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
TAS1R3	83756	broad.mit.edu	37	1	1267838	1267838	+	Silent	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:1267838C>T	uc010nyk.1	+	3	927	c.927C>T	c.(925-927)GTC>GTT	p.V309V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	309	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CTGACCTGGTCATGGGGCTGC	0.672000												
C1orf174	339448	broad.mit.edu	37	1	3807161	3807161	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:3807161C>T	uc001alf.2	-	3	697	c.590G>A	c.(589-591)CGG>CAG	p.R197Q	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	197											0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TCCAAAGAACCGGCTCACGGG	0.567000												
CASP9	842	broad.mit.edu	37	1	15831220	15831220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:15831220C>T	uc001awn.2	-	6	849	c.754G>A	c.(754-756)GGC>AGC	p.G252S	CASP9_uc001awm.1_Missense_Mutation_p.G252S|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G96S|CASP9_uc009voi.2_Missense_Mutation_p.G96S|CASP9_uc010obm.1_Missense_Mutation_p.G169S|CASP9_uc001awq.2_Missense_Mutation_p.G169S	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	252					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CCATCTGTGCCGTAGACAGCC	0.537000												
SPEN	23013	broad.mit.edu	37	1	16262482	16262482	+	Silent	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:16262482C>T	uc001axk.1	+	11	9951	c.9747C>T	c.(9745-9747)CCC>CCT	p.P3249P	SPEN_uc010obp.1_Silent_p.P3208P	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3249	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		cccctgcccccgtccctgtcc	0.408000												
ERI3	79033	broad.mit.edu	37	1	44687311	44687311	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:44687311G>A	uc001clt.2	-	9	1174	c.933C>T	c.(931-933)GAC>GAT	p.D311D	ERI3_uc010okv.1_Silent_p.D134D|ERI3_uc009vxg.2_Silent_p.D339D|ERI3_uc010okw.1_Silent_p.D233D|ERI3_uc001clu.2_Missense_Mutation_p.T200M	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	311	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						TCTTGCAGTCGTCTAAAAAGG	0.522000												
ELAVL4	1996	broad.mit.edu	37	1	50659546	50659546	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:50659546A>G	uc001csb.2	+	4	732	c.464A>G	c.(463-465)TAC>TGC	p.Y155C	ELAVL4_uc001cry.3_Missense_Mutation_p.Y158C|ELAVL4_uc001crz.3_Missense_Mutation_p.Y155C|ELAVL4_uc001csa.3_Missense_Mutation_p.Y172C|ELAVL4_uc001csc.3_Missense_Mutation_p.Y155C|ELAVL4_uc009vyu.2_Missense_Mutation_p.Y160C|ELAVL4_uc010omz.1_Missense_Mutation_p.Y160C	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	155	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						TTCTCGCAATACGGCCGTATC	0.468000												
LPHN2	23266	broad.mit.edu	37	1	82456476	82456476	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:82456476G>C	uc001dit.3	+	21	4040	c.3859G>C	c.(3859-3861)GTG>CTG	p.V1287L	LPHN2_uc001dis.2_Missense_Mutation_p.V267L|LPHN2_uc001diu.2_Missense_Mutation_p.V1287L|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.V914L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1343	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCAGAAGAAAGTGAAGTCCGA	0.532000												
LCE2A	353139	broad.mit.edu	37	1	152671675	152671675	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:152671675C>T	uc001faj.2	+	2	349	c.298C>T	c.(298-300)CAC>TAC	p.H100Y		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	100	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGCTGCCACAGCTCTGG	0.602000												
FCRL3	115352	broad.mit.edu	37	1	157668421	157668421	+	Splice_Site	SNP	T	T	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:157668421T>G	uc001frb.2	-	4	345	c.53_splice	c.e4-1	p.G18_splice	FCRL3_uc001fqx.3_Splice_Site|FCRL3_uc001fqy.3_Splice_Site|FCRL3_uc001fqz.3_Splice_Site_p.G18_splice|FCRL3_uc009wsn.2_Splice_Site|FCRL3_uc009wso.2_Splice_Site|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Splice_Site_p.G18_splice	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor							integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GGGCCACCCCTAAACAGGAAA	0.502000												
OR10X1	128367	broad.mit.edu	37	1	158549445	158549445	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:158549445A>G	uc010pin.1	-	1	245	c.245T>C	c.(244-246)CTC>CCC	p.L82P		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	82	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGAGAAGGAGAGTGCACTAAG	0.498000												
OR6N2	81442	broad.mit.edu	37	1	158746982	158746982	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:158746982A>T	uc010pir.1	-	1	444	c.444T>A	c.(442-444)TGT>TGA	p.C148*		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					CACAAGTCCAACAAGCAGCAG	0.483000												
ATP1A4	480	broad.mit.edu	37	1	160136459	160136459	+	Missense_Mutation	SNP	G	G	A	rs147875149	byFrequency	TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:160136459G>A	uc001fve.3	+	8	1668	c.1189G>A	c.(1189-1191)GCC>ACC	p.A397T	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	397	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGACCGTCGCCCACATGTG	0.577000												
