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
ZNF642	339559	broad.mit.edu	37	1	40954867	40954867	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:40954867C>T	uc001cfo.2	+	4	621	c.327C>T	c.(325-327)TAC>TAT	p.Y109Y	ZNF642_uc009vwb.2_Silent_p.Y109Y|ZNF642_uc010ojk.1_Silent_p.Y109Y	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	109	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TGGAGAACTACAGCAACTTGG	0.458000												
RNF220	55182	broad.mit.edu	37	1	44878012	44878012	+	Silent	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:44878012C>A	uc001clv.1	+	2	603	c.243C>A	c.(241-243)GGC>GGA	p.G81G	RNF220_uc001clw.1_Silent_p.G81G	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	81					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						GGGTGCCAGGCACTTTTGCCA	0.488000												
ELAVL4	1996	broad.mit.edu	37	1	50666792	50666792	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:50666792G>A	uc001csb.2	+	7	1353	c.1085G>A	c.(1084-1086)CGC>CAC	p.R362H	ELAVL4_uc001cry.3_Missense_Mutation_p.R351H|ELAVL4_uc001crz.3_Missense_Mutation_p.R348H|ELAVL4_uc001csa.3_Missense_Mutation_p.R365H|ELAVL4_uc001csc.3_Missense_Mutation_p.R348H|ELAVL4_uc010omz.1_Missense_Mutation_p.R353H	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	362	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.R362H(1)		ovary(1)|pancreas(1)	2						AACGGGTACCGCCTGGGAGAC	0.443000												
WLS	79971	broad.mit.edu	37	1	68615882	68615882	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:68615882C>T	uc001def.1	-	6	1232	c.961G>A	c.(961-963)GAG>AAG	p.E321K	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.E319K|WLS_uc001deg.1_Missense_Mutation_p.E230K|WLS_uc009wbf.1_Missense_Mutation_p.E276K	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	321	Helical; Name=3; (Potential).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						ATCATGTGCTCGCCACAGAAG	0.567000												
GBP5	115362	broad.mit.edu	37	1	89728058	89728058	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:89728058T>C	uc001dnc.2	-	11	2029	c.1492A>G	c.(1492-1494)AAG>GAG	p.K498E	GBP5_uc001dnd.2_Missense_Mutation_p.K498E	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	498						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		GCTTCAGCCTTTTCAGCTTCT	0.463000												
TCHH	7062	broad.mit.edu	37	1	152085471	152085471	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:152085471G>T	uc001ezp.2	-	2	222	c.222C>A	c.(220-222)TTC>TTA	p.F74L	TCHH_uc009wne.1_Missense_Mutation_p.F74L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	74	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAATAGGAGGAATTCGTTGA	0.478000												
FLG	2312	broad.mit.edu	37	1	152280891	152280891	+	Silent	SNP	C	C	T	rs141369067	byFrequency	TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:152280891C>T	uc001ezu.1	-	3	6507	c.6471G>A	c.(6469-6471)TCG>TCA	p.S2157S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2157	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATCTACCGATTGCTCTT	0.592000									Ichthyosis			
KPRP	448834	broad.mit.edu	37	1	152732601	152732601	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:152732601C>T	uc001fal.1	+	2	595	c.537C>T	c.(535-537)TCC>TCT	p.S179S		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	179	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGATTCTCCACCCAGTGCC	0.552000												
COPA	1314	broad.mit.edu	37	1	160262393	160262393	+	Silent	SNP	T	T	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:160262393T>C	uc009wti.2	-	28	3235	c.2841A>G	c.(2839-2841)GTA>GTG	p.V947V	COPA_uc001fvv.3_Silent_p.V956V	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	947					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATTACCCCTACTTGGTCAT	0.368000												
HMCN1	83872	broad.mit.edu	37	1	186123065	186123065	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:186123065T>C	uc001grq.1	+	97	15431	c.15202T>C	c.(15202-15204)TAT>CAT	p.Y5068H	HMCN1_uc001grs.1_Missense_Mutation_p.Y637H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5068	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGAATCTGACTATAACCAGAT	0.383000												
CFHR2	3080	broad.mit.edu	37	1	196928061	196928061	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:196928061A>T	uc001gtq.1	+	5	741	c.664A>T	c.(664-666)AAG>TAG	p.K222*	CFHR2_uc001gtr.1_Nonsense_Mutation_p.K98*	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	222	Sushi 4.					extracellular region				skin(2)|ovary(1)	3						CATAAAATTAAAGTGGACAAA	0.279000												
CRB1	23418	broad.mit.edu	37	1	197313456	197313456	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:197313456G>T	uc001gtz.2	+	3	833	c.698G>T	c.(697-699)TGT>TTT	p.C233F	CRB1_uc010poz.1_Missense_Mutation_p.C164F|CRB1_uc001gty.1_Missense_Mutation_p.C233F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.C233F|CRB1_uc010ppc.1_RNA	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	233	EGF-like 6; calcium-binding (Potential).|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TCCCAGCCTTGTTTAAATGGT	0.428000												
PIK3C2B	5287	broad.mit.edu	37	1	204412703	204412703	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:204412703C>T	uc001haw.2	-	20	3369	c.2890G>A	c.(2890-2892)GAC>AAC	p.D964N	PIK3C2B_uc010pqv.1_Missense_Mutation_p.D936N	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	964					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AACTGAGAGTCCTTGAGGCCG	0.577000												
RBBP5	5929	broad.mit.edu	37	1	205066019	205066019	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:205066019G>C	uc001hbu.1	-	12	1317	c.1187C>G	c.(1186-1188)TCA>TGA	p.S396*	RBBP5_uc010prd.1_Nonsense_Mutation_p.S431*|RBBP5_uc001hbv.1_Nonsense_Mutation_p.S396*|RBBP5_uc010pre.1_Nonsense_Mutation_p.S263*	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	396					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TAGAGCCTTTGAATCTTCCAG	0.468000												
HLX	3142	broad.mit.edu	37	1	221054609	221054609	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:221054609G>T	uc001hmv.3	+	2	1123	c.666G>T	c.(664-666)CAG>CAT	p.Q222H		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	222					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		CGGCCGGCCAGTTCTTCGCAT	0.567000												
DUSP10	11221	broad.mit.edu	37	1	221879731	221879731	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:221879731C>A	uc001hmy.1	-	3	1071	c.889G>T	c.(889-891)GGG>TGG	p.G297W	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	297					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		GCGCCGCCCCCCACCTCCCGG	0.577000												
DISP1	84976	broad.mit.edu	37	1	223176630	223176630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:223176630C>T	uc001hnu.1	+	8	2038	c.1891C>T	c.(1891-1893)CGA>TGA	p.R631*		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	631	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TACAGCAATCCGATGCTTTGG	0.473000												
ITPKB	3707	broad.mit.edu	37	1	226924068	226924068	+	Silent	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:226924068G>A	uc010pvo.1	-	2	1432	c.1092C>T	c.(1090-1092)CGC>CGT	p.R364R	ITPKB_uc001hqh.2_Silent_p.R364R	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	364							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GTTCTCCATCGCGGGGCCCGC	0.652000												
TTC13	79573	broad.mit.edu	37	1	231047269	231047269	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:231047269G>C	uc001huf.3	-	20	2287	c.2256C>G	c.(2254-2256)ATC>ATG	p.I752M	TTC13_uc009xfi.2_Missense_Mutation_p.I699M|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.I698M|TTC13_uc009xfk.1_Missense_Mutation_p.I641M	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	752							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTAAGGATAAGATTAAGTTGC	0.294000												
RYR2	6262	broad.mit.edu	37	1	237666797	237666797	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:237666797A>G	uc001hyl.1	+	22	2725	c.2605A>G	c.(2605-2607)ACC>GCC	p.T869A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	869	Cytoplasmic (By similarity).|1.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCTGTGGATACCAGCCAGGT	0.428000												
RYR2	6262	broad.mit.edu	37	1	237947675	237947675	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:237947675C>T	uc001hyl.1	+	90	12783	c.12663C>T	c.(12661-12663)AGC>AGT	p.S4221S	RYR2_uc010pya.1_Silent_p.S636S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4221					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGAAGAAAGCGAGAAGGAGA	0.542000												
OR13G1	441933	broad.mit.edu	37	1	247835974	247835974	+	Missense_Mutation	SNP	A	A	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:247835974A>T	uc001idi.1	-	1	370	c.370T>A	c.(370-372)TGT>AGT	p.C124S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAGGGAAACAAATGGCCACA	0.488000												
CTNNA3	29119	broad.mit.edu	37	10	68535241	68535241	+	Missense_Mutation	SNP	T	T	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr10:68535241T>A	uc009xpn.1	-	8	1212	c.1089A>T	c.(1087-1089)TTA>TTT	p.L363F	CTNNA3_uc001jmw.2_Missense_Mutation_p.L363F|CTNNA3_uc001jmx.3_Missense_Mutation_p.L363F	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	363	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						ACATGTTGTCTAAAGCAATAT	0.368000												
TNKS2	80351	broad.mit.edu	37	10	93611020	93611020	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr10:93611020G>T	uc001khp.2	+	21	3039	c.2742G>T	c.(2740-2742)GAG>GAT	p.E914D		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	914	SAM.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				AGCTGAAGGAGATTGGAATCA	0.373000												
OR52E8	390079	broad.mit.edu	37	11	5878629	5878629	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:5878629C>T	uc010qzr.1	-	1	304	c.304G>A	c.(304-306)GGC>AGC	p.G102S	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAGGCAGCCTCCAAAAGAT	0.473000												
DBX1	120237	broad.mit.edu	37	11	20181547	20181547	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:20181547C>T	uc001mpw.1	-	1	324	c.324G>A	c.(322-324)CTG>CTA	p.L108L		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	108					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCCAAACTTCAGAAACGTCG	0.662000												
HARBI1	283254	broad.mit.edu	37	11	46637422	46637422	+	Silent	SNP	T	T	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:46637422T>C	uc001ncy.2	-	2	614	c.366A>G	c.(364-366)CCA>CCG	p.P122P	KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	122						cytoplasm|nucleus	metal ion binding|nuclease activity				0						CTTCATCAGCTGGAAAGCGAA	0.517000												
