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
MSH4	4438	broad.mit.edu	37	1	76282161	76282161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:76282161G>T	uc001dhd.1	+	6	960	c.919G>T	c.(919-921)GAA>TAA	p.E307*		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	307					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						CCAGGGTAGTGAACAGACAGC	0.318000								MMR				
SORT1	6272	broad.mit.edu	37	1	109870142	109870142	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:109870142C>T	uc001dxm.1	-	12	1502	c.1453G>A	c.(1453-1455)GTA>ATA	p.V485I	SORT1_uc010ovi.1_Missense_Mutation_p.V348I	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	485	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTACGGCATTCGGC	0.498000												
FCRL5	83416	broad.mit.edu	37	1	157485636	157485636	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:157485636T>C	uc001fqu.2	-	16	2998	c.2840A>G	c.(2839-2841)AAC>AGC	p.N947S	FCRL5_uc009wsm.2_Missense_Mutation_p.T944A	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	947	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTCACCTTGTTCCTGAGATG	0.602000												
ABL2	27	broad.mit.edu	37	1	179077710	179077710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:179077710G>A	uc001gmj.3	-	12	2979	c.2692C>T	c.(2692-2694)CGA>TGA	p.R898*	ABL2_uc010pnf.1_Nonsense_Mutation_p.R795*|ABL2_uc010png.1_Nonsense_Mutation_p.R774*|ABL2_uc010pnh.1_Nonsense_Mutation_p.R877*|ABL2_uc001gmg.3_Nonsense_Mutation_p.R780*|ABL2_uc001gmi.3_Nonsense_Mutation_p.R883*|ABL2_uc001gmh.3_Nonsense_Mutation_p.R862*|ABL2_uc010pne.1_Nonsense_Mutation_p.R759*	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	898	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ATCCCAAGTCGTGCCCCACCA	0.612000			T	ETV6	AML							
LHX4	89884	broad.mit.edu	37	1	180241097	180241097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:180241097C>T	uc001goe.1	+	5	957	c.734C>T	c.(733-735)TCT>TTT	p.S245F	uc001gof.1_RNA	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AAGGAGAGCTCTGCAGAGGAC	0.617000												
RGL1	23179	broad.mit.edu	37	1	183891428	183891428	+	Missense_Mutation	SNP	G	G	A	rs146832723		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:183891428G>A	uc001gqo.2	+	17	2234	c.2077G>A	c.(2077-2079)GCC>ACC	p.A693T	RGL1_uc001gqm.2_Missense_Mutation_p.A728T|RGL1_uc010pog.1_Missense_Mutation_p.A691T|RGL1_uc010poh.1_Missense_Mutation_p.A691T|RGL1_uc010poi.1_Missense_Mutation_p.A664T	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	693	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CTCAGACCCCGCCGAGGAGTA	0.552000											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PROX1	5629	broad.mit.edu	37	1	214171517	214171517	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:214171517G>A	uc001hkh.2	+	2	1911	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	PROX1_uc001hkg.1_Missense_Mutation_p.A547T	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	547					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCCCAGCACCGCCGAAGGGCT	0.498000												
USH2A	7399	broad.mit.edu	37	1	215802319	215802319	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:215802319C>T	uc001hku.1	-	71	15743	c.15356G>A	c.(15355-15357)CGG>CAG	p.R5119Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5119	Cytoplasmic (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATGCACTCCGGTTGCTGCG	0.512000										HNSCC(13;0.011)		
OBSCN	84033	broad.mit.edu	37	1	228404826	228404826	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:228404826G>C	uc009xez.1	+	8	2534	c.2490G>C	c.(2488-2490)TGG>TGC	p.W830C	OBSCN_uc001hsn.2_Missense_Mutation_p.W830C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	830	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACGTGCACTGGTACAAGGATG	0.657000												
OR2T6	254879	broad.mit.edu	37	1	248551682	248551682	+	Missense_Mutation	SNP	C	C	T	rs141134612	by1000genomes	TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:248551682C>T	uc001iei.1	+	1	773	c.773C>T	c.(772-774)ACG>ATG	p.T258M		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTTGTATACGTATACGCTT	0.473000												
NET1	10276	broad.mit.edu	37	10	5498109	5498109	+	Silent	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr10:5498109C>T	uc001iia.2	+	11	1395	c.1257C>T	c.(1255-1257)AAC>AAT	p.N419N	NET1_uc010qar.1_Silent_p.N238N|NET1_uc001iib.2_Silent_p.N365N|NET1_uc010qas.1_Silent_p.N238N	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	419	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						TCACACGGAACGAACGGCACT	0.483000												
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr10:89692905G>A	uc001kfb.2	+	6	1420	c.389G>A	c.(388-390)CGA>CAA	p.R130Q		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	R->M: Does not affect the ability to inhibit AKT/PKB activation.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403000	R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PDCD11	22984	broad.mit.edu	37	10	105202030	105202030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr10:105202030C>T	uc001kwy.1	+	32	4855	c.4768C>T	c.(4768-4770)CGC>TGC	p.R1590C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1590					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGAACTGTCCCGCATTGAGGA	0.537000												
DENND5A	23258	broad.mit.edu	37	11	9167339	9167339	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr11:9167339C>T	uc001mhl.2	-	17	3136	c.2881G>A	c.(2881-2883)GTA>ATA	p.V961I	DENND5A_uc001mhk.2_Missense_Mutation_p.V304I|DENND5A_uc010rbw.1_Missense_Mutation_p.V961I|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	961	PLAT.									liver(1)	1						TTGCTTGGTACGATCAGAATG	0.488000												
ANO3	63982	broad.mit.edu	37	11	26619976	26619976	+	Silent	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr11:26619976C>T	uc001mqt.3	+	15	1657	c.1512C>T	c.(1510-1512)ATC>ATT	p.I504I	ANO3_uc010rdr.1_Silent_p.I488I|ANO3_uc010rds.1_Silent_p.I343I|ANO3_uc010rdt.1_Silent_p.I358I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	504	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGGACCTTATCGAATGGGAAG	0.393000												
ADAMTS8	11095	broad.mit.edu	37	11	130284575	130284575	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr11:130284575C>T	uc001qgg.3	-	5	1775	c.1417G>A	c.(1417-1419)GCC>ACC	p.A473T	ADAMTS8_uc001qgf.2_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	473	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAAAGCTGGGCGCAGACGTCC	0.677000												
TAS2R7	50837	broad.mit.edu	37	12	10954759	10954759	+	Silent	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr12:10954759G>A	uc001qyv.2	-	1	468	c.411C>T	c.(409-411)TGC>TGT	p.C137C		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	137	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						AGAGAACCACGCACCCCAGTA	0.413000												
SLCO1B3	28234	broad.mit.edu	37	12	21068976	21068976	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr12:21068976C>A	uc001rek.2	+	15	2030	c.1904C>A	c.(1903-1905)CCA>CAA	p.P635Q	SLCO1B3_uc001rel.2_Missense_Mutation_p.P635Q|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	635	Helical; Name=12; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TTAAGATTCCCAGCACTTGTT	0.294000												
TIMELESS	8914	broad.mit.edu	37	12	56824049	56824049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr12:56824049G>A	uc001slf.2	-	10	1094	c.926C>T	c.(925-927)TCA>TTA	p.S309L	TIMELESS_uc001slg.2_Missense_Mutation_p.S308L	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	309					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TCCCAAATCTGAACTGTAGTT	0.512000												
RASSF9	9182	broad.mit.edu	37	12	86199380	86199380	+	Silent	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr12:86199380G>A	uc001taf.1	-	2	747	c.408C>T	c.(406-408)AAC>AAT	p.N136N		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	136					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						ATTTTTCTGTGTTTTGCACTA	0.423000												
N4BP2L2	10443	broad.mit.edu	37	13	33109952	33109952	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr13:33109952T>A	uc001uuk.3	-	2	1391	c.1213A>T	c.(1213-1215)ATT>TTT	p.I405F	N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.I405F|N4BP2L2_uc001uum.2_RNA	NM_014887	NP_055702	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	405											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTTAAAAGAATAAGTAACTTC	0.338000												