TNR	7143	broad.mit.edu	37	1	175334354	175334354	+	Silent	SNP	A	A	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:175334354A>G	uc001gkp.1	-	10	2460	c.2379T>C	c.(2377-2379)ACT>ACC	p.T793T	TNR_uc009wwu.1_Silent_p.T793T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	793	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GATCACTCCAAGTGATGTTCA	0.517000												
LAMC1	3915	broad.mit.edu	37	1	183099510	183099510	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:183099510G>A	uc001gpy.3	+	19	3569	c.3312G>A	c.(3310-3312)CAG>CAA	p.Q1104Q		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1104	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCGCCTACAGAGAGTGAATA	0.413000												
FAM5C	339479	broad.mit.edu	37	1	190067640	190067640	+	Silent	SNP	T	T	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:190067640T>C	uc001gse.1	-	8	2041	c.1809A>G	c.(1807-1809)CTA>CTG	p.L603L	FAM5C_uc010pot.1_Silent_p.L501L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	603						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ACTGCAGGGGTAGGTCCAACT	0.463000												
ZP4	57829	broad.mit.edu	37	1	238053765	238053765	+	Silent	SNP	A	A	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr1:238053765A>T	uc001hym.2	-	1	171	c.171T>A	c.(169-171)GCT>GCA	p.A57A	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	57	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACTTACCCCAAGCTATTAGTA	0.478000												
C10orf140	387640	broad.mit.edu	37	10	21804403	21804403	+	Silent	SNP	T	T	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:21804403T>C	uc009xkd.2	-	4	4602	c.2349A>G	c.(2347-2349)ACA>ACG	p.T783T	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	702						nucleus	nucleotide binding			ovary(1)	1						CCAGTACTAGTGTCCGGTAAT	0.458000												
PCDH15	65217	broad.mit.edu	37	10	55721560	55721560	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:55721560T>A	uc001jju.1	-	22	3356	c.2961A>T	c.(2959-2961)AGA>AGT	p.R987S	PCDH15_uc010qhq.1_Missense_Mutation_p.R992S|PCDH15_uc010qhr.1_Missense_Mutation_p.R987S|PCDH15_uc010qhs.1_Missense_Mutation_p.R999S|PCDH15_uc010qht.1_Missense_Mutation_p.R994S|PCDH15_uc010qhu.1_Missense_Mutation_p.R987S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R987S|PCDH15_uc010qhw.1_Missense_Mutation_p.R950S|PCDH15_uc010qhx.1_Missense_Mutation_p.R916S|PCDH15_uc010qhy.1_Missense_Mutation_p.R992S|PCDH15_uc010qhz.1_Missense_Mutation_p.R987S|PCDH15_uc010qia.1_Missense_Mutation_p.R965S|PCDH15_uc010qib.1_Missense_Mutation_p.R965S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	987	Extracellular (Potential).|Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTTATTACTCTTCCAGAAT	0.343000										HNSCC(58;0.16)		
ZNF365	22891	broad.mit.edu	37	10	64415333	64415333	+	Silent	SNP	G	G	A	rs141141483		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:64415333G>A	uc001jmd.1	+	4	667	c.333G>A	c.(331-333)TCG>TCA	p.S111S	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	111										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTGCAGAGTCGTGCTGTGGTC	0.512000												
STOX1	219736	broad.mit.edu	37	10	70645465	70645465	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:70645465C>T	uc001jos.2	+	3	2000	c.1913C>T	c.(1912-1914)CCG>CTG	p.P638L	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.P528L	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	638						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						AAACAGACTCCGCATAGTCTG	0.433000												
LRIT1	26103	broad.mit.edu	37	10	85991896	85991896	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:85991896C>G	uc001kcz.1	-	4	1681	c.1659G>C	c.(1657-1659)CAG>CAC	p.Q553H		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	553	Cytoplasmic (Potential).					integral to endoplasmic reticulum membrane					0						GGCAGCGCTTCTGAAGAGCAC	0.552000												
GRID1	2894	broad.mit.edu	37	10	87966203	87966203	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:87966203G>A	uc001kdl.1	-	3	539	c.438C>T	c.(436-438)CCC>CCT	p.P146P	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	146	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGAGGCGGACGGGTGGTCTCG	0.622000										Multiple Myeloma(13;0.14)		
MYOF	26509	broad.mit.edu	37	10	95119649	95119649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:95119649G>A	uc001kin.2	-	29	3184	c.3061C>T	c.(3061-3063)CGA>TGA	p.R1021*	MYOF_uc001kio.2_Nonsense_Mutation_p.R1008*|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1021	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						ACCAGCCTTCGCCGTCTATGA	0.502000												
PNLIPRP2	5408	broad.mit.edu	37	10	118385511	118385511	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr10:118385511C>T	uc001lcq.2	+	6	285	c.262C>T	c.(262-264)CGC>TGC	p.R88C	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	87					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		CCAACTGGACCGCAAGACACG	0.498000												
