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
CLCA1	1179	broad.mit.edu	37	1	86965518	86965518	+	Silent	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:86965518G>A	uc001dlt.2	+	14	2664	c.2535G>A	c.(2533-2535)CAG>CAA	p.Q845Q		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	845					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTGCTATTCAGGCTGTTGATA	0.408000												
EPS8L3	79574	broad.mit.edu	37	1	110294652	110294652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:110294652G>A	uc001dyr.1	-	15	1544	c.1399C>T	c.(1399-1401)CGG>TGG	p.R467W	EPS8L3_uc001dys.1_Missense_Mutation_p.R437W|EPS8L3_uc001dyq.1_Missense_Mutation_p.R468W|EPS8L3_uc009wfm.1_Missense_Mutation_p.R404W|EPS8L3_uc009wfn.1_Missense_Mutation_p.R412W	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	467	SH3.					cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GTCAGTTCCCGTGGGTTCCTA	0.602000												
KCND3	3752	broad.mit.edu	37	1	112318860	112318860	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:112318860G>C	uc001ebu.1	-	8	2287	c.1807C>G	c.(1807-1809)CCA>GCA	p.P603A	KCND3_uc001ebv.1_Missense_Mutation_p.P584A	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	603	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGCAGTTTGGTCTCAGTCCG	0.567000												
KCND3	3752	broad.mit.edu	37	1	112318869	112318869	+	Missense_Mutation	SNP	C	C	T	rs149344567		TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:112318869C>T	uc001ebu.1	-	8	2278	c.1798G>A	c.(1798-1800)GGA>AGA	p.G600R	KCND3_uc001ebv.1_Missense_Mutation_p.G581R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	600	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGTCTCAGTCCGTCGTCTGCT	0.562000												
FCRLA	84824	broad.mit.edu	37	1	161681755	161681755	+	Silent	SNP	A	A	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:161681755A>G	uc001gbe.2	+	5	842	c.600A>G	c.(598-600)GTA>GTG	p.V200V	FCRLA_uc001gbd.2_Silent_p.V194V|FCRLA_uc001gbf.2_Silent_p.V105V|FCRLA_uc001gbg.2_Silent_p.V54V|FCRLA_uc009wuo.2_Silent_p.V60V|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	177	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCAGAGCTGTACCCTCAGCTG	0.522000												
C1orf65	164127	broad.mit.edu	37	1	223568231	223568231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:223568231C>T	uc001hoa.2	+	1	1517	c.1414C>T	c.(1414-1416)CGC>TGC	p.R472C		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	472	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCGGCAACGCGAGCTGAG	0.607000												
TRIM67	440730	broad.mit.edu	37	1	231339757	231339757	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:231339757G>A	uc009xfn.1	+	6	1721	c.1679G>A	c.(1678-1680)CGG>CAG	p.R560Q		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	560	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGACAGTTCCGGGTGAGGCCT	0.632000												
OR2M3	127062	broad.mit.edu	37	1	248366497	248366497	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:248366497C>A	uc010pzg.1	+	1	128	c.128C>A	c.(127-129)TCT>TAT	p.S43Y		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGAAACTCTGTCATGGTT	0.547000												
SH3BP5L	80851	broad.mit.edu	37	1	249108783	249108783	+	Silent	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:249108783C>T	uc001iew.1	-	5	954	c.402G>A	c.(400-402)GCG>GCA	p.A134A	SH3BP5L_uc010pzp.1_Silent_p.A27A|SH3BP5L_uc010pzq.1_Silent_p.A102A|SH3BP5L_uc001iev.1_Silent_p.A15A	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	134	Potential.										0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGTACCGCAGCGCTGCCTTCT	0.607000												
PHYH	5264	broad.mit.edu	37	10	13336443	13336443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:13336443G>T	uc001imf.2	-	4	487	c.399C>A	c.(397-399)TAC>TAA	p.Y133*	PHYH_uc001ime.2_Nonsense_Mutation_p.Y33*|PHYH_uc001img.2_Nonsense_Mutation_p.Y114*	NM_006214	NP_006205	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	133					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GGAGAGTGCAGTATCTGAAGA	0.443000												
CUBN	8029	broad.mit.edu	37	10	16990548	16990548	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:16990548G>A	uc001ioo.2	-	35	5190	c.5138C>T	c.(5137-5139)ACG>ATG	p.T1713M		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1713	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATCTCAGCGTCAGGGCGCT	0.512000												
RASSF4	83937	broad.mit.edu	37	10	45486417	45486417	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:45486417G>T	uc001jbo.2	+	9	841	c.707G>T	c.(706-708)TGC>TTC	p.C236F	RASSF4_uc001jbp.2_Missense_Mutation_p.C267F|RASSF4_uc009xmn.2_Missense_Mutation_p.C166F|RASSF4_uc001jbq.2_Missense_Mutation_p.C133F|RASSF4_uc001jbt.2_Missense_Mutation_p.C193F	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	236	Ras-associating.				cell cycle|signal transduction		protein binding			large_intestine(1)	1						TTAAAAGACTGCGAGTACCCG	0.468000												