KL	9365	broad.mit.edu	37	13	33591098	33591098	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr13:33591098C>T	uc001uus.2	+	1	528	c.520C>T	c.(520-522)CGG>TGG	p.R174W	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	174	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGCTACTACCGGCGCCTGCT	0.721000												
THBS1	7057	broad.mit.edu	37	15	39877765	39877765	+	Splice_Site	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr15:39877765G>A	uc001zkh.2	+	7	1299	c.1120_splice	c.e7+1	p.P374_splice		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CGCTGTTGGCGTAAGTTTCTC	0.507000												
AP3B2	8120	broad.mit.edu	37	15	83346895	83346895	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr15:83346895T>C	uc010uoh.1	-	11	1384	c.1207A>G	c.(1207-1209)AAT>GAT	p.N403D	AP3B2_uc010uoi.1_Missense_Mutation_p.N403D|AP3B2_uc010uoj.1_Missense_Mutation_p.N371D|AP3B2_uc010uog.1_Missense_Mutation_p.N39D	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	403					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTGGTCTCATTGGCCAGGTTG	0.562000												
PLCG2	5336	broad.mit.edu	37	16	81916924	81916924	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr16:81916924G>A	uc002fgt.2	+	9	895	c.743G>A	c.(742-744)AGG>AAG	p.R248K	PLCG2_uc010chg.1_Missense_Mutation_p.R248K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	248					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GACTTCCAGAGGTTTCTCATA	0.562000												
MYH2	4620	broad.mit.edu	37	17	10424715	10424715	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr17:10424715C>T	uc010coi.2	-	40	5836	c.5708G>A	c.(5707-5709)CGC>CAC	p.R1903H	uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.R1903H|MYH2_uc010coj.2_Missense_Mutation_p.R670H	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1903	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTGGAGCTTGCGGAATTTAGC	0.468000												
SLC46A1	113235	broad.mit.edu	37	17	26731940	26731940	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr17:26731940C>T	uc002hbf.1	-	2	871	c.775G>A	c.(775-777)GCC>ACC	p.A259T	SLC46A1_uc002hbg.1_Missense_Mutation_p.A259T|SLC46A1_uc010wak.1_Missense_Mutation_p.A259T	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	259					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TTCTCTGGGGCGGGAGCCACA	0.532000												
ZNF569	148266	broad.mit.edu	37	19	37904164	37904164	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr19:37904164A>G	uc002ogi.2	-	6	1954	c.1396T>C	c.(1396-1398)TAT>CAT	p.Y466H	ZNF569_uc002ogh.2_Missense_Mutation_p.Y307H|ZNF569_uc002ogj.2_Missense_Mutation_p.Y490H	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	466	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACATATATAGGGTTTTTCC	0.358000												
PSG11	5680	broad.mit.edu	37	19	43519445	43519445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr19:43519445C>T	uc002ovm.1	-	4	894	c.787G>A	c.(787-789)GCA>ACA	p.A263T	PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.A269T|PSG11_uc002ovo.1_Missense_Mutation_p.A141T|PSG11_uc002ovp.1_Missense_Mutation_p.A141T	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	263	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TTAGAGTTTGCGAAGCAGGAC	0.443000												
ZNF235	9310	broad.mit.edu	37	19	44791904	44791904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr19:44791904G>A	uc002oza.3	-	5	1787	c.1684C>T	c.(1684-1686)CAG>TAG	p.Q562*	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Nonsense_Mutation_p.Q558*|ZNF235_uc010xwx.1_Nonsense_Mutation_p.Q476*	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	562	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				TGGACTCTCTGATGATTGTGA	0.458000												
CCDC88A	55704	broad.mit.edu	37	2	55523480	55523480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:55523480G>A	uc002ryv.2	-	30	5844	c.5002C>T	c.(5002-5004)CAC>TAC	p.H1668Y	CCDC88A_uc010yoz.1_Missense_Mutation_p.H1641Y|CCDC88A_uc010ypa.1_Missense_Mutation_p.H1668Y|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.H170Y|CCDC88A_uc002ryu.2_Missense_Mutation_p.H923Y|CCDC88A_uc002rys.2_Missense_Mutation_p.H626Y|CCDC88A_uc002ryw.2_Missense_Mutation_p.H952Y|CCDC88A_uc010fby.1_Missense_Mutation_p.H520Y	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1669					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTGATCTTGTGATGTCGACTC	0.428000												
