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
CAMTA1	23261	broad.mit.edu	37	1	7724054	7724054	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:7724054T>G	uc001aoi.2	+	9	1654	c.1447T>G	c.(1447-1449)TTT>GTT	p.F483V		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CACCATGAACTTTGACCCCGA	0.597000												
RNF19B	127544	broad.mit.edu	37	1	33407927	33407927	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:33407927C>T	uc010oho.1	-	7	1539	c.1539G>A	c.(1537-1539)ACG>ACA	p.T513T	RNF19B_uc001bwm.3_Silent_p.T512T|RNF19B_uc010ohp.1_Silent_p.T512T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	513						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAAAGCTGGCCGTTTCGCTGT	0.498000												
GJB3	2707	broad.mit.edu	37	1	35250846	35250846	+	Silent	SNP	G	G	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:35250846G>T	uc001bxx.2	+	2	1098	c.483G>T	c.(481-483)CTG>CTT	p.L161L	GJB3_uc001bxy.2_Silent_p.L161L|GJB3_uc001bxz.3_Silent_p.L161L|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	161	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCCGCGCCTGGTGCAGTGTG	0.557000												
NEGR1	257194	broad.mit.edu	37	1	72076711	72076711	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:72076711C>T	uc001dfw.2	-	5	886	c.786G>A	c.(784-786)AAG>AAA	p.K262K	NEGR1_uc001dfv.2_Silent_p.K134K|NEGR1_uc010oqs.1_Silent_p.K218K	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	262	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GTCCTCACTTCTTCTCTCCTT	0.448000												
TNNI3K	51086	broad.mit.edu	37	1	74954890	74954890	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:74954890T>G	uc001dgf.1	+	22	2190	c.2139T>G	c.(2137-2139)TCT>TCG	p.S713S	TNNI3K_uc001dge.1_Silent_p.S814S	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	713	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						CCGAATTTTCTGAAGTTGTCA	0.358000												
C1orf173	127254	broad.mit.edu	37	1	75097545	75097545	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:75097545A>C	uc001dgg.2	-	7	890	c.671T>G	c.(670-672)CTT>CGT	p.L224R	C1orf173_uc001dgi.3_Missense_Mutation_p.L18R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	224										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AATGTTTGGAAGTTGATATGA	0.403000												
IFI44L	10964	broad.mit.edu	37	1	79101176	79101176	+	Splice_Site	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:79101176T>C	uc010oro.1	+	5	1055	c.876_splice	c.e5+2	p.Q292_splice	IFI44L_uc010orp.1_Splice_Site_p.Q29_splice|IFI44L_uc010orq.1_Splice_Site_p.Q29_splice	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm					0						AGATATCAGGTAAGATTTCTT	0.378000												
IFI44L	10964	broad.mit.edu	37	1	79102722	79102722	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:79102722T>A	uc010oro.1	+	6	1061	c.882T>A	c.(880-882)AAT>AAA	p.N294K	IFI44L_uc010orp.1_Missense_Mutation_p.N31K|IFI44L_uc010orq.1_Missense_Mutation_p.N31K	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	294						cytoplasm					0						AACAGTTTAATTCCCGTAAAC	0.358000												
LPHN2	23266	broad.mit.edu	37	1	82447530	82447530	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:82447530T>A	uc001dit.3	+	18	3282	c.3101T>A	c.(3100-3102)CTT>CAT	p.L1034H	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.L1034H|LPHN2_uc001div.2_Missense_Mutation_p.L1034H|LPHN2_uc009wcd.2_Missense_Mutation_p.L1034H|LPHN2_uc001diw.2_Missense_Mutation_p.L618H|LPHN2_uc009wce.1_Missense_Mutation_p.L135H	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1047	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGTGTCTTCTTGGCCTCACC	0.403000												
TTLL7	79739	broad.mit.edu	37	1	84412920	84412920	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:84412920A>G	uc001djc.2	-	6	789	c.393T>C	c.(391-393)ACT>ACC	p.T131T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	131	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GAAAGATCCAAGTTCGAGGAA	0.323000												
RPTN	126638	broad.mit.edu	37	1	152127241	152127241	+	Silent	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:152127241G>A	uc001ezs.1	-	3	2399	c.2334C>T	c.(2332-2334)GAC>GAT	p.D778D		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	778	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						GGTTCTGCTCGTCTTCATGGG	0.463000												
LCE1C	353133	broad.mit.edu	37	1	152777850	152777850	+	Silent	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:152777850A>C	uc001fap.1	-	2	156	c.105T>G	c.(103-105)CCT>CCG	p.P35P		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	35	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGcacttagggggacact	0.428000												
OR10T2	128360	broad.mit.edu	37	1	158368403	158368403	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:158368403A>C	uc010pih.1	-	1	854	c.854T>G	c.(853-855)CTT>CGT	p.L285R		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AAGAGGATTAAGTAAGGGAGT	0.448000												
OR6Y1	391112	broad.mit.edu	37	1	158517216	158517216	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:158517216A>C	uc010pil.1	-	1	680	c.680T>G	c.(679-681)CTT>CGT	p.L227R		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GATGGTGGCAAGGATAGCAGC	0.532000												
SPTA1	6708	broad.mit.edu	37	1	158590195	158590195	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:158590195T>G	uc001fst.1	-	44	6381	c.6182A>C	c.(6181-6183)AAG>ACG	p.K2061T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2061	Spectrin 20.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTCTTCCATCTTTTCACACCA	0.473000												
CADM3	57863	broad.mit.edu	37	1	159163747	159163747	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:159163747A>G	uc001ftl.2	+	5	750	c.608A>G	c.(607-609)GAT>GGT	p.D203G	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.D237G	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	203	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					CGGGAGGATGATGGGGCGAGC	0.502000												
CEP350	9857	broad.mit.edu	37	1	179965870	179965870	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:179965870T>G	uc001gnt.2	+	6	961	c.578T>G	c.(577-579)GTT>GGT	p.V193G	CEP350_uc001gnr.1_Missense_Mutation_p.V167G|CEP350_uc009wxl.2_Missense_Mutation_p.V192G|CEP350_uc001gnu.2_Missense_Mutation_p.V27G	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	193						centrosome|nucleus|spindle				ovary(4)	4						AATGATACAGTTGTTAGGTTT	0.408000												
CEP350	9857	broad.mit.edu	37	1	179972336	179972336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:179972336G>A	uc001gnt.2	+	7	1429	c.1046G>A	c.(1045-1047)CGA>CAA	p.R349Q	CEP350_uc009wxl.2_Missense_Mutation_p.R348Q|CEP350_uc001gnu.2_Missense_Mutation_p.R183Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	349						centrosome|nucleus|spindle				ovary(4)	4						ACCAAGATTCGAACACCTGAT	0.368000												
HMCN1	83872	broad.mit.edu	37	1	186106025	186106025	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:186106025A>C	uc001grq.1	+	87	13767	c.13538A>C	c.(13537-13539)AAC>ACC	p.N4513T	HMCN1_uc001grs.1_Missense_Mutation_p.N82T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4513	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GTTGCTCGAAACTTAATGGGT	0.423000												
KCNT2	343450	broad.mit.edu	37	1	196459020	196459020	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:196459020A>C	uc001gtd.1	-	3	283	c.223T>G	c.(223-225)TTA>GTA	p.L75V	KCNT2_uc001gte.1_Missense_Mutation_p.L75V|KCNT2_uc001gtf.1_Missense_Mutation_p.L75V|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L75V|KCNT2_uc009wyv.1_Missense_Mutation_p.L75V	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	75	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						ATGTATAATAAGCAGCTTAGT	0.303000												
CFHR5	81494	broad.mit.edu	37	1	196967334	196967334	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:196967334T>C	uc001gts.3	+	7	1175	c.1047T>C	c.(1045-1047)TTT>TTC	p.F349F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	349	Sushi 6.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						GGAAAGAATTTAATCATAATT	0.333000												
CFHR5	81494	broad.mit.edu	37	1	196967340	196967340	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:196967340T>G	uc001gts.3	+	7	1181	c.1053T>G	c.(1051-1053)CAT>CAG	p.H351Q		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	351	Sushi 6.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AATTTAATCATAATTCTAGAA	0.338000												
CRB1	23418	broad.mit.edu	37	1	197390679	197390679	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:197390679T>G	uc001gtz.2	+	6	1856	c.1721T>G	c.(1720-1722)TTT>TGT	p.F574C	CRB1_uc010poz.1_Missense_Mutation_p.F505C|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.F462C|CRB1_uc010ppb.1_Missense_Mutation_p.F574C|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.F55C|CRB1_uc001gub.1_Missense_Mutation_p.F223C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	574	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GAGGTAATATTTGCAGAGGCT	0.433000												
USH2A	7399	broad.mit.edu	37	1	216258109	216258109	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:216258109T>G	uc001hku.1	-	25	5485	c.5098A>C	c.(5098-5100)ATC>CTC	p.I1700L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1700	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACACGTTGATTTGTTCTTCA	0.428000										HNSCC(13;0.011)		
PCNXL2	80003	broad.mit.edu	37	1	233134183	233134183	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:233134183T>A	uc001hvl.2	-	32	5840	c.5605A>T	c.(5605-5607)ATG>TTG	p.M1869L	PCNXL2_uc001hvk.1_Missense_Mutation_p.M521L|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1869						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCTTCCGCATCCTGTGGGAG	0.582000												
LYST	1130	broad.mit.edu	37	1	235904748	235904748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:235904748G>A	uc001hxj.2	-	31	8507	c.8332C>T	c.(8332-8334)CGA>TGA	p.R2778*	LYST_uc009xga.1_Nonsense_Mutation_p.R414*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2778					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGACAGTCTCGTAGTATTTCC	0.388000									Chediak-Higashi_syndrome			
MTR	4548	broad.mit.edu	37	1	237049613	237049613	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:237049613A>C	uc001hyi.3	+	27	3220	c.2797A>C	c.(2797-2799)AGT>CGT	p.S933R	MTR_uc010pxw.1_Missense_Mutation_p.S526R|MTR_uc010pxx.1_Missense_Mutation_p.S882R|MTR_uc010pxy.1_Missense_Mutation_p.S787R	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	933	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTTACCCTTAAGTCAAGCCAG	0.413000												
FMN2	56776	broad.mit.edu	37	1	240374532	240374532	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:240374532A>C	uc010pyd.1	+	6	4287	c.4062A>C	c.(4060-4062)AAA>AAC	p.K1354N	FMN2_uc010pye.1_Missense_Mutation_p.K1358N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1354	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGAAGGCTAAACAAGTGAGTA	0.338000												
OR2L2	26246	broad.mit.edu	37	1	248202142	248202142	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:248202142T>C	uc001idw.2	+	1	669	c.573T>C	c.(571-573)ACT>ACC	p.T191T	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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;0.0278)			GCACAGACACTTGGGTCTATG	0.458000												
OR2T5	401993	broad.mit.edu	37	1	248651944	248651944	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr1:248651944A>C	uc001iem.1	+	1	55	c.55A>C	c.(55-57)ATG>CTG	p.M19L		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCATCCTCATGGGACTCTT	0.483000												
PRKCQ	5588	broad.mit.edu	37	10	6520990	6520990	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:6520990C>T	uc001ijj.1	-	12	1392	c.1317G>A	c.(1315-1317)CCG>CCA	p.P439P	PRKCQ_uc009xim.1_Silent_p.P439P|PRKCQ_uc001iji.1_Silent_p.P472P|PRKCQ_uc009xin.1_Silent_p.P403P|PRKCQ_uc010qax.1_Silent_p.P314P	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	439	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						GCGTCAGAAACGGATGCTCCC	0.478000												
SEPHS1	22929	broad.mit.edu	37	10	13370452	13370452	+	Splice_Site	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:13370452T>A	uc001imk.2	-	7	1011	c.652_splice	c.e7-1	p.P218_splice	SEPHS1_uc001imh.2_Splice_Site_p.P142_splice|SEPHS1_uc010qbs.1_Splice_Site_p.P170_splice|SEPHS1_uc001imi.2_Splice_Site_p.P218_splice|SEPHS1_uc001imj.2_Splice_Site_p.P218_splice|SEPHS1_uc010qbt.1_Splice_Site_p.P151_splice	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1						protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						TTTCTCAGGCTGATAATAGAA	0.403000												
CUBN	8029	broad.mit.edu	37	10	16970291	16970291	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:16970291A>C	uc001ioo.2	-	41	6188	c.6136T>G	c.(6136-6138)TTG>GTG	p.L2046V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2046	CUB 14.				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)	TGCTGGGCCAAGTTATTATCT	0.473000												
ARL5B	221079	broad.mit.edu	37	10	18957582	18957582	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:18957582G>C	uc001iqd.1	+	3	485	c.231G>C	c.(229-231)TGG>TGC	p.W77C		NM_178815	NP_848930	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 8	77					small GTPase mediated signal transduction	intracellular	GTP binding			ovary(1)	1						GATCATCCTGGAACACATATT	0.383000												
CSTF2T	23283	broad.mit.edu	37	10	53458078	53458078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:53458078C>T	uc001jjp.2	-	1	1278	c.1232G>A	c.(1231-1233)GGT>GAT	p.G411D	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	411	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ATCTCTACCACCTCTACCATC	0.522000												
DKK1	22943	broad.mit.edu	37	10	54074399	54074399	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:54074399C>T	uc001jjr.2	+	1	359	c.205C>T	c.(205-207)CCG>TCG	p.P69S	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	69					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						AATCCTGTACCCGGGCGGGAA	0.617000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM13C	220965	broad.mit.edu	37	10	61011428	61011428	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:61011428A>C	uc001jkn.2	-	14	1675	c.1541T>G	c.(1540-1542)CTT>CGT	p.L514R	FAM13C_uc001jko.2_Missense_Mutation_p.L416R|FAM13C_uc010qid.1_Missense_Mutation_p.L430R|FAM13C_uc010qie.1_Missense_Mutation_p.L431R|FAM13C_uc010qif.1_Missense_Mutation_p.L536R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	514										ovary(2)	2						ATGGTCAAGAAGTACAGGCCT	0.393000												
FAM190B	54462	broad.mit.edu	37	10	86131567	86131567	+	Silent	SNP	T	T	A	rs146103957	byFrequency	TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:86131567T>A	uc001kdh.1	+	2	953	c.759T>A	c.(757-759)CCT>CCA	p.P253P	FAM190B_uc001kdg.1_Silent_p.P253P|FAM190B_uc010qmd.1_Silent_p.P253P	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	253										ovary(3)|skin(1)	4						TTACAAAGCCTTATCAGAACC	0.408000												
LIPF	8513	broad.mit.edu	37	10	90435384	90435384	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:90435384T>G	uc001kfg.1	+	8	1024	c.858T>G	c.(856-858)ACT>ACG	p.T286T	LIPF_uc001kfh.1_Silent_p.T263T|LIPF_uc010qmt.1_Silent_p.T296T|LIPF_uc010qmu.1_Silent_p.T253T	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	286					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CAGCAGGAACTTCTGTTCAAA	0.348000												
CYP2E1	1571	broad.mit.edu	37	10	135340998	135340998	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr10:135340998C>T	uc001lnj.1	+	1	132	c.99C>T	c.(97-99)CCC>CCT	p.P33P	CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	33					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGAATCTGCCCCCAGGCCCTT	0.572000									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
LRDD	55367	broad.mit.edu	37	11	803460	803460	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:803460C>T	uc001lro.1	-	3	565	c.423G>A	c.(421-423)CCG>CCA	p.P141P	LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Silent_p.P141P|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	141	LRR 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACACAGGCCGGCAGTGTCT	0.667000												
KCNQ1	3784	broad.mit.edu	37	11	2549242	2549242	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:2549242C>T	uc001lwn.2	+	2	579	c.471C>T	c.(469-471)TTC>TTT	p.F157F	KCNQ1_uc009ydo.1_3'UTR|KCNQ1_uc009ydp.1_Missense_Mutation_p.S10F|KCNQ1_uc001lwo.2_Silent_p.F30F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	157	Helical; Name=Segment S2; (Potential).		F -> C (in LQT1).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGACTCTCTTCTGGATGGTAC	0.617000												
OR51F2	119694	broad.mit.edu	37	11	4843208	4843208	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:4843208T>C	uc010qyn.1	+	1	593	c.593T>C	c.(592-594)CTC>CCC	p.L198P		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	198	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGTTGATCTCATCCAACTC	0.473000												
OR52N1	79473	broad.mit.edu	37	11	5809914	5809914	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:5809914A>C	uc010qzo.1	-	1	133	c.133T>G	c.(133-135)TTC>GTC	p.F45V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAAGGCCGAAGTTCCCTGTA	0.463000												
NLRP14	338323	broad.mit.edu	37	11	7064294	7064294	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:7064294A>C	uc001mfb.1	+	4	1360	c.1037A>C	c.(1036-1038)AAG>ACG	p.K346T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	346	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTTGAAGATAAGAGGTGGGCC	0.423000												
