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
RASAL2	9462	broad.mit.edu	37	1	178426964	178426964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr1:178426964G>A	uc001glr.2	+	12	2239	c.2114G>A	c.(2113-2115)CGG>CAG	p.R705Q	RASAL2_uc001glq.2_Missense_Mutation_p.R846Q|RASAL2_uc009wxc.2_Missense_Mutation_p.R219Q	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	705					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CCTAATGGTCGGAGCGTCTCC	0.493000												
HMCN1	83872	broad.mit.edu	37	1	186092180	186092180	+	Silent	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr1:186092180C>T	uc001grq.1	+	81	12556	c.12327C>T	c.(12325-12327)GAC>GAT	p.D4109D		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4109	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTCCGCCTGACATTACATGGC	0.502000												
NID1	4811	broad.mit.edu	37	1	236205258	236205258	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr1:236205258G>T	uc001hxo.2	-	4	1189	c.1087C>A	c.(1087-1089)CAG>AAG	p.Q363K	NID1_uc009xgd.2_Missense_Mutation_p.Q363K	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	363					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGAGGGTGCTGCTGGTGAAAA	0.542000												
GRID1	2894	broad.mit.edu	37	10	88123850	88123850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr10:88123850G>A	uc001kdl.1	-	2	184	c.83C>T	c.(82-84)GCC>GTC	p.A28V	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	28	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CTCGAAGATGGCACCTGGAGG	0.602000										Multiple Myeloma(13;0.14)		
TACC2	10579	broad.mit.edu	37	10	123976316	123976316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr10:123976316G>A	uc001lfv.2	+	11	7879	c.7519G>A	c.(7519-7521)GAG>AAG	p.E2507K	TACC2_uc001lfw.2_Missense_Mutation_p.E653K|TACC2_uc009xzx.2_Missense_Mutation_p.E2462K|TACC2_uc010qtv.1_Missense_Mutation_p.E2511K|TACC2_uc001lfx.2_Missense_Mutation_p.E211K|TACC2_uc001lfy.2_Missense_Mutation_p.E207K|TACC2_uc001lfz.2_Missense_Mutation_p.E585K|TACC2_uc001lga.2_Missense_Mutation_p.E585K|TACC2_uc009xzy.2_Missense_Mutation_p.E597K|TACC2_uc001lgb.2_Missense_Mutation_p.E542K|TACC2_uc010qtw.1_Missense_Mutation_p.E602K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2507						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTTGTAAACGAGACCAAATT	0.582000												
DMBT1	1755	broad.mit.edu	37	10	124402642	124402642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr10:124402642G>A	uc001lgk.1	+	53	7076	c.6970G>A	c.(6970-6972)GTG>ATG	p.V2324M	DMBT1_uc001lgl.1_Missense_Mutation_p.V2314M|DMBT1_uc001lgm.1_Missense_Mutation_p.V1696M|DMBT1_uc009xzz.1_Missense_Mutation_p.V2323M|DMBT1_uc010qtx.1_Missense_Mutation_p.V1044M|DMBT1_uc009yab.1_Missense_Mutation_p.V1027M|DMBT1_uc009yac.1_Missense_Mutation_p.V618M	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2324	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)				TTCCAGATGCGTGAGGGATGA	0.567000												
OR5L1	219437	broad.mit.edu	37	11	55579431	55579431	+	Silent	SNP	T	T	C			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr11:55579431T>C	uc001nhw.1	+	1	489	c.489T>C	c.(487-489)GCT>GCC	p.A163A		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TGTGCTTAGCTCTTAGGATCC	0.443000												
RSF1	51773	broad.mit.edu	37	11	77386245	77386245	+	Missense_Mutation	SNP	G	G	A	rs149460903	by1000genomes	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr11:77386245G>A	uc001oyn.2	-	14	3518	c.3398C>T	c.(3397-3399)CCG>CTG	p.P1133L	RSF1_uc001oym.2_Missense_Mutation_p.P881L	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1133					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATTAGATGGCGGATCTTCTTC	0.448000												
KCNA1	3736	broad.mit.edu	37	12	5021267	5021267	+	Silent	SNP	C	C	T	rs147731985		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr12:5021267C>T	uc001qnh.2	+	2	1828	c.723C>T	c.(721-723)TTC>TTT	p.F241F		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	241	Helical; Name=Segment S2; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.F241F(1)		ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCGCTTCTTCGCCTGCCCCA	0.493000												
PEX5	5830	broad.mit.edu	37	12	7361645	7361645	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr12:7361645G>A	uc009zfu.1	+	15	2019	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q	PEX5_uc001qsw.2_Missense_Mutation_p.R480Q|PEX5_uc010sgc.1_Missense_Mutation_p.R495Q|PEX5_uc001qsu.2_Missense_Mutation_p.R443Q|PEX5_uc010sgd.1_Missense_Mutation_p.R501Q|PEX5_uc001qsv.2_Missense_Mutation_p.R472Q	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	480	TPR 4.				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1						GCAGCTGTGCGGCTGGACCCT	0.502000												