F2	2147	broad.mit.edu	37	11	46747627	46747627	+	Missense_Mutation	SNP	A	A	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:46747627A>T	uc001ndf.3	+	7	821	c.778A>T	c.(778-780)AAC>TAC	p.N260Y	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	260	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGGTGGAGAACTTCTGCCG	0.627000												
OR4C15	81309	broad.mit.edu	37	11	55321947	55321947	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:55321947G>A	uc010rig.1	+	1	165	c.165G>A	c.(163-165)ATG>ATA	p.M55I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGGGAAACATGCAAAACCAAA	0.363000										HNSCC(20;0.049)		
ESRRA	2101	broad.mit.edu	37	11	64081441	64081441	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:64081441G>A	uc001nzq.1	+	3	521	c.344G>A	c.(343-345)TGT>TAT	p.C115Y	ESRRA_uc001nzr.1_Missense_Mutation_p.C115Y|ESRRA_uc001nzs.1_Missense_Mutation_p.C115Y|ESRRA_uc009ypn.1_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	115	NR C4-type.|Nuclear receptor.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0						GAGTACAGCTGTCCGGCCTCC	0.672000												
EFEMP2	30008	broad.mit.edu	37	11	65638628	65638628	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:65638628C>G	uc001ofy.3	-	4	561	c.367G>C	c.(367-369)GAT>CAT	p.D123H	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D123H	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	123	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		CCCCACTCACCCACACAGCTG	0.632000												
GUCY1A2	2977	broad.mit.edu	37	11	106647285	106647285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:106647285G>T	uc001pjg.1	-	6	2106	c.1716C>A	c.(1714-1716)TAC>TAA	p.Y572*	GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.Y593*|GUCY1A2_uc009yxn.1_Nonsense_Mutation_p.Y572*	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	572	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.Y572Y(1)		large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTGCAACACAGTAGGCATCAC	0.443000												
ZBTB16	7704	broad.mit.edu	37	11	113935245	113935245	+	Missense_Mutation	SNP	T	T	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:113935245T>A	uc001pop.2	+	2	1487	c.1223T>A	c.(1222-1224)GTG>GAG	p.V408E	ZBTB16_uc001poo.1_Missense_Mutation_p.V408E|ZBTB16_uc001poq.2_Missense_Mutation_p.V408E	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	408	C2H2-type 1.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CAGTGCAGCGTGTGTGGGGTC	0.637000												
CADM1	23705	broad.mit.edu	37	11	115049487	115049487	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:115049487C>A	uc001ppi.3	-	9	1216	c.1087G>T	c.(1087-1089)GCA>TCA	p.A363S	CADM1_uc001ppf.3_Missense_Mutation_p.A335S|CADM1_uc001ppk.3_Missense_Mutation_p.A335S|CADM1_uc001ppj.3_Missense_Mutation_p.A364S|CADM1_uc001pph.3_Missense_Mutation_p.A126S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	363	Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCTTCACCTGCTCGGGAATCT	0.557000												
SIK3	23387	broad.mit.edu	37	11	116734399	116734399	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:116734399G>C	uc001ppy.2	-	15	1806	c.1770C>G	c.(1768-1770)ATC>ATG	p.I590M	SIK3_uc001ppz.2_Missense_Mutation_p.I489M|SIK3_uc001pqa.2_Missense_Mutation_p.I590M|SIK3_uc001ppw.2_Missense_Mutation_p.I7M|SIK3_uc001ppx.2_Nonsense_Mutation_p.S65*|SIK3_uc001pqb.2_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	590						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GCAGCTGTTTGATGCTGCTGT	0.577000												
VPS11	55823	broad.mit.edu	37	11	118942531	118942531	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:118942531C>T	uc010ryx.1	+	6	904	c.862C>T	c.(862-864)CGT>TGT	p.R288C	VPS11_uc010ryy.1_Missense_Mutation_p.R134C	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	288					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CATTGTCTCCCGTGACCGGAA	0.517000												
OR10G9	219870	broad.mit.edu	37	11	123894205	123894205	+	Silent	SNP	T	T	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:123894205T>A	uc010sad.1	+	1	486	c.486T>A	c.(484-486)ACT>ACA	p.T162T		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATATTGACTTTCCATTTGC	0.552000												
OR8A1	390275	broad.mit.edu	37	11	124440783	124440783	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:124440783C>A	uc010san.1	+	1	819	c.819C>A	c.(817-819)TTC>TTA	p.F273L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	273	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CAACTGCATTCATGTACTTAA	0.512000												
SIAE	54414	broad.mit.edu	37	11	124543599	124543599	+	Silent	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:124543599G>C	uc001qan.2	-	1	119	c.6C>G	c.(4-6)GTC>GTG	p.V2V	SIAE_uc001qao.1_Silent_p.V2V|SPA17_uc001qap.2_5'Flank	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	sialate O-acetylesterase precursor	2						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GCCCCGGCGCGACCATGCTTG	0.701000												
FOXJ2	55810	broad.mit.edu	37	12	8203212	8203212	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:8203212C>T	uc001qtu.2	+	10	2717	c.1632C>T	c.(1630-1632)CGC>CGT	p.R544R		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		GATACAATCGCCCAGGTAAGA	0.507000												
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:25398284C>A	uc001rgp.1	-	2	216	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
RAPGEF3	10411	broad.mit.edu	37	12	48132941	48132941	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:48132941G>A	uc009zkp.2	-	23	2760	c.2320C>T	c.(2320-2322)CCC>TCC	p.P774S	uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Missense_Mutation_p.P109S|RAPGEF3_uc001rpx.2_Missense_Mutation_p.P231S|RAPGEF3_uc010sln.1_Missense_Mutation_p.P271S|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.P774S|RAPGEF3_uc001rpz.3_Missense_Mutation_p.P816S	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	774					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGAAGAAGGGGCATGAAGGGG	0.368000												
TROAP	10024	broad.mit.edu	37	12	49724003	49724003	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:49724003G>A	uc001rtx.3	+	13	1542	c.1375G>A	c.(1375-1377)GGA>AGA	p.G459R	TROAP_uc009zlh.2_Missense_Mutation_p.G459R|TROAP_uc001rty.2_Missense_Mutation_p.G167R	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	459					cell adhesion	cytoplasm				ovary(1)	1						CCCTCTTAATGGAGGCTCTTC	0.542000												
MFSD5	84975	broad.mit.edu	37	12	53647296	53647296	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:53647296A>G	uc001sci.1	+	2	868	c.677A>G	c.(676-678)TAT>TGT	p.Y226C	MFSD5_uc001sch.1_Missense_Mutation_p.Y333C	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	226					transport	integral to membrane				skin(2)|ovary(1)	3						GGGGAGAACTATGACCGGCAG	0.642000												
MAP3K12	7786	broad.mit.edu	37	12	53880372	53880372	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:53880372G>C	uc001sdm.1	-	4	479	c.381C>G	c.(379-381)GAC>GAG	p.D127E	MAP3K12_uc001sdn.1_Missense_Mutation_p.D160E	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	127	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						CCCACTGCAGGTCCAGGATTT	0.612000												
LRP1	4035	broad.mit.edu	37	12	57572689	57572689	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:57572689G>C	uc001snd.2	+	28	5089	c.4623G>C	c.(4621-4623)GAG>GAC	p.E1541D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1541	EGF-like 7.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCCCTGTGAGGCCAATGGGG	0.622000												
NAV3	89795	broad.mit.edu	37	12	78415549	78415549	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:78415549A>G	uc001syp.2	+	9	2103	c.1930A>G	c.(1930-1932)ACC>GCC	p.T644A	NAV3_uc001syo.2_Missense_Mutation_p.T644A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	644						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AAATGAAGGTACCGCTTTACC	0.403000										HNSCC(70;0.22)		
LHX5	64211	broad.mit.edu	37	12	113909163	113909163	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:113909163C>G	uc001tvj.1	-	1	715	c.141G>C	c.(139-141)GAG>GAC	p.E47D		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	47	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGAGCTTGCCCTCGCGCGAGA	0.612000												
SACS	26278	broad.mit.edu	37	13	23930063	23930063	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr13:23930063A>G	uc001uon.2	-	8	1277	c.688T>C	c.(688-690)TGT>CGT	p.C230R	SACS_uc001uoo.2_Missense_Mutation_p.C83R|SACS_uc001uop.1_Missense_Mutation_p.C17R|SACS_uc001uoq.1_Missense_Mutation_p.C83R	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	230					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGATTCCAACATTGGCCTGAT	0.373000												
GPR12	2835	broad.mit.edu	37	13	27333438	27333438	+	Missense_Mutation	SNP	A	A	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr13:27333438A>C	uc010aal.2	-	2	749	c.527T>G	c.(526-528)GTC>GGC	p.V176G	GPR12_uc010tdl.1_Missense_Mutation_p.V17G	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	176	Helical; Name=4; (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CCAGCCCATGACGGGCAGCAG	0.597000												
FAM155A	728215	broad.mit.edu	37	13	107822920	107822920	+	Silent	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr13:107822920C>G	uc001vql.2	-	3	1818	c.1302G>C	c.(1300-1302)TCG>TCC	p.S434S		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	434	Helical; (Potential).					integral to membrane	binding			skin(1)	1						TCTGTGCTGCCGAGGCTGTGA	0.512000												
PSMA6	5687	broad.mit.edu	37	14	35778166	35778166	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:35778166C>A	uc001wtd.2	+	3	327	c.218C>A	c.(217-219)ACT>AAT	p.T73N	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Translation_Start_Site|PSMA6_uc010tpu.1_Translation_Start_Site	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	73					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTCAAGATAACTGAAAACATT	0.299000												
FSCB	84075	broad.mit.edu	37	14	44975763	44975763	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:44975763A>G	uc001wvn.2	-	1	737	c.428T>C	c.(427-429)ATG>ACG	p.M143T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	143						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GGGGATGTTCATCATGGTCCA	0.418000												