KCNC1	3746	broad.mit.edu	37	11	17793502	17793502	+	Silent	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:17793502G>A	uc001mnk.3	+	2	916	c.861G>A	c.(859-861)CTG>CTA	p.L287L	KCNC1_uc009yhc.1_Silent_p.L287L	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	287	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						TGGCCATCCTGCCCTTCTACC	0.577000												
NELL1	4745	broad.mit.edu	37	11	20907078	20907078	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:20907078T>C	uc001mqe.2	+	5	748	c.595T>C	c.(595-597)TTA>CTA	p.L199L	NELL1_uc001mqf.2_Silent_p.L199L|NELL1_uc009yid.2_Silent_p.L227L|NELL1_uc010rdo.1_Silent_p.L142L|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	199	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						AAAGCATGGCTTATTCAAAGT	0.388000												
ANO3	63982	broad.mit.edu	37	11	26663444	26663444	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:26663444T>C	uc001mqt.3	+	22	2288	c.2143T>C	c.(2143-2145)TTG>CTG	p.L715L	ANO3_uc010rdr.1_Silent_p.L699L|ANO3_uc010rds.1_Silent_p.L554L|ANO3_uc010rdt.1_Silent_p.L569L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	715	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGATGTAGGTTGATCCAGAA	0.423000												
KCNA4	3739	broad.mit.edu	37	11	30033274	30033274	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:30033274A>T	uc001msk.2	-	2	2104	c.952T>A	c.(952-954)TTA>ATA	p.L318I		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	318	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATGGAGATTAAGATGACCAGG	0.502000												
IMMP1L	196294	broad.mit.edu	37	11	31454111	31454111	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:31454111C>A	uc001msy.1	-	7	633	c.437G>T	c.(436-438)TGG>TTG	p.W146L	IMMP1L_uc001msz.1_Missense_Mutation_p.W146L|DNAJC24_uc001msx.2_3'UTR|DNAJC24_uc009yjm.2_3'UTR|DNAJC24_uc009yjn.1_RNA	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	146					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					ACTCAGAGGCCAAATCTGTAA	0.353000												
OR4S1	256148	broad.mit.edu	37	11	48327862	48327862	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:48327862T>G	uc010rhu.1	+	1	88	c.88T>G	c.(88-90)TTC>GTC	p.F30V		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGTGGTATTCTTCCTCTTTCA	0.453000												
OR4C13	283092	broad.mit.edu	37	11	49974429	49974429	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:49974429T>G	uc010rhz.1	+	1	455	c.455T>G	c.(454-456)CTT>CGT	p.L152R		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						GGAGGCTTTCTTCATGCAACC	0.448000												
OR4A5	81318	broad.mit.edu	37	11	51411522	51411522	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:51411522T>C	uc001nhi.1	-	1	874	c.874A>G	c.(874-876)AGA>GGA	p.R292G		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	292	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				ATAGCATTTCTCATCTCTGAA	0.343000												
OR5D14	219436	broad.mit.edu	37	11	55563320	55563320	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55563320T>G	uc010rim.1	+	1	289	c.289T>G	c.(289-291)TTT>GTT	p.F97V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				CATCTTCTACTTTAGCTGCAT	0.453000												
SPRYD5	84767	broad.mit.edu	37	11	55653074	55653074	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55653074A>C	uc010rip.1	+	2	262	c.170A>C	c.(169-171)AAG>ACG	p.K57T	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	57						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				GAATGCAAGAAGACAACGCGG	0.512000												
SPRYD5	84767	broad.mit.edu	37	11	55659067	55659067	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55659067T>C	uc010rip.1	+	7	1410	c.1318T>C	c.(1318-1320)TCA>CCA	p.S440P	SPRYD5_uc010riq.1_Missense_Mutation_p.S297P	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	440	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TTGCTCCTTCTCACCTCCTCT	0.458000												
OR8J3	81168	broad.mit.edu	37	11	55905014	55905014	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55905014A>G	uc010riz.1	-	1	181	c.181T>C	c.(181-183)TTT>CTT	p.F61L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					CTCAGGAAAAAGTACATGGGG	0.443000												
OR5J2	282775	broad.mit.edu	37	11	55944631	55944631	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:55944631G>T	uc010rjb.1	+	1	538	c.538G>T	c.(538-540)GAC>TAC	p.D180Y		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					CTTCTTCTGTGACATTCCTTC	0.448000												
OR5T3	390154	broad.mit.edu	37	11	56020319	56020319	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:56020319T>A	uc010rjd.1	+	1	644	c.644T>A	c.(643-645)CTT>CAT	p.L215H		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	215	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					CCTCCTCTCCTTGCTATTTCT	0.403000												
OR8K1	390157	broad.mit.edu	37	11	56113842	56113842	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:56113842T>G	uc010rjg.1	+	1	328	c.328T>G	c.(328-330)TTT>GTT	p.F110V		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GCTAGCATTCTTTGAGATTTT	0.408000										HNSCC(65;0.19)		
OR5M11	219487	broad.mit.edu	37	11	56309940	56309940	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:56309940T>A	uc010rjl.1	-	1	794	c.794A>T	c.(793-795)AAG>ATG	p.K265M		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCAACAGTCTTATCTGTTGG	0.418000												
MPEG1	219972	broad.mit.edu	37	11	58979085	58979085	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:58979085C>T	uc001nnu.3	-	1	1410	c.1254G>A	c.(1252-1254)CCG>CCA	p.P418P		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	418	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				ACAGGTGCACCGGGGAGTAGC	0.542000												
GIF	2694	broad.mit.edu	37	11	59599167	59599167	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:59599167T>C	uc001noi.2	-	8	1224	c.1176A>G	c.(1174-1176)GTA>GTG	p.V392V		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	392	Cobalamin binding.				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						TCAAAGGTGTTACACCACTAA	0.343000												
GIF	2694	broad.mit.edu	37	11	59609977	59609977	+	Silent	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:59609977G>A	uc001noi.2	-	4	498	c.450C>T	c.(448-450)ACC>ACT	p.T150T	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						CTATCGGCAAGGTCGCCTCAG	0.577000												
OVOL1	5017	broad.mit.edu	37	11	65562559	65562559	+	Missense_Mutation	SNP	C	C	T	rs151272806		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:65562559C>T	uc001ofp.2	+	4	867	c.551C>T	c.(550-552)ACG>ATG	p.T184M	OVOL1_uc001ofq.2_Missense_Mutation_p.T122M	NM_004561	NP_004552	O14753	OVOL1_HUMAN	OVO-like 1 binding protein	184	C2H2-type 3.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.17)		AAGGCCTTCACGCAGCGCTGC	0.617000												
DLG2	1740	broad.mit.edu	37	11	84996396	84996396	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:84996396A>G	uc001pak.2	-	4	366	c.54T>C	c.(52-54)TTT>TTC	p.F18F		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	Error:Variant_position_missing_in_Q15700_after_alignment						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACCTCATAAAATTCTTGGA	0.333000												
GRM5	2915	broad.mit.edu	37	11	88258487	88258487	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:88258487T>G	uc001pcq.2	-	8	2916	c.2716A>C	c.(2716-2718)ACA>CCA	p.T906P	GRM5_uc009yvm.2_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	906	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTGCTCATTGTTGCTCTCCCA	0.507000												
TYR	7299	broad.mit.edu	37	11	88911404	88911404	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:88911404T>C	uc001pcs.2	+	1	365	c.283T>C	c.(283-285)TTC>CTC	p.F95L		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	95	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTCTGGCAACTTCATGGGATT	0.502000									Oculocutaneous_Albinism			
KDM4D	55693	broad.mit.edu	37	11	94732108	94732108	+	Nonstop_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:94732108A>C	uc001pfe.2	+	3	2404	c.1572A>C	c.(1570-1572)TAA>TAC	p.*524Y		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	524					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTGTGCCCTAAGTCCACGGGC	0.532000												
TRPC6	7225	broad.mit.edu	37	11	101454101	101454101	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:101454101T>C	uc001pgk.3	-	1	559	c.134A>G	c.(133-135)CAA>CGA	p.Q45R	TRPC6_uc009ywy.2_Missense_Mutation_p.Q45R|TRPC6_uc009ywz.1_Missense_Mutation_p.Q45R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	45	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAGCGGGGCTTGCGGGCAGCC	0.716000												
CARD18	59082	broad.mit.edu	37	11	105009613	105009613	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:105009613T>C	uc001pis.2	-	1	200	c.194A>G	c.(193-195)AAG>AGG	p.K65R		NM_021571	NP_067546	P57730	CAR18_HUMAN	ICEBERG caspase-1 inhibitor	67	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2						GCAGCAAGACTTGGGTCCTTT	0.418000												
ELMOD1	55531	broad.mit.edu	37	11	107518220	107518220	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:107518220T>G	uc010rvs.1	+	7	851	c.447T>G	c.(445-447)ACT>ACG	p.T149T	ELMOD1_uc001pjm.2_Silent_p.T149T|ELMOD1_uc010rvt.1_Silent_p.T143T	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	149	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCCCAATACTCCACTGGAAT	0.383000												
DRD2	1813	broad.mit.edu	37	11	113295322	113295322	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:113295322A>G	uc001pnz.2	-	1	373	c.52T>C	c.(52-54)TGG>CGG	p.W18R	DRD2_uc010rwv.1_Missense_Mutation_p.W18R|DRD2_uc001poa.3_Missense_Mutation_p.W18R|DRD2_uc001pob.3_Missense_Mutation_p.W18R|DRD2_uc009yyr.1_Missense_Mutation_p.W18R	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	18	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGCCGGCTCCAGTTCTGCCTC	0.582000												
MLL	4297	broad.mit.edu	37	11	118392870	118392870	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:118392870C>T	uc001pta.2	+	36	11916	c.11893C>T	c.(11893-11895)CGG>TGG	p.R3965W	MLL_uc001ptb.2_Missense_Mutation_p.R3968W|MLL_uc001ptf.2_5'Flank	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3965	Post-SET.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAGAAATGCCGGAAGTTCCT	0.542000			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
TECTA	7007	broad.mit.edu	37	11	121008322	121008322	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:121008322T>G	uc010rzo.1	+	10	3134	c.3134T>G	c.(3133-3135)CTT>CGT	p.L1045R		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1045					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGCACCAACTTGCCACCAAT	0.567000												
OR6X1	390260	broad.mit.edu	37	11	123624329	123624329	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:123624329T>G	uc010rzy.1	-	1	898	c.898A>C	c.(898-900)AGA>CGA	p.R300R		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATTGCCTTTCTTAAGGCTCCC	0.388000												
OR10G4	390264	broad.mit.edu	37	11	123886648	123886648	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:123886648T>G	uc010sac.1	+	1	367	c.367T>G	c.(367-369)TTG>GTG	p.L123V		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGATCGCTACTTGGCCATCAG	0.567000												
OR10G8	219869	broad.mit.edu	37	11	123900631	123900631	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:123900631A>C	uc001pzp.1	+	1	302	c.302A>C	c.(301-303)TAT>TCT	p.Y101S		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCTCAGCTCTATTTCTTTCAC	0.537000												
VWA5A	4013	broad.mit.edu	37	11	124007748	124007748	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr11:124007748A>G	uc001pzu.2	+	15	1861	c.1652A>G	c.(1651-1653)AAG>AGG	p.K551R	VWA5A_uc001pzt.2_Missense_Mutation_p.K551R	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	551										upper_aerodigestive_tract(1)|ovary(1)	2						CTTGCTGCCAAGTCCTTGCTC	0.458000												
PZP	5858	broad.mit.edu	37	12	9303324	9303324	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:9303324T>G	uc001qvl.2	-	34	4329	c.4300A>C	c.(4300-4302)AGT>CGT	p.S1434R	PZP_uc009zgl.2_Missense_Mutation_p.S1220R	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AAGGAAAAACTTAGCGTCTGA	0.383000												
CLEC2B	9976	broad.mit.edu	37	12	10005931	10005931	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:10005931T>G	uc001qwn.2	-	5	1075	c.418A>C	c.(418-420)AGA>CGA	p.R140R		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	140	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						ATCCATTTTCTTTCGGTGTAA	0.378000												
SLCO1B1	10599	broad.mit.edu	37	12	21392083	21392083	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:21392083T>G	uc001req.3	+	15	2140	c.2036T>G	c.(2035-2037)TTT>TGT	p.F679C		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	679	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AATAAACATTTTGTCCCTTCT	0.358000												
KCNJ8	3764	broad.mit.edu	37	12	21919240	21919240	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:21919240T>G	uc001rff.2	-	3	1030	c.692A>C	c.(691-693)AAG>ACG	p.K231T		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	231	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	AGTTGTTTTCTTGACCACCTG	0.493000												
ABCC9	10060	broad.mit.edu	37	12	22025656	22025656	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:22025656T>G	uc001rfi.1	-	16	2121	c.2101A>C	c.(2101-2103)ACC>CCC	p.T701P	ABCC9_uc001rfh.2_Missense_Mutation_p.T701P|ABCC9_uc001rfj.1_Missense_Mutation_p.T665P	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	701	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAATCATGGTTAACTGACCT	0.403000												
OVCH1	341350	broad.mit.edu	37	12	29608191	29608191	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:29608191T>C	uc001rix.1	-	20	2428	c.2428A>G	c.(2428-2430)AAA>GAA	p.K810E		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	810	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCATTGATTTTTGATTGGATC	0.413000												
LRRK2	120892	broad.mit.edu	37	12	40668743	40668743	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:40668743T>G	uc001rmg.3	+	16	2010	c.1889T>G	c.(1888-1890)ATT>AGT	p.I630S	LRRK2_uc001rmh.1_Missense_Mutation_p.I252S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	630					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGGCAAAAATTCTGGTTTCC	0.353000												
LRRK2	120892	broad.mit.edu	37	12	40740625	40740625	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:40740625T>G	uc001rmg.3	+	42	6301	c.6180T>G	c.(6178-6180)GGT>GGG	p.G2060G	LRRK2_uc009zjw.2_Silent_p.G898G|LRRK2_uc001rmi.2_Silent_p.G893G	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2060	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTCATTTGGTTTACTACTCT	0.338000												
ADAMTS20	80070	broad.mit.edu	37	12	43860519	43860519	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:43860519T>G	uc010skx.1	-	9	1303	c.1303A>C	c.(1303-1305)AGT>CGT	p.S435R		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	435	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGTGAAAACTTAAAGCAGGG	0.308000												
MAP3K12	7786	broad.mit.edu	37	12	53878136	53878136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:53878136G>A	uc001sdm.1	-	8	1152	c.1054C>T	c.(1054-1056)CGA>TGA	p.R352*	MAP3K12_uc001sdn.1_Nonsense_Mutation_p.R385*	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	352	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						GGGCGATTTCGTGGTTTGCTA	0.458000												
OR6C3	254786	broad.mit.edu	37	12	55725759	55725759	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:55725759A>C	uc010spj.1	+	1	275	c.275A>C	c.(274-276)AAC>ACC	p.N92T		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATTTCCTATAACAACTGTGCA	0.413000												
LRIG3	121227	broad.mit.edu	37	12	59307779	59307779	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:59307779T>C	uc001sqr.2	-	3	613	c.367A>G	c.(367-369)ATT>GTT	p.I123V	LRIG3_uc009zqh.2_Missense_Mutation_p.I63V|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	123	LRR 3.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			AGAAGTGTAATATTTGCCGAG	0.383000												
TRHDE	29953	broad.mit.edu	37	12	72969051	72969051	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:72969051T>C	uc001sxa.2	+	11	2043	c.2013T>C	c.(2011-2013)ACT>ACC	p.T671T		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	671	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						ACAGAATAACTTATTTGGACA	0.338000												
KCNC2	3747	broad.mit.edu	37	12	75444468	75444468	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:75444468A>G	uc001sxg.1	-	3	1861	c.1317T>C	c.(1315-1317)GGT>GGC	p.G439G	KCNC2_uc009zry.2_Silent_p.G439G|KCNC2_uc001sxe.2_Silent_p.G439G|KCNC2_uc001sxf.2_Silent_p.G439G|KCNC2_uc010stw.1_Silent_p.G439G	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	439	Selectivity filter (By similarity).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						TATCCCCATAACCCAGGGTAG	0.537000												
E2F7	144455	broad.mit.edu	37	12	77438527	77438527	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:77438527T>G	uc001sym.3	-	6	1114	c.878A>C	c.(877-879)AAG>ACG	p.K293T		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	293	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						CATGACAAACTTCTGGCTCAT	0.398000												