PLXNC1	10154	broad.mit.edu	37	12	94654549	94654549	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr12:94654549G>A	uc001tdc.2	+	20	3632	c.3383G>A	c.(3382-3384)CGC>CAC	p.R1128H	PLXNC1_uc010sut.1_Missense_Mutation_p.R175H|PLXNC1_uc009zsv.2_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1128	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						ATGCTGAGACGCACGGAGTCC	0.522000												
NBEA	26960	broad.mit.edu	37	13	36241608	36241608	+	Silent	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr13:36241608C>T	uc001uvb.2	+	56	8705	c.8499C>T	c.(8497-8499)AGC>AGT	p.S2833S	NBEA_uc010abi.2_Silent_p.S1491S|NBEA_uc010tef.1_Silent_p.S626S|NBEA_uc001uvd.2_Silent_p.S411S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2833						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTGTCTCCAGCGAAGGCCACT	0.468000												
MYCBP2	23077	broad.mit.edu	37	13	77780921	77780921	+	Silent	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr13:77780921C>T	uc001vkf.2	-	25	3433	c.3342G>A	c.(3340-3342)GCG>GCA	p.A1114A	MYCBP2_uc010aev.2_Silent_p.A518A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAGCAACCACCGCATTGTAAC	0.428000												
PPP2R5C	5527	broad.mit.edu	37	14	102349871	102349871	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr14:102349871A>G	uc001yko.2	+	5	741	c.601A>G	c.(601-603)AGA>GGA	p.R201G	PPP2R5C_uc010txr.1_Missense_Mutation_p.R232G|PPP2R5C_uc001ykk.2_Missense_Mutation_p.R256G|PPP2R5C_uc010txt.1_Missense_Mutation_p.R191G|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R201G|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R201G|PPP2R5C_uc001ykq.2_Missense_Mutation_p.R99G|uc001ykr.1_5'Flank	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	201					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						AGCTTACATCAGAAAACAGAT	0.433000												
UNC45A	55898	broad.mit.edu	37	15	91491480	91491480	+	Silent	SNP	G	G	A	rs139418696	by1000genomes	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr15:91491480G>A	uc002bqg.2	+	12	2044	c.1704G>A	c.(1702-1704)GCG>GCA	p.A568A	UNC45A_uc002bqd.2_Silent_p.A553A|UNC45A_uc010uqr.1_5'UTR|UNC45A_uc002bqi.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	568					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGGAGGATGCGGCTGCTCTGA	0.582000												
HS3ST2	9956	broad.mit.edu	37	16	22926408	22926408	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr16:22926408G>A	uc002dli.2	+	2	701	c.629G>A	c.(628-630)CGT>CAT	p.R210H	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	210	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CCTGTGACCCGTGCCATCTCT	0.587000												
SALL1	6299	broad.mit.edu	37	16	51174297	51174297	+	Silent	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr16:51174297G>A	uc010vgs.1	-	2	1867	c.1836C>T	c.(1834-1836)GCC>GCT	p.A612A	SALL1_uc010vgr.1_Silent_p.A515A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	612					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGACCCTTCGGCTTCCTCTG	0.622000												
CDH1	999	broad.mit.edu	37	16	68842699	68842699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr16:68842699G>A	uc002ewg.1	+	5	759	c.635G>A	c.(634-636)GGA>GAA	p.G212E	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.G212E	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	212	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGAGAAACAGGATGGCTGAAG	0.463000			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
VAT1L	57687	broad.mit.edu	37	16	77918562	77918562	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr16:77918562G>A	uc002ffg.1	+	7	1037	c.940G>A	c.(940-942)GCG>ACG	p.A314T		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	314							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						CAAAGTCATCGCGGGGTTTTC	0.502000												
GP1BA	2811	broad.mit.edu	37	17	4835962	4835962	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:4835962G>T	uc010vsq.1	+	2	138	c.63G>T	c.(61-63)GAG>GAT	p.E21D	uc002fzn.1_RNA	NM_000173	NP_000164	P07359	GP1BA_HUMAN	platelet glycoprotein Ib alpha polypeptide	21											0						CCATCTGTGAGGTCTCCAAAG	0.592000												
DNAH9	1770	broad.mit.edu	37	17	11651040	11651040	+	Silent	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:11651040G>A	uc002gne.2	+	32	6635	c.6567G>A	c.(6565-6567)GAG>GAA	p.E2189E	DNAH9_uc010coo.2_Silent_p.E1483E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2189	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAATGATGAGCTCTTTGGCA	0.527000												