PYGL	5836	broad.mit.edu	37	14	51383422	51383422	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:51383422C>T	uc001wyu.2	-	9	1157	c.1030G>A	c.(1030-1032)GCA>ACA	p.A344T	PYGL_uc010tqq.1_Missense_Mutation_p.A310T|PYGL_uc001wyv.2_Missense_Mutation_p.A18T|PYGL_uc010anz.1_Missense_Mutation_p.A147T	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	344				AL -> RI (in Ref. 1; AAA52577).	glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATCGCGAGTGCAGGGTGAGTG	0.483000												
KIAA1409	57578	broad.mit.edu	37	14	93944063	93944063	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:93944063C>A	uc001ybv.1	+	1	160	c.77C>A	c.(76-78)CCA>CAA	p.P26Q	KIAA1409_uc001ybs.1_Missense_Mutation_p.P26Q|KIAA1409_uc001ybu.1_Missense_Mutation_p.P26Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	203						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TCTTTTCTACCAATGGCTATA	0.348000												
NDN	4692	broad.mit.edu	37	15	23931799	23931799	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:23931799C>T	uc001ywk.2	-	1	652	c.566G>A	c.(565-567)GGC>GAC	p.G189D		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	189	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGCAGGAGGCCTGTCATGGG	0.657000									Prader-Willi_syndrome			
OCA2	4948	broad.mit.edu	37	15	28263631	28263631	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:28263631C>A	uc001zbh.3	-	7	829	c.719G>T	c.(718-720)GGG>GTG	p.G240V	OCA2_uc010ayv.2_Missense_Mutation_p.G240V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	240	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACGACTCGGCCCACTGGCCAC	0.637000									Oculocutaneous_Albinism			
APBA2	321	broad.mit.edu	37	15	29393862	29393862	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:29393862G>T	uc001zck.2	+	9	1606	c.1399G>T	c.(1399-1401)GTA>TTA	p.V467L	APBA2_uc010azj.2_Missense_Mutation_p.V455L|APBA2_uc010uat.1_Missense_Mutation_p.V455L|APBA2_uc001zcl.2_Missense_Mutation_p.V455L|APBA2_uc001zcm.1_Missense_Mutation_p.V159L	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	467	PID.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGGAACATTGTAGTGCTGAT	0.582000												
VPS13C	54832	broad.mit.edu	37	15	62173134	62173134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:62173134G>A	uc002agz.2	-	72	9870	c.9796C>T	c.(9796-9798)CAG>TAG	p.Q3266*	VPS13C_uc002aha.2_Nonsense_Mutation_p.Q3223*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.Q3266*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.Q3223*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3266					protein localization					ovary(2)	2						GCCATTTCCTGAATGAGGACC	0.318000												
IQGAP1	8826	broad.mit.edu	37	15	91020002	91020002	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:91020002G>C	uc002bpl.1	+	24	2993	c.2892G>C	c.(2890-2892)GAG>GAC	p.E964D		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	964	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGAGCAAGGAGAAGAGAGAGA	0.348000												
TPSD1	23430	broad.mit.edu	37	16	1308365	1308365	+	Silent	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:1308365G>C	uc002clb.1	+	5	726	c.717G>C	c.(715-717)GTG>GTC	p.V239V		NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	239	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				TCTGCAAGGTGAATGGCACCT	0.642000												
CASKIN1	57524	broad.mit.edu	37	16	2236780	2236780	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:2236780C>A	uc010bsg.1	-	10	1008	c.976G>T	c.(976-978)GAC>TAC	p.D326Y		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	326	SH3.				signal transduction	cytoplasm				skin(2)	2						GTCCGGTTGTCATGGATGCAG	0.662000												
SRRM2	23524	broad.mit.edu	37	16	2811985	2811985	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:2811985A>G	uc002crk.2	+	11	2005	c.1456A>G	c.(1456-1458)AGC>GGC	p.S486G	SRRM2_uc002crj.1_Missense_Mutation_p.S390G|SRRM2_uc002crl.1_Missense_Mutation_p.S486G|SRRM2_uc010bsu.1_Missense_Mutation_p.S390G	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	486	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GAGGTCCCGTAGCCCTGCCAC	0.562000												
MYH11	4629	broad.mit.edu	37	16	15931924	15931924	+	Silent	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:15931924C>A	uc002ddy.2	-	2	293	c.186G>T	c.(184-186)CTG>CTT	p.L62L	MYH11_uc002ddv.2_Silent_p.L62L|MYH11_uc002ddw.2_Silent_p.L62L|MYH11_uc002ddx.2_Silent_p.L62L|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Silent_p.L62L	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	62	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CATTCTCCACCAGCTCCACAA	0.587000			T	CBFB	AML							
RNF40	9810	broad.mit.edu	37	16	30779423	30779423	+	Splice_Site	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:30779423G>C	uc002dzq.2	+	13	1675	c.1552_splice	c.e13-1	p.L518_splice	RNF40_uc010caa.2_Splice_Site_p.L518_splice|RNF40_uc010cab.2_Splice_Site_p.L418_splice|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Splice_Site_p.L518_splice|RNF40_uc010vfb.1_Splice_Site_p.L210_splice|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40						histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			TGCCTTTGCAGCTCCGGGCCC	0.617000												
PHKB	5257	broad.mit.edu	37	16	47533725	47533725	+	Silent	SNP	A	A	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:47533725A>C	uc002eev.3	+	3	277	c.225A>C	c.(223-225)ACA>ACC	p.T75T	PHKB_uc010vgi.1_Silent_p.T68T|PHKB_uc002eeu.3_Silent_p.T68T	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	75					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CCACTAAAACATGCGGTGGTG	0.507000												
CBFB	865	broad.mit.edu	37	16	67100583	67100583	+	Splice_Site	SNP	A	A	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:67100583A>C	uc002era.2	+	4	544	c.283_splice	c.e4-2	p.V95_splice	CBFB_uc002erb.2_Splice_Site_p.V95_splice|CBFB_uc010vja.1_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2						transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TCTGTGTCTTAGGTATATTTG	0.343000			T	MYH11	AML							
ADAD2	161931	broad.mit.edu	37	16	84229450	84229450	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:84229450C>T	uc002fhr.2	+	7	1196	c.1082C>T	c.(1081-1083)CCG>CTG	p.P361L	ADAD2_uc002fhq.2_Missense_Mutation_p.P443L|uc002fhs.1_Intron	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	361	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						GGTGGCCTCCCGCACAGCCCA	0.706000												
PSMB6	5694	broad.mit.edu	37	17	4701662	4701662	+	Missense_Mutation	SNP	T	T	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:4701662T>A	uc002fzb.2	+	6	698	c.665T>A	c.(664-666)GTA>GAA	p.V222E		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2						GAGCGGCAAGTACTTTTGGGA	0.542000												
PSMB6	5694	broad.mit.edu	37	17	4701676	4701676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:4701676C>T	uc002fzb.2	+	6	712	c.679C>T	c.(679-681)CAG>TAG	p.Q227*		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	227					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2						TTTGGGAGACCAGATACCCAA	0.517000												
TOP3A	7156	broad.mit.edu	37	17	18205295	18205295	+	Silent	SNP	A	A	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:18205295A>T	uc002gsx.1	-	8	1048	c.819T>A	c.(817-819)ACT>ACA	p.T273T	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.T171T|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	273					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						TGTGGTCATGAGTTACTATAT	0.398000												
CNTNAP1	8506	broad.mit.edu	37	17	40847844	40847844	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:40847844G>C	uc002iay.2	+	19	3514	c.3298G>C	c.(3298-3300)GTC>CTC	p.V1100L	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	1100	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTGCTCTACGTCAGTTCCTT	0.602000												
SLC4A1	6521	broad.mit.edu	37	17	42340029	42340029	+	Silent	SNP	G	G	A	rs56387601		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:42340029G>A	uc002igf.3	-	3	230	c.81C>T	c.(79-81)CCC>CCT	p.P27P	SLC4A1_uc002igg.3_Silent_p.P27P	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	27	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTGGGACTCGGGGATGTCTG	0.597000												
WNT9B	7484	broad.mit.edu	37	17	44954024	44954024	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:44954024C>T	uc002ikw.1	+	4	1051	c.1014C>T	c.(1012-1014)TGC>TGT	p.C338C	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	338					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGCAGTGGTGCTGCTACGTGG	0.652000												
NPEPPS	9520	broad.mit.edu	37	17	45695716	45695716	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:45695716C>G	uc002ilr.3	+	20	2519	c.2296C>G	c.(2296-2298)CTT>GTT	p.L766V	NPEPPS_uc010wkt.1_Missense_Mutation_p.L762V|NPEPPS_uc010wku.1_Missense_Mutation_p.L730V|NPEPPS_uc010wkv.1_Missense_Mutation_p.L320V|NPEPPS_uc002ils.1_Missense_Mutation_p.L199V	NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	766					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0						TTTCCTGTAGCTTCATAAACA	0.393000												
KPNB1	3837	broad.mit.edu	37	17	45755730	45755730	+	Silent	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:45755730C>G	uc002ilt.1	+	19	2640	c.2304C>G	c.(2302-2304)GCC>GCG	p.A768A	KPNB1_uc010wkw.1_Silent_p.A623A|KPNB1_uc010wkx.1_Silent_p.A552A	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	768					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GCTTGGAAGCCTATACTGGAA	0.468000												
OSBPL7	114881	broad.mit.edu	37	17	45893948	45893948	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:45893948G>C	uc002ilx.1	-	10	1112	c.909C>G	c.(907-909)TTC>TTG	p.F303L	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	303					lipid transport		lipid binding				0						CCAGGGCCCAGAAGCTGCGCT	0.657000												
KIF2B	84643	broad.mit.edu	37	17	51902390	51902390	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:51902390C>T	uc002iua.2	+	1	2152	c.1996C>T	c.(1996-1998)CTC>TTC	p.L666F	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	666	Potential.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						ACTAGCTGACCTCCACGTGAA	0.438000												
MED13	9969	broad.mit.edu	37	17	60042586	60042586	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:60042586G>C	uc002izo.2	-	20	4702	c.4625C>G	c.(4624-4626)TCA>TGA	p.S1542*		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1542	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GTTGGAGGATGATGAAGATGA	0.433000												