SYT1	6857	broad.mit.edu	37	12	79747354	79747354	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:79747354C>A	uc001sys.2	+	10	1554	c.883C>A	c.(883-885)CTG>ATG	p.L295M	SYT1_uc001syt.2_Missense_Mutation_p.L295M|SYT1_uc001syu.2_Missense_Mutation_p.L292M|SYT1_uc001syv.2_Missense_Mutation_p.L295M	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	295	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 2.				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						TGTTGTCATTCTGGAGGCAAA	0.428000												
LIN7A	8825	broad.mit.edu	37	12	81283099	81283099	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:81283099T>G	uc001szj.1	-	2	325	c.132A>C	c.(130-132)GAA>GAC	p.E44D	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	44	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						GCACTGGTACTTCTCCAGATT	0.333000												
PPFIA2	8499	broad.mit.edu	37	12	81741391	81741391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:81741391G>A	uc001szo.1	-	18	2314	c.2153C>T	c.(2152-2154)CCC>CTC	p.P718L	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	644										ovary(3)|lung(2)|pancreas(1)	6						TCCACTGGGGGGAGATGAACT	0.557000												
LRRIQ1	84125	broad.mit.edu	37	12	85626509	85626509	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:85626509T>G	uc001tac.2	+	26	5102	c.4991T>G	c.(4990-4992)CTT>CGT	p.L1664R		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1664										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CCAGATGTACTTAATGGTGGA	0.328000												
MGAT4C	25834	broad.mit.edu	37	12	86383276	86383276	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:86383276T>C	uc001tai.3	-	6	1299	c.49A>G	c.(49-51)ATG>GTG	p.M17V	MGAT4C_uc001tal.3_Missense_Mutation_p.M17V|MGAT4C_uc001taj.3_Missense_Mutation_p.M17V|MGAT4C_uc001tak.3_Missense_Mutation_p.M17V|MGAT4C_uc010sum.1_Missense_Mutation_p.M41V|MGAT4C_uc001tah.3_Missense_Mutation_p.M17V	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	17	Cytoplasmic (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AGGCATCTCATTTTATCAAGT	0.328000												
RFX4	5992	broad.mit.edu	37	12	107141233	107141233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:107141233C>T	uc001tlr.2	+	16	1718	c.1652C>T	c.(1651-1653)ACG>ATG	p.T551M	RFX4_uc001tlt.2_Missense_Mutation_p.T560M|RFX4_uc001tlv.2_Missense_Mutation_p.T457M	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	551					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						CAGTCTTACACGTGGTCTCTA	0.438000												
ATXN2	6311	broad.mit.edu	37	12	111957774	111957774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:111957774C>T	uc001tsj.2	-	8	1537	c.1375G>A	c.(1375-1377)GCC>ACC	p.A459T	ATXN2_uc001tsh.2_Missense_Mutation_p.A194T|ATXN2_uc001tsi.2_Missense_Mutation_p.A170T|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.A194T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	459					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TTTTCCAGGGCCACTCGAGCT	0.413000												
PRKAB1	5564	broad.mit.edu	37	12	120106129	120106129	+	Missense_Mutation	SNP	G	G	A	rs61748075	byFrequency	TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:120106129G>A	uc009zwu.2	+	2	183	c.80G>A	c.(79-81)GGC>GAC	p.G27D	PRKAB1_uc001txg.2_Missense_Mutation_p.G27D	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	27					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGCTCGGGGGGCACCAAGGAC	0.662000												
TMEM132B	114795	broad.mit.edu	37	12	126138479	126138479	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:126138479C>T	uc001uhe.1	+	9	2468	c.2460C>T	c.(2458-2460)CGC>CGT	p.R820R	TMEM132B_uc001uhf.1_Silent_p.R332R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	820	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATAGAGCGCGAAGGAAACC	0.493000												
TMEM132B	114795	broad.mit.edu	37	12	126139242	126139242	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:126139242C>G	uc001uhe.1	+	9	3231	c.3223C>G	c.(3223-3225)CAA>GAA	p.Q1075E	TMEM132B_uc001uhf.1_Missense_Mutation_p.Q587E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1075	Cytoplasmic (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAAAGTCTGCAAGACCAGAT	0.428000												
MMP17	4326	broad.mit.edu	37	12	132325352	132325352	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr12:132325352C>T	uc001ujc.1	+	4	756	c.657C>T	c.(655-657)GCC>GCT	p.A219A	MMP17_uc001ujd.1_Silent_p.A135A	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	219					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		ACCACACCGCCGGGGACACCC	0.692000												
SHISA2	387914	broad.mit.edu	37	13	26620785	26620785	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:26620785C>T	uc001uqm.1	-	2	839	c.754G>A	c.(754-756)GTG>ATG	p.V252M		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	252	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						TCGTGCTGCACCGTGTACCCC	0.577000												
SOHLH2	54937	broad.mit.edu	37	13	36776025	36776025	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:36776025T>C	uc001uvj.2	-	2	343	c.254A>G	c.(253-255)AAG>AGG	p.K85R	SOHLH2_uc010tei.1_Missense_Mutation_p.K162R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	85					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCTAATTAACTTGATGGCTTC	0.368000												
C13orf36	400120	broad.mit.edu	37	13	37269503	37269503	+	Silent	SNP	C	C	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:37269503C>G	uc001uvt.3	+	2	734	c.288C>G	c.(286-288)TCC>TCG	p.S96S		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	96						integral to membrane				skin(1)	1						GCAGCATTTCCTCTCAGAGGT	0.478000												
TRPC4	7223	broad.mit.edu	37	13	38211727	38211727	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:38211727T>G	uc001uws.2	-	11	2482	c.2247A>C	c.(2245-2247)GAA>GAC	p.E749D	TRPC4_uc010abv.2_Missense_Mutation_p.E329D|TRPC4_uc001uwt.2_Missense_Mutation_p.E749D|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.E576D|TRPC4_uc010abx.2_Missense_Mutation_p.E754D|TRPC4_uc010aby.2_Missense_Mutation_p.E684D	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	749	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCCCAGGACTTCAAAGCGGA	0.368000												
TRPC4	7223	broad.mit.edu	37	13	38229328	38229328	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:38229328T>C	uc001uws.2	-	7	2016	c.1781A>G	c.(1780-1782)GAG>GGG	p.E594G	TRPC4_uc010abv.2_Missense_Mutation_p.E174G|TRPC4_uc001uwt.2_Missense_Mutation_p.E594G|TRPC4_uc010tey.1_Missense_Mutation_p.E594G|TRPC4_uc010abw.2_Missense_Mutation_p.E421G|TRPC4_uc010abx.2_Missense_Mutation_p.E594G|TRPC4_uc010aby.2_Missense_Mutation_p.E594G	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	594	Extracellular (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACCAACAAACTCAGTAAATTC	0.368000												
FREM2	341640	broad.mit.edu	37	13	39262883	39262883	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:39262883T>C	uc001uwv.2	+	1	1711	c.1402T>C	c.(1402-1404)TTG>CTG	p.L468L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	468	Extracellular (Potential).|CSPG 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCGCAAAACTTGGTCATCAG	0.587000												
KLHL1	57626	broad.mit.edu	37	13	70314643	70314643	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:70314643T>G	uc001vip.2	-	8	2479	c.1685A>C	c.(1684-1686)GAT>GCT	p.D562A	KLHL1_uc010thm.1_Missense_Mutation_p.D501A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	562	Kelch 3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCTCCAGCCATCATGGCCTCC	0.363000												
TBC1D4	9882	broad.mit.edu	37	13	75936660	75936660	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:75936660G>T	uc001vjl.1	-	2	929	c.582C>A	c.(580-582)GAC>GAA	p.D194E	TBC1D4_uc010aer.2_Missense_Mutation_p.D194E|TBC1D4_uc010aes.2_Missense_Mutation_p.D194E	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	194	PID 1.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGTAAAAGGCGTCCTCATTAT	0.468000												
DZIP1	22873	broad.mit.edu	37	13	96237108	96237108	+	Silent	SNP	A	A	G	rs140431438		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:96237108A>G	uc001vmk.2	-	22	3258	c.2406T>C	c.(2404-2406)TCT>TCC	p.S802S	DZIP1_uc001vmi.2_Silent_p.S50S|DZIP1_uc001vmj.2_Silent_p.S278S|DZIP1_uc001vml.2_Silent_p.S783S|DZIP1_uc001vmm.2_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	802					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTTTCCCAAAGATATCTCTT	0.408000												
STK24	8428	broad.mit.edu	37	13	99114041	99114041	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr13:99114041A>C	uc001vnm.1	-	8	1311	c.1076T>G	c.(1075-1077)TTG>TGG	p.L359W	STK24_uc001vnn.1_Missense_Mutation_p.L347W|STK24_uc010tim.1_Missense_Mutation_p.L328W	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	359					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATTTCTGTCCAAGTCCGATGG	0.537000												
OR4N2	390429	broad.mit.edu	37	14	20295735	20295735	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:20295735T>G	uc010tkv.1	+	1	128	c.128T>G	c.(127-129)TTT>TGT	p.F43C		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGGAAATTTTCTCATTATT	0.443000												
MYH6	4624	broad.mit.edu	37	14	23869976	23869976	+	Missense_Mutation	SNP	T	T	A	rs112494241		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:23869976T>A	uc001wjv.2	-	13	1419	c.1352A>T	c.(1351-1353)AAG>ATG	p.K451M	MYH6_uc010akp.1_Missense_Mutation_p.K451M	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	451	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCGTGGCTGCTTGGTCTCCAG	0.567000												
LRFN5	145581	broad.mit.edu	37	14	42356513	42356513	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:42356513A>G	uc001wvm.2	+	3	1883	c.685A>G	c.(685-687)AGC>GGC	p.S229G	LRFN5_uc010ana.2_Missense_Mutation_p.S229G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	229	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGAATCATAAGCCCATCTAC	0.443000										HNSCC(30;0.082)		
SLC8A3	6547	broad.mit.edu	37	14	70634007	70634007	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:70634007T>G	uc001xly.2	-	2	1887	c.1133A>C	c.(1132-1134)AAG>ACG	p.K378T	SLC8A3_uc001xlw.2_Missense_Mutation_p.K378T|SLC8A3_uc001xlx.2_Missense_Mutation_p.K378T|SLC8A3_uc001xlz.2_Missense_Mutation_p.K378T|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	378	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGAGGCCTTCTTGGCTTGTTC	0.512000												
SERPINA10	51156	broad.mit.edu	37	14	94754773	94754773	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:94754773T>G	uc001yct.2	-	3	1308	c.842A>C	c.(841-843)AAG>ACG	p.K281T	SERPINA10_uc001ycu.3_Missense_Mutation_p.K281T	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	281					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACGAAAATTCTTGTCAAAGGT	0.507000												
SERPINA9	327657	broad.mit.edu	37	14	94933607	94933607	+	Silent	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr14:94933607A>C	uc001ydf.2	-	3	956	c.795T>G	c.(793-795)GCT>GCG	p.A265A	SERPINA9_uc001yde.2_Silent_p.A165A|SERPINA9_uc010avc.2_Silent_p.A116A|SERPINA9_uc001ydg.2_Silent_p.A229A|SERPINA9_uc001ydh.1_Silent_p.A265A|SERPINA9_uc001ydi.1_Silent_p.A229A	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	247					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CCACCCCAAAAGCGAACTGCT	0.522000												
RYR3	6263	broad.mit.edu	37	15	33928718	33928718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:33928718G>A	uc001zhi.2	+	27	3593	c.3523G>A	c.(3523-3525)GAA>AAA	p.E1175K	RYR3_uc010bar.2_Missense_Mutation_p.E1175K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1175	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAAGGCTCTGAACTTGCCTT	0.502000												
EIF2AK4	440275	broad.mit.edu	37	15	40258023	40258023	+	Silent	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:40258023G>A	uc001zkm.1	+	8	1046	c.996G>A	c.(994-996)AAG>AAA	p.K332K	EIF2AK4_uc001zkl.2_Silent_p.K332K|EIF2AK4_uc010bbj.1_Silent_p.K61K	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	332	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAAAGAGAAGATTGATAAGT	0.443000												
SLC12A1	6557	broad.mit.edu	37	15	48533782	48533782	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:48533782T>C	uc001zwn.3	+	10	1502	c.1286T>C	c.(1285-1287)GTT>GCT	p.V429A	SLC12A1_uc010uew.1_Missense_Mutation_p.V235A|SLC12A1_uc010bem.2_Missense_Mutation_p.V429A|SLC12A1_uc001zwq.3_Missense_Mutation_p.V200A|SLC12A1_uc001zwr.3_Missense_Mutation_p.V156A	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	429	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TACTTAGGGGTTGCAATTTGT	0.448000												
SECISBP2L	9728	broad.mit.edu	37	15	49284561	49284561	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:49284561C>T	uc001zxe.1	-	18	3320	c.3186G>A	c.(3184-3186)GGG>GGA	p.G1062G	SECISBP2L_uc001zxd.1_Silent_p.G1017G	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1062										breast(1)|skin(1)	2						CACTGTCCATCCCTGGCTCCA	0.527000												
UNC13C	440279	broad.mit.edu	37	15	54307854	54307854	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:54307854A>G	uc002ack.2	+	1	2754	c.2754A>G	c.(2752-2754)CAA>CAG	p.Q918Q		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	918					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAACCCCACAAGATGAGGGTT	0.378000												
UNC13C	440279	broad.mit.edu	37	15	54435824	54435824	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:54435824T>C	uc002ack.2	+	3	3014	c.3014T>C	c.(3013-3015)ATA>ACA	p.I1005T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1005					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGGCTCGAATAGTAAGTGGC	0.388000												
THSD4	79875	broad.mit.edu	37	15	72037465	72037465	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:72037465C>T	uc002atb.1	+	11	2006	c.1927C>T	c.(1927-1929)CGC>TGC	p.R643C	THSD4_uc002ate.2_Missense_Mutation_p.R283C	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	643						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CCCTATTTTCCGCTGTGTGCA	0.542000												
AGBL1	123624	broad.mit.edu	37	15	86807985	86807985	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr15:86807985A>G	uc002blz.1	+	10	1525	c.1445A>G	c.(1444-1446)AAG>AGG	p.K482R	AGBL1_uc002bma.1_Missense_Mutation_p.K213R|AGBL1_uc002bmb.1_Missense_Mutation_p.K176R	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	482					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GTGGACTTCAAGATGATGGCA	0.502000												
SOX8	30812	broad.mit.edu	37	16	1034896	1034896	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:1034896A>C	uc002ckn.2	+	3	966	c.851A>C	c.(850-852)GAG>GCG	p.E284A		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	284					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				GACGTCCACGAGTTCGACCAG	0.701000												
GRIN2A	2903	broad.mit.edu	37	16	9923493	9923493	+	Silent	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:9923493A>C	uc002czo.3	-	9	2342	c.1794T>G	c.(1792-1794)TCT>TCG	p.S598S	GRIN2A_uc010uym.1_Silent_p.S598S|GRIN2A_uc010uyn.1_Silent_p.S441S|GRIN2A_uc002czr.3_Silent_p.S598S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	598	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S598F(1)		skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAATTGTAAAAGAAGGCCCAT	0.463000												
TMC5	79838	broad.mit.edu	37	16	19451929	19451929	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:19451929A>G	uc002dgc.3	+	3	1318	c.569A>G	c.(568-570)CAT>CGT	p.H190R	TMC5_uc010vaq.1_Missense_Mutation_p.H190R|TMC5_uc002dgb.3_Missense_Mutation_p.H190R|TMC5_uc010var.1_Missense_Mutation_p.H190R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	190	Extracellular (Potential).					integral to membrane				skin(1)	1						AATCTGGAACATACAAGTTTT	0.488000												
TMC5	79838	broad.mit.edu	37	16	19451957	19451957	+	Silent	SNP	A	A	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:19451957A>T	uc002dgc.3	+	3	1346	c.597A>T	c.(595-597)GCA>GCT	p.A199A	TMC5_uc010vaq.1_Silent_p.A199A|TMC5_uc002dgb.3_Silent_p.A199A|TMC5_uc010var.1_Silent_p.A199A	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	199	Extracellular (Potential).					integral to membrane				skin(1)	1						ATCCATACGCAGACTCTCTGG	0.473000												
DNAH3	55567	broad.mit.edu	37	16	20975134	20975134	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:20975134A>G	uc010vbe.1	-	53	10072	c.10072T>C	c.(10072-10074)TAC>CAC	p.Y3358H	DNAH3_uc010vbd.1_Missense_Mutation_p.Y793H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3358					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACGTTGTTGTAGATGCTCAGG	0.463000												
ABCC12	94160	broad.mit.edu	37	16	48174824	48174824	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:48174824A>C	uc002efc.1	-	4	777	c.431T>G	c.(430-432)CTC>CGC	p.L144R	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.L144R|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	144	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TTGGTGAATGAGAACTGTCTG	0.522000												
CNTNAP4	85445	broad.mit.edu	37	16	76523743	76523743	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:76523743T>G	uc002feu.1	+	15	2428	c.2043T>G	c.(2041-2043)ACT>ACG	p.T681T	CNTNAP4_uc002fev.1_Silent_p.T545T|CNTNAP4_uc010chb.1_Silent_p.T608T|CNTNAP4_uc002fex.1_Silent_p.T684T|CNTNAP4_uc002few.2_Silent_p.T656T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	681	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AGGAGTTTACTTATTACTGCA	0.458000												