MYO1D	4642	broad.mit.edu	37	17	30932222	30932222	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:30932222A>G	uc002hho.1	-	21	2759	c.2747T>C	c.(2746-2748)CTT>CCT	p.L916P	MYO1D_uc002hhp.1_Missense_Mutation_p.L916P	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	916						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GAACACTACAAGTTGGTCCTT	0.403000												
KRT16	3868	broad.mit.edu	37	17	39767374	39767374	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:39767374C>T	uc002hxg.3	-	4	1019	c.880G>A	c.(880-882)GAG>AAG	p.E294K	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	294	Rod.|Coil 2.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				GCCATCTGCTCGTACTGGTCA	0.617000												
OSBPL7	114881	broad.mit.edu	37	17	45894030	45894030	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:45894030A>T	uc002ilx.1	-	10	1030	c.827T>A	c.(826-828)CTG>CAG	p.L276Q	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	276					lipid transport		lipid binding				0						GTAGCGAGACAGGTTGGGAAC	0.647000												
TANC2	26115	broad.mit.edu	37	17	61498701	61498701	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:61498701C>G	uc002jal.3	+	25	5381	c.5358C>G	c.(5356-5358)AGC>AGG	p.S1786R	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.S897R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1786							binding			ovary(2)	2						CTCCATCTAGCAATAGTATCT	0.517000												
CD7	924	broad.mit.edu	37	17	80274701	80274701	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:80274701G>A	uc002kel.1	-	2	348	c.239C>T	c.(238-240)ACG>ATG	p.T80M	CD7_uc010din.2_Missense_Mutation_p.T80M|CD7_uc002kem.2_Silent_p.Y61Y|CD7_uc010wvk.1_Missense_Mutation_p.T80M	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	80	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CCGTCTGTCCGTAGTGGGCAC	0.637000												
MALT1	10892	broad.mit.edu	37	18	56376637	56376637	+	Missense_Mutation	SNP	A	A	C	rs149988025		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr18:56376637A>C	uc002lhm.1	+	5	935	c.677A>C	c.(676-678)AAG>ACG	p.K226T	MALT1_uc002lhn.1_Missense_Mutation_p.K226T	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	226	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						TCTGAATCCAAGTTGCAAATC	0.358000			T	BIRC3	MALT							
MALT1	10892	broad.mit.edu	37	18	56376642	56376642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr18:56376642C>T	uc002lhm.1	+	5	940	c.682C>T	c.(682-684)CAA>TAA	p.Q228*	MALT1_uc002lhn.1_Nonsense_Mutation_p.Q228*	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	228	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						ATCCAAGTTGCAAATCTGTGT	0.358000			T	BIRC3	MALT							
RLN3	117579	broad.mit.edu	37	19	14139122	14139122	+	Missense_Mutation	SNP	G	G	A	rs141631429		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:14139122G>A	uc002mxw.1	+	1	106	c.106G>A	c.(106-108)GGC>AGC	p.G36S	RLN3_uc010dzj.1_Missense_Mutation_p.G36S	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	relaxin 3 preproprotein	36						extracellular region	hormone activity				0						CAGGCTTTGCGGCCGAGAATT	0.662000												
MLL4	9757	broad.mit.edu	37	19	36221615	36221615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:36221615C>T	uc010eei.2	+	27	5284	c.5284C>T	c.(5284-5286)CGT>TGT	p.R1762C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1762	FYR N-terminal.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGTGCTCCCGTCTGTACTG	0.612000												
PSG8	440533	broad.mit.edu	37	19	43262204	43262204	+	Missense_Mutation	SNP	C	C	T	rs139399276	byFrequency	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:43262204C>T	uc002ouo.2	-	3	757	c.659G>A	c.(658-660)CGG>CAG	p.R220Q	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.R59Q|PSG8_uc002ouh.2_Missense_Mutation_p.R220Q|PSG8_uc010ein.2_Missense_Mutation_p.R98Q|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.R59Q|PSG8_uc002oul.3_Missense_Mutation_p.R220Q|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	220	Ig-like C2-type 1.					extracellular region					0		Prostate(69;0.00899)				CACTGGGTTCCGTATTTCACA	0.507000												
CRX	1406	broad.mit.edu	37	19	48343048	48343048	+	Missense_Mutation	SNP	G	G	A	rs61748459	byFrequency	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:48343048G>A	uc002phq.3	+	4	928	c.724G>A	c.(724-726)GTG>ATG	p.V242M		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	242			V -> M (in CORD2).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TGGCCCCTCCGTGGGACCTTC	0.652000												
AURKC	6795	broad.mit.edu	37	19	57743416	57743416	+	Silent	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr19:57743416C>T	uc002qoe.2	+	3	309	c.120C>T	c.(118-120)GTC>GTT	p.V40V	AURKC_uc002qoc.2_Silent_p.V21V|AURKC_uc002qod.2_Silent_p.V6V|AURKC_uc010etv.2_Silent_p.V37V	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	40					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GCCTCACAGTCGATGACTTTG	0.562000												