ODF3	113746	broad.mit.edu	37	11	197612	197612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:197612G>A	uc001lob.2	+	3	455	c.161G>A	c.(160-162)CGT>CAT	p.R54H	ODF3_uc010qvk.1_Missense_Mutation_p.R54H|ODF3_uc001loc.2_Missense_Mutation_p.R54H	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	54					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				ovary(1)	1		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TACAGCTTCCGTGGGGCCCCC	0.632000												
SLC17A6	57084	broad.mit.edu	37	11	22391671	22391671	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:22391671T>G	uc001mqk.2	+	8	1391	c.978T>G	c.(976-978)TTT>TTG	p.F326L		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	326	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GCTGGACTTTTTATTTATTGC	0.323000												
DLG2	1740	broad.mit.edu	37	11	83641522	83641522	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:83641522G>A	uc001paj.2	-	10	1333	c.1030C>T	c.(1030-1032)CCG>TCG	p.P344S	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.P311S|DLG2_uc010rsz.1_Missense_Mutation_p.P344S|DLG2_uc010rta.1_Missense_Mutation_p.P344S|DLG2_uc001pak.2_Missense_Mutation_p.P449S|DLG2_uc010rtb.1_Missense_Mutation_p.P311S|DLG2_uc001pal.1_Missense_Mutation_p.P344S|DLG2_uc001pam.1_Missense_Mutation_p.P383S	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	344						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACAGGTTCCGGAGGCCTGGTG	0.458000												
IL18	3606	broad.mit.edu	37	11	112014479	112014479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:112014479C>T	uc001pnb.1	-	6	642	c.422G>A	c.(421-423)AGT>AAT	p.S141N	IL18_uc001pna.1_Missense_Mutation_p.S115N|IL18_uc009yym.1_Missense_Mutation_p.S137N	NM_001562	NP_001553	Q14116	IL18_HUMAN	interleukin 18 proprotein	141					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TCCTGGGACACTTCTCTGAAA	0.323000												
OR8D2	283160	broad.mit.edu	37	11	124189480	124189480	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr11:124189480A>C	uc010sah.1	-	1	614	c.614T>G	c.(613-615)GTT>GGT	p.V205G		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAAGGTATTAACTCCTCCAAT	0.413000												
CLECL1	160365	broad.mit.edu	37	12	9885618	9885618	+	Silent	SNP	T	T	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr12:9885618T>A	uc001qwj.2	-	1	243	c.243A>T	c.(241-243)GGA>GGT	p.G81G		NM_172004	NP_742001	Q8IZS7	CLCL1_HUMAN	type II transmembrane protein DCAL1	81	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane|plasma membrane	sugar binding				0						AGACTACATCTCCAGCCATTG	0.433000												
DNAH10	196385	broad.mit.edu	37	12	124359954	124359954	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr12:124359954G>A	uc001uft.3	+	46	7786	c.7761G>A	c.(7759-7761)TCG>TCA	p.S2587S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATTTATTTCGCTATTCAGTG	0.443000												
PCDH17	27253	broad.mit.edu	37	13	58207332	58207332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr13:58207332G>A	uc001vhq.1	+	1	1544	c.652G>A	c.(652-654)GGT>AGT	p.G218S	PCDH17_uc010aec.1_Missense_Mutation_p.G218S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCCTGGACGGTGGCGAGCC	0.607000												
PCDH20	64881	broad.mit.edu	37	13	61987973	61987973	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr13:61987973C>T	uc001vid.3	-	2	623	c.259G>A	c.(259-261)GAG>AAG	p.E87K	PCDH20_uc010thj.1_Missense_Mutation_p.E87K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	60	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CGCAGGTCCTCGGCCAGGCTG	0.687000												
COL4A1	1282	broad.mit.edu	37	13	110829307	110829307	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr13:110829307G>A	uc001vqw.3	-	34	2916	c.2794C>T	c.(2794-2796)CCT>TCT	p.P932S	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	932	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCTTGCCAGGGAGACCGACA	0.587000												
AKAP6	9472	broad.mit.edu	37	14	33046439	33046439	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr14:33046439G>A	uc001wrq.2	+	5	2630	c.2460G>A	c.(2458-2460)GAG>GAA	p.E820E	AKAP6_uc010aml.2_Silent_p.E817E	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	820	Spectrin 1.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		TGTATCTGGAGACACACTTGG	0.348000												
SEMA6D	80031	broad.mit.edu	37	15	48055278	48055278	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr15:48055278G>A	uc010bek.2	+	9	1084	c.724G>A	c.(724-726)GTC>ATC	p.V242I	SEMA6D_uc001zvw.2_Missense_Mutation_p.V242I|SEMA6D_uc001zvx.1_Missense_Mutation_p.V242I|SEMA6D_uc001zvy.2_Missense_Mutation_p.V242I|SEMA6D_uc001zvz.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwa.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwb.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwc.2_Missense_Mutation_p.V242I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	242	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.V242V(1)		skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGAAATCGCTGTCGAACATAA	0.358000												