ADAMTS18	170692	broad.mit.edu	37	16	77397765	77397765	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:77397765T>G	uc002ffc.3	-	6	1409	c.990A>C	c.(988-990)AAA>AAC	p.K330N	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K26N|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	330	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TAGTCCCATCTTTAAATAGGC	0.373000												
SPIRE2	84501	broad.mit.edu	37	16	89922632	89922632	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr16:89922632T>G	uc002foz.1	+	7	1142	c.1090T>G	c.(1090-1092)TGG>GGG	p.W364G	SPIRE2_uc010civ.1_Missense_Mutation_p.W279G|SPIRE2_uc010ciw.1_Missense_Mutation_p.W364G|SPIRE2_uc002fpa.1_Missense_Mutation_p.W316G|SPIRE2_uc010cix.1_Missense_Mutation_p.W231G	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	364					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGGCGAGGGCTGGGCTGCCCG	0.672000												
SMTNL2	342527	broad.mit.edu	37	17	4497135	4497135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:4497135C>T	uc002fyf.1	+	4	816	c.749C>T	c.(748-750)ACG>ATG	p.T250M	SMTNL2_uc002fye.2_Missense_Mutation_p.T106M	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	250											0				READ - Rectum adenocarcinoma(115;0.0325)		TCCTCTTTCACGTGGTCTGTG	0.597000												
CCDC42	146849	broad.mit.edu	37	17	8644934	8644934	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:8644934A>G	uc002gln.2	-	4	577	c.350T>C	c.(349-351)CTC>CCC	p.L117P	CCDC42_uc002glo.2_Missense_Mutation_p.L117P	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	117	Potential.									ovary(1)	1						CTGGCACTTGAGTTCTCGCTC	0.637000												
GLP2R	9340	broad.mit.edu	37	17	9739737	9739737	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:9739737T>G	uc002gmd.1	+	3	327	c.327T>G	c.(325-327)TCT>TCG	p.S109S	GLP2R_uc010cog.1_RNA	NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	109	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GGCCTCATTCTTCTCCTGGAA	0.418000												
MYH3	4621	broad.mit.edu	37	17	10542945	10542945	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:10542945T>C	uc002gmq.1	-	22	2934	c.2857A>G	c.(2857-2859)AAA>GAA	p.K953E		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	953	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCAATGTCTTTCTTGAGCTCT	0.473000												
PMP22	5376	broad.mit.edu	37	17	15142792	15142792	+	Silent	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:15142792A>C	uc002goj.2	-	3	364	c.315T>G	c.(313-315)CTT>CTG	p.L105L	PMP22_uc002gok.2_Silent_p.L105L|PMP22_uc002gol.2_Silent_p.L105L	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	105	Helical; (By similarity).		L -> R (in CMT1A and DSS).		peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		ACTTACCAGCAAGAATTTGGA	0.473000												
AARSD1	80755	broad.mit.edu	37	17	41122335	41122335	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:41122335T>A	uc002icf.2	-	7	750	c.532A>T	c.(532-534)AGA>TGA	p.R178*	AARSD1_uc002icd.2_Nonsense_Mutation_p.R117*|AARSD1_uc002ice.2_Nonsense_Mutation_p.R87*|AARSD1_uc010whg.1_Nonsense_Mutation_p.R178*|AARSD1_uc002icg.2_RNA|AARSD1_uc002ich.2_Nonsense_Mutation_p.R140*|AARSD1_uc010whh.1_Nonsense_Mutation_p.R145*	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	Error:Variant_position_missing_in_Q9BTE6_after_alignment					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GGTGGAGGTCTCTTGGTGCTG	0.443000												
KIF2B	84643	broad.mit.edu	37	17	51902400	51902400	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:51902400A>G	uc002iua.2	+	1	2162	c.2006A>G	c.(2005-2007)AAG>AGG	p.K669R	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	669					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CTCCACGTGAAGAGCAAGGTA	0.438000												
C17orf71	55181	broad.mit.edu	37	17	57290673	57290673	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr17:57290673C>T	uc002ixi.2	+	3	2531	c.2489C>T	c.(2488-2490)GCG>GTG	p.A830V		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	830					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGAGAAGTGCGGTTGTAATG	0.478000												
EPB41L3	23136	broad.mit.edu	37	18	5406839	5406839	+	Silent	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:5406839G>A	uc002kmt.1	-	16	2372	c.2286C>T	c.(2284-2286)TCC>TCT	p.S762S	EPB41L3_uc010wzh.1_Silent_p.S593S|EPB41L3_uc002kmu.1_Silent_p.S581S|EPB41L3_uc010dkq.1_Silent_p.S472S|EPB41L3_uc002kms.1_Silent_p.S34S|EPB41L3_uc010wze.1_Silent_p.S34S|EPB41L3_uc010wzf.1_Silent_p.S34S|EPB41L3_uc010wzg.1_Silent_p.S34S|EPB41L3_uc010dkr.2_Silent_p.S154S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	762	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTCGCACGGGGGAGGTGGAAA	0.512000												
L3MBTL4	91133	broad.mit.edu	37	18	5969416	5969416	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:5969416T>C	uc002kmz.3	-	18	1777	c.1617A>G	c.(1615-1617)CAA>CAG	p.Q539Q	L3MBTL4_uc010dkt.2_Silent_p.Q539Q|L3MBTL4_uc002kmy.3_Silent_p.Q368Q	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	539					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				AACGTGCCACTTGGCTGGCCC	0.637000												
ARHGAP28	79822	broad.mit.edu	37	18	6870702	6870702	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:6870702G>A	uc010wzi.1	+	6	632	c.394G>A	c.(394-396)GAG>AAG	p.E132K	ARHGAP28_uc002knc.2_Missense_Mutation_p.E257K|ARHGAP28_uc002knd.2_Missense_Mutation_p.E150K|ARHGAP28_uc002kne.2_Missense_Mutation_p.E150K|ARHGAP28_uc002knf.2_Missense_Mutation_p.E141K			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	132					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				TAAGAAATCAGAGATTAAGAA	0.338000												
LAMA3	3909	broad.mit.edu	37	18	21526174	21526174	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:21526174A>C	uc002kuq.2	+	70	9363	c.9277A>C	c.(9277-9279)AGT>CGT	p.S3093R	LAMA3_uc002kur.2_Missense_Mutation_p.S3037R|LAMA3_uc002kus.3_Missense_Mutation_p.S1484R|LAMA3_uc002kut.3_Missense_Mutation_p.S1428R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3093	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGGGAGGGAAGTTTGCCTGG	0.502000												
SETBP1	26040	broad.mit.edu	37	18	42281639	42281639	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:42281639A>G	uc010dni.2	+	2	624	c.328A>G	c.(328-330)ACA>GCA	p.T110A	SETBP1_uc002lay.2_Missense_Mutation_p.T110A	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	110						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATTCAGACCACAAAGCGGGC	0.473000									Schinzel-Giedion_syndrome			
SERPINB3	6317	broad.mit.edu	37	18	61322928	61322928	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:61322928T>G	uc002lji.2	-	8	1280	c.1136A>C	c.(1135-1137)AAC>ACC	p.N379T	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.N327T	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	379					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAGGATGCTGTTGGTCTTATT	0.418000												
CBLN2	147381	broad.mit.edu	37	18	70205481	70205481	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:70205481A>G	uc002lku.2	-	4	840	c.605T>C	c.(604-606)CTT>CCT	p.L202P	CBLN2_uc002lkv.2_Missense_Mutation_p.L202P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	202	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				GCCTCTCTCAAGTTTGAGATG	0.527000												
ZNF236	7776	broad.mit.edu	37	18	74616428	74616428	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:74616428T>C	uc002lmi.2	+	12	2179	c.1981T>C	c.(1981-1983)TAC>CAC	p.Y661H	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	661	C2H2-type 14.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTGTTTTTACTGTCATCG	0.338000												
MUC16	94025	broad.mit.edu	37	19	9058642	9058642	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:9058642T>C	uc002mkp.2	-	3	29008	c.28804A>G	c.(28804-28806)ACT>GCT	p.T9602A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9604	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TAAAGGACAGTGCTTGTCTCT	0.527000												
MUC16	94025	broad.mit.edu	37	19	9075479	9075479	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:9075479T>G	uc002mkp.2	-	3	12171	c.11967A>C	c.(11965-11967)CAA>CAC	p.Q3989H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3991	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AAACTATTGCTTGTTCCCTGG	0.488000												
MUC16	94025	broad.mit.edu	37	19	9075509	9075509	+	Silent	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:9075509A>C	uc002mkp.2	-	3	12141	c.11937T>G	c.(11935-11937)TCT>TCG	p.S3979S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3981	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TAACCACTGGAGATGTGAGTT	0.483000												
MUC16	94025	broad.mit.edu	37	19	9083248	9083248	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:9083248T>C	uc002mkp.2	-	1	8771	c.8567A>G	c.(8566-8568)GAG>GGG	p.E2856G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2856	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGGCCTGACTCAGCACTGGT	0.547000												
EMR2	30817	broad.mit.edu	37	19	14875404	14875404	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:14875404C>T	uc002mzp.1	-	11	1381	c.925G>A	c.(925-927)GAT>AAT	p.D309N	EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Missense_Mutation_p.D309N|EMR2_uc002mzo.1_Missense_Mutation_p.D309N|EMR2_uc002mzq.1_Missense_Mutation_p.D260N|EMR2_uc002mzr.1_Missense_Mutation_p.D260N|EMR2_uc002mzs.1_Missense_Mutation_p.D167N|EMR2_uc002mzt.1_Missense_Mutation_p.D216N|EMR2_uc002mzu.1_Missense_Mutation_p.D216N|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	309	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						AGCAGCTCATCCAGCGCCTGT	0.632000												
UPK1A	11045	broad.mit.edu	37	19	36164136	36164136	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:36164136C>A	uc002oaw.2	+	3	288	c.288C>A	c.(286-288)TAC>TAA	p.Y96*	UPK1A_uc010eeh.2_Nonsense_Mutation_p.Y96*|uc002oax.1_Intron	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	96	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCCCAGTACCTGGTGCTCA	0.602000												
ZNF793	390927	broad.mit.edu	37	19	38023304	38023304	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:38023304A>C	uc010efm.2	+	6	504	c.62A>C	c.(61-63)GAG>GCG	p.E21A	ZNF793_uc010xts.1_Missense_Mutation_p.E21A|ZNF793_uc010efo.2_Missense_Mutation_p.E21A	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCCAAGAGGAGTGGCACCGG	0.473000												
ZNF571	51276	broad.mit.edu	37	19	38057008	38057008	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:38057008T>C	uc002ogt.2	-	4	423	c.322A>G	c.(322-324)ATG>GTG	p.M108V	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.M108V	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGACACACATGTAAAGCCCT	0.398000												
BCAM	4059	broad.mit.edu	37	19	45322958	45322958	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:45322958C>T	uc002ozu.2	+	13	1782	c.1738C>T	c.(1738-1740)CGC>TGC	p.R580C	BCAM_uc002ozt.1_Missense_Mutation_p.R580C	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	580	Cytoplasmic (Potential).				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCCCTGCTGCCGCCAGCGGCG	0.537000												
ZNF665	79788	broad.mit.edu	37	19	53669150	53669150	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:53669150C>A	uc010eqm.1	-	4	693	c.593G>T	c.(592-594)AGA>ATA	p.R198I		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	133	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		AGTATGAATTCTCTTATGACT	0.388000												
ZNF813	126017	broad.mit.edu	37	19	53993839	53993839	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:53993839A>C	uc002qbu.2	+	4	481	c.353A>C	c.(352-354)AAG>ACG	p.K118T	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAAATCAAAAAGTTGACTGGT	0.393000												
LILRA2	11027	broad.mit.edu	37	19	55098681	55098681	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:55098681A>C	uc002qgg.3	+	8	1409	c.1320A>C	c.(1318-1320)CAA>CAC	p.Q440H	LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Missense_Mutation_p.Q423H|LILRA2_uc010ero.2_Missense_Mutation_p.Q411H|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	440	Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCCTAGGCCAACACCCCCAGG	0.587000												
NLRP13	126204	broad.mit.edu	37	19	56422095	56422095	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:56422095T>A	uc010ygg.1	-	6	2141	c.2116A>T	c.(2116-2118)AGC>TGC	p.S706C		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	706							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCAAACTTGCTTGTCCTTCAT	0.443000												
ZNF264	9422	broad.mit.edu	37	19	57723986	57723986	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:57723986A>G	uc002qob.2	+	4	1934	c.1521A>G	c.(1519-1521)GGA>GGG	p.G507G		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		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;0.0135)		TTCATAGTGGAGAGAAGCCCT	0.512000												
AURKC	6795	broad.mit.edu	37	19	57743421	57743421	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:57743421A>G	uc002qoe.2	+	3	314	c.125A>G	c.(124-126)GAC>GGC	p.D42G	AURKC_uc002qoc.2_Missense_Mutation_p.D23G|AURKC_uc002qod.2_Missense_Mutation_p.D8G|AURKC_uc010etv.2_Missense_Mutation_p.D39G	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	42					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)		ACAGTCGATGACTTTGAAATC	0.557000												
ZNF460	10794	broad.mit.edu	37	19	57802744	57802744	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:57802744C>T	uc002qog.2	+	3	1157	c.835C>T	c.(835-837)CCT>TCT	p.P279S	ZNF460_uc010ygv.1_Missense_Mutation_p.P238S	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGAGAGAAGCCTTTTGTGTG	0.498000												
ZNF211	10520	broad.mit.edu	37	19	58152347	58152347	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:58152347A>C	uc002qpq.2	+	3	673	c.493A>C	c.(493-495)AGT>CGT	p.S165R	ZNF211_uc010yhb.1_Missense_Mutation_p.S169R|ZNF211_uc002qpp.2_Missense_Mutation_p.S178R|ZNF211_uc002qpr.2_Missense_Mutation_p.S229R|ZNF211_uc002qps.2_Missense_Mutation_p.S230R|ZNF211_uc002qpt.2_Missense_Mutation_p.S177R|ZNF211_uc010yhc.1_Missense_Mutation_p.S177R|ZNF211_uc010yhd.1_Missense_Mutation_p.S104R|ZNF211_uc010yhe.1_Missense_Mutation_p.S156R	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCTTTCAGAAGTTATGTGGA	0.468000												
ZNF606	80095	broad.mit.edu	37	19	58491404	58491404	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:58491404A>G	uc002qqw.2	-	7	1262	c.644T>C	c.(643-645)CTT>CCT	p.L215P	ZNF606_uc010yhp.1_Missense_Mutation_p.L125P	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCTGCCCCAAGTCCACAGAA	0.413000												
ZNF329	79673	broad.mit.edu	37	19	58640334	58640334	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr19:58640334A>C	uc002qrn.2	-	4	774	c.537T>G	c.(535-537)AAT>AAG	p.N179K	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGTTCTCAAAATTCTTACCTT	0.353000												
SOCS5	9655	broad.mit.edu	37	2	46986226	46986226	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:46986226G>T	uc002rvf.2	+	2	721	c.557G>T	c.(556-558)GGC>GTC	p.G186V	SOCS5_uc010yoe.1_Missense_Mutation_p.G155V|SOCS5_uc002rvg.2_Missense_Mutation_p.G186V	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	186					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATACTGTGGGCTTGTGTTTT	0.453000												
FSHR	2492	broad.mit.edu	37	2	49191060	49191060	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:49191060T>G	uc002rww.2	-	10	974	c.900A>C	c.(898-900)GAA>GAC	p.E300D	FSHR_uc002rwx.2_Missense_Mutation_p.E238D|FSHR_uc010fbn.2_Missense_Mutation_p.E274D	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	300	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TATAATCAACTTCTTGCCTTA	0.388000									Gonadal_Dysgenesis_46_XX			
NRXN1	9378	broad.mit.edu	37	2	50779932	50779932	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:50779932A>C	uc010fbq.2	-	9	3149	c.1672T>G	c.(1672-1674)TTA>GTA	p.L558V	NRXN1_uc002rxb.3_Missense_Mutation_p.L190V|NRXN1_uc002rxe.3_Missense_Mutation_p.L518V|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGCTAAATAAGATGAGGCCA	0.433000												
AFTPH	54812	broad.mit.edu	37	2	64779733	64779733	+	Silent	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:64779733T>A	uc002sdc.2	+	1	1157	c.1125T>A	c.(1123-1125)ACT>ACA	p.T375T	AFTPH_uc002scz.2_Silent_p.T375T|AFTPH_uc002sda.2_Silent_p.T375T|AFTPH_uc002sdb.2_Silent_p.T375T	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	375					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CTGTTAAAACTTCTGATGATG	0.343000												
MEIS1	4211	broad.mit.edu	37	2	66796234	66796234	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:66796234C>T	uc002sdu.2	+	12	1624	c.1167C>T	c.(1165-1167)TAC>TAT	p.Y389Y	MEIS1_uc002sdt.2_3'UTR|MEIS1_uc002sdv.2_Intron|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Silent_p.Y324Y|MEIS1_uc002sdw.1_Silent_p.Y245Y	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	389	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity				0						AGTGGCACTACATGTAACCTT	0.433000												
SULT1C3	442038	broad.mit.edu	37	2	108872118	108872118	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:108872118T>G	uc010ywo.1	+	4	490	c.490T>G	c.(490-492)TTA>GTA	p.L164V		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	164						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						TCCTCAGAACTTAGAGGAATT	0.418000												
MYO7B	4648	broad.mit.edu	37	2	128366344	128366344	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:128366344G>A	uc002top.2	+	22	2758	c.2705G>A	c.(2704-2706)CGC>CAC	p.R902H		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	902						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCAAGAAGCGCAGATCCATC	0.657000												