LTBP1	4052	broad.mit.edu	37	2	33572560	33572560	+	Missense_Mutation	SNP	G	G	A	rs139673362		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:33572560G>A	uc002ros.2	+	26	3986	c.3986G>A	c.(3985-3987)CGC>CAC	p.R1329H	LTBP1_uc002rot.2_Missense_Mutation_p.R1003H|LTBP1_uc002rou.2_Missense_Mutation_p.R1002H|LTBP1_uc002rov.2_Missense_Mutation_p.R949H|LTBP1_uc010ymz.1_Missense_Mutation_p.R960H|LTBP1_uc010yna.1_Missense_Mutation_p.R907H|LTBP1_uc010ynb.1_Missense_Mutation_p.R226H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1328	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGCAGTGCCGCTCCCGGACC	0.567000												
LHCGR	3973	broad.mit.edu	37	2	48915521	48915521	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:48915521A>G	uc002rwu.3	-	11	1485	c.1415T>C	c.(1414-1416)ATT>ACT	p.I472T	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	472	Cytoplasmic (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCCAGGTGAATAGCATAGGT	0.463000									Familial_Male-Limited_Precocious_Puberty			
LRRTM1	347730	broad.mit.edu	37	2	80529646	80529646	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:80529646C>A	uc002sok.1	-	2	1569	c.1299G>T	c.(1297-1299)ATG>ATT	p.M433I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	433	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						AGATGAGGGCCATGGTGCCCG	0.627000										HNSCC(69;0.2)		
CTNNA2	1496	broad.mit.edu	37	2	80835315	80835315	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:80835315G>T	uc010ysh.1	+	16	2307	c.2302G>T	c.(2302-2304)GAT>TAT	p.D768Y	CTNNA2_uc010yse.1_Missense_Mutation_p.D768Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D768Y|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Missense_Mutation_p.D400Y|CTNNA2_uc010ysj.1_Missense_Mutation_p.D97Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	768					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						ATAGTGTCCTGATTCAGCATG	0.368000												
RAPGEF4	11069	broad.mit.edu	37	2	173679118	173679118	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:173679118C>T	uc002uhv.3	+	4	596	c.409C>T	c.(409-411)CGC>TGC	p.R137C	RAPGEF4_uc002uhu.2_Missense_Mutation_p.R137C|RAPGEF4_uc010fqn.2_Missense_Mutation_p.R120C	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	137	cAMP 1.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGAACTGCTCCGCATCGAGCA	0.522000												
TTN	7273	broad.mit.edu	37	2	179429737	179429737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:179429737G>A	uc010zfg.1	-	275	73642	c.73418C>T	c.(73417-73419)ACG>ATG	p.T24473M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18168M|TTN_uc010zfi.1_Missense_Mutation_p.T18101M|TTN_uc010zfj.1_Missense_Mutation_p.T17976M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25400							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)			CTGGTACTCCGTGCCTGTTTT	0.393000												
ANKRD44	91526	broad.mit.edu	37	2	197878392	197878392	+	Silent	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:197878392C>T	uc002uua.1	-	18	1769	c.1692G>A	c.(1690-1692)TCG>TCA	p.S564S	ANKRD44_uc002utz.3_Silent_p.S296S	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	589	ANK 17.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGTCCACCAACGACTGCAGAA	0.532000												
C2orf80	389073	broad.mit.edu	37	2	209047703	209047703	+	Silent	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr2:209047703C>T	uc002vcr.2	-	4	364	c.192G>A	c.(190-192)CTG>CTA	p.L64L		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	hypothetical protein LOC389073	64										skin(1)	1						CCTCCCACTCCAGCCAAGTTA	0.453000												
TTLL9	164395	broad.mit.edu	37	20	30521649	30521649	+	Silent	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr20:30521649C>T	uc010gdx.1	+	11	1048	c.795C>T	c.(793-795)TAC>TAT	p.Y265Y	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.Y167Y|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	265	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCCCGACTACCACCCAAAGA	0.612000												
TIAM1	7074	broad.mit.edu	37	21	32492758	32492758	+	Silent	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr21:32492758G>A	uc002yow.1	-	29	5176	c.4704C>T	c.(4702-4704)AGC>AGT	p.S1568S	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.S1508S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1568					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCTCGCTTGCGCTCTCCAGGC	0.577000												
PDE9A	5152	broad.mit.edu	37	21	44151921	44151921	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr21:44151921G>T	uc002zbm.2	+	5	367	c.304G>T	c.(304-306)GCT>TCT	p.A102S	PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_5'UTR|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Missense_Mutation_p.A61S|PDE9A_uc002zcb.2_Missense_Mutation_p.A76S|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Missense_Mutation_p.A35S|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_5'UTR	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	102					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						TGGCCAGTCTGCTGAGAGACC	0.567000												
AGPAT3	56894	broad.mit.edu	37	21	45390580	45390580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr21:45390580G>A	uc002zdv.2	+	6	779	c.557G>A	c.(556-558)CGC>CAC	p.R186H	AGPAT3_uc002zdw.2_Missense_Mutation_p.R186H|AGPAT3_uc002zdx.2_Missense_Mutation_p.R273H|AGPAT3_uc002zdy.2_Missense_Mutation_p.R124H	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	186	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		ACCAAGCACCGCGTTAGCATG	0.622000												
HIRA	7290	broad.mit.edu	37	22	19349416	19349416	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr22:19349416C>T	uc002zpf.1	-	16	2034	c.1814G>A	c.(1813-1815)CGA>CAA	p.R605Q	HIRA_uc011agx.1_Missense_Mutation_p.R471Q|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.R561Q|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	605	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CAGGAGGTCTCGGGGCCTCAG	0.378000												
PLA2G3	50487	broad.mit.edu	37	22	31536082	31536082	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr22:31536082A>G	uc003aka.2	-	1	388	c.259T>C	c.(259-261)TGT>CGT	p.C87R		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	87					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						TCATGAGCACAGAGAGCACCG	0.642000												
C3orf20	84077	broad.mit.edu	37	3	14731512	14731512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:14731512G>A	uc003byy.2	+	5	1038	c.634G>A	c.(634-636)GCA>ACA	p.A212T	C3orf20_uc003byz.2_Missense_Mutation_p.A90T|C3orf20_uc003bza.2_Missense_Mutation_p.A90T|C3orf20_uc003byx.1_Missense_Mutation_p.A212T	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	212						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						AGAGTCCCTCGCAAACATGTC	0.433000												
CTNNB1	1499	broad.mit.edu	37	3	41277254	41277254	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:41277254G>A	uc010hia.1	+	12	1879	c.1723G>A	c.(1723-1725)GGA>AGA	p.G575R	CTNNB1_uc003ckp.2_Missense_Mutation_p.G575R|CTNNB1_uc003ckq.2_Missense_Mutation_p.G575R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G575R|CTNNB1_uc011azf.1_Missense_Mutation_p.G568R|CTNNB1_uc011azg.1_Missense_Mutation_p.G503R|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_Missense_Mutation_p.G10R	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	575					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGGTTGTACCGGAGCCCTTCA	0.433000		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
NBEAL2	23218	broad.mit.edu	37	3	47049627	47049627	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:47049627G>A	uc003cqp.2	+	50	7849	c.7670G>A	c.(7669-7671)AGC>AAC	p.S2557N	NBEAL2_uc010hjm.1_Missense_Mutation_p.S1934N|NBEAL2_uc010hjn.1_Missense_Mutation_p.S923N|NBEAL2_uc010hjo.1_Missense_Mutation_p.S117N	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2557	WD 4.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTGCAGTGAGCTGTGTGGCC	0.592000												
RHOA	387	broad.mit.edu	37	3	49412898	49412898	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:49412898T>C	uc003cwu.2	-	2	401	c.125A>G	c.(124-126)TAT>TGT	p.Y42C	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	42	Effector region (Potential).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ATCTGCCACATAGTTCTCAAA	0.433000												
LRIG1	26018	broad.mit.edu	37	3	66457882	66457882	+	Silent	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:66457882G>A	uc003dmx.2	-	8	983	c.969C>T	c.(967-969)GAC>GAT	p.D323D	LRIG1_uc003dmw.2_5'Flank|LRIG1_uc010hnz.2_Silent_p.D63D|LRIG1_uc010hoa.2_Silent_p.D323D	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	323	Extracellular (Potential).|LRR 11.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGCTCTCCTCGTCCAGCCGTG	0.612000											OREG0015662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KLHL24	54800	broad.mit.edu	37	3	183368716	183368716	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:183368716C>T	uc003flv.2	+	3	867	c.572C>T	c.(571-573)GCG>GTG	p.A191V	KLHL24_uc003flw.2_Missense_Mutation_p.A191V|KLHL24_uc003flx.2_Missense_Mutation_p.A191V	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	191	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAAATTTTGCGTTACAGACT	0.368000												
ECE2	9718	broad.mit.edu	37	3	184005662	184005662	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:184005662C>T	uc003fni.3	+	11	1693	c.1655C>T	c.(1654-1656)ACG>ATG	p.T552M	ECE2_uc011brh.1_Missense_Mutation_p.T405M|ECE2_uc003fnl.3_Missense_Mutation_p.T480M|ECE2_uc003fnm.3_Missense_Mutation_p.T434M|ECE2_uc003fnk.3_Missense_Mutation_p.T405M|ECE2_uc011bri.1_Missense_Mutation_p.T467M|ECE2_uc010hxv.2_Missense_Mutation_p.T196M	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	552	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCTCCAACACGGATGACGCC	0.527000												
PCYT1A	5130	broad.mit.edu	37	3	195974306	195974306	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr3:195974306G>A	uc003fwg.2	-	6	591	c.418C>T	c.(418-420)CGC>TGC	p.R140C	PCYT1A_uc003fwh.2_Missense_Mutation_p.R140C	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	140	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TCCACGTAGCGGCAGTGCTGG	0.537000												
ADAMTS3	9508	broad.mit.edu	37	4	73164020	73164020	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr4:73164020G>C	uc003hgk.1	-	18	2601	c.2564C>G	c.(2563-2565)TCT>TGT	p.S855C	ADAMTS3_uc003hgl.2_Missense_Mutation_p.S196C	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	855	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAACACTGAGACCAGCTCTT	0.363000												
PRKG2	5593	broad.mit.edu	37	4	82125924	82125924	+	Missense_Mutation	SNP	G	G	A	rs147037183	byFrequency	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr4:82125924G>A	uc003hmh.2	-	1	292	c.278C>T	c.(277-279)CCG>CTG	p.P93L	PRKG2_uc011cch.1_Missense_Mutation_p.P93L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	93					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						GGCCTGAAGCGGGCTTCCTCC	0.557000												
TACR3	6870	broad.mit.edu	37	4	104640553	104640553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr4:104640553C>T	uc003hxe.1	-	1	423	c.280G>A	c.(280-282)GTG>ATG	p.V94M		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	94	Helical; Name=1; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCCACCACCACACCATACGCC	0.612000												
PCDH10	57575	broad.mit.edu	37	4	134072680	134072680	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr4:134072680G>A	uc003iha.2	+	1	2211	c.1385G>A	c.(1384-1386)CGT>CAT	p.R462H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R462H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	462	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AACGCGCCGCGTTTCAGCCAG	0.617000												
DNAH5	1767	broad.mit.edu	37	5	13776589	13776589	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr5:13776589A>G	uc003jfd.2	-	55	9374	c.9332T>C	c.(9331-9333)ATT>ACT	p.I3111T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3111	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GAACCAGTCAATTGTGCATCC	0.453000									Kartagener_syndrome			
DMXL1	1657	broad.mit.edu	37	5	118469231	118469231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr5:118469231G>A	uc003ksd.2	+	12	1793	c.1612G>A	c.(1612-1614)GAT>AAT	p.D538N	DMXL1_uc010jcl.1_Missense_Mutation_p.D538N|DMXL1_uc003ksc.1_Missense_Mutation_p.D538N	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	538										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCCCACAGGTGATGCAAACTC	0.393000												
PCDHAC1	56135	broad.mit.edu	37	5	140307641	140307641	+	Silent	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr5:140307641G>A	uc003lih.2	+	1	1340	c.1164G>A	c.(1162-1164)ACG>ACA	p.T388T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.T388T	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	388	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGCTGACGGCTTCCTTTG	0.507000												
PCDHB16	57717	broad.mit.edu	37	5	140564164	140564164	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr5:140564164C>G	uc003liv.2	+	1	3185	c.2030C>G	c.(2029-2031)GCC>GGC	p.A677G	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	677	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAGGCGGCCCCCGGCCAG	0.682000												
GCM2	9247	broad.mit.edu	37	6	10876693	10876693	+	Silent	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr6:10876693G>A	uc003mzn.3	-	3	513	c.441C>T	c.(439-441)AAC>AAT	p.N147N	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	147	GCM.				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)				AAAAGATCGCGTTGCCATCAA	0.498000												
THEMIS	387357	broad.mit.edu	37	6	128134866	128134866	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr6:128134866A>G	uc003qbi.2	-	5	1239	c.920T>C	c.(919-921)ATT>ACT	p.I307T	THEMIS_uc010kfa.2_Missense_Mutation_p.I210T|THEMIS_uc011ebt.1_Missense_Mutation_p.I307T|THEMIS_uc010kfb.2_Missense_Mutation_p.I272T	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	307	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						GTGGATCACAATGGTTTTCCC	0.408000												
GRM1	2911	broad.mit.edu	37	6	146755675	146755675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr6:146755675G>A	uc010khw.1	+	9	3798	c.3328G>A	c.(3328-3330)GTG>ATG	p.V1110M	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1110	Asp/Glu-rich (acidic).|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAGGAGTACGTGTATGAGCA	0.627000												
ESR1	2099	broad.mit.edu	37	6	152265479	152265479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr6:152265479C>T	uc003qom.3	+	6	1302	c.932C>T	c.(931-933)ACG>ATG	p.T311M	ESR1_uc010kin.2_Missense_Mutation_p.T311M|ESR1_uc010kio.2_Missense_Mutation_p.T313M|ESR1_uc010kip.2_Missense_Mutation_p.T310M|ESR1_uc003qon.3_Missense_Mutation_p.T311M|ESR1_uc003qoo.3_Missense_Mutation_p.T311M|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Missense_Mutation_p.T92M|ESR1_uc010kit.1_Missense_Mutation_p.T48M|ESR1_uc011eey.1_Missense_Mutation_p.T48M	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	311	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TTGTCCCTGACGGCCGACCAG	0.557000												
RABL5	64792	broad.mit.edu	37	7	100959744	100959744	+	Missense_Mutation	SNP	G	G	A	rs140464086	byFrequency	TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr7:100959744G>A	uc003uyl.2	-	4	389	c.286C>T	c.(286-288)CGG>TGG	p.R96W	RABL5_uc011kkk.1_Missense_Mutation_p.R19W|RABL5_uc011kkl.1_Missense_Mutation_p.R19W|RABL5_uc003uym.2_Missense_Mutation_p.R66W|RABL5_uc010lhw.2_RNA|RABL5_uc011kkm.1_Missense_Mutation_p.R96W	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5 isoform	96							GTP binding				0	Lung NSC(181;0.215)					ATTTCCTTCCGGTGGCTTGGG	0.517000												
NEFL	4747	broad.mit.edu	37	8	24811294	24811294	+	Silent	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr8:24811294G>A	uc003xee.2	-	3	1287	c.1185C>T	c.(1183-1185)GGC>GGT	p.G395G		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	395	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGGTCTCCTCGCCTTCCAAGA	0.527000												
KCNV1	27012	broad.mit.edu	37	8	110986297	110986297	+	Silent	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr8:110986297C>T	uc003ynr.3	-	1	663	c.321G>A	c.(319-321)TCG>TCA	p.S107S	KCNV1_uc010mcw.2_Silent_p.S107S	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	107	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGAACGCCTGCGAGCTGCGGT	0.662000												
CSMD3	114788	broad.mit.edu	37	8	113564865	113564865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr8:113564865C>T	uc003ynu.2	-	26	4478	c.4319G>A	c.(4318-4320)CGT>CAT	p.R1440H	CSMD3_uc003yns.2_Missense_Mutation_p.R712H|CSMD3_uc003ynt.2_Missense_Mutation_p.R1400H|CSMD3_uc011lhx.1_Missense_Mutation_p.R1336H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1440	Extracellular (Potential).|CUB 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCACATGCAACGCAGGTTATT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
ZHX2	22882	broad.mit.edu	37	8	123965143	123965143	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr8:123965143G>T	uc003ypk.1	+	3	1960	c.1393G>T	c.(1393-1395)GAC>TAC	p.D465Y		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	465	Required for interaction with NFYA.|Homeobox 2.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAGTTCCCTGACGATGCCGA	0.572000												
TMEFF1	8577	broad.mit.edu	37	9	103279048	103279048	+	Silent	SNP	T	T	C			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr9:103279048T>C	uc004baz.1	+	5	665	c.555T>C	c.(553-555)AAT>AAC	p.N185N	TMEFF1_uc004bay.1_Silent_p.N259N	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	185	Kazal-like 2.|Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				ATGCAGAAAATGTTGGGTGAG	0.398000												
TNC	3371	broad.mit.edu	37	9	117849383	117849383	+	Silent	SNP	G	G	A	rs138151398		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr9:117849383G>A	uc004bjj.3	-	3	989	c.627C>T	c.(625-627)GAC>GAT	p.D209D	TNC_uc010mvf.2_Silent_p.D209D	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	209	EGF-like 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CCGTGAAGCCGTCGTCACAGA	0.602000												
ZNF79	7633	broad.mit.edu	37	9	130206310	130206310	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr9:130206310T>C	uc004bqw.3	+	5	745	c.331T>C	c.(331-333)TGG>CGG	p.W111R	ZNF79_uc011maf.1_Missense_Mutation_p.W87R|ZNF79_uc011mag.1_Missense_Mutation_p.W87R	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TTTTTCAGGCTGGAAGATTAT	0.483000												
AKAP4	8852	broad.mit.edu	37	X	49958235	49958235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:49958235C>T	uc004dow.1	-	5	1253	c.1129G>A	c.(1129-1131)GAG>AAG	p.E377K	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.E199K|AKAP4_uc004dou.1_Missense_Mutation_p.E368K	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	377					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					GACACAATCTCCTTGGTGTGC	0.463000												
TRO	7216	broad.mit.edu	37	X	54956240	54956240	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:54956240G>T	uc004dtq.2	+	12	3190	c.3083G>T	c.(3082-3084)GGT>GTT	p.G1028V	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.G559V|TRO_uc004dtw.2_Missense_Mutation_p.G631V|TRO_uc004dtx.2_Missense_Mutation_p.G411V	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1028	62 X 10 AA approximate tandem repeats.|22; approximate.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						ACCAATGCTGGTTATGGTGGT	0.547000												
AMOT	154796	broad.mit.edu	37	X	112035098	112035098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:112035098G>A	uc004epr.2	-	6	1888	c.1888C>T	c.(1888-1890)CGA>TGA	p.R630*	AMOT_uc004eps.2_Nonsense_Mutation_p.R221*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	630	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CTCTCCAGTCGTGTCCGGAGA	0.483000												
THOC2	57187	broad.mit.edu	37	X	122755146	122755146	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:122755146C>G	uc004etu.2	-	31	4110	c.4078G>C	c.(4078-4080)GAG>CAG	p.E1360Q	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.E181Q	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1360	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GGCTCCTTCTCTCTTTCCCTT	0.368000												
DCAF12L2	340578	broad.mit.edu	37	X	125299117	125299117	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:125299117T>C	uc004euk.1	-	1	818	c.791A>G	c.(790-792)AAG>AGG	p.K264R		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	264	WD 3.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GGCCCGTACCTTGCGGTTGCT	0.637000												
GPR101	83550	broad.mit.edu	37	X	136113194	136113194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:136113194C>T	uc011mwh.1	-	1	640	c.640G>A	c.(640-642)GTG>ATG	p.V214M		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	214	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CAGAACACCACGGAGTAGCAG	0.537000												
PLXNB3	5365	broad.mit.edu	37	X	153043007	153043007	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:153043007G>A	uc004fii.2	+	31	5299	c.5125G>A	c.(5125-5127)GAC>AAC	p.D1709N	PLXNB3_uc010nuk.2_Missense_Mutation_p.D1732N|PLXNB3_uc011mzd.1_Missense_Mutation_p.D1348N|SRPK3_uc004fik.2_5'UTR	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1709	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTTGTGGACGACACCTTCCA	0.627000												
MECP2	4204	broad.mit.edu	37	X	153297980	153297980	+	Missense_Mutation	SNP	G	G	C	rs61754425		TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chrX:153297980G>C	uc004fjv.2	-	3	281	c.55C>G	c.(55-57)CAG>GAG	p.Q19E	MECP2_uc004fjw.2_Missense_Mutation_p.Q31E	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	19					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGCCCTGGAGGTCCTGG	0.478000												
ARID1A	8289	broad.mit.edu	37	1	27106498	27106499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr1:27106497_27106498A>AC	uc001bmv.1	+	19	6481_6482	c.6108_6109A>AC	c.(6106-6111)gaacagfs	p.E2036fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.E1819fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.E882fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.E364fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.E278fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2036					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q2037*(2)|p.E2036*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGAGGAGGAACAGGACCAAGG	0.564			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
PPM1D	8493	broad.mit.edu	37	17	58740624	58740625	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4188-01A-01D-1126-08	TCGA-BR-4188-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1006a43-c576-49f4-aa45-1ab5dfc3b0e4	5719f03a-27b7-4219-b949-38b4d2a86977	g.chr17:58740623_58740624C>CA	uc002iyt.2	+	5	1760_1761	c.1528_1529C>CA	c.(1528-1530)caafs	p.Q510fs	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	510					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGTCATGGACCAAAAAAATTTG	0.376											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