CTNNA3	29119	broad.mit.edu	37	10	67726396	67726396	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:67726396G>T	uc009xpn.1	-	17	2497	c.2374C>A	c.(2374-2376)CTG>ATG	p.L792M	CTNNA3_uc001jmw.2_Missense_Mutation_p.L792M	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	792					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						TCTCCTCCCAGGTTCTGGATC	0.448000												
KIAA1279	26128	broad.mit.edu	37	10	70775550	70775550	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:70775550A>G	uc001joy.2	+	7	1340	c.1244A>G	c.(1243-1245)TAT>TGT	p.Y415C		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	415					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						ATTGATGGTTATGTCACTGAC	0.403000												
HSPA12A	259217	broad.mit.edu	37	10	118451920	118451920	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr10:118451920G>A	uc001lct.2	-	6	710	c.605C>T	c.(604-606)ACG>ATG	p.T202M	HSPA12A_uc001lcu.2_Missense_Mutation_p.T119M	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	202							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GGCAGGCACCGTGATGACCCA	0.577000												
OR4C13	283092	broad.mit.edu	37	11	49974639	49974639	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:49974639C>T	uc010rhz.1	+	1	665	c.665C>T	c.(664-666)TCC>TTC	p.S222F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						ATACTGTACTCCTTAAAGACC	0.478000												
FDXACB1	91893	broad.mit.edu	37	11	111750129	111750129	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:111750129C>T	uc001pmc.3	-	1	25	c.-272G>A	c.(-274--270)GTGTG>GTATG		ALG9_uc010rwo.1_Translation_Start_Site|FDXACB1_uc009yyi.2_Translation_Start_Site|C11orf1_uc001pmd.2_5'UTR|C11orf1_uc001pme.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain						phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						GACTTCATCACACCTGCATGA	0.577000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZBTB16	7704	broad.mit.edu	37	11	114112981	114112981	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:114112981C>T	uc001pop.2	+	5	1810	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	ZBTB16_uc001poq.2_Missense_Mutation_p.R516C	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	516					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)		CGCGGGCGTGCGCAGCTACAT	0.627000												
DSCAML1	57453	broad.mit.edu	37	11	117395775	117395775	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:117395775T>C	uc001prh.1	-	5	864	c.862A>G	c.(862-864)ATC>GTC	p.I288V	DSCAML1_uc001pri.1_Missense_Mutation_p.I92V	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	228	Ig-like C2-type 3.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCATCCAGGATGGTGGGGATC	0.677000												
MFRP	83552	broad.mit.edu	37	11	119217033	119217033	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr11:119217033G>A	uc001pwj.2	-	2	266	c.106C>T	c.(106-108)CCC>TCC	p.P36S	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.P36S	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	62	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AAAACTGGGGGAGGGCAGGGT	0.637000												
VWF	7450	broad.mit.edu	37	12	6128308	6128308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:6128308G>A	uc001qnn.1	-	28	4526	c.4276C>T	c.(4276-4278)CGC>TGC	p.R1426C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1426	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	TCGATGAGGCGGATCTGCTTG	0.572000												
CHD4	1108	broad.mit.edu	37	12	6692411	6692411	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:6692411C>A	uc001qpo.2	-	26	4177	c.4013G>T	c.(4012-4014)AGA>ATA	p.R1338I	CHD4_uc001qpn.2_Missense_Mutation_p.R1331I|CHD4_uc001qpp.2_Missense_Mutation_p.R1335I|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1338					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTTACGGATTCTTTTTCCTTT	0.552000												
EMG1	10436	broad.mit.edu	37	12	7083744	7083744	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:7083744A>G	uc001qsh.3	+	5	444	c.301A>G	c.(301-303)AAC>GAC	p.N101D	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_RNA	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1	101					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0						TAGTCCCCTGAACCGAGCTGG	0.488000												