LRP1B	53353	broad.mit.edu	37	2	141283858	141283858	+	Silent	SNP	T	T	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:141283858T>C	uc002tvj.1	-	48	8796	c.7824A>G	c.(7822-7824)GCA>GCG	p.A2608A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2608	Extracellular (Potential).|LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTGCATCGTGCTGATCTTG	0.428000										TSP Lung(27;0.18)		
CPS1	1373	broad.mit.edu	37	2	211512631	211512631	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:211512631C>A	uc002vee.3	+	26	3318	c.3186C>A	c.(3184-3186)AAC>AAA	p.N1062K	CPS1_uc010fur.2_Missense_Mutation_p.N1068K|CPS1_uc010fus.2_Missense_Mutation_p.N611K	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1062					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGATTCCAAACAACCTGGCAG	0.473000												
SLC23A3	151295	broad.mit.edu	37	2	220032699	220032699	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:220032699T>A	uc010zks.1	-	7	977	c.866A>T	c.(865-867)GAA>GTA	p.E289V	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.E297V|SLC23A3_uc010fwb.2_Missense_Mutation_p.N257Y|SLC23A3_uc002vjs.1_Silent_p.G141G|SLC23A3_uc002vjt.1_Silent_p.G148G	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	289	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGACAGTTCCTGGGGGAT	0.512000												
KIF1A	547	broad.mit.edu	37	2	241710462	241710462	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:241710462C>T	uc002vzy.2	-	14	1386	c.1240G>A	c.(1240-1242)GCG>ACG	p.A414T	KIF1A_uc010fzk.2_Missense_Mutation_p.A423T|KIF1A_uc002vzz.1_Missense_Mutation_p.A423T	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	414					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGGAGGCCGCGCGGCTGGAC	0.647000												
SCRT2	85508	broad.mit.edu	37	20	644940	644940	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr20:644940G>A	uc002wec.2	-	2	877	c.299C>T	c.(298-300)GCG>GTG	p.A100V	SRXN1_uc002web.2_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	scratch 2 protein	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTCACTGCCGCCTCCCCTCG	0.567000												
MAVS	57506	broad.mit.edu	37	20	3838418	3838418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr20:3838418C>T	uc002wjw.3	+	3	423	c.254C>T	c.(253-255)GCG>GTG	p.A85V	MAVS_uc002wjv.2_Missense_Mutation_p.A85V|MAVS_uc010zqn.1_Missense_Mutation_p.A85V|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	85	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						GTTGATCTCGCGGACGAAGTG	0.637000												
TSHZ2	128553	broad.mit.edu	37	20	51872642	51872642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr20:51872642G>A	uc002xwo.2	+	2	3601	c.2645G>A	c.(2644-2646)CGT>CAT	p.R882H		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	882	Homeobox; atypical.				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)			CCACAAGAGCGTATGCAAATC	0.493000												
PRAME	23532	broad.mit.edu	37	22	22892267	22892267	+	Silent	SNP	C	C	T	rs34866162		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr22:22892267C>T	uc002zwf.2	-	4	990	c.834G>A	c.(832-834)CCG>CCA	p.P278P	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.P262P|PRAME_uc010gtr.2_Silent_p.P278P|PRAME_uc002zwg.2_Silent_p.P278P|PRAME_uc002zwh.2_Silent_p.P278P|PRAME_uc002zwi.2_Silent_p.P278P|PRAME_uc002zwj.2_Silent_p.P278P|PRAME_uc002zwk.2_Silent_p.P278P	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	278					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTTCCTTCTCCGGGGAAATGT	0.502000												
CNTN6	27255	broad.mit.edu	37	3	1424860	1424860	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:1424860G>A	uc003boz.2	+	18	2668	c.2401G>A	c.(2401-2403)GAA>AAA	p.E801K	CNTN6_uc011asj.1_Missense_Mutation_p.E729K|CNTN6_uc003bpa.2_Missense_Mutation_p.E801K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	801					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGGGAAGATGGTAAGTTGTC	0.423000												
ATP2B2	491	broad.mit.edu	37	3	10401792	10401792	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:10401792C>A	uc003bvt.2	-	13	2114	c.1675G>T	c.(1675-1677)GGC>TGC	p.G559C	ATP2B2_uc003bvv.2_Missense_Mutation_p.G514C|ATP2B2_uc003bvw.2_Missense_Mutation_p.G514C|ATP2B2_uc010hdo.2_Missense_Mutation_p.G264C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	559	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGCAGGGCGCCCTCCTTCTCT	0.687000												
SLC6A20	54716	broad.mit.edu	37	3	45801497	45801497	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:45801497T>C	uc011bai.1	-	10	1605	c.1481A>G	c.(1480-1482)AAG>AGG	p.K494R	SLC6A20_uc003cow.2_Missense_Mutation_p.K144R|SLC6A20_uc011baj.1_Missense_Mutation_p.K457R	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	494	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGTCATGGCCTTAAGGTCACT	0.532000												
SETD2	29072	broad.mit.edu	37	3	47164272	47164272	+	Silent	SNP	T	T	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:47164272T>C	uc003cqs.2	-	3	1907	c.1854A>G	c.(1852-1854)TCA>TCG	p.S618S	SETD2_uc003cqv.2_Silent_p.S607S	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		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)		TTAATCGATTTGATGGAGCTG	0.318000			N|F|S|Mis		clear cell renal carcinoma							
ZBED2	79413	broad.mit.edu	37	3	111312998	111312998	+	Silent	SNP	T	T	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:111312998T>C	uc003dxy.2	-	2	936	c.51A>G	c.(49-51)AAA>AAG	p.K17K	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	17							DNA binding|metal ion binding			skin(1)	1						CTAAGTCCCCTTTTGCCTTCA	0.488000												
EPHB1	2047	broad.mit.edu	37	3	134851683	134851683	+	Silent	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:134851683C>T	uc003eqt.2	+	5	1309	c.1089C>T	c.(1087-1089)TGC>TGT	p.C363C	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	363	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GCAAAAAGTGCCGGGCAGACC	0.597000												
SLITRK3	22865	broad.mit.edu	37	3	164905876	164905876	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:164905876C>T	uc003fej.3	-	2	3187	c.2743G>A	c.(2743-2745)GTG>ATG	p.V915M	SLITRK3_uc003fek.2_Missense_Mutation_p.V915M	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	915	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						GGAGGGTGCACGTGCAGTTCC	0.532000										HNSCC(40;0.11)		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
GRSF1	2926	broad.mit.edu	37	4	71698070	71698070	+	Silent	SNP	T	T	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr4:71698070T>A	uc010iia.1	-	4	851	c.768A>T	c.(766-768)GGA>GGT	p.G256G	GRSF1_uc011caz.1_Silent_p.G138G|GRSF1_uc003hfs.2_Silent_p.G94G	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1 isoform 1	256	RRM 2.				mRNA polyadenylation		mRNA binding|nucleotide binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			TATAAGGAAGTCCTCTCAAAC	0.393000												
FRAS1	80144	broad.mit.edu	37	4	79229315	79229315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr4:79229315G>T	uc003hlb.2	+	15	2070	c.1630G>T	c.(1630-1632)GAG>TAG	p.E544*	FRAS1_uc003hkw.2_Nonsense_Mutation_p.E544*|FRAS1_uc003hky.1_Nonsense_Mutation_p.E248*|FRAS1_uc003hkz.2_Nonsense_Mutation_p.E248*|FRAS1_uc003hla.1_Nonsense_Mutation_p.E55*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	544	FU 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGGCGGCTGTGAGAGCAGCTG	0.577000												
DKK2	27123	broad.mit.edu	37	4	107847019	107847019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr4:107847019G>A	uc003hyi.2	-	2	1015	c.310C>T	c.(310-312)CGG>TGG	p.R104W	DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.R104W	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	104	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTTTTTCTCCGACACACCATG	0.512000												
INTU	27152	broad.mit.edu	37	4	128628065	128628065	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr4:128628065C>T	uc003ifk.1	+	12	2282	c.2212C>T	c.(2212-2214)CGG>TGG	p.R738W	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	738										ovary(1)	1						GGATGCAGTACGGAAGCAAAG	0.473000												
PRDM9	56979	broad.mit.edu	37	5	23521145	23521145	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:23521145C>A	uc003jgo.2	+	6	547	c.365C>A	c.(364-366)GCG>GAG	p.A122E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	122					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATGCCCAAGGCGTCATTCAGT	0.393000										HNSCC(3;0.000094)		
MAP1B	4131	broad.mit.edu	37	5	71495207	71495207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:71495207G>T	uc003kbw.3	+	5	6266	c.6025G>T	c.(6025-6027)GAA>TAA	p.E2009*	MAP1B_uc010iyw.1_Nonsense_Mutation_p.E2026*|MAP1B_uc010iyx.1_Nonsense_Mutation_p.E1883*|MAP1B_uc010iyy.1_Nonsense_Mutation_p.E1883*	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2009	MAP1B 7.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTACTCTTATGAAACCACTGA	0.453000												
GPR98	84059	broad.mit.edu	37	5	89943437	89943437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:89943437G>T	uc003kju.2	+	17	3241	c.3145G>T	c.(3145-3147)GAG>TAG	p.E1049*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1049	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGCAAGAGAGAGAGATTT	0.428000												
PCDHA12	56137	broad.mit.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:140256419G>A	uc003lic.2	+	1	1489	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A454A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	454	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652000												
PCDHB7	56129	broad.mit.edu	37	5	140553577	140553577	+	Silent	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:140553577C>T	uc003lit.2	+	1	1335	c.1161C>T	c.(1159-1161)GAC>GAT	p.D387D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	387	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCAGGACGATGTCCCCT	0.473000												
LARP1	23367	broad.mit.edu	37	5	154172296	154172296	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:154172296G>T	uc003lvp.2	+	4	1108	c.679G>T	c.(679-681)GAA>TAA	p.E227*	LARP1_uc003lvo.2_Nonsense_Mutation_p.E150*|LARP1_uc010jie.1_Nonsense_Mutation_p.E22*	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	227							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAATCAGATGAATCAGGGGA	0.522000												
FGFR4	2264	broad.mit.edu	37	5	176517537	176517537	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr5:176517537C>T	uc003mfl.2	+	3	405	c.238C>T	c.(238-240)CGG>TGG	p.R80W	FGFR4_uc003mfm.2_Missense_Mutation_p.R80W|FGFR4_uc011dfu.1_Missense_Mutation_p.R80W|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_Missense_Mutation_p.R80W|FGFR4_uc011dfw.1_Missense_Mutation_p.R80W|FGFR4_uc003mfo.2_Missense_Mutation_p.R80W	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	80	Ig-like C2-type 1.|Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.R80W(2)		lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGGCCGTGTACGGGGCTGGAG	0.652000										TSP Lung(9;0.080)		
HSPA1L	3305	broad.mit.edu	37	6	31779555	31779555	+	Silent	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr6:31779555G>A	uc003nxh.2	-	2	378	c.195C>T	c.(193-195)CCC>CCT	p.P65P	HSPA1L_uc010jte.2_Silent_p.P65P	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	65					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CAGTGTTCTGGGGATTCATTG	0.498000												
KCNK16	83795	broad.mit.edu	37	6	39285601	39285601	+	Silent	SNP	G	G	A	rs79043904		TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr6:39285601G>A	uc003ooq.2	-	3	470	c.456C>T	c.(454-456)GCC>GCT	p.A152A	KCNK16_uc003oor.3_Silent_p.A152A|KCNK16_uc010jwy.2_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	152	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						TTTCAATGGCGGCCAGATGGG	0.552000												
RNF217	154214	broad.mit.edu	37	6	125366470	125366470	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr6:125366470C>G	uc003pzs.2	+	4	458	c.120C>G	c.(118-120)TAC>TAG	p.Y40*	RNF217_uc003pzr.2_Nonsense_Mutation_p.Y97*|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	40	IBR-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGTATAAGTACTTCTTGGAAC	0.408000												
SLC22A1	6580	broad.mit.edu	37	6	160557340	160557340	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr6:160557340G>A	uc003qtc.2	+	5	1033	c.928G>A	c.(928-930)GGG>AGG	p.G310R	SLC22A1_uc003qtd.2_Missense_Mutation_p.G310R	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	310	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCAAAAGAATGGGAAGTTGCC	0.493000												
CARD11	84433	broad.mit.edu	37	7	2954991	2954991	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:2954991C>T	uc003smv.2	-	21	3123	c.2719G>A	c.(2719-2721)GAG>AAG	p.E907K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	907					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TACTTGTTCTCGGACCTGCTG	0.607000			Mis		DLBCL							
DAGLB	221955	broad.mit.edu	37	7	6449475	6449475	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:6449475A>G	uc003sqa.2	-	15	2182	c.2012T>C	c.(2011-2013)GTG>GCG	p.V671A	DAGLB_uc003spy.2_Missense_Mutation_p.V217A|DAGLB_uc003spz.2_Missense_Mutation_p.V368A|DAGLB_uc011jwt.1_Missense_Mutation_p.V485A|DAGLB_uc011jwu.1_Missense_Mutation_p.V542A|DAGLB_uc003sqb.2_Missense_Mutation_p.V390A|DAGLB_uc003sqc.2_Missense_Mutation_p.V390A|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.V630A	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	671	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGGTCAGGCCACGTCCACACT	0.587000												
SEPT14	346288	broad.mit.edu	37	7	55914311	55914311	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:55914311C>T	uc003tqz.2	-	3	191	c.74G>A	c.(73-75)CGT>CAT	p.R25H		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGTTAAACAACGAATATTATT	0.289000												
LAMB4	22798	broad.mit.edu	37	7	107677848	107677848	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:107677848T>C	uc010ljo.1	-	30	4748	c.4664A>G	c.(4663-4665)AAG>AGG	p.K1555R	LAMB4_uc003vey.2_Missense_Mutation_p.K1555R|LAMB4_uc010ljp.1_Missense_Mutation_p.K524R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1555	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TGCTTTGGCCTTCACCAAAAG	0.393000												
FLNC	2318	broad.mit.edu	37	7	128494220	128494220	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr7:128494220T>C	uc003vnz.3	+	40	6886	c.6677T>C	c.(6676-6678)CTG>CCG	p.L2226P	FLNC_uc003voa.3_Missense_Mutation_p.L2193P	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2226	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGGGACTTCCTGGGCCGGGAG	0.711000												
NAT2	10	broad.mit.edu	37	8	18258091	18258091	+	Missense_Mutation	SNP	C	C	T	rs79050330	byFrequency	TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:18258091C>T	uc003wyw.1	+	2	685	c.578C>T	c.(577-579)ACG>ATG	p.T193M		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	193			T -> M.		xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TACTTATTTACGCTTGAACCT	0.353000									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
ENTPD4	9583	broad.mit.edu	37	8	23291882	23291882	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:23291882C>T	uc003xdl.2	-	12	1734	c.1570G>A	c.(1570-1572)GTT>ATT	p.V524I	ENTPD4_uc011kzu.1_Missense_Mutation_p.V516I|ENTPD4_uc003xdm.2_Missense_Mutation_p.V516I|ENTPD4_uc011kzv.1_Missense_Mutation_p.V524I	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	524	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCCACTGAACCTCCTTGTCG	0.453000												
TRIM35	23087	broad.mit.edu	37	8	27156046	27156046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:27156046G>A	uc003xfl.1	-	2	548	c.466C>T	c.(466-468)CGG>TGG	p.R156W	TRIM35_uc010lup.1_Intron|TRIM35_uc003xfm.1_RNA	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	156					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCCTTCTCCCGCAGTGCATGC	0.602000												
SNTG1	54212	broad.mit.edu	37	8	51664620	51664620	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:51664620C>A	uc010lxy.1	+	19	1715	c.1344C>A	c.(1342-1344)AGC>AGA	p.S448R	SNTG1_uc003xqs.1_Missense_Mutation_p.S448R|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	448					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATGGCAAGAGCAAAATCAAAT	0.358000												
RIMS2	9699	broad.mit.edu	37	8	105105703	105105703	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr8:105105703G>A	uc003yls.2	+	21	2967	c.2726G>A	c.(2725-2727)CGA>CAA	p.R909Q	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R982Q|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	365					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAACAGTATCGATCAGGATGG	0.383000										HNSCC(12;0.0054)		
MUSK	4593	broad.mit.edu	37	9	113563100	113563100	+	Silent	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr9:113563100C>T	uc004bey.2	+	14	2540	c.2442C>T	c.(2440-2442)TAC>TAT	p.Y814Y	MUSK_uc004bez.1_Silent_p.Y394Y	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	814	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TCATTTACTACGTGCGAGATG	0.562000												
GOLGA2	2801	broad.mit.edu	37	9	131024860	131024860	+	Silent	SNP	C	C	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr9:131024860C>T	uc011maw.1	-	13	1048	c.1035G>A	c.(1033-1035)ACG>ACA	p.T345T	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Silent_p.T246T|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	345	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						GCAGGAGTTCCGTCATCTCTA	0.532000												
NLGN4X	57502	broad.mit.edu	37	X	5821174	5821174	+	Silent	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chrX:5821174G>A	uc010ndh.2	-	5	2046	c.1545C>T	c.(1543-1545)AAC>AAT	p.N515N	NLGN4X_uc004crp.2_Silent_p.N535N|NLGN4X_uc004crq.2_Silent_p.N515N|NLGN4X_uc010ndi.2_Silent_p.N552N|NLGN4X_uc004crr.2_Silent_p.N515N|NLGN4X_uc010ndj.2_Silent_p.N515N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	515	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GCATGACGTCGTTCTTGGAAA	0.542000												
BCOR	54880	broad.mit.edu	37	X	39923059	39923059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chrX:39923059G>A	uc004den.3	-	8	3941	c.3649C>T	c.(3649-3651)CGA>TGA	p.R1217*	BCOR_uc004dep.3_Nonsense_Mutation_p.R1183*|BCOR_uc004deo.3_Nonsense_Mutation_p.R1165*|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Nonsense_Mutation_p.R1183*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1217					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TGCTCCCATCGTTCTCTAAGG	0.542000												
MAGED2	10916	broad.mit.edu	37	X	54836552	54836552	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chrX:54836552C>G	uc004dtk.1	+	3	537	c.443C>G	c.(442-444)GCC>GGC	p.A148G	MAGED2_uc004dtl.1_Missense_Mutation_p.A148G|MAGED2_uc004dtm.1_Missense_Mutation_p.A110G|MAGED2_uc010nkc.1_Missense_Mutation_p.A148G|MAGED2_uc004dtn.1_Missense_Mutation_p.A148G|MAGED2_uc004dto.1_Missense_Mutation_p.A122G	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	148										ovary(2)|breast(1)	3						CCCTCTCAGGCCCCAGCAGAT	0.542000												
SLITRK2	84631	broad.mit.edu	37	X	144905746	144905746	+	Silent	SNP	G	G	T			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chrX:144905746G>T	uc004fcd.2	+	5	2793	c.1803G>T	c.(1801-1803)TCG>TCT	p.S601S	SLITRK2_uc010nsp.2_Silent_p.S601S|SLITRK2_uc010nso.2_Silent_p.S601S|SLITRK2_uc011mwq.1_Silent_p.S601S|SLITRK2_uc011mwr.1_Silent_p.S601S|SLITRK2_uc011mws.1_Silent_p.S601S|SLITRK2_uc004fcg.2_Silent_p.S601S|SLITRK2_uc011mwt.1_Silent_p.S601S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	601	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCGGTCGCTTAGTGTGT	0.438000												
ARID1A	8289	broad.mit.edu	37	1	27101593	27101593	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr1:27101593delA	uc001bmv.1	+	18	5248	c.4875delA	c.(4873-4875)ATAfs	p.I1625fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.I1624fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.I1408fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.I1242fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.I471fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_Translation_Start_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1625					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCGCACATAGCACCTGCCC	0.602			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
SLC4A10	57282	broad.mit.edu	37	2	162821597	162821599	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BR-6707-01A-11D-1882-08	TCGA-BR-6707-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f40887e2-d046-43db-b163-23289154966d	f115f32a-fbd4-4f02-afc8-1f7f0d5a3842	g.chr2:162821596_162821598CTTG>C	uc002ubx.4	+	22	3256_3258	c.3072_3074CTTG>C	c.(3070-3075)gacttg>gaCg	p.L1026del	SLC4A10_uc010zcs.2_In_Frame_Del_p.L1007del|SLC4A10_uc002uby.4_In_Frame_Del_p.L996del	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1026					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTTGATGGACTTGTTGTTCACG	0.369												