FBN1	2200	broad.mit.edu	37	15	48782113	48782113	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr15:48782113T>C	uc001zwx.1	-	25	3345	c.3017A>G	c.(3016-3018)GAG>GGG	p.E1006G		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1006	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGACACAGCTCCTCGTACTC	0.542000												
PHKG2	5261	broad.mit.edu	37	16	30768205	30768205	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr16:30768205G>A	uc002dzk.1	+	10	1101	c.1008G>A	c.(1006-1008)CTG>CTA	p.L336L	PHKG2_uc002dzi.1_Silent_p.L340L|PHKG2_uc002dzj.1_Silent_p.L234L	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	336					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			AGAATGCACTGTTGAGGGACC	0.617000												
LPCAT2	54947	broad.mit.edu	37	16	55608610	55608610	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr16:55608610A>T	uc002eie.3	+	12	1464	c.1283A>T	c.(1282-1284)AAC>ATC	p.N428I	LPCAT2_uc002eic.2_Missense_Mutation_p.N158I	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	428	EF-hand 2.|Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						AACCCTTCCAACACAGAGGAG	0.453000												
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
C18orf34	374864	broad.mit.edu	37	18	30926368	30926368	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr18:30926368C>G	uc002kxn.2	-	8	607	c.465G>C	c.(463-465)AAG>AAC	p.K155N	C18orf34_uc010xbr.1_Missense_Mutation_p.K155N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K155N|C18orf34_uc002kxp.2_Missense_Mutation_p.K155N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	155	Potential.									ovary(1)	1						ACTCTGGACACTTTTCATCTT	0.353000												
MUC16	94025	broad.mit.edu	37	19	9010988	9010988	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:9010988G>A	uc002mkp.2	-	37	39134	c.38930C>T	c.(38929-38931)TCT>TTT	p.S12977F	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12979	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGGGCCACAGAGCTCCGATG	0.522000												
ZNF625	90589	broad.mit.edu	37	19	12256938	12256938	+	Missense_Mutation	SNP	C	C	A	rs112669855		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:12256938C>A	uc002mth.2	-	4	445	c.95G>T	c.(94-96)CGA>CTA	p.R32L	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.R66L	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	32	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGATTTTACTCGGGGAGTTTT	0.448000												
ZNF208	7757	broad.mit.edu	37	19	22156673	22156673	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:22156673T>G	uc002nqp.2	-	4	1312	c.1163A>C	c.(1162-1164)AAG>ACG	p.K388T	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAATTTTCTTATGATAACT	0.373000												
PSG11	5680	broad.mit.edu	37	19	43523024	43523024	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:43523024A>G	uc002ovm.1	-	3	714	c.607T>C	c.(607-609)TTT>CTT	p.F203L	PSG11_uc002ouw.2_Missense_Mutation_p.F209L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.F209L|PSG11_uc002ovn.1_Missense_Mutation_p.F209L|PSG11_uc002ovo.1_Missense_Mutation_p.F81L|PSG11_uc002ovp.1_Missense_Mutation_p.F81L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	203	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				CCAAATAGAAAGAGGGTCCTG	0.502000												
HAS1	3036	broad.mit.edu	37	19	52222534	52222534	+	Silent	SNP	C	C	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr19:52222534C>A	uc002pxo.1	-	2	662	c.627G>T	c.(625-627)GCG>GCT	p.A209A	HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Silent_p.A174A|HAS1_uc002pxn.1_Silent_p.A216A|HAS1_uc002pxp.1_Silent_p.A208A	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	209	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCAGCGCTGCGCCACGCACA	0.617000												
POLR1A	25885	broad.mit.edu	37	2	86315780	86315780	+	Silent	SNP	G	G	A	rs117639882	by1000genomes	TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:86315780G>A	uc002sqs.2	-	6	1018	c.639C>T	c.(637-639)TCC>TCT	p.S213S	POLR1A_uc002sqv.2_Silent_p.S213S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	213					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TTCGGACAACGGATCGCCCGG	0.512000												
PTCD3	55037	broad.mit.edu	37	2	86364655	86364655	+	Silent	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:86364655C>T	uc002sqw.2	+	24	2109	c.2043C>T	c.(2041-2043)AGC>AGT	p.S681S	PTCD3_uc002sqx.1_Silent_p.S271S	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	681						mitochondrion	protein binding			ovary(1)	1						GCAGTGACAGCGACAGTGACA	0.453000												
LOC150786	150786	broad.mit.edu	37	2	132120854	132120854	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:132120854C>T	uc002tsr.2	-	1	878	c.440G>A	c.(439-441)GGG>GAG	p.G147E		NM_001077637	NP_001071105	Q53S08	Q53S08_HUMAN	RAB6C-like	147					protein transport|small GTPase mediated signal transduction		GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.078)		AACATTCAGCCCTTTGGCTTT	0.448000												