ZRANB3	84083	broad.mit.edu	37	2	136023244	136023244	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:136023244C>G	uc002tum.2	-	12	1516	c.1399G>C	c.(1399-1401)GGG>CGG	p.G467R	ZRANB3_uc002tuk.2_Missense_Mutation_p.G10R|ZRANB3_uc002tul.2_Missense_Mutation_p.G467R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	467	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGTGTGCTCCCTGTAACTTGA	0.383000												
LRP1B	53353	broad.mit.edu	37	2	141200150	141200150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:141200150G>A	uc002tvj.1	-	66	11309	c.10337C>T	c.(10336-10338)ACG>ATG	p.T3446M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3446	Extracellular (Potential).|LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAATGCTTCGTAGTCTTACA	0.428000										TSP Lung(27;0.18)		
GTDC1	79712	broad.mit.edu	37	2	144764977	144764977	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:144764977T>G	uc002tvp.2	-	7	926	c.647A>C	c.(646-648)AAG>ACG	p.K216T	GTDC1_uc002tvo.2_Missense_Mutation_p.K216T|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.K216T|GTDC1_uc010fnn.2_Missense_Mutation_p.K216T|GTDC1_uc002tvs.2_Missense_Mutation_p.K184T|GTDC1_uc010fno.2_Missense_Mutation_p.K87T|GTDC1_uc002tvt.1_Missense_Mutation_p.K216T	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	216					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATTAAAATTCTTCAATAAATC	0.418000												
KCNJ3	3760	broad.mit.edu	37	2	155555450	155555450	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:155555450G>C	uc002tyv.1	+	1	358	c.163G>C	c.(163-165)GTA>CTA	p.V55L	KCNJ3_uc010zce.1_Missense_Mutation_p.V55L	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	55	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CCGGTGCAATGTACAGCACGG	0.627000												
SLC4A10	57282	broad.mit.edu	37	2	162815046	162815046	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:162815046C>T	uc002ubx.3	+	21	3027	c.2843C>T	c.(2842-2844)TCA>TTA	p.S948L	SLC4A10_uc002uby.3_Missense_Mutation_p.S918L|SLC4A10_uc010zcs.1_Missense_Mutation_p.S929L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	948	Helical; (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ATGGGTGCTTCATCTCTAAAG	0.368000												
SCN9A	6335	broad.mit.edu	37	2	167141153	167141153	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:167141153T>C	uc010fpl.2	-	12	2125	c.1784A>G	c.(1783-1785)CAG>CGG	p.Q595R	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.Q466R|SCN9A_uc002uds.1_Missense_Mutation_p.Q466R|SCN9A_uc002udt.1_Missense_Mutation_p.Q466R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	595						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCGTCGCTCCTGGGGTCTGTG	0.537000												
TTN	7273	broad.mit.edu	37	2	179485466	179485466	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:179485466T>G	uc010zfg.1	-	196	38391	c.38167A>C	c.(38167-38169)AGT>CGT	p.S12723R	TTN_uc010zfh.1_Missense_Mutation_p.S6418R|TTN_uc010zfi.1_Missense_Mutation_p.S6351R|TTN_uc010zfj.1_Missense_Mutation_p.S6226R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13650							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)			TTGGCTGCACTTTTAACATTT	0.313000												
TTN	7273	broad.mit.edu	37	2	179603061	179603061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:179603061C>T	uc010zfg.1	-	46	10611	c.10387G>A	c.(10387-10389)GAA>AAA	p.E3463K	TTN_uc010zfh.1_Missense_Mutation_p.E4536K|TTN_uc010zfi.1_Missense_Mutation_p.E4469K|TTN_uc010zfj.1_Missense_Mutation_p.E4344K|TTN_uc002umz.1_Missense_Mutation_p.E124K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4390							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)			TCCAGGGGTTCGATTTTCCTC	0.463000												
TTN	7273	broad.mit.edu	37	2	179615852	179615852	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:179615852T>A	uc002unb.2	-	46	11499	c.11275A>T	c.(11275-11277)AGT>TGT	p.S3759C	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)			ACCTTATAACTTTCAGCTAGA	0.358000												
ITGA4	3676	broad.mit.edu	37	2	182374426	182374426	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:182374426T>C	uc002unu.2	+	16	2500	c.1737T>C	c.(1735-1737)GCT>GCC	p.A579A	ITGA4_uc010frj.1_Silent_p.A61A	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	579	Extracellular (Potential).				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)	AGATTGAAGCTGCTTACCACC	0.383000												
ZSWIM2	151112	broad.mit.edu	37	2	187692958	187692958	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:187692958T>G	uc002upu.1	-	9	1695	c.1655A>C	c.(1654-1656)AAC>ACC	p.N552T		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	552					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGGTTGTGGTTATTACATTT	0.393000												
ERBB4	2066	broad.mit.edu	37	2	212248779	212248779	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:212248779A>G	uc002veg.1	-	28	3586	c.3488T>C	c.(3487-3489)CTG>CCG	p.L1163P	ERBB4_uc002veh.1_Missense_Mutation_p.L1147P|ERBB4_uc010zji.1_Missense_Mutation_p.L1153P|ERBB4_uc010zjj.1_Missense_Mutation_p.L1137P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1163	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACTGGATTCAGGTATTCTAA	0.373000										TSP Lung(8;0.080)		
ABCA12	26154	broad.mit.edu	37	2	215855595	215855595	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:215855595G>A	uc002vew.2	-	24	3675	c.3455C>T	c.(3454-3456)TCG>TTG	p.S1152L	ABCA12_uc002vev.2_Missense_Mutation_p.S834L|ABCA12_uc010zjn.1_Missense_Mutation_p.S79L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1152	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTGTAGTCCGAAAAATACAG	0.388000												
SPHKAP	80309	broad.mit.edu	37	2	228884001	228884001	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:228884001T>G	uc002vpq.2	-	7	1616	c.1569A>C	c.(1567-1569)CAA>CAC	p.Q523H	SPHKAP_uc002vpp.2_Missense_Mutation_p.Q523H|SPHKAP_uc010zlx.1_Missense_Mutation_p.Q523H	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	523						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCGAGACCACTTGCTCCATTT	0.512000												
SP140	11262	broad.mit.edu	37	2	231157373	231157373	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr2:231157373A>C	uc002vql.2	+	20	1953	c.1838A>C	c.(1837-1839)AAG>ACG	p.K613T	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.K499T|SP140_uc002vqm.2_Missense_Mutation_p.K553T|SP140_uc010fxl.2_Missense_Mutation_p.K586T	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	613	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATCTTGGTGAAGTGTATACAG	0.498000												
SPTLC3	55304	broad.mit.edu	37	20	13107335	13107335	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:13107335T>G	uc002wod.1	+	9	1539	c.1250T>G	c.(1249-1251)CTT>CGT	p.L417R		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	417					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	TCACTAAAACTTATCATGGGA	0.493000												
SEC23B	10483	broad.mit.edu	37	20	18505155	18505155	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:18505155G>C	uc002wqz.1	+	5	888	c.445G>C	c.(445-447)GAG>CAG	p.E149Q	SEC23B_uc002wra.1_Missense_Mutation_p.E149Q|SEC23B_uc002wrb.1_Missense_Mutation_p.E149Q|SEC23B_uc010zsb.1_Missense_Mutation_p.E131Q|SEC23B_uc002wrc.1_Missense_Mutation_p.E149Q	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	149					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						AGCACTCAAAGAGTCCCTGCA	0.502000												
XRN2	22803	broad.mit.edu	37	20	21312985	21312985	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:21312985C>T	uc002wsf.1	+	9	860	c.765C>T	c.(763-765)TTC>TTT	p.F255F	XRN2_uc002wsg.1_Silent_p.F179F|XRN2_uc010zsk.1_Silent_p.F201F	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	255					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GAGAAGAATTCAAACCAAACA	0.388000												
ENTPD6	955	broad.mit.edu	37	20	25187739	25187739	+	Silent	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:25187739A>C	uc002wuj.2	+	3	262	c.82A>C	c.(82-84)AGG>CGG	p.R28R	ENTPD6_uc010zsy.1_Silent_p.R28R|ENTPD6_uc010gdj.1_5'UTR|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Silent_p.R11R|ENTPD6_uc010zta.1_Silent_p.R28R|ENTPD6_uc002wun.2_Silent_p.R28R|ENTPD6_uc002wuk.2_Silent_p.R27R|ENTPD6_uc002wul.2_Silent_p.R27R|ENTPD6_uc010ztb.1_5'UTR|ENTPD6_uc010ztc.1_5'UTR|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	28	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0						TTGGCAAACAAGGATGAGAAA	0.582000												
DOK5	55816	broad.mit.edu	37	20	53171511	53171511	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:53171511A>G	uc002xwy.2	+	2	326	c.106A>G	c.(106-108)AGC>GGC	p.S36G	DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	36	PH.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			GAAAGCTTCAAGCAAAGGTCC	0.388000												
SAMSN1	64092	broad.mit.edu	37	21	15858379	15858379	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr21:15858379A>C	uc002yju.1	-	8	1058	c.976T>G	c.(976-978)TTA>GTA	p.L326V	SAMSN1_uc010gky.1_Missense_Mutation_p.L158V|SAMSN1_uc002yjv.1_Missense_Mutation_p.L394V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	326					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GACTTATTTAAGGAGATGTCT	0.408000												
TMPRSS15	5651	broad.mit.edu	37	21	19704431	19704431	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr21:19704431A>C	uc002ykw.2	-	14	1655	c.1624T>G	c.(1624-1626)TTT>GTT	p.F542V		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	542	Extracellular (Potential).|CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CTGTTTGGAAAGTTCGTAGAA	0.423000												
PRDM15	63977	broad.mit.edu	37	21	43221454	43221454	+	Silent	SNP	C	C	T	rs142036110	byFrequency	TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr21:43221454C>T	uc002yzq.1	-	31	4581	c.4470G>A	c.(4468-4470)GCG>GCA	p.A1490A	PRDM15_uc002yzo.2_Silent_p.A1161A|PRDM15_uc002yzp.2_Silent_p.A1181A|PRDM15_uc002yzr.1_Silent_p.A1181A	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGGCTGGGCCGCCTGCTGTG	0.667000												
CACNG2	10369	broad.mit.edu	37	22	36960743	36960743	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr22:36960743C>T	uc003aps.1	-	4	909	c.627G>A	c.(625-627)CGG>CGA	p.R209R		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	209					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0						GGGCCGTGGCCCGCAGCTGTT	0.672000												
C3orf20	84077	broad.mit.edu	37	3	14803068	14803068	+	Missense_Mutation	SNP	G	G	A	rs140063791	byFrequency	TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:14803068G>A	uc003byy.2	+	15	2845	c.2441G>A	c.(2440-2442)CGG>CAG	p.R814Q	C3orf20_uc003byz.2_Missense_Mutation_p.R692Q|C3orf20_uc003bza.2_Missense_Mutation_p.R692Q|C3orf20_uc003bzb.1_Missense_Mutation_p.R315Q|C3orf20_uc011avj.1_Missense_Mutation_p.R141Q	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	814						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						CAGATCTTCCGGTCTCAACAG	0.502000												
SH3BP5	9467	broad.mit.edu	37	3	15300337	15300337	+	Splice_Site	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:15300337C>T	uc003bzp.1	-	7	1078	c.889_splice	c.e7+1	p.V297_splice	SH3BP5_uc010hem.1_Splice_Site|SH3BP5_uc003bzq.1_Splice_Site_p.V140_splice|SH3BP5_uc003bzr.1_Splice_Site_p.V140_splice|uc003bzo.1_RNA	NM_004844	NP_004835	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)						intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding				0						CCCTGACTTACCAGAAATGGC	0.557000												
ZCWPW2	152098	broad.mit.edu	37	3	28566074	28566074	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:28566074A>G	uc003ceh.2	+	10	1134	c.966A>G	c.(964-966)GAA>GAG	p.E322E	ZCWPW2_uc003cei.2_Silent_p.E322E|ZCWPW2_uc010hfo.2_Silent_p.E127E	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	322							zinc ion binding			ovary(2)	2						ACCACTATGAAGAGGACTATC	0.333000												
ACVR2B	93	broad.mit.edu	37	3	38524780	38524780	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:38524780C>T	uc003cif.2	+	11	1520	c.1496C>T	c.(1495-1497)TCT>TTT	p.S499F	ACVR2B_uc003cig.2_Missense_Mutation_p.S290F	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	499	Cytoplasmic (Potential).				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CTGGTGACCTCTGTCACCAAT	0.552000												
CNTN3	5067	broad.mit.edu	37	3	74350898	74350898	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:74350898T>C	uc003dpm.1	-	14	1925	c.1845A>G	c.(1843-1845)CAA>CAG	p.Q615Q		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	615	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCAAGAGAGTTGGGCTGTTG	0.453000												
EPHA6	285220	broad.mit.edu	37	3	96706694	96706694	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:96706694T>A	uc010how.1	+	3	1014	c.971T>A	c.(970-972)GTT>GAT	p.V324D	EPHA6_uc003drp.1_Missense_Mutation_p.V324D	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	229	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TCCTCTTTGGTTGAAGTACGG	0.478000												
OR5H15	403274	broad.mit.edu	37	3	97887637	97887637	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:97887637T>G	uc011bgu.1	+	1	94	c.94T>G	c.(94-96)TTG>GTG	p.L32V		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTGGCATTCTTGGTAATATA	0.418000												
ZBED2	79413	broad.mit.edu	37	3	111312683	111312683	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:111312683C>T	uc003dxy.2	-	2	1251	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	122							DNA binding|metal ion binding			skin(1)	1						GCCTTGGATCCTGGCGCTGCC	0.627000												
SLCO2A1	6578	broad.mit.edu	37	3	133748643	133748643	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:133748643C>T	uc003eqa.3	-	1	278	c.4G>A	c.(4-6)GGG>AGG	p.G2R	SLCO2A1_uc003eqb.3_Missense_Mutation_p.G2R|SLCO2A1_uc011blv.1_Missense_Mutation_p.G2R|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	2	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						GGCAGGAGCCCCATGGCTGCG	0.766000												
SLITRK3	22865	broad.mit.edu	37	3	164905856	164905856	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:164905856T>C	uc003fej.3	-	2	3207	c.2763A>G	c.(2761-2763)CAA>CAG	p.Q921Q	SLITRK3_uc003fek.2_Silent_p.Q921Q	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	921	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						AGTCTGGGTATTGCATGCCAG	0.527000										HNSCC(40;0.11)		
OSTN	344901	broad.mit.edu	37	3	190936627	190936627	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:190936627T>G	uc011bsn.1	+	2	194	c.194T>G	c.(193-195)CTT>CGT	p.L65R		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	65					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)|skin(1)	2	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CTCTTGCTTCTTGATGAATTG	0.458000												
CCDC50	152137	broad.mit.edu	37	3	191074885	191074885	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:191074885G>C	uc003fsw.2	+	2	648	c.58G>C	c.(58-60)GAT>CAT	p.D20H	CCDC50_uc003fsv.2_Missense_Mutation_p.D20H	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	20						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGTATGCCGAGATTTTGCTGT	0.378000												
EVC2	132884	broad.mit.edu	37	4	5696169	5696169	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:5696169T>C	uc003gij.2	-	3	397	c.343A>G	c.(343-345)ACT>GCT	p.T115A	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.T35A	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	115						integral to membrane				large_intestine(3)|ovary(2)	5						GCTGCAGAAGTTGAGAGTGGG	0.418000												
ODAM	54959	broad.mit.edu	37	4	71068595	71068595	+	Silent	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:71068595T>A	uc003hfc.2	+	9	788	c.771T>A	c.(769-771)GCT>GCA	p.A257A		NM_017855	NP_060325	A1E959	ODAM_HUMAN	odontogenic ameloblast-associated protein	257					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				ovary(3)|large_intestine(1)	4						TCACTTCTGCTGTAGACCAAA	0.378000												
IBSP	3381	broad.mit.edu	37	4	88732666	88732666	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:88732666A>G	uc003hqx.3	+	7	656	c.558A>G	c.(556-558)GCA>GCG	p.A186A		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	186					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GCACAGAGGCAGAAAACGGCA	0.403000												
PPM1K	152926	broad.mit.edu	37	4	89198370	89198370	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:89198370A>C	uc003hrm.3	-	3	856	c.466T>G	c.(466-468)TTG>GTG	p.L156V	PPM1K_uc010ikp.1_Missense_Mutation_p.L156V|PPM1K_uc003hrn.2_Missense_Mutation_p.L156V	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	156	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AGAGTTTCCAAGTTCTTCTCC	0.398000												
USP38	84640	broad.mit.edu	37	4	144134809	144134809	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:144134809T>G	uc003ijb.2	+	9	2214	c.1680T>G	c.(1678-1680)ACT>ACG	p.T560T	USP38_uc003ija.3_Silent_p.T560T|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	560					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GCAGTGAAACTTCTTTACAGG	0.403000												