KCNH6	81033	broad.mit.edu	37	17	61613061	61613061	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:61613061C>T	uc002jay.2	+	6	1213	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V	KCNH6_uc002jax.1_Missense_Mutation_p.A378V|KCNH6_uc010wpl.1_Missense_Mutation_p.A255V|KCNH6_uc010wpm.1_Missense_Mutation_p.A378V|KCNH6_uc002jaz.1_Missense_Mutation_p.A378V	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	378	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	TTGAAGACAGCGCGGCTGCTG	0.602000												
FOXK2	3607	broad.mit.edu	37	17	80545096	80545096	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:80545096C>T	uc002kfn.2	+	8	1905	c.1734C>T	c.(1732-1734)AAC>AAT	p.N578N	FOXK2_uc002kfm.1_Silent_p.N578N|FOXK2_uc010diu.2_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	578					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TAACACAAAACGGCACTCACG	0.567000												
MYOM1	8736	broad.mit.edu	37	18	3126706	3126706	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr18:3126706G>A	uc002klp.2	-	19	3318	c.2984C>T	c.(2983-2985)GCA>GTA	p.A995V	MYOM1_uc002klq.2_Missense_Mutation_p.A899V	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	995	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TACCTTGTATGCCTCCTCACT	0.507000												
ABCA7	10347	broad.mit.edu	37	19	1041564	1041564	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:1041564C>G	uc002lqw.3	+	3	353	c.122C>G	c.(121-123)GCT>GGT	p.A41G	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.2_Missense_Mutation_p.A41G	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	41	Helical; (Potential).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTGGTGGCTGTTCGCCAC	0.632000												
MUC16	94025	broad.mit.edu	37	19	8999536	8999536	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:8999536C>A	uc002mkp.2	-	56	40843	c.40639G>T	c.(40639-40641)GTG>TTG	p.V13547L	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.V364L|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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						ATGGCATCCACTTTGGTGGCT	0.582000												
MUC16	94025	broad.mit.edu	37	19	9090173	9090173	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:9090173G>T	uc002mkp.2	-	1	1846	c.1642C>A	c.(1642-1644)CCC>ACC	p.P548T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	548	Thr-rich.|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						GATGCTGGGGGTCTCTCTGTT	0.517000												
ZNF700	90592	broad.mit.edu	37	19	12060327	12060327	+	Silent	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:12060327A>G	uc002msu.2	+	4	1614	c.1488A>G	c.(1486-1488)GAA>GAG	p.E496E	ZNF700_uc010xme.1_Silent_p.E514E|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	496	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGGACAGAAAAACACATAA	0.378000												
RFX1	5989	broad.mit.edu	37	19	14104517	14104517	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:14104517C>T	uc002mxv.2	-	2	411	c.139G>A	c.(139-141)GCT>ACT	p.A47T	RFX1_uc010dzi.2_Missense_Mutation_p.A47T	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	47					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ggggtggcagcagcggtgggt	0.134000												
BRD4	23476	broad.mit.edu	37	19	15367029	15367029	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:15367029G>T	uc002nar.2	-	9	1819	c.1597C>A	c.(1597-1599)CAG>AAG	p.Q533K	BRD4_uc002nas.2_Missense_Mutation_p.Q533K|BRD4_uc002nat.3_Missense_Mutation_p.Q533K|BRD4_uc002nau.3_Missense_Mutation_p.Q533K	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	533					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ggtttgttctgctGGGGCTGA	0.289000			T	NUT|C15orf55	lethal midline carcinoma of young people							
ZNF254	9534	broad.mit.edu	37	19	24310227	24310227	+	Silent	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:24310227A>G	uc002nru.2	+	4	1559	c.1425A>G	c.(1423-1425)TCA>TCG	p.S475S	ZNF254_uc010xrk.1_Silent_p.S390S	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	475	C2H2-type 10.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TATGGTCCTCAACCCTAACTA	0.393000												
TSHZ3	57616	broad.mit.edu	37	19	31770079	31770079	+	Missense_Mutation	SNP	A	A	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:31770079A>T	uc002nsy.3	-	2	685	c.620T>A	c.(619-621)ATC>AAC	p.I207N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	207					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCCCGTGAAGATGGAGCCATA	0.622000												
GGN	199720	broad.mit.edu	37	19	38876924	38876924	+	Silent	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:38876924G>A	uc002oij.1	-	3	1113	c.978C>T	c.(976-978)CCC>CCT	p.P326P	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.P243P	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	326	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGCGCCGAGGGAGGACCAG	0.692000												
LTBP4	8425	broad.mit.edu	37	19	41131900	41131900	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:41131900C>T	uc002ooh.1	+	31	4172	c.4172C>T	c.(4171-4173)CCT>CTT	p.P1391L	LTBP4_uc002oog.1_Missense_Mutation_p.P1354L|LTBP4_uc002ooi.1_Missense_Mutation_p.P1324L|LTBP4_uc002ooj.1_Missense_Mutation_p.P264L|LTBP4_uc002ook.1_Missense_Mutation_p.P525L|LTBP4_uc002ool.1_Missense_Mutation_p.P403L|LTBP4_uc010xvp.1_Missense_Mutation_p.P151L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1391	TB 4.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCCTCTGCCCTGCGCAGGAC	0.652000												
CIC	23152	broad.mit.edu	37	19	42794003	42794003	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:42794003A>G	uc002otf.1	+	9	1404	c.1364A>G	c.(1363-1365)GAC>GGC	p.D455G		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCTCAGCTGACGATGGCTTC	0.607000			T	DUX4	soft tissue sarcoma							
PSG3	5671	broad.mit.edu	37	19	43233472	43233472	+	Missense_Mutation	SNP	T	T	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:43233472T>G	uc002oue.2	-	5	1178	c.1046A>C	c.(1045-1047)AAC>ACC	p.N349T	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.N349T|PSG3_uc010eil.2_Missense_Mutation_p.N371T	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	349	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CAAGTAGAGGTTTTCTCCTGA	0.463000												
POLD1	5424	broad.mit.edu	37	19	50906310	50906310	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:50906310G>T	uc002psb.3	+	9	1027	c.971G>T	c.(970-972)GGC>GTC	p.G324V	POLD1_uc002psc.3_Missense_Mutation_p.G324V|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.G324V	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	324					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCTCGCAGGCATCTTCCCT	0.697000								DNA_polymerases_(catalytic_subunits)				
UBE2S	27338	broad.mit.edu	37	19	55915847	55915847	+	Splice_Site	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:55915847C>G	uc002qkx.1	-	3	520	c.152_splice	c.e3-1	p.E51_splice		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S						activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity				0	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGGGTCCCCTCTGGAGTGGAG	0.592000												
NLRP13	126204	broad.mit.edu	37	19	56410202	56410202	+	Missense_Mutation	SNP	A	A	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:56410202A>C	uc010ygg.1	-	10	2916	c.2891T>G	c.(2890-2892)CTT>CGT	p.L964R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	964	LRR 6.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCATCCTGAAGATCATTTTC	0.463000												
ASAP2	8853	broad.mit.edu	37	2	9528481	9528481	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:9528481A>G	uc002qzh.2	+	22	2529	c.2189A>G	c.(2188-2190)CAG>CGG	p.Q730R	ASAP2_uc002qzi.2_Missense_Mutation_p.Q730R	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	730	Potential.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						GGCTCCAACCAGCTTCAGTCT	0.552000												
NOL10	79954	broad.mit.edu	37	2	10729750	10729750	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:10729750C>T	uc002raq.2	-	18	1675	c.1550G>A	c.(1549-1551)AGG>AAG	p.R517K	NOL10_uc010yje.1_Missense_Mutation_p.R491K|NOL10_uc010yjf.1_Missense_Mutation_p.R467K|NOL10_uc002rap.2_Missense_Mutation_p.R467K	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	517	Potential.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTCTTCTTCCTTTTTTCACT	0.323000												
SDC1	6382	broad.mit.edu	37	2	20403851	20403851	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:20403851C>A	uc002rdo.1	-	3	649	c.350G>T	c.(349-351)CGG>CTG	p.R117L	SDC1_uc002rdp.1_Missense_Mutation_p.R117L|SDC1_uc010exv.2_Missense_Mutation_p.R117L|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	117	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCCTGCTCCCGGGCGGTGAG	0.701000												
BIRC6	57448	broad.mit.edu	37	2	32728208	32728208	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:32728208C>G	uc010ezu.2	+	49	9538	c.9404C>G	c.(9403-9405)TCT>TGT	p.S3135C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3135					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGACTCTGGTCCAAAT	0.398000												
SOS1	6654	broad.mit.edu	37	2	39213364	39213364	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:39213364C>T	uc002rrk.3	-	23	3644	c.3603G>A	c.(3601-3603)CGG>CGA	p.R1201R	SOS1_uc002rrj.3_Silent_p.R800R	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1201					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				AGATAGAGGTCCGGTCTGATA	0.473000									Noonan_syndrome			
TGOLN2	10618	broad.mit.edu	37	2	85554472	85554472	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:85554472G>A	uc010fgd.1	-	2	672	c.383C>T	c.(382-384)CCG>CTG	p.P128L	TGOLN2_uc002soz.2_Missense_Mutation_p.P128L|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.P128L|TGOLN2_uc002spc.1_Missense_Mutation_p.P128L	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	128	Extracellular (Potential).|14 X 14 AA tandem repeats.|6.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						CTGCAGCTCCGGATGCGACTT	0.587000												
RANBP2	5903	broad.mit.edu	37	2	109398786	109398786	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:109398786C>G	uc002tem.3	+	27	9089	c.8963C>G	c.(8962-8964)ACT>AGT	p.T2988S		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2988	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						CACGTTATTACTAAAACAATG	0.333000												
CNTNAP5	129684	broad.mit.edu	37	2	125504947	125504947	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:125504947C>T	uc002tno.2	+	14	2580	c.2216C>T	c.(2215-2217)GCT>GTT	p.A739V	CNTNAP5_uc010flu.2_Missense_Mutation_p.A740V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	739	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATTGCGACGCTGACAAGGAT	0.483000												