ACVR2A	92	broad.mit.edu	37	2	148602741	148602741	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:148602741T>A	uc002twg.2	+	2	289	c.20T>A	c.(19-21)TTG>TAG	p.L7*	ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Nonsense_Mutation_p.L7*	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	7					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GCTGCAAAGTTGGCGTTTGCC	0.637000												
MAP2	4133	broad.mit.edu	37	2	210560980	210560980	+	Silent	SNP	T	T	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:210560980T>C	uc002vde.1	+	7	4334	c.4086T>C	c.(4084-4086)TCT>TCC	p.S1362S	MAP2_uc002vdc.1_Silent_p.S1362S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.S1358S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1362					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTGCACTTTCTGAATATAAGA	0.502000												
WNT10A	80326	broad.mit.edu	37	2	219746932	219746932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr2:219746932C>T	uc002vjd.1	+	2	626	c.163C>T	c.(163-165)CTC>TTC	p.L55F		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	55					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGCCCGTGCTCAATGCCAA	0.617000												
HAO1	54363	broad.mit.edu	37	20	7915153	7915153	+	Silent	SNP	G	G	A	rs138052675		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr20:7915153G>A	uc002wmw.1	-	2	291	c.267C>T	c.(265-267)GAC>GAT	p.D89D	HAO1_uc010gbu.2_Silent_p.D89D	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	89	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			ovary(3)	3						CAAGCTCGCCGTCCACATGAG	0.522000												
SULF2	55959	broad.mit.edu	37	20	46290516	46290516	+	Splice_Site	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr20:46290516C>T	uc002xto.2	-	18	2824	c.2494_splice	c.e18+1	p.G832_splice	SULF2_uc002xtr.2_Splice_Site_p.D832_splice|SULF2_uc002xtq.2_Splice_Site_p.G832_splice|SULF2_uc010zyd.1_Splice_Site_p.G111_splice	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor						bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TGCCTACTCACCCAGGTCCAT	0.567000												
SULF2	55959	broad.mit.edu	37	20	46331299	46331299	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr20:46331299G>A	uc002xto.2	-	4	861	c.531C>T	c.(529-531)AAC>AAT	p.N177N	SULF2_uc002xtr.2_Silent_p.N177N|SULF2_uc002xtq.2_Silent_p.N177N|SULF2_uc010ghv.1_Silent_p.N177N	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	177					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CTTTCACCCCGTTCCGACACA	0.453000												
TSHZ2	128553	broad.mit.edu	37	20	51870928	51870928	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr20:51870928A>C	uc002xwo.2	+	2	1887	c.931A>C	c.(931-933)ACC>CCC	p.T311P		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	311					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GCCAGTCCCAACCATTTCCTC	0.448000												
ADARB1	104	broad.mit.edu	37	21	46602544	46602544	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr21:46602544A>G	uc002zgy.2	+	6	1558	c.1123A>G	c.(1123-1125)ACA>GCA	p.T375A	ADARB1_uc002zgr.2_Missense_Mutation_p.T375A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.T375A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.T375A|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	375	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TTCTACAGGAACAAAATGTAT	0.348000												
CACNA1I	8911	broad.mit.edu	37	22	40037148	40037148	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr22:40037148C>A	uc003ayc.2	+	6	1017	c.1017C>A	c.(1015-1017)AAC>AAA	p.N339K	CACNA1I_uc003ayd.2_Missense_Mutation_p.N339K|CACNA1I_uc003aye.2_Missense_Mutation_p.N254K|CACNA1I_uc003ayf.2_Missense_Mutation_p.N254K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	339	I.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTGCCATCAACTTTGACAACA	0.577000												
GPR149	344758	broad.mit.edu	37	3	154146457	154146457	+	Silent	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr3:154146457C>T	uc003faa.2	-	1	1048	c.948G>A	c.(946-948)GCG>GCA	p.A316A		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	316	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTTTGTAAGCGCTAGGATCA	0.562000												
FXR1	8087	broad.mit.edu	37	3	180666236	180666236	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr3:180666236T>A	uc003fkq.2	+	5	394	c.372T>A	c.(370-372)AAT>AAA	p.N124K	FXR1_uc003fkp.2_Missense_Mutation_p.N39K|FXR1_uc003fkr.2_Missense_Mutation_p.N124K|FXR1_uc011bqj.1_Missense_Mutation_p.N38K|FXR1_uc003fks.2_Missense_Mutation_p.N38K|FXR1_uc011bqk.1_Missense_Mutation_p.N75K|FXR1_uc011bql.1_Missense_Mutation_p.N111K	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	124					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCAAAAAAAATACCTTCTTTA	0.328000												