FBXW7	55294	broad.mit.edu	37	4	153251934	153251934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:153251934G>A	uc003ims.2	-	7	1221	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	FBXW7_uc011cii.1_Nonsense_Mutation_p.Q358*|FBXW7_uc003imt.2_Nonsense_Mutation_p.Q358*|FBXW7_uc011cih.1_Nonsense_Mutation_p.Q182*|FBXW7_uc003imq.2_Nonsense_Mutation_p.Q278*|FBXW7_uc003imr.2_Nonsense_Mutation_p.Q240*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	358					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATTCTGTGCTGTCTGATGTAT	0.393000			Mis|N|D|F		colorectal|endometrial|T-ALL							
RBM46	166863	broad.mit.edu	37	4	155719399	155719399	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:155719399T>C	uc003ioo.2	+	3	761	c.588T>C	c.(586-588)GCT>GCC	p.A196A	RBM46_uc011cim.1_Silent_p.A196A|RBM46_uc003iop.1_Silent_p.A196A	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	196	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				CTCACAGAGCTGCTGCTATGG	0.358000												
TLL1	7092	broad.mit.edu	37	4	166999084	166999084	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr4:166999084A>C	uc003irh.1	+	18	2991	c.2344A>C	c.(2344-2346)AGT>CGT	p.S782R	TLL1_uc011cjn.1_Missense_Mutation_p.S805R|TLL1_uc011cjo.1_Missense_Mutation_p.S606R	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	782	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCACAGTCCAAGTGGCCTCAT	0.507000												
TPPP	11076	broad.mit.edu	37	5	665397	665397	+	Silent	SNP	C	C	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:665397C>A	uc003jbg.3	-	3	1198	c.480G>T	c.(478-480)TCG>TCT	p.S160S	TPPP_uc003jbh.3_Silent_p.S160S	NM_007030	NP_008961	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	160					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding				0		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		ACACTGTGGGCGACGAGATGG	0.642000												
CTNND2	1501	broad.mit.edu	37	5	11364952	11364952	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:11364952A>G	uc003jfa.1	-	8	1373	c.1228T>C	c.(1228-1230)TTG>CTG	p.L410L	CTNND2_uc010itt.2_Silent_p.L319L|CTNND2_uc011cmy.1_Silent_p.L73L|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	410	ARM 1.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						AGGGCCCGCAACTCTGGGCCC	0.572000												
DNAH5	1767	broad.mit.edu	37	5	13717530	13717530	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:13717530T>C	uc003jfd.2	-	73	12641	c.12599A>G	c.(12598-12600)AAG>AGG	p.K4200R	DNAH5_uc003jfc.2_Missense_Mutation_p.K368R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K4200T(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGCACCGAACTTGCGCCTCTC	0.552000									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13751329	13751329	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:13751329A>C	uc003jfd.2	-	65	11111	c.11069T>G	c.(11068-11070)TTT>TGT	p.F3690C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3690	AAA 5 (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)					GTAGAGTCTAAAGCCATCCAA	0.368000									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13824402	13824402	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:13824402A>C	uc003jfd.2	-	39	6527	c.6485T>G	c.(6484-6486)CTT>CGT	p.L2162R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2162	AAA 1 (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)					CAAGGTCCGAAGAACTGACAG	0.418000									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13864531	13864531	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:13864531A>C	uc003jfd.2	-	28	4613	c.4571T>G	c.(4570-4572)CTT>CGT	p.L1524R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1524	Stem (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)					ATATTTCAGAAGAGGTGCCTC	0.398000									Kartagener_syndrome			
ADAMTS12	81792	broad.mit.edu	37	5	33616122	33616122	+	Missense_Mutation	SNP	T	T	G	rs145853154		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:33616122T>G	uc003jia.1	-	15	2362	c.2199A>C	c.(2197-2199)GAA>GAC	p.E733D	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E648D	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	733	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CTCCCTCAATTTCCATCACTC	0.443000										HNSCC(64;0.19)		
RXFP3	51289	broad.mit.edu	37	5	33937101	33937101	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:33937101G>A	uc003jic.1	+	1	613	c.256G>A	c.(256-258)GTG>ATG	p.V86M		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	86	Helical; Name=1; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						TCTCATCAGCGTGGTGTACTG	0.677000												
PLCXD3	345557	broad.mit.edu	37	5	41382380	41382380	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:41382380T>G	uc003jmm.1	-	2	462	c.360A>C	c.(358-360)AAA>AAC	p.K120N		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	120	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						CTTCATTGACTTTGGCACTGA	0.433000												
PLCXD3	345557	broad.mit.edu	37	5	41382435	41382435	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:41382435T>C	uc003jmm.1	-	2	407	c.305A>G	c.(304-306)AAG>AGG	p.K102R		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	102	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						GTCTCTGGGCTTGGTGGAAAT	0.448000												
HCN1	348980	broad.mit.edu	37	5	45645680	45645680	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:45645680C>T	uc003jok.2	-	2	481	c.456G>A	c.(454-456)ATG>ATA	p.M152I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	152	Helical; Name=Segment S1; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTCCAACCATCATTATAAGCA	0.318000												
EMB	133418	broad.mit.edu	37	5	49701604	49701604	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:49701604A>C	uc003jom.2	-	5	804	c.555T>G	c.(553-555)TGT>TGG	p.C185W	EMB_uc010ivq.2_5'Flank|EMB_uc003jol.2_Missense_Mutation_p.C116W|EMB_uc011cpy.1_Missense_Mutation_p.C135W|EMB_uc010ivr.2_Missense_Mutation_p.C131W	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin precursor	185	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTAAAGGAAAACAATTTTGAC	0.338000												
ANKRD55	79722	broad.mit.edu	37	5	55412549	55412549	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:55412549C>T	uc003jqu.2	-	9	1010	c.858G>A	c.(856-858)GAG>GAA	p.E286E	ANKRD55_uc003jqt.2_5'UTR	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	285	ANK 8.									skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CCATTCCCAACTCCAGCAGTG	0.582000												
GPR98	84059	broad.mit.edu	37	5	89949308	89949308	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:89949308G>C	uc003kju.2	+	20	4013	c.3917G>C	c.(3916-3918)GGA>GCA	p.G1306A	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1306	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACTGGTTGGAATTTTCCCC	0.498000												
GPR98	84059	broad.mit.edu	37	5	89990466	89990466	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:89990466T>C	uc003kju.2	+	33	7989	c.7893T>C	c.(7891-7893)GCT>GCC	p.A2631A	GPR98_uc003kjt.2_Silent_p.A337A|GPR98_uc003kjv.2_Silent_p.A231A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2631	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGGAACAGCTACTGAAGGTT	0.483000												
GPR98	84059	broad.mit.edu	37	5	90079735	90079735	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:90079735T>C	uc003kju.2	+	67	13610	c.13514T>C	c.(13513-13515)ATC>ACC	p.I4505T	GPR98_uc003kjt.2_Missense_Mutation_p.I2211T|GPR98_uc003kjw.2_Missense_Mutation_p.I166T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4505	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGAGCAGAATCATAATAGCT	0.433000												
SEMA6A	57556	broad.mit.edu	37	5	115783129	115783129	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:115783129G>A	uc010jck.2	-	19	2982	c.2273C>T	c.(2272-2274)CCA>CTA	p.P758L	SEMA6A_uc003krx.3_Missense_Mutation_p.P775L|SEMA6A_uc011cwe.1_Missense_Mutation_p.P137L|SEMA6A_uc003krv.3_Missense_Mutation_p.P185L|SEMA6A_uc003krw.3_Missense_Mutation_p.P235L|SEMA6A_uc010jcj.2_Missense_Mutation_p.P302L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	758	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGTTGACTCTGGGGTGGGGAG	0.622000												
FAM170A	340069	broad.mit.edu	37	5	118969843	118969843	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:118969843C>A	uc003ksm.2	+	3	610	c.400C>A	c.(400-402)CAA>AAA	p.Q134K	FAM170A_uc003ksl.2_Missense_Mutation_p.Q134K|FAM170A_uc003ksn.2_Missense_Mutation_p.Q134K|FAM170A_uc003kso.2_Missense_Mutation_p.Q87K	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	134						intracellular	zinc ion binding			skin(1)	1						CATGCAGGTACAAATGAACAA	0.443000												
SNCAIP	9627	broad.mit.edu	37	5	121786608	121786608	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:121786608A>C	uc003ksw.1	+	10	2272	c.2066A>C	c.(2065-2067)AAG>ACG	p.K689T	SNCAIP_uc011cwl.1_Missense_Mutation_p.K247T|SNCAIP_uc003ksx.1_Missense_Mutation_p.K736T|SNCAIP_uc003ksy.1_Missense_Mutation_p.K323T|SNCAIP_uc003ksz.1_Missense_Mutation_p.K323T|SNCAIP_uc010jcu.2_Missense_Mutation_p.K285T|SNCAIP_uc011cwm.1_Missense_Mutation_p.K323T|SNCAIP_uc003kta.1_Missense_Mutation_p.K321T|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.K383T|SNCAIP_uc010jcx.1_Missense_Mutation_p.K629T|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.K205T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	689					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAGGACCCCAAGACTACCCCA	0.542000												
HARS	3035	broad.mit.edu	37	5	140054668	140054668	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140054668A>G	uc003lgv.2	-	11	1327	c.1245T>C	c.(1243-1245)TCT>TCC	p.S415S	DND1_uc003lgt.2_5'Flank|HARS_uc003lgu.2_Silent_p.S346S|HARS_uc011czm.1_Silent_p.S375S|HARS_uc003lgw.2_Silent_p.S395S|HARS_uc011czn.1_Silent_p.S355S|HARS_uc010jfu.2_Intron|HARS_uc011czo.1_Silent_p.S341S|HARS_uc011czp.1_Silent_p.S301S	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	415					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TCTTCTGTGCAGATGCCACAA	0.537000												
PCDHA7	56141	broad.mit.edu	37	5	140216285	140216285	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140216285A>C	uc003lhq.2	+	1	2317	c.2317A>C	c.(2317-2319)AGT>CGT	p.S773R	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_uc011dac.1_Missense_Mutation_p.S773R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	773	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGGCCTTCAGTCCCAGCCT	0.522000												
PCDHB3	56132	broad.mit.edu	37	5	140481107	140481107	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140481107T>G	uc003lio.2	+	1	874	c.874T>G	c.(874-876)TTT>GTT	p.F292V	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	292	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCAAAACTTTTCAGCTAAA	0.383000												
PCDHB7	56129	broad.mit.edu	37	5	140554081	140554081	+	Silent	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140554081C>T	uc003lit.2	+	1	1839	c.1665C>T	c.(1663-1665)AAC>AAT	p.N555N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	555	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.726000												
SLC25A2	83884	broad.mit.edu	37	5	140683221	140683221	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:140683221A>C	uc003ljf.2	-	1	392	c.212T>G	c.(211-213)CTT>CGT	p.L71R		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	71	Helical; Name=2; (Potential).|Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GTAGGCCATAAGTGCCGGGCC	0.582000												
CNOT8	9337	broad.mit.edu	37	5	154251334	154251334	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:154251334G>A	uc003lvu.2	+	6	997	c.518G>A	c.(517-519)CGT>CAT	p.R173H	CNOT8_uc011ddf.1_Missense_Mutation_p.R67H|CNOT8_uc011ddg.1_Missense_Mutation_p.R67H|CNOT8_uc011ddh.1_Missense_Mutation_p.R9H|CNOT8_uc003lvv.2_Missense_Mutation_p.R173H|CNOT8_uc010jig.2_Missense_Mutation_p.R67H|CNOT8_uc010jif.2_Missense_Mutation_p.R67H|CNOT8_uc003lvw.2_Missense_Mutation_p.R173H|CNOT8_uc011ddi.1_Missense_Mutation_p.R67H|CNOT8_uc011ddj.1_Missense_Mutation_p.R119H	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	173					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGATTCTCGTTTGCCAGAA	0.378000								Direct_reversal_of_damage				
CYFIP2	26999	broad.mit.edu	37	5	156786056	156786056	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:156786056A>C	uc003lwq.2	+	26	2855	c.2717A>C	c.(2716-2718)AAT>ACT	p.N906T	CYFIP2_uc011ddn.1_Missense_Mutation_p.N880T|CYFIP2_uc011ddo.1_Missense_Mutation_p.N710T|CYFIP2_uc003lwr.2_Missense_Mutation_p.N906T|CYFIP2_uc003lws.2_Missense_Mutation_p.N906T|CYFIP2_uc003lwt.2_Missense_Mutation_p.N809T|CYFIP2_uc011ddp.1_Missense_Mutation_p.N640T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	931					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTACAGGAATTTCGTGGGG	0.493000												
C1QTNF2	114898	broad.mit.edu	37	5	159776372	159776372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr5:159776372G>A	uc003lyd.2	-	3	800	c.796C>T	c.(796-798)CGG>TGG	p.R266W		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	221	C1q.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAAAGGTCCGGATGCGGTAC	0.597000												
FAM8A1	51439	broad.mit.edu	37	6	17600920	17600920	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:17600920G>A	uc003ncc.2	+	1	403	c.280G>A	c.(280-282)GAG>AAG	p.E94K		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	94						integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GGCGGGCTGCGAGGCGCCCGA	0.731000												
NUP153	9972	broad.mit.edu	37	6	17629488	17629488	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:17629488A>C	uc003ncd.1	-	18	3142	c.2942T>G	c.(2941-2943)TTT>TGT	p.F981C	NUP153_uc011dje.1_Missense_Mutation_p.F1012C|NUP153_uc010jpl.1_Missense_Mutation_p.F939C	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	981					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCCAAACTTAAAATTATCATT	0.323000												
RXRB	6257	broad.mit.edu	37	6	33166234	33166234	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:33166234G>C	uc003odb.2	-	3	670	c.491C>G	c.(490-492)TCA>TGA	p.S164*	RXRB_uc003odc.2_Nonsense_Mutation_p.S164*|RXRB_uc003odd.2_Nonsense_Mutation_p.S68*|RXRB_uc011dqr.1_Intron|RXRB_uc011dqs.1_Intron|RXRB_uc003ode.1_Nonsense_Mutation_p.S28*|RXRB_uc011dqt.1_Nonsense_Mutation_p.S164*|RXRB_uc011dqu.1_Nonsense_Mutation_p.S68*|SLC39A7_uc003odf.2_5'Flank|SLC39A7_uc003odg.2_5'Flank|SLC39A7_uc011dqv.1_5'Flank	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	164	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGACACTGTTGAGTTAATCTG	0.547000												
PKHD1	5314	broad.mit.edu	37	6	51656136	51656136	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:51656136A>G	uc003pah.1	-	53	8614	c.8338T>C	c.(8338-8340)TTC>CTC	p.F2780L	PKHD1_uc010jzn.1_Missense_Mutation_p.F763L|PKHD1_uc003pai.2_Missense_Mutation_p.F2780L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2780	G8 2.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AGCCCTTTGAAGAATGGAAGA	0.448000												
TINAG	27283	broad.mit.edu	37	6	54212312	54212312	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:54212312G>A	uc003pcj.2	+	6	1042	c.896G>A	c.(895-897)CGT>CAT	p.R299H	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	299					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R299C(1)		ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTGAGAAAACGTGGGTAAATA	0.398000												
COL21A1	81578	broad.mit.edu	37	6	55990378	55990378	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:55990378A>G	uc003pcs.2	-	14	1869	c.1637T>C	c.(1636-1638)TTT>TCT	p.F546S	COL21A1_uc010jzz.2_5'Flank|COL21A1_uc011dxg.1_5'Flank|COL21A1_uc011dxh.1_5'Flank|COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.F546S|COL21A1_uc003pcu.1_Missense_Mutation_p.F543S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	546	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTGCCATAAAATCCAGGTGA	0.303000												
EYS	346007	broad.mit.edu	37	6	66094372	66094372	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:66094372T>A	uc011dxu.1	-	8	1744	c.1206A>T	c.(1204-1206)GAA>GAT	p.E402D	EYS_uc003peq.2_Missense_Mutation_p.E402D|EYS_uc003per.1_Missense_Mutation_p.E402D	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	402	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						CACAGTTTTTTTCAGTAAATC	0.294000												
COL19A1	1310	broad.mit.edu	37	6	70639447	70639447	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:70639447T>A	uc003pfc.1	+	6	638	c.521T>A	c.(520-522)CTT>CAT	p.L174H	COL19A1_uc010kam.1_Missense_Mutation_p.L70H	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	174	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TGGCACAAACTTGGCATTAGT	0.403000												
COL12A1	1303	broad.mit.edu	37	6	75811728	75811728	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:75811728A>G	uc003phs.2	-	57	8622	c.8456T>C	c.(8455-8457)CTT>CCT	p.L2819P	COL12A1_uc003pht.2_Missense_Mutation_p.L1655P	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2819	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TCGGCCTGGAAGTCCTGGCTC	0.463000												
TBX18	9096	broad.mit.edu	37	6	85466473	85466473	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:85466473T>G	uc003pkl.1	-	4	714	c.714A>C	c.(712-714)CAA>CAC	p.Q238H	TBX18_uc010kbq.1_Missense_Mutation_p.Q80H	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	238	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGCTGATAACTTGTCTCATCC	0.527000												
SLC35F1	222553	broad.mit.edu	37	6	118635388	118635388	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:118635388A>G	uc003pxx.3	+	8	1401	c.1200A>G	c.(1198-1200)GAA>GAG	p.E400E	SLC35F1_uc003pxy.1_Silent_p.E205E	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	400					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		AGGAGACCGAAGAGGAGCCTC	0.552000												