NEB	4703	broad.mit.edu	37	2	152376211	152376211	+	Silent	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:152376211G>C	uc010fnx.2	-	126	17639	c.17448C>G	c.(17446-17448)CTC>CTG	p.L5816L	NEB_uc002txr.2_Silent_p.L2239L|NEB_uc002txt.3_Silent_p.L321L	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5816	Nebulin 159.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGACTTTGTAGAGCTGGCTGT	0.259000												
CYTIP	9595	broad.mit.edu	37	2	158272554	158272554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:158272554G>A	uc002tzj.1	-	8	787	c.715C>T	c.(715-717)CGA>TGA	p.R239*	CYTIP_uc010zcl.1_Nonsense_Mutation_p.R133*	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	239					regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						CTGGATAATCGATTCCGGTCC	0.542000												
ATP5G3	518	broad.mit.edu	37	2	176046091	176046091	+	Missense_Mutation	SNP	G	G	C	rs140931538		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:176046091G>C	uc002ujz.3	-	1	301	c.31C>G	c.(31-33)CCC>GCC	p.P11A	ATP5G3_uc002uka.3_Missense_Mutation_p.P11A|ATP5G3_uc002ukb.1_Missense_Mutation_p.P11A	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	11					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.147)			ACCAGAGAGGGGGTGCAGGCG	0.652000												
TFPI	7035	broad.mit.edu	37	2	188368450	188368450	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:188368450A>G	uc002upx.2	-	2	79	c.46T>C	c.(46-48)TGC>CGC	p.C16R	TFPI_uc002upy.2_Missense_Mutation_p.C16R|TFPI_uc002upz.2_Missense_Mutation_p.C12R|TFPI_uc002uqa.2_Missense_Mutation_p.C16R|TFPI_uc002uqb.2_Missense_Mutation_p.C16R	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	16					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	AGCAGCAGGCATACAGAAGCC	0.358000												
GULP1	51454	broad.mit.edu	37	2	189406025	189406025	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:189406025G>T	uc010fru.2	+	7	840	c.379G>T	c.(379-381)GTA>TTA	p.V127L	GULP1_uc002uqc.3_Missense_Mutation_p.V127L|GULP1_uc002uqd.2_Missense_Mutation_p.V127L|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Missense_Mutation_p.V127L|GULP1_uc002uqf.2_Missense_Mutation_p.V127L|GULP1_uc002uqg.2_Missense_Mutation_p.V127L	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	127	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTGTGCTATGTATTTGACAG	0.363000												
GULP1	51454	broad.mit.edu	37	2	189406027	189406027	+	Silent	SNP	A	A	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:189406027A>T	uc010fru.2	+	7	842	c.381A>T	c.(379-381)GTA>GTT	p.V127V	GULP1_uc002uqc.3_Silent_p.V127V|GULP1_uc002uqd.2_Silent_p.V127V|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Silent_p.V127V|GULP1_uc002uqf.2_Silent_p.V127V|GULP1_uc002uqg.2_Silent_p.V127V	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	127	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TGTGCTATGTATTTGACAGCG	0.353000												
STAT4	6775	broad.mit.edu	37	2	191922752	191922752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:191922752G>A	uc002usm.1	-	13	1452	c.1198C>T	c.(1198-1200)CGA>TGA	p.R400*	STAT4_uc002usn.1_Nonsense_Mutation_p.R400*|STAT4_uc010zgk.1_Nonsense_Mutation_p.R245*|STAT4_uc002uso.2_Nonsense_Mutation_p.R400*	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	400					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAAATGTCGAAATTCTACT	0.363000												
DNAH7	56171	broad.mit.edu	37	2	196883950	196883950	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:196883950C>G	uc002utj.3	-	9	914	c.813G>C	c.(811-813)TTG>TTC	p.L271F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	271	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCATTGCATTCAAGTGATCCC	0.353000												
CST9	128822	broad.mit.edu	37	20	23586247	23586247	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:23586247C>T	uc002wtl.2	-	1	364	c.255G>A	c.(253-255)AAG>AAA	p.K85K		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	cystatin 9 precursor	85						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)					GGTCACCAACCTTTCTGTCCA	0.527000												
TRPC4AP	26133	broad.mit.edu	37	20	33591321	33591321	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:33591321C>T	uc002xbk.2	-	18	2182	c.2148G>A	c.(2146-2148)GAG>GAA	p.E716E	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.E307E|TRPC4AP_uc002xbl.2_Silent_p.E708E|TRPC4AP_uc010zur.1_Silent_p.E677E	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	716					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCTTGCTGTGCTCCATCCGCT	0.612000												
CEP250	11190	broad.mit.edu	37	20	34079123	34079123	+	Missense_Mutation	SNP	A	A	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:34079123A>C	uc002xcm.2	+	23	3511	c.2840A>C	c.(2839-2841)CAA>CCA	p.Q947P	CEP250_uc010zve.1_Missense_Mutation_p.Q315P	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	947	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCAGCCAACAACTGGAACGA	0.522000												
DLGAP4	22839	broad.mit.edu	37	20	35075102	35075102	+	Silent	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:35075102A>G	uc002xff.2	+	7	1845	c.1410A>G	c.(1408-1410)GTA>GTG	p.V470V	DLGAP4_uc010zvp.1_Silent_p.V470V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	470					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTGGACAGGTACGGGAGGCAG	0.637000												
KIAA1755	85449	broad.mit.edu	37	20	36841769	36841769	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:36841769G>C	uc002xhy.1	-	14	3550	c.3278C>G	c.(3277-3279)CCT>CGT	p.P1093R	KIAA1755_uc002xhv.1_Missense_Mutation_p.P157R|KIAA1755_uc002xhw.1_Missense_Mutation_p.P148R|KIAA1755_uc002xhx.1_Missense_Mutation_p.P371R	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1093										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GTCTAGTGGAGGCTGATCCCA	0.607000												
RBPJL	11317	broad.mit.edu	37	20	43940873	43940873	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:43940873G>A	uc002xns.2	+	6	529	c.457G>A	c.(457-459)GCC>ACC	p.A153T	RBPJL_uc002xnt.2_Missense_Mutation_p.A153T	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	153					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ATTCGGCTGCGCCAAGACCCT	0.537000											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNB1	3745	broad.mit.edu	37	20	48098857	48098857	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:48098857C>T	uc002xur.1	-	1	325	c.161G>A	c.(160-162)CGC>CAC	p.R54H	KCNB1_uc002xus.1_Missense_Mutation_p.R54H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	54	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGCCGCGTGCGGGGCAGGCG	0.667000												
SON	6651	broad.mit.edu	37	21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	rs142324795		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr21:34924118A>G	uc002yse.1	+	3	2630	c.2581A>G	c.(2581-2583)ATG>GTG	p.M861V	SON_uc002ysb.1_Missense_Mutation_p.M861V|SON_uc002ysc.2_Missense_Mutation_p.M861V|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AACTAGCTCAATGGATTCCCA	0.493000												
MGAT3	4248	broad.mit.edu	37	22	39883695	39883695	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr22:39883695G>A	uc003axv.3	+	2	582	c.343G>A	c.(343-345)GGC>AGC	p.G115S	MGAT3_uc010gxy.2_Missense_Mutation_p.G115S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	115	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					CAAGGCCGGCGGCGTCTGCTT	0.726000												
CCR8	1237	broad.mit.edu	37	3	39374532	39374532	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:39374532T>C	uc010hhr.2	+	2	848	c.710T>C	c.(709-711)ATC>ACC	p.I237T	CCR8_uc003cjm.2_Missense_Mutation_p.I154T	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	237	Cytoplasmic (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACCAAGGCCATCAGGTTGGTG	0.433000												
TLR9	54106	broad.mit.edu	37	3	52255985	52255985	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:52255985C>T	uc003dda.1	-	2	2981	c.2347G>A	c.(2347-2349)GGT>AGT	p.G783S	TLR9_uc003ddb.2_Missense_Mutation_p.G880S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	783	Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGGGCAGACCGGGCACGGCA	0.647000												
LRTM1	57408	broad.mit.edu	37	3	54952777	54952777	+	Silent	SNP	A	A	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:54952777A>T	uc003dhl.2	-	3	881	c.747T>A	c.(745-747)TCT>TCA	p.S249S	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	249	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CACCGTGGGCAGAGCCGGGCC	0.632000												
CASR	846	broad.mit.edu	37	3	122003879	122003879	+	Silent	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:122003879C>T	uc003eev.3	+	7	3450	c.3078C>T	c.(3076-3078)ACC>ACT	p.T1026T	CASR_uc003eew.3_Silent_p.T1036T	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1026	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TAGATCTGACCGTCCAGGAAA	0.597000												
MYLK	4638	broad.mit.edu	37	3	123359146	123359146	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:123359146C>T	uc003ego.2	-	28	5107	c.4825G>A	c.(4825-4827)GCC>ACC	p.A1609T	MYLK_uc010hrr.2_Missense_Mutation_p.A44T|MYLK_uc011bjv.1_Missense_Mutation_p.A409T|MYLK_uc011bjw.1_Missense_Mutation_p.A1609T|MYLK_uc003egp.2_Missense_Mutation_p.A1540T|MYLK_uc003egq.2_Missense_Mutation_p.A1609T|MYLK_uc003egr.2_Missense_Mutation_p.A1540T|MYLK_uc003egs.2_Missense_Mutation_p.A1433T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1609	Protein kinase.			A -> P (in Ref. 1; CAA59685).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCTCCTGGCCAGACCAAAG	0.537000												
RPN1	6184	broad.mit.edu	37	3	128369586	128369586	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:128369586C>G	uc003ekr.1	-	1	134	c.58G>C	c.(58-60)GCG>CCG	p.A20P	RPN1_uc011bkq.1_Intron	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	20					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		CTGCCCGGCGCCGGGGCCCAA	0.697000			T	EVI1	AML							
DHX36	170506	broad.mit.edu	37	3	154024054	154024054	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:154024054C>T	uc003ezy.3	-	6	925	c.844G>A	c.(844-846)GAA>AAA	p.E282K	DHX36_uc010hvq.2_Missense_Mutation_p.E282K|DHX36_uc003ezz.3_Missense_Mutation_p.E282K	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	282	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCACAAGATTCTGCCCTTTCT	0.338000												
LRPAP1	4043	broad.mit.edu	37	4	3521919	3521919	+	Silent	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr4:3521919G>C	uc003ghi.2	-	3	436	c.351C>G	c.(349-351)GTC>GTG	p.V117V		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	117					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGGCCAAGATGACTAGGAGAG	0.547000												
GPR125	166647	broad.mit.edu	37	4	22389842	22389842	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr4:22389842A>G	uc003gqm.1	-	19	3717	c.3452T>C	c.(3451-3453)ATT>ACT	p.I1151T	GPR125_uc010ieo.1_Missense_Mutation_p.I1007T|GPR125_uc003gql.1_Missense_Mutation_p.I278T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1151	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				GTGCATTTTAATATCATTGTC	0.468000												
ANK2	287	broad.mit.edu	37	4	114275995	114275995	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr4:114275995G>T	uc003ibe.3	+	38	6321	c.6221G>T	c.(6220-6222)GGA>GTA	p.G2074V	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.G2089V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2041					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCTCCATAGGAGTTAAGAAA	0.473000												
ADAMTS16	170690	broad.mit.edu	37	5	5191803	5191803	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:5191803G>T	uc003jdl.2	+	8	1351	c.1213G>T	c.(1213-1215)GCA>TCA	p.A405S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A405S|ADAMTS16_uc003jdj.1_Missense_Mutation_p.A405S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	405	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CACAGGATTTGCACCCATAAG	0.383000												
DNAH5	1767	broad.mit.edu	37	5	13794139	13794139	+	Missense_Mutation	SNP	C	C	T	rs140968268		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:13794139C>T	uc003jfd.2	-	48	7958	c.7916G>A	c.(7915-7917)CGA>CAA	p.R2639Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2639	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2639Q(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGTACCCATTCGTTTATCCAC	0.368000									Kartagener_syndrome			
MYO10	4651	broad.mit.edu	37	5	16682101	16682101	+	Silent	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:16682101G>A	uc003jft.3	-	31	4536	c.4068C>T	c.(4066-4068)ATC>ATT	p.I1356I	MYO10_uc011cnb.1_5'UTR|MYO10_uc011cnc.1_Silent_p.I235I|MYO10_uc011cnd.1_Silent_p.I713I|MYO10_uc011cne.1_Silent_p.I713I|MYO10_uc010itx.2_Silent_p.I978I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1356					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GGTTGGCCGTGATGATCACAA	0.577000												
CDH6	1004	broad.mit.edu	37	5	31305332	31305332	+	Missense_Mutation	SNP	A	A	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:31305332A>C	uc003jhe.1	+	7	1377	c.1051A>C	c.(1051-1053)AAT>CAT	p.N351H	CDH6_uc003jhd.1_Missense_Mutation_p.N351H	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	351	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						GGAAGCCTCCAATCCTTATGT	0.458000												
OXCT1	5019	broad.mit.edu	37	5	41850261	41850261	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:41850261G>C	uc003jmn.2	-	5	766	c.435C>G	c.(433-435)ATC>ATG	p.I145M		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	145					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	CGCCTGCACGGATCCTCTCTG	0.507000												
TRIM23	373	broad.mit.edu	37	5	64890371	64890371	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:64890371G>A	uc003jty.2	-	10	1608	c.1522C>T	c.(1522-1524)CTC>TTC	p.L508F	TRIM23_uc003jtw.2_Missense_Mutation_p.L508F|TRIM23_uc003jtx.2_Missense_Mutation_p.L508F	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	508	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AAAATCAGGAGCAGAGCATCT	0.353000												
SV2C	22987	broad.mit.edu	37	5	75621291	75621291	+	Silent	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:75621291C>A	uc003kei.1	+	13	2237	c.2103C>A	c.(2101-2103)ATC>ATA	p.I701I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	701	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CAATCCCCATCCTGCTGGCTT	0.512000												
LHFPL2	10184	broad.mit.edu	37	5	77784944	77784944	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:77784944G>C	uc003kfo.2	-	5	1139	c.463C>G	c.(463-465)CCT>GCT	p.P155A		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	155						integral to membrane					0		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CAGCCAGCAGGGTAGAGTATC	0.478000												
RGMB	285704	broad.mit.edu	37	5	98128788	98128788	+	Splice_Site	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:98128788G>C	uc003knc.2	+	5	1171	c.769_splice	c.e5-1	p.I257_splice		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B						axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTTCCCACAGATCACTATTA	0.507000												
AP3S1	1176	broad.mit.edu	37	5	115249114	115249114	+	Missense_Mutation	SNP	T	T	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:115249114T>G	uc003krl.2	+	6	625	c.509T>G	c.(508-510)CTT>CGT	p.L170R	AP3S1_uc003krk.2_Missense_Mutation_p.L148R|AP3S1_uc003krm.2_Missense_Mutation_p.L134R	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	170					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AATATGAATCTTCCTGAGATC	0.388000												
PITX1	5307	broad.mit.edu	37	5	134369448	134369448	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:134369448G>C	uc010jea.2	-	1	517	c.124C>G	c.(124-126)CCG>GCG	p.P42A	uc003laj.1_Intron|PITX1_uc011cxy.1_Missense_Mutation_p.P42A	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	42						nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TTCTCGAGCGGCTCGCGGGGG	0.776000												
SLC26A2	1836	broad.mit.edu	37	5	149357287	149357287	+	Silent	SNP	A	A	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:149357287A>C	uc003lrh.2	+	2	340	c.72A>C	c.(70-72)CCA>CCC	p.P24P		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	24	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACAGTTATCCATCTGGGATCC	0.413000												
PDGFRB	5159	broad.mit.edu	37	5	149510205	149510205	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:149510205G>C	uc003lro.2	-	9	1733	c.1264C>G	c.(1264-1266)CTA>GTA	p.L422V	PDGFRB_uc010jhd.2_Missense_Mutation_p.L261V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	422	Extracellular (Potential).|Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCTCACTTAGCTCCAGCACT	0.617000			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SOX30	11063	broad.mit.edu	37	5	157078924	157078924	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:157078924A>G	uc003lxb.1	-	1	505	c.163T>C	c.(163-165)TGC>CGC	p.C55R	SOX30_uc003lxc.1_Missense_Mutation_p.C55R|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	55					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCTCCCCGCACGACGAGGCC	0.692000												
WWC1	23286	broad.mit.edu	37	5	167798508	167798508	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:167798508G>T	uc003lzu.2	+	2	292	c.199G>T	c.(199-201)GTT>TTT	p.V67F	WWC1_uc003lzv.2_Missense_Mutation_p.V67F|WWC1_uc011den.1_Missense_Mutation_p.V67F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	67	WW 2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGACCCACAGGTTGGAGATTA	0.547000												
ADAMTS2	9509	broad.mit.edu	37	5	178555091	178555091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:178555091G>T	uc003mjw.2	-	17	2486	c.2486C>A	c.(2485-2487)TCA>TAA	p.S829*		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	829	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTACGTCAGTGAGACCCGGGT	0.572000												
ABCC10	89845	broad.mit.edu	37	6	43400111	43400111	+	Silent	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:43400111G>C	uc003ouy.1	+	3	608	c.393G>C	c.(391-393)CGG>CGC	p.R131R	ABCC10_uc003ouz.1_Silent_p.R88R	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	131						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCCACTCCCGGGGTCCCTTGG	0.647000												
C6orf154	221424	broad.mit.edu	37	6	43477513	43477513	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:43477513C>T	uc003ovk.1	-	1	912	c.11G>A	c.(10-12)AGC>AAC	p.S4N	C6orf154_uc003ovj.1_5'Flank	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	4											0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CTGGATGGAGCTGGGCAGCAT	0.562000												
TDRD6	221400	broad.mit.edu	37	6	46658067	46658067	+	Silent	SNP	T	T	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:46658067T>G	uc003oyj.2	+	1	2202	c.2202T>G	c.(2200-2202)ACT>ACG	p.T734T	TDRD6_uc010jze.2_Silent_p.T728T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	734					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ATGGTTCAACTGAACTAGTTG	0.403000												
FILIP1	27145	broad.mit.edu	37	6	76063347	76063347	+	Silent	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:76063347G>T	uc003pia.2	-	4	910	c.537C>A	c.(535-537)ACC>ACA	p.T179T	FILIP1_uc003phy.1_Silent_p.T179T|FILIP1_uc003phz.2_Silent_p.T80T|FILIP1_uc010kbe.2_Silent_p.T182T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	179										skin(3)|ovary(1)	4						ACTCGTATACGGTGCGCCTAT	0.502000												
CNR1	1268	broad.mit.edu	37	6	88853985	88853985	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:88853985T>C	uc011dzq.1	-	2	4572	c.1009A>G	c.(1009-1011)ATG>GTG	p.M337V	CNR1_uc010kbz.2_Missense_Mutation_p.M337V|CNR1_uc011dzr.1_Missense_Mutation_p.M337V|CNR1_uc011dzs.1_Missense_Mutation_p.M337V|CNR1_uc003pmq.3_Missense_Mutation_p.M337V|CNR1_uc011dzt.1_Missense_Mutation_p.M337V|CNR1_uc010kca.2_Missense_Mutation_p.M304V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	337	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTAATGTCCATGCGGGCTTGG	0.562000												
LAMA4	3910	broad.mit.edu	37	6	112486373	112486373	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:112486373C>G	uc003pvu.2	-	13	1966	c.1657G>C	c.(1657-1659)GAT>CAT	p.D553H	LAMA4_uc003pvv.2_Missense_Mutation_p.D546H|LAMA4_uc003pvt.2_Missense_Mutation_p.D546H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	553	Domain II and I.				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)		TTTATTATATCATCAAGTTCT	0.413000												
LAMA2	3908	broad.mit.edu	37	6	129725052	129725052	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:129725052C>T	uc003qbn.2	+	40	5918	c.5813C>T	c.(5812-5814)GCT>GTT	p.A1938V	LAMA2_uc003qbo.2_Missense_Mutation_p.A1938V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1938	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGATGAAGCTGAGAAAGTT	0.408000												
BMPER	168667	broad.mit.edu	37	7	34118785	34118785	+	Silent	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr7:34118785G>C	uc011kap.1	+	12	1509	c.1395G>C	c.(1393-1395)GTG>GTC	p.V465V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	465	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						TCTTGAAAGTGACCACCAAAG	0.627000												
PKD1L1	168507	broad.mit.edu	37	7	47894499	47894499	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr7:47894499G>T	uc003tny.1	-	30	4840	c.4840C>A	c.(4840-4842)CCC>ACC	p.P1614T		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1614	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AACATGACGGGAAATGCCCTT	0.393000												
ADAM28	10863	broad.mit.edu	37	8	24170996	24170996	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:24170996C>T	uc003xdy.2	+	6	562	c.479C>T	c.(478-480)CCT>CTT	p.P160L	ADAM28_uc003xdx.2_Missense_Mutation_p.P160L|ADAM28_uc011kzz.1_Intron|ADAM28_uc011laa.1_RNA	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	160					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGTATAACCCTGATGAAAAG	0.473000												
ADRA1A	148	broad.mit.edu	37	8	26722311	26722311	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:26722311G>A	uc003xfh.1	-	1	612	c.176C>T	c.(175-177)TCA>TTA	p.S59L	ADRA1A_uc003xfc.1_Missense_Mutation_p.S59L|ADRA1A_uc010lul.1_Missense_Mutation_p.S59L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.S59L|ADRA1A_uc010lum.1_Missense_Mutation_p.S59L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.S59L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	59	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTGCGTGACTGAGTGCAGGTG	0.602000												
TEX15	56154	broad.mit.edu	37	8	30703031	30703031	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:30703031G>C	uc003xil.2	-	1	3503	c.3503C>G	c.(3502-3504)TCT>TGT	p.S1168C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1168										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTTTTTCCAGAAAAGGGCTG	0.358000												
WWP1	11059	broad.mit.edu	37	8	87454884	87454884	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:87454884C>A	uc003ydt.2	+	18	2155	c.1875C>A	c.(1873-1875)AAC>AAA	p.N625K	WWP1_uc010mai.2_Missense_Mutation_p.N401K	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	625	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						AAGTTTTGAACCCAATGTATT	0.313000												
NFKBIL2	4796	broad.mit.edu	37	8	145655822	145655822	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:145655822T>C	uc011llg.1	-	25	3923	c.3908A>G	c.(3907-3909)AAG>AGG	p.K1303R	VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1303					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TTGGGGCCGCTTTTGGAGGGT	0.587000												
RLN2	6019	broad.mit.edu	37	9	5304475	5304475	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:5304475C>G	uc003zja.1	-	1	106	c.106G>C	c.(106-108)GGC>CGC	p.G36R	RLN2_uc003ziz.1_Missense_Mutation_p.G36R	NM_134441	NP_604390	P04090	REL2_HUMAN	relaxin 2 isoform 1 preproprotein	36					female pregnancy	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		AATTCGCGGCCGCATAATTTA	0.498000												
C9orf79	286234	broad.mit.edu	37	9	90500146	90500146	+	Silent	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:90500146G>C	uc004app.3	+	4	779	c.744G>C	c.(742-744)CCG>CCC	p.P248P	C9orf79_uc004apo.1_Silent_p.P60P	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	248	Pro-rich.					integral to membrane				ovary(3)	3						CACCACAGCCGCATGGTCCCC	0.627000												
C9orf79	286234	broad.mit.edu	37	9	90500153	90500153	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:90500153C>A	uc004app.3	+	4	786	c.751C>A	c.(751-753)CCC>ACC	p.P251T	C9orf79_uc004apo.1_Missense_Mutation_p.P63T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	251	Pro-rich.					integral to membrane				ovary(3)	3						GCCGCATGGTCCCCTGGCCTC	0.622000												
PTPDC1	138639	broad.mit.edu	37	9	96860706	96860706	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:96860706C>G	uc004auf.1	+	7	2036	c.1696C>G	c.(1696-1698)CAG>GAG	p.Q566E	PTPDC1_uc004aug.1_Missense_Mutation_p.Q566E|PTPDC1_uc004auh.1_Missense_Mutation_p.Q618E|PTPDC1_uc010mrj.1_Missense_Mutation_p.Q620E|PTPDC1_uc010mri.1_Missense_Mutation_p.Q618E	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	566							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						ACATGAAACCCAGGACAGTAA	0.527000												
CRB2	286204	broad.mit.edu	37	9	126132605	126132605	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:126132605C>T	uc004bnx.1	+	7	1365	c.1273C>T	c.(1273-1275)CAC>TAC	p.H425Y	CRB2_uc004bnw.1_Missense_Mutation_p.H425Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	425	Extracellular (Potential).|EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TTACGTCTGCCACTGCCCACC	0.622000												
SET	6418	broad.mit.edu	37	9	131455034	131455034	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:131455034G>C	uc004bvt.3	+	4	648	c.407G>C	c.(406-408)AGA>ACA	p.R136T	SET_uc004bvu.3_Missense_Mutation_p.R123T|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.R112T	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	136					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TCAGGTTACAGAATAGATTTT	0.373000			T	NUP214	AML							
SEC16A	9919	broad.mit.edu	37	9	139357381	139357381	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:139357381C>G	uc004chx.2	-	12	5160	c.4851G>C	c.(4849-4851)GAG>GAC	p.E1617D	SEC16A_uc004chv.3_Missense_Mutation_p.E1007D|SEC16A_uc004chw.2_Missense_Mutation_p.E1617D|SEC16A_uc010nbn.2_Missense_Mutation_p.E1617D	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1439					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACCTCTCGGTCTCTCTCTCGA	0.632000												
CXorf22	170063	broad.mit.edu	37	X	35984819	35984819	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:35984819C>G	uc004ddj.2	+	9	1607	c.1548C>G	c.(1546-1548)TTC>TTG	p.F516L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	516										large_intestine(1)|lung(1)|ovary(1)	3						ATTTAGCTTTCAACAGCATCT	0.373000												
UPRT	139596	broad.mit.edu	37	X	74519690	74519690	+	Missense_Mutation	SNP	A	A	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:74519690A>T	uc004ecb.1	+	5	812	c.683A>T	c.(682-684)GAC>GTC	p.D228V	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.D228V|UPRT_uc004ece.1_Missense_Mutation_p.D92V	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	228					nucleoside metabolic process	cytoplasm|nucleus					0						TTCCCCCCAGACATTTACCGG	0.413000												
DRP2	1821	broad.mit.edu	37	X	100492725	100492725	+	Silent	SNP	G	G	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:100492725G>T	uc004egz.2	+	5	768	c.399G>T	c.(397-399)GGG>GGT	p.G133G	DRP2_uc011mrh.1_Silent_p.G55G	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	133	Spectrin 1.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CCCTACAGGGGGATGTGGCCC	0.507000												
ARMCX6	54470	broad.mit.edu	37	X	100871542	100871542	+	Silent	SNP	G	G	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:100871542G>A	uc004ehx.2	-	3	414	c.69C>T	c.(67-69)TGC>TGT	p.C23C	ARMCX6_uc004ehy.2_Silent_p.C23C	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	23	Helical; (Potential).					integral to membrane					0						GTTTGTAAACGCAGTAGCAGG	0.403000												
RGAG1	57529	broad.mit.edu	37	X	109696087	109696087	+	Missense_Mutation	SNP	T	T	A			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:109696087T>A	uc004eor.1	+	3	2488	c.2242T>A	c.(2242-2244)TCC>ACC	p.S748T	RGAG1_uc011msr.1_Missense_Mutation_p.S748T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	748								p.S748Y(1)		lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GCAGATGAATTCCCCAACCTC	0.537000												
CD40LG	959	broad.mit.edu	37	X	135741371	135741371	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:135741371C>G	uc004faa.2	+	5	655	c.583C>G	c.(583-585)CTA>GTA	p.L195V	CD40LG_uc010nsd.2_Missense_Mutation_p.L174V	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	195	Extracellular (Potential).		L -> P (in HIGM1).		anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CAGCCTCTGCCTAAAGTCCCC	0.483000									Immune_Deficiency_with_Hyper-IgM			
CXorf40A	91966	broad.mit.edu	37	X	148627250	148627250	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:148627250C>T	uc004fdb.2	+	4	346	c.74C>T	c.(73-75)ACG>ATG	p.T25M	CXorf40A_uc011mxm.1_Missense_Mutation_p.T25M|CXorf40A_uc011mxn.1_Missense_Mutation_p.T25M|CXorf40A_uc004fdd.2_Missense_Mutation_p.T25M|CXorf40A_uc004fde.1_Missense_Mutation_p.T25M|CXorf40A_uc011mxo.1_Silent_p.D114D|CXorf40A_uc004fdg.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdf.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdh.2_Missense_Mutation_p.T25M|CXorf40A_uc010nsy.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdi.2_Missense_Mutation_p.T42M	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40	25							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACTGTGGAGACGCGCTGGCGT	0.612000												
RPS4Y2	140032	broad.mit.edu	37	Y	22930849	22930849	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrY:22930849C>G	uc011nbb.1	+	5	615	c.519C>G	c.(517-519)ATC>ATG	p.I173M		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	173					translation	ribosome	rRNA binding|structural constituent of ribosome				0						CCAGCTTTATCAAATTTGACA	0.264000												
DMBT1	1755	broad.mit.edu	37	10	124396810	124396818	+	In_Frame_Del	DEL	CTGCGGCAC	CTGCGGCAC	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr10:124396810_124396818delCTGCGGCAC	uc001lgk.1	+	51	6643_6651	c.6537_6545delCTGCGGCAC	c.(6535-6546)GGCTGCGGCACC>GGC	p.CGT2180del	DMBT1_uc001lgl.1_In_Frame_Del_p.CGT2170del|DMBT1_uc001lgm.1_In_Frame_Del_p.CGT1552del|DMBT1_uc009xzz.1_In_Frame_Del_p.CGT2179del|DMBT1_uc010qtx.1_In_Frame_Del_p.CGT900del|DMBT1_uc009yab.1_In_Frame_Del_p.CGT883del|DMBT1_uc009yac.1_In_Frame_Del_p.CGT474del	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2180_2182	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTACTCAGGCTGCGGCACCTTCAAGCAG	0.507												