CSAD	51380	broad.mit.edu	37	12	53566164	53566164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:53566164C>T	uc001sby.2	-	5	436	c.310G>A	c.(310-312)GGG>AGG	p.G104R	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.G131R|CSAD_uc001sbz.2_Missense_Mutation_p.G104R|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.G104R	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	104					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATAATGCGCCCGGCCAGAGCA	0.567000									Hereditary_Prostate_Cancer			
SRGAP1	57522	broad.mit.edu	37	12	64485106	64485106	+	Missense_Mutation	SNP	G	G	A	rs149964620		TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:64485106G>A	uc010ssp.1	+	12	1543	c.1487G>A	c.(1486-1488)CGC>CAC	p.R496H	SRGAP1_uc001srv.2_Intron	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	496					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCCAGGCCCCGCTCACAGTAT	0.453000												
LGR5	8549	broad.mit.edu	37	12	71833964	71833964	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:71833964C>T	uc001swl.2	+	1	152	c.104C>T	c.(103-105)CCC>CTC	p.P35L	TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.P35L|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	35	LRRNT.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						AGGGGCTGCCCCACACACTGT	0.662000												
NOS1	4842	broad.mit.edu	37	12	117723124	117723124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr12:117723124C>T	uc001twm.1	-	7	1990	c.1304G>A	c.(1303-1305)CGT>CAT	p.R435H		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	435					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTGCAGTCACGGGCATCGAA	0.557000												
SYNE2	23224	broad.mit.edu	37	14	64596520	64596520	+	Silent	SNP	G	G	C			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr14:64596520G>C	uc001xgm.2	+	75	14270	c.14040G>C	c.(14038-14040)GTG>GTC	p.V4680V	SYNE2_uc001xgl.2_Silent_p.V4680V|SYNE2_uc010apy.2_Silent_p.V1065V|SYNE2_uc010apz.1_Silent_p.V572V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4680	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATATACAGTGGAGCTGGAGA	0.403000												
CCDC88C	440193	broad.mit.edu	37	14	91749697	91749697	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr14:91749697C>T	uc010aty.2	-	26	4705	c.4606G>A	c.(4606-4608)GCC>ACC	p.A1536T	CCDC88C_uc001xzj.2_Missense_Mutation_p.A60T|CCDC88C_uc001xzi.2_5'UTR	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1536					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GGGTGCCGGGCGATGGGGGTG	0.642000												
IL16	3603	broad.mit.edu	37	15	81592486	81592486	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr15:81592486C>T	uc002bgh.3	+	14	3195	c.2819C>T	c.(2818-2820)CCG>CTG	p.P940L	IL16_uc010blq.1_Missense_Mutation_p.P894L|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P982L|IL16_uc002bgg.2_Missense_Mutation_p.P940L|IL16_uc002bgi.1_Missense_Mutation_p.P330L|IL16_uc002bgj.2_Missense_Mutation_p.P434L|IL16_uc002bgk.2_Missense_Mutation_p.P239L|IL16_uc002bgl.1_Missense_Mutation_p.P239L|IL16_uc010unq.1_Missense_Mutation_p.P239L	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	940					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						GGCCCGGACCCGCTCCTAAGG	0.657000												
ZNF263	10127	broad.mit.edu	37	16	3334025	3334025	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr16:3334025G>T	uc002cuq.2	+	1	539	c.207G>T	c.(205-207)TGG>TGT	p.W69C	ZNF263_uc010uww.1_Intron|ZNF263_uc002cup.2_Missense_Mutation_p.W69C	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	69	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GCCATGGGTGGCTTCGGCCTG	0.637000												
CNGB1	1258	broad.mit.edu	37	16	57931809	57931809	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr16:57931809C>T	uc002emt.2	-	30	3051	c.2986G>A	c.(2986-2988)GGC>AGC	p.G996S	CNGB1_uc010cdh.2_Missense_Mutation_p.G990S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	996	Cytoplasmic (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ATCTCACGGCCGATCTCCCCC	0.502000												
PRPF8	10594	broad.mit.edu	37	17	1586851	1586851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:1586851C>T	uc002fte.2	-	3	359	c.245G>A	c.(244-246)CGC>CAC	p.R82H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	82						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTTGTCATGGCGGAACTTCCT	0.473000												
MYOCD	93649	broad.mit.edu	37	17	12656514	12656514	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:12656514C>A	uc002gnn.2	+	10	2208	c.1909C>A	c.(1909-1911)CAT>AAT	p.H637N	MYOCD_uc002gno.2_Missense_Mutation_p.H637N|MYOCD_uc002gnp.1_Missense_Mutation_p.H541N|MYOCD_uc002gnq.2_Missense_Mutation_p.H356N	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	637					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCCCCTCAGCATTCACCGCT	0.547000												
SLC6A4	6532	broad.mit.edu	37	17	28537598	28537598	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:28537598G>A	uc002hey.3	-	11	1928	c.1384C>T	c.(1384-1386)CGG>TGG	p.R462W	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	462					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AACCGCTCCCGGCGCTTGGCC	0.597000												
TBX4	9496	broad.mit.edu	37	17	59557598	59557598	+	Silent	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:59557598C>T	uc002izi.2	+	7	984	c.939C>T	c.(937-939)CTC>CTT	p.L313L	TBX4_uc010ddo.2_Silent_p.L313L|TBX4_uc010woy.1_Silent_p.L313L	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	313					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						ACTCACAGCTCGCGGAGCCGC	0.647000												
DAPK3	1613	broad.mit.edu	37	19	3959148	3959148	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:3959148C>T	uc002lzc.1	-	8	1409	c.1316G>A	c.(1315-1317)CGC>CAC	p.R439H	DAPK3_uc002lzb.1_Missense_Mutation_p.R176H|DAPK3_uc002lzd.1_Missense_Mutation_p.R439H	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	439	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGGGCGCGCACGAGGTC	0.711000												
KIAA1543	57662	broad.mit.edu	37	19	7682912	7682912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:7682912C>T	uc002mgv.3	+	17	3820	c.3719C>T	c.(3718-3720)ACT>ATT	p.T1240I	KIAA1543_uc002mgu.3_Missense_Mutation_p.T1267I|KIAA1543_uc002mgw.2_Missense_Mutation_p.T370I	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	1240	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						AAACCCACCACTCCCAAGAAG	0.672000												
LPHN1	22859	broad.mit.edu	37	19	14262032	14262032	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:14262032C>G	uc010xnn.1	-	24	4374	c.4078G>C	c.(4078-4080)GAG>CAG	p.E1360Q	LPHN1_uc010xno.1_Missense_Mutation_p.E1355Q|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1360	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CTCTCCGACTCGTCCAGATCG	0.692000												
OCEL1	79629	broad.mit.edu	37	19	17337947	17337947	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:17337947C>T	uc002nfp.2	+	3	393	c.391C>T	c.(391-393)CCT>TCT	p.P131S		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	131										central_nervous_system(1)	1						CGCCAAGAAGCCTATTGGAGC	0.597000												
ZNF160	90338	broad.mit.edu	37	19	53572897	53572897	+	Missense_Mutation	SNP	C	C	T	rs145414197		TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr19:53572897C>T	uc010eqk.2	-	7	1306	c.890G>A	c.(889-891)CGT>CAT	p.R297H	ZNF160_uc002qaq.3_Missense_Mutation_p.R297H|ZNF160_uc002qar.3_Missense_Mutation_p.R297H	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	297	C2H2-type 2.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		TAGATTTGAACGAACAGTAAA	0.413000												
C2orf53	339779	broad.mit.edu	37	2	27360429	27360429	+	Silent	SNP	G	G	T	rs145326504	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:27360429G>T	uc002rjb.2	-	3	1349	c.769C>A	c.(769-771)CGG>AGG	p.R257R	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	257											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGGGCCGGAGGCACACC	0.647000												
VIT	5212	broad.mit.edu	37	2	36982155	36982155	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:36982155T>C	uc002rpl.2	+	5	588	c.367T>C	c.(367-369)TCG>CCG	p.S123P	VIT_uc002rpk.2_Missense_Mutation_p.S116P|VIT_uc010ynf.1_Missense_Mutation_p.S116P|VIT_uc002rpm.2_Missense_Mutation_p.S116P|VIT_uc010ezv.2_Missense_Mutation_p.S116P|VIT_uc010ezw.2_Missense_Mutation_p.S116P	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	123	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CGGTGTCCAATCGTTATCCCT	0.443000												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848398	48848398	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:48848398C>G	uc010yol.1	+	4	2375	c.2328C>G	c.(2326-2328)CAC>CAG	p.H776Q	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.H776Q|GTF2A1L_uc002rws.1_Missense_Mutation_p.H72Q|GTF2A1L_uc010yom.1_Missense_Mutation_p.H38Q|GTF2A1L_uc002rwt.2_Missense_Mutation_p.H72Q	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	776					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTGCCGCACAGCTTGCACC	0.408000												
MTIF2	4528	broad.mit.edu	37	2	55470638	55470638	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:55470638C>T	uc002ryn.2	-	13	2215	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	MTIF2_uc010yox.1_Missense_Mutation_p.R162Q|MTIF2_uc002ryo.2_Missense_Mutation_p.R493Q	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	493					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTCTAAAAACCGTAGAATTGA	0.343000												
NEB	4703	broad.mit.edu	37	2	152420119	152420119	+	Splice_Site	SNP	C	C	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:152420119C>G	uc010fnx.2	-	91	13781	c.13590_splice	c.e91+1	p.A4530_splice	NEB_uc002txr.2_Splice_Site_p.A953_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3						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)		CATTTACTTACCGCACTCCTC	0.468000												
SCN1A	6323	broad.mit.edu	37	2	166852556	166852556	+	Silent	SNP	C	C	T	rs78041051	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:166852556C>T	uc010zcz.1	-	24	4533	c.4515G>A	c.(4513-4515)TCG>TCA	p.S1505S		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1516						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1505L(1)		ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCGGTTTTTTCGATCCTAATT	0.328000												
OSBPL6	114880	broad.mit.edu	37	2	179197373	179197373	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:179197373G>T	uc002ulx.2	+	7	756	c.378G>T	c.(376-378)CAG>CAT	p.Q126H	OSBPL6_uc002ulw.2_Missense_Mutation_p.Q126H|OSBPL6_uc002uly.2_Missense_Mutation_p.Q126H|OSBPL6_uc010zfe.1_Missense_Mutation_p.Q126H|OSBPL6_uc002ulz.2_Missense_Mutation_p.Q126H|OSBPL6_uc002uma.2_Missense_Mutation_p.Q105H	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	126	PH.				lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCAGATTCAGAAAGGAAAGG	0.358000												
ITGA4	3676	broad.mit.edu	37	2	182350607	182350607	+	Splice_Site	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:182350607G>A	uc002unu.2	+	10	1805	c.1042_splice	c.e10-1	p.G348_splice	ITGA4_uc010zfl.1_Splice_Site_p.G348_splice	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor						blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTCTATCTAGGGAGCAGTAA	0.368000												
SCG2	7857	broad.mit.edu	37	2	224462648	224462648	+	Silent	SNP	C	C	T	rs143843249	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:224462648C>T	uc002vnm.2	-	2	1486	c.1353G>A	c.(1351-1353)TCG>TCA	p.S451S		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	451					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGGAAAATACGACGTTTTCT	0.488000												
COL4A4	1286	broad.mit.edu	37	2	227919448	227919448	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr2:227919448G>A	uc010zlt.1	-	31	3376	c.2722C>T	c.(2722-2724)CGG>TGG	p.R908W		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	908	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCAGCCCCCGGGGTCCTGGT	0.433000												
PROKR2	128674	broad.mit.edu	37	20	5294853	5294853	+	Missense_Mutation	SNP	C	C	T	rs146963803	by1000genomes	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr20:5294853C>T	uc010zqw.1	-	1	163	c.163G>A	c.(163-165)GTC>ATC	p.V55I	PROKR2_uc010zqx.1_Missense_Mutation_p.V55I|PROKR2_uc010zqy.1_Missense_Mutation_p.V55I|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	55	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ATGCCAATGACGATCTTGGCT	0.517000										HNSCC(71;0.22)		
CHD6	84181	broad.mit.edu	37	20	40033670	40033670	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr20:40033670C>T	uc002xka.1	-	37	7889	c.7711G>A	c.(7711-7713)GAC>AAC	p.D2571N	CHD6_uc002xjz.1_Missense_Mutation_p.D108N	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2571					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTCGGCTTGTCTTCCGCAGTC	0.507000												
TAF4	6874	broad.mit.edu	37	20	60581663	60581663	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr20:60581663G>A	uc002ybs.2	-	7	2126	c.2126C>T	c.(2125-2127)ACG>ATG	p.T709M		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	709					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGTGGCCGCCGTCTTCCCGGC	0.721000												
SS18L1	26039	broad.mit.edu	37	20	60749663	60749663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr20:60749663C>T	uc002ycb.2	+	10	1182	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L	SS18L1_uc011aaa.1_Missense_Mutation_p.P376L|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_RNA	NM_198935	NP_945173	O75177	CREST_HUMAN	SS18-like protein 1	376	Gln-rich.|SH3-binding (Potential).|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore				ovary(2)	2	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CAGACAGCGCCGTCTGCCCAG	0.617000			T	SSX1	synovial sarcoma							
TIMP3	7078	broad.mit.edu	37	22	33253288	33253288	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr22:33253288C>A	uc003anb.2	+	3	1443	c.257C>A	c.(256-258)GCT>GAT	p.A86D	SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	tissue inhibitor of metalloproteinase 3	86	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			lung(1)	1						CATACGGAAGCTTCCGAGAGT	0.512000												
ITIH1	3697	broad.mit.edu	37	3	52822070	52822070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:52822070C>T	uc003dfs.2	+	17	2017	c.1993C>T	c.(1993-1995)CGA>TGA	p.R665*	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Nonsense_Mutation_p.R266*|ITIH1_uc010hmo.1_Nonsense_Mutation_p.R219*|ITIH1_uc003dfu.2_Nonsense_Mutation_p.R31*	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	665	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCTGCCAGACCGAGTGACCGG	0.597000												
IFT57	55081	broad.mit.edu	37	3	107881416	107881416	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:107881416T>C	uc003dwx.3	-	11	1446	c.1198A>G	c.(1198-1200)ACA>GCA	p.T400A		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	400	pDED.				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			ovary(1)|skin(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TGGAGTAGTGTGTGTTCCACA	0.393000												
ARHGAP31	57514	broad.mit.edu	37	3	119102043	119102043	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:119102043A>C	uc003ecj.3	+	6	1184	c.652A>C	c.(652-654)AAC>CAC	p.N218H		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						AATCTTTAACAACGGTGCACC	0.483000												
PLSCR4	57088	broad.mit.edu	37	3	145917695	145917695	+	Missense_Mutation	SNP	G	G	A	rs34036393		TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:145917695G>A	uc010huy.2	-	6	858	c.529C>T	c.(529-531)CGG>TGG	p.R177W	PLSCR4_uc010huz.2_Missense_Mutation_p.R177W|PLSCR4_uc003evt.3_Missense_Mutation_p.R177W|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	177	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						TCAGTGACCCGGAGGACGAAG	0.483000												
DVL3	1857	broad.mit.edu	37	3	183885732	183885732	+	Silent	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr3:183885732G>A	uc003fms.2	+	13	1517	c.1377G>A	c.(1375-1377)ACG>ACA	p.T459T	DVL3_uc011bqw.1_Silent_p.T442T|DVL3_uc003fmt.2_Silent_p.T130T|DVL3_uc003fmu.2_Silent_p.T291T	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	459	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AAGGCTTCACGGACCGGAGGG	0.572000												
RBM47	54502	broad.mit.edu	37	4	40428122	40428122	+	Silent	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr4:40428122G>A	uc003gvc.2	-	7	2291	c.1581C>T	c.(1579-1581)AAC>AAT	p.N527N	RBM47_uc003gvd.2_Silent_p.N458N|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.N489N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	527	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(3)	3						TTCTCTGAACGTTTGGAGCCA	0.527000												
HERC5	51191	broad.mit.edu	37	4	89391825	89391825	+	Splice_Site	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr4:89391825G>A	uc003hrt.2	+	10	1451	c.1298_splice	c.e10+1	p.R433_splice	HERC5_uc011cdm.1_Splice_Site_p.R71_splice	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5						innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TAAGGAAAAGGTAATATATGT	0.299000												
EMCN	51705	broad.mit.edu	37	4	101342516	101342516	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr4:101342516A>C	uc003hvr.2	-	8	766	c.587T>G	c.(586-588)GTT>GGT	p.V196G	EMCN_uc011cel.1_Missense_Mutation_p.V183G|EMCN_uc011cem.1_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1	196	Helical; (Potential).					extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CAAAGCAATAACCACCGGCAA	0.398000												
FSTL5	56884	broad.mit.edu	37	4	162307215	162307215	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr4:162307215G>T	uc003iqh.2	-	16	2664	c.2228C>A	c.(2227-2229)GCA>GAA	p.A743E	FSTL5_uc003iqi.2_Missense_Mutation_p.A742E|FSTL5_uc010iqv.2_Missense_Mutation_p.A733E|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	743						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGTTGAAATGCCAGATCAGA	0.413000												
ADAMTS12	81792	broad.mit.edu	37	5	33588884	33588884	+	Silent	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:33588884C>T	uc003jia.1	-	18	2848	c.2685G>A	c.(2683-2685)TCG>TCA	p.S895S	ADAMTS12_uc010iuq.1_Silent_p.S810S	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	895	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CGCATGTCGCCGAGCATGCTT	0.587000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL7R	3575	broad.mit.edu	37	5	35876556	35876556	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:35876556G>A	uc003jjs.2	+	8	1437	c.1348G>A	c.(1348-1350)GTC>ATC	p.V450I	IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	450	Cytoplasmic (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGAAGCATATGTCACCATGTC	0.448000												
CMYA5	202333	broad.mit.edu	37	5	79033258	79033258	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:79033258C>A	uc003kgc.2	+	2	8742	c.8670C>A	c.(8668-8670)AGC>AGA	p.S2890R		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2890						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGCAAAAAGCAACTATGCTC	0.398000												
EDIL3	10085	broad.mit.edu	37	5	83402534	83402534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:83402534C>T	uc003kio.1	-	6	1003	c.584G>A	c.(583-585)CGT>CAT	p.R195H	EDIL3_uc003kip.1_Missense_Mutation_p.R185H	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	195	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTATTAAGACGTGCATAGTA	0.433000												
GRIA1	2890	broad.mit.edu	37	5	153085480	153085480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr5:153085480G>A	uc003lva.3	+	11	2041	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	GRIA1_uc003luy.3_Missense_Mutation_p.R559H|GRIA1_uc003luz.3_Missense_Mutation_p.R464H|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R479H|GRIA1_uc011dcx.1_Missense_Mutation_p.R490H|GRIA1_uc011dcy.1_Missense_Mutation_p.R569H|GRIA1_uc011dcz.1_Missense_Mutation_p.R569H|GRIA1_uc010jia.1_Missense_Mutation_p.R539H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	559	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGGTCAGCCGCTTCAGTCCC	0.483000												
GCM2	9247	broad.mit.edu	37	6	10874928	10874928	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr6:10874928C>A	uc003mzn.3	-	5	893	c.821G>T	c.(820-822)AGC>ATC	p.S274I	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	274					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CAATTCATAGCTGCAAGGTGG	0.453000												
SHPRH	257218	broad.mit.edu	37	6	146240548	146240548	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr6:146240548C>G	uc003qlf.2	-	22	4487	c.4088G>C	c.(4087-4089)AGA>ACA	p.R1363T	SHPRH_uc003qld.2_Missense_Mutation_p.R1367T|SHPRH_uc003qle.2_Missense_Mutation_p.R1367T|SHPRH_uc003qlg.1_Missense_Mutation_p.R919T|SHPRH_uc003qlh.2_Missense_Mutation_p.R288T|SHPRH_uc003qli.1_Missense_Mutation_p.R288T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1363					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCACGCACTCTTAGTCGTTC	0.433000												
STXBP5	134957	broad.mit.edu	37	6	147685193	147685193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr6:147685193G>A	uc003qlz.2	+	25	3133	c.2972G>A	c.(2971-2973)CGG>CAG	p.R991Q	STXBP5_uc010khz.1_Missense_Mutation_p.R955Q|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.R646Q	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	991					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACCAATATGCGGATAGCCAGA	0.363000												
ARID1B	57492	broad.mit.edu	37	6	157528141	157528141	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr6:157528141T>C	uc003qqn.2	+	20	5964	c.5812T>C	c.(5812-5814)TCA>CCA	p.S1938P	ARID1B_uc003qqo.2_Missense_Mutation_p.S1898P|ARID1B_uc003qqp.2_Missense_Mutation_p.S1885P	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1943					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCGTAGCTTGTCATTCGTGCC	0.547000												
TNS3	64759	broad.mit.edu	37	7	47342944	47342944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr7:47342944C>T	uc003tnv.2	-	22	3428	c.3061G>A	c.(3061-3063)GGC>AGC	p.G1021S	TNS3_uc003tnw.2_Missense_Mutation_p.G1021S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	1021						focal adhesion	protein binding			ovary(4)	4						GTGCCGAAGCCCAGGAAGGCC	0.682000												
IKZF1	10320	broad.mit.edu	37	7	50468286	50468286	+	Silent	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr7:50468286G>A	uc003tow.3	+	9	1689	c.1521G>A	c.(1519-1521)TCG>TCA	p.S507S	IKZF1_uc003tox.3_Silent_p.S465S|IKZF1_uc003toy.3_Silent_p.S465S|IKZF1_uc011kck.1_Silent_p.S420S|IKZF1_uc003toz.3_Silent_p.S477S|IKZF1_uc010kyx.2_Silent_p.S247S|IKZF1_uc003tpa.3_Silent_p.S249S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	507	C2H2-type 6.				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.S507*(1)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGTTCTCGTCGCACATAACGC	0.617000			D		ALL							
FOXP2	93986	broad.mit.edu	37	7	114299725	114299725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr7:114299725G>A	uc003vhb.2	+	13	2018	c.1644G>A	c.(1642-1644)TGG>TGA	p.W548*	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Nonsense_Mutation_p.W573*|FOXP2_uc003vha.2_Nonsense_Mutation_p.W456*|FOXP2_uc011kmu.1_Nonsense_Mutation_p.W565*|FOXP2_uc011kmv.1_Nonsense_Mutation_p.W547*|FOXP2_uc010ljz.1_Nonsense_Mutation_p.W363*|FOXP2_uc003vhe.1_Nonsense_Mutation_p.W118*	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	548	Fork-head.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						CAGCAACTTGGAAGGTAACTA	0.289000												
RBM33	155435	broad.mit.edu	37	7	155499703	155499703	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr7:155499703G>A	uc010lqk.1	+	7	1257	c.889G>A	c.(889-891)GAG>AAG	p.E297K	RBM33_uc011kvv.1_Missense_Mutation_p.E106K	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	297							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGAGAGCACCGAGAGGGGCAG	0.577000												
OSGIN2	734	broad.mit.edu	37	8	90937640	90937640	+	Silent	SNP	T	T	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr8:90937640T>G	uc003yeg.2	+	6	1744	c.1398T>G	c.(1396-1398)GTT>GTG	p.V466V	OSGIN2_uc003yeh.2_Silent_p.V510V	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	466					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTCCTTTGGTTGGAGACAATT	0.408000												
ZFPM2	23414	broad.mit.edu	37	8	106800947	106800947	+	Silent	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr8:106800947G>A	uc003ymd.2	+	6	557	c.534G>A	c.(532-534)GGG>GGA	p.G178G	ZFPM2_uc011lhs.1_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	178					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTTAATAGGGGGTCAGCTTT	0.408000												
SPIN1	10927	broad.mit.edu	37	9	91083396	91083396	+	Silent	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:91083396C>T	uc010mqj.2	+	5	965	c.465C>T	c.(463-465)GTC>GTT	p.V155V	SPIN1_uc004apy.2_Silent_p.V155V|SPIN1_uc004apz.2_Silent_p.V155V|SPIN1_uc010mqk.2_Silent_p.V155V	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	spindlin	155					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding				0						GGGGAATGGTCTTAGCACGTG	0.438000												
RNF20	56254	broad.mit.edu	37	9	104317113	104317113	+	Silent	SNP	C	C	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:104317113C>A	uc004bbn.2	+	15	2247	c.2157C>A	c.(2155-2157)GCC>GCA	p.A719A		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	719	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAAGCTAGCCATGGCCAAGC	0.378000												
CRB2	286204	broad.mit.edu	37	9	126133738	126133738	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:126133738G>A	uc004bnx.1	+	8	2409	c.2317G>A	c.(2317-2319)GAT>AAT	p.D773N	CRB2_uc004bnw.1_Missense_Mutation_p.D773N	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	773	Extracellular (Potential).|Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCTGCGACTCGATGGCTGCCA	0.682000												
COL5A1	1289	broad.mit.edu	37	9	137716542	137716542	+	Missense_Mutation	SNP	G	G	A	rs149212775	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:137716542G>A	uc004cfe.2	+	62	5177	c.4795G>A	c.(4795-4797)GAG>AAG	p.E1599K	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1599	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGGCGAGAACTACGT	0.632000												
SLC34A3	142680	broad.mit.edu	37	9	140130522	140130522	+	Missense_Mutation	SNP	G	G	A	rs138872455	byFrequency	TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr9:140130522G>A	uc004cmf.1	+	13	1640	c.1454G>A	c.(1453-1455)CGC>CAC	p.R485H	SLC34A3_uc011met.1_Missense_Mutation_p.R485H	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	485	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCCGTTACCGCTGGGTGGCT	0.697000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WWC3	55841	broad.mit.edu	37	X	10058819	10058819	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chrX:10058819G>A	uc004csx.3	+	6	584	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	129										ovary(4)	4						AGGATTGATCGGAAGATGTCA	0.428000												
MUM1L1	139221	broad.mit.edu	37	X	105450563	105450563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chrX:105450563C>T	uc004emf.1	+	4	1787	c.1138C>T	c.(1138-1140)CGC>TGC	p.R380C	MUM1L1_uc004emg.1_Missense_Mutation_p.R380C	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	380										ovary(2)|pancreas(1)|skin(1)	4						AGAACTTCCACGCTTCATTTT	0.373000												
SPEN	23013	broad.mit.edu	37	1	16264327	16264328	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr1:16264326_16264327A>AG	uc001axk.1	+	12	10733_10734	c.10529_10530A>AG	c.(10528-10530)cagfs	p.Q3510fs	SPEN_uc010obp.1_Frame_Shift_Ins_p.Q3469fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3510	SPOC.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCGTGTGGCAGGGCCTGCTGG	0.594												
BBS2	583	broad.mit.edu	37	16	56544774	56544775	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr16:56544773_56544774CTT>C	uc002ejd.2	-	3	765_766	c.531_532AAG>G	c.(529-534)aaagagfs	p.K177fs	BBS2_uc010ccg.2_Frame_Shift_Del_p.K177fs	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	177					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCACATACCTCTTTCTTTCCAT	0.426									Bardet-Biedl syndrome			
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-A4J4-01A-12D-A25D-08	TCGA-BR-A4J4-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e	cf5a2a68-639d-4623-ad6c-71d061db302e	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653