KIAA1244	57221	broad.mit.edu	37	6	138584055	138584055	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:138584055T>G	uc003qhu.2	+	12	1435	c.1435T>G	c.(1435-1437)TTC>GTC	p.F479V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	479					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGAGGCTGACTTCCGCTGGCA	0.587000												
CCDC28A	25901	broad.mit.edu	37	6	139094902	139094902	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:139094902T>G	uc003qie.2	+	1	246	c.91T>G	c.(91-93)TTC>GTC	p.F31V	uc003qid.1_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	31											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CTTACGTCACTTCCGTAAACA	0.632000												
SYNE1	23345	broad.mit.edu	37	6	152557432	152557432	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:152557432T>G	uc010kiw.2	-	110	20808	c.20206A>C	c.(20206-20208)AAA>CAA	p.K6736Q	SYNE1_uc010kiv.2_Missense_Mutation_p.K1260Q|SYNE1_uc003qos.3_Missense_Mutation_p.K1260Q|SYNE1_uc003qot.3_Missense_Mutation_p.K6665Q|SYNE1_uc003qou.3_Missense_Mutation_p.K6736Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6736	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTAGATTTTAAATGCTAA	0.313000										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152722378	152722378	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:152722378T>G	uc010kiw.2	-	47	7526	c.6924A>C	c.(6922-6924)CAA>CAC	p.Q2308H	SYNE1_uc003qot.3_Missense_Mutation_p.Q2315H|SYNE1_uc003qou.3_Missense_Mutation_p.Q2308H|SYNE1_uc010kjb.1_Missense_Mutation_p.Q2291H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2308	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTCTCCACTTGTGTACTTT	0.378000										HNSCC(10;0.0054)		
MYCT1	80177	broad.mit.edu	37	6	153019200	153019200	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:153019200A>G	uc003qpd.3	+	1	171	c.163A>G	c.(163-165)AGT>GGT	p.S55G	MYCT1_uc010kjc.1_Missense_Mutation_p.S55G|MYCT1_uc003qpc.3_Missense_Mutation_p.S55G	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	55						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TAACACAACAAGTTTAGGGAG	0.313000												
IGF2R	3482	broad.mit.edu	37	6	160445719	160445719	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:160445719A>T	uc003qta.2	+	5	777	c.629A>T	c.(628-630)AAT>ATT	p.N210I		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	210	2.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTATTCATCAATGTTTGTAGA	0.433000												
PARK2	5071	broad.mit.edu	37	6	162683735	162683735	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:162683735T>C	uc003qtx.3	-	3	368	c.234A>G	c.(232-234)CAA>CAG	p.Q78Q	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Silent_p.Q78Q|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Silent_p.Q78Q	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	78					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CATTCATTTCTTGACCTTTTC	0.507000												
PRR18	285800	broad.mit.edu	37	6	166721313	166721313	+	Silent	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr6:166721313G>C	uc003quw.1	-	1	559	c.318C>G	c.(316-318)ACC>ACG	p.T106T		NM_175922	NP_787118	Q8N4B5	PRR18_HUMAN	proline rich region 18	106						endoplasmic reticulum					0		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		TCGCCGCATAGGTGGTCCTCG	0.582000												
COL28A1	340267	broad.mit.edu	37	7	7412809	7412809	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:7412809G>A	uc003src.1	-	32	2845	c.2728C>T	c.(2728-2730)CGT>TGT	p.R910C	COL28A1_uc011jxe.1_Missense_Mutation_p.R593C	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTTTATCACGAGAATCTGTC	0.458000												
GLCCI1	113263	broad.mit.edu	37	7	8126036	8126036	+	Silent	SNP	G	G	A	rs146979444		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:8126036G>A	uc003srk.2	+	8	2071	c.1512G>A	c.(1510-1512)ACG>ACA	p.T504T		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	504											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTTCCTTTACGTCTCTTTCTG	0.577000												
FERD3L	222894	broad.mit.edu	37	7	19184942	19184942	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:19184942T>C	uc003suo.1	-	1	103	c.44A>G	c.(43-45)GAC>GGC	p.D15G	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	15					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TGCGACGAAGTCCAGCACCGT	0.677000												
DNAH11	8701	broad.mit.edu	37	7	21629008	21629008	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:21629008A>C	uc003svc.2	+	12	2187	c.2156A>C	c.(2155-2157)AAT>ACT	p.N719T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	719	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTCTGTGTCAATTTTGACCCA	0.303000									Kartagener_syndrome			
BBS9	27241	broad.mit.edu	37	7	33427710	33427710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:33427710C>T	uc003tdn.1	+	19	2582	c.2069C>T	c.(2068-2070)GCC>GTC	p.A690V	BBS9_uc003tdo.1_Missense_Mutation_p.A655V|BBS9_uc003tdp.1_Missense_Mutation_p.A685V|BBS9_uc003tdq.1_Missense_Mutation_p.A650V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.A214V|BBS9_uc003tds.1_Missense_Mutation_p.A113V|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	690					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			AAAACTCCTGCCCCTCTTCAA	0.388000									Bardet-Biedl_syndrome			
AMPH	273	broad.mit.edu	37	7	38433635	38433635	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:38433635T>C	uc003tgu.2	-	18	1647	c.1578A>G	c.(1576-1578)GAA>GAG	p.E526E	AMPH_uc003tgv.2_Silent_p.E484E|AMPH_uc003tgt.2_Silent_p.E411E|AMPH_uc003tgw.1_Silent_p.E549E|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	526					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GCTCCTCTGCTTCAGGTTGGG	0.582000												
AMPH	273	broad.mit.edu	37	7	38462019	38462019	+	Splice_Site	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:38462019A>G	uc003tgu.2	-	16	1341	c.1272_splice	c.e16+1	p.L424_splice	AMPH_uc003tgv.2_Splice_Site_p.L424_splice|AMPH_uc003tgt.2_Splice_Site_p.L351_splice|AMPH_uc003tgw.1_Splice_Site_p.L489_splice|AMPH_uc010kxl.1_Splice_Site	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						AAATCAACTTACCAAGTTGCA	0.358000												
GLI3	2737	broad.mit.edu	37	7	42005876	42005876	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:42005876T>G	uc011kbh.1	-	15	2886	c.2795A>C	c.(2794-2796)AAG>ACG	p.K932T	GLI3_uc011kbg.1_Missense_Mutation_p.K873T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	932					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						AGCCGCGTACTTGGCCTTGAG	0.721000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
ZMIZ2	83637	broad.mit.edu	37	7	44801438	44801438	+	Silent	SNP	C	C	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:44801438C>G	uc003tlr.2	+	11	1653	c.1530C>G	c.(1528-1530)CTC>CTG	p.L510L	ZMIZ2_uc003tlq.2_Silent_p.L452L|ZMIZ2_uc003tls.2_Silent_p.L484L|ZMIZ2_uc003tlt.2_Silent_p.L133L|ZMIZ2_uc010kyj.2_Silent_p.L32L	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	510					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						ACAAGCCACTCTACCTGAAGC	0.587000												
ABCA13	154664	broad.mit.edu	37	7	48312083	48312083	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:48312083A>C	uc003toq.2	+	17	2845	c.2820A>C	c.(2818-2820)GAA>GAC	p.E940D	ABCA13_uc010kyr.2_Missense_Mutation_p.E443D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	940					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAAAACAAGAAGTTGATAAAA	0.368000												
ABCA13	154664	broad.mit.edu	37	7	48313132	48313132	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:48313132A>C	uc003toq.2	+	17	3894	c.3869A>C	c.(3868-3870)GAG>GCG	p.E1290A	ABCA13_uc010kyr.2_Missense_Mutation_p.E793A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1290					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTTTTCATTGAGTTTAGCAGT	0.323000												
MAGI2	9863	broad.mit.edu	37	7	77885431	77885431	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:77885431G>C	uc003ugx.2	-	10	2130	c.1876C>G	c.(1876-1878)CAG>GAG	p.Q626E	MAGI2_uc003ugy.2_Missense_Mutation_p.Q626E|MAGI2_uc010ldx.1_Missense_Mutation_p.Q235E|MAGI2_uc010ldy.1_Missense_Mutation_p.Q235E|MAGI2_uc011kgr.1_Missense_Mutation_p.Q458E|MAGI2_uc011kgs.1_Missense_Mutation_p.Q463E	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	626	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTCACCCGCTGTCCTGTAGGA	0.512000												
HGF	3082	broad.mit.edu	37	7	81346652	81346652	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:81346652T>G	uc003uhl.2	-	11	1466	c.1301A>C	c.(1300-1302)AAG>ACG	p.K434T	HGF_uc003uhm.2_Missense_Mutation_p.K429T	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	434	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CTCATTCAGCTTACTTGCATC	0.428000												
SEMA3E	9723	broad.mit.edu	37	7	82996981	82996981	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:82996981T>C	uc003uhy.1	-	17	2715	c.2249A>G	c.(2248-2250)AAG>AGG	p.K750R		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	750	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GTTGGCATACTTCCACTTGGA	0.483000												
COL1A2	1278	broad.mit.edu	37	7	94052389	94052389	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:94052389T>G	uc003ung.1	+	40	2995	c.2524T>G	c.(2524-2526)TTC>GTC	p.F842V	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	842			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCTGGCTTCGCTGGTGA	0.532000										HNSCC(75;0.22)		
TRRAP	8295	broad.mit.edu	37	7	98547092	98547092	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:98547092A>T	uc003upp.2	+	35	5029	c.4820A>T	c.(4819-4821)AAC>ATC	p.N1607I	TRRAP_uc011kis.1_Missense_Mutation_p.N1589I|TRRAP_uc003upr.2_Missense_Mutation_p.N1306I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1607					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R1607H(1)		ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGCTGCCAACCCCAACAGG	0.557000												
CNPY4	245812	broad.mit.edu	37	7	99722428	99722428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:99722428G>T	uc003uto.2	+	6	767	c.664G>T	c.(664-666)GAG>TAG	p.E222*	MBLAC1_uc003utp.2_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	canopy 4 homolog precursor	222	Glu-rich.					extracellular region					0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					gcaggaggaggaggaggaaga	0.353000												
MLL5	55904	broad.mit.edu	37	7	104753074	104753074	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:104753074C>T	uc003vcm.2	+	27	5405	c.4871C>T	c.(4870-4872)GCC>GTC	p.A1624V	MLL5_uc010ljc.2_Missense_Mutation_p.A1624V|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.A358V	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1624	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						ACTGCTGCTGCCGTAGTCCCC	0.562000												
DOCK4	9732	broad.mit.edu	37	7	111387326	111387326	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:111387326T>G	uc003vfx.2	-	42	4832	c.4563A>C	c.(4561-4563)CAA>CAC	p.Q1521H	DOCK4_uc011kml.1_Missense_Mutation_p.Q402H|DOCK4_uc011kmm.1_Missense_Mutation_p.Q428H|DOCK4_uc003vfw.2_Missense_Mutation_p.Q971H|DOCK4_uc003vfy.2_Missense_Mutation_p.Q1566H	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1521	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TCCTTACCTCTTGATACCTGG	0.398000												
PPP1R3A	5506	broad.mit.edu	37	7	113518066	113518066	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:113518066T>G	uc010ljy.1	-	4	3112	c.3081A>C	c.(3079-3081)GAA>GAC	p.E1027D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	1027					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATCCTTCATTTTCATGCCTTG	0.398000												
PTPRZ1	5803	broad.mit.edu	37	7	121651971	121651971	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:121651971T>C	uc003vjy.2	+	12	3266	c.2871T>C	c.(2869-2871)ACT>ACC	p.T957T	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	957	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TGGGTGTAACTTATCAGGGTT	0.443000												
SMO	6608	broad.mit.edu	37	7	128846344	128846344	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:128846344T>C	uc003vor.2	+	6	1460	c.1180T>C	c.(1180-1182)TAC>CAC	p.Y394H	SMO_uc003vos.2_Missense_Mutation_p.Y69H	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	394	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						TTTTGTGGGCTACAAGAACTA	0.597000			Mis		skin basal cell 							
MLL3	58508	broad.mit.edu	37	7	151962143	151962143	+	Silent	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr7:151962143G>A	uc003wla.2	-	8	1383	c.1164C>T	c.(1162-1164)TGC>TGT	p.C388C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	388	PHD-type 1.|RING-type.|PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCACACTTTGCACTCAGGAC	0.408000			N		medulloblastoma							
LONRF1	91694	broad.mit.edu	37	8	12586497	12586497	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:12586497T>C	uc003wwd.1	-	10	1986	c.1923A>G	c.(1921-1923)ACA>ACG	p.T641T	LONRF1_uc011kxv.1_Silent_p.T230T|LONRF1_uc010lsp.1_Silent_p.T241T	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	641	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		TTCCTCCAACTGTATCAACCA	0.358000												
NRG1	3084	broad.mit.edu	37	8	32621594	32621594	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:32621594C>T	uc003xiv.2	+	12	2114	c.1597C>T	c.(1597-1599)CCA>TCA	p.P533S	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P538S|NRG1_uc003xiw.2_Missense_Mutation_p.P530S|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P275S|NRG1_uc010lvs.2_Missense_Mutation_p.P275S|NRG1_uc010lvp.2_Missense_Mutation_p.P487S|NRG1_uc010lvq.2_Missense_Mutation_p.P470S|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P376S|NRG1_uc003xja.2_Missense_Mutation_p.P344S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	533	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGAGTACGAGCCAGCCCAAGA	0.547000												
PREX2	80243	broad.mit.edu	37	8	69028107	69028107	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:69028107T>C	uc003xxv.1	+	26	3293	c.3266T>C	c.(3265-3267)GTA>GCA	p.V1089A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1089					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGTTTTAATGTAGCAGGAGAT	0.383000												
NCOA2	10499	broad.mit.edu	37	8	71036127	71036127	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:71036127G>A	uc003xyn.1	-	21	4447	c.4285C>T	c.(4285-4287)CCC>TCC	p.P1429S	NCOA2_uc011lfb.1_Missense_Mutation_p.P517S	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1429					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACCTGCTCGGGACCCATGGAG	0.507000			T	RUNXBP2	AML							
KCNB2	9312	broad.mit.edu	37	8	73480109	73480109	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:73480109A>G	uc003xzb.2	+	2	728	c.140A>G	c.(139-141)GAA>GGA	p.E47G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	47	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			CTCAACCACGAAGTCCTGTGG	0.567000												
DECR1	1666	broad.mit.edu	37	8	91033213	91033213	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:91033213C>G	uc003yek.1	+	5	635	c.494C>G	c.(493-495)ACT>AGT	p.T165S	DECR1_uc011lgc.1_Missense_Mutation_p.T156S|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	165					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AAAACCATAACTGACATAGTT	0.328000												
RRM2B	50484	broad.mit.edu	37	8	103226371	103226371	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:103226371A>T	uc003ykn.2	-	7	944	c.700T>A	c.(700-702)TTT>ATT	p.F234I	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.F182I|RRM2B_uc010mbw.1_Missense_Mutation_p.F22I|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	234					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AGGCAAGCAAAGTCACAGTGA	0.388000								Direct_reversal_of_damage|Modulation_of_nucleotide_pools				
RIMS2	9699	broad.mit.edu	37	8	105261784	105261784	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:105261784T>C	uc003yls.2	+	26	3954	c.3713T>C	c.(3712-3714)CTT>CCT	p.L1238P	RIMS2_uc003ylp.2_Missense_Mutation_p.L1220P|RIMS2_uc003ylw.2_Missense_Mutation_p.L1227P|RIMS2_uc003ylq.2_Missense_Mutation_p.L1034P|RIMS2_uc003ylr.2_Missense_Mutation_p.L1059P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1282	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCCCGTGGCCTTGTTGTAAAA	0.403000										HNSCC(12;0.0054)		
CSMD3	114788	broad.mit.edu	37	8	113529326	113529326	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:113529326T>G	uc003ynu.2	-	28	4852	c.4693A>C	c.(4693-4695)AGA>CGA	p.R1565R	CSMD3_uc003yns.2_Silent_p.R837R|CSMD3_uc003ynt.2_Silent_p.R1525R|CSMD3_uc011lhx.1_Silent_p.R1461R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1565	Extracellular (Potential).|Sushi 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						CAGGTTATTCTTTCCTCTCCT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
FLJ43860	389690	broad.mit.edu	37	8	142500269	142500269	+	Silent	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:142500269G>A	uc003ywi.2	-	5	726	c.645C>T	c.(643-645)GGC>GGT	p.G215G	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	215							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGGAAGACGCCCGTCAGGA	0.637000												
ZNF251	90987	broad.mit.edu	37	8	145948654	145948654	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr8:145948654C>T	uc003zdv.3	-	5	647	c.391G>A	c.(391-393)GCT>ACT	p.A131T		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CGAAACTCAGCGGCCTGTGCA	0.443000												