GAPDH	2597	broad.mit.edu	37	12	6647143	6647156	+	Frame_Shift_Del	DEL	TTTGTCAAGCTCAT	TTTGTCAAGCTCAT	-	rs11549334		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:6647143_6647156delTTTGTCAAGCTCAT	uc001qop.1	+	8	1021_1034	c.919_932delTTTGTCAAGCTCAT	c.(919-933)TTTGTCAAGCTCATTfs	p.F307fs	GAPDH_uc009zep.1_Frame_Shift_Del_p.F265fs|GAPDH_uc001qoq.1_Frame_Shift_Del_p.F232fs|GAPDH_uc001qor.1_Frame_Shift_Del_p.F266fs|GAPDH_uc001qos.1_Frame_Shift_Del_p.F307fs|GAPDH_uc001qot.1_Frame_Shift_Del_p.F307fs|GAPDH_uc001qou.1_Frame_Shift_Del_p.F266fs|GAPDH_uc001qov.1_Frame_Shift_Del_p.F265fs|GAPDH_uc001qow.1_Frame_Shift_Del_p.F260fs|GAPDH_uc001qox.1_Frame_Shift_Del_p.F133fs	NM_002046	NP_002037	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	307_311					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding				0					NADH(DB00157)	CAACGACCACTTTGTCAAGCTCATTTCCTGGTAT	0.570											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GTF2F2	2963	broad.mit.edu	37	13	45694803	45694803	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr13:45694803delG	uc001uzw.2	+	1	173	c.13delG	c.(13-15)GGGfs	p.G5fs	GTF2F2_uc001uzv.2_Frame_Shift_Del_p.G5fs	NM_004128	NP_004119	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2,	5					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding				0		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		GGCCGAGCGCGGGGAACTCGA	0.622												
FAM181A	90050	broad.mit.edu	37	14	94395422	94395423	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:94395422_94395423delAG	uc001ybz.1	+	3	1284_1285	c.977_978delAG	c.(976-978)CAGfs	p.Q326fs	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Frame_Shift_Del_p.Q264fs|FAM181A_uc001yca.1_Frame_Shift_Del_p.Q264fs	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	326											0						GGCCTGGGGCAGAAGGTGTGCA	0.649												
BCMO1	53630	broad.mit.edu	37	16	81303874	81303888	+	In_Frame_Del	DEL	CATCGTGTTTGACGT	CATCGTGTTTGACGT	-	rs148824103		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:81303874_81303888delCATCGTGTTTGACGT	uc002fgn.1	+	7	1172_1186	c.954_968delCATCGTGTTTGACGT	c.(952-969)TGCATCGTGTTTGACGTC>TGC	p.IVFDV319del	BCMO1_uc010vnp.1_In_Frame_Del_p.IVFDV250del	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	319_323					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						AGGACGGCTGCATCGTGTTTGACGTCATTGCCTAC	0.558												
NFE2L1	4779	broad.mit.edu	37	17	46134756	46134757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:46134756_46134757insC	uc002imz.3	+	5	1515_1516	c.864_865insC	c.(862-867)GAGCCCfs	p.E288fs	NFE2L1_uc002ina.3_Frame_Shift_Ins_p.E258fs|NFE2L1_uc002inb.3_Frame_Shift_Ins_p.E258fs|NFE2L1_uc010wle.1_Frame_Shift_Ins_p.E100fs|NFE2L1_uc010wlf.1_Frame_Shift_Ins_p.E132fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	288_289					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						GTGAGAGTGAGCCCCCTGCTCT	0.485												
TTN	7273	broad.mit.edu	37	2	179437941	179437941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:179437941delA	uc010zfg.1	-	275	65438	c.65214delT	c.(65212-65214)AGTfs	p.S21738fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.S15433fs|TTN_uc010zfi.1_Frame_Shift_Del_p.S15366fs|TTN_uc010zfj.1_Frame_Shift_Del_p.S15241fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22665							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTGGTGCACTAATTCCAG	0.413												
TTN	7273	broad.mit.edu	37	2	179571225	179571250	+	Frame_Shift_Del	DEL	CTTCCTTTCATCCACCTGTAAGTTAA	CTTCCTTTCATCCACCTGTAAGTTAA	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:179571225_179571250delCTTCCTTTCATCCACCTGTAAGTTAA	uc010zfg.1	-	99	25843_25868	c.25619_25644delTTAACTTACAGGTGGATGAAAGGAAG	c.(25618-25644)GTTAACTTACAGGTGGATGAAAGGAAGfs	p.V8540fs	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.V5201fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9467_9475							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTGTTTCTTCCTTTCATCCACCTGTAAGTTAACATTACTTTC	0.336												
FAM171B	165215	broad.mit.edu	37	2	187627259	187627264	+	In_Frame_Del	DEL	GCATCA	GCATCA	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:187627259_187627264delGCATCA	uc002ups.2	+	8	2302_2307	c.2190_2195delGCATCA	c.(2188-2196)ATGCATCAG>ATG	p.HQ731del	FAM171B_uc002upr.1_In_Frame_Del_p.HQ698del|FAM171B_uc002upt.2_In_Frame_Del_p.HQ200del	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	731_732	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						TCAAAAGCATGCATCAGCCCAAGATC	0.481												
ZNF148	7707	broad.mit.edu	37	3	124952748	124952748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:124952748delT	uc003ehx.3	-	9	1308	c.822delA	c.(820-822)AAAfs	p.K274fs	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Frame_Shift_Del_p.K274fs|ZNF148_uc010hsa.2_Frame_Shift_Del_p.K274fs|ZNF148_uc003eia.3_Frame_Shift_Del_p.K274fs|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	274	C2H2-type 4.				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						GGCACATACGTTTATGTTTCA	0.378												
N4BP2	55728	broad.mit.edu	37	4	40104250	40104253	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr4:40104250_40104253delTCAA	uc003guy.3	+	4	1123_1126	c.785_788delTCAA	c.(784-789)CTCAATfs	p.L262fs	N4BP2_uc010ifq.2_Frame_Shift_Del_p.L182fs|N4BP2_uc010ifr.2_Frame_Shift_Del_p.L182fs	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	262_263						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGTAGCAGTCTCAATCAAAAACAG	0.412												
MLL3	58508	broad.mit.edu	37	7	151873650	151873657	+	Frame_Shift_Del	DEL	CGGCCAGG	CGGCCAGG	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr7:151873650_151873657delCGGCCAGG	uc003wla.2	-	38	9100_9107	c.8881_8888delCCTGGCCG	c.(8881-8889)CCTGGCCGTfs	p.P2961fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.P2022fs|MLL3_uc003wky.2_Frame_Shift_Del_p.P470fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2961_2963					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCCAAAACACGGCCAGGCGGTGCTATG	0.495			N		medulloblastoma							
WNK3	65267	broad.mit.edu	37	X	54275887	54275913	+	In_Frame_Del	DEL	TCTTCCACTTGATAAAGTATAGCTGGC	TCTTCCACTTGATAAAGTATAGCTGGC	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:54275887_54275913delTCTTCCACTTGATAAAGTATAGCTGGC	uc004dtd.1	-	17	3307_3333	c.2868_2894delGCCAGCTATACTTTATCAAGTGGAAGA	c.(2866-2895)CAGCCAGCTATACTTTATCAAGTGGAAGAT>CAT	p.956_965QPAILYQVED>H	WNK3_uc004dtc.1_In_Frame_Del_p.956_965QPAILYQVED>H	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	956_965					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						CTGCCTGTTATCTTCCACTTGATAAAGTATAGCTGGCTGCTTGGTTT	0.423												
JAK1	3716	broad.mit.edu	37	1	65339111	65339112	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:65339110_65339111C>CT	uc001dbu.1	-	4	674_675	c.425_426G>AG	c.(424-426)aagfs	p.K142fs	JAK1_uc009wam.1_Frame_Shift_Ins_p.K142fs|JAK1_uc001dbv.3_Non-coding_Transcript	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	142	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.K142fs*26(3)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CATCTGGAATCTTTTTTTTCTC	0.480			Mis		ALL							
SPTBN1	6711	broad.mit.edu	37	2	54864881	54864881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:54864880_54864880AC>A	uc002rxu.3	+	17	4047	c.3798_3798AC>A	c.(3796-3798)gaafs	p.E1266fs	SPTBN1_uc002rxx.3_Frame_Shift_Del_p.E1253fs	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1266					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGCCAGTGAACTTTTGATGA	0.348												
CASP8	841	broad.mit.edu	37	2	202151284	202151295	+	In_Frame_Del	DEL	ACTAAGAAAAAA	ACTAAGAAAAAA	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:202151283_202151294CACTAAGAAAAAA>C	uc002uxr.1	+	9	1615_1626	c.1406_1417CACTAAGAAAAAA>C	c.(1405-1419)acactaagaaaaaaa>aCaa	p.LRKK470del	CASP8_uc002uxq.1_In_Frame_Del_p.LRKK455del|CASP8_uc002uxp.1_In_Frame_Del_p.LRKK487del|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_In_Frame_Del_p.LRKK529del|CASP8_uc002uxw.1_In_Frame_Del_p.LRKK455del|CASP8_uc010ftf.2_In_Frame_Del_p.LRKK386del	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	470					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.K532fs*>7(1)|p.K490fs*>7(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTACTTTCACACTAAGAAAAAAACTTGTCTT	0.410										HNSCC(4;0.00038)		
HIVEP1	3096	broad.mit.edu	37	6	12121963	12121978	+	Frame_Shift_Del	DEL	GCTACAAAGGCAGCAG	GCTACAAAGGCAGCAG	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:12121962_12121977AGCTACAAAGGCAGCAG>A	uc003nac.3	+	3	2113_2128	c.1934_1949AGCTACAAAGGCAGCAG>A	c.(1933-1950)cagctacaaaggcagcagfs	p.Q645fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	645					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTACACGCCCAGCTACAAAGGCAGCAGGCTACCGAT	0.500												
HSF1	3297	broad.mit.edu	37	8	145532648	145532662	+	In_Frame_Del	DEL	CAAGTACTTCAAGCA	CAAGTACTTCAAGCA	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:145532647_145532661CCAAGTACTTCAAGCA>C	uc003zbt.4	+	1	343_357	c.173_187CCAAGTACTTCAAGCA>C	c.(172-189)cccaagtacttcaagcac>cCac	p.KYFKH59del	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	59						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GAGGTGCTGCCCAAGTACTTCAAGCACAACAACAT	0.628												
C8orf33	65265	broad.mit.edu	37	8	146278248	146278248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:146278247_146278247CG>C	uc003zfc.4	+	1	336	c.282_282CG>C	c.(280-282)ctcfs	p.L94fs	C8orf33_uc003zfd.3_Non-coding_Transcript	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	Homo sapiens chromosome 8 open reading frame 33 (C8orf33), mRNA.	94										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CAGAGAAACTCGCCCCAGAAG	0.582												
ABCA1	19	broad.mit.edu	37	9	107553271	107553278	+	Frame_Shift_Del	DEL	TGATTTTC	TGATTTTC	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:107553270_107553277ATGATTTTC>A	uc004bcl.3	-	43	6257_6264	c.5853_5860GAAAATCAT>T	c.(5851-5862)ggaaaatcatcafs	p.G1951fs		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1951	ABC transporter 2.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGAAAGTTGATGATTTTCCAGCCCCAT	0.380												
WNT1	7471	broad.mit.edu	37	12	49373285	49373285	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:49373284_49373284GC>G	uc001rsu.3	+	1	336	c.138_138GC>G	c.(136-138)ctgfs	p.L46fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	46					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CCACGAACCTGCTTACAGACT	0.557												
NFE2L1	4779	broad.mit.edu	37	17	46134757	46134758	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:46134756_46134757G>GC	uc002imz.4	+	4	1515_1516	c.864_865G>GC	c.(862-867)gagcccfs	p.E288fs	NFE2L1_uc002ina.4_Frame_Shift_Ins_p.E258fs|NFE2L1_uc002inb.4_Frame_Shift_Ins_p.E258fs|NFE2L1_uc010wle.2_Frame_Shift_Ins_p.E100fs|NFE2L1_uc010wlf.2_Frame_Shift_Ins_p.E132fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	288	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGAGAGTGAGCCCCCTGCTCT	0.485												