BST1	683	broad.mit.edu	37	4	15733454	15733454	+	Silent	SNP	A	A	C	rs1058212	byFrequency	TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr4:15733454A>C	uc003goh.3	+	9	1138	c.943A>C	c.(943-945)AGG>CGG	p.R315R	BST1_uc003goi.2_Intron	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	315					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	p.R315R(1)		central_nervous_system(1)	1						GCTGGCTTCCAGGACTCAACT	0.493000												
CWH43	80157	broad.mit.edu	37	4	49032878	49032878	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr4:49032878C>G	uc003gyv.2	+	11	1591	c.1409C>G	c.(1408-1410)TCT>TGT	p.S470C	CWH43_uc011bzl.1_Missense_Mutation_p.S443C	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	470					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						AGTGATGCTTCTAAGCCCTAT	0.403000												
SCLT1	132320	broad.mit.edu	37	4	129867285	129867285	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr4:129867285T>C	uc003igp.2	-	16	1822	c.1316A>G	c.(1315-1317)AAT>AGT	p.N439S	SCLT1_uc003ign.2_Missense_Mutation_p.N103S|SCLT1_uc003igo.2_Missense_Mutation_p.N49S|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	439	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						ATCACTCTCATTTCCTCTGCC	0.353000												
USP38	84640	broad.mit.edu	37	4	144106972	144106972	+	Silent	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr4:144106972C>T	uc003ijb.2	+	1	903	c.369C>T	c.(367-369)CTC>CTT	p.L123L	USP38_uc003ija.3_Silent_p.L123L|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	123					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					TGCTGGATCTCTTTAGCCTCC	0.557000												
HTR1A	3350	broad.mit.edu	37	5	63256317	63256317	+	Silent	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr5:63256317C>T	uc011cqt.1	-	1	1230	c.1230G>A	c.(1228-1230)GCG>GCA	p.A410A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	410	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCTTCTTAAACGCGTTTTGAA	0.512000												
CYFIP2	26999	broad.mit.edu	37	5	156753275	156753275	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr5:156753275G>A	uc003lwq.2	+	20	2217	c.2079G>A	c.(2077-2079)GAG>GAA	p.E693E	CYFIP2_uc011ddn.1_Silent_p.E667E|CYFIP2_uc011ddo.1_Silent_p.E497E|CYFIP2_uc003lwr.2_Silent_p.E693E|CYFIP2_uc003lws.2_Silent_p.E693E|CYFIP2_uc003lwt.2_Silent_p.E596E|CYFIP2_uc011ddp.1_Silent_p.E427E	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	718					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGAAGCTGAGGCAAGTGATG	0.428000												
HK3	3101	broad.mit.edu	37	5	176308118	176308118	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr5:176308118C>A	uc003mfa.2	-	19	2820	c.2728G>T	c.(2728-2730)GTC>TTC	p.V910F	HK3_uc003mez.2_Missense_Mutation_p.V466F	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	910	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCGGTGACCAGGGCCGCA	0.677000												
HIST1H3H	8357	broad.mit.edu	37	6	27778143	27778143	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:27778143G>A	uc003njm.2	+	1	302	c.292G>A	c.(292-294)GAG>AAG	p.E98K	HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						AGAGGCATGCGAGGCCTACCT	0.602000												
BAI3	577	broad.mit.edu	37	6	69943236	69943236	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:69943236T>G	uc003pev.3	+	18	2983	c.2535T>G	c.(2533-2535)GAT>GAG	p.D845E	BAI3_uc010kak.2_Missense_Mutation_p.D845E|BAI3_uc011dxx.1_Missense_Mutation_p.D51E|BAI3_uc003pex.1_5'Flank	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	845	GPS.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGCTTACCGATGCATCCCATA	0.483000												
LAMA4	3910	broad.mit.edu	37	6	112528344	112528344	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:112528344G>A	uc003pvu.2	-	4	609	c.300C>T	c.(298-300)CAC>CAT	p.H100H	LAMA4_uc003pvv.2_Silent_p.H100H|LAMA4_uc003pvt.2_Silent_p.H100H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	100	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		TCCGCTGGCAGTGCTATGAGA	0.463000												
GPRC6A	222545	broad.mit.edu	37	6	117128249	117128249	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:117128249C>T	uc003pxj.1	-	3	641	c.619G>A	c.(619-621)GGT>AGT	p.G207S	GPRC6A_uc003pxk.1_Missense_Mutation_p.G207S|GPRC6A_uc003pxl.1_Missense_Mutation_p.G207S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	207	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAGTTCCAACCAGATTTCTGA	0.408000												
ROS1	6098	broad.mit.edu	37	6	117662377	117662377	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr6:117662377G>A	uc003pxp.1	-	30	5199	c.5000C>T	c.(4999-5001)CCA>CTA	p.P1667L	ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1667	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTGTTCTCTGGAACCAAGGA	0.413000			T	GOPC|ROS1	glioblastoma|NSCLC							
PCLO	27445	broad.mit.edu	37	7	82544523	82544523	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:82544523A>C	uc003uhx.2	-	7	13068	c.12779T>G	c.(12778-12780)CTT>CGT	p.L4260R	PCLO_uc003uhv.2_Missense_Mutation_p.L4260R|PCLO_uc010lec.2_Missense_Mutation_p.L1225R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4191					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCCTGTGCCAAGAGAAGATCC	0.428000												
AKAP9	10142	broad.mit.edu	37	7	91727029	91727029	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:91727029C>A	uc003ulg.2	+	42	10753	c.10528C>A	c.(10528-10530)CAT>AAT	p.H3510N	AKAP9_uc003ulf.2_Missense_Mutation_p.H3502N|AKAP9_uc003uli.2_Missense_Mutation_p.H3133N|AKAP9_uc003ulj.2_Missense_Mutation_p.H1280N|AKAP9_uc003ull.2_Missense_Mutation_p.H406N	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3514					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CGGCTGTAATCATGAATTAGA	0.378000			T	BRAF	papillary thyroid							
SAMD9L	219285	broad.mit.edu	37	7	92760694	92760694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:92760694C>T	uc003umh.1	-	5	5807	c.4591G>A	c.(4591-4593)GGC>AGC	p.G1531S	SAMD9L_uc003umj.1_Missense_Mutation_p.G1531S|SAMD9L_uc003umi.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfb.1_Missense_Mutation_p.G1531S|SAMD9L_uc003umk.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfc.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfd.1_Missense_Mutation_p.G1531S|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1531										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTAGCTTGCCTTCAGCCTGA	0.398000												
STAG3	10734	broad.mit.edu	37	7	99808776	99808776	+	Silent	SNP	A	A	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:99808776A>G	uc003utx.1	+	30	3536	c.3381A>G	c.(3379-3381)GAA>GAG	p.E1127E	STAG3_uc011kjk.1_Silent_p.E1069E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Silent_p.E351E	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1127					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATGGAGGAAGAAGATGGCT	0.577000												
CFTR	1080	broad.mit.edu	37	7	117232021	117232021	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:117232021G>A	uc003vjd.2	+	14	1932	c.1800G>A	c.(1798-1800)AGG>AGA	p.R600R	CFTR_uc011knq.1_Silent_p.R6R	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	600	Cytoplasmic (Potential).|ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAAAACTAGGATTTTGGTCA	0.279000									Cystic_Fibrosis			
KCND2	3751	broad.mit.edu	37	7	120373007	120373007	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:120373007T>C	uc003vjj.1	+	2	2131	c.1166T>C	c.(1165-1167)ATC>ACC	p.I389T		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	389	Helical; Name=Segment S6; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TTTGGTTCTATCTGTTCGCTG	0.408000												
CHRM2	1129	broad.mit.edu	37	7	136699939	136699939	+	Silent	SNP	C	C	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:136699939C>G	uc003vtf.1	+	4	950	c.327C>G	c.(325-327)GCC>GCG	p.A109A	CHRM2_uc003vtg.1_Silent_p.A109A|CHRM2_uc003vtj.1_Silent_p.A109A|CHRM2_uc003vtk.1_Silent_p.A109A|CHRM2_uc003vtl.1_Silent_p.A109A|CHRM2_uc003vtm.1_Silent_p.A109A|CHRM2_uc003vti.1_Silent_p.A109A|CHRM2_uc003vto.1_Silent_p.A109A|CHRM2_uc003vtn.1_Silent_p.A109A|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	109	Helical; Name=3; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCAGCAATGCCTCAGTTATGA	0.488000												
KCNH2	3757	broad.mit.edu	37	7	150654535	150654535	+	Silent	SNP	G	G	A	rs146297032		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:150654535G>A	uc003wic.2	-	5	985	c.972C>T	c.(970-972)CTC>CTT	p.L324L	KCNH2_uc003wib.2_5'Flank|KCNH2_uc011kux.1_Silent_p.L228L|KCNH2_uc003wid.2_5'Flank|KCNH2_uc003wie.2_Silent_p.L324L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	324	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTAGCGCACGAGGTCGGAGT	0.632000												
SHH	6469	broad.mit.edu	37	7	155599103	155599103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr7:155599103G>A	uc003wmk.1	-	2	600	c.449C>T	c.(448-450)ACG>ATG	p.T150M	SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.T63M|SHH_uc003wmj.1_Missense_Mutation_p.T63M	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	150			T -> R (in HPE3).|T -> K (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGTCAGACGTGGTGATGTC	0.642000												
RHOBTB2	23221	broad.mit.edu	37	8	22868070	22868070	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr8:22868070G>A	uc003xcq.2	+	7	2177	c.1640G>A	c.(1639-1641)AGC>AAC	p.S547N	RHOBTB2_uc003xcp.2_Missense_Mutation_p.S569N|RHOBTB2_uc011kzp.1_Missense_Mutation_p.S554N|uc003xcr.2_Intron	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	547	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCCTACACAAGCAAGAGCTGC	0.542000												
XKR4	114786	broad.mit.edu	37	8	56270253	56270253	+	Silent	SNP	A	A	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr8:56270253A>T	uc003xsf.2	+	2	854	c.822A>T	c.(820-822)ATA>ATT	p.I274I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	274						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCACACAATATACTTAGGTA	0.388000												
FBXO43	286151	broad.mit.edu	37	8	101149837	101149837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr8:101149837G>A	uc003yjd.2	-	3	2343	c.1630C>T	c.(1630-1632)CGG>TGG	p.R544W	FBXO43_uc003yje.2_Missense_Mutation_p.R510W|FBXO43_uc010mbp.1_Missense_Mutation_p.R544W	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	544	F-box.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTCCTCCTCCGATTTGCATTT	0.289000												
SMARCA2	6595	broad.mit.edu	37	9	2123850	2123850	+	Silent	SNP	A	A	G	rs141291951		TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:2123850A>G	uc003zhc.2	+	27	3993	c.3894A>G	c.(3892-3894)GAA>GAG	p.E1298E	SMARCA2_uc003zhd.2_Silent_p.E1298E|SMARCA2_uc010mha.2_Silent_p.E1231E	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1298	Poly-Glu.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTGTGAAGAAGAGGAGGAGA	0.562000												
IFNA10	3446	broad.mit.edu	37	9	21206570	21206570	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:21206570G>A	uc003zoq.1	-	1	573	c.527C>T	c.(526-528)TCG>TTG	p.S176L	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	176					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TGTTGAAAACGAGAGGGATCT	0.388000												
KIF24	347240	broad.mit.edu	37	9	34257621	34257621	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:34257621G>A	uc003zua.3	-	11	2104	c.1984C>T	c.(1984-1986)CCA>TCA	p.P662S	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	662					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			GACTCTTCTGGCTTTTTTTTG	0.522000												
SHC3	53358	broad.mit.edu	37	9	91657058	91657058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:91657058C>T	uc004aqg.2	-	10	1550	c.1243G>A	c.(1243-1245)GTG>ATG	p.V415M		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	415	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						GTGGGGGCCACGTGCAGTTTC	0.582000												
GABBR2	9568	broad.mit.edu	37	9	101065617	101065617	+	Missense_Mutation	SNP	G	G	A	rs138346207	by1000genomes	TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:101065617G>A	uc004ays.2	-	16	2474	c.2318C>T	c.(2317-2319)ACG>ATG	p.T773M		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	773	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGAGGTGGACGTTTTAGAATC	0.507000												
LAMC3	10319	broad.mit.edu	37	9	133932371	133932371	+	Silent	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:133932371G>A	uc004caa.1	+	12	2093	c.1995G>A	c.(1993-1995)CCG>CCA	p.P665P		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	665	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTTTCCCCGCCAGCCTCCT	0.617000												
CAMSAP1	157922	broad.mit.edu	37	9	138713938	138713938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chr9:138713938G>A	uc004cgr.3	-	11	2569	c.2569C>T	c.(2569-2571)CAG>TAG	p.Q857*	CAMSAP1_uc004cgq.3_Nonsense_Mutation_p.Q747*|CAMSAP1_uc010nbg.2_Nonsense_Mutation_p.Q579*	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	857						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCCTCTTCTGCCTCCACGTC	0.622000												
DDX3X	1654	broad.mit.edu	37	X	41204467	41204467	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chrX:41204467G>T	uc004dfe.2	+	11	1915	c.1060G>T	c.(1060-1062)GAT>TAT	p.D354Y	DDX3X_uc004dff.2_Missense_Mutation_p.D354Y|DDX3X_uc011mkq.1_Missense_Mutation_p.D338Y|DDX3X_uc011mkr.1_Missense_Mutation_p.D354Y|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	354	Necessary for interaction with XPO1.|Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TCGGATGTTGGATATGGGGTT	0.398000										HNSCC(61;0.18)		
HUWE1	10075	broad.mit.edu	37	X	53672407	53672407	+	Silent	SNP	T	T	C			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chrX:53672407T>C	uc004dsp.2	-	7	762	c.360A>G	c.(358-360)ACA>ACG	p.T120T		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	120					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCAATAAAGTTGTCAAATGCT	0.398000												
EDA2R	60401	broad.mit.edu	37	X	65835851	65835851	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chrX:65835851T>G	uc004dwq.2	-	1	23	c.12A>C	c.(10-12)CAA>CAC	p.Q4H	EDA2R_uc004dwr.2_Missense_Mutation_p.Q4H|EDA2R_uc004dws.2_Missense_Mutation_p.Q4H|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_5'UTR|EDA2R_uc010nkt.1_Missense_Mutation_p.Q4H|EDA2R_uc004dwt.1_Missense_Mutation_p.Q4H	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	4	TNFR-Cys 1.|Extracellular (Potential).				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1						ACTCATTTTCTTGGCAATCCA	0.502000												
KIAA2022	340533	broad.mit.edu	37	X	73961095	73961095	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8484-01A-11D-2394-08	TCGA-BR-8484-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f00fcf3-f10e-4c22-b4ea-d9cc765d2647	fb53f86c-6077-4496-a222-35622ccdedf8	g.chrX:73961095T>A	uc004eby.2	-	3	3914	c.3297A>T	c.(3295-3297)CAA>CAT	p.Q1099H		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1099					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GGACACCCTCTTGGAACCCCT	0.478000												