DENND4C	55667	broad.mit.edu	37	9	19372168	19372168	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:19372168T>G	uc003znq.2	+	28	5052	c.5019T>G	c.(5017-5019)ATT>ATG	p.I1673M	DENND4C_uc011lnc.1_Missense_Mutation_p.I1003M|DENND4C_uc011lnd.1_Missense_Mutation_p.I961M|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_3'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1673						integral to membrane				ovary(1)|skin(1)	2						CGCCTCTCATTTAAATAGAGA	0.403000												
SLC24A2	25769	broad.mit.edu	37	9	19786835	19786835	+	Silent	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:19786835A>C	uc003zoa.1	-	1	92	c.30T>G	c.(28-30)ACT>ACG	p.T10T	SLC24A2_uc003zob.1_Silent_p.T10T	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	10					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCTCTAGGGAAGTGATGGTGG	0.423000												
TAF1L	138474	broad.mit.edu	37	9	32630782	32630782	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:32630782A>C	uc003zrg.1	-	1	4886	c.4796T>G	c.(4795-4797)GTT>GGT	p.V1599G	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1599	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTATACTTAACACTGTTGGC	0.403000												
TAF1L	138474	broad.mit.edu	37	9	32632465	32632465	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:32632465T>C	uc003zrg.1	-	1	3203	c.3113A>G	c.(3112-3114)AAG>AGG	p.K1038R	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1038					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCGGGACAACTTTTTAATCTC	0.483000												
SIT1	27240	broad.mit.edu	37	9	35650844	35650844	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:35650844G>C	uc003zxe.1	-	1	104	c.7C>G	c.(7-9)CAG>GAG	p.Q3E	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	3					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGTCAGCCTGGTTCATGGCC	0.587000												
APBA1	320	broad.mit.edu	37	9	72131002	72131002	+	Silent	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:72131002T>C	uc004ahh.2	-	2	1401	c.1125A>G	c.(1123-1125)AAA>AAG	p.K375K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	375	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						AGATGGGCTCTTTGGGCTCGT	0.602000												
KIAA1529	57653	broad.mit.edu	37	9	100124034	100124034	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:100124034A>C	uc011lut.1	+	39	4832	c.4059A>C	c.(4057-4059)GAA>GAC	p.E1353D	KIAA1529_uc004axe.1_Missense_Mutation_p.E1185D|KIAA1529_uc004axg.1_Missense_Mutation_p.E1214D|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E370D	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				ACCAGGAGGAAGACAGTGACA	0.602000												
OR13F1	138805	broad.mit.edu	37	9	107267289	107267289	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:107267289T>G	uc011lvm.1	+	1	746	c.746T>G	c.(745-747)GTT>GGT	p.V249G		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						ATGGTGGTAGTTTTGTTCTAT	0.478000												
OR1L6	392390	broad.mit.edu	37	9	125512140	125512140	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:125512140A>C	uc011lzc.1	+	1	122	c.122A>C	c.(121-123)AAC>ACC	p.N41T		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L,	41	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGATAAAGAACTACAGCAGC	0.498000												
C9orf119	375757	broad.mit.edu	37	9	131038425	131038425	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:131038425A>C	uc004bup.2	+	1	1	c.1A>C	c.(1-3)ATG>CTG	p.M1L	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.M1L	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	1					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						GGGCGTGGCTATGCAGCGGCG	0.637000												
TRUB2	26995	broad.mit.edu	37	9	131077859	131077859	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:131077859G>T	uc004buq.1	-	4	375	c.365C>A	c.(364-366)GCT>GAT	p.A122D		NM_015679	NP_056494	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase homolog 2	122					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(1)	1						GGTAAGATGAGCATTGTACAT	0.572000												
COL5A1	1289	broad.mit.edu	37	9	137711978	137711978	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:137711978T>G	uc004cfe.2	+	58	4845	c.4463T>G	c.(4462-4464)ATC>AGC	p.I1488S	uc004cff.2_RNA	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1488	Triple-helical 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)		CCAGGCCTGATCGGGCTCATC	0.642000												
ABCA2	20	broad.mit.edu	37	9	139905696	139905696	+	Silent	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:139905696G>A	uc011mem.1	-	37	6010	c.5862C>T	c.(5860-5862)GGC>GGT	p.G1954G	ABCA2_uc011mel.1_Silent_p.G1955G|ABCA2_uc004ckl.1_Silent_p.G1885G|ABCA2_uc004ckm.1_Silent_p.G1985G	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1954					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGAGCCCGTGGCCCAGGTTGT	0.627000												
TBL1X	6907	broad.mit.edu	37	X	9665416	9665416	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:9665416T>G	uc010ndq.2	+	12	1429	c.1061T>G	c.(1060-1062)ATA>AGA	p.I354R	TBL1X_uc004csq.3_Missense_Mutation_p.I303R|TBL1X_uc010ndr.2_Missense_Mutation_p.I303R|TBL1X_uc004csr.2_Missense_Mutation_p.I354R|TBL1X_uc004css.2_Missense_Mutation_p.I305R	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	354	WD 3.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				CAGACAACAATAATTTGGGAT	0.333000												
REPS2	9185	broad.mit.edu	37	X	17153480	17153480	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:17153480A>C	uc004cxv.1	+	16	1930	c.1759A>C	c.(1759-1761)AGT>CGT	p.S587R	REPS2_uc004cxw.1_Missense_Mutation_p.S586R|REPS2_uc011miw.1_Missense_Mutation_p.S385R	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	587	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					CACTGCTGCAAGTGGGCCAGC	0.473000												
MAGEB3	4114	broad.mit.edu	37	X	30254229	30254229	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:30254229A>G	uc004dca.1	+	5	925	c.188A>G	c.(187-189)AAG>AGG	p.K63R		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	63											0						AGTGCTCTCAAGAAGCCTCAG	0.413000												
DMD	1756	broad.mit.edu	37	X	32360278	32360278	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:32360278T>C	uc004dda.1	-	41	6105	c.5861A>G	c.(5860-5862)AAG>AGG	p.K1954R	DMD_uc004dcw.2_Missense_Mutation_p.K610R|DMD_uc004dcx.2_Missense_Mutation_p.K613R|DMD_uc004dcz.2_Missense_Mutation_p.K1831R|DMD_uc004dcy.1_Missense_Mutation_p.K1950R|DMD_uc004ddb.1_Missense_Mutation_p.K1946R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1954	Spectrin 13.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCGCCAGCGCTTGCTGAGCTG	0.502000												
DMD	1756	broad.mit.edu	37	X	32430014	32430014	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:32430014T>G	uc004dda.1	-	30	4332	c.4088A>C	c.(4087-4089)AAG>ACG	p.K1363T	DMD_uc004dcw.2_Missense_Mutation_p.K19T|DMD_uc004dcx.2_Missense_Mutation_p.K22T|DMD_uc004dcz.2_Missense_Mutation_p.K1240T|DMD_uc004dcy.1_Missense_Mutation_p.K1359T|DMD_uc004ddb.1_Missense_Mutation_p.K1355T|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1363	Spectrin 9.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGCAACTTTTGCCTCCT	0.393000												
MAGEB16	139604	broad.mit.edu	37	X	35821201	35821201	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:35821201A>G	uc010ngt.1	+	2	1167	c.888A>G	c.(886-888)AAA>AAG	p.K296K		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	296	MAGE.									lung(3)|ovary(2)|breast(1)|skin(1)	7						TTGTGGCCAAAGTTCATGGGT	0.498000												
CACNA1F	778	broad.mit.edu	37	X	49071806	49071806	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:49071806T>G	uc004dnb.2	-	28	3529	c.3467A>C	c.(3466-3468)AAC>ACC	p.N1156T	CACNA1F_uc010nip.2_Missense_Mutation_p.N1145T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1156	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GGTCACCTGGTTCTTGTCCAG	0.557000												
CCNB3	85417	broad.mit.edu	37	X	50051704	50051704	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:50051704A>C	uc004dox.3	+	6	833	c.535A>C	c.(535-537)AAA>CAA	p.K179Q	CCNB3_uc004doy.2_Missense_Mutation_p.K179Q|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	179					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					ATTATCTTTAAAAAAGTGCTC	0.428000												
GPR173	54328	broad.mit.edu	37	X	53106155	53106155	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:53106155A>G	uc004dru.2	+	2	610	c.352A>G	c.(352-354)AGC>GGC	p.S118G		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	118	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GTTCTGCATCAGCGTCACCCG	0.587000												
PFKFB1	5207	broad.mit.edu	37	X	54987257	54987257	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:54987257T>A	uc004dty.1	-	3	388	c.317A>T	c.(316-318)AAG>ATG	p.K106M	PFKFB1_uc010nkd.1_Missense_Mutation_p.K92M|PFKFB1_uc011mol.1_Missense_Mutation_p.K41M	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	106	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						GGGTACTTACTTCCTGATTTG	0.443000												
KIAA2022	340533	broad.mit.edu	37	X	73963789	73963789	+	Silent	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:73963789T>G	uc004eby.2	-	3	1220	c.603A>C	c.(601-603)TCA>TCC	p.S201S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	201					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GGAGCTGGTCTGAGAGCAGCT	0.458000												
CYSLTR1	10800	broad.mit.edu	37	X	77528938	77528938	+	Silent	SNP	A	A	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:77528938A>G	uc004edb.2	-	3	706	c.306T>C	c.(304-306)GCT>GCC	p.A102A	CYSLTR1_uc010nma.2_Silent_p.A102A|CYSLTR1_uc010nmb.2_Silent_p.A102A	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	102	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TGACATACAAAGCATAGGTGC	0.428000												
FAM46D	169966	broad.mit.edu	37	X	79698243	79698243	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:79698243A>C	uc004edl.1	+	5	539	c.205A>C	c.(205-207)AGT>CGT	p.S69R	FAM46D_uc004edm.1_Missense_Mutation_p.S69R	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	69										lung(2)	2						TTCCGTAGCAAGTTACATACT	0.378000												
CYLC1	1538	broad.mit.edu	37	X	83127964	83127964	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:83127964A>C	uc004eei.1	+	4	269	c.248A>C	c.(247-249)AAA>ACA	p.K83T	CYLC1_uc004eeh.1_Missense_Mutation_p.K82T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	83					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TCTTTCAGAAAAATTTTGCAA	0.358000												
ARHGEF6	9459	broad.mit.edu	37	X	135750188	135750188	+	Nonstop_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:135750188T>G	uc004fab.2	-	22	2793	c.2331A>C	c.(2329-2331)TAA>TAC	p.*777Y	ARHGEF6_uc011mwd.1_Nonstop_Mutation_p.*650Y|ARHGEF6_uc011mwe.1_Nonstop_Mutation_p.*623Y	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	777					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					ACAGTGATGGTTATGGAAGAA	0.468000												
MCF2	4168	broad.mit.edu	37	X	138714595	138714595	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:138714595A>C	uc004fau.2	-	2	364	c.70T>G	c.(70-72)TTG>GTG	p.L24V	MCF2_uc004fav.2_Missense_Mutation_p.L24V|MCF2_uc011mwl.1_Missense_Mutation_p.L24V|MCF2_uc010nsh.1_Missense_Mutation_p.L24V|MCF2_uc011mwm.1_Missense_Mutation_p.L24V|MCF2_uc011mwn.1_Missense_Mutation_p.L169V|MCF2_uc004faw.2_Missense_Mutation_p.L84V|MCF2_uc011mwo.1_Missense_Mutation_p.L84V	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	24	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					ACCAAGTGCAAGTTCCCAGGG	0.373000												
MAGEC3	139081	broad.mit.edu	37	X	140953386	140953386	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:140953386T>G	uc011mwp.1	+	2	253	c.253T>G	c.(253-255)TTC>GTC	p.F85V		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	85										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCACATACTTCAAGGTAAG	0.532000												
MAGEC1	9947	broad.mit.edu	37	X	140994814	140994814	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:140994814T>C	uc004fbt.2	+	4	1910	c.1624T>C	c.(1624-1626)TCC>CCC	p.S542P	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	542							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGAGGACTCCCTGTCTCC	0.557000										HNSCC(15;0.026)		
PASD1	139135	broad.mit.edu	37	X	150773196	150773196	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:150773196T>G	uc004fev.3	+	3	439	c.107T>G	c.(106-108)GTG>GGG	p.V36G		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	36	PAS.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACCAAGTGACGCTACAG	0.303000												
ATP2B3	492	broad.mit.edu	37	X	152830478	152830478	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:152830478G>A	uc004fht.1	+	19	3385	c.3259G>A	c.(3259-3261)GAG>AAG	p.E1087K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E1087K|ATP2B3_uc010nuf.1_Missense_Mutation_p.E110K|ATP2B3_uc004fhu.1_Missense_Mutation_p.E10K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1087	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGAAGGCGAGGAAGAGAT	0.662000												
FLNA	2316	broad.mit.edu	37	X	153592919	153592919	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:153592919G>A	uc004fkk.2	-	13	2246	c.1997C>T	c.(1996-1998)GCG>GTG	p.A666V	FLNA_uc010nuu.1_Missense_Mutation_p.A666V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	666					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.A666A(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCCTGGGGCGCGTCACGGAT	0.627000												
GAB3	139716	broad.mit.edu	37	X	153940729	153940729	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:153940729T>G	uc004fmj.1	-	4	889	c.841A>C	c.(841-843)AGT>CGT	p.S281R	GAB3_uc004fmk.1_Missense_Mutation_p.S282R|GAB3_uc010nve.1_Missense_Mutation_p.S282R|GAB3_uc004fml.1_Intron	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	281										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGTGGAACTTAAGGAACTT	0.512000												
IFT57	55081	broad.mit.edu	37	3	107910459	107910460	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:107910459_107910460delAT	uc003dwx.3	-	6	933_934	c.685_686delAT	c.(685-687)ATTfs	p.I229fs		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	229					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)			GGATTCCAAAATATCTTCTTGT	0.371												
ZNF484	83744	broad.mit.edu	37	9	95609123	95609123	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr9:95609123delG	uc004asu.1	-	5	2095	c.1946delC	c.(1945-1947)TCAfs	p.S649fs	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Frame_Shift_Del_p.S651fs|ZNF484_uc010mrb.1_Frame_Shift_Del_p.S613fs|ZNF484_uc004asv.1_Frame_Shift_Del_p.S613fs	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	649	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGAGATTTGATCTGTCAGT	0.418												
TF	7018	broad.mit.edu	37	3	133476714	133476715	+	Frame_Shift_Ins	INS	-	-	C	rs148358704		TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr3:133476713_133476714T>TC	uc003epu.2	+	12	2699_2700	c.971_972T>TC	c.(970-972)gtcfs	p.V324fs	TF_uc011blt.2_Frame_Shift_Ins_p.V197fs|TF_uc003epw.2_Intron|TF_uc003epv.2_Frame_Shift_Ins_p.V324fs	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	324	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGGA	0.485												
B4GALT6	9331	broad.mit.edu	37	18	29218671	29218671	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:29218670_29218670GA>G	uc002kwz.4	-	4	822	c.525_525TC>C	c.(523-525)ttcfs	p.F175fs	B4GALT6_uc010dma.3_Frame_Shift_Del_p.F136fs|B4GALT6_uc010dmb.3_Intron	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.	175					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TCAGATGTAAGAAAAAAATTG	0.353												
KLHL14	57565	broad.mit.edu	37	18	30275464	30275466	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr18:30275463_30275465CAAG>C	uc002kxm.1	-	3	1508_1510	c.1120_1122CTTG>G	c.(1120-1122)ttg>G	p.L374del		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	374						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAACACGAACAAGAAGTTTTCC	0.404												
KCNB1	3745	broad.mit.edu	37	20	47990175	47990175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chr20:47990174_47990174GT>G	uc002xur.1	-	1	2089	c.1923_1923AC>C	c.(1921-1923)aacfs	p.N641fs	KCNB1_uc002xus.1_Frame_Shift_Del_p.N641fs	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	641					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGGCTGGGGTTGGCCTCCA	0.567												
PCDH11X	27328	broad.mit.edu	37	X	91133643	91133644	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8485-01A-11D-2394-08	TCGA-BR-8485-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	402ccb96-9853-435a-8b18-f7331e3ef5d9	aeb401f8-7686-47d9-a690-d7fda664079a	g.chrX:91133642_91133643T>TC	uc004efk.2	+	1	3248_3249	c.2403_2404T>TC	c.(2401-2406)gctgatfs	p.A801fs	PCDH11X_uc004efl.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc010nmv.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efm.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efn.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efo.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efh.2_Frame_Shift_Ins_p.A801fs|PCDH11X_uc004efj.1_Frame_Shift_Ins_p.A801fs	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	801					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAGATAGCTGATGTATCCTC	0.446