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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
PYROXD2	84795	broad.mit.edu	37	10	100157240	100157240	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:100157240C>A	uc001kpc.2	-	c.487G>T	c.(487-489)GAG>TAG	p.E163*	PYROXD2_uc001kpb.2_Non-coding_Transcript|PYROXD2_uc001kpd.2_Non-coding_Transcript|PYROXD2_uc010qpe.1_Nonsense_Mutation_p.E163*|MIR1287_hsa-mir-1287|MI0006349_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	163					oxidation-reduction process		oxidoreductase activity			central_nervous_system(1)	1														0.108108	2.870105	8.509585	4	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100157240	100157240	13325	10	C	A	A	A	377	29	PYROXD2	5	2
PSD	5662	broad.mit.edu	37	10	104176415	104176416	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104176415_104176416CC>AA	uc001kvg.1	-	c.380_381GG>TT	c.(379-381)TGG>TTT	p.W127F	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.W127F|PSD_uc001kvi.1_Missense_Mutation_p.W127F|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	127	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)										0.219512	21.053067	24.024198	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	104176415	104176416	13099	10	CC	AA	AA	AA	286	22	PSD	2	2
SORCS3	22986	broad.mit.edu	37	10	106916950	106916950	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106916950A>T	uc001kyi.1	+	c.1537A>T	c.(1537-1539)AAG>TAG	p.K513*		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	513	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.071749	-11.226482	30.864482	16	207	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	106916950	106916950	15432	10	A	T	T	T	117	9	SORCS3	5	3
ATRNL1	26033	broad.mit.edu	37	10	117024724	117024724	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117024724G>T	uc001lcg.2	+	c.1742G>T	c.(1741-1743)AGA>ATA	p.R581I		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	581	Kelch 5.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.150376	29.807815	45.404272	20	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117024724	117024724	1226	10	G	T	T	T	429	33	ATRNL1	2	2
GFRA1	2674	broad.mit.edu	37	10	117853300	117853300	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117853300C>A	uc001lcj.2	-	c.928G>T	c.(928-930)GCC>TCC	p.A310S	GFRA1_uc001lci.2_Missense_Mutation_p.A305S|GFRA1_uc009xyr.2_Missense_Mutation_p.A305S	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	310	3.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell line-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		Ovarian(128;329 1725 45498 46808 50759)								0.171171	34.280124	45.617881	19	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117853300	117853300	6615	10	C	A	A	A	338	26	GFRA1	2	2
GFRA1	2674	broad.mit.edu	37	10	117885056	117885056	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117885056G>A	uc001lcj.2	-	c.446C>T	c.(445-447)CCC>CTC	p.P149L	GFRA1_uc001lci.2_Missense_Mutation_p.P144L|GFRA1_uc009xyr.2_Missense_Mutation_p.P144L	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	149					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell line-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		Ovarian(128;329 1725 45498 46808 50759)								0.114286	5.173433	10.307804	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117885056	117885056	6615	10	G	A	A	A	559	43	GFRA1	2	2
PNLIPRP2	5408	broad.mit.edu	37	10	118404587	118404587	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118404587G>C	uc001lcq.2	+	c.1392G>C	c.(1390-1392)TTG>TTC	p.L464F		NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	463	PLAT.				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)										0.111111	8.08834	14.775276	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118404587	118404587	12577	10	G	C	C	C	594	46	PNLIPRP2	3	3
PRAP1	118471	broad.mit.edu	37	10	135165551	135165551	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135165551G>T	uc001lmp.2	+	c.169G>T	c.(169-171)GAC>TAC	p.D57Y	PRAP1_uc001lmr.2_Missense_Mutation_p.D57Y|PRAP1_uc001lmq.1_Missense_Mutation_p.D29Y	NM_145202	NP_660203	Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1 isoform 1	57						extracellular region					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)										0.142857	6.983382	10.422892	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135165551	135165551	12883	10	G	T	T	T	481	37	PRAP1	1	1
ITGA8	8516	broad.mit.edu	37	10	15614333	15614333	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15614333G>A	uc001ioc.1	-	c.2514C>T	c.(2512-2514)ACC>ACT	p.T838T	ITGA8_uc010qcb.1_Silent_p.T823T	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	838	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.195266	74.906271	89.518532	33	136	KEEP	---	---	---	---	capture		Silent	SNP	15614333	15614333	8186	10	G	A	A	A	600	47	ITGA8	2	2
CUBN	8029	broad.mit.edu	37	10	17113474	17113474	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17113474G>C	uc001ioo.2	-	c.2576C>G	c.(2575-2577)ACT>AGT	p.T859S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	859	CUB 4.				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)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.083333	7.514747	37.158256	14	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17113474	17113474	4211	10	G	C	C	C	468	36	CUBN	3	3
NEBL	10529	broad.mit.edu	37	10	21124440	21124440	+	Splice_Site_SNP	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21124440A>C	uc001iqi.2	-	c.1449_splice	c.e14+1	p.E483_splice	NEBL_uc001iqj.2_Splice_Site_SNP|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_Splice_Site_SNP	NM_006393	NP_006384			nebulette sarcomeric isoform						regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2														0.03211	-78.599535	26.387743	14	422	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	21124440	21124440	10702	10	A	C	C	C	26	2	NEBL	5	4
GAD2	2572	broad.mit.edu	37	10	26508113	26508113	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26508113A>T	uc001isp.2	+	c.428A>T	c.(427-429)CAA>CTA	p.Q143L	GAD2_uc009xkr.2_Missense_Mutation_p.Q143L|GAD2_uc001isq.2_Missense_Mutation_p.Q143L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	143					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Glutamic Acid(DB00142)									0.140351	23.677716	38.065598	16	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26508113	26508113	6431	10	A	T	T	T	65	5	GAD2	3	3
ANKRD30A	91074	broad.mit.edu	37	10	37508121	37508121	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37508121G>A	uc001iza.1	+	c.3313G>A	c.(3313-3315)GCA>ACA	p.A1105T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1161	Potential.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.046448	-51.07092	29.24526	17	349	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37508121	37508121	663	10	G	A	A	A	546	42	ANKRD30A	2	2
DIP2C	22982	broad.mit.edu	37	10	387246	387246	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:387246G>C	uc001ifp.2	-	c.3477C>G	c.(3475-3477)GCC>GCG	p.A1159A	DIP2C_uc009xhi.1_Silent_p.A545A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1159						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)						1018				0.108108	7.370392	18.529734	8	66	KEEP	---	---	---	---	capture		Silent	SNP	387246	387246	4708	10	G	C	C	C	444	35	DIP2C	3	3
C10orf10	11067	broad.mit.edu	37	10	45473262	45473262	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:45473262A>C	uc001jbr.3	-	c.217T>G	c.(217-219)TGC>GGC	p.C73G	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	73						mitochondrion					0														0.121212	4.876809	9.51769	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45473262	45473262	1614	10	A	C	C	C	91	7	C10orf10	4	4
PPYR1	5540	broad.mit.edu	37	10	47087408	47087408	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:47087408C>A	uc001jee.2	+	c.625C>A	c.(625-627)CAC>AAC	p.H209N	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.H209N	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	209	Extracellular (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)	1														0.042194	-37.038253	16.341502	10	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47087408	47087408	12852	10	C	A	A	A	377	29	PPYR1	2	2
JMJD1C	221037	broad.mit.edu	37	10	64952903	64952903	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64952903C>A	uc001jmn.2	-	c.5871G>T	c.(5869-5871)CAG>CAT	p.Q1957H	JMJD1C_uc001jml.2_Intron|JMJD1C_uc001jmm.2_Missense_Mutation_p.Q1669H|JMJD1C_uc010qiq.1_Missense_Mutation_p.Q1775H|JMJD1C_uc009xpi.2_Missense_Mutation_p.Q1775H|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Missense_Mutation_p.Q855H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1957					blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.115942	8.146793	18.170661	8	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64952903	64952903	8254	10	C	A	A	A	415	32	JMJD1C	2	2
TET1	80312	broad.mit.edu	37	10	70451365	70451365	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70451365G>T	uc001jok.3	+	c.6205G>T	c.(6205-6207)GAG>TAG	p.E2069*		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	2069					DNA demethylation|inner cell mass cell differentiation|oxidation-reduction process|stem cell maintenance	nucleus	iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)	5										280				0.16	13.865512	19.372104	8	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70451365	70451365	16296	10	G	T	T	T	585	45	TET1	5	2
ADAMTS14	140766	broad.mit.edu	37	10	72503391	72503391	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72503391G>T	uc001jrg.2	+	c.2021G>T	c.(2020-2022)TGC>TTC	p.C674F	ADAMTS14_uc001jrh.2_Missense_Mutation_p.C671F|ADAMTS14_uc001jri.1_Missense_Mutation_p.C194F	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	671	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)	5														0.166667	7.485759	10.01359	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72503391	72503391	260	10	G	T	T	T	598	46	ADAMTS14	2	2
CDH23	64072	broad.mit.edu	37	10	73544081	73544081	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73544081G>T	uc001jrx.3	+	c.5406G>T	c.(5404-5406)AGG>AGT	p.R1802S		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1802	Cadherin 17.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.134752	26.073761	44.28948	19	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73544081	73544081	3237	10	G	T	T	T	555	43	CDH23	2	2
CDH23	64072	broad.mit.edu	37	10	73550110	73550110	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73550110G>T	uc001jrx.3	+	c.5989G>T	c.(5989-5991)GTG>TTG	p.V1997L		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1997	Cadherin 19.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.1	1.908627	6.699079	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73550110	73550110	3237	10	G	T	T	T	520	40	CDH23	1	1
KIAA0913	23053	broad.mit.edu	37	10	75556676	75556676	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75556676C>T	uc001jve.2	+	c.3178C>T	c.(3178-3180)CCA>TCA	p.P1060S	KIAA0913_uc009xrl.2_Missense_Mutation_p.P1055S|KIAA0913_uc001jvf.2_Missense_Mutation_p.P1055S|KIAA0913_uc001jvh.2_Non-coding_Transcript|KIAA0913_uc001jvi.2_Missense_Mutation_p.P490S|KIAA0913_uc010qkr.1_Missense_Mutation_p.P478S|KIAA0913_uc001jvj.2_Missense_Mutation_p.P478S|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1055							zinc ion binding			breast(1)	1	Prostate(51;0.0112)													0.059322	-9.416652	14.516497	7	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75556676	75556676	8507	10	C	T	T	T	234	18	KIAA0913	2	2
ITIH5	80760	broad.mit.edu	37	10	7611657	7611657	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7611657C>T	uc001ijq.2	-	c.2123G>A	c.(2122-2124)AGG>AAG	p.R708K	ITIH5_uc001ijp.2_Missense_Mutation_p.R494K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	708					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.241379	37.619607	41.15967	14	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7611657	7611657	8211	10	C	T	T	T	312	24	ITIH5	2	2
DLG5	9231	broad.mit.edu	37	10	79581697	79581697	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79581697T>G	uc001jzk.2	-	c.2545A>C	c.(2545-2547)ACG>CCG	p.T849P	DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.3_Missense_Mutation_p.T453P	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	849					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)											0.216495	55.129715	62.315612	21	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79581697	79581697	4738	10	T	G	G	G	767	59	DLG5	4	4
SFTPD	6441	broad.mit.edu	37	10	81697913	81697913	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:81697913T>C	uc001kbh.2	-	c.823A>G	c.(823-825)ACG>GCG	p.T275A	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	275	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding				0	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)											0.064103	-2.377232	13.023072	5	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81697913	81697913	14684	10	T	C	C	C	741	57	SFTPD	4	4
CDHR1	92211	broad.mit.edu	37	10	85972974	85972975	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85972974_85972975CC>AA	uc001kcv.2	+	c.1910_1911CC>AA	c.(1909-1911)TCC>TAA	p.S637*	CDHR1_uc001kcw.2_Nonsense_Mutation_p.S637*|CDHR1_uc009xst.2_Nonsense_Mutation_p.S341*|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	637	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1														0.174359	58.481119	78.078973	34	161	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	85972974	85972975	3247	10	CC	AA	AA	AA	390	30	CDHR1	5	2
LRIT2	340745	broad.mit.edu	37	10	85984516	85984516	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85984516G>T	uc010qmc.1	-	c.465C>A	c.(463-465)TAC>TAA	p.Y155*	LRIT2_uc001kcy.2_Nonsense_Mutation_p.Y155*	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	155	LRR 4.					integral to membrane				ovary(2)	2														0.0625	-11.783544	20.140529	10	150	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	85984516	85984516	9321	10	G	T	T	T	568	44	LRIT2	5	2
PAPSS2	9060	broad.mit.edu	37	10	89475487	89475487	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89475487A>T	uc001kew.2	+	c.754_splice	c.e7-2	p.L252_splice	PAPSS2_uc001kex.2_Splice_Site_SNP_p.L252_splice|PAPSS2_uc009xtg.1_Splice_Site_SNP	NM_001015880	NP_001015880			3'-phosphoadenosine 5'-phosphosulfate synthase 2						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)	1		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)										0.070707	-2.554549	16.261397	7	92	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	89475487	89475487	11852	10	A	T	T	T	91	7	PAPSS2	5	3
CH25H	9023	broad.mit.edu	37	10	90966765	90966765	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90966765A>T	uc001kfz.2	-	c.285T>A	c.(283-285)CAT>CAA	p.H95Q		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	95	Helical; (Potential).				bile acid biosynthetic process|fatty acid biosynthetic process|oxidation-reduction process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)										0.12963	10.899803	18.099721	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90966765	90966765	3440	10	A	T	T	T	102	8	CH25H	3	3
CYP2C19	1557	broad.mit.edu	37	10	96535209	96535209	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96535209C>A	uc010qnz.1	+	c.394C>A	c.(394-396)CGG>AGG	p.R132R	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Silent_p.R110R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)	5		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)									0.098143	24.99624	85.924519	37	340	KEEP	---	---	---	---	capture		Silent	SNP	96535209	96535209	4331	10	C	A	A	A	347	27	CYP2C19	1	1
MMP10	4319	broad.mit.edu	37	11	102649400	102649400	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102649400C>A	uc001phg.1	-	c.577G>T	c.(577-579)GAT>TAT	p.D193Y		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	193					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)										0.035874	-38.802989	13.372042	8	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102649400	102649400	10039	11	C	A	A	A	416	32	MMP10	2	2
KIAA1826	84437	broad.mit.edu	37	11	105881530	105881530	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:105881530T>C	uc001piy.2	-	c.115A>G	c.(115-117)ACA>GCA	p.T39A	KIAA1826_uc001piz.2_Missense_Mutation_p.T39A	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	39						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)										0.052113	-54.577349	95.990116	37	673	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105881530	105881530	8571	11	T	C	C	C	780	60	KIAA1826	4	4
C11orf53	341032	broad.mit.edu	37	11	111156581	111156581	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111156581C>A	uc001plc.2	+	c.513C>A	c.(511-513)CAC>CAA	p.H171Q		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	hypothetical protein LOC341032	171											0		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)										0.13617	44.587166	74.693365	32	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111156581	111156581	1687	11	C	A	A	A	233	18	C11orf53	2	2
C11orf52	91894	broad.mit.edu	37	11	111796789	111796789	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111796789G>T	uc001pmh.2	+	c.238G>T	c.(238-240)GAC>TAC	p.D80Y	C11orf52_uc001pmi.2_Missense_Mutation_p.D80Y	NM_080659	NP_542390	Q96A22	CK052_HUMAN	hypothetical protein LOC91894	80										ovary(1)	1		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)										0.193548	26.262583	31.697935	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111796789	111796789	1686	11	G	T	T	T	585	45	C11orf52	2	2
NNMT	4837	broad.mit.edu	37	11	114167310	114167310	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114167310A>G	uc001por.1	+	c.32A>G	c.(31-33)TAT>TGT	p.Y11C	NNMT_uc001pos.1_Missense_Mutation_p.Y11C	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	11					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)									0.074286	2.451008	34.999704	13	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114167310	114167310	10912	11	A	G	G	G	208	16	NNMT	4	4
FAM55A	120400	broad.mit.edu	37	11	114401094	114401094	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114401094G>C	uc001ppa.2	-	c.210C>G	c.(208-210)GGC>GGG	p.G70G	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Silent_p.G212G	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	212						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)										0.029126	-55.669037	19.633676	9	300	KEEP	---	---	---	---	capture		Silent	SNP	114401094	114401094	5806	11	G	C	C	C	587	46	FAM55A	3	3
MLL	4297	broad.mit.edu	37	11	118376837	118376837	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118376837A>G	uc001ptb.2	+	c.10230A>G	c.(10228-10230)CCA>CCG	p.P3410P	MLL_uc001pta.2_Silent_p.P3407P	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3407					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|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	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)						723				0.08125	0.164689	28.735149	13	147	KEEP	---	---	---	---	capture		Silent	SNP	118376837	118376837	10010	11	A	G	G	G	67	6	MLL	4	4
TMEM25	84866	broad.mit.edu	37	11	118404185	118404185	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118404185G>T	uc001ptk.3	+	c.724G>T	c.(724-726)GCT>TCT	p.A242S	TMEM25_uc010ryd.1_Missense_Mutation_p.A242S|TMEM25_uc010rye.1_Missense_Mutation_p.A242S|TMEM25_uc001pth.2_Intron|TMEM25_uc009zad.2_Intron|TMEM25_uc001pti.2_Intron|TMEM25_uc010ryf.1_Missense_Mutation_p.A145S|TMEM25_uc001ptl.2_Missense_Mutation_p.A242S|TMEM25_uc001ptm.2_Intron|TMEM25_uc001ptn.2_Intron	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 4	242	Helical; (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)										0.086614	2.188977	24.112876	11	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118404185	118404185	16689	11	G	T	T	T	598	46	TMEM25	2	2
FOXR1	283150	broad.mit.edu	37	11	118849710	118849710	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118849710C>A	uc001pui.2	+	c.180C>A	c.(178-180)AAC>AAA	p.N60K	FOXR1_uc001puj.2_Non-coding_Transcript|FOXR1_uc001puk.2_5'UTR	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	60					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)										0.045326	-45.911532	32.075168	16	337	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118849710	118849710	6277	11	C	A	A	A	220	17	FOXR1	2	2
USP47	55031	broad.mit.edu	37	11	11942041	11942041	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:11942041G>C	uc001mjs.2	+	c.1218G>C	c.(1216-1218)GAG>GAC	p.E406D	USP47_uc001mjq.1_Missense_Mutation_p.E426D|USP47_uc001mjr.2_Missense_Mutation_p.E338D	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	426					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of gene-specific transcription|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	specific transcriptional repressor activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)										0.074468	-4.926381	12.538795	7	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11942041	11942041	17642	11	G	C	C	C	451	35	USP47	3	3
GRAMD1B	57476	broad.mit.edu	37	11	123484258	123484258	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123484258A>T	uc001pyw.2	+	c.1711A>T	c.(1711-1713)AGG>TGG	p.R571W	GRAMD1B_uc001pyx.2_Missense_Mutation_p.R564W|GRAMD1B_uc010rzw.1_Missense_Mutation_p.R524W|GRAMD1B_uc010rzx.1_Missense_Mutation_p.R524W|GRAMD1B_uc001pyy.2_Missense_Mutation_p.R255W	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	564						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)						1503				0.071429	-5.308814	10.594609	6	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123484258	123484258	7024	11	A	T	T	T	140	11	GRAMD1B	3	3
ROBO3	64221	broad.mit.edu	37	11	124747551	124747551	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124747551A>G	uc001qbc.2	+	c.2983A>G	c.(2983-2985)AAC>GAC	p.N995D	ROBO3_uc010saq.1_Missense_Mutation_p.N44D|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Missense_Mutation_p.N44D|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	995	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)										0.086957	1.86496	9.80877	4	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124747551	124747551	13994	11	A	G	G	G	65	5	ROBO3	4	4
HEPN1	641654	broad.mit.edu	37	11	124789750	124789750	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124789750G>A	uc001qbj.1	+	c.104G>A	c.(103-105)AGG>AAG	p.R35K	HEPACAM_uc009zbj.2_3'UTR|HEPACAM_uc001qbk.2_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	HEPACAM opposite strand 1	35						cytoplasm					0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)										0.09375	4.402083	20.333297	9	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124789750	124789750	7339	11	G	A	A	A	455	35	HEPN1	2	2
ETS1	2113	broad.mit.edu	37	11	128333509	128333509	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128333509G>T	uc001qej.2	-	c.1137C>A	c.(1135-1137)ATC>ATA	p.I379I	ETS1_uc010sbs.1_Silent_p.I335I|ETS1_uc009zch.2_Silent_p.I119I|ETS1_uc009zcg.2_Intron	NM_001143820	NP_001137292	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	335	ETS.			SGPIQL -> RRPPAA (in Ref. 6; AAA52409).	cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|central_nervous_system(1)|pleura(1)	3	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)										0.054726	-22.857475	19.217463	11	190	KEEP	---	---	---	---	capture		Silent	SNP	128333509	128333509	5468	11	G	T	T	T	525	41	ETS1	2	2
ETS1	2113	broad.mit.edu	37	11	128359246	128359246	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128359246G>A	uc001qej.2	-	c.474C>T	c.(472-474)CTC>CTT	p.L158L	ETS1_uc010sbs.1_Silent_p.L114L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.L114L	NM_001143820	NP_001137292	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	114	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|central_nervous_system(1)|pleura(1)	3	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)										0.033416	-145.137983	46.737556	27	781	KEEP	---	---	---	---	capture		Silent	SNP	128359246	128359246	5468	11	G	A	A	A	470	37	ETS1	1	1
FLI1	2313	broad.mit.edu	37	11	128651903	128651903	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128651903T>G	uc010sbu.1	+	c.640T>G	c.(640-642)TTG>GTG	p.L214V	FLI1_uc010sbt.1_Missense_Mutation_p.L21V|FLI1_uc010sbv.1_Missense_Mutation_p.L181V|FLI1_uc009zci.2_Missense_Mutation_p.L148V	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	214					hemostasis|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2262)	bone(2208)|soft_tissue(46)|autonomic_ganglia(4)|central_nervous_system(4)|ovary(2)|pancreas(2)|lung(1)	2267	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)						400				0.064	-11.908473	37.556247	16	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128651903	128651903	6162	11	T	G	G	G	673	52	FLI1	4	4
ARHGAP32	9743	broad.mit.edu	37	11	128839071	128839071	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128839071T>A	uc009zcp.2	-	c.5995A>T	c.(5995-5997)AGG>TGG	p.R1999W	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.R958W|ARHGAP32_uc001qez.2_Missense_Mutation_p.R1650W	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1999	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5														0.047244	-16.352978	11.376939	6	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128839071	128839071	893	11	T	A	A	A	700	54	ARHGAP32	3	3
ADAMTS8	11095	broad.mit.edu	37	11	130275920	130275920	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130275920G>A	uc001qgg.3	-	c.2203C>T	c.(2203-2205)CTG>TTG	p.L735L	ADAMTS8_uc001qgf.2_Silent_p.L216L	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	735	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)										0.112245	33.563591	77.233341	33	261	KEEP	---	---	---	---	capture		Silent	SNP	130275920	130275920	273	11	G	A	A	A	438	34	ADAMTS8	2	2
NTM	50863	broad.mit.edu	37	11	132177643	132177643	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132177643C>A	uc010sci.1	+	c.587C>A	c.(586-588)TCA>TAA	p.S196*	NTM_uc001qgm.2_Nonsense_Mutation_p.S196*|NTM_uc010sch.1_Nonsense_Mutation_p.S187*|NTM_uc010scj.1_Nonsense_Mutation_p.S155*|NTM_uc001qgo.2_Nonsense_Mutation_p.S196*|NTM_uc001qgq.2_Nonsense_Mutation_p.S196*|NTM_uc001qgp.2_Nonsense_Mutation_p.S196*|NTM_uc001qgr.2_5'UTR	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	196	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5														0.207921	41.510336	49.636701	21	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	132177643	132177643	11104	11	C	A	A	A	377	29	NTM	5	2
CALCA	796	broad.mit.edu	37	11	14992724	14992724	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:14992724C>A	uc001mlv.1	-	c.15G>T	c.(13-15)AAG>AAT	p.K5N	CALCA_uc001mlt.1_Missense_Mutation_p.K5N|CALCA_uc001mlu.1_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.K5N	NM_001741	NP_001732	P06881	CALCA_HUMAN	calcitonin isoform CALCA preproprotein	5					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytoplasm|extracellular space	hormone activity			central_nervous_system(1)	1					Phentolamine(DB00692)									0.066667	-10.996286	24.000275	12	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14992724	14992724	2691	11	C	A	A	A	259	20	CALCA	2	2
CALCB	797	broad.mit.edu	37	11	15096627	15096627	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15096627C>A	uc001mlx.1	+	c.107C>A	c.(106-108)CCA>CAA	p.P36Q	CALCB_uc009ygr.1_Missense_Mutation_p.P36Q	NM_000728	NP_000719	P10092	CALCB_HUMAN	calcitonin-related polypeptide, beta precursor	36					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity				0												OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.097143	10.667173	39.098638	17	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15096627	15096627	2692	11	C	A	A	A	273	21	CALCB	2	2
ABCC8	6833	broad.mit.edu	37	11	17450162	17450162	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17450162C>G	uc001mnc.2	-	c.1873G>C	c.(1873-1875)GCC>CCC	p.A625P		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	625	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.061728	-7.661208	8.478647	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17450162	17450162	59	11	C	G	G	G	325	25	ABCC8	3	3
MRGPRX4	117196	broad.mit.edu	37	11	18195302	18195303	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18195302_18195303GG>TT	uc001mnv.1	+	c.499_500GG>TT	c.(499-501)GGT>TTT	p.G167F		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	167	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.075342	-8.844083	45.38917	22	270	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	18195302	18195303	10162	11	GG	TT	TT	TT	611	47	MRGPRX4	2	2
PRMT3	10196	broad.mit.edu	37	11	20473749	20473749	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20473749G>T	uc001mqb.2	+	c.1067G>T	c.(1066-1068)GGC>GTC	p.G356V	PRMT3_uc001mqc.2_Missense_Mutation_p.G279V|PRMT3_uc010rdn.1_Missense_Mutation_p.G294V	NM_005788	NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3 isoform 1	356							zinc ion binding				0														0.073529	-3.382425	21.971665	10	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20473749	20473749	12981	11	G	T	T	T	546	42	PRMT3	2	2
SLC6A5	9152	broad.mit.edu	37	11	20648268	20648268	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20648268G>A	uc001mqd.2	+	c.1275G>A	c.(1273-1275)ACG>ACA	p.T425T	SLC6A5_uc009yic.2_Silent_p.T190T	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	425	Helical; Name=5; (Potential).		T -> M (in STHE; no effect on subcellular location; impairs glycine transport).		synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.081081	0.90641	20.737298	9	102	KEEP	---	---	---	---	capture		Silent	SNP	20648268	20648268	15184	11	G	A	A	A	496	39	SLC6A5	1	1
NELL1	4745	broad.mit.edu	37	11	20869131	20869131	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20869131A>G	uc009yid.2	+	c.422A>G	c.(421-423)TAT>TGT	p.Y141C	NELL1_uc001mqe.2_Missense_Mutation_p.Y113C|NELL1_uc001mqf.2_Missense_Mutation_p.Y113C|NELL1_uc010rdo.1_Intron|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	113	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.085714	4.213827	16.374643	6	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20869131	20869131	10732	11	A	G	G	G	208	16	NELL1	4	4
SLC17A6	57084	broad.mit.edu	37	11	22363248	22363248	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22363248C>G	uc001mqk.2	+	c.261C>G	c.(259-261)ATC>ATG	p.I87M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	87	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4														0.078431	1.043111	19.549805	8	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363248	22363248	14917	11	C	G	G	G	382	30	SLC17A6	3	3
ANO3	63982	broad.mit.edu	37	11	26655757	26655757	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26655757C>A	uc001mqt.3	+	c.1880C>A	c.(1879-1881)CCT>CAT	p.P627H	ANO3_uc010rdr.1_Missense_Mutation_p.P611H|ANO3_uc010rds.1_Missense_Mutation_p.P466H|ANO3_uc010rdt.1_Missense_Mutation_p.P481H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	627	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.058252	-8.641298	12.434523	6	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26655757	26655757	706	11	C	A	A	A	312	24	ANO3	2	2
FIBIN	387758	broad.mit.edu	37	11	27016683	27016683	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27016683C>T	uc001mrd.2	+	c.610C>T	c.(610-612)CTG>TTG	p.L204L		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	204						extracellular region|Golgi apparatus					0														0.121951	19.099478	36.269145	15	108	KEEP	---	---	---	---	capture		Silent	SNP	27016683	27016683	6123	11	C	T	T	T	363	28	FIBIN	2	2
PAX6	5080	broad.mit.edu	37	11	31812340	31812340	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31812340C>A	uc001mtg.3	-	c.1143G>T	c.(1141-1143)CGG>CGT	p.R381R	PAX6_uc001mtd.3_Silent_p.R367R|PAX6_uc001mte.3_Silent_p.R367R|PAX6_uc001mtf.3_Silent_p.R367R|PAX6_uc001mth.3_Silent_p.R367R|PAX6_uc009yjr.2_Silent_p.R367R	NM_001604	NP_001595	P26367	PAX6_HUMAN	paired box gene 6 isoform b	367	Pro/Ser/Thr-rich.				central nervous system development|eye development|gene-specific transcription from RNA polymerase II promoter|negative regulation of neurogenesis|neuron fate commitment|organ morphogenesis|pancreatic A cell development|positive regulation of gene expression|regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription activator activity|ubiquitin-protein ligase activity			ovary(2)|pancreas(1)	3	Lung SC(675;0.225)													0.052083	-10.777166	9.565578	5	91	KEEP	---	---	---	---	capture		Silent	SNP	31812340	31812340	11903	11	C	A	A	A	379	30	PAX6	2	2
WT1	7490	broad.mit.edu	37	11	32414252	32414252	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32414252A>G	uc001mtn.1	-	c.1299T>C	c.(1297-1299)TCT>TCC	p.S433S	WT1_uc001mtl.1_Silent_p.S221S|WT1_uc001mtm.1_Silent_p.S204S|WT1_uc001mto.1_Silent_p.S433S|WT1_uc001mtp.1_Silent_p.S416S|WT1_uc001mtq.1_Silent_p.S416S|WT1_uc009yjs.1_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	365	C2H2-type 2.			S -> F (in Ref. 9; AAA36810 and 10; AAB33443).	adrenal gland development|branching involved in ureteric bud morphogenesis|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male gonad development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|positive regulation of gene-specific transcription|sex determination|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|promoter binding|RNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription repressor activity|zinc ion binding	p.R433C(1)	EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(302)|soft_tissue(231)|kidney(132)|pleura(2)|peritoneum(1)|lung(1)	669	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)							684				0.089431	5.434752	26.368894	11	112	KEEP	---	---	---	---	capture		Silent	SNP	32414252	32414252	17982	11	A	G	G	G	132	11	WT1	4	4
C11orf41	25758	broad.mit.edu	37	11	33581349	33581349	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33581349A>T	uc001mup.3	+	c.3037A>T	c.(3037-3039)AAT>TAT	p.N1013Y	C11orf41_uc001mun.1_Missense_Mutation_p.N1013Y	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1007						integral to membrane				ovary(2)	2														0.104072	19.166628	53.639562	23	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33581349	33581349	1679	11	A	T	T	T	65	5	C11orf41	3	3
CAPRIN1	4076	broad.mit.edu	37	11	34118203	34118203	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34118203C>G	uc001mvh.1	+	c.1883C>G	c.(1882-1884)CCT>CGT	p.P628R	CAPRIN1_uc001mvg.2_Missense_Mutation_p.P628R|CAPRIN1_uc001mvi.2_Missense_Mutation_p.P628R|CAPRIN1_uc001mvj.1_Missense_Mutation_p.P547R	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	628					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)												0.070423	-0.38539	13.132721	5	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34118203	34118203	2754	11	C	G	G	G	312	24	CAPRIN1	3	3
LDLRAD3	143458	broad.mit.edu	37	11	36248825	36248825	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36248825G>T	uc001mwk.1	+	c.645G>T	c.(643-645)GTG>GTT	p.V215V	LDLRAD3_uc010rey.1_Silent_p.V166V|LDLRAD3_uc010rez.1_Silent_p.V94V|LDLRAD3_uc010rfa.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	215	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)												0.093333	2.978044	15.442995	7	68	KEEP	---	---	---	---	capture		Silent	SNP	36248825	36248825	9031	11	G	T	T	T	587	46	LDLRAD3	2	2
PRR5L	79899	broad.mit.edu	37	11	36424881	36424881	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36424881G>C	uc001mwo.3	+	c.198G>C	c.(196-198)GGG>GGC	p.G66G	PRR5L_uc001mwp.2_Silent_p.G66G|PRR5L_uc009ykk.2_Intron|PRR5L_uc010rfc.1_Silent_p.G66G	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	66										ovary(1)	1														0.060345	-8.458654	14.96978	7	109	KEEP	---	---	---	---	capture		Silent	SNP	36424881	36424881	13051	11	G	C	C	C	548	43	PRR5L	3	3
RAG1	5896	broad.mit.edu	37	11	36597068	36597068	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36597068G>C	uc001mwu.3	+	c.2214G>C	c.(2212-2214)CTG>CTC	p.L738L	RAG1_uc001mwt.2_Non-coding_Transcript	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	738					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4	all_lung(20;0.226)	all_hematologic(20;0.107)				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)				117				0.081967	-0.719118	31.867952	15	168	KEEP	---	---	---	---	capture		Silent	SNP	36597068	36597068	13463	11	G	C	C	C	600	47	RAG1	3	3
NUP98	4928	broad.mit.edu	37	11	3793135	3793135	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3793135C>A	uc001lyh.2	-	c.627G>T	c.(625-627)CAG>CAT	p.Q209H	NUP98_uc001lyi.2_Missense_Mutation_p.Q209H|NUP98_uc001lyj.1_Missense_Mutation_p.Q209H|NUP98_uc001lyk.1_Missense_Mutation_p.Q209H|NUP98_uc010qxv.1_Missense_Mutation_p.Q172H	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	209	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)						613				0.068376	-7.397469	15.158229	8	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3793135	3793135	11178	11	C	A	A	A	311	24	NUP98	2	2
SYT13	57586	broad.mit.edu	37	11	45265817	45265817	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45265817C>A	uc001myq.2	-	c.1067G>T	c.(1066-1068)TGG>TTG	p.W356L	SYT13_uc009yku.1_Missense_Mutation_p.W212L	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	356	C2 2.|Cytoplasmic (Potential).					transport vesicle				ovary(1)	1														0.041237	-14.22458	7.678421	4	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45265817	45265817	15990	11	C	A	A	A	273	21	SYT13	2	2
OR4B1	119765	broad.mit.edu	37	11	48238838	48238838	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48238838C>T	uc010rhs.1	+	c.477C>T	c.(475-477)CTC>CTT	p.L159L		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	159	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2														0.052469	-34.448787	34.09308	17	307	KEEP	---	---	---	---	capture		Silent	SNP	48238838	48238838	11450	11	C	T	T	T	392	31	OR4B1	1	1
OR51G2	81282	broad.mit.edu	37	11	4936138	4936138	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4936138A>G	uc001lzr.1	-	c.756T>C	c.(754-756)GCT>GCC	p.A252A		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.141892	40.073468	58.375546	21	127	KEEP	---	---	---	---	capture		Silent	SNP	4936138	4936138	11509	11	A	G	G	G	80	7	OR51G2	4	4
OR51G1	79324	broad.mit.edu	37	11	4944709	4944709	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4944709G>T	uc010qyr.1	-	c.861C>A	c.(859-861)CCC>CCA	p.P287P		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.105691	7.225599	26.21626	13	110	KEEP	---	---	---	---	capture		Silent	SNP	4944709	4944709	11508	11	G	T	T	T	548	43	OR51G1	2	2
OR4C13	283092	broad.mit.edu	37	11	49974685	49974685	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49974685C>G	uc010rhz.1	+	c.711C>G	c.(709-711)ACC>ACG	p.T237T		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	237	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.050704	-41.718369	34.218649	18	337	KEEP	---	---	---	---	capture		Silent	SNP	49974685	49974685	11453	11	C	G	G	G	301	24	OR4C13	3	3
OR4C12	283093	broad.mit.edu	37	11	50003262	50003262	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:50003262G>T	uc010ria.1	-	c.776C>A	c.(775-777)TCA>TAA	p.S259*		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.051948	-16.330954	16.369143	8	146	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50003262	50003262	11452	11	G	T	T	T	585	45	OR4C12	5	2
OR4C46	119749	broad.mit.edu	37	11	51515313	51515313	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515313T>A	uc010ric.1	+	c.32T>A	c.(31-33)GTT>GAT	p.V11D		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.145455	38.742225	58.652972	24	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51515313	51515313	11458	11	T	A	A	A	780	60	OR4C46	3	3
OR4C46	119749	broad.mit.edu	37	11	51515316	51515316	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515316T>G	uc010ric.1	+	c.35T>G	c.(34-36)TTG>TGG	p.L12W		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.168605	68.785416	86.660813	29	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51515316	51515316	11458	11	T	G	G	G	819	63	OR4C46	4	4
OR51B6	390058	broad.mit.edu	37	11	5373149	5373149	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5373149C>A	uc010qzb.1	+	c.412C>A	c.(412-414)CAG>AAG	p.Q138K	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	138	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.052632	-28.712996	31.459032	15	270	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5373149	5373149	11502	11	C	A	A	A	273	21	OR51B6	2	2
OR5D13	390142	broad.mit.edu	37	11	55541512	55541512	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55541512T>C	uc010ril.1	+	c.599T>C	c.(598-600)CTA>CCA	p.L200P		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.042254	-33.41984	30.443165	12	272	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55541512	55541512	11564	11	T	C	C	C	689	53	OR5D13	4	4
OR5D18	219438	broad.mit.edu	37	11	55587737	55587737	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55587737C>A	uc010rin.1	+	c.632C>A	c.(631-633)ACA>AAA	p.T211K		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.043478	-44.534576	27.39327	14	308	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55587737	55587737	11567	11	C	A	A	A	221	17	OR5D18	2	2
OR5D16	390144	broad.mit.edu	37	11	55606958	55606958	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55606958C>A	uc010rio.1	+	c.731C>A	c.(730-732)GCC>GAC	p.A244D		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.088816	2.425657	54.372544	27	277	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55606958	55606958	11566	11	C	A	A	A	338	26	OR5D16	2	2
SPRYD5	84767	broad.mit.edu	37	11	55655699	55655699	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55655699G>T	uc010rip.1	+	c.699G>T	c.(697-699)CTG>CTT	p.L233L	SPRYD5_uc010riq.1_Silent_p.L90L	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	233						intracellular	zinc ion binding				0		all_epithelial(135;0.226)												0.070652	-10.730075	24.501541	13	171	KEEP	---	---	---	---	capture		Silent	SNP	55655699	55655699	15625	11	G	T	T	T	574	45	SPRYD5	2	2
OR5J2	282775	broad.mit.edu	37	11	55944560	55944560	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55944560C>A	uc010rjb.1	+	c.467C>A	c.(466-468)ACA>AAA	p.T156K		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	156	Helical; Name=4; (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)													0.119718	22.099426	42.227858	17	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55944560	55944560	11575	11	C	A	A	A	221	17	OR5J2	2	2
OR5T3	390154	broad.mit.edu	37	11	56020456	56020456	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56020456G>T	uc010rjd.1	+	c.781G>T	c.(781-783)GCT>TCT	p.A261S		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	261	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.050562	-39.45506	36.764919	18	338	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56020456	56020456	11593	11	G	T	T	T	598	46	OR5T3	2	2
OR5M9	390162	broad.mit.edu	37	11	56230837	56230837	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230837C>A	uc010rjj.1	-	c.41G>T	c.(40-42)GGG>GTG	p.G14V		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.159091	11.999462	16.87041	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56230837	56230837	11587	11	C	A	A	A	286	22	OR5M9	2	2
OR5M11	219487	broad.mit.edu	37	11	56310560	56310560	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310560G>T	uc010rjl.1	-	c.174C>A	c.(172-174)CCC>CCA	p.P58P		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.072046	-12.935139	52.599142	25	322	KEEP	---	---	---	---	capture		Silent	SNP	56310560	56310560	11584	11	G	T	T	T	600	47	OR5M11	2	2
SERPING1	710	broad.mit.edu	37	11	57373895	57373895	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57373895A>C	uc009ymi.1	+	c.931A>C	c.(931-933)ACA>CCA	p.T311P	SERPING1_uc001nkp.1_Missense_Mutation_p.T302P|SERPING1_uc001nkq.1_Missense_Mutation_p.T302P|SERPING1_uc010rju.1_Missense_Mutation_p.T250P|SERPING1_uc010rjv.1_Missense_Mutation_p.T307P|SERPING1_uc001nkr.1_Missense_Mutation_p.T302P|SERPING1_uc009ymj.1_Missense_Mutation_p.T302P|SERPING1_uc001nks.1_5'UTR	NM_001032295	NP_001027466	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	302					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1														0.07177	-1.242027	38.228374	15	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57373895	57373895	14604	11	A	C	C	C	26	2	SERPING1	4	4
OR52N4	390072	broad.mit.edu	37	11	5776868	5776868	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5776868A>G	uc001mbu.2	+	c.898A>G	c.(898-900)AAA>GAA	p.K300E	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)										0.047619	-24.623017	21.131719	10	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5776868	5776868	11539	11	A	G	G	G	65	5	OR52N4	4	4
OR5B17	219965	broad.mit.edu	37	11	58126401	58126401	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58126401G>A	uc010rke.1	-	c.142C>T	c.(142-144)CTG>TTG	p.L48L		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.069182	-4.407221	26.088353	11	148	KEEP	---	---	---	---	capture		Silent	SNP	58126401	58126401	11559	11	G	A	A	A	451	35	OR5B17	2	2
GLYATL1	92292	broad.mit.edu	37	11	58723221	58723221	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58723221G>T	uc001nnh.1	+	c.723G>T	c.(721-723)ATG>ATT	p.M241I	GLYATL1_uc001nnf.2_Missense_Mutation_p.M210I|GLYATL1_uc001nni.1_Missense_Mutation_p.M210I|GLYATL1_uc001nnj.1_Missense_Mutation_p.M210I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	210						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)									0.05042	-13.847539	11.659266	6	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58723221	58723221	6748	11	G	T	T	T	598	46	GLYATL1	2	2
OR52E4	390081	broad.mit.edu	37	11	5906066	5906066	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5906066G>T	uc010qzs.1	+	c.544G>T	c.(544-546)GAG>TAG	p.E182*	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.044304	-46.531148	23.844416	14	302	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5906066	5906066	11526	11	G	T	T	T	585	45	OR52E4	5	2
OR4D10	390197	broad.mit.edu	37	11	59245562	59245562	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59245562C>A	uc001nnz.1	+	c.660C>A	c.(658-660)GTC>GTA	p.V220V		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.100719	6.335928	28.476732	14	125	KEEP	---	---	---	---	capture		Silent	SNP	59245562	59245562	11461	11	C	A	A	A	366	29	OR4D10	2	2
OSBP	5007	broad.mit.edu	37	11	59377981	59377981	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59377981G>C	uc001noc.1	-	c.444C>G	c.(442-444)AAC>AAG	p.N148K		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	148	PH.				lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)										0.066176	-4.138585	22.411022	9	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59377981	59377981	11684	11	G	C	C	C	464	36	OSBP	3	3
STX3	6809	broad.mit.edu	37	11	59559643	59559643	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59559643T>C	uc001nog.2	+	c.421T>C	c.(421-423)TTC>CTC	p.F141L	STX3_uc010rkx.1_Missense_Mutation_p.F141L|STX3_uc010rky.1_Missense_Mutation_p.F44L|STX3_uc009ymt.1_Missense_Mutation_p.F44L	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	141	Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2														0.081967	5.768097	27.451841	10	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59559643	59559643	15866	11	T	C	C	C	728	56	STX3	4	4
OR56A3	390083	broad.mit.edu	37	11	5969236	5969236	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5969236C>G	uc010qzt.1	+	c.660C>G	c.(658-660)CTC>CTG	p.L220L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	220	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.085511	19.157036	92.414098	36	385	KEEP	---	---	---	---	capture		Silent	SNP	5969236	5969236	11544	11	C	G	G	G	405	32	OR56A3	3	3
OR52L1	338751	broad.mit.edu	37	11	6007543	6007543	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6007543G>T	uc001mcd.2	-	c.618C>A	c.(616-618)GCC>GCA	p.A206A		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	206	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(121;653 1666 10547 22796 51255)								0.080247	-6.148943	22.9875	13	149	KEEP	---	---	---	---	capture		Silent	SNP	6007543	6007543	11535	11	G	T	T	T	444	35	OR52L1	2	2
MS4A14	84689	broad.mit.edu	37	11	60164087	60164087	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60164087C>T	uc001npj.2	+	c.36C>T	c.(34-36)CAC>CAT	p.H12H	MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_De_novo_Start_InFrame|MS4A14_uc001npk.2_Silent_p.H12H|MS4A14_uc001npl.2_De_novo_Start_InFrame|MS4A14_uc001npm.2_De_novo_Start_InFrame	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	12						integral to membrane	receptor activity			breast(1)	1														0.108911	10.061008	25.356852	11	90	KEEP	---	---	---	---	capture		Silent	SNP	60164087	60164087	10251	11	C	T	T	T	246	19	MS4A14	1	1
OR56A1	120796	broad.mit.edu	37	11	6048534	6048534	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6048534C>A	uc010qzw.1	-	c.401G>T	c.(400-402)TGC>TTC	p.C134F		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.072222	-7.891274	25.954123	13	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6048534	6048534	11543	11	C	A	A	A	325	25	OR56A1	2	2
SYT7	9066	broad.mit.edu	37	11	61318856	61318856	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61318856T>C	uc009ynr.2	-	c.215A>G	c.(214-216)AAT>AGT	p.N72S	SYT7_uc001nrv.2_Missense_Mutation_p.K72R|SYT7_uc001nrx.1_Non-coding_Transcript	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	72	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4														0.050938	-36.384391	43.300932	19	354	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61318856	61318856	16000	11	T	C	C	C	728	56	SYT7	4	4
AHNAK	79026	broad.mit.edu	37	11	62287345	62287345	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62287345C>T	uc001ntl.2	-	c.14544G>A	c.(14542-14544)AAG>AAA	p.K4848K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4848					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.120603	24.353263	52.46332	24	175	KEEP	---	---	---	---	capture		Silent	SNP	62287345	62287345	417	11	C	T	T	T	415	32	AHNAK	2	2
FERMT3	83706	broad.mit.edu	37	11	63974949	63974949	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63974949G>T	uc001nyl.2	+	c.113G>T	c.(112-114)GGG>GTG	p.G38V	FERMT3_uc001nym.2_Missense_Mutation_p.G38V	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	38					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1														0.074074	-2.095097	7.927365	4	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63974949	63974949	6056	11	G	T	T	T	559	43	FERMT3	2	2
SPDYC	387778	broad.mit.edu	37	11	64940196	64940196	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64940196C>A	uc010rnz.1	+	c.558C>A	c.(556-558)GAC>GAA	p.D186E		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	186	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding				0														0.064935	-5.954197	9.181357	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64940196	64940196	15538	11	C	A	A	A	233	18	SPDYC	2	2
ARFIP2	23647	broad.mit.edu	37	11	6500084	6500084	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6500084C>A	uc010ran.1	-	c.520G>T	c.(520-522)GAG>TAG	p.E174*	ARFIP2_uc001mdk.2_Nonsense_Mutation_p.E141*|ARFIP2_uc001mdl.2_Nonsense_Mutation_p.E141*|ARFIP2_uc010ral.1_Nonsense_Mutation_p.E103*|ARFIP2_uc010ram.1_Nonsense_Mutation_p.E47*|ARFIP2_uc001mdm.2_Intron|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	141	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		Melanoma(119;796 1674 9049 20480 24794)								0.089744	2.262381	15.516687	7	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6500084	6500084	866	11	C	A	A	A	377	29	ARFIP2	5	2
DRAP1	10589	broad.mit.edu	37	11	65687838	65687838	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65687838G>T	uc001ogj.1	+	c.234G>T	c.(232-234)CAG>CAT	p.Q78H	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	78					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)										0.108696	8.383011	22.342342	10	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65687838	65687838	4939	11	G	T	T	T	438	34	DRAP1	2	2
NPAS4	266743	broad.mit.edu	37	11	66191384	66191384	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66191384C>T	uc001ohx.1	+	c.1023C>T	c.(1021-1023)ACC>ACT	p.T341T	NPAS4_uc010rpc.1_Silent_p.T131T	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	341					transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.121495	35.204384	65.239949	26	188	KEEP	---	---	---	---	capture		Silent	SNP	66191384	66191384	10969	11	C	T	T	T	262	21	NPAS4	2	2
RBM14	10432	broad.mit.edu	37	11	66392039	66392039	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66392039C>T	uc001oit.2	+	c.692C>T	c.(691-693)ACG>ATG	p.T231M	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	231	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription, DNA-dependent	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription mediator activity			ovary(2)|central_nervous_system(1)	3														0.093023	1.303775	8.436706	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66392039	66392039	13576	11	C	T	T	T	247	19	RBM14	1	1
OR10A5	144124	broad.mit.edu	37	11	6867266	6867266	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6867266C>T	uc001met.1	+	c.353C>T	c.(352-354)ACC>ATC	p.T118I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		Pancreas(44;21 1072 25662 28041 45559)								0.089172	3.757663	30.497219	14	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6867266	6867266	11299	11	C	T	T	T	234	18	OR10A5	2	2
OR10A2	341276	broad.mit.edu	37	11	6891362	6891362	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6891362G>T	uc001meu.1	+	c.377G>T	c.(376-378)AGG>ATG	p.R126M		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)										0.072289	-17.275907	45.361861	24	308	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6891362	6891362	11296	11	G	T	T	T	455	35	OR10A2	2	2
ANO1	55107	broad.mit.edu	37	11	69933992	69933992	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:69933992G>A	uc001opj.2	+	c.243G>A	c.(241-243)AGG>AGA	p.R81R	ANO1_uc001opk.1_Silent_p.R53R|ANO1_uc001opl.1_Non-coding_Transcript	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	81	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2														0.307692	10.195167	10.623776	4	9	KEEP	---	---	---	---	capture		Silent	SNP	69933992	69933992	703	11	G	A	A	A	529	41	ANO1	2	2
ANO1	55107	broad.mit.edu	37	11	69972210	69972210	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:69972210G>T	uc001opj.2	+	c.1006G>T	c.(1006-1008)GGC>TGC	p.G336C	ANO1_uc001opk.1_Missense_Mutation_p.G308C|ANO1_uc001opl.1_Non-coding_Transcript|ANO1_uc010rqk.1_Missense_Mutation_p.G71C	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	336	Helical; (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2														0.152174	12.103719	17.424058	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69972210	69972210	703	11	G	T	T	T	559	43	ANO1	2	2
NLRP14	338323	broad.mit.edu	37	11	7079645	7079645	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7079645C>A	uc001mfb.1	+	c.2597C>A	c.(2596-2598)GCC>GAC	p.A866D		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	866					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.07767	-9.299054	47.075816	24	285	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7079645	7079645	10879	11	C	A	A	A	338	26	NLRP14	2	2
LRRC32	2615	broad.mit.edu	37	11	76372248	76372248	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76372248T>A	uc001oxq.3	-	c.389A>T	c.(388-390)GAC>GTC	p.D130V	LRRC32_uc001oxr.3_Missense_Mutation_p.D130V|LRRC32_uc010rsf.1_Missense_Mutation_p.D130V	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	130	Extracellular (Potential).|LRR 4.					integral to plasma membrane					0														0.072581	-6.099337	17.195267	9	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76372248	76372248	9362	11	T	A	A	A	754	58	LRRC32	3	3
OR10A6	390093	broad.mit.edu	37	11	7949838	7949838	+	Silent	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7949838A>T	uc010rbh.1	-	c.372T>A	c.(370-372)GCT>GCA	p.A124A		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.069091	-11.986631	40.825469	19	256	KEEP	---	---	---	---	capture		Silent	SNP	7949838	7949838	11300	11	A	T	T	T	80	7	OR10A6	3	3
SYTL2	54843	broad.mit.edu	37	11	85435562	85435562	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85435562C>A	uc001pbb.2	-	c.1938G>T	c.(1936-1938)AGG>AGT	p.R646S	SYTL2_uc010rtg.1_Intron|SYTL2_uc010rth.1_Intron|SYTL2_uc010rti.1_Intron|SYTL2_uc010rtj.1_Intron|SYTL2_uc009yvj.2_Non-coding_Transcript|SYTL2_uc001pbd.2_Missense_Mutation_p.R646S|SYTL2_uc001pbc.2_Missense_Mutation_p.R646S|SYTL2_uc010rtf.1_Intron	NM_206927	NP_996810	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform c	332					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)										0.035556	-38.573437	14.039944	8	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85435562	85435562	16004	11	C	A	A	A	285	22	SYTL2	2	2
TYR	7299	broad.mit.edu	37	11	88911450	88911450	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88911450C>A	uc001pcs.2	+	c.329C>A	c.(328-330)CCA>CAA	p.P110Q		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	110	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|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)									0.044843	-28.838271	20.55827	10	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88911450	88911450	17370	11	C	A	A	A	273	21	TYR	2	2
FAT3	120114	broad.mit.edu	37	11	92086419	92086419	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92086419T>A	uc001pdj.3	+	c.1141T>A	c.(1141-1143)TAC>AAC	p.Y381N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	381	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.150943	12.151671	18.37591	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92086419	92086419	5927	11	T	A	A	A	741	57	FAT3	3	3
FAT3	120114	broad.mit.edu	37	11	92086802	92086802	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92086802C>G	uc001pdj.3	+	c.1524C>G	c.(1522-1524)ACC>ACG	p.T508T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	508	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.069767	-9.776828	14.869693	9	120	KEEP	---	---	---	---	capture		Silent	SNP	92086802	92086802	5927	11	C	G	G	G	301	24	FAT3	3	3
FAT3	120114	broad.mit.edu	37	11	92087706	92087706	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92087706C>T	uc001pdj.3	+	c.2428C>T	c.(2428-2430)CAG>TAG	p.Q810*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	810	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.056338	-14.016552	15.363203	8	134	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92087706	92087706	5927	11	C	T	T	T	221	17	FAT3	5	2
FAT3	120114	broad.mit.edu	37	11	92533553	92533553	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92533553G>T	uc001pdj.3	+	c.7374G>T	c.(7372-7374)AAG>AAT	p.K2458N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2458	Cadherin 22.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.212121	44.017619	51.607908	21	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92533553	92533553	5927	11	G	T	T	T	438	34	FAT3	2	2
FAT3	120114	broad.mit.edu	37	11	92623945	92623945	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92623945G>T	uc001pdj.3	+	c.13340G>T	c.(13339-13341)AGC>ATC	p.S4447I	FAT3_uc001pdi.3_Missense_Mutation_p.S919I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4479	Pro-rich.|Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.183673	17.652766	22.249083	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92623945	92623945	5927	11	G	T	T	T	442	34	FAT3	2	2
HEPHL1	341208	broad.mit.edu	37	11	93779012	93779012	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93779012A>C	uc001pep.2	+	c.344A>C	c.(343-345)CAT>CCT	p.H115P		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	115	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.104167	19.4326	41.867706	15	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93779012	93779012	7338	11	A	C	C	C	104	8	HEPHL1	4	4
HEPHL1	341208	broad.mit.edu	37	11	93819304	93819304	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93819304G>T	uc001pep.2	+	c.2029G>T	c.(2029-2031)GCC>TCC	p.A677S		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	677	Plastocyanin-like 4.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.104167	3.752796	11.225077	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93819304	93819304	7338	11	G	T	T	T	546	42	HEPHL1	2	2
MRE11A	4361	broad.mit.edu	37	11	94153343	94153343	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94153343T>C	uc001peu.2	-	c.2075A>G	c.(2074-2076)GAT>GGT	p.D692G	MRE11A_uc001pev.2_Missense_Mutation_p.D664G|MRE11A_uc009ywj.2_Missense_Mutation_p.D695G	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	692					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(3)|lung(1)	4		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)								377				0.041667	-12.078077	9.59035	4	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94153343	94153343	10151	11	T	C	C	C	650	50	MRE11A	4	4
AMOTL1	154810	broad.mit.edu	37	11	94603863	94603863	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94603863C>A	uc001pfb.2	+	c.2774C>A	c.(2773-2775)CCT>CAT	p.P925H	AMOTL1_uc001pfc.2_Missense_Mutation_p.P875H	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	925						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)												0.103448	2.70272	7.24387	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94603863	94603863	586	11	C	A	A	A	312	24	AMOTL1	2	2
WEE1	7465	broad.mit.edu	37	11	9610100	9610100	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:9610100G>T	uc001mhs.2	+	c.1892G>T	c.(1891-1893)CGA>CTA	p.R631L	WEE1_uc001mht.2_Missense_Mutation_p.R417L	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	631					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|protein phosphorylation|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|skin(1)	4				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)						332				0.074074	-3.614211	11.488954	6	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9610100	9610100	17918	11	G	T	T	T	481	37	WEE1	1	1
NUAK1	9891	broad.mit.edu	37	12	106461547	106461547	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106461547C>A	uc001tlj.1	-	c.1019G>T	c.(1018-1020)GGG>GTG	p.G340V		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	340					protein phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2										125				0.101266	4.249859	16.777854	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106461547	106461547	11117	12	C	A	A	A	286	22	NUAK1	2	2
TAS2R14	50840	broad.mit.edu	37	12	11091043	11091043	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11091043T>A	uc010shi.1	-	c.764A>T	c.(763-765)GAA>GTA	p.E255V	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Non-coding_Transcript	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	255	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	integral to membrane	bitter taste receptor activity				0														0.130682	27.400709	50.75781	23	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11091043	11091043	16090	12	T	A	A	A	806	62	TAS2R14	3	3
CCDC63	160762	broad.mit.edu	37	12	111345221	111345221	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111345221G>A	uc001trv.1	+	c.1633G>A	c.(1633-1635)GGA>AGA	p.G545R	CCDC63_uc010sye.1_Missense_Mutation_p.G505R|CCDC63_uc001trw.1_Missense_Mutation_p.G460R	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	545										ovary(1)|pancreas(1)	2														0.056818	-7.240642	10.858015	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111345221	111345221	2957	12	G	A	A	A	507	39	CCDC63	1	1
OAS3	4940	broad.mit.edu	37	12	113403719	113403719	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113403719C>G	uc001tug.2	+	c.2574C>G	c.(2572-2574)GTC>GTG	p.V858V		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	858	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1														0.107143	4.406128	8.691626	3	25	KEEP	---	---	---	---	capture		Silent	SNP	113403719	113403719	11206	12	C	G	G	G	366	29	OAS3	3	3
KSR2	283455	broad.mit.edu	37	12	117962723	117962723	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117962723C>A	uc001two.2	-	c.2066G>T	c.(2065-2067)CGG>CTG	p.R689L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	718	Protein kinase.				intracellular signal transduction|protein phosphorylation	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(7)|central_nervous_system(2)|large_intestine(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)									623				0.102941	4.270984	14.97428	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117962723	117962723	8905	12	C	A	A	A	299	23	KSR2	1	1
GCN1L1	10985	broad.mit.edu	37	12	120572172	120572172	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120572172C>A	uc001txo.2	-	c.7240G>T	c.(7240-7242)GGA>TGA	p.G2414*		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2414					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(3)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.272727	37.291637	39.859961	15	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	120572172	120572172	6565	12	C	A	A	A	286	22	GCN1L1	5	2
HNF1A	6927	broad.mit.edu	37	12	121434482	121434482	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121434482C>A	uc010szn.1	+	c.1246C>A	c.(1246-1248)CCT>ACT	p.P416T	HNF1A_uc001tze.1_Missense_Mutation_p.P416T|HNF1A_uc001tzf.2_Missense_Mutation_p.P416T|HNF1A_uc001tzg.2_Missense_Mutation_p.P416T	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	416					glucose homeostasis|glucose import|insulin secretion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|nucleus|protein complex	DNA binding|promoter binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription activator activity			liver(91)|large_intestine(15)|endometrium(6)|breast(2)	114	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)									239				0.175	11.586517	15.598287	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121434482	121434482	7543	12	C	A	A	A	338	26	HNF1A	2	2
DNAH10	196385	broad.mit.edu	37	12	124350561	124350561	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124350561C>A	uc001uft.3	+	c.6754C>A	c.(6754-6756)CCT>ACT	p.P2252T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2252	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)										0.248521	92.738632	102.418883	42	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124350561	124350561	4780	12	C	A	A	A	390	30	DNAH10	2	2
TMEM132B	114795	broad.mit.edu	37	12	126138332	126138332	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126138332G>T	uc001uhe.1	+	c.2313G>T	c.(2311-2313)AAG>AAT	p.K771N	TMEM132B_uc001uhf.1_Missense_Mutation_p.K283N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	771	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	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)										0.05	-20.340674	14.042816	8	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126138332	126138332	16577	12	G	T	T	T	425	33	TMEM132B	2	2
GPR133	283383	broad.mit.edu	37	12	131471658	131471658	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:131471658T>C	uc010tbm.1	+	c.605T>C	c.(604-606)GTC>GCC	p.V202A	GPR133_uc001uit.3_Missense_Mutation_p.V170A	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	170	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)										0.136364	14.331754	22.787957	9	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131471658	131471658	6917	12	T	C	C	C	754	58	GPR133	4	4
GOLGA3	2802	broad.mit.edu	37	12	133381374	133381374	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133381374C>T	uc001ukz.1	-	c.1525G>A	c.(1525-1527)GAG>AAG	p.E509K	GOLGA3_uc001ula.1_Missense_Mutation_p.E509K|GOLGA3_uc001ulb.2_Missense_Mutation_p.E509K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	509	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)										0.145161	13.935086	21.446673	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133381374	133381374	6823	12	C	T	T	T	403	31	GOLGA3	1	1
GUCY2C	2984	broad.mit.edu	37	12	14781651	14781651	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:14781651G>T	uc001rcd.2	-	c.2178C>A	c.(2176-2178)AAC>AAA	p.N726K		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	726	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|protein phosphorylation|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(1)	5										889				0.04918	-21.548011	17.938338	9	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14781651	14781651	7176	12	G	T	T	T	464	36	GUCY2C	2	2
STRAP	11171	broad.mit.edu	37	12	16043573	16043573	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:16043573C>T	uc010shw.1	+	c.412C>T	c.(412-414)CGC>TGC	p.R138C	STRAP_uc001rdc.3_Missense_Mutation_p.R125C|STRAP_uc001rdd.3_Missense_Mutation_p.R31C	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	125	WD 3.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding				0		Hepatocellular(102;0.121)												0.246835	98.958947	108.168966	39	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16043573	16043573	15846	12	C	T	T	T	247	19	STRAP	1	1
PDE3A	5139	broad.mit.edu	37	12	20806953	20806953	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20806953C>A	uc001reh.1	+	c.2998C>A	c.(2998-3000)CTT>ATT	p.L1000I		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	1000	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)	3	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)									0.207143	61.25401	72.437957	29	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20806953	20806953	12058	12	C	A	A	A	312	24	PDE3A	2	2
KCNJ8	3764	broad.mit.edu	37	12	21926524	21926524	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21926524C>T	uc001rff.2	-	c.27G>A	c.(25-27)CCG>CCA	p.P9P		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	9	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)							OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.068182	-7.174552	35.191233	15	205	KEEP	---	---	---	---	capture		Silent	SNP	21926524	21926524	8361	12	C	T	T	T	288	23	KCNJ8	1	1
LYRM5	144363	broad.mit.edu	37	12	25357145	25357145	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25357145C>T	uc001rgn.2	+	c.172C>T	c.(172-174)CAG>TAG	p.Q58*	LYRM5_uc001rgo.2_Nonsense_Mutation_p.Q56*	NM_001001660	NP_001001660	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	56											0	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)											0.061224	-8.134446	11.57026	6	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25357145	25357145	9499	12	C	T	T	T	221	17	LYRM5	5	2
ITPR2	3709	broad.mit.edu	37	12	26749952	26749952	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26749952G>C	uc001rhg.2	-	c.4118C>G	c.(4117-4119)GCC>GGC	p.A1373G		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1373	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.07381	-18.553113	60.351543	31	389	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26749952	26749952	8225	12	G	C	C	C	546	42	ITPR2	3	3
ITFG2	55846	broad.mit.edu	37	12	2930910	2930910	+	Silent	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2930910A>T	uc001qlb.1	+	c.900A>T	c.(898-900)TCA>TCT	p.S300S	ITFG2_uc010seb.1_Silent_p.S123S|ITFG2_uc010sec.1_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	300											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)											0.145729	99.997563	148.030359	58	340	KEEP	---	---	---	---	capture		Silent	SNP	2930910	2930910	8174	12	A	T	T	T	80	7	ITFG2	3	3
PKP2	5318	broad.mit.edu	37	12	32975561	32975561	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32975561G>A	uc001rlj.3	-	c.1811C>T	c.(1810-1812)ACG>ATG	p.T604M	PKP2_uc001rlk.3_Missense_Mutation_p.T560M|PKP2_uc010skj.1_Missense_Mutation_p.T560M	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	604	ARM 4.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.069444	-2.884731	10.904059	5	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32975561	32975561	12410	12	G	A	A	A	520	40	PKP2	1	1
SYT10	341359	broad.mit.edu	37	12	33579224	33579224	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33579224C>G	uc001rll.1	-	c.358G>C	c.(358-360)GAA>CAA	p.E120Q	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	120	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.034483	-45.710269	22.689496	10	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33579224	33579224	15987	12	C	G	G	G	377	29	SYT10	3	3
ALG10B	144245	broad.mit.edu	37	12	38712250	38712250	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:38712250C>A	uc001rln.3	+	c.359C>A	c.(358-360)CCC>CAC	p.P120H	ALG10B_uc001rlo.3_Missense_Mutation_p.P90H|ALG10B_uc010skk.1_Missense_Mutation_p.P60H	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	120	Extracellular (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)	2	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)												0.088235	0.49629	23.818048	12	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38712250	38712250	515	12	C	A	A	A	286	22	ALG10B	2	2
KDM5A	5927	broad.mit.edu	37	12	432318	432318	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:432318C>A	uc001qif.1	-	c.2205G>T	c.(2203-2205)AGG>AGT	p.R735S	KDM5A_uc001qie.1_Missense_Mutation_p.R735S|KDM5A_uc010sdn.1_Missense_Mutation_p.R694S	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	735					chromatin modification|multicellular organismal development|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			skin(2)|ovary(1)	3										958				0.105634	8.612882	30.577298	15	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	432318	432318	8439	12	C	A	A	A	285	22	KDM5A	2	2
FGF23	8074	broad.mit.edu	37	12	4479598	4479598	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4479598G>A	uc001qmq.1	-	c.667C>T	c.(667-669)CCA>TCA	p.P223S		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	223					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|skin(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)											0.111111	7.279467	16.700037	7	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4479598	4479598	6089	12	G	A	A	A	559	43	FGF23	2	2
ANO6	196527	broad.mit.edu	37	12	45822988	45822988	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45822988A>T	uc010slf.1	+	c.2690A>T	c.(2689-2691)AAG>ATG	p.K897M	ANO6_uc001roo.2_Missense_Mutation_p.K876M|ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slg.1_Missense_Mutation_p.K858M	NM_001142678	NP_001136150	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform b	876	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2														0.252101	73.191171	79.835437	30	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45822988	45822988	709	12	A	T	T	T	39	3	ANO6	3	3
ARID2	196528	broad.mit.edu	37	12	46230774	46230774	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46230774G>T	uc001ros.1	+	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D	ARID2_uc001ror.2_Missense_Mutation_p.E341D|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	341					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(1)	7	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)										0.172932	47.33837	60.778539	23	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46230774	46230774	930	12	G	T	T	T	451	35	ARID2	2	2
DYRK4	8798	broad.mit.edu	37	12	4708299	4708299	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4708299G>T	uc009zeh.1	+	c.1011G>T	c.(1009-1011)TCG>TCT	p.S337S	DYRK4_uc001qmx.2_Silent_p.S222S|DYRK4_uc001qmy.1_Silent_p.S222S	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	222	Protein kinase.				protein phosphorylation	Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2			Colorectal(7;0.103)						p.S337S(UMUC1-Tumor)|p.S337S(HCC1500-Tumor)	294				0.051813	-20.697903	20.30745	10	183	KEEP	---	---	---	---	capture		Silent	SNP	4708299	4708299	5044	12	G	T	T	T	496	39	DYRK4	1	1
DDX23	9416	broad.mit.edu	37	12	49237828	49237828	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49237828C>A	uc001rsm.2	-	c.215G>T	c.(214-216)CGA>CTA	p.R72L		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	72	Arg-rich.				cis assembly of pre-catalytic spliceosome	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)	5														0.08	3.974476	39.930475	16	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49237828	49237828	4521	12	C	A	A	A	403	31	DDX23	1	1
KCNA1	3736	broad.mit.edu	37	12	5021276	5021276	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5021276C>A	uc001qnh.2	+	c.732C>A	c.(730-732)CCC>CCA	p.P244P		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	244					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)	1					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.037037	-21.379166	9.908487	5	130	KEEP	---	---	---	---	capture		Silent	SNP	5021276	5021276	8306	12	C	A	A	A	262	21	KCNA1	2	2
KCNA5	3741	broad.mit.edu	37	12	5153719	5153719	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5153719G>T	uc001qni.2	+	c.406G>T	c.(406-408)GGC>TGC	p.G136C		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	136						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4														0.190476	15.995321	19.742841	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5153719	5153719	8311	12	G	T	T	T	559	43	KCNA5	2	2
SLC4A8	9498	broad.mit.edu	37	12	51852413	51852413	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51852413T>A	uc001rys.1	+	c.834T>A	c.(832-834)CAT>CAA	p.H278Q	SLC4A8_uc010sni.1_Missense_Mutation_p.H225Q|SLC4A8_uc001rym.2_Missense_Mutation_p.H225Q|SLC4A8_uc001ryn.2_Missense_Mutation_p.H225Q|SLC4A8_uc001ryo.2_Missense_Mutation_p.H225Q|SLC4A8_uc001ryp.1_Missense_Mutation_p.H225Q|SLC4A8_uc010snj.1_Missense_Mutation_p.H305Q|SLC4A8_uc001ryq.3_Missense_Mutation_p.H278Q|SLC4A8_uc001ryr.2_Missense_Mutation_p.H278Q|SLC4A8_uc010snk.1_Missense_Mutation_p.H225Q	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	278	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.15)										0.042813	-47.291784	26.014463	14	313	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51852413	51852413	15156	12	T	A	A	A	634	49	SLC4A8	3	3
NTF3	4908	broad.mit.edu	37	12	5603743	5603743	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5603743G>A	uc001qnk.3	+	c.402G>A	c.(400-402)GAG>GAA	p.E134E	NTF3_uc001qnl.3_Silent_p.E121E	NM_001102654	NP_001096124	P20783	NTF3_HUMAN	neurotrophin 3 isoform 1 preproprotein	121					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						GBM(194;1104 2182 8339 9578 18493)								0.037037	-24.884116	12.725184	6	156	KEEP	---	---	---	---	capture		Silent	SNP	5603743	5603743	11101	12	G	A	A	A	451	35	NTF3	2	2
NTF3	4908	broad.mit.edu	37	12	5604132	5604132	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5604132C>G	uc001qnk.3	+	c.791C>G	c.(790-792)TCG>TGG	p.S264W	NTF3_uc001qnl.3_Missense_Mutation_p.S251W	NM_001102654	NP_001096124	P20783	NTF3_HUMAN	neurotrophin 3 isoform 1 preproprotein	251					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						GBM(194;1104 2182 8339 9578 18493)								0.090909	4.706167	15.833508	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5604132	5604132	11101	12	C	G	G	G	403	31	NTF3	3	3
MBD6	114785	broad.mit.edu	37	12	57920459	57920459	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57920459C>G	uc001soj.1	+	c.1531C>G	c.(1531-1533)CCC>GCC	p.P511A	MBD6_uc001sok.1_Missense_Mutation_p.P378A|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	511	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4														0.072727	0.785185	11.086352	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57920459	57920459	9736	12	C	G	G	G	390	30	MBD6	3	3
DPY19L2	283417	broad.mit.edu	37	12	64020297	64020297	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64020297T>G	uc001srp.1	-	c.813A>C	c.(811-813)CAA>CAC	p.Q271H	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	271	Helical; (Potential).				multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)	1			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)										0.075	0.531936	7.908167	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64020297	64020297	4925	12	T	G	G	G	777	60	DPY19L2	4	4
WIF1	11197	broad.mit.edu	37	12	65462665	65462665	+	Silent	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:65462665T>A	uc001ssk.2	-	c.417A>T	c.(415-417)CCA>CCT	p.P139P		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	139	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)	3			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		Esophageal Squamous(148;1595 1816 48559 49439 49664)				284				0.089286	10.613987	39.211118	15	153	KEEP	---	---	---	---	capture		Silent	SNP	65462665	65462665	17940	12	T	A	A	A	652	51	WIF1	3	3
FRS2	10818	broad.mit.edu	37	12	69965981	69965981	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69965981A>T	uc001suy.2	+	c.496A>T	c.(496-498)AGA>TGA	p.R166*	FRS2_uc001suz.2_Nonsense_Mutation_p.R166*|FRS2_uc009zrj.2_Nonsense_Mutation_p.R166*|FRS2_uc009zrk.2_Nonsense_Mutation_p.R166*	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	166					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			kidney(1)	1	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)							103				0.040541	-21.56759	12.067679	6	142	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69965981	69965981	6311	12	A	T	T	T	88	7	FRS2	5	3
PTPRB	5787	broad.mit.edu	37	12	71002981	71002981	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71002981C>A	uc001swc.3	-	c.847G>T	c.(847-849)GCC>TCC	p.A283S	PTPRB_uc001swb.3_Missense_Mutation_p.A65S|PTPRB_uc010sto.1_Missense_Mutation_p.A65S|PTPRB_uc010stp.1_Missense_Mutation_p.A65S|PTPRB_uc001swa.3_Missense_Mutation_p.A283S|PTPRB_uc001swd.3_Missense_Mutation_p.A282S|PTPRB_uc009zrr.1_Missense_Mutation_p.A162S|PTPRB_uc001swe.2_Missense_Mutation_p.A283S	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	65	Fibronectin type-III 1.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.108434	5.237017	17.8497	9	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71002981	71002981	13253	12	C	A	A	A	338	26	PTPRB	2	2
LGR5	8549	broad.mit.edu	37	12	71928963	71928963	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71928963C>T	uc001swl.2	+	c.425C>T	c.(424-426)TCC>TTC	p.S142F	LGR5_uc001swm.2_Missense_Mutation_p.S142F|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	142	LRR 4.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.140741	55.300312	89.08973	38	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71928963	71928963	9083	12	C	T	T	T	390	30	LGR5	2	2
CD163L1	283316	broad.mit.edu	37	12	7559427	7559427	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7559427C>A	uc010sge.1	-	c.818G>T	c.(817-819)AGG>ATG	p.R273M	CD163L1_uc001qsy.2_Missense_Mutation_p.R263M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	263	SRCR 3.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.127168	28.220864	51.684177	22	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7559427	7559427	3095	12	C	A	A	A	312	24	CD163L1	2	2
CD163	9332	broad.mit.edu	37	12	7656250	7656250	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7656250C>G	uc001qsz.3	-	c.37G>C	c.(37-39)GGA>CGA	p.G13R	CD163_uc001qta.3_Missense_Mutation_p.G13R|CD163_uc009zfw.2_Missense_Mutation_p.G13R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	13					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8														0.044025	-20.655602	14.686372	7	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7656250	7656250	3094	12	C	G	G	G	273	21	CD163	3	3
NAV3	89795	broad.mit.edu	37	12	78444651	78444651	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78444651C>G	uc001syp.2	+	c.2240C>G	c.(2239-2241)GCA>GGA	p.A747G	NAV3_uc001syo.2_Missense_Mutation_p.A747G|NAV3_uc010sub.1_Missense_Mutation_p.A247G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	747						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.051546	-8.308407	12.334849	5	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78444651	78444651	10581	12	C	G	G	G	325	25	NAV3	3	3
MYF6	4618	broad.mit.edu	37	12	81102623	81102623	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81102623G>A	uc001szf.1	+	c.613G>A	c.(613-615)GGA>AGA	p.G205R		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	205					muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(1)	1														0.047619	-16.596576	15.424966	7	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81102623	81102623	10423	12	G	A	A	A	455	35	MYF6	2	2
EEA1	8411	broad.mit.edu	37	12	93226317	93226317	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:93226317C>A	uc001tck.2	-	c.1225G>T	c.(1225-1227)GGG>TGG	p.G409W		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	409	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)	2														0.149457	99.541438	142.861893	55	313	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93226317	93226317	5108	12	C	A	A	A	273	21	EEA1	2	2
PZP	5858	broad.mit.edu	37	12	9356495	9356495	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9356495C>T	uc001qvl.2	-	c.136G>A	c.(136-138)GGC>AGC	p.G46S	PZP_uc009zgl.2_5'UTR	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.059701	-14.895461	25.802339	12	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9356495	9356495	13327	12	C	T	T	T	286	22	PZP	2	2
PCCA	5095	broad.mit.edu	37	13	100807337	100807337	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100807337G>C	uc001voo.2	+	c.405G>C	c.(403-405)AGG>AGC	p.R135S	PCCA_uc010aga.2_Missense_Mutation_p.R109S|PCCA_uc010tiz.1_Missense_Mutation_p.R135S	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	135	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)									0.125	10.789281	21.791368	10	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100807337	100807337	11924	13	G	C	C	C	555	43	PCCA	3	3
ERCC5	2073	broad.mit.edu	37	13	103514784	103514784	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103514784G>T	uc001vpu.1	+	c.2647G>T	c.(2647-2649)GAT>TAT	p.D883Y	ERCC5_uc010tjb.1_Missense_Mutation_p.D429Y|ERCC5_uc001vpw.2_Missense_Mutation_p.D429Y|ERCC5_uc010tjc.1_Non-coding_Transcript|ERCC5_uc010tjd.1_Missense_Mutation_p.D261Y	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	429					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|central_nervous_system(1)	5	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)									463				0.076923	-3.731607	17.753362	9	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103514784	103514784	5409	13	G	T	T	T	585	45	ERCC5	2	2
FAM70B	348013	broad.mit.edu	37	13	114514724	114514724	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114514724C>A	uc001vuh.2	+	c.829C>A	c.(829-831)CCA>ACA	p.P277T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	277	Pro-rich.					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)											0.137931	6.681363	10.356999	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114514724	114514724	5829	13	C	A	A	A	286	22	FAM70B	2	2
TUBA3C	7278	broad.mit.edu	37	13	19751382	19751383	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:19751382_19751383GG>AT	uc009zzj.2	-	c.740_741CC>AT	c.(739-741)GCC>GAT	p.A247D		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	247					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)										0.078261	-3.594222	17.305405	9	106	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	19751382	19751383	17301	13	GG	AT	AT	AT	548	43	TUBA3C	2	2
PSPC1	55269	broad.mit.edu	37	13	20333521	20333521	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:20333521A>G	uc001uml.2	-	c.712T>C	c.(712-714)TTT>CTT	p.F238L	PSPC1_uc001umj.1_Non-coding_Transcript|PSPC1_uc001umk.1_Non-coding_Transcript	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	238	Sufficient for perinucleolar caps localization and interaction with NONO.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)										0.047619	-10.412302	12.458383	5	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20333521	20333521	13170	13	A	G	G	G	26	2	PSPC1	4	4
FLT1	2321	broad.mit.edu	37	13	28886159	28886159	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28886159C>A	uc001usb.3	-	c.3463G>T	c.(3463-3465)GGT>TGT	p.G1155C	FLT1_uc010aap.2_Missense_Mutation_p.G160C|FLT1_uc010aaq.2_Missense_Mutation_p.G280C|FLT1_uc001usa.3_Missense_Mutation_p.G373C	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1155	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.065421	-6.25493	14.725009	7	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28886159	28886159	6183	13	C	A	A	A	312	24	FLT1	2	2
FRY	10129	broad.mit.edu	37	13	32839660	32839660	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32839660C>A	uc001utx.2	+	c.7853C>A	c.(7852-7854)CCA>CAA	p.P2618Q	FRY_uc010tdw.1_Non-coding_Transcript|FRY_uc001uty.2_Missense_Mutation_p.P173Q|FRY_uc001utz.2_Missense_Mutation_p.P143Q|FRY_uc010tdx.1_5'UTR	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)										0.149425	22.213463	32.472245	13	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32839660	32839660	6313	13	C	A	A	A	273	21	FRY	2	2
STOML3	161003	broad.mit.edu	37	13	39564834	39564834	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:39564834C>A	uc001uwx.2	-	c.25G>T	c.(25-27)GAG>TAG	p.E9*	STOML3_uc010tez.1_5'UTR	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	9						integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)										0.057377	-11.683445	13.41921	7	115	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39564834	39564834	15835	13	C	A	A	A	377	29	STOML3	5	2
KIAA0564	23078	broad.mit.edu	37	13	42161647	42161647	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:42161647C>G	uc001uyj.2	-	c.5271_splice	c.e42+1	p.Q1757_splice		NM_015058	NP_055873			hypothetical protein LOC23078 isoform a							extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)	5		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)										0.05303	-10.082474	17.758873	7	125	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42161647	42161647	8492	13	C	G	G	G	234	18	KIAA0564	5	3
RCBTB1	55213	broad.mit.edu	37	13	50129684	50129684	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:50129684C>A	uc001vde.1	-	c.570G>T	c.(568-570)CAG>CAT	p.Q190H		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	190	RCC1 3.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)										0.121212	13.060523	26.958279	12	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50129684	50129684	13640	13	C	A	A	A	415	32	RCBTB1	2	2
PCDH17	27253	broad.mit.edu	37	13	58209199	58209199	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58209199G>A	uc001vhq.1	+	c.2519G>A	c.(2518-2520)GGG>GAG	p.G840E	PCDH17_uc010aec.1_Missense_Mutation_p.G840E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	840	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.1875	10.830624	13.758478	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58209199	58209199	11932	13	G	A	A	A	559	43	PCDH17	2	2
DIAPH3	81624	broad.mit.edu	37	13	60616851	60616851	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:60616851C>T	uc001vht.2	-	c.599G>A	c.(598-600)CGA>CAA	p.R200Q	DIAPH3_uc001vhw.1_Missense_Mutation_p.R189Q|DIAPH3_uc010aed.1_Missense_Mutation_p.R154Q|DIAPH3_uc010aee.1_Missense_Mutation_p.R130Q	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	200	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)										0.092593	2.532479	11.554097	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60616851	60616851	4699	13	C	T	T	T	403	31	DIAPH3	1	1
HHIPL1	84439	broad.mit.edu	37	14	100118680	100118680	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100118680G>T	uc010avs.2	+	c.375G>T	c.(373-375)CTG>CTT	p.L125L	HHIPL1_uc001ygl.1_Silent_p.L125L	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	125					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity				0		Melanoma(154;0.128)												0.150538	23.682695	34.580577	14	79	KEEP	---	---	---	---	capture		Silent	SNP	100118680	100118680	7377	14	G	T	T	T	613	48	HHIPL1	2	2
EML1	2009	broad.mit.edu	37	14	100367277	100367277	+	Silent	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100367277A>T	uc001ygr.2	+	c.966A>T	c.(964-966)CCA>CCT	p.P322P	EML1_uc010avt.1_Silent_p.P290P|EML1_uc010tww.1_Silent_p.P291P|EML1_uc001ygq.2_Silent_p.P322P|EML1_uc001ygs.2_Silent_p.P303P	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	303	WD 1.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|ovary(1)|pancreas(1)	4		Melanoma(154;0.0879)|all_epithelial(191;0.216)												0.086364	9.987932	48.082381	19	201	KEEP	---	---	---	---	capture		Silent	SNP	100367277	100367277	5288	14	A	T	T	T	67	6	EML1	3	3
WARS	7453	broad.mit.edu	37	14	100820854	100820854	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100820854G>C	uc001yhf.1	-	c.472C>G	c.(472-474)CTG>GTG	p.L158V	WARS_uc001yhe.1_5'Flank|WARS_uc001yhg.1_Missense_Mutation_p.L158V|WARS_uc001yhh.1_Missense_Mutation_p.L158V|WARS_uc001yhi.1_Missense_Mutation_p.L117V|WARS_uc001yhj.1_Missense_Mutation_p.L117V|WARS_uc001yhk.1_Missense_Mutation_p.L117V|WARS_uc001yhl.1_Missense_Mutation_p.L158V|WARS_uc010twz.1_Missense_Mutation_p.L158V	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	158					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)									0.084416	8.258316	35.258054	13	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100820854	100820854	17821	14	G	C	C	C	425	33	WARS	3	3
OR4K1	79544	broad.mit.edu	37	14	20403887	20403887	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20403887G>C	uc001vwj.1	+	c.62G>C	c.(61-63)TGG>TCG	p.W21S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.036496	-91.5919	36.123247	20	528	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20403887	20403887	11477	14	G	C	C	C	611	47	OR4K1	3	3
OR4K1	79544	broad.mit.edu	37	14	20404642	20404642	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20404642G>C	uc001vwj.1	+	c.817G>C	c.(817-819)GTG>CTG	p.V273L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.040486	-31.964166	24.19962	10	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20404642	20404642	11477	14	G	C	C	C	624	48	OR4K1	3	3
OR4N5	390437	broad.mit.edu	37	14	20611948	20611948	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20611948C>A	uc010tla.1	+	c.54C>A	c.(52-54)ACC>ACA	p.T18T		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)										0.068106	-29.236501	86.802442	41	561	KEEP	---	---	---	---	capture		Silent	SNP	20611948	20611948	11489	14	C	A	A	A	275	22	OR4N5	2	2
OR4N5	390437	broad.mit.edu	37	14	20612474	20612474	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20612474G>T	uc010tla.1	+	c.580G>T	c.(580-582)GTG>TTG	p.V194L		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)										0.107317	23.702879	55.060644	22	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20612474	20612474	11489	14	G	T	T	T	624	48	OR4N5	2	2
RNASE10	338879	broad.mit.edu	37	14	20978831	20978831	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20978831G>T	uc001vxp.2	+	c.285G>T	c.(283-285)ACG>ACT	p.T95T	RNASE10_uc010tlj.1_Silent_p.T67T	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	67						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)										0.074074	-2.877692	17.240533	8	100	KEEP	---	---	---	---	capture		Silent	SNP	20978831	20978831	13877	14	G	T	T	T	483	38	RNASE10	1	1
RNF31	55072	broad.mit.edu	37	14	24621044	24621044	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24621044G>T	uc001wmn.1	+	c.1973G>T	c.(1972-1974)CGG>CTG	p.R658L	RNF31_uc001wml.1_Missense_Mutation_p.R507L|RNF31_uc001wmm.1_Non-coding_Transcript|RNF31_uc010alg.1_Missense_Mutation_p.R417L|RNF31_uc001wmo.1_Missense_Mutation_p.R125L|RNF31_uc001wmp.2_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	658					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)										0.048	-14.815248	12.317785	6	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24621044	24621044	13966	14	G	T	T	T	507	39	RNF31	1	1
IRF9	10379	broad.mit.edu	37	14	24633877	24633877	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24633877A>G	uc001wmq.2	+	c.704A>G	c.(703-705)CAG>CGG	p.Q235R	RNF31_uc001wmp.2_Non-coding_Transcript|IRF9_uc010alj.2_Intron	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	235					interferon-gamma-mediated signaling pathway|regulation of transcription, DNA-dependent|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)										0.037736	-76.841581	33.432152	18	459	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24633877	24633877	8140	14	A	G	G	G	91	7	IRF9	4	4
RIPK3	11035	broad.mit.edu	37	14	24808382	24808382	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24808382C>A	uc001wpb.2	-	c.310G>T	c.(310-312)GGG>TGG	p.G104W	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_Non-coding_Transcript|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.G104W	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	104	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|protein phosphorylation	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		Pancreas(58;918 1191 4668 13304 15331)				120				0.121622	9.923457	20.306419	9	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24808382	24808382	13859	14	C	A	A	A	286	22	RIPK3	2	2
NYNRIN	57523	broad.mit.edu	37	14	24878209	24878209	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24878209G>A	uc001wpf.3	+	c.1209G>A	c.(1207-1209)AAG>AAA	p.K403K		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	403					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.102564	3.678673	9.810443	4	35	KEEP	---	---	---	---	capture		Silent	SNP	24878209	24878209	11201	14	G	A	A	A	438	34	NYNRIN	2	2
EGLN3	112399	broad.mit.edu	37	14	34400394	34400394	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:34400394C>A	uc001wsa.3	-	c.385G>T	c.(385-387)GGA>TGA	p.G129*	EGLN3_uc001wry.2_Nonsense_Mutation_p.G35*|EGLN3_uc001wrz.2_Nonsense_Mutation_p.G129*	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	egl nine homolog 3	129	Fe2OG dioxygenase.				apoptosis|oxidation-reduction process	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding				0	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	Esophageal Squamous(161;245 1904 13895 22565 30076)								0.148936	34.435951	51.065642	21	120	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34400394	34400394	5159	14	C	A	A	A	273	21	EGLN3	5	2
CLEC14A	161198	broad.mit.edu	37	14	38724497	38724497	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:38724497C>T	uc001wum.1	-	c.731G>A	c.(730-732)TGT>TAT	p.C244Y		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	244	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)	3	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)										0.045564	-60.421663	31.503221	19	398	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38724497	38724497	3636	14	C	T	T	T	221	17	CLEC14A	2	2
FSCB	84075	broad.mit.edu	37	14	44975660	44975660	+	Silent	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975660T>C	uc001wvn.2	-	c.531A>G	c.(529-531)TCA>TCG	p.S177S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	177						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.111399	50.652746	108.264234	43	343	KEEP	---	---	---	---	capture		Silent	SNP	44975660	44975660	6316	14	T	C	C	C	808	63	FSCB	4	4
PYGL	5836	broad.mit.edu	37	14	51383717	51383717	+	Missense_Mutation	SNP	C	A	A	rs116465563	by1000genomes	TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51383717C>A	uc001wyu.2	-	c.962G>T	c.(961-963)CGT>CTT	p.R321L	PYGL_uc010tqq.1_Missense_Mutation_p.R287L|PYGL_uc001wyv.2_5'UTR|PYGL_uc010anz.1_Missense_Mutation_p.R124L	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	321					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding				0	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)									0.066038	-4.759673	15.946455	7	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51383717	51383717	13319	14	C	A	A	A	247	19	PYGL	1	1
DCAF5	8816	broad.mit.edu	37	14	69521853	69521853	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69521853C>A	uc001xkp.2	-	c.1550G>T	c.(1549-1551)CGG>CTG	p.R517L	DCAF5_uc001xkq.2_Missense_Mutation_p.R516L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	517					protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2														0.109756	4.837262	17.2168	9	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69521853	69521853	4444	14	C	A	A	A	299	23	DCAF5	1	1
SIPA1L1	26037	broad.mit.edu	37	14	72190515	72190515	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72190515C>T	uc001xms.2	+	c.4423C>T	c.(4423-4425)CCT>TCT	p.P1475S	SIPA1L1_uc001xmt.2_Missense_Mutation_p.P1454S|SIPA1L1_uc001xmu.2_Missense_Mutation_p.P1454S|SIPA1L1_uc001xmv.2_Missense_Mutation_p.P1475S|SIPA1L1_uc010ttm.1_Missense_Mutation_p.P929S|SIPA1L1_uc001xmw.2_Missense_Mutation_p.P240S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1475	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.036364	-52.276264	24.561584	12	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72190515	72190515	14824	14	C	T	T	T	286	22	SIPA1L1	2	2
ISM2	145501	broad.mit.edu	37	14	77944654	77944655	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77944654_77944655CC>AA	uc001xtz.2	-	c.1128_1129GG>TT	c.(1126-1131)AAGGAC>AATTAC	p.376_377KD>NY	ISM2_uc001xua.2_Missense_Mutation_p.R261I|ISM2_uc001xty.2_Missense_Mutation_p.288_289KD>NY|ISM2_uc010tvl.1_Missense_Mutation_p.295_296KD>NY	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	376_377						extracellular region					0														0.079137	-0.630579	24.461041	11	128	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	77944654	77944655	8165	14	CC	AA	AA	AA	390	30	ISM2	2	2
NRXN3	9369	broad.mit.edu	37	14	79181165	79181165	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:79181165T>A	uc001xun.2	+	c.608T>A	c.(607-609)CTG>CAG	p.L203Q	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.L337Q	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	576	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.058824	-10.143989	21.036849	9	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79181165	79181165	11072	14	T	A	A	A	715	55	NRXN3	3	3
STON2	85439	broad.mit.edu	37	14	81743375	81743375	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81743375C>A	uc001xvk.1	-	c.2280G>T	c.(2278-2280)GGG>GGT	p.G760G	STON2_uc010tvu.1_Silent_p.G760G|STON2_uc010tvt.1_Silent_p.G557G	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	760	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0348)										0.136364	22.848928	39.776632	18	114	KEEP	---	---	---	---	capture		Silent	SNP	81743375	81743375	15838	14	C	A	A	A	275	22	STON2	2	2
C14orf102	55051	broad.mit.edu	37	14	90754624	90754624	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90754624T>A	uc001xyi.1	-	c.3095A>T	c.(3094-3096)GAG>GTG	p.E1032V	C14orf102_uc010atp.1_Missense_Mutation_p.E537V|C14orf102_uc001xyj.1_Missense_Mutation_p.E801V|C14orf102_uc001xyk.1_Missense_Mutation_p.E224V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	1032							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)										0.19697	27.645741	33.285697	13	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90754624	90754624	1783	14	T	A	A	A	702	54	C14orf102	3	3
COX8C	341947	broad.mit.edu	37	14	93814419	93814419	+	Missense_Mutation	SNP	C	G	G	rs113042438		TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93814419C>G	uc001ybt.1	+	c.172C>G	c.(172-174)CCA>GCA	p.P58A	KIAA1409_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIc	58	Helical; (By similarity).					integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GBM(134;630 1800 8342 13106 15419)								0.116564	30.240912	53.789096	19	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93814419	93814419	3924	14	C	G	G	G	234	18	COX8C	3	3
ASB2	51676	broad.mit.edu	37	14	94420762	94420762	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94420762C>T	uc001ycd.2	-	c.379G>A	c.(379-381)GAA>AAA	p.E127K	ASB2_uc001ycc.1_Missense_Mutation_p.E79K|ASB2_uc001yce.1_Missense_Mutation_p.E25K	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	79	ANK 1.				intracellular signal transduction					pancreas(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)										0.111111	6.609442	14.684428	6	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94420762	94420762	1041	14	C	T	T	T	390	30	ASB2	2	2
PPP4R4	57718	broad.mit.edu	37	14	94716613	94716613	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94716613A>T	uc001ycs.1	+	c.1716A>T	c.(1714-1716)GAA>GAT	p.E572D		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	572						cytoplasm|protein serine/threonine phosphatase complex	protein binding				0														0.070423	-2.178981	11.33499	5	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94716613	94716613	12841	14	A	T	T	T	24	2	PPP4R4	3	3
SERPINA10	51156	broad.mit.edu	37	14	94756290	94756290	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94756290C>G	uc001yct.2	-	c.641G>C	c.(640-642)CGG>CCG	p.R214P	SERPINA10_uc001ycu.3_Missense_Mutation_p.R214P	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	214					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)										0.069149	-8.728257	27.294187	13	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94756290	94756290	14575	14	C	G	G	G	299	23	SERPINA10	3	3
DICER1	23405	broad.mit.edu	37	14	95570155	95570155	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95570155T>C	uc001ydw.2	-	c.3578A>G	c.(3577-3579)AAC>AGC	p.N1193S	DICER1_uc010avh.1_Missense_Mutation_p.N91S|DICER1_uc001ydv.2_Missense_Mutation_p.N1183S|DICER1_uc001ydx.2_Missense_Mutation_p.N1193S|DICER1_uc001ydy.1_Missense_Mutation_p.N45S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1193					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-microRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			ovary(1)|pancreas(1)|lung(1)|skin(1)	4		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)						741				0.18705	64.277069	77.018865	26	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95570155	95570155	4700	14	T	C	C	C	780	60	DICER1	4	4
BDKRB2	624	broad.mit.edu	37	14	96706899	96706899	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96706899C>A	uc010avm.1	+	c.234C>A	c.(232-234)GTC>GTA	p.V78V	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.V51V|BDKRB2_uc001yfg.2_Silent_p.V78V	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	78	Helical; Name=1; (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|inflammatory response|regulation of vascular permeability|regulation of vasoconstriction|smooth muscle contraction|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|kidney(1)	4		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)										0.075697	-12.574205	33.805362	19	232	KEEP	---	---	---	---	capture		Silent	SNP	96706899	96706899	1415	14	C	A	A	A	379	30	BDKRB2	2	2
PAPOLA	10914	broad.mit.edu	37	14	97008599	97008599	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:97008599G>T	uc001yfq.2	+	c.1135G>T	c.(1135-1137)GCA>TCA	p.A379S	PAPOLA_uc001yfr.2_Missense_Mutation_p.A379S|PAPOLA_uc010twv.1_Missense_Mutation_p.A379S|PAPOLA_uc010avp.2_Missense_Mutation_p.A129S	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	379					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		NSCLC(19;254 734 11908 35501 39234)								0.098039	3.233877	11.484139	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97008599	97008599	11846	14	G	T	T	T	442	34	PAPOLA	2	2
C14orf177	283598	broad.mit.edu	37	14	99183605	99183605	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:99183605G>C	uc001yfz.1	+	c.372G>C	c.(370-372)CAG>CAC	p.Q124H		NM_182560	NP_872366	Q52M58	CN177_HUMAN	hypothetical protein LOC283598	124											0		Melanoma(154;0.128)												0.078947	6.475166	33.996187	12	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99183605	99183605	1809	14	G	C	C	C	425	33	C14orf177	3	3
OR4N4	283694	broad.mit.edu	37	15	22382907	22382907	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22382907G>A	uc001yuc.1	+	c.435G>A	c.(433-435)ATG>ATA	p.M145I	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.M145I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.061905	-33.451901	50.601065	26	394	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22382907	22382907	11488	15	G	A	A	A	624	48	OR4N4	2	2
C15orf2	23742	broad.mit.edu	37	15	24922853	24922853	+	Missense_Mutation	SNP	C	A	A	rs113030613		TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922853C>A	uc001ywo.2	+	c.1839C>A	c.(1837-1839)CAC>CAA	p.H613Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	613					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)					p.H613Q(ALEXANDERCELLS-Tumor)|p.H613Q(NCIH1693-Tumor)|p.H613Q(RAJI-Tumor)	443				0.068966	-8.740902	19.126349	10	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922853	24922853	1834	15	C	A	A	A	233	18	C15orf2	2	2
ATP10A	57194	broad.mit.edu	37	15	25936934	25936934	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:25936934A>T	uc010ayu.2	-	c.3093T>A	c.(3091-3093)GAT>GAA	p.D1031E		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1031	Cytoplasmic (Potential).	Magnesium (By similarity).			ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)					p.D1031E(LUDLU1-Tumor)	877				0.189655	46.457332	56.95751	22	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25936934	25936934	1135	15	A	T	T	T	102	8	ATP10A	3	3
OCA2	4948	broad.mit.edu	37	15	28090145	28090145	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28090145C>A	uc001zbh.3	-	c.2392G>T	c.(2392-2394)GAA>TAA	p.E798*	OCA2_uc010ayv.2_Nonsense_Mutation_p.E774*	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	798	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										0.138298	18.509438	30.403027	13	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28090145	28090145	11220	15	C	A	A	A	416	32	OCA2	5	2
OCA2	4948	broad.mit.edu	37	15	28096535	28096535	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28096535G>A	uc001zbh.3	-	c.2331C>T	c.(2329-2331)TGC>TGT	p.C777C	OCA2_uc010ayv.2_Silent_p.C753C	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	777	Helical; (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										0.103448	1.90313	6.444926	3	26	KEEP	---	---	---	---	capture		Silent	SNP	28096535	28096535	11220	15	G	A	A	A	542	42	OCA2	2	2
TJP1	7082	broad.mit.edu	37	15	30054591	30054591	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30054591C>A	uc010azl.2	-	c.604G>T	c.(604-606)GAT>TAT	p.D202Y	TJP1_uc001zcq.2_Missense_Mutation_p.D218Y|TJP1_uc001zcr.2_Missense_Mutation_p.D214Y|TJP1_uc001zcs.2_Missense_Mutation_p.D214Y	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	214	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		Melanoma(77;681 1843 6309 6570)								0.105263	11.542879	32.150777	14	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30054591	30054591	16458	15	C	A	A	A	416	32	TJP1	2	2
OTUD7A	161725	broad.mit.edu	37	15	31818568	31818568	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31818568C>T	uc001zfr.2	-	c.877G>A	c.(877-879)GGC>AGC	p.G293S	OTUD7A_uc001zfq.2_Missense_Mutation_p.G286S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	286	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)	1		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)										0.214286	6.62622	7.675303	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31818568	31818568	11731	15	C	T	T	T	273	21	OTUD7A	2	2
RYR3	6263	broad.mit.edu	37	15	34150030	34150030	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34150030T>C	uc001zhi.2	+	c.14057T>C	c.(14056-14058)GTG>GCG	p.V4686A	RYR3_uc010bar.2_Missense_Mutation_p.V4681A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4686	Helical; Name=M8; (Potential).				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)										0.158333	31.851039	45.204276	19	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34150030	34150030	14250	15	T	C	C	C	767	59	RYR3	4	4
GJD2	57369	broad.mit.edu	37	15	35045189	35045189	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35045189C>T	uc001zis.1	-	c.456G>A	c.(454-456)GGG>GGA	p.G152G		NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	152	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)										0.036036	-54.332904	23.416397	12	321	KEEP	---	---	---	---	capture		Silent	SNP	35045189	35045189	6685	15	C	T	T	T	275	22	GJD2	2	2
VPS18	57617	broad.mit.edu	37	15	41188135	41188135	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41188135G>T	uc001zne.2	+	c.92_splice	c.e2-1	p.G31_splice		NM_020857	NP_065908			vacuolar protein sorting 18						endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)										0.088889	3.496643	26.548569	12	123	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	41188135	41188135	17761	15	G	T	T	T	455	35	VPS18	5	2
INO80	54617	broad.mit.edu	37	15	41350930	41350930	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41350930T>A	uc001zni.2	-	c.1892A>T	c.(1891-1893)TAT>TTT	p.Y631F	INO80_uc010ucu.1_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	631	Helicase ATP-binding.				chromatin remodeling	nucleus	ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)	3														0.142857	16.810061	25.408462	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41350930	41350930	8047	15	T	A	A	A	637	49	INO80	3	3
RPAP1	26015	broad.mit.edu	37	15	41814074	41814074	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41814074G>T	uc001zod.2	-	c.2900C>A	c.(2899-2901)GCG>GAG	p.A967E	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	967	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)										0.333333	8.531374	8.74811	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41814074	41814074	14020	15	G	T	T	T	494	38	RPAP1	1	1
SQRDL	58472	broad.mit.edu	37	15	45974832	45974832	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45974832C>T	uc001zvt.2	+	c.1021C>T	c.(1021-1023)CCT>TCT	p.P341S	SQRDL_uc001zvu.2_Missense_Mutation_p.P341S|SQRDL_uc001zvv.2_Missense_Mutation_p.P341S	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	sulfide dehydrogenase like precursor	341					oxidation-reduction process		oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)										0.150794	32.446514	47.16674	19	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45974832	45974832	15643	15	C	T	T	T	390	30	SQRDL	2	2
ATP8B4	79895	broad.mit.edu	37	15	50211081	50211081	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50211081A>C	uc001zxu.2	-	c.1990T>G	c.(1990-1992)TCA>GCA	p.S664A	ATP8B4_uc010ber.2_Missense_Mutation_p.S537A|ATP8B4_uc010ufd.1_Missense_Mutation_p.S474A|ATP8B4_uc010ufe.1_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	664	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)										0.040678	-44.013332	22.980457	12	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50211081	50211081	1216	15	A	C	C	C	156	12	ATP8B4	4	4
LEO1	123169	broad.mit.edu	37	15	52258551	52258551	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52258551C>A	uc002abo.2	-	c.209G>T	c.(208-210)GGA>GTA	p.G70V	LEO1_uc010bfd.2_Missense_Mutation_p.G70V	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	70	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)								0.046653	-70.046148	38.107482	23	470	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52258551	52258551	9050	15	C	A	A	A	390	30	LEO1	2	2
WDR72	256764	broad.mit.edu	37	15	53905934	53905934	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:53905934A>T	uc002acj.2	-	c.2801T>A	c.(2800-2802)ATA>AAA	p.I934K		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	934										lung(1)	1				all cancers(107;0.0511)										0.062147	-21.011353	49.724835	22	332	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53905934	53905934	17895	15	A	T	T	T	208	16	WDR72	3	3
VPS13C	54832	broad.mit.edu	37	15	62208222	62208222	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62208222C>A	uc002agz.2	-	c.8056_splice	c.e61-1	p.G2686_splice	VPS13C_uc002aha.2_Splice_Site_SNP_p.G2643_splice|VPS13C_uc002ahb.1_Splice_Site_SNP_p.G2686_splice|VPS13C_uc002ahc.1_Splice_Site_SNP_p.G2643_splice|VPS13C_uc002ahd.1_Splice_Site_SNP_p.G63_splice	NM_020821	NP_065872			vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2														0.079365	-0.678627	10.70572	5	58	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	62208222	62208222	17758	15	C	A	A	A	312	24	VPS13C	5	2
NR2E3	10002	broad.mit.edu	37	15	72105900	72105900	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:72105900A>G	uc002ati.2	+	c.919A>G	c.(919-921)ATC>GTC	p.I307V	NR2E3_uc002ath.1_Missense_Mutation_p.I307V	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	photoreceptor-specific nuclear receptor isoform	307					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0														0.16129	11.157077	14.53875	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72105900	72105900	11031	15	A	G	G	G	208	16	NR2E3	4	4
C15orf39	56905	broad.mit.edu	37	15	75499143	75499143	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75499143C>A	uc002azp.3	+	c.754C>A	c.(754-756)CAG>AAG	p.Q252K	C15orf39_uc002azq.3_Missense_Mutation_p.Q252K|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	252											0														0.09375	1.401746	6.709807	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75499143	75499143	1843	15	C	A	A	A	273	21	C15orf39	2	2
ADAMTSL3	57188	broad.mit.edu	37	15	84706472	84706472	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84706472C>A	uc002bjz.3	+	c.4990C>A	c.(4990-4992)CAC>AAC	p.H1664N	ADAMTSL3_uc010bmu.1_Intron	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1664	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18			BRCA - Breast invasive adenocarcinoma(143;0.211)							580				0.052342	-41.168027	35.750387	19	344	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84706472	84706472	277	15	C	A	A	A	377	29	ADAMTSL3	2	2
KLHL25	64410	broad.mit.edu	37	15	86312943	86312943	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86312943C>T	uc002bly.2	-	c.99G>A	c.(97-99)CTG>CTA	p.L33L		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	33						cytoplasm				ovary(2)	2														0.107143	4.96081	13.493471	6	50	KEEP	---	---	---	---	capture		Silent	SNP	86312943	86312943	8692	15	C	T	T	T	262	21	KLHL25	2	2
ACAN	176	broad.mit.edu	37	15	89386832	89386832	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89386832C>T	uc010upo.1	+	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	ACAN_uc002bmx.2_Missense_Mutation_p.T335M|ACAN_uc010upp.1_Missense_Mutation_p.T335M|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)											0.2	15.797306	19.131565	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89386832	89386832	118	15	C	T	T	T	247	19	ACAN	1	1
MCTP2	55784	broad.mit.edu	37	15	94857544	94857544	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:94857544A>G	uc002btj.2	+	c.499A>G	c.(499-501)ATG>GTG	p.M167V	MCTP2_uc010urg.1_Missense_Mutation_p.M167V|MCTP2_uc002bti.2_Missense_Mutation_p.M167V|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.M167V|MCTP2_uc002btg.3_Missense_Mutation_p.M167V|MCTP2_uc002bth.3_Missense_Mutation_p.M167V	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	167					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)	2	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)											0.066265	-5.007394	27.41103	11	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94857544	94857544	9790	15	A	G	G	G	208	16	MCTP2	4	4
XYLT1	64131	broad.mit.edu	37	16	17292255	17292255	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17292255T>C	uc002dfa.2	-	c.1103A>G	c.(1102-1104)CAT>CGT	p.H368R		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	368	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.173333	22.729829	30.288353	13	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17292255	17292255	18046	16	T	C	C	C	663	51	XYLT1	4	4
ACSM5	54988	broad.mit.edu	37	16	20439154	20439154	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20439154C>T	uc002dhe.2	+	c.966C>T	c.(964-966)ACC>ACT	p.T322T		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	322					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2														0.077022	-11.467993	131.149127	60	719	KEEP	---	---	---	---	capture		Silent	SNP	20439154	20439154	188	16	C	T	T	T	262	21	ACSM5	2	2
ACSM2B	348158	broad.mit.edu	37	16	20556481	20556481	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20556481C>A	uc002dhj.3	-	c.1279G>T	c.(1279-1281)GTG>TTG	p.V427L	ACSM2B_uc002dhk.3_Missense_Mutation_p.V427L|ACSM2B_uc010bwf.1_Missense_Mutation_p.V427L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	427					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.067308	-4.047537	16.107125	7	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20556481	20556481	185	16	C	A	A	A	221	17	ACSM2B	2	2
LOC81691	81691	broad.mit.edu	37	16	20856477	20856477	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20856477G>T	uc002dhv.2	+	c.2038G>T	c.(2038-2040)GCC>TCC	p.A680S	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.A649S|LOC81691_uc002dhw.2_Missense_Mutation_p.A423S|LOC81691_uc002dhy.3_Missense_Mutation_p.A680S	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	680						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2														0.166667	18.81473	25.133935	10	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20856477	20856477	9262	16	G	T	T	T	598	46	LOC81691	2	2
DCUN1D3	123879	broad.mit.edu	37	16	20871399	20871399	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20871399T>A	uc002dhz.2	-	c.724A>T	c.(724-726)ACT>TCT	p.T242S	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain	242	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				ovary(2)	2				GBM - Glioblastoma multiforme(48;0.249)										0.158416	57.779356	80.242977	32	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20871399	20871399	4486	16	T	A	A	A	767	59	DCUN1D3	3	3
DNAH3	55567	broad.mit.edu	37	16	20996668	20996668	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20996668C>T	uc010vbe.1	-	c.7396G>A	c.(7396-7398)GGC>AGC	p.G2466S	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2466	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.196078	21.209353	25.615411	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20996668	20996668	4786	16	C	T	T	T	312	24	DNAH3	2	2
CASKIN1	57524	broad.mit.edu	37	16	2237242	2237242	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2237242T>A	uc010bsg.1	-	c.760A>T	c.(760-762)AGC>TGC	p.S254C		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	254					signal transduction	cytoplasm					0														0.166667	15.703256	20.123467	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2237242	2237242	2785	16	T	A	A	A	715	55	CASKIN1	3	3
PALB2	79728	broad.mit.edu	37	16	23637588	23637588	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23637588C>A	uc002dlx.1	-	c.2717G>T	c.(2716-2718)TGG>TTG	p.W906L		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	906	Interaction with RAD51 and BRCA2.|WD 1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(2)|ovary(2)|lung(1)|skin(1)|kidney(1)|pancreas(1)	8				GBM - Glioblastoma multiforme(48;0.0167)						263				0.075	-1.591683	13.214803	6	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23637588	23637588	11822	16	C	A	A	A	273	21	PALB2	2	2
HS3ST4	9951	broad.mit.edu	37	16	25704416	25704416	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:25704416G>A	uc002dof.2	+	c.678G>A	c.(676-678)GTG>GTA	p.V226V		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	226	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)										0.157895	5.011789	7.133465	3	16	KEEP	---	---	---	---	capture		Silent	SNP	25704416	25704416	7661	16	G	A	A	A	600	47	HS3ST4	2	2
GTF3C1	2975	broad.mit.edu	37	16	27519926	27519926	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27519926T>C	uc002dov.1	-	c.1177A>G	c.(1177-1179)ATG>GTG	p.M393V	GTF3C1_uc002dou.2_Missense_Mutation_p.M393V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	393					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|breast(1)|pancreas(1)	4														0.045455	-9.871799	9.54454	4	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27519926	27519926	7152	16	T	C	C	C	637	49	GTF3C1	4	4
IL27	246778	broad.mit.edu	37	16	28513378	28513378	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28513378G>A	uc002dqc.2	-	c.381C>T	c.(379-381)GGC>GGT	p.G127G		NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	127					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0														0.073171	-5.234329	10.071497	6	76	KEEP	---	---	---	---	capture		Silent	SNP	28513378	28513378	7981	16	G	A	A	A	535	42	IL27	2	2
DCTPP1	79077	broad.mit.edu	37	16	30435740	30435740	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30435740G>A	uc002dyf.2	-	c.327C>T	c.(325-327)CGC>CGT	p.R109R	ZNF771_uc010bzx.2_Intron	NM_024096	NP_077001	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	109					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding				0														0.097826	3.980927	18.815137	9	83	KEEP	---	---	---	---	capture		Silent	SNP	30435740	30435740	4483	16	G	A	A	A	431	34	DCTPP1	2	2
MEFV	4210	broad.mit.edu	37	16	3304325	3304325	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3304325G>C	uc002cun.1	-	c.743C>G	c.(742-744)TCT>TGT	p.S248C		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	248					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5					Colchicine(DB01394)									0.042105	-11.182727	10.207732	4	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3304325	3304325	9848	16	G	C	C	C	429	33	MEFV	3	3
N4BP1	9683	broad.mit.edu	37	16	48581955	48581956	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48581955_48581956TC>AA	uc002efp.2	-	c.2187_2188GA>TT	c.(2185-2190)GTGAAT>GTTTAT	p.N730Y		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	730					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)												0.066351	-12.521609	28.630398	14	197	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	48581955	48581956	10504	16	TC	AA	AA	AA	806	62	N4BP1	3	3
ALG1	56052	broad.mit.edu	37	16	5128824	5128824	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:5128824G>T	uc002cyn.2	+	c.807G>T	c.(805-807)CTG>CTT	p.L269L	ALG1_uc002cyj.2_Silent_p.L158L|ALG1_uc002cym.2_Silent_p.L269L|ALG1_uc010bue.2_Silent_p.L158L|ALG1_uc010uxy.1_Silent_p.L158L	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	269	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			ovary(1)	1		Ovarian(90;0.0164)												0.194444	11.821594	14.956863	7	29	KEEP	---	---	---	---	capture		Silent	SNP	5128824	5128824	513	16	G	T	T	T	600	47	ALG1	2	2
CX3CL1	6376	broad.mit.edu	37	16	57416300	57416300	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57416300G>A	uc002eli.2	+	c.550G>A	c.(550-552)GAG>AAG	p.E184K		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	184	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0														0.078652	-1.109378	15.002364	7	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57416300	57416300	4234	16	G	A	A	A	533	41	CX3CL1	2	2
GPR56	9289	broad.mit.edu	37	16	57685350	57685350	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57685350A>T	uc002emb.2	+	c.303A>T	c.(301-303)TTA>TTT	p.L101F	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.L101F|GPR56_uc002emf.2_Missense_Mutation_p.L101F|GPR56_uc010vhs.1_Missense_Mutation_p.L101F|GPR56_uc002emd.2_Missense_Mutation_p.L101F|GPR56_uc002eme.2_Missense_Mutation_p.L101F|GPR56_uc010vht.1_Missense_Mutation_p.L106F|GPR56_uc002emg.3_Missense_Mutation_p.L101F|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	101	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0														0.135135	15.919211	25.449928	10	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57685350	57685350	6975	16	A	T	T	T	180	14	GPR56	3	3
CNGB1	1258	broad.mit.edu	37	16	57918246	57918246	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57918246G>T	uc002emt.2	-	c.3578C>A	c.(3577-3579)CCG>CAG	p.P1193Q	CNGB1_uc010cdh.2_Missense_Mutation_p.P1187Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1193	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						Colon(156;1293 1853 16336 28962 38659)								0.085714	0.852941	6.8026	3	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57918246	57918246	3738	16	G	T	T	T	507	39	CNGB1	1	1
PLEKHG4	25894	broad.mit.edu	37	16	67320198	67320198	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67320198G>T	uc002eso.3	+	c.2464G>T	c.(2464-2466)GCG>TCG	p.A822S	PLEKHG4_uc002esp.3_Missense_Mutation_p.A629S|PLEKHG4_uc002esq.3_Missense_Mutation_p.A822S|PLEKHG4_uc010cef.2_Missense_Mutation_p.A822S|PLEKHG4_uc002ess.3_Missense_Mutation_p.A822S|PLEKHG4_uc010ceg.2_Missense_Mutation_p.A741S	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)										0.098039	8.390533	24.869458	10	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67320198	67320198	12497	16	G	T	T	T	494	38	PLEKHG4	1	1
HYDIN	54768	broad.mit.edu	37	16	70841512	70841512	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70841512C>T	uc002ezr.2	-	c.15334G>A	c.(15334-15336)GTT>ATT	p.V5112I	HYDIN_uc010cfy.2_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5113										ovary(1)	1		Ovarian(137;0.0654)												0.051948	-27.253169	21.774451	12	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70841512	70841512	7767	16	C	T	T	T	234	18	HYDIN	2	2
HYDIN	54768	broad.mit.edu	37	16	70891626	70891626	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70891626A>T	uc002ezr.2	-	c.12274T>A	c.(12274-12276)TTC>ATC	p.F4092I	HYDIN_uc010cfy.2_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4093										ovary(1)	1		Ovarian(137;0.0654)												0.088235	2.70568	20.181788	9	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70891626	70891626	7767	16	A	T	T	T	39	3	HYDIN	3	3
CNTNAP4	85445	broad.mit.edu	37	16	76501257	76501257	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76501257G>C	uc002fex.1	+	c.1501G>C	c.(1501-1503)GAC>CAC	p.D501H	CNTNAP4_uc002feu.1_Missense_Mutation_p.D498H|CNTNAP4_uc002fev.1_Missense_Mutation_p.D362H|CNTNAP4_uc010chb.1_Missense_Mutation_p.D425H|CNTNAP4_uc002few.2_Missense_Mutation_p.D473H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	498	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.101695	6.301854	15.641387	6	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76501257	76501257	3787	16	G	C	C	C	585	45	CNTNAP4	3	3
CDYL2	124359	broad.mit.edu	37	16	80646674	80646674	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:80646674G>T	uc002ffs.2	-	c.1067C>A	c.(1066-1068)CCG>CAG	p.P356Q		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	356					chromatin assembly or disassembly	chromatin|nucleus	catalytic activity|chromatin binding|protein binding			central_nervous_system(1)	1														0.060914	-12.796213	26.713797	12	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80646674	80646674	3319	16	G	T	T	T	507	39	CDYL2	1	1
HSD17B2	3294	broad.mit.edu	37	16	82104622	82104622	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:82104622A>G	uc002fgv.2	+	c.554A>G	c.(553-555)TAC>TGC	p.Y185C		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	185					oxidation-reduction process|response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)									0.096899	24.402881	66.399768	25	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82104622	82104622	7679	16	A	G	G	G	182	14	HSD17B2	4	4
MYH8	4626	broad.mit.edu	37	17	10303778	10303778	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10303778T>C	uc002gmm.2	-	c.3664A>G	c.(3664-3666)AAG>GAG	p.K1222E		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1222	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.032258	-41.383084	17.780946	8	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10303778	10303778	10436	17	T	C	C	C	806	62	MYH8	4	4
DNAH9	1770	broad.mit.edu	37	17	11572432	11572432	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11572432T>A	uc002gne.2	+	c.2783T>A	c.(2782-2784)ATC>AAC	p.I928N	DNAH9_uc010coo.2_Missense_Mutation_p.I222N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	928	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.088435	17.120529	92.613605	39	402	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11572432	11572432	4791	17	T	A	A	A	650	50	DNAH9	3	3
DNAH9	1770	broad.mit.edu	37	17	11607656	11607656	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11607656T>G	uc002gne.2	+	c.5288T>G	c.(5287-5289)ATG>AGG	p.M1763R	DNAH9_uc010coo.2_Missense_Mutation_p.M1057R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1763	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.098592	11.650033	34.552406	14	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11607656	11607656	4791	17	T	G	G	G	663	51	DNAH9	4	4
NF1	4763	broad.mit.edu	37	17	29527461	29527461	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29527461C>T	uc002hgg.2	+	c.910C>T	c.(910-912)CGA>TGA	p.R304*	NF1_uc002hge.1_Nonsense_Mutation_p.R304*|NF1_uc002hgf.1_Nonsense_Mutation_p.R304*|NF1_uc002hgh.2_Nonsense_Mutation_p.R304*|NF1_uc010csn.1_Nonsense_Mutation_p.R164*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	304					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.R304*(3)|p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.171875	43.168125	56.194662	22	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29527461	29527461	10756	17	C	T	T	T	243	19	NF1	5	1
NF1	4763	broad.mit.edu	37	17	29527470	29527470	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29527470C>T	uc002hgg.2	+	c.919C>T	c.(919-921)CTT>TTT	p.L307F	NF1_uc002hge.1_Missense_Mutation_p.L307F|NF1_uc002hgf.1_Missense_Mutation_p.L307F|NF1_uc002hgh.2_Missense_Mutation_p.L307F|NF1_uc010csn.1_Missense_Mutation_p.L167F	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	307					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.175182	48.810336	62.449134	24	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29527470	29527470	10756	17	C	T	T	T	416	32	NF1	2	2
CCL13	6357	broad.mit.edu	37	17	32684527	32684527	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32684527C>T	uc002hic.2	+	c.110C>T	c.(109-111)ACA>ATA	p.T37I		NM_005408	NP_005399	Q99616	CCL13_HUMAN	small inducible cytokine A13 precursor	37					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)												0.095652	15.201453	71.813409	33	312	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32684527	32684527	3009	17	C	T	T	T	221	17	CCL13	2	2
TAF15	8148	broad.mit.edu	37	17	34147178	34147178	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34147178G>T	uc002hkd.2	+	c.110G>T	c.(109-111)GGC>GTC	p.G37V	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.2_Missense_Mutation_p.G37V	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	37	Gln/Gly/Ser/Tyr-rich.					cytoplasm|nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|skin(1)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)						696				0.067485	-9.210396	22.372451	11	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34147178	34147178	16039	17	G	T	T	T	546	42	TAF15	2	2
P2RX1	5023	broad.mit.edu	37	17	3802969	3802969	+	Silent	SNP	C	G	G	rs12602000		TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3802969C>G	uc002fww.2	-	c.834G>C	c.(832-834)GGG>GGC	p.G278G		NM_002558	NP_002549	P51575	P2RX1_HUMAN	purinergic receptor P2X1	278	Extracellular (Potential).				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)										0.183333	23.143562	28.75647	11	49	KEEP	---	---	---	---	capture		Silent	SNP	3802969	3802969	11752	17	C	G	G	G	327	26	P2RX1	3	3
RARA	5914	broad.mit.edu	37	17	38506137	38506137	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38506137C>T	uc002huk.1	+	c.429C>T	c.(427-429)TGC>TGT	p.C143C	RARA_uc002hul.3_Silent_p.C143C|RARA_uc010wfe.1_Intron|RARA_uc002hun.1_Silent_p.C138C	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	143	Nuclear receptor.|NR C4-type.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene-specific transcription|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cell surface|cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)					272				0.111111	4.499616	9.859699	4	32	KEEP	---	---	---	---	capture		Silent	SNP	38506137	38506137	13512	17	C	T	T	T	337	26	RARA	2	2
KRT33A	3883	broad.mit.edu	37	17	39503366	39503366	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39503366C>T	uc002hwk.1	-	c.697G>A	c.(697-699)GAG>AAG	p.E233K		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	233	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)												0.095745	3.90154	19.316373	9	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39503366	39503366	8784	17	C	T	T	T	377	29	KRT33A	2	2
KRT32	3882	broad.mit.edu	37	17	39622168	39622168	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39622168G>T	uc002hwr.2	-	c.565C>A	c.(565-567)CTG>ATG	p.L189M		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	189	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)												0.189189	13.49927	16.848264	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39622168	39622168	8783	17	G	T	T	T	438	34	KRT32	2	2
GHDC	84514	broad.mit.edu	37	17	40344424	40344424	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40344424C>G	uc002hzd.2	-	c.724G>C	c.(724-726)GAG>CAG	p.E242Q	GHDC_uc002hzg.1_Missense_Mutation_p.E242Q|GHDC_uc010wgg.1_Missense_Mutation_p.E203Q|GHDC_uc002hze.3_Missense_Mutation_p.E242Q|GHDC_uc002hzf.3_Missense_Mutation_p.E242Q|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	242						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)										0.078571	0.661417	26.035956	11	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40344424	40344424	6637	17	C	G	G	G	390	30	GHDC	3	3
COASY	80347	broad.mit.edu	37	17	40716806	40716806	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40716806A>C	uc010cyj.2	+	c.1214A>C	c.(1213-1215)CAG>CCG	p.Q405P	COASY_uc002hzz.2_Missense_Mutation_p.Q376P|COASY_uc002iab.2_Missense_Mutation_p.Q81P|COASY_uc002iad.2_Missense_Mutation_p.Q376P|COASY_uc002iac.2_Missense_Mutation_p.Q376P|COASY_uc002iae.2_Missense_Mutation_p.Q171P|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042532	NP_001035997	Q13057	COASY_HUMAN	coenzyme A synthase isoform c	376	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)										0.056818	-7.98634	10.157378	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40716806	40716806	3790	17	A	C	C	C	91	7	COASY	4	4
SLC4A1	6521	broad.mit.edu	37	17	42328846	42328846	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42328846G>T	uc002igf.3	-	c.2422C>A	c.(2422-2424)CGC>AGC	p.R808S		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	808	Membrane (anion exchange).		R -> H (in SPH4; Nara).|R -> C (in SPH4; Jablonec).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)										0.26	68.814131	74.024747	26	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42328846	42328846	15147	17	G	T	T	T	507	39	SLC4A1	1	1
C17orf46	124783	broad.mit.edu	37	17	43332557	43332557	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43332557C>T	uc002iis.1	-	c.992G>A	c.(991-993)AGG>AAG	p.R331K	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.R310K	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	331										large_intestine(1)|ovary(1)	2														0.057377	-8.973379	16.105946	7	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43332557	43332557	1913	17	C	T	T	T	312	24	C17orf46	2	2
MYBBP1A	10514	broad.mit.edu	37	17	4451565	4451565	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4451565C>A	uc002fxz.3	-	c.1597G>T	c.(1597-1599)GGC>TGC	p.G533C	MYBBP1A_uc002fyb.3_Missense_Mutation_p.G533C	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 1	533	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2														0.113636	5.245167	11.723041	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4451565	4451565	10403	17	C	A	A	A	286	22	MYBBP1A	2	2
IGF2BP1	10642	broad.mit.edu	37	17	47109330	47109330	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47109330C>G	uc002iom.2	+	c.396C>G	c.(394-396)ACC>ACG	p.T132T	IGF2BP1_uc010dbj.2_Silent_p.T132T	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	132	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)						OREG0024529	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.117904	41.569993	74.418363	27	202	KEEP	---	---	---	---	capture		Silent	SNP	47109330	47109330	7874	17	C	G	G	G	262	21	IGF2BP1	3	3
DLX4	1748	broad.mit.edu	37	17	48051292	48051292	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48051292G>T	uc002ipv.2	+	c.708G>T	c.(706-708)TCG>TCT	p.S236S	DLX4_uc002ipw.2_Silent_p.S164S	NM_138281	NP_612138	Q92988	DLX4_HUMAN	distal-less homeobox 4 isoform a	236					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.207547	21.93043	26.111138	11	42	KEEP	---	---	---	---	capture		Silent	SNP	48051292	48051292	4753	17	G	T	T	T	483	38	DLX4	1	1
KIF2B	84643	broad.mit.edu	37	17	51901406	51901406	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901406C>T	uc002iua.2	+	c.1012C>T	c.(1012-1014)CTC>TTC	p.L338F		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	338	Kinesin-motor.				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)	5														0.105263	25.36698	63.621579	26	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51901406	51901406	8609	17	C	T	T	T	416	32	KIF2B	2	2
KIF2B	84643	broad.mit.edu	37	17	51901520	51901520	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901520G>C	uc002iua.2	+	c.1126G>C	c.(1126-1128)GTC>CTC	p.V376L		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	376	Kinesin-motor.				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)	5														0.102041	27.047888	57.995845	20	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51901520	51901520	8609	17	G	C	C	C	468	36	KIF2B	3	3
TMEM49	81671	broad.mit.edu	37	17	57915655	57915655	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57915655G>T	uc002ixu.3	+	c.975_splice	c.e11-1	p.G325_splice	TMEM49_uc010wog.1_Splice_Site_SNP_p.G133_splice|TMEM49_uc010woh.1_Splice_Site_SNP_p.G269_splice|TMEM49_uc010woi.1_Splice_Site_SNP_p.G228_splice|TMEM49_uc010woj.1_Splice_Site_SNP_p.G191_splice|TMEM49_uc002ixv.2_5'Flank|MIR21_hsa-mir-21|MI0000077_5'Flank	NM_030938	NP_112200			transmembrane protein 49							endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)											0.109091	10.421341	27.071209	12	98	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	57915655	57915655	16712	17	G	T	T	T	468	36	TMEM49	5	2
USP32	84669	broad.mit.edu	37	17	58313588	58313588	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58313588G>A	uc002iyo.1	-	c.1150C>T	c.(1150-1152)CGA>TGA	p.R384*	USP32_uc002iyn.1_Nonsense_Mutation_p.R54*	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	384	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)											0.043478	-30.419879	15.744141	9	198	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58313588	58313588	17627	17	G	A	A	A	519	40	USP32	5	1
C17orf64	124773	broad.mit.edu	37	17	58506867	58506867	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58506867C>A	uc002iyq.2	+	c.574C>A	c.(574-576)CAA>AAA	p.Q192K		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	hypothetical protein LOC124773	192										breast(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)											0.138889	12.42283	21.483342	10	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58506867	58506867	1929	17	C	A	A	A	377	29	C17orf64	2	2
APPBP2	10513	broad.mit.edu	37	17	58543708	58543708	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58543708C>A	uc002iys.1	-	c.616G>T	c.(616-618)GCT>TCT	p.A206S	APPBP2_uc010ddl.1_Missense_Mutation_p.A135S	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	206	TPR 3.				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)											0.114504	15.131967	34.322611	15	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58543708	58543708	827	17	C	A	A	A	364	28	APPBP2	2	2
BCAS3	54828	broad.mit.edu	37	17	59115404	59115404	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59115404G>T	uc002iyv.3	+	c.1962G>T	c.(1960-1962)TGG>TGT	p.W654C	BCAS3_uc010wow.1_Missense_Mutation_p.W426C|BCAS3_uc002iyu.3_Missense_Mutation_p.W639C|BCAS3_uc002iyw.3_Missense_Mutation_p.W635C|BCAS3_uc002iyy.3_Missense_Mutation_p.W410C|BCAS3_uc002iyz.3_Missense_Mutation_p.W208C|BCAS3_uc002iza.3_Missense_Mutation_p.W193C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	654						nucleus				ovary(2)|central_nervous_system(2)	4			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)											0.083969	-1.277829	21.761435	11	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59115404	59115404	1373	17	G	T	T	T	533	41	BCAS3	2	2
SCN4A	6329	broad.mit.edu	37	17	62049987	62049987	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62049987G>A	uc002jds.1	-	c.215C>T	c.(214-216)CCG>CTG	p.P72L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	72					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.09375	1.805584	7.109606	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62049987	62049987	14402	17	G	A	A	A	507	39	SCN4A	1	1
GNA13	10672	broad.mit.edu	37	17	63010499	63010499	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:63010499T>C	uc002jfc.2	-	c.1010A>G	c.(1009-1011)CAG>CGG	p.Q337R	GNA13_uc010wqh.1_Missense_Mutation_p.Q242R	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	337					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0														0.098266	8.117096	36.474948	17	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63010499	63010499	6770	17	T	C	C	C	715	55	GNA13	4	4
ABCA10	10349	broad.mit.edu	37	17	67170783	67170784	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67170783_67170784CC>AA	uc010dfa.1	-	c.3012_3013GG>TT	c.(3010-3015)CTGGGA>CTTTGA	p.G1005*	ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1005	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.042373	-52.836164	26.849437	15	339	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	67170783	67170784	30	17	CC	AA	AA	AA	286	22	ABCA10	5	2
KCNJ2	3759	broad.mit.edu	37	17	68171259	68171259	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68171259G>T	uc010dfg.2	+	c.79G>T	c.(79-81)GCA>TCA	p.A27S	KCNJ2_uc002jir.2_Missense_Mutation_p.A27S	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	27	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)													0.0625	-5.772443	10.170373	5	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68171259	68171259	8356	17	G	T	T	T	598	46	KCNJ2	2	2
TP53	7157	broad.mit.edu	37	17	7577507	7577507	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577507T>A	uc002gim.2	-	c.774A>T	c.(772-774)GAA>GAT	p.E258D	TP53_uc002gig.1_Missense_Mutation_p.E258D|TP53_uc002gih.2_Missense_Mutation_p.E258D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126D|TP53_uc010cng.1_Missense_Mutation_p.E126D|TP53_uc002gii.1_Missense_Mutation_p.E126D|TP53_uc010cnh.1_Missense_Mutation_p.E258D|TP53_uc010cni.1_Missense_Mutation_p.E258D|TP53_uc002gij.2_Missense_Mutation_p.E258D|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.E165D|TP53_uc002gio.2_Missense_Mutation_p.E126D	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	258	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> Q (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.E258D(8)|p.0?(6)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.Y126fs*24(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.318681	74.84058	77.501265	29	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577507	7577507	16923	17	T	A	A	A	725	56	TP53	3	3
DNAH17	8632	broad.mit.edu	37	17	76565323	76565323	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76565323G>C	uc002jvv.1	-	c.315C>G	c.(313-315)CCC>CCG	p.P105P		DNAH17				RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)											0.333333	7.220847	7.442829	3	6	KEEP	---	---	---	---	capture		Silent	SNP	76565323	76565323	4784	17	G	C	C	C	496	39	DNAH17	3	3
C1QTNF1	114897	broad.mit.edu	37	17	77043818	77043818	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77043818T>A	uc002jwt.2	+	c.788T>A	c.(787-789)GTG>GAG	p.V263E	C1QTNF1_uc002jwp.2_Missense_Mutation_p.V165E|C1QTNF1_uc002jwq.2_Missense_Mutation_p.V83E|C1QTNF1_uc002jwr.3_Missense_Mutation_p.V175E|C1QTNF1_uc002jws.2_Missense_Mutation_p.V165E	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	165	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)											0.079681	-4.375483	40.892816	20	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77043818	77043818	2029	17	T	A	A	A	767	59	C1QTNF1	3	3
CYB5D1	124637	broad.mit.edu	37	17	7761775	7761775	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7761775G>T	uc002gjb.3	+	c.215G>T	c.(214-216)TGG>TTG	p.W72L	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Missense_Mutation_p.W72L	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	72	Cytochrome b5 heme-binding.						heme binding				0		all_cancers(10;0.11)|Prostate(122;0.219)										OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.230769	7.22561	8.084025	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7761775	7761775	4289	17	G	T	T	T	611	47	CYB5D1	2	2
WDR45L	56270	broad.mit.edu	37	17	80588887	80588887	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80588887C>T	uc002kfq.2	-	c.154G>A	c.(154-156)GGA>AGA	p.G52R	WDR45L_uc002kfr.2_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	WDR45-like	52					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)											0.269231	40.628534	43.126262	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80588887	80588887	17871	17	C	T	T	T	312	24	WDR45L	2	2
CDH2	1000	broad.mit.edu	37	18	25583117	25583117	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25583117G>T	uc002kwg.2	-	c.864C>A	c.(862-864)ACC>ACA	p.T288T	CDH2_uc010xbn.1_Silent_p.T257T	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	288	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.12381	17.615953	32.135449	13	92	KEEP	---	---	---	---	capture		Silent	SNP	25583117	25583117	3234	18	G	T	T	T	496	39	CDH2	1	1
DSG2	1829	broad.mit.edu	37	18	29126202	29126202	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29126202G>T	uc002kwu.3	+	c.2853G>T	c.(2851-2853)GTG>GTT	p.V951V		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	951	Desmoglein repeat 3.|Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)	8			OV - Ovarian serous cystadenocarcinoma(10;0.0068)											0.066327	-12.36277	25.855233	13	183	KEEP	---	---	---	---	capture		Silent	SNP	29126202	29126202	4961	18	G	T	T	T	574	45	DSG2	2	2
C18orf34	374864	broad.mit.edu	37	18	30969551	30969551	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30969551T>A	uc010xbr.1	-	c.161A>T	c.(160-162)AAG>ATG	p.K54M	C18orf34_uc002kxn.2_Missense_Mutation_p.K54M|C18orf34_uc010dmf.1_Missense_Mutation_p.K54M|C18orf34_uc002kxo.2_Missense_Mutation_p.K54M|C18orf34_uc002kxp.2_Missense_Mutation_p.K54M	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	54										ovary(1)	1														0.111111	10.947909	25.756511	11	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30969551	30969551	1963	18	T	A	A	A	728	56	C18orf34	3	3
NOL4	8715	broad.mit.edu	37	18	31599554	31599554	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31599554C>G	uc010dmi.2	-	c.784G>C	c.(784-786)GCA>CCA	p.A262P	NOL4_uc010xbs.1_5'UTR|NOL4_uc002kxr.3_Missense_Mutation_p.A98P|NOL4_uc010xbt.1_Missense_Mutation_p.A188P|NOL4_uc010dmh.2_Missense_Mutation_p.A188P|NOL4_uc010xbu.1_Missense_Mutation_p.A262P|NOL4_uc002kxt.3_Missense_Mutation_p.A262P|NOL4_uc010xbv.1_Missense_Mutation_p.A11P|NOL4_uc010xbw.1_Missense_Mutation_p.A148P	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	262						nucleolus	RNA binding			ovary(3)	3														0.039062	-17.742655	11.620126	5	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31599554	31599554	10927	18	C	G	G	G	325	25	NOL4	3	3
NOL4	8715	broad.mit.edu	37	18	31709892	31709892	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31709892C>G	uc010dmi.2	-	c.357G>C	c.(355-357)ACG>ACC	p.T119T	NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Silent_p.T45T|NOL4_uc010dmh.2_Silent_p.T45T|NOL4_uc010xbu.1_Silent_p.T119T|NOL4_uc002kxt.3_Silent_p.T119T|NOL4_uc010xbw.1_Silent_p.T5T	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	119						nucleolus	RNA binding			ovary(3)	3														0.05618	-22.378311	32.894049	15	252	KEEP	---	---	---	---	capture		Silent	SNP	31709892	31709892	10927	18	C	G	G	G	288	23	NOL4	3	3
DTNA	1837	broad.mit.edu	37	18	32428317	32428317	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32428317G>T	uc010dmn.1	+	c.1323G>T	c.(1321-1323)GCG>GCT	p.A441A	DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Silent_p.A384A|DTNA_uc002kxw.2_Silent_p.A384A|DTNA_uc010dmj.2_Silent_p.A381A|DTNA_uc002kxz.2_Silent_p.A381A|DTNA_uc002kxy.2_Silent_p.A381A|DTNA_uc010dml.2_Silent_p.A381A|DTNA_uc002kyb.3_Silent_p.A438A|DTNA_uc010dmm.2_Silent_p.A441A|DTNA_uc010xby.1_Silent_p.A131A|DTNA_uc010dmo.2_Silent_p.A63A|DTNA_uc002kyd.3_Silent_p.A63A|DTNA_uc010xbz.1_Silent_p.A150A|DTNA_uc010xca.1_Silent_p.A93A|DTNA_uc002kye.2_Silent_p.A89A	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	441	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.076087	-1.234108	15.695529	7	85	KEEP	---	---	---	---	capture		Silent	SNP	32428317	32428317	4973	18	G	T	T	T	496	39	DTNA	1	1
SYT4	6860	broad.mit.edu	37	18	40850357	40850357	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40850357A>T	uc002law.2	-	c.1227T>A	c.(1225-1227)TGT>TGA	p.C409*	SYT4_uc010dng.2_Non-coding_Transcript|SYT4_uc010xcm.1_Nonsense_Mutation_p.C391*|SYT4_uc010dnh.2_Non-coding_Transcript	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	409	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.112167	63.292414	141.402808	59	467	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40850357	40850357	15997	18	A	T	T	T	76	6	SYT4	5	3
SETBP1	26040	broad.mit.edu	37	18	42530423	42530423	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42530423C>G	uc010dni.2	+	c.1118C>G	c.(1117-1119)TCC>TGC	p.S373C		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	373						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.039648	-34.51826	17.965638	9	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42530423	42530423	14617	18	C	G	G	G	390	30	SETBP1	3	3
SLC14A2	8170	broad.mit.edu	37	18	43248402	43248402	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43248402T>A	uc010dnj.2	+	c.1996T>A	c.(1996-1998)TGG>AGG	p.W666R	SLC14A2_uc002lbe.2_Missense_Mutation_p.W666R	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	666	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.064103	-4.971422	10.426931	5	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43248402	43248402	14892	18	T	A	A	A	715	55	SLC14A2	3	3
RNF165	494470	broad.mit.edu	37	18	44030343	44030343	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44030343G>C	uc002lcb.1	+	c.700G>C	c.(700-702)GCC>CCC	p.A234P	RNF165_uc002lby.1_Missense_Mutation_p.A167P|RNF165_uc010dnn.1_Missense_Mutation_p.A30P	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	234							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)										0.174603	23.860532	30.233763	11	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44030343	44030343	13933	18	G	C	C	C	494	38	RNF165	3	3
WDR7	23335	broad.mit.edu	37	18	54591321	54591321	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:54591321C>T	uc002lgk.1	+	c.3695C>T	c.(3694-3696)GCC>GTC	p.A1232V	WDR7_uc002lgl.1_Missense_Mutation_p.A1199V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1232										ovary(2)	2				Lung(128;0.0238)|Colorectal(16;0.0296)										0.041096	-56.216392	26.439775	15	350	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54591321	54591321	17893	18	C	T	T	T	338	26	WDR7	2	2
WDR7	23335	broad.mit.edu	37	18	54591323	54591323	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:54591323G>C	uc002lgk.1	+	c.3697G>C	c.(3697-3699)GAG>CAG	p.E1233Q	WDR7_uc002lgl.1_Missense_Mutation_p.E1200Q	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1233										ovary(2)	2				Lung(128;0.0238)|Colorectal(16;0.0296)										0.036212	-53.566072	30.143477	13	346	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54591323	54591323	17893	18	G	C	C	C	481	37	WDR7	3	3
TNFRSF11A	8792	broad.mit.edu	37	18	60036291	60036291	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:60036291G>T	uc002lin.2	+	c.1141G>T	c.(1141-1143)GGG>TGG	p.G381W	TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	381	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity				0		Colorectal(73;0.188)												0.07377	-5.020615	17.757848	9	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60036291	60036291	16825	18	G	T	T	T	559	43	TNFRSF11A	2	2
SERPINB7	8710	broad.mit.edu	37	18	61459636	61459636	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61459636G>A	uc002ljl.2	+	c.178G>A	c.(178-180)GTT>ATT	p.V60I	SERPINB7_uc002ljm.2_Missense_Mutation_p.V60I|SERPINB7_uc010xet.1_Intron|SERPINB7_uc010dqg.2_Missense_Mutation_p.V60I	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	60					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)												0.088235	2.490872	19.9805	9	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61459636	61459636	14594	18	G	A	A	A	624	48	SERPINB7	2	2
DSEL	92126	broad.mit.edu	37	18	65178453	65178453	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:65178453C>A	uc002lke.1	-	c.3423G>T	c.(3421-3423)GTG>GTT	p.V1141V		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1131						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5		Esophageal squamous(42;0.129)												0.071429	-2.179831	11.067353	5	65	KEEP	---	---	---	---	capture		Silent	SNP	65178453	65178453	4959	18	C	A	A	A	314	25	DSEL	2	2
RTTN	25914	broad.mit.edu	37	18	67834262	67834262	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67834262C>A	uc002lkp.2	-	c.1695G>T	c.(1693-1695)GAG>GAT	p.E565D	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.E565D	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	565							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.084507	0.192336	12.63741	6	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67834262	67834262	14217	18	C	A	A	A	415	32	RTTN	2	2
NETO1	81832	broad.mit.edu	37	18	70417343	70417343	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70417343G>T	uc002lkw.2	-	c.1495C>A	c.(1495-1497)CCG>ACG	p.P499T	NETO1_uc002lkx.1_Missense_Mutation_p.P498T|NETO1_uc002lky.1_Missense_Mutation_p.P499T	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	499	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.050314	-22.084982	12.375636	8	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70417343	70417343	10738	18	G	T	T	T	546	42	NETO1	2	2
LAMA1	284217	broad.mit.edu	37	18	7044726	7044726	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7044726C>A	uc002knm.2	-	c.971G>T	c.(970-972)TGT>TTT	p.C324F	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	324	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.086142	5.278109	51.751813	23	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7044726	7044726	8928	18	C	A	A	A	221	17	LAMA1	2	2
LAMA1	284217	broad.mit.edu	37	18	7050762	7050762	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7050762G>T	uc002knm.2	-	c.519C>A	c.(517-519)ACC>ACA	p.T173T	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	173	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.090909	2.632346	17.481845	8	80	KEEP	---	---	---	---	capture		Silent	SNP	7050762	7050762	8928	18	G	T	T	T	444	35	LAMA1	2	2
CNN1	1264	broad.mit.edu	37	19	11660455	11660455	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11660455A>T	uc002msc.1	+	c.739A>T	c.(739-741)ATG>TTG	p.M247L	CNN1_uc010xmb.1_Missense_Mutation_p.M197L|CNN1_uc010xmc.1_Missense_Mutation_p.M197L	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	247	Calponin-like 3.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0														0.104478	7.250175	28.141718	14	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11660455	11660455	3747	19	A	T	T	T	156	12	CNN1	3	3
ZNF333	84449	broad.mit.edu	37	19	14830005	14830005	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14830005G>A	uc002mzn.2	+	c.1866G>A	c.(1864-1866)CAG>CAA	p.Q622Q	ZNF333_uc002mzk.3_Silent_p.Q513Q	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	622	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						NSCLC(60;75 1281 16985 25154 29885)								0.096019	25.397239	95.255443	41	386	KEEP	---	---	---	---	capture		Silent	SNP	14830005	14830005	18442	19	G	A	A	A	464	36	ZNF333	2	2
OR7A17	26333	broad.mit.edu	37	19	14992166	14992166	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14992166A>T	uc010xob.1	-	c.2T>A	c.(1-3)ATG>AAG	p.M1K		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.103448	2.011395	6.548456	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14992166	14992166	11626	19	A	T	T	T	104	8	OR7A17	3	3
BRD4	23476	broad.mit.edu	37	19	15350220	15350220	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15350220G>T	uc002nar.2	-	c.3559C>A	c.(3559-3561)CCA>ACA	p.P1187T		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1187					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)							269				0.12766	7.024563	13.372107	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15350220	15350220	1535	19	G	T	T	T	533	41	BRD4	2	2
OR10H2	26538	broad.mit.edu	37	19	15839797	15839797	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15839797C>G	uc002nbm.2	+	c.944C>G	c.(943-945)ACC>AGC	p.T315S		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	315	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)													0.098361	2.756671	12.771721	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15839797	15839797	11312	19	C	G	G	G	234	18	OR10H2	3	3
CYP4F11	57834	broad.mit.edu	37	19	16045104	16045104	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16045104A>T	uc002nbu.2	-	c.115T>A	c.(115-117)TAC>AAC	p.Y39N	CYP4F11_uc010eab.1_Missense_Mutation_p.Y39N|CYP4F11_uc002nbt.2_Missense_Mutation_p.Y39N	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	39					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.171429	9.933706	13.505606	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16045104	16045104	4351	19	A	T	T	T	195	15	CYP4F11	3	3
USHBP1	83878	broad.mit.edu	37	19	17370517	17370517	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17370517G>A	uc002nfs.1	-	c.793C>T	c.(793-795)CTG>TTG	p.L265L	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.L201L|USHBP1_uc010eam.1_Silent_p.L193L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	265							PDZ domain binding			ovary(1)	1														0.084211	0.938237	17.606066	8	87	KEEP	---	---	---	---	capture		Silent	SNP	17370517	17370517	17599	19	G	A	A	A	451	35	USHBP1	2	2
CILP2	148113	broad.mit.edu	37	19	19654863	19654863	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19654863C>T	uc002nmw.3	+	c.1527C>T	c.(1525-1527)ACC>ACT	p.T509T	CILP2_uc002nmv.3_Silent_p.T503T	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	503						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.090909	1.447139	6.972286	3	30	KEEP	---	---	---	---	capture		Silent	SNP	19654863	19654863	3564	19	C	T	T	T	288	23	CILP2	1	1
ZNF257	113835	broad.mit.edu	37	19	22271976	22271976	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22271976C>T	uc010ecx.2	+	c.1424C>T	c.(1423-1425)ACT>ATT	p.T475I	ZNF257_uc010ecy.2_Missense_Mutation_p.T443I	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	475	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.12	8.414289	15.497133	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22271976	22271976	18391	19	C	T	T	T	260	20	ZNF257	2	2
ZNF99	7652	broad.mit.edu	37	19	22941730	22941730	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22941730G>T	uc010xrh.1	-	c.708C>A	c.(706-708)GCC>GCA	p.A236A		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	236	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.153846	26.830271	38.748761	16	88	KEEP	---	---	---	---	capture		Silent	SNP	22941730	22941730	18808	19	G	T	T	T	548	43	ZNF99	2	2
ZNF91	7644	broad.mit.edu	37	19	23545105	23545105	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23545105T>A	uc002nre.2	-	c.676A>T	c.(676-678)ACT>TCT	p.T226S	ZNF91_uc010xrj.1_Missense_Mutation_p.T194S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	226	C2H2-type 3.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)												0.235772	71.823073	79.667823	29	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23545105	23545105	18804	19	T	A	A	A	741	57	ZNF91	3	3
ZNF536	9745	broad.mit.edu	37	19	30936135	30936135	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30936135G>T	uc002nsu.1	+	c.1666G>T	c.(1666-1668)GGG>TGG	p.G556W	ZNF536_uc010edd.1_Missense_Mutation_p.G556W	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.18	57.571264	71.990112	27	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30936135	30936135	18568	19	G	T	T	T	507	39	ZNF536	1	1
ZNF536	9745	broad.mit.edu	37	19	31039359	31039359	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039359C>A	uc002nsu.1	+	c.2833C>A	c.(2833-2835)CCT>ACT	p.P945T	ZNF536_uc010edd.1_Missense_Mutation_p.P945T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.221374	126.710551	145.36343	58	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31039359	31039359	18568	19	C	A	A	A	286	22	ZNF536	2	2
ZNF536	9745	broad.mit.edu	37	19	31039943	31039943	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039943C>A	uc002nsu.1	+	c.3417C>A	c.(3415-3417)GCC>GCA	p.A1139A	ZNF536_uc010edd.1_Silent_p.A1139A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.064103	-6.283959	9.131697	5	73	KEEP	---	---	---	---	capture		Silent	SNP	31039943	31039943	18568	19	C	A	A	A	275	22	ZNF536	2	2
CELF5	60680	broad.mit.edu	37	19	3251064	3251064	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3251064G>T	uc002lxm.2	+	c.341G>T	c.(340-342)GGA>GTA	p.G114V	CELF5_uc002lxl.1_Missense_Mutation_p.G114V|CELF5_uc010dtj.1_Missense_Mutation_p.G114V|CELF5_uc010xhg.1_5'UTR	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	114	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.085714	-0.40856	11.778932	6	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3251064	3251064	3352	19	G	T	T	T	533	41	CELF5	2	2
SBSN	374897	broad.mit.edu	37	19	36017670	36017670	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36017670G>T	uc002oad.1	-	c.1514C>A	c.(1513-1515)GCT>GAT	p.A505D	SBSN_uc002oae.1_Missense_Mutation_p.A162D	NM_198538	NM_198538	Q6UWP8	SBSN_HUMAN	suprabasin isoform 2 precursor	162	Ala/Gly/His-rich.					extracellular region				ovary(1)	1	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)											0.191781	29.254011	35.698142	14	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36017670	36017670	14345	19	G	T	T	T	442	34	SBSN	2	2
ATP4A	495	broad.mit.edu	37	19	36050743	36050743	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36050743C>A	uc002oal.1	-	c.1020G>T	c.(1018-1020)GTG>GTT	p.V340V	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	340	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)									0.189474	35.192442	43.770735	18	77	KEEP	---	---	---	---	capture		Silent	SNP	36050743	36050743	1164	19	C	A	A	A	262	21	ATP4A	2	2
ZNF585A	199704	broad.mit.edu	37	19	37643141	37643141	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37643141C>A	uc002ofo.1	-	c.1660G>T	c.(1660-1662)GAA>TAA	p.E554*	ZNF585A_uc002ofm.1_Nonsense_Mutation_p.E499*|ZNF585A_uc002ofn.1_Nonsense_Mutation_p.E499*	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	554	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.032448	-59.654536	21.298013	11	328	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37643141	37643141	18612	19	C	A	A	A	403	31	ZNF585A	5	1
SIPA1L3	23094	broad.mit.edu	37	19	38631937	38631937	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38631937G>T	uc002ohk.2	+	c.3257G>T	c.(3256-3258)GGG>GTG	p.G1086V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1086					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)											0.181102	37.888458	50.005475	23	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38631937	38631937	14826	19	G	T	T	T	559	43	SIPA1L3	2	2
PLEKHG2	64857	broad.mit.edu	37	19	39915833	39915833	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39915833G>T	uc010xuz.1	+	c.4060G>T	c.(4060-4062)GCC>TCC	p.A1354S	PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.A1132S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	1354					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			pancreas(1)|breast(1)|skin(1)	3	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.277778	12.022351	12.788971	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39915833	39915833	12495	19	G	T	T	T	546	42	PLEKHG2	2	2
PRKD2	25865	broad.mit.edu	37	19	47192863	47192863	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47192863C>A	uc010xye.1	-	c.1902G>T	c.(1900-1902)ATG>ATT	p.M634I	PRKD2_uc002pfd.2_Missense_Mutation_p.M8I|PRKD2_uc010eks.2_Missense_Mutation_p.M37I|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.M154I|PRKD2_uc002pff.2_Missense_Mutation_p.M154I|PRKD2_uc002pfg.2_Missense_Mutation_p.M477I|PRKD2_uc002pfh.2_Missense_Mutation_p.M634I|PRKD2_uc002pfi.2_Missense_Mutation_p.M634I|PRKD2_uc002pfj.2_Missense_Mutation_p.M634I|PRKD2_uc002pfk.2_Missense_Mutation_p.M477I	NM_016457	NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	634	Protein kinase.				cell death|intracellular signal transduction|positive regulation of gene-specific transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)						242				0.121951	7.245494	12.984905	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47192863	47192863	12962	19	C	A	A	A	221	17	PRKD2	2	2
LIG1	3978	broad.mit.edu	37	19	48624486	48624486	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48624486C>A	uc002pia.1	-	c.2326G>T	c.(2326-2328)GGG>TGG	p.G776W	LIG1_uc010xze.1_Missense_Mutation_p.G469W|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.G708W|LIG1_uc010xzg.1_Missense_Mutation_p.G745W	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	776					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)									0.056604	-8.759188	13.060161	6	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48624486	48624486	9107	19	C	A	A	A	299	23	LIG1	1	1
PLEKHA4	57664	broad.mit.edu	37	19	49357342	49357342	+	Silent	SNP	C	A	A	rs16982323	byFrequency;by1000genomes	TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49357342C>A	uc002pkx.2	-	c.1098G>T	c.(1096-1098)ACG>ACT	p.T366T	PLEKHA4_uc002pkw.1_5'UTR|PLEKHA4_uc010eml.2_Silent_p.T341T	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	366						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)										0.194444	15.904478	19.039383	7	29	KEEP	---	---	---	---	capture		Silent	SNP	49357342	49357342	12484	19	C	A	A	A	340	27	PLEKHA4	1	1
MYBPC2	4606	broad.mit.edu	37	19	50944203	50944203	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50944203G>A	uc002psf.2	+	c.639G>A	c.(637-639)GAG>GAA	p.E213E		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	213					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)										0.244444	26.005442	28.681756	11	34	KEEP	---	---	---	---	capture		Silent	SNP	50944203	50944203	10407	19	G	A	A	A	425	33	MYBPC2	2	2
GPR32	2854	broad.mit.edu	37	19	51274680	51274680	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51274680G>A	uc010ycf.1	+	c.823G>A	c.(823-825)GTG>ATG	p.V275M		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	275	Helical; Name=6; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		Esophageal Squamous(113;152 1581 5732 15840 44398)								0.247312	53.681241	59.085333	23	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51274680	51274680	6963	19	G	A	A	A	572	44	GPR32	2	2
SIGLEC7	27036	broad.mit.edu	37	19	51650072	51650072	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51650072C>A	uc002pvv.1	+	c.1089C>A	c.(1087-1089)GCC>GCA	p.A363A	SIGLEC7_uc002pvw.1_Silent_p.A270A|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	363	Helical; (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)										0.071038	-11.475699	23.298232	13	170	KEEP	---	---	---	---	capture		Silent	SNP	51650072	51650072	14808	19	C	A	A	A	275	22	SIGLEC7	2	2
CEACAM18	729767	broad.mit.edu	37	19	51983931	51983931	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51983931C>A	uc002pwv.1	+	c.580C>A	c.(580-582)CTA>ATA	p.L194I		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	194						integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.076087	-2.239008	14.695688	7	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51983931	51983931	3322	19	C	A	A	A	415	32	CEACAM18	2	2
SIGLEC12	89858	broad.mit.edu	37	19	52003527	52003527	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52003527C>A	uc002pwx.1	-	c.455G>T	c.(454-456)AGG>ATG	p.R152M	SIGLEC12_uc002pww.1_Missense_Mutation_p.R34M|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	152	Ig-like V-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)	3		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)										0.12	11.120296	21.746415	9	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52003527	52003527	14803	19	C	A	A	A	312	24	SIGLEC12	2	2
FPR2	2358	broad.mit.edu	37	19	52272424	52272424	+	Silent	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52272424T>C	uc002pxr.2	+	c.513T>C	c.(511-513)AAT>AAC	p.N171N	FPR2_uc002pxs.3_Silent_p.N171N|FPR2_uc010epf.2_Silent_p.N171N	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	171	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1														0.223629	135.459316	152.101957	53	184	KEEP	---	---	---	---	capture		Silent	SNP	52272424	52272424	6285	19	T	C	C	C	660	51	FPR2	4	4
FPR3	2359	broad.mit.edu	37	19	52328054	52328054	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52328054A>G	uc002pxt.1	+	c.1053A>G	c.(1051-1053)CAA>CAG	p.Q351Q		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	351	Cytoplasmic (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity				0														0.214286	31.468237	35.690479	12	44	KEEP	---	---	---	---	capture		Silent	SNP	52328054	52328054	6286	19	A	G	G	G	37	3	FPR3	4	4
ZNF578	147660	broad.mit.edu	37	19	53014541	53014541	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53014541A>T	uc002pzp.3	+	c.907A>T	c.(907-909)ACA>TCA	p.T303S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	78	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)										0.235294	79.914713	89.729645	36	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53014541	53014541	18605	19	A	T	T	T	130	10	ZNF578	3	3
ZNF677	342926	broad.mit.edu	37	19	53741220	53741220	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53741220C>A	uc002qbf.1	-	c.760G>T	c.(760-762)GGG>TGG	p.G254W	ZNF677_uc002qbg.1_Missense_Mutation_p.G254W	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)										0.166667	26.89344	35.746626	14	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53741220	53741220	18679	19	C	A	A	A	273	21	ZNF677	2	2
LILRA3	11026	broad.mit.edu	37	19	54804156	54804156	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54804156C>A	uc002qfd.2	-	c.18G>T	c.(16-18)ACG>ACT	p.T6T	LILRA6_uc002qew.1_Silent_p.T6T|LILRA3_uc010erk.2_Silent_p.T6T	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	6					defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.121622	12.724169	23.101825	9	65	KEEP	---	---	---	---	capture		Silent	SNP	54804156	54804156	9112	19	C	A	A	A	288	23	LILRA3	1	1
LILRA1	11024	broad.mit.edu	37	19	55106221	55106221	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55106221G>T	uc002qgh.1	+	c.162G>T	c.(160-162)GAG>GAT	p.E54D	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.E54D	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	54	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.188235	27.615613	35.404793	16	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55106221	55106221	9110	19	G	T	T	T	425	33	LILRA1	2	2
LILRB4	11006	broad.mit.edu	37	19	55175259	55175259	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55175259A>C	uc002qgr.2	+	c.241A>C	c.(241-243)AGC>CGC	p.S81R	LILRB4_uc002qgo.1_Missense_Mutation_p.S81R|LILRB4_uc002qgp.2_Missense_Mutation_p.S40R|LILRB4_uc002qgq.2_Missense_Mutation_p.S40R|LILRB4_uc010ers.1_Splice_Site_SNP|LILRB4_uc010ert.2_Missense_Mutation_p.S81R|LILRB4_uc010eru.2_Missense_Mutation_p.S69R	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	40	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)										0.112583	17.762115	40.160439	17	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55175259	55175259	9119	19	A	C	C	C	91	7	LILRB4	4	4
NLRP7	199713	broad.mit.edu	37	19	55451425	55451425	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55451425G>T	uc010esl.2	-	c.846C>A	c.(844-846)GGC>GGA	p.G282G	NLRP7_uc002qig.3_Silent_p.G254G|NLRP7_uc002qii.3_Silent_p.G254G|NLRP7_uc002qih.3_Silent_p.G254G|NLRP7_uc010esk.2_Silent_p.G254G	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	254	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.174603	38.805935	51.371079	22	104	KEEP	---	---	---	---	capture		Silent	SNP	55451425	55451425	10885	19	G	T	T	T	535	42	NLRP7	2	2
NLRP5	126206	broad.mit.edu	37	19	56544055	56544055	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56544055G>A	uc002qmj.2	+	c.2355G>A	c.(2353-2355)CAG>CAA	p.Q785Q	NLRP5_uc002qmi.2_Silent_p.Q766Q	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	785	LRR 3.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.25	29.403605	31.903415	11	33	KEEP	---	---	---	---	capture		Silent	SNP	56544055	56544055	10883	19	G	A	A	A	438	34	NLRP5	2	2
NLRP5	126206	broad.mit.edu	37	19	56561898	56561898	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56561898C>T	uc002qmj.2	+	c.3072C>T	c.(3070-3072)GGC>GGT	p.G1024G	NLRP5_uc002qmi.2_Silent_p.G1005G	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1024	LRR 10.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.206107	57.050655	67.548056	27	104	KEEP	---	---	---	---	capture		Silent	SNP	56561898	56561898	10883	19	C	T	T	T	340	27	NLRP5	1	1
PEG3	5178	broad.mit.edu	37	19	57334137	57334137	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57334137G>T	uc002qnu.2	-	c.549C>A	c.(547-549)ACC>ACA	p.T183T	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Silent_p.T58T|ZIM2_uc002qnq.2_Silent_p.T58T|ZIM2_uc010etp.2_Silent_p.T58T|ZIM2_uc010ygs.1_Silent_p.T58T|PEG3_uc002qnt.2_Silent_p.T184T|PEG3_uc002qnv.2_Silent_p.T183T|PEG3_uc002qnw.2_Silent_p.T58T|PEG3_uc002qnx.2_Silent_p.T57T|PEG3_uc010etr.2_Silent_p.T183T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	183					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.125	6.249324	11.744217	5	35	KEEP	---	---	---	---	capture		Silent	SNP	57334137	57334137	12141	19	G	T	T	T	600	47	PEG3	2	2
ZNF329	79673	broad.mit.edu	37	19	58639405	58639405	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58639405C>G	uc002qrn.2	-	c.1466G>C	c.(1465-1467)GGG>GCG	p.G489A	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	489	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)										0.140625	35.70896	51.625064	18	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58639405	58639405	18439	19	C	G	G	G	286	22	ZNF329	3	3
DENND1C	79958	broad.mit.edu	37	19	6468428	6468428	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6468428A>G	uc002mfe.2	-	c.1608T>C	c.(1606-1608)GAT>GAC	p.D536D	DENND1C_uc002mfb.2_Silent_p.D86D|DENND1C_uc002mfc.2_Silent_p.D86D|DENND1C_uc002mfd.2_Silent_p.D86D|DENND1C_uc010xje.1_Silent_p.D492D	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	536						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1														0.085714	1.701191	7.786596	3	32	KEEP	---	---	---	---	capture		Silent	SNP	6468428	6468428	4607	19	A	G	G	G	102	8	DENND1C	4	4
MUC16	94025	broad.mit.edu	37	19	9061000	9061000	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9061000G>C	uc002mkp.2	-	c.26446C>G	c.(26446-26448)CAC>GAC	p.H8816D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8818	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.130952	42.139329	64.381297	22	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9061000	9061000	10367	19	G	C	C	C	585	45	MUC16	3	3
ZNF317	57693	broad.mit.edu	37	19	9271813	9271813	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9271813G>T	uc002mku.2	+	c.1492G>T	c.(1492-1494)GTA>TTA	p.V498L	ZNF317_uc002mkv.2_Missense_Mutation_p.V357L|ZNF317_uc002mkw.2_Missense_Mutation_p.V466L|ZNF317_uc002mkx.2_Missense_Mutation_p.V413L|ZNF317_uc002mky.2_Missense_Mutation_p.V381L	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.232323	55.133602	61.589703	23	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9271813	9271813	18427	19	G	T	T	T	624	48	ZNF317	2	2
ZNF559	84527	broad.mit.edu	37	19	9453698	9453698	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9453698G>T	uc002mle.3	+	c.1763G>T	c.(1762-1764)TGT>TTT	p.C588F	ZNF559_uc002mlf.2_Missense_Mutation_p.C293F|ZNF559_uc010dwl.1_Missense_Mutation_p.C293F|ZNF559_uc010xkn.1_Missense_Mutation_p.C516F|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc010dwk.1_Missense_Mutation_p.C293F|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF559_uc002mlg.2_Missense_Mutation_p.C524F|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.078049	-0.870481	36.458408	16	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9453698	9453698	18585	19	G	T	T	T	624	48	ZNF559	2	2
DBT	1629	broad.mit.edu	37	1	100715330	100715330	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100715330T>A	uc001dta.2	-	c.47A>T	c.(46-48)AAG>ATG	p.K16M	DBT_uc010oug.1_De_novo_Start_OutOfFrame	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	16					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)										0.074866	-5.503923	29.191176	14	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100715330	100715330	4429	1	T	A	A	A	728	56	DBT	3	3
VCAM1	7412	broad.mit.edu	37	1	101203756	101203756	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101203756A>G	uc001dti.2	+	c.2137A>G	c.(2137-2139)ATT>GTT	p.I713V	VCAM1_uc001dtj.2_Missense_Mutation_p.I621V|VCAM1_uc010ouj.1_Missense_Mutation_p.I651V	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	713	Helical; (Potential).				B cell differentiation|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)									0.084084	3.840985	62.385224	28	305	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101203756	101203756	17702	1	A	G	G	G	104	8	VCAM1	4	4
C1orf127	148345	broad.mit.edu	37	1	11008106	11008106	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11008106C>T	uc010oao.1	-	c.1639G>A	c.(1639-1641)GCA>ACA	p.A547T	C1orf127_uc001arr.1_Missense_Mutation_p.A529T|C1orf127_uc001ars.1_Missense_Mutation_p.A521T	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	547										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)										0.088235	0.628918	6.43144	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11008106	11008106	2061	1	C	T	T	T	338	26	C1orf127	2	2
DENND2C	163259	broad.mit.edu	37	1	115143518	115143518	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115143518T>C	uc001efd.1	-	c.1879A>G	c.(1879-1881)AGT>GGT	p.S627G	DENND2C_uc001eez.2_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.S570G	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	627	DENN.										0	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.091954	14.282538	43.44789	16	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115143518	115143518	4609	1	T	C	C	C	728	56	DENND2C	4	4
PTCHD2	57540	broad.mit.edu	37	1	11595692	11595692	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11595692C>A	uc001ash.3	+	c.3807C>A	c.(3805-3807)CAC>CAA	p.H1269Q		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1269	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)										0.113636	3.442388	9.926909	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11595692	11595692	13187	1	C	A	A	A	233	18	PTCHD2	2	2
ATP1A1	476	broad.mit.edu	37	1	116940601	116940601	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:116940601G>T	uc001ege.2	+	c.2065G>T	c.(2065-2067)GTG>TTG	p.V689L	ATP1A1_uc010owv.1_Missense_Mutation_p.V658L|ATP1A1_uc010oww.1_Missense_Mutation_p.V689L|ATP1A1_uc010owx.1_Missense_Mutation_p.V658L|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	689	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)									0.058594	-18.477199	33.768502	15	241	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116940601	116940601	1147	1	G	T	T	T	468	36	ATP1A1	2	2
PHGDH	26227	broad.mit.edu	37	1	120266066	120266066	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120266066T>C	uc001ehz.2	+	c.356_splice	c.e3+2	p.R119_splice	PHGDH_uc009whl.2_Splice_Site_SNP|PHGDH_uc009whm.2_Splice_Site_SNP|PHGDH_uc001eia.2_Splice_Site_SNP_p.R119_splice|PHGDH_uc009whn.2_Splice_Site_SNP_p.R119_splice|PHGDH_uc001eib.2_Splice_Site_SNP_p.R85_splice	NM_006623	NP_006614			phosphoglycerate dehydrogenase						brain development|L-serine biosynthetic process|oxidation-reduction process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)									0.039024	-28.805779	18.16473	8	197	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	120266066	120266066	12264	1	T	C	C	C	741	57	PHGDH	5	4
VPS13D	55187	broad.mit.edu	37	1	12381896	12381896	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12381896G>A	uc001atv.2	+	c.7579G>A	c.(7579-7581)GAT>AAT	p.D2527N	VPS13D_uc001atw.2_Missense_Mutation_p.D2527N|VPS13D_uc001atx.2_Missense_Mutation_p.D1715N|VPS13D_uc001aty.1_Missense_Mutation_p.D265N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2527					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)										0.069307	-9.426783	29.303298	14	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12381896	12381896	17759	1	G	A	A	A	585	45	VPS13D	2	2
HFE2	148738	broad.mit.edu	37	1	145416330	145416330	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145416330G>C	uc001eni.2	+	c.675G>C	c.(673-675)AAG>AAC	p.K225N	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_5'UTR|HFE2_uc001enk.2_Missense_Mutation_p.K112N|HFE2_uc001enl.2_5'UTR	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	225					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.056995	-13.301204	26.450298	11	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145416330	145416330	7365	1	G	C	C	C	425	33	HFE2	3	3
PRPF3	9129	broad.mit.edu	37	1	150315816	150315816	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150315816A>G	uc001eum.3	+	c.1314A>G	c.(1312-1314)GTA>GTG	p.V438V	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.1_Silent_p.V397V|PRPF3_uc010pcb.1_Silent_p.V389V|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	438					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		Ovarian(168;1070 2670 5178 20729)								0.065789	-1.174768	13.680457	5	71	KEEP	---	---	---	---	capture		Silent	SNP	150315816	150315816	13008	1	A	G	G	G	197	16	PRPF3	4	4
FLG	2312	broad.mit.edu	37	1	152279965	152279965	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152279965G>T	uc001ezu.1	-	c.7397C>A	c.(7396-7398)CCG>CAG	p.P2466Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2466	Ser-rich.			P -> R (in Ref. 3; AAA52454).	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.052219	-38.369815	42.773818	20	363	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152279965	152279965	6160	1	G	T	T	T	507	39	FLG	1	1
FLG2	388698	broad.mit.edu	37	1	152325345	152325345	+	Silent	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152325345T>G	uc001ezw.3	-	c.4917A>C	c.(4915-4917)ACA>ACC	p.T1639T		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1639	Filaggrin 6.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.065789	-25.617288	78.817177	35	497	KEEP	---	---	---	---	capture		Silent	SNP	152325345	152325345	6161	1	T	G	G	G	756	59	FLG2	4	4
LCE2D	353141	broad.mit.edu	37	1	152636873	152636873	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152636873G>C	uc001fag.2	+	c.292G>C	c.(292-294)GGG>CGG	p.G98R		NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	98	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.090909	5.62961	26.051135	11	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152636873	152636873	8991	1	G	C	C	C	611	47	LCE2D	3	3
LCE2B	26239	broad.mit.edu	37	1	152659577	152659577	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152659577C>A	uc001fai.2	+	c.258C>A	c.(256-258)CAC>CAA	p.H86Q		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	86	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.075	-6.476224	23.202984	12	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152659577	152659577	8989	1	C	A	A	A	233	18	LCE2B	2	2
KCNN3	3782	broad.mit.edu	37	1	154744658	154744658	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154744658C>A	uc001ffp.2	-	c.1241G>T	c.(1240-1242)CGC>CTC	p.R414L	KCNN3_uc001ffo.2_Missense_Mutation_p.R109L|KCNN3_uc009wox.1_Missense_Mutation_p.R414L	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	419	Helical; Name=Segment S4; (Potential).					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)											0.236111	43.070809	47.63266	17	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154744658	154744658	8385	1	C	A	A	A	351	27	KCNN3	1	1
YY1AP1	55249	broad.mit.edu	37	1	155629622	155629622	+	Silent	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155629622T>G	uc010pgi.1	-	c.2493A>C	c.(2491-2493)TCA>TCC	p.S831S	YY1AP1_uc001flg.2_Silent_p.S478S|YY1AP1_uc010pgg.1_Silent_p.S578S|YY1AP1_uc010pgh.1_Silent_p.S682S|YY1AP1_uc001flh.2_Silent_p.S811S|YY1AP1_uc009wqt.2_Silent_p.S662S|YY1AP1_uc001flk.2_Silent_p.S682S|YY1AP1_uc001fll.2_Silent_p.S693S|YY1AP1_uc009wqv.2_Silent_p.S410S|YY1AP1_uc001flm.2_Silent_p.S682S|YY1AP1_uc001fli.2_Silent_p.S693S|YY1AP1_uc009wqu.2_Silent_p.S526S|YY1AP1_uc001flj.2_Silent_p.S673S|YY1AP1_uc009wqw.2_Silent_p.S662S|YY1AP1_uc001flo.2_Silent_p.S627S|YY1AP1_uc001flp.2_Silent_p.S693S|YY1AP1_uc001fln.2_Silent_p.S739S	NM_139119	NP_620830	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 3	739					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)													0.142857	28.149829	43.675866	18	108	KEEP	---	---	---	---	capture		Silent	SNP	155629622	155629622	18091	1	T	G	G	G	704	55	YY1AP1	4	4
NES	10763	broad.mit.edu	37	1	156639829	156639829	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156639829C>A	uc001fpq.2	-	c.4151G>T	c.(4150-4152)GGG>GTG	p.G1384V		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1384	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.070423	-9.259613	17.906684	10	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156639829	156639829	10736	1	C	A	A	A	286	22	NES	2	2
ARHGEF11	9826	broad.mit.edu	37	1	156907157	156907157	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156907157C>G	uc001fqn.2	-	c.4324G>C	c.(4324-4326)GGA>CGA	p.G1442R	ARHGEF11_uc010phu.1_Missense_Mutation_p.G818R|ARHGEF11_uc001fqo.2_Missense_Mutation_p.G1402R|MIR765_hsa-mir-765|MI0005116_5'Flank	NM_198236	NP_937879	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1402					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|pancreas(1)|lung(1)|kidney(1)|pleura(1)	7	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.073171	-3.915404	11.455181	6	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156907157	156907157	910	1	C	G	G	G	286	22	ARHGEF11	3	3
FCRL3	115352	broad.mit.edu	37	1	157660280	157660280	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157660280G>A	uc001fqz.3	-	c.1455C>T	c.(1453-1455)GCC>GCT	p.A485A	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Silent_p.A211A|FCRL3_uc001frb.2_Silent_p.A485A|FCRL3_uc001frc.1_Silent_p.A485A	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	485	Ig-like C2-type 6.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.161491	48.514518	66.01335	26	135	KEEP	---	---	---	---	capture		Silent	SNP	157660280	157660280	6033	1	G	A	A	A	548	43	FCRL3	2	2
CD1A	909	broad.mit.edu	37	1	158226612	158226612	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158226612C>A	uc001frt.2	+	c.641C>A	c.(640-642)CCT>CAT	p.P214H		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	214	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)	2	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)									0.124088	39.201805	77.032046	34	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158226612	158226612	3101	1	C	A	A	A	312	24	CD1A	2	2
CD1A	909	broad.mit.edu	37	1	158227279	158227279	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158227279G>T	uc001frt.2	+	c.952G>T	c.(952-954)GCG>TCG	p.A318S		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	318	Helical; (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)	2	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)									0.032904	-125.156897	41.231603	23	676	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158227279	158227279	3101	1	G	T	T	T	598	46	CD1A	2	2
PYHIN1	149628	broad.mit.edu	37	1	158913723	158913723	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158913723G>T	uc001ftb.2	+	c.1146G>T	c.(1144-1146)AGG>AGT	p.R382S	PYHIN1_uc001ftc.2_Missense_Mutation_p.R373S|PYHIN1_uc001ftd.2_Missense_Mutation_p.R382S|PYHIN1_uc001fte.2_Missense_Mutation_p.R373S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	382	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.041096	-21.976985	11.116753	6	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158913723	158913723	13323	1	G	T	T	T	555	43	PYHIN1	2	2
FCRL6	343413	broad.mit.edu	37	1	159785243	159785243	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159785243G>T	uc001fud.3	+	c.1173G>T	c.(1171-1173)GGG>GGT	p.G391G	FCRL6_uc001fuc.2_Silent_p.G398G|FCRL6_uc009wsz.1_Silent_p.G296G|FCRL6_uc009wta.2_Intron	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	391	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2	all_hematologic(112;0.0597)													0.116667	16.550887	42.420178	21	159	KEEP	---	---	---	---	capture		Silent	SNP	159785243	159785243	6036	1	G	T	T	T	522	41	FCRL6	2	2
IGSF8	93185	broad.mit.edu	37	1	160064892	160064892	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160064892T>A	uc001fva.2	-	c.209A>T	c.(208-210)GAG>GTG	p.E70V	IGSF8_uc001fuz.2_Missense_Mutation_p.E70V|IGSF8_uc009wtf.2_Missense_Mutation_p.E70V	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	70	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)											0.052133	-24.628799	20.146048	11	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160064892	160064892	7905	1	T	A	A	A	702	54	IGSF8	3	3
VANGL2	57216	broad.mit.edu	37	1	160389144	160389144	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160389144G>C	uc001fwb.1	+	c.545G>C	c.(544-546)CGT>CCT	p.R182P	VANGL2_uc001fwc.1_Missense_Mutation_p.R182P	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	182	Helical; Name=3; (Potential).				apical protein localization|heart looping|sensory cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.038462	-68.786866	38.805601	18	450	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160389144	160389144	17685	1	G	C	C	C	520	40	VANGL2	3	3
CD84	8832	broad.mit.edu	37	1	160535445	160535445	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160535445G>T	uc001fwh.3	-	c.137C>A	c.(136-138)CCA>CAA	p.P46Q	CD84_uc001fwf.3_Missense_Mutation_p.P46Q|CD84_uc001fwg.3_Missense_Mutation_p.P46Q|CD84_uc009wtn.2_Missense_Mutation_p.P46Q|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Missense_Mutation_p.P46Q|CD84_uc001fwk.2_Missense_Mutation_p.P46Q	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	46	Extracellular (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)	3	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)											0.07732	-3.912131	31.559597	15	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160535445	160535445	3170	1	G	T	T	T	611	47	CD84	2	2
ITLN2	142683	broad.mit.edu	37	1	160920955	160920955	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160920955T>C	uc001fxd.2	-	c.319A>G	c.(319-321)ACG>GCG	p.T107A	ITLN2_uc009wts.2_Missense_Mutation_p.T106A|ITLN2_uc010pju.1_Missense_Mutation_p.T24A	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	107	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											0.150943	12.472123	18.656431	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160920955	160920955	8215	1	T	C	C	C	767	59	ITLN2	4	4
APOA2	336	broad.mit.edu	37	1	161192312	161192312	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161192312C>T	uc001fzc.1	-	c.186G>A	c.(184-186)AAG>AAA	p.K62K	APOA2_uc001fzb.1_Non-coding_Transcript	NM_001643	NP_001634	P02652	APOA2_HUMAN	apolipoprotein A-II preproprotein	62					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity				0	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.089872	18.865382	137.818409	63	638	KEEP	---	---	---	---	capture		Silent	SNP	161192312	161192312	793	1	C	T	T	T	233	18	APOA2	2	2
MPZ	4359	broad.mit.edu	37	1	161279650	161279650	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161279650C>A	uc001gaf.3	-	c.76G>T	c.(76-78)GTG>TTG	p.V26L	MPZ_uc010pko.1_Non-coding_Transcript	NM_000530	NP_000521	P25189	MYP0_HUMAN	myelin protein zero	16					synaptic transmission	integral to plasma membrane	structural molecule activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.333333	6.548325	6.695766	2	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161279650	161279650	10140	1	C	A	A	A	221	17	MPZ	2	2
RXRG	6258	broad.mit.edu	37	1	165380195	165380195	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165380195C>G	uc001gda.2	-	c.774G>C	c.(772-774)ATG>ATC	p.M258I		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	258	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)									0.048193	-19.438485	16.605682	8	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165380195	165380195	14245	1	C	G	G	G	273	21	RXRG	3	3
ILDR2	387597	broad.mit.edu	37	1	166896340	166896340	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166896340C>T	uc001gdx.1	-	c.958G>A	c.(958-960)GCT>ACT	p.A320T		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	320	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1														0.070312	-13.70595	35.045233	18	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166896340	166896340	8011	1	C	T	T	T	338	26	ILDR2	2	2
DUSP27	92235	broad.mit.edu	37	1	167096069	167096069	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167096069C>T	uc001geb.1	+	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	567					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.094937	8.509831	34.536742	15	143	KEEP	---	---	---	---	capture		Silent	SNP	167096069	167096069	5009	1	C	T	T	T	350	27	DUSP27	1	1
FMO1	2326	broad.mit.edu	37	1	171244600	171244600	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171244600G>C	uc009wvz.2	+	c.437G>C	c.(436-438)TGC>TCC	p.C146S	FMO1_uc010pme.1_Missense_Mutation_p.C83S|FMO1_uc001ghl.2_Missense_Mutation_p.C146S|FMO1_uc001ghm.2_Missense_Mutation_p.C146S|FMO1_uc001ghn.2_Missense_Mutation_p.C146S	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	146					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.061404	-14.64792	53.95299	21	321	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171244600	171244600	6196	1	G	C	C	C	598	46	FMO1	3	3
C1orf9	51430	broad.mit.edu	37	1	172557949	172557949	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:172557949G>T	uc001giq.3	+	c.1708G>T	c.(1708-1710)GAT>TAT	p.D570Y	C1orf9_uc010pmm.1_Missense_Mutation_p.D570Y|C1orf9_uc009wwd.2_Missense_Mutation_p.D526Y|C1orf9_uc010pmn.1_Missense_Mutation_p.D533Y|C1orf9_uc010pmo.1_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	570					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		Colon(43;174 953 11768 38880 47057)								0.097561	1.966972	8.61914	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172557949	172557949	2143	1	G	T	T	T	429	33	C1orf9	2	2
TNR	7143	broad.mit.edu	37	1	175331925	175331925	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175331925C>A	uc001gkp.1	-	c.2728G>T	c.(2728-2730)GTG>TTG	p.V910L	TNR_uc009wwu.1_Missense_Mutation_p.V910L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	910	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.152263	62.722416	90.850986	37	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175331925	175331925	16879	1	C	A	A	A	260	20	TNR	2	2
PAPPA2	60676	broad.mit.edu	37	1	176668472	176668472	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176668472C>A	uc001gkz.2	+	c.2983C>A	c.(2983-2985)CAC>AAC	p.H995N	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	995					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.04077	-138.299336	62.527201	36	847	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176668472	176668472	11850	1	C	A	A	A	325	25	PAPPA2	2	2
SEC16B	89866	broad.mit.edu	37	1	177909803	177909803	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177909803C>T	uc001glj.1	-	c.2072G>A	c.(2071-2073)CGC>CAC	p.R691H	SEC16B_uc001glk.1_Missense_Mutation_p.R367H|SEC16B_uc009wwy.1_Missense_Mutation_p.R245H|SEC16B_uc001glh.1_Missense_Mutation_p.R349H|SEC16B_uc009wwz.1_Missense_Mutation_p.R349H|SEC16B_uc001gli.1_Missense_Mutation_p.R690H	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	690					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4														0.072727	-1.340208	8.98657	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177909803	177909803	14473	1	C	T	T	T	351	27	SEC16B	1	1
ABL2	27	broad.mit.edu	37	1	179076925	179076925	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179076925C>A	uc001gmj.3	-	c.3477G>T	c.(3475-3477)GTG>GTT	p.V1159V	ABL2_uc010pnf.1_Silent_p.V1056V|ABL2_uc010png.1_Silent_p.V1035V|ABL2_uc010pnh.1_Silent_p.V1138V|ABL2_uc001gmg.3_Silent_p.V1041V|ABL2_uc001gmi.3_Silent_p.V1144V|ABL2_uc001gmh.3_Silent_p.V1123V|ABL2_uc010pne.1_Silent_p.V1020V	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	1159					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|breast(2)|central_nervous_system(1)	9					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)					285				0.071429	-4.405027	11.49357	6	78	KEEP	---	---	---	---	capture		Silent	SNP	179076925	179076925	94	1	C	A	A	A	314	25	ABL2	2	2
TDRD5	163589	broad.mit.edu	37	1	179620108	179620108	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179620108T>A	uc010pnp.1	+	c.1907T>A	c.(1906-1908)TTG>TAG	p.L636*	TDRD5_uc001gnf.1_Nonsense_Mutation_p.L636*|TDRD5_uc001gnh.1_Nonsense_Mutation_p.L191*	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	636					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.04584	-76.449056	53.250511	27	562	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	179620108	179620108	16260	1	T	A	A	A	819	63	TDRD5	5	3
CACNA1E	777	broad.mit.edu	37	1	181702695	181702695	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181702695A>G	uc001gow.2	+	c.3071A>G	c.(3070-3072)CAG>CGG	p.Q1024R	CACNA1E_uc009wxs.2_Missense_Mutation_p.Q912R|CACNA1E_uc001gox.1_Missense_Mutation_p.Q250R|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q250R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1024	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.073171	-1.701678	13.6533	6	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181702695	181702695	2658	1	A	G	G	G	91	7	CACNA1E	4	4
CACNA1E	777	broad.mit.edu	37	1	181706782	181706782	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181706782C>T	uc001gow.2	+	c.3544C>T	c.(3544-3546)CGC>TGC	p.R1182C	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1070C|CACNA1E_uc001gox.1_Missense_Mutation_p.R408C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R408C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1182	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.094828	1.811312	39.934273	22	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181706782	181706782	2658	1	C	T	T	T	351	27	CACNA1E	1	1
LAMC2	3918	broad.mit.edu	37	1	183177098	183177098	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183177098C>G	uc001gqa.2	+	c.162C>G	c.(160-162)CTC>CTG	p.L54L	LAMC2_uc001gpz.3_Silent_p.L54L|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	54	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1														0.124146	189.763842	310.946212	109	769	KEEP	---	---	---	---	capture		Silent	SNP	183177098	183177098	8938	1	C	G	G	G	366	29	LAMC2	3	3
C1orf21	81563	broad.mit.edu	37	1	184567578	184567578	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:184567578G>A	uc001gqv.1	+	c.310G>A	c.(310-312)GAT>AAT	p.D104N		NM_030806	NP_110433	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	104											0		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)										0.125	9.784694	17.479077	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184567578	184567578	2097	1	G	A	A	A	533	41	C1orf21	2	2
HMCN1	83872	broad.mit.edu	37	1	186059944	186059944	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186059944G>A	uc001grq.1	+	c.9782G>A	c.(9781-9783)GGA>GAA	p.G3261E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3261	Ig-like C2-type 31.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.05364	-27.754368	27.107267	14	247	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186059944	186059944	7511	1	G	A	A	A	533	41	HMCN1	2	2
HMCN1	83872	broad.mit.edu	37	1	186113345	186113345	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186113345C>A	uc001grq.1	+	c.13965C>A	c.(13963-13965)TGC>TGA	p.C4655*	HMCN1_uc001grs.1_Nonsense_Mutation_p.C224*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4655	TSP type-1 3.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.054745	-28.592745	28.633535	15	259	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	186113345	186113345	7511	1	C	A	A	A	324	25	HMCN1	5	2
HMCN1	83872	broad.mit.edu	37	1	186147665	186147665	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186147665G>A	uc001grq.1	+	c.16061G>A	c.(16060-16062)TGC>TAC	p.C5354Y	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5354	EGF-like 6; calcium-binding (Potential).				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.032129	-144.36935	34.447493	24	723	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186147665	186147665	7511	1	G	A	A	A	598	46	HMCN1	2	2
FAM5C	339479	broad.mit.edu	37	1	190067308	190067308	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067308G>C	uc001gse.1	-	c.2141C>G	c.(2140-2142)TCC>TGC	p.S714C	FAM5C_uc010pot.1_Missense_Mutation_p.S612C	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	714						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.059701	-9.550418	31.203701	12	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190067308	190067308	5817	1	G	C	C	C	533	41	FAM5C	3	3
KCNT2	343450	broad.mit.edu	37	1	196434485	196434485	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196434485C>A	uc001gtd.1	-	c.576G>T	c.(574-576)CAG>CAT	p.Q192H	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q192H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q192H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.2_Missense_Mutation_p.Q192H|KCNT2_uc009wyv.1_Missense_Mutation_p.Q167H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	192	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.143564	45.322843	70.064627	29	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196434485	196434485	8397	1	C	A	A	A	259	20	KCNT2	2	2
PPFIA4	8497	broad.mit.edu	37	1	203029443	203029443	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203029443G>T	uc010pqf.1	+	c.1803G>T	c.(1801-1803)CGG>CGT	p.R601R	PPFIA4_uc009xaj.2_Silent_p.R1019R|PPFIA4_uc001gyz.2_Silent_p.R388R|PPFIA4_uc001gza.2_Silent_p.R388R|PPFIA4_uc001gzb.1_Silent_p.R83R	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	388	SAM 1.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5														0.064327	-13.813088	19.943974	11	160	KEEP	---	---	---	---	capture		Silent	SNP	203029443	203029443	12742	1	G	T	T	T	548	43	PPFIA4	2	2
PLA2G2C	391013	broad.mit.edu	37	1	20490554	20490554	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20490554G>T	uc009vpq.1	-	c.383C>A	c.(382-384)CCC>CAC	p.P128H		NM_001105572	NP_001099042			phospholipase A2, group IIC precursor												0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)										0.086957	0.609929	8.515271	4	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20490554	20490554	12422	1	G	T	T	T	559	43	PLA2G2C	2	2
CNTN2	6900	broad.mit.edu	37	1	205034237	205034237	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205034237C>A	uc001hbr.2	+	c.1542C>A	c.(1540-1542)GCC>GCA	p.A514A	CNTN2_uc001hbq.1_Silent_p.A405A|CNTN2_uc001hbs.2_Silent_p.A302A	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	514	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			Melanoma(183;2548 2817 37099 41192)								0.035714	-22.632825	10.125262	5	135	KEEP	---	---	---	---	capture		Silent	SNP	205034237	205034237	3779	1	C	A	A	A	275	22	CNTN2	2	2
SLC41A1	254428	broad.mit.edu	37	1	205779243	205779243	+	Silent	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205779243T>G	uc001hdh.1	-	c.327A>C	c.(325-327)GCA>GCC	p.A109A		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	109	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity				0	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)											0.121951	17.04222	34.260479	15	108	KEEP	---	---	---	---	capture		Silent	SNP	205779243	205779243	15126	1	T	G	G	G	704	55	SLC41A1	4	4
C4BPA	722	broad.mit.edu	37	1	207300151	207300151	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207300151G>T	uc001hfo.2	+	c.800G>T	c.(799-801)TGC>TTC	p.C267F		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	267	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)	2														0.054237	-30.709596	31.067561	16	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207300151	207300151	2344	1	G	T	T	T	598	46	C4BPA	2	2
CR2	1380	broad.mit.edu	37	1	207642565	207642565	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207642565C>A	uc001hfv.2	+	c.805C>A	c.(805-807)CCA>ACA	p.P269T	CR2_uc001hfw.2_Missense_Mutation_p.P269T|CR2_uc009xch.2_Missense_Mutation_p.P269T|CR2_uc009xci.1_5'Flank	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	269	Sushi 4.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.044355	-35.269998	19.820929	11	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207642565	207642565	3981	1	C	A	A	A	338	26	CR2	2	2
KCNH1	3756	broad.mit.edu	37	1	211280669	211280669	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:211280669A>G	uc001hib.2	-	c.130T>C	c.(130-132)TAC>CAC	p.Y44H	KCNH1_uc001hic.2_Missense_Mutation_p.Y44H	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	44	Cytoplasmic (Potential).|PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)										0.082474	10.962637	45.346578	16	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211280669	211280669	8336	1	A	G	G	G	182	14	KCNH1	4	4
PROX1	5629	broad.mit.edu	37	1	214171089	214171089	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214171089C>A	uc001hkh.2	+	c.1211C>A	c.(1210-1212)ACC>AAC	p.T404N	PROX1_uc001hkg.1_Missense_Mutation_p.T404N	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	404					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of gene-specific transcription|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(3)|lung(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)										0.037267	-52.694229	21.913465	12	310	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214171089	214171089	13003	1	C	A	A	A	234	18	PROX1	2	2
CENPF	1063	broad.mit.edu	37	1	214830567	214830567	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214830567A>G	uc001hkm.2	+	c.8777A>G	c.(8776-8778)AAT>AGT	p.N2926S		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	3022	Sufficient for nuclear localization.|Nuclear localization signal (Potential).|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.106576	60.498612	128.316907	47	394	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214830567	214830567	3364	1	A	G	G	G	52	4	CENPF	4	4
USH2A	7399	broad.mit.edu	37	1	215847652	215847652	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215847652C>T	uc001hku.1	-	c.13601G>A	c.(13600-13602)GGG>GAG	p.G4534E		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4534	Fibronectin type-III 31.|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)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.05625	-28.090132	38.11919	18	302	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215847652	215847652	17598	1	C	T	T	T	286	22	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216019177	216019177	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216019177G>C	uc001hku.1	-	c.9044C>G	c.(9043-9045)ACT>AGT	p.T3015S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3015	Fibronectin type-III 16.|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)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.126582	33.379056	54.89096	20	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216019177	216019177	17598	1	G	C	C	C	468	36	USH2A	3	3
ECE1	1889	broad.mit.edu	37	1	21605684	21605684	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21605684T>C	uc001bek.2	-	c.280A>G	c.(280-282)AGA>GGA	p.R94G	ECE1_uc001bem.2_Missense_Mutation_p.R78G|ECE1_uc001bej.2_Missense_Mutation_p.R82G|ECE1_uc001bei.2_Missense_Mutation_p.R91G|ECE1_uc010odl.1_Missense_Mutation_p.R94G|ECE1_uc009vqa.1_Missense_Mutation_p.R94G	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	94	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|peptide hormone binding|protein homodimerization activity			ovary(2)	2		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)										0.15	13.422891	18.120253	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21605684	21605684	5076	1	T	C	C	C	726	56	ECE1	4	4
USH2A	7399	broad.mit.edu	37	1	216270503	216270503	+	Silent	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216270503T>G	uc001hku.1	-	c.4680A>C	c.(4678-4680)GCA>GCC	p.A1560A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1560	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)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.056604	-16.358626	16.504003	9	150	KEEP	---	---	---	---	capture		Silent	SNP	216270503	216270503	17598	1	T	G	G	G	704	55	USH2A	4	4
USH2A	7399	broad.mit.edu	37	1	216495249	216495249	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216495249C>A	uc001hku.1	-	c.1620G>T	c.(1618-1620)CAG>CAT	p.Q540H	USH2A_uc001hkv.2_Missense_Mutation_p.Q540H	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	540	Laminin EGF-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)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.040486	-37.265388	18.911664	10	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216495249	216495249	17598	1	C	A	A	A	311	24	USH2A	2	2
ESRRG	2104	broad.mit.edu	37	1	216850597	216850597	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216850597C>T	uc001hkx.1	-	c.308G>A	c.(307-309)AGG>AAG	p.R103K	ESRRG_uc001hky.1_Missense_Mutation_p.R75K|ESRRG_uc009xdp.1_Missense_Mutation_p.R75K|ESRRG_uc001hkz.1_Missense_Mutation_p.R75K|ESRRG_uc010puc.1_Missense_Mutation_p.R75K|ESRRG_uc001hla.1_Missense_Mutation_p.R75K|ESRRG_uc001hlb.1_Missense_Mutation_p.R75K|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.R75K|ESRRG_uc001hld.1_Missense_Mutation_p.R75K|ESRRG_uc009xdo.1_Missense_Mutation_p.R75K|ESRRG_uc001hkw.1_Missense_Mutation_p.R98K|ESRRG_uc001hle.1_Missense_Mutation_p.R75K	NM_206595	NP_996318	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 2	98					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)									0.05	-33.472501	35.263027	16	304	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216850597	216850597	5455	1	C	T	T	T	312	24	ESRRG	2	2
ESRRG	2104	broad.mit.edu	37	1	216850620	216850620	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216850620G>T	uc001hkx.1	-	c.285C>A	c.(283-285)ATC>ATA	p.I95I	ESRRG_uc001hky.1_Silent_p.I67I|ESRRG_uc009xdp.1_Silent_p.I67I|ESRRG_uc001hkz.1_Silent_p.I67I|ESRRG_uc010puc.1_Silent_p.I67I|ESRRG_uc001hla.1_Silent_p.I67I|ESRRG_uc001hlb.1_Silent_p.I67I|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.I67I|ESRRG_uc001hld.1_Silent_p.I67I|ESRRG_uc009xdo.1_Silent_p.I67I|ESRRG_uc001hkw.1_Silent_p.I90I|ESRRG_uc001hle.1_Silent_p.I67I	NM_206595	NP_996318	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 2	90					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)									0.06015	-25.632479	28.219619	16	250	KEEP	---	---	---	---	capture		Silent	SNP	216850620	216850620	5455	1	G	T	T	T	525	41	ESRRG	2	2
GPATCH2	55105	broad.mit.edu	37	1	217665055	217665055	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:217665055T>G	uc001hlf.1	-	c.1244A>C	c.(1243-1245)CAC>CCC	p.H415P	GPATCH2_uc009xdq.1_Non-coding_Transcript	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	415						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)										0.044554	-28.198535	16.774427	9	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	217665055	217665055	6865	1	T	G	G	G	767	59	GPATCH2	4	4
TGFB2	7042	broad.mit.edu	37	1	218614643	218614643	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:218614643G>T	uc001hln.2	+	c.1268G>T	c.(1267-1269)GGC>GTC	p.G423V	TGFB2_uc001hlm.2_Missense_Mutation_p.G395V|TGFB2_uc010pue.1_Non-coding_Transcript|TGFB2_uc001hlo.2_Non-coding_Transcript	NM_001135599	NP_001129071	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 1	395					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)						137				0.19403	83.112493	100.668139	39	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218614643	218614643	16346	1	G	T	T	T	546	42	TGFB2	2	2
BPNT1	10380	broad.mit.edu	37	1	220236273	220236273	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220236273C>A	uc001hma.2	-	c.498G>T	c.(496-498)GGG>GGT	p.G166G	BPNT1_uc010pug.1_Silent_p.G111G|BPNT1_uc010puh.1_Silent_p.G130G|BPNT1_uc001hmb.3_Silent_p.G181G	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)										0.096774	0.798369	10.914688	6	56	KEEP	---	---	---	---	capture		Silent	SNP	220236273	220236273	1522	1	C	A	A	A	379	30	BPNT1	2	2
WNT3A	89780	broad.mit.edu	37	1	228210455	228210456	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228210455_228210456CC>AT	uc001hrp.1	+	c.159_160CC>AT	c.(157-162)CTCCGC>CTATGC	p.R54C	WNT3A_uc001hrq.1_Missense_Mutation_p.R54C	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	54					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of heart induction by canonical Wnt receptor signaling pathway|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)												0.104167	2.037101	9.527736	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	228210455	228210456	17963	1	CC	AT	AT	AT	379	30	WNT3A	2	2
EPHA8	2046	broad.mit.edu	37	1	22895780	22895780	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22895780A>T	uc001bfx.1	+	c.95_splice	c.e2-2	p.V32_splice	EPHA8_uc001bfw.2_Splice_Site_SNP_p.V32_splice	NM_020526	NP_065387			ephrin receptor EphA8 isoform 1 precursor						protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)						520				0.094017	5.683041	25.043054	11	106	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	22895780	22895780	5366	1	A	T	T	T	91	7	EPHA8	5	3
KCNK1	3775	broad.mit.edu	37	1	233802359	233802359	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233802359C>A	uc010pxo.1	+	c.374C>A	c.(373-375)CCC>CAC	p.P125H	KCNK1_uc001hvw.2_Non-coding_Transcript|KCNK1_uc001hvx.2_Non-coding_Transcript	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	125						voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)									0.055556	-24.201484	24.334994	13	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233802359	233802359	8363	1	C	A	A	A	286	22	KCNK1	2	2
KCNK1	3775	broad.mit.edu	37	1	233802735	233802735	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233802735G>A	uc010pxo.1	+	c.750G>A	c.(748-750)ACG>ACA	p.T250T	KCNK1_uc001hvw.2_Non-coding_Transcript|KCNK1_uc001hvx.2_Non-coding_Transcript	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	250	Helical; (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)									0.088083	3.326933	36.445556	17	176	KEEP	---	---	---	---	capture		Silent	SNP	233802735	233802735	8363	1	G	A	A	A	509	40	KCNK1	1	1
IRF2BP2	359948	broad.mit.edu	37	1	234742946	234742946	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234742946C>G	uc001hwg.2	-	c.1701G>C	c.(1699-1701)ATG>ATC	p.M567I	IRF2BP2_uc009xfw.2_Missense_Mutation_p.M177I|IRF2BP2_uc001hwf.2_Missense_Mutation_p.M551I	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)											0.044118	-15.270789	14.986085	6	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234742946	234742946	8133	1	C	G	G	G	325	25	IRF2BP2	3	3
GNG4	2786	broad.mit.edu	37	1	235747043	235747043	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235747043G>C	uc001hxe.3	-	c.96C>G	c.(94-96)GTC>GTG	p.V32V	GNG4_uc009xfz.2_Silent_p.V32V|GNG4_uc001hxh.3_Silent_p.V32V	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein),	32					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)											0.1	7.572729	18.759952	7	63	KEEP	---	---	---	---	capture		Silent	SNP	235747043	235747043	6798	1	G	C	C	C	574	45	GNG4	3	3
LYST	1130	broad.mit.edu	37	1	235922285	235922285	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235922285C>A	uc001hxj.2	-	c.6868G>T	c.(6868-6870)GCA>TCA	p.A2290S	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2290					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)											0.042683	-23.403429	13.390752	7	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235922285	235922285	9505	1	C	A	A	A	325	25	LYST	2	2
ACTN2	88	broad.mit.edu	37	1	236891006	236891006	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236891006C>A	uc001hyf.2	+	c.565C>A	c.(565-567)CTC>ATC	p.L189I	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.L189I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	189	CH 2.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.066116	-8.20353	15.435891	8	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236891006	236891006	206	1	C	A	A	A	312	24	ACTN2	2	2
RYR2	6262	broad.mit.edu	37	1	237660032	237660032	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237660032A>T	uc001hyl.1	+	c.2183A>T	c.(2182-2184)GAT>GTT	p.D728V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	728	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.048689	-32.289452	25.466816	13	254	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237660032	237660032	14249	1	A	T	T	T	156	12	RYR2	3	3
ZP4	57829	broad.mit.edu	37	1	238045748	238045748	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238045748T>A	uc001hym.2	-	c.1597A>T	c.(1597-1599)AGT>TGT	p.S533C	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	533	Cytoplasmic (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.056277	-23.915197	23.966527	13	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238045748	238045748	18822	1	T	A	A	A	702	54	ZP4	3	3
RGS7	6000	broad.mit.edu	37	1	240966289	240966289	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240966289T>A	uc001hyv.2	-	c.1274A>T	c.(1273-1275)CAC>CTC	p.H425L	RGS7_uc010pyh.1_Missense_Mutation_p.H399L|RGS7_uc010pyj.1_Missense_Mutation_p.H341L|RGS7_uc001hyu.2_Missense_Mutation_p.H425L|RGS7_uc009xgn.1_Missense_Mutation_p.H372L|RGS7_uc001hyw.2_Missense_Mutation_p.H425L|RGS7_uc001hyt.2_Missense_Mutation_p.H257L	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	425	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|kidney(1)	5		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)											0.088435	8.625949	33.731733	13	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240966289	240966289	13784	1	T	A	A	A	767	59	RGS7	3	3
EXO1	9156	broad.mit.edu	37	1	242020668	242020668	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242020668G>T	uc001hzh.2	+	c.427G>T	c.(427-429)GAT>TAT	p.D143Y	EXO1_uc001hzi.2_Missense_Mutation_p.D143Y|EXO1_uc001hzj.2_Missense_Mutation_p.D143Y|EXO1_uc009xgq.2_Missense_Mutation_p.D143Y	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	143	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)											0.089431	4.365819	46.238628	22	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242020668	242020668	5493	1	G	T	T	T	429	33	EXO1	2	2
PLD5	200150	broad.mit.edu	37	1	242451774	242451774	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242451774G>T	uc001hzo.1	-	c.109C>A	c.(109-111)CAC>AAC	p.H37N	PLD5_uc001hzl.3_Missense_Mutation_p.H67N|PLD5_uc001hzm.3_Intron|PLD5_uc001hzn.1_Missense_Mutation_p.H129N	NM_152666	NP_689879	Q8N7P1	PLD5_HUMAN	phospholipase D5	129						integral to membrane	catalytic activity			ovary(5)	5	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)											0.136	19.270615	35.351175	17	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242451774	242451774	12475	1	G	T	T	T	585	45	PLD5	2	2
MYOM3	127294	broad.mit.edu	37	1	24433565	24433565	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24433565G>T	uc001bin.3	-	c.400C>A	c.(400-402)CGG>AGG	p.R134R	MYOM3_uc001bio.2_Silent_p.R134R|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	134	Potential.									ovary(1)	1		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)										0.136364	5.278915	8.038005	3	19	KEEP	---	---	---	---	capture		Silent	SNP	24433565	24433565	10488	1	G	T	T	T	493	38	MYOM3	1	1
C1orf101	257044	broad.mit.edu	37	1	244724073	244724073	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:244724073A>T	uc001iam.2	+	c.1133A>T	c.(1132-1134)AAA>ATA	p.K378I	C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.2_Missense_Mutation_p.K378I|C1orf101_uc010pym.1_Missense_Mutation_p.K227I|C1orf101_uc010pyn.1_Missense_Mutation_p.K311I	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	378	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)											0.04908	-20.822869	14.376555	8	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	244724073	244724073	2043	1	A	T	T	T	13	1	C1orf101	3	3
IL28RA	163702	broad.mit.edu	37	1	24484251	24484251	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24484251G>T	uc001bis.2	-	c.932C>A	c.(931-933)CCA>CAA	p.P311Q	IL28RA_uc001bir.2_Missense_Mutation_p.P282Q|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Missense_Mutation_p.P227Q	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	311	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)										0.065217	-36.711497	80.572116	39	559	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24484251	24484251	7985	1	G	T	T	T	611	47	IL28RA	2	2
TFB2M	64216	broad.mit.edu	37	1	246729385	246729385	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:246729385C>A	uc001ibn.2	-	c.56G>T	c.(55-57)GGC>GTC	p.G19V	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_Non-coding_Transcript	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	19					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)											0.108108	2.222477	7.816385	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	246729385	246729385	16322	1	C	A	A	A	338	26	TFB2M	2	2
OR2C3	81472	broad.mit.edu	37	1	247695078	247695078	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695078C>A	uc009xgy.2	-	c.736G>T	c.(736-738)GTG>TTG	p.V246L	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.056338	-10.79619	18.556041	8	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247695078	247695078	11399	1	C	A	A	A	247	19	OR2C3	1	1
OR13G1	441933	broad.mit.edu	37	1	247835758	247835758	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247835758C>G	uc001idi.1	-	c.586G>C	c.(586-588)GTG>CTG	p.V196L		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.047619	-12.544248	14.89144	6	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247835758	247835758	11348	1	C	G	G	G	234	18	OR13G1	3	3
NIPAL3	57185	broad.mit.edu	37	1	24795651	24795651	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24795651C>G	uc001bjh.2	+	c.1197C>G	c.(1195-1197)GTC>GTG	p.V399V	NIPAL3_uc009vrc.2_Silent_p.V317V	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	399						integral to membrane					0														0.072727	-1.590625	8.716118	4	51	KEEP	---	---	---	---	capture		Silent	SNP	24795651	24795651	10827	1	C	G	G	G	379	30	NIPAL3	3	3
OR2L2	26246	broad.mit.edu	37	1	248202223	248202223	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248202223C>A	uc001idw.2	+	c.654C>A	c.(652-654)GGC>GGA	p.G218G	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	218	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.102757	24.701692	87.35271	41	358	KEEP	---	---	---	---	capture		Silent	SNP	248202223	248202223	11413	1	C	A	A	A	327	26	OR2L2	2	2
OR14C36	127066	broad.mit.edu	37	1	248512941	248512941	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248512941A>T	uc010pzl.1	+	c.865A>T	c.(865-867)AGT>TGT	p.S289C		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.126482	44.217174	78.680261	32	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248512941	248512941	11352	1	A	T	T	T	91	7	OR14C36	3	3
OR2T1	26696	broad.mit.edu	37	1	248569848	248569848	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248569848C>A	uc010pzm.1	+	c.553C>A	c.(553-555)CTC>ATC	p.L185I		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	185	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	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)											0.133929	19.042252	33.611351	15	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248569848	248569848	11422	1	C	A	A	A	312	24	OR2T1	2	2
OR2T2	401992	broad.mit.edu	37	1	248616140	248616141	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248616140_248616141CC>AA	uc001iek.1	+	c.42_43CC>AA	c.(40-45)GTCCTC>GTAATC	p.L15I		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	15	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)											0.101266	13.206672	50.922337	24	213	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	248616140	248616141	11426	1	CC	AA	AA	AA	379	30	OR2T2	2	2
ARID1A	8289	broad.mit.edu	37	1	27097665	27097665	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27097665C>G	uc001bmv.1	+	c.3254C>G	c.(3253-3255)TCA>TGA	p.S1085*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.S1085*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.S1085*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.S702*|ARID1A_uc001bmx.1_De_novo_Start_OutOfFrame|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1085	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity			ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)						478				0.113043	14.888966	31.889183	13	102	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27097665	27097665	928	1	C	G	G	G	377	29	ARID1A	5	3
PRDM16	63976	broad.mit.edu	37	1	3342312	3342312	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3342312C>T	uc001akf.2	+	c.3107C>T	c.(3106-3108)CCA>CTA	p.P1036L	PRDM16_uc001akc.2_Missense_Mutation_p.P1035L|PRDM16_uc001akd.2_Missense_Mutation_p.P1035L|PRDM16_uc001ake.2_Missense_Mutation_p.P1036L|PRDM16_uc009vlh.2_Missense_Mutation_p.P736L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1036	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)						1161				0.113208	1.094433	8.987381	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3342312	3342312	12899	1	C	T	T	T	273	21	PRDM16	2	2
CSMD2	114784	broad.mit.edu	37	1	34076770	34076770	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34076770T>A	uc001bxm.1	-	c.6214A>T	c.(6214-6216)AGC>TGC	p.S2072C	CSMD2_uc001bxn.1_Missense_Mutation_p.S2032C|CSMD2_uc001bxo.1_Missense_Mutation_p.S945C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2032	CUB 12.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.04698	-17.982118	14.585509	7	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34076770	34076770	4086	1	T	A	A	A	715	55	CSMD2	3	3
CSMD2	114784	broad.mit.edu	37	1	34100922	34100922	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34100922C>A	uc001bxm.1	-	c.4978G>T	c.(4978-4980)GGG>TGG	p.G1660W	CSMD2_uc001bxn.1_Missense_Mutation_p.G1620W|CSMD2_uc001bxo.1_Missense_Mutation_p.G533W	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1620	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)										OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.1	3.803096	13.396218	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34100922	34100922	4086	1	C	A	A	A	273	21	CSMD2	2	2
DLGAP3	58512	broad.mit.edu	37	1	35370205	35370206	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35370205_35370206CC>AA	uc001byc.2	-	c.779_780GG>TT	c.(778-780)TGG>TTT	p.W260F		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	260					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)												0.04703	-50.306305	37.933161	19	385	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	35370205	35370206	4741	1	CC	AA	AA	AA	234	18	DLGAP3	2	2
CLSPN	63967	broad.mit.edu	37	1	36226707	36226707	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36226707C>A	uc001bzi.2	-	c.994G>T	c.(994-996)GCA>TCA	p.A332S	CLSPN_uc009vux.2_Missense_Mutation_p.A332S	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	332					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			ovary(2)|breast(2)|kidney(1)|lung(1)|central_nervous_system(1)	7		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.049587	-15.245446	10.813595	6	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36226707	36226707	3698	1	C	A	A	A	338	26	CLSPN	2	2
GRIK3	2899	broad.mit.edu	37	1	37291266	37291266	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37291266G>T	uc001caz.2	-	c.1692C>A	c.(1690-1692)GAC>GAA	p.D564E	GRIK3_uc001cba.1_Missense_Mutation_p.D564E	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	564	Helical; (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.03876	-18.725799	10.904445	5	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37291266	37291266	7054	1	G	T	T	T	620	48	GRIK3	2	2
GNL2	29889	broad.mit.edu	37	1	38032463	38032463	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38032463T>A	uc001cbk.2	-	c.2189A>T	c.(2188-2190)AAG>ATG	p.K730M		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	730					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)												0.045802	-33.431623	24.284279	12	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38032463	38032463	6805	1	T	A	A	A	728	56	GNL2	3	3
EPHA10	284656	broad.mit.edu	37	1	38227522	38227522	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38227522G>A	uc009vvi.2	-	c.405C>T	c.(403-405)GCC>GCT	p.A135A	EPHA10_uc001cbw.3_Silent_p.A135A	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	135	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.072289	-4.100434	11.442762	6	77	KEEP	---	---	---	---	capture		Silent	SNP	38227522	38227522	5359	1	G	A	A	A	496	39	EPHA10	1	1
MACF1	23499	broad.mit.edu	37	1	39927704	39927704	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39927704G>A	uc010oiu.1	+	c.17002G>A	c.(17002-17004)GAT>AAT	p.D5668N	MACF1_uc010ois.1_Missense_Mutation_p.D5166N|MACF1_uc001cde.1_Missense_Mutation_p.D43N|MACF1_uc001cdf.1_Missense_Mutation_p.D43N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5166	GAR.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.107438	11.681714	30.186041	13	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39927704	39927704	9521	1	G	A	A	A	429	33	MACF1	2	2
C8A	731	broad.mit.edu	37	1	57372415	57372415	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57372415G>T	uc001cyo.2	+	c.1172G>T	c.(1171-1173)GGT>GTT	p.G391V		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	391	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)	2														0.101449	16.140452	59.8622	28	248	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57372415	57372415	2525	1	G	T	T	T	572	44	C8A	2	2
ROR1	4919	broad.mit.edu	37	1	64515528	64515528	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:64515528C>G	uc001dbj.2	+	c.329C>G	c.(328-330)ACC>AGC	p.T110S	ROR1_uc001dbi.3_Missense_Mutation_p.T110S	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	110	Ig-like C2-type.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|stomach(1)|breast(1)|skin(1)|kidney(1)	13										216				0.03537	-47.240886	25.700107	11	300	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64515528	64515528	14005	1	C	G	G	G	234	18	ROR1	3	3
C1orf173	127254	broad.mit.edu	37	1	75072442	75072442	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75072442C>T	uc001dgg.2	-	c.1332G>A	c.(1330-1332)GAG>GAA	p.E444E	C1orf173_uc001dgi.3_Silent_p.E238E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	444	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.033408	-76.477976	30.135667	15	434	KEEP	---	---	---	---	capture		Silent	SNP	75072442	75072442	2081	1	C	T	T	T	415	32	C1orf173	2	2
CRYZ	1429	broad.mit.edu	37	1	75175924	75175924	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75175924A>T	uc001dgk.2	-	c.488T>A	c.(487-489)TTA>TAA	p.L163*	CRYZ_uc001dgj.2_Nonsense_Mutation_p.L163*|CRYZ_uc001dgl.2_Nonsense_Mutation_p.L163*|CRYZ_uc001dgm.2_Nonsense_Mutation_p.L26*	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	163					oxidation-reduction process|protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)									0.07541	-7.905637	48.47956	23	282	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75175924	75175924	4061	1	A	T	T	T	169	13	CRYZ	5	3
FAM73A	374986	broad.mit.edu	37	1	78309084	78309084	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78309084G>A	uc010ork.1	+	c.988G>A	c.(988-990)GCA>ACA	p.A330T	FAM73A_uc001dhx.2_Missense_Mutation_p.A330T|FAM73A_uc010orl.1_Missense_Mutation_p.A292T|FAM73A_uc001dhy.1_Missense_Mutation_p.A119T	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	330						integral to membrane				ovary(1)	1				Colorectal(170;0.226)										0.074468	-3.553467	13.928801	7	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78309084	78309084	5841	1	G	A	A	A	494	38	FAM73A	1	1
ELTD1	64123	broad.mit.edu	37	1	79383636	79383636	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79383636C>G	uc001diq.3	-	c.1561G>C	c.(1561-1563)GGT>CGT	p.G521R		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	521	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)										0.061538	-18.283727	33.891099	16	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79383636	79383636	5276	1	C	G	G	G	286	22	ELTD1	3	3
LPHN2	23266	broad.mit.edu	37	1	82302730	82302730	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82302730C>A	uc001dit.3	+	c.61C>A	c.(61-63)CCA>ACA	p.P21T	LPHN2_uc001dis.2_Missense_Mutation_p.P21T|LPHN2_uc001diu.2_Missense_Mutation_p.P21T|LPHN2_uc001div.2_Missense_Mutation_p.P21T|LPHN2_uc009wcd.2_Missense_Mutation_p.P21T	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	21					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.05641	-19.399721	20.896121	11	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82302730	82302730	9289	1	C	A	A	A	234	18	LPHN2	2	2
LPHN2	23266	broad.mit.edu	37	1	82409389	82409389	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82409389C>A	uc001dit.3	+	c.1134C>A	c.(1132-1134)TAC>TAA	p.Y378*	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.Y378*|LPHN2_uc001div.2_Nonsense_Mutation_p.Y378*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.Y378*	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	378	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.040486	-33.747443	22.400045	10	237	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82409389	82409389	9289	1	C	A	A	A	246	19	LPHN2	5	1
CLCA4	22802	broad.mit.edu	37	1	87033185	87033185	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87033185G>T	uc009wcs.2	+	c.1033G>T	c.(1033-1035)GGG>TGG	p.G345W	CLCA4_uc009wct.2_Missense_Mutation_p.G108W|CLCA4_uc009wcu.2_Missense_Mutation_p.G165W	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	345	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)										0.114458	15.399707	39.768807	19	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87033185	87033185	3595	1	G	T	T	T	559	43	CLCA4	2	2
CLCA4	22802	broad.mit.edu	37	1	87041101	87041101	+	Silent	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87041101T>A	uc009wcs.2	+	c.1770T>A	c.(1768-1770)TCT>TCA	p.S590S	CLCA4_uc009wct.2_Silent_p.S353S|CLCA4_uc009wcu.2_Silent_p.S410S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	590						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)										0.092664	13.207505	56.452329	24	235	KEEP	---	---	---	---	capture		Silent	SNP	87041101	87041101	3595	1	T	A	A	A	704	55	CLCA4	3	3
PKN2	5586	broad.mit.edu	37	1	89279417	89279417	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89279417G>T	uc001dmn.2	+	c.2279_splice	c.e16+1	p.V760_splice	PKN2_uc010osp.1_Splice_Site_SNP_p.V744_splice|PKN2_uc010osq.1_Splice_Site_SNP_p.V603_splice|PKN2_uc009wcv.2_Splice_Site_SNP_p.V712_splice|PKN2_uc010osr.1_Splice_Site_SNP_p.V425_splice	NM_006256	NP_006247			protein kinase N2						protein phosphorylation|signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)						455				0.057692	-31.761069	53.62246	24	392	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	89279417	89279417	12405	1	G	T	T	T	624	48	PKN2	5	2
ZNF326	284695	broad.mit.edu	37	1	90482956	90482956	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:90482956A>G	uc001dnq.2	+	c.1007A>G	c.(1006-1008)CAT>CGT	p.H336R	ZNF326_uc009wda.1_Missense_Mutation_p.H247R|ZNF326_uc001dnr.2_Missense_Mutation_p.H130R	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	336	C2H2 AKAP95-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)										0.046784	-25.053156	12.517876	8	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90482956	90482956	18438	1	A	G	G	G	104	8	ZNF326	4	4
KIF16B	55614	broad.mit.edu	37	20	16360305	16360305	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:16360305C>A	uc010gci.1	-	c.2342G>T	c.(2341-2343)CGT>CTT	p.R781L	KIF16B_uc002wpe.1_Missense_Mutation_p.R163L|KIF16B_uc002wpf.1_Missense_Mutation_p.R163L|KIF16B_uc002wpg.1_Missense_Mutation_p.R781L|KIF16B_uc010gch.1_Missense_Mutation_p.R781L|KIF16B_uc010gcj.1_Missense_Mutation_p.R792L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	781	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.04244	-51.984613	32.708722	16	361	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16360305	16360305	8589	20	C	A	A	A	247	19	KIF16B	1	1
CRNKL1	51340	broad.mit.edu	37	20	20018210	20018210	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:20018210C>T	uc002wrs.2	-	c.2136G>A	c.(2134-2136)TGG>TGA	p.W712*		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	712	HAT 14.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3														0.042254	-21.140837	10.787066	6	136	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20018210	20018210	4030	20	C	T	T	T	390	30	CRNKL1	5	2
THBD	7056	broad.mit.edu	37	20	23028784	23028784	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23028784C>A	uc002wss.2	-	c.1358G>T	c.(1357-1359)GGG>GTG	p.G453V	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.G394V	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	453	EGF-like 6; calcium-binding (Potential).|Extracellular (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)									0.086957	-0.128807	7.813292	4	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23028784	23028784	16380	20	C	A	A	A	286	22	THBD	2	2
ENTPD6	955	broad.mit.edu	37	20	25193996	25193996	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25193996G>C	uc002wuj.2	+	c.551G>C	c.(550-552)GGC>GCC	p.G184A	ENTPD6_uc010zsy.1_Missense_Mutation_p.G184A|ENTPD6_uc010gdj.1_Missense_Mutation_p.G156A|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.G167A|ENTPD6_uc010zta.1_Missense_Mutation_p.G184A|ENTPD6_uc002wun.2_Missense_Mutation_p.G184A|ENTPD6_uc002wuk.2_Missense_Mutation_p.G183A|ENTPD6_uc002wul.2_Missense_Mutation_p.G183A|ENTPD6_uc010ztb.1_Missense_Mutation_p.G156A|ENTPD6_uc010ztc.1_Missense_Mutation_p.G156A|ENTPD6_uc002wuo.2_5'UTR|ENTPD6_uc010ztd.1_5'UTR	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	184	Lumenal (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0														0.059524	-5.778191	11.262048	5	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25193996	25193996	5336	20	G	C	C	C	546	42	ENTPD6	3	3
HCK	3055	broad.mit.edu	37	20	30671745	30671745	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30671745C>G	uc002wxh.2	+	c.581C>G	c.(580-582)ACC>AGC	p.T194S	HCK_uc010gdy.2_Missense_Mutation_p.T173S|HCK_uc002wxi.2_Missense_Mutation_p.T172S	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	194	SH2.				interspecies interaction between organisms|mesoderm development|protein phosphorylation|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)							262				0.164179	22.804613	29.996514	11	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30671745	30671745	7276	20	C	G	G	G	234	18	HCK	3	3
ITPA	3704	broad.mit.edu	37	20	3194649	3194649	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3194649G>T	uc002wid.2	+	c.208G>T	c.(208-210)GTT>TTT	p.V70F	ITPA_uc002wie.2_Missense_Mutation_p.V53F|ITPA_uc002wif.2_Non-coding_Transcript	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	inosine triphosphatase isoform a	70					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity			ovary(1)	1														0.159292	65.965255	90.95762	36	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3194649	3194649	8219	20	G	T	T	T	572	44	ITPA	2	2
PPP1R16B	26051	broad.mit.edu	37	20	37536785	37536785	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37536785C>A	uc002xje.2	+	c.1143C>A	c.(1141-1143)ACC>ACA	p.T381T	PPP1R16B_uc010ggc.2_Silent_p.T339T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	381					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			kidney(1)	1		Myeloproliferative disorder(115;0.00878)												0.043956	-11.781416	8.486482	4	87	KEEP	---	---	---	---	capture		Silent	SNP	37536785	37536785	12801	20	C	A	A	A	301	24	PPP1R16B	2	2
SFRS6	6431	broad.mit.edu	37	20	42089580	42089580	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42089580G>C	uc010zwg.1	+	c.912G>C	c.(910-912)CCG>CCC	p.P304P	SFRS6_uc002xki.2_Silent_p.P175P|SFRS6_uc002xkk.2_Intron	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	304	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)											0.076271	0.487018	22.185403	9	109	KEEP	---	---	---	---	capture		Silent	SNP	42089580	42089580	14671	20	G	C	C	C	483	38	SFRS6	3	3
ZNFX1	57169	broad.mit.edu	37	20	47865476	47865476	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47865476G>A	uc002xui.2	-	c.4085C>T	c.(4084-4086)CCT>CTT	p.P1362L		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1362							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.192308	32.174821	39.07667	15	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47865476	47865476	18809	20	G	A	A	A	455	35	ZNFX1	2	2
SALL4	57167	broad.mit.edu	37	20	50407593	50407593	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50407593C>G	uc002xwh.3	-	c.1429G>C	c.(1429-1431)GTC>CTC	p.V477L	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	477					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.198529	71.056045	82.552306	27	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50407593	50407593	14293	20	C	G	G	G	221	17	SALL4	3	3
ZNF217	7764	broad.mit.edu	37	20	52193540	52193541	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52193540_52193541CC>AA	uc002xwq.3	-	c.1762_1763GG>TT	c.(1762-1764)GGC>TTC	p.G588F	ZNF217_uc010gij.1_Missense_Mutation_p.G580F	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	588					regulation of transcription, DNA-dependent	histone deacetylase complex	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			skin(2)|large_intestine(1)|lung(1)|ovary(1)	5	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)							185				0.142857	33.515227	50.714689	20	120	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	52193540	52193541	18363	20	CC	AA	AA	AA	338	26	ZNF217	2	2
MC3R	4159	broad.mit.edu	37	20	54824718	54824718	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:54824718C>A	uc002xxb.2	+	c.819C>A	c.(817-819)TAC>TAA	p.Y273*		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	310	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)	2			Colorectal(105;0.202)											0.103659	28.71729	80.014125	34	294	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54824718	54824718	9754	20	C	A	A	A	259	20	MC3R	5	2
BMP7	655	broad.mit.edu	37	20	55746101	55746101	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55746101T>A	uc010gip.1	-	c.1210A>T	c.(1210-1212)ATC>TTC	p.I404F	BMP7_uc010giq.1_Missense_Mutation_p.I338F	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	404					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of gene-specific transcription|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity				0	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)											0.076923	-3.357745	18.049383	9	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55746101	55746101	1490	20	T	A	A	A	663	51	BMP7	3	3
PHACTR3	116154	broad.mit.edu	37	20	58342339	58342339	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58342339C>A	uc002yau.2	+	c.640C>A	c.(640-642)CTG>ATG	p.L214M	PHACTR3_uc002yat.2_Missense_Mutation_p.L211M|PHACTR3_uc010zzw.1_Missense_Mutation_p.L173M|PHACTR3_uc002yav.2_Missense_Mutation_p.L173M|PHACTR3_uc002yaw.2_Missense_Mutation_p.L173M|PHACTR3_uc002yax.2_Intron	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	214						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)											0.087452	1.654949	47.023123	23	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58342339	58342339	12234	20	C	A	A	A	311	24	PHACTR3	2	2
YTHDF1	54915	broad.mit.edu	37	20	61833966	61833966	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61833966C>A	uc002yeh.2	-	c.1326G>T	c.(1324-1326)GGG>GGT	p.G442G	YTHDF1_uc011aaq.1_Silent_p.G392G	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	442	YTH.									ovary(2)	2														0.104478	4.674032	15.10323	7	60	KEEP	---	---	---	---	capture		Silent	SNP	61833966	61833966	18081	20	C	A	A	A	379	30	YTHDF1	2	2
DEFB125	245938	broad.mit.edu	37	20	76964	76964	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:76964A>T	uc002wcw.2	+	c.377A>T	c.(376-378)GAG>GTG	p.E126V		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	126					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)	2		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)											0.050611	-70.585881	52.062984	29	544	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76964	76964	4588	20	A	T	T	T	143	11	DEFB125	3	3
PLCB4	5332	broad.mit.edu	37	20	9434108	9434108	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9434108G>A	uc002wne.2	+	c.2959G>A	c.(2959-2961)GGG>AGG	p.G987R	PLCB4_uc010gbw.1_Missense_Mutation_p.G987R|PLCB4_uc010gbx.2_Missense_Mutation_p.G999R|PLCB4_uc002wnf.2_Missense_Mutation_p.G987R|PLCB4_uc002wnh.2_Missense_Mutation_p.G834R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform a	987					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			ovary(3)|pancreas(1)|skin(1)	5														0.043011	-11.816145	8.950179	4	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9434108	9434108	12456	20	G	A	A	A	559	43	PLCB4	2	2
C20orf103	24141	broad.mit.edu	37	20	9498868	9498868	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9498868C>T	uc002wni.1	+	c.657C>T	c.(655-657)TTC>TTT	p.F219F	C20orf103_uc010zrc.1_Silent_p.F175F	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	chromosome 20 open reading frame 103 precursor	219	Extracellular (Potential).					integral to membrane				lung(1)|breast(1)	2			COAD - Colon adenocarcinoma(9;0.194)											0.177215	26.697078	34.456393	14	65	KEEP	---	---	---	---	capture		Silent	SNP	9498868	9498868	2151	20	C	T	T	T	376	29	C20orf103	2	2
TMPRSS15	5651	broad.mit.edu	37	21	19770595	19770595	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:19770595G>T	uc002ykw.2	-	c.197C>A	c.(196-198)TCC>TAC	p.S66Y		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	66	Extracellular (Potential).|SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|breast(1)	6														0.048913	-23.887891	15.909993	9	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19770595	19770595	16787	21	G	T	T	T	533	41	TMPRSS15	2	2
CYYR1	116159	broad.mit.edu	37	21	27840827	27840827	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27840827C>T	uc002yme.2	-	c.461G>A	c.(460-462)AGG>AAG	p.R154K	CYYR1_uc002ymd.2_Missense_Mutation_p.R153K|CYYR1_uc011ack.1_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	153	Cytoplasmic (Potential).					integral to membrane					0														0.067961	-6.414147	33.374683	14	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27840827	27840827	4376	21	C	T	T	T	312	24	CYYR1	2	2
ETS2	2114	broad.mit.edu	37	21	40194596	40194596	+	Splice_Site_SNP	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:40194596A>C	uc002yxf.2	+	c.1615_splice	c.e11-2	p.V539_splice	ETS2_uc002yxg.2_Splice_Site_SNP_p.V399_splice	NM_005239	NP_005230			v-ets erythroblastosis virus E26 oncogene						positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|pancreas(1)	3		Prostate(19;6.33e-08)|all_epithelial(19;0.123)												0.135802	21.573739	31.976152	11	70	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	40194596	40194596	5469	21	A	C	C	C	39	3	ETS2	5	4
DSCAM	1826	broad.mit.edu	37	21	41427699	41427699	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41427699G>T	uc002yyq.1	-	c.4988C>A	c.(4987-4989)CCC>CAC	p.P1663H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1663	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.030137	-70.341606	18.055232	11	354	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41427699	41427699	4952	21	G	T	T	T	559	43	DSCAM	2	2
DSCAM	1826	broad.mit.edu	37	21	41684064	41684064	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41684064C>A	uc002yyq.1	-	c.2006G>T	c.(2005-2007)TGC>TTC	p.C669F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	669	Extracellular (Potential).|Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.04	-36.125385	15.237375	9	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41684064	41684064	4952	21	C	A	A	A	325	25	DSCAM	2	2
MX2	4600	broad.mit.edu	37	21	42762541	42762541	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42762541T>A	uc002yzf.1	+	c.782T>A	c.(781-783)TTG>TAG	p.L261*	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	261					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)												0.083333	0.119016	44.560445	21	231	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42762541	42762541	10392	21	T	A	A	A	819	63	MX2	5	3
MYO18B	84700	broad.mit.edu	37	22	26239790	26239790	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26239790G>T	uc003abz.1	+	c.3297G>T	c.(3295-3297)ACG>ACT	p.T1099T	MYO18B_uc003aca.1_Silent_p.T980T|MYO18B_uc010guy.1_Silent_p.T981T|MYO18B_uc010guz.1_Silent_p.T980T|MYO18B_uc011aka.1_Silent_p.T253T|MYO18B_uc011akb.1_Silent_p.T612T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1099	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.074074	-4.152241	15.950848	8	100	KEEP	---	---	---	---	capture		Silent	SNP	26239790	26239790	10461	22	G	T	T	T	496	39	MYO18B	1	1
ZNRF3	84133	broad.mit.edu	37	22	29439407	29439407	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:29439407C>T	uc003aeg.2	+	c.322C>T	c.(322-324)CGC>TGC	p.R108C	ZNRF3_uc003aeh.1_Missense_Mutation_p.R108C	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	208	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1														0.051282	-7.995506	8.565114	4	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29439407	29439407	18817	22	C	T	T	T	299	23	ZNRF3	1	1
TRIOBP	11078	broad.mit.edu	37	22	38111855	38111855	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38111855G>T	uc003atr.2	+	c.542G>T	c.(541-543)GGG>GTG	p.G181V	TRIOBP_uc003atu.2_Missense_Mutation_p.G9V|TRIOBP_uc003atq.1_Missense_Mutation_p.G181V|TRIOBP_uc003ats.1_Missense_Mutation_p.G9V	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	181					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)													0.15	10.581626	17.598882	9	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38111855	38111855	17103	22	G	T	T	T	559	43	TRIOBP	2	2
JOSD1	9929	broad.mit.edu	37	22	39085300	39085300	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39085300C>A	uc003awf.2	-	c.314_splice	c.e2+1	p.R105_splice		NM_014876	NP_055691			Josephin domain containing 1								peptidase activity				0	Melanoma(58;0.04)													0.065041	-4.797987	19.368483	8	115	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	39085300	39085300	8262	22	C	A	A	A	234	18	JOSD1	5	2
CACNA1I	8911	broad.mit.edu	37	22	40078528	40078528	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40078528C>A	uc003ayc.2	+	c.5692C>A	c.(5692-5694)CGT>AGT	p.R1898S	CACNA1I_uc003ayd.2_Missense_Mutation_p.R1863S|CACNA1I_uc003aye.2_Missense_Mutation_p.R1813S|CACNA1I_uc003ayf.2_Missense_Mutation_p.R1778S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1898	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)									0.130435	12.425916	21.598763	9	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40078528	40078528	2662	22	C	A	A	A	351	27	CACNA1I	1	1
GRAP2	9402	broad.mit.edu	37	22	40351868	40351868	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40351868C>A	uc003ayh.1	+	c.124C>A	c.(124-126)CAG>AAG	p.Q42K	GRAP2_uc003ayi.2_Non-coding_Transcript|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Missense_Mutation_p.Q42K|GRAP2_uc011aoo.1_Intron|GRAP2_uc011aop.1_Missense_Mutation_p.Q42K|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Missense_Mutation_p.Q42K	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	42	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)	1														0.045455	-26.400661	17.31523	9	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40351868	40351868	7030	22	C	A	A	A	273	21	GRAP2	2	2
PHF21B	112885	broad.mit.edu	37	22	45312231	45312231	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45312231G>A	uc003bfn.2	-	c.493C>T	c.(493-495)CCC>TCC	p.P165S	PHF21B_uc003bfm.2_Missense_Mutation_p.P3S|PHF21B_uc011aqk.1_Missense_Mutation_p.P153S|PHF21B_uc011aql.1_Missense_Mutation_p.P165S|PHF21B_uc011aqm.1_Missense_Mutation_p.P153S	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	165							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)										0.205128	20.578257	23.723211	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45312231	45312231	12257	22	G	A	A	A	559	43	PHF21B	2	2
PKDREJ	10343	broad.mit.edu	37	22	46657468	46657468	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46657468A>G	uc003bhh.2	-	c.1752T>C	c.(1750-1752)TGT>TGC	p.C584C		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	584	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)										0.130435	11.922037	18.028726	6	40	KEEP	---	---	---	---	capture		Silent	SNP	46657468	46657468	12395	22	A	G	G	G	180	14	PKDREJ	4	4
BRD1	23774	broad.mit.edu	37	22	50192205	50192205	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50192205C>A	uc003biu.3	-	c.1785_splice	c.e5+1	p.E595_splice	BRD1_uc011arf.1_Splice_Site_SNP_p.E190_splice|BRD1_uc011arg.1_Intron|BRD1_uc003biv.2_Splice_Site_SNP_p.E595_splice|BRD1_uc011arh.1_Splice_Site_SNP_p.E595_splice	NM_014577	NP_055392			bromodomain containing protein 1						histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)										0.086207	0.036513	10.094721	5	53	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	50192205	50192205	1532	22	C	A	A	A	234	18	BRD1	5	2
SLC5A7	60482	broad.mit.edu	37	2	108609531	108609531	+	Silent	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108609531T>A	uc002tdv.2	+	c.396T>A	c.(394-396)ATT>ATA	p.I132I	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.I132I|SLC5A7_uc010ywn.1_Silent_p.I19I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	132	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.136842	31.329341	55.589015	26	164	KEEP	---	---	---	---	capture		Silent	SNP	108609531	108609531	15167	2	T	A	A	A	796	62	SLC5A7	3	3
SNTG2	54221	broad.mit.edu	37	2	1093880	1093880	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1093880A>T	uc002qwq.2	+	c.211_splice	c.e3-2	p.R71_splice	SNTG2_uc002qwp.2_Splice_Site_SNP|SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841			syntrophin, gamma 2						central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)										0.038278	-34.461317	13.700134	8	201	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	1093880	1093880	15375	2	A	T	T	T	39	3	SNTG2	5	3
CCDC138	165055	broad.mit.edu	37	2	109455699	109455699	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:109455699A>T	uc002ten.1	+	c.1265A>T	c.(1264-1266)CAC>CTC	p.H422L	CCDC138_uc002teo.1_Missense_Mutation_p.H422L|CCDC138_uc002tep.1_Missense_Mutation_p.H106L|CCDC138_uc010fjm.1_Missense_Mutation_p.H106L	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	422											0														0.089888	4.477406	19.541806	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109455699	109455699	2892	2	A	T	T	T	78	6	CCDC138	3	3
ZC3H6	376940	broad.mit.edu	37	2	113088700	113088700	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113088700A>G	uc002thq.1	+	c.2205A>G	c.(2203-2205)ACA>ACG	p.T735T		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	735							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4														0.104167	3.338765	10.823963	5	43	KEEP	---	---	---	---	capture		Silent	SNP	113088700	113088700	18159	2	A	G	G	G	80	7	ZC3H6	4	4
GLI2	2736	broad.mit.edu	37	2	121708950	121708950	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:121708950A>T	uc010flp.2	+	c.386A>T	c.(385-387)TAC>TTC	p.Y129F	GLI2_uc010yyu.1_Missense_Mutation_p.Y129F|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.Y4F|GLI2_uc002tmw.1_Missense_Mutation_p.Y129F	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	129					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.125	3.939912	7.210209	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121708950	121708950	6706	2	A	T	T	T	182	14	GLI2	3	3
CNTNAP5	129684	broad.mit.edu	37	2	125204414	125204414	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125204414T>A	uc010flu.2	+	c.818T>A	c.(817-819)CTC>CAC	p.L273H	CNTNAP5_uc002tno.2_Missense_Mutation_p.L273H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	273	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.053435	-13.183447	14.387915	7	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125204414	125204414	3788	2	T	A	A	A	702	54	CNTNAP5	3	3
CNTNAP5	129684	broad.mit.edu	37	2	125204434	125204434	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125204434C>G	uc010flu.2	+	c.838C>G	c.(838-840)CAG>GAG	p.Q280E	CNTNAP5_uc002tno.2_Missense_Mutation_p.Q280E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	280	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.076923	-0.657731	25.520309	11	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125204434	125204434	3788	2	C	G	G	G	325	25	CNTNAP5	3	3
CNTNAP5	129684	broad.mit.edu	37	2	125521289	125521289	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125521289C>A	uc010flu.2	+	c.2275C>A	c.(2275-2277)CCT>ACT	p.P759T	CNTNAP5_uc002tno.2_Missense_Mutation_p.P758T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	758	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.066667	-6.349509	14.082188	7	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125521289	125521289	3788	2	C	A	A	A	338	26	CNTNAP5	2	2
ARHGEF4	50649	broad.mit.edu	37	2	131704167	131704167	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131704167G>T	uc002tsa.1	+	c.386G>T	c.(385-387)GGA>GTA	p.G129V	ARHGEF4_uc010fmw.1_Missense_Mutation_p.G775V|ARHGEF4_uc002tsb.1_Missense_Mutation_p.G129V|ARHGEF4_uc010fmx.1_Missense_Mutation_p.G129V|ARHGEF4_uc002trz.1_Missense_Mutation_p.G775V	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	129					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)										0.050955	-19.592452	13.823802	8	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131704167	131704167	923	2	G	T	T	T	533	41	ARHGEF4	2	2
TUBA3D	113457	broad.mit.edu	37	2	132237909	132237909	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132237909C>G	uc002tsu.3	+	c.643C>G	c.(643-645)CGC>GGC	p.R215G		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	215					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		Ovarian(137;2059 2432 35543 39401)								0.046784	-22.49894	15.038918	8	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132237909	132237909	17302	2	C	G	G	G	351	27	TUBA3D	3	3
NEB	4703	broad.mit.edu	37	2	152553887	152553887	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152553887T>A	uc010fnx.2	-	c.1342A>T	c.(1342-1344)AAA>TAA	p.K448*	NEB_uc010fny.1_Nonsense_Mutation_p.K2*	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	448	Nebulin 11.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.041775	-58.098623	28.313074	16	367	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152553887	152553887	10701	2	T	A	A	A	806	62	NEB	5	3
TTC21B	79809	broad.mit.edu	37	2	166747407	166747407	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166747407T>A	uc002udk.2	-	c.3042A>T	c.(3040-3042)AAA>AAT	p.K1014N	TTC21B_uc002udj.1_Non-coding_Transcript	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1014						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5														0.075949	-2.289383	12.254639	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166747407	166747407	17242	2	T	A	A	A	777	60	TTC21B	3	3
XIRP2	129446	broad.mit.edu	37	2	168102688	168102688	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168102688C>T	uc002udx.2	+	c.4786C>T	c.(4786-4788)CAG>TAG	p.Q1596*	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.Q1421*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.Q1374*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1421					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.095833	9.334041	48.678844	23	217	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	168102688	168102688	18011	2	C	T	T	T	221	17	XIRP2	5	2
XIRP2	129446	broad.mit.edu	37	2	168106256	168106256	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168106256C>A	uc002udx.2	+	c.8354C>A	c.(8353-8355)CCT>CAT	p.P2785H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2610H|XIRP2_uc010fpq.2_Missense_Mutation_p.P2563H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.P131H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2610					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.035294	-42.553356	17.301058	9	246	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168106256	168106256	18011	2	C	A	A	A	312	24	XIRP2	2	2
XIRP2	129446	broad.mit.edu	37	2	168107271	168107271	+	Silent	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168107271T>C	uc002udx.2	+	c.9369T>C	c.(9367-9369)TTT>TTC	p.F3123F	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.F2948F|XIRP2_uc010fpq.2_Silent_p.F2901F|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2948					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.082822	12.659685	70.466221	27	299	KEEP	---	---	---	---	capture		Silent	SNP	168107271	168107271	18011	2	T	C	C	C	790	61	XIRP2	4	4
XIRP2	129446	broad.mit.edu	37	2	168108080	168108080	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168108080A>G	uc002udx.2	+	c.10178A>G	c.(10177-10179)CAT>CGT	p.H3393R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.H3218R|XIRP2_uc010fpq.2_Missense_Mutation_p.H3171R|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3218					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.035242	-74.175035	32.408943	16	438	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168108080	168108080	18011	2	A	G	G	G	104	8	XIRP2	4	4
G6PC2	57818	broad.mit.edu	37	2	169764517	169764517	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169764517C>A	uc002uem.2	+	c.996C>A	c.(994-996)CCC>CCA	p.P332P	G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Silent_p.P216P	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	islet-specific glucose-6-phosphatase-related	332	Helical; (Potential).				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			pancreas(1)	1														0.054745	-31.386204	25.871956	15	259	KEEP	---	---	---	---	capture		Silent	SNP	169764517	169764517	6395	2	C	A	A	A	275	22	G6PC2	2	2
LRP2	4036	broad.mit.edu	37	2	170063608	170063608	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170063608C>A	uc002ues.2	-	c.6622G>T	c.(6622-6624)GAC>TAC	p.D2208Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2208	LDL-receptor class B 22.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.033493	-74.719481	24.492959	14	404	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170063608	170063608	9329	2	C	A	A	A	377	29	LRP2	2	2
WIPF1	7456	broad.mit.edu	37	2	175440100	175440100	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175440100C>A	uc010fqt.1	-	c.190G>T	c.(190-192)GGA>TGA	p.G64*	WIPF1_uc002uja.2_Nonsense_Mutation_p.G64*|WIPF1_uc002ujc.1_Nonsense_Mutation_p.G64*|WIPF1_uc002uiy.2_Nonsense_Mutation_p.G64*|WIPF1_uc002uiz.2_Nonsense_Mutation_p.G64*|WIPF1_uc002ujb.1_Nonsense_Mutation_p.G64*|WIPF1_uc010zep.1_Nonsense_Mutation_p.G64*	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	64	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)	1														0.107042	35.57033	89.810837	38	317	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175440100	175440100	17941	2	C	A	A	A	312	24	WIPF1	5	2
HOXD10	3236	broad.mit.edu	37	2	176983853	176983853	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176983853C>T	uc002ukj.2	+	c.917C>T	c.(916-918)ACC>ATC	p.T306I		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	306	Homeobox.					nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)						294				0.137931	26.900197	45.294438	20	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176983853	176983853	7611	2	C	T	T	T	234	18	HOXD10	2	2
PDE11A	50940	broad.mit.edu	37	2	178762853	178762853	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178762853G>T	uc002ulq.2	-	c.1234C>A	c.(1234-1236)CAT>AAT	p.H412N	PDE11A_uc002ulr.2_Missense_Mutation_p.H162N|PDE11A_uc002uls.1_Missense_Mutation_p.H54N|PDE11A_uc002ult.1_Missense_Mutation_p.H162N|PDE11A_uc002ulu.1_Missense_Mutation_p.H54N	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	412	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)											0.090226	5.699386	50.777594	24	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178762853	178762853	12052	2	G	T	T	T	598	46	PDE11A	2	2
TTN	7273	broad.mit.edu	37	2	179414361	179414361	+	Silent	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179414361T>A	uc010zfg.1	-	c.84384A>T	c.(84382-84384)GCA>GCT	p.A28128A	TTN_uc010zfh.1_Silent_p.A21823A|TTN_uc010zfi.1_Silent_p.A21756A|TTN_uc010zfj.1_Silent_p.A21631A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										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)							8722				0.164557	54.449479	71.329775	26	132	KEEP	---	---	---	---	capture		Silent	SNP	179414361	179414361	17290	2	T	A	A	A	704	55	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179485619	179485620	+	Missense_Mutation	DNP	AT	TG	TG			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179485619_179485620AT>TG	uc010zfg.1	-	c.38013_38014AT>CA	c.(38011-38016)AAATGG>AACAGG	p.12671_12672KW>NR	TTN_uc010zfh.1_Missense_Mutation_p.6366_6367KW>NR|TTN_uc010zfi.1_Missense_Mutation_p.6299_6300KW>NR|TTN_uc010zfj.1_Missense_Mutation_p.6174_6175KW>NR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3000_3001										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)							8722				0.051282	-12.440163	12.493042	6	111	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	179485619	179485620	17290	2	AT	TG	TG	TG	104	8	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179585261	179585261	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179585261C>G	uc010zfg.1	-	c.19496G>C	c.(19495-19497)AGA>ACA	p.R6499T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3160T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3462										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)							8722				0.043478	-12.282177	8.267776	4	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179585261	179585261	17290	2	C	G	G	G	416	32	TTN	3	3
CCDC141	285025	broad.mit.edu	37	2	179732896	179732896	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179732896C>T	uc002unf.1	-	c.706G>A	c.(706-708)GTA>ATA	p.V236I		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	236							protein binding			ovary(7)|pancreas(2)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.106557	5.423098	24.264775	13	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179732896	179732896	2895	2	C	T	T	T	221	17	CCDC141	2	2
ITGA4	3676	broad.mit.edu	37	2	182388194	182388194	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182388194G>C	uc002unu.2	+	c.2104G>C	c.(2104-2106)GAT>CAT	p.D702H	ITGA4_uc010frj.1_Missense_Mutation_p.D184H|ITGA4_uc002unv.2_5'UTR	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	702	Extracellular (Potential).				B cell differentiation|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)									0.063415	-6.995963	33.673524	13	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182388194	182388194	8182	2	G	C	C	C	429	33	ITGA4	3	3
CALCRL	10203	broad.mit.edu	37	2	188248002	188248002	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:188248002G>T	uc002upv.3	-	c.82C>A	c.(82-84)CCT>ACT	p.P28T	CALCRL_uc010frt.2_Missense_Mutation_p.P28T	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	28	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)											0.077519	-5.162381	18.428397	10	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188248002	188248002	2696	2	G	T	T	T	533	41	CALCRL	2	2
MYT1L	23040	broad.mit.edu	37	2	1891293	1891293	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1891293G>C	uc002qxe.2	-	c.2609C>G	c.(2608-2610)CCT>CGT	p.P870R	MYT1L_uc002qxd.2_Missense_Mutation_p.P868R|MYT1L_uc010ewl.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	870					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.061453	-11.428469	24.506384	11	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1891293	1891293	10502	2	G	C	C	C	455	35	MYT1L	3	3
COL3A1	1281	broad.mit.edu	37	2	189871662	189871662	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189871662G>T	uc002uqj.1	+	c.3202_splice	c.e44-1	p.G1068_splice		NM_000090	NP_000081			collagen type III alpha 1 preproprotein						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)					1079				0.079208	-1.967271	16.286417	8	93	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	189871662	189871662	3826	2	G	T	T	T	455	35	COL3A1	5	2
SLC40A1	30061	broad.mit.edu	37	2	190426728	190426728	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190426728A>T	uc002uqp.3	-	c.1592T>A	c.(1591-1593)GTG>GAG	p.V531E		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	531	Helical; (Potential).				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)											0.107527	9.391624	23.595491	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190426728	190426728	15125	2	A	T	T	T	78	6	SLC40A1	3	3
DNAH7	56171	broad.mit.edu	37	2	196619063	196619063	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196619063T>C	uc002utj.3	-	c.11762A>G	c.(11761-11763)GAT>GGT	p.D3921G	DNAH7_uc002uti.3_Missense_Mutation_p.D404G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3921					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.035484	-51.437174	21.241464	11	299	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196619063	196619063	4789	2	T	C	C	C	650	50	DNAH7	4	4
DNAH7	56171	broad.mit.edu	37	2	196889177	196889177	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196889177T>C	uc002utj.3	-	c.719A>G	c.(718-720)GAT>GGT	p.D240G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	240	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.130435	3.507612	6.567137	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196889177	196889177	4789	2	T	C	C	C	650	50	DNAH7	4	4
DNAH7	56171	broad.mit.edu	37	2	196913108	196913108	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196913108C>A	uc002utj.3	-	c.162G>T	c.(160-162)TGG>TGT	p.W54C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	54	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.091703	6.095982	44.563802	21	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196913108	196913108	4789	2	C	A	A	A	338	26	DNAH7	2	2
RFTN2	130132	broad.mit.edu	37	2	198540116	198540116	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198540116G>T	uc002uuo.3	-	c.67C>A	c.(67-69)CTG>ATG	p.L23M		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	23						plasma membrane					0														0.083333	0.100489	48.839798	23	253	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198540116	198540116	13731	2	G	T	T	T	451	35	RFTN2	2	2
AOX1	316	broad.mit.edu	37	2	201488583	201488583	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201488583G>T	uc002uvx.2	+	c.2002_splice	c.e19-1	p.V668_splice	AOX1_uc010zhf.1_Splice_Site_SNP_p.V224_splice|AOX1_uc010fsu.2_Splice_Site_SNP_p.V34_splice	NM_001159	NP_001150			aldehyde oxidase 1						inflammatory response|oxidation-reduction process|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)	5					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)									0.059028	-24.780097	33.892437	17	271	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	201488583	201488583	739	2	G	T	T	T	455	35	AOX1	5	2
NRP2	8828	broad.mit.edu	37	2	206580979	206580979	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206580979G>T	uc002vaw.2	+	c.314G>T	c.(313-315)TGT>TTT	p.C105F	NRP2_uc002vat.2_Missense_Mutation_p.C105F|NRP2_uc002vau.2_Missense_Mutation_p.C105F|NRP2_uc002vav.2_Missense_Mutation_p.C105F|NRP2_uc002vax.2_Missense_Mutation_p.C105F|NRP2_uc002vay.2_Missense_Mutation_p.C105F|NRP2_uc010fud.2_Missense_Mutation_p.C105F	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	105	Extracellular (Potential).|CUB 1.				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.108247	17.432968	46.960322	21	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206580979	206580979	11066	2	G	T	T	T	624	48	NRP2	2	2
PIKFYVE	200576	broad.mit.edu	37	2	209191039	209191039	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209191039C>T	uc002vcz.2	+	c.3504C>T	c.(3502-3504)GAC>GAT	p.D1168D	PIKFYVE_uc010fun.1_Silent_p.D849D|PIKFYVE_uc002vcy.1_Silent_p.D1112D	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1168					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.071429	-2.748118	10.472009	5	65	KEEP	---	---	---	---	capture		Silent	SNP	209191039	209191039	12348	2	C	T	T	T	233	18	PIKFYVE	2	2
ERBB4	2066	broad.mit.edu	37	2	212295768	212295768	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212295768C>T	uc002veg.1	-	c.2545G>A	c.(2545-2547)GTC>ATC	p.V849I	ERBB4_uc002veh.1_Missense_Mutation_p.V849I|ERBB4_uc010zji.1_Missense_Mutation_p.V839I|ERBB4_uc010zjj.1_Missense_Mutation_p.V839I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	849	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|protein phosphorylation|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(12)|large_intestine(1)|breast(1)	14		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)						777	TSP Lung(8;0.080)			0.052239	-32.583184	24.253733	14	254	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	212295768	212295768	5402	2	C	T	T	T	221	17	ERBB4	2	2
APOB	338	broad.mit.edu	37	2	21263909	21263909	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21263909C>A	uc002red.2	-	c.284G>T	c.(283-285)AGC>ATC	p.S95I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	95	Vitellogenin.|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.138889	7.848777	12.387315	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21263909	21263909	796	2	C	A	A	A	364	28	APOB	2	2
ABCA12	26154	broad.mit.edu	37	2	215847000	215847000	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215847000G>C	uc002vew.2	-	c.4490C>G	c.(4489-4491)TCA>TGA	p.S1497*	ABCA12_uc002vev.2_Nonsense_Mutation_p.S1179*|ABCA12_uc010zjn.1_Nonsense_Mutation_p.S424*	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1497	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		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)		Ovarian(66;664 1488 5121 34295)								0.084	10.769313	54.721102	21	229	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	215847000	215847000	31	2	G	C	C	C	585	45	ABCA12	5	3
RUFY4	285180	broad.mit.edu	37	2	218938551	218938551	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218938551C>A	uc002vgw.2	+	c.24C>A	c.(22-24)TCC>TCA	p.S8S	RUFY4_uc002vgy.1_Non-coding_Transcript|RUFY4_uc010fvl.1_Silent_p.S8S	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	181							zinc ion binding			pancreas(1)	1		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)								OREG0015195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.084746	-0.1696	10.156241	5	54	KEEP	---	---	---	---	capture		Silent	SNP	218938551	218938551	14221	2	C	A	A	A	262	21	RUFY4	2	2
ZNF142	7701	broad.mit.edu	37	2	219508191	219508191	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219508191C>T	uc002vin.2	-	c.3048G>A	c.(3046-3048)CTG>CTA	p.L1016L	ZNF142_uc002vil.2_Silent_p.L977L|ZNF142_uc010fvt.2_Silent_p.L853L|ZNF142_uc002vim.2_Silent_p.L853L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		Colon(170;867 1942 8995 15834 18053)								0.114754	12.954705	30.80985	14	108	KEEP	---	---	---	---	capture		Silent	SNP	219508191	219508191	18322	2	C	T	T	T	366	29	ZNF142	2	2
CUL3	8452	broad.mit.edu	37	2	225362547	225362547	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225362547T>A	uc010fwy.1	-	c.1648A>T	c.(1648-1650)AGT>TGT	p.S550C	CUL3_uc002vny.2_Missense_Mutation_p.S544C|CUL3_uc010zls.1_Missense_Mutation_p.S478C|CUL3_uc002vnz.1_5'UTR	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	544					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			ovary(1)|liver(1)|kidney(1)	3		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)										0.045	-24.493478	19.7639	9	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	225362547	225362547	4216	2	T	A	A	A	715	55	CUL3	3	3
CHRND	1144	broad.mit.edu	37	2	233396169	233396169	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233396169G>A	uc002vsw.2	+	c.928G>A	c.(928-930)GGC>AGC	p.G310S	CHRND_uc010zmg.1_Missense_Mutation_p.G295S|CHRND_uc010fyc.2_Missense_Mutation_p.G183S|CHRND_uc010zmh.1_Missense_Mutation_p.G116S	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	310					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)										0.098039	2.842445	11.086573	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233396169	233396169	3528	2	G	A	A	A	507	39	CHRND	1	1
PASK	23178	broad.mit.edu	37	2	242065756	242065756	+	Silent	SNP	C	A	A	rs56043607		TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242065756C>A	uc010fzl.1	-	c.2574G>T	c.(2572-2574)ACG>ACT	p.T858T	PASK_uc010zol.1_Silent_p.T672T|PASK_uc002wao.1_Silent_p.T858T|PASK_uc010zom.1_Silent_p.T823T|PASK_uc010zon.1_Silent_p.T639T|PASK_uc002wap.2_Silent_p.T401T|PASK_uc002waq.2_Silent_p.T858T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	858					protein phosphorylation|regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)						754				0.105769	18.793606	50.917196	22	186	KEEP	---	---	---	---	capture		Silent	SNP	242065756	242065756	11889	2	C	A	A	A	236	19	PASK	1	1
PFN4	375189	broad.mit.edu	37	2	24342459	24342459	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24342459T>C	uc002rfa.1	-	c.349A>G	c.(349-351)ACA>GCA	p.T117A	LOC375190_uc002rew.2_Intron	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN	profilin family, member 4	117					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.204082	24.227666	28.206301	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24342459	24342459	12192	2	T	C	C	C	767	59	PFN4	4	4
EPT1	85465	broad.mit.edu	37	2	26609319	26609319	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26609319G>T	uc010ykz.1	+	c.1010G>T	c.(1009-1011)GGA>GTA	p.G337V	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN	selenoprotein I	337	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding				0														0.094891	-0.404801	22.18243	13	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26609319	26609319	5392	2	G	T	T	T	533	41	EPT1	2	2
PLB1	151056	broad.mit.edu	37	2	28828767	28828767	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28828767A>G	uc002rmb.1	+	c.3009A>G	c.(3007-3009)CCA>CCG	p.P1003P	PLB1_uc010ezj.1_Silent_p.P992P|PLB1_uc002rme.1_Intron|PLB1_uc002rmf.1_Non-coding_Transcript	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1003	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.189456	278.897916	333.632735	115	492	KEEP	---	---	---	---	capture		Silent	SNP	28828767	28828767	12450	2	A	G	G	G	54	5	PLB1	4	4
EHD3	30845	broad.mit.edu	37	2	31484531	31484531	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31484531G>T	uc002rnu.2	+	c.1032G>T	c.(1030-1032)CGG>CGT	p.R344R	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	344					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.043668	-33.719424	17.368785	10	219	KEEP	---	---	---	---	capture		Silent	SNP	31484531	31484531	5168	2	G	T	T	T	548	43	EHD3	2	2
XDH	7498	broad.mit.edu	37	2	31602819	31602819	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31602819C>G	uc002rnv.1	-	c.1156G>C	c.(1156-1158)GAC>CAC	p.D386H		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	386	FAD-binding PCMH-type.				oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.135135	53.483293	82.064395	30	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31602819	31602819	18007	2	C	G	G	G	390	30	XDH	3	3
RASGRP3	25780	broad.mit.edu	37	2	33740241	33740241	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33740241A>T	uc002rox.2	+	c.38A>T	c.(37-39)GAT>GTT	p.D13V	RASGRP3_uc010ync.1_Missense_Mutation_p.D13V|RASGRP3_uc002roy.2_Missense_Mutation_p.D13V	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	13	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|pancreas(1)	3	all_hematologic(175;0.115)													0.04336	-53.384521	29.086295	16	353	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33740241	33740241	13537	2	A	T	T	T	156	12	RASGRP3	3	3
RASGRP3	25780	broad.mit.edu	37	2	33749025	33749025	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33749025A>G	uc002rox.2	+	c.596A>G	c.(595-597)AAT>AGT	p.N199S	RASGRP3_uc010ync.1_Missense_Mutation_p.N199S|RASGRP3_uc002roy.2_Missense_Mutation_p.N199S	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	199	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|pancreas(1)	3	all_hematologic(175;0.115)													0.054598	-24.641767	48.061129	19	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33749025	33749025	13537	2	A	G	G	G	52	4	RASGRP3	4	4
LRPPRC	10128	broad.mit.edu	37	2	44145421	44145421	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44145421G>T	uc002rtr.2	-	c.3013C>A	c.(3013-3015)CAG>AAG	p.Q1005K	LRPPRC_uc010yob.1_Missense_Mutation_p.Q905K	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	1005					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)	2		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.051095	-14.661706	14.547466	7	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44145421	44145421	9338	2	G	T	T	T	611	47	LRPPRC	2	2
ATP6V1E2	90423	broad.mit.edu	37	2	46739635	46739635	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:46739635C>T	uc002ruy.2	-	c.216G>A	c.(214-216)ATG>ATA	p.M72I	ATP6V1E2_uc002ruz.2_Missense_Mutation_p.M72I	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1	72					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)											0.034965	-51.791772	15.498614	10	276	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46739635	46739635	1203	2	C	T	T	T	221	17	ATP6V1E2	2	2
FBXO11	80204	broad.mit.edu	37	2	48060016	48060016	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48060016T>A	uc010fbl.2	-	c.793A>T	c.(793-795)AAC>TAC	p.N265Y	FBXO11_uc002rwe.2_Missense_Mutation_p.N265Y|FBXO11_uc002rwf.2_Missense_Mutation_p.N265Y|FBXO11_uc002rwg.1_Missense_Mutation_p.N265Y|FBXO11_uc010fbk.2_5'Flank	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	349					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)							2				0.076596	-3.111896	40.010599	18	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48060016	48060016	5964	2	T	A	A	A	793	61	FBXO11	3	3
NRXN1	9378	broad.mit.edu	37	2	50733693	50733693	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50733693G>T	uc010fbq.2	-	c.2557C>A	c.(2557-2559)CGT>AGT	p.R853S	NRXN1_uc002rxb.3_Missense_Mutation_p.R485S|NRXN1_uc002rxe.3_Missense_Mutation_p.R813S|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	181	Extracellular (Potential).|Laminin G-like.				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)											0.05814	-6.129013	11.409461	5	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50733693	50733693	11070	2	G	T	T	T	494	38	NRXN1	1	1
NRXN1	9378	broad.mit.edu	37	2	50765408	50765408	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50765408C>A	uc010fbq.2	-	c.2246G>T	c.(2245-2247)GGC>GTC	p.G749V	NRXN1_uc002rxb.3_Missense_Mutation_p.G381V|NRXN1_uc002rxe.3_Missense_Mutation_p.G709V|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					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)											0.059701	-21.981627	32.345354	16	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50765408	50765408	11070	2	C	A	A	A	338	26	NRXN1	2	2
NRXN1	9378	broad.mit.edu	37	2	50847160	50847160	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50847160C>T	uc010fbq.2	-	c.1440G>A	c.(1438-1440)GAG>GAA	p.E480E	NRXN1_uc002rxb.3_Silent_p.E112E|NRXN1_uc002rxe.3_Silent_p.E440E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					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)											0.128205	6.845987	12.103271	5	34	KEEP	---	---	---	---	capture		Silent	SNP	50847160	50847160	11070	2	C	T	T	T	311	24	NRXN1	2	2
TSPYL6	388951	broad.mit.edu	37	2	54482526	54482526	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54482526C>A	uc002rxr.2	-	c.763G>T	c.(763-765)GCT>TCT	p.A255S	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	255					nucleosome assembly	nucleus					0														0.063291	-10.164292	21.194092	10	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54482526	54482526	17216	2	C	A	A	A	325	25	TSPYL6	2	2
PNPT1	87178	broad.mit.edu	37	2	55920933	55920933	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55920933G>C	uc002rzf.2	-	c.26C>G	c.(25-27)TCG>TGG	p.S9W	PNPT1_uc002rzg.2_Non-coding_Transcript	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	9					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)											0.105263	4.972619	10.856578	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55920933	55920933	12600	2	G	C	C	C	481	37	PNPT1	3	3
VRK2	7444	broad.mit.edu	37	2	58315576	58315576	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:58315576C>A	uc002rzo.2	+	c.445C>A	c.(445-447)CGA>AGA	p.R149R	VRK2_uc010fcb.2_Silent_p.R149R|VRK2_uc002rzs.2_Silent_p.R149R|VRK2_uc002rzr.2_Silent_p.R149R|VRK2_uc010fcc.2_Silent_p.R31R|VRK2_uc002rzv.2_Silent_p.R149R|VRK2_uc010fcd.2_Silent_p.R126R|VRK2_uc002rzp.2_Silent_p.R149R|VRK2_uc010ypg.1_Silent_p.R149R|VRK2_uc002rzq.2_Silent_p.R149R|VRK2_uc002rzu.2_Silent_p.R149R|VRK2_uc002rzt.2_Silent_p.R31R|VRK2_uc010yph.1_Silent_p.R31R	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	149	Protein kinase.				protein phosphorylation	integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1										181				0.058065	-21.923426	41.475224	18	292	KEEP	---	---	---	---	capture		Silent	SNP	58315576	58315576	17787	2	C	A	A	A	295	23	VRK2	1	1
FBXO41	150726	broad.mit.edu	37	2	73492457	73492457	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73492457C>A	uc002sjb.1	-	c.1700G>T	c.(1699-1701)CGC>CTC	p.R567L		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	506	F-box.					intracellular	protein binding|zinc ion binding			pancreas(1)	1														0.138889	2.414285	7.064959	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73492457	73492457	5987	2	C	A	A	A	351	27	FBXO41	1	1
REG3A	5068	broad.mit.edu	37	2	79384813	79384813	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79384813G>T	uc002sod.1	-	c.345C>A	c.(343-345)CCC>CCA	p.P115P	REG3A_uc002soe.1_Silent_p.P115P|REG3A_uc002sof.1_Silent_p.P115P	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	115	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.039548	-29.252171	11.445701	7	170	KEEP	---	---	---	---	capture		Silent	SNP	79384813	79384813	13681	2	G	T	T	T	600	47	REG3A	2	2
MAL	4118	broad.mit.edu	37	2	95715427	95715427	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:95715427C>A	uc002stx.1	+	c.363C>A	c.(361-363)CAC>CAA	p.H121Q	MAL_uc002sty.1_Missense_Mutation_p.H65Q|MAL_uc002stz.1_Intron|MAL_uc002sua.1_Intron	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	121	Extracellular (Potential).|MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0				STAD - Stomach adenocarcinoma(1183;0.18)										0.083871	-2.2421	25.050319	13	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95715427	95715427	9582	2	C	A	A	A	259	20	MAL	2	2
CNGA3	1261	broad.mit.edu	37	2	99012816	99012816	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99012816A>T	uc002syt.2	+	c.1183A>T	c.(1183-1185)ATT>TTT	p.I395F	CNGA3_uc002syu.2_Missense_Mutation_p.I377F|CNGA3_uc010fij.2_Missense_Mutation_p.I399F	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	395	Helical; (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.104348	13.420892	31.322401	12	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99012816	99012816	3736	2	A	T	T	T	104	8	CNGA3	3	3
C2orf55	343990	broad.mit.edu	37	2	99413902	99413902	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99413902C>A	uc002szf.1	-	c.2515G>T	c.(2515-2517)GAC>TAC	p.D839Y		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	839											0														0.113924	9.292791	32.691289	18	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99413902	99413902	2264	2	C	A	A	A	390	30	C2orf55	2	2
ZPLD1	131368	broad.mit.edu	37	3	102175129	102175129	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:102175129A>G	uc003dvt.1	+	c.468A>G	c.(466-468)CCA>CCG	p.P156P	ZPLD1_uc003dvs.1_Silent_p.P140P|ZPLD1_uc011bhg.1_Silent_p.P140P	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	140	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.083039	2.162414	102.162295	47	519	KEEP	---	---	---	---	capture		Silent	SNP	102175129	102175129	18825	3	A	G	G	G	54	5	ZPLD1	4	4
IRAK2	3656	broad.mit.edu	37	3	10283890	10283890	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10283890G>T	uc003bve.1	+	c.1856G>T	c.(1855-1857)AGC>ATC	p.S619I		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	619					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8										288				0.107143	8.035571	20.880328	9	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10283890	10283890	8126	3	G	T	T	T	442	34	IRAK2	2	2
DZIP3	9666	broad.mit.edu	37	3	108409751	108409751	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108409751G>T	uc003dxd.2	+	c.3633_splice	c.e32+1		DZIP3_uc003dxf.1_3'UTR|DZIP3_uc011bhm.1_Splice_Site_SNP	NM_014648	NP_055463			DAZ interacting protein 3, zinc finger						protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.041667	-13.280827	8.393419	4	92	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	108409751	108409751	5051	3	G	T	T	T	572	44	DZIP3	5	2
CD200R1L	344807	broad.mit.edu	37	3	112546420	112546420	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112546420G>T	uc003dzi.1	-	c.224C>A	c.(223-225)CCT>CAT	p.P75H	CD200R1L_uc011bhw.1_Missense_Mutation_p.P54H|CD200R1L_uc010hqf.1_Missense_Mutation_p.P54H	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	75	Ig-like V-type.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1														0.270073	181.516356	194.596253	74	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112546420	112546420	3109	3	G	T	T	T	455	35	CD200R1L	2	2
LSAMP	4045	broad.mit.edu	37	3	115529250	115529250	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:115529250C>T	uc011bis.1	-	c.1000G>A	c.(1000-1002)GTG>ATG	p.V334M	LSAMP_uc003ebt.2_Missense_Mutation_p.V311M	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	311					cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)										0.114286	4.796943	9.911077	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115529250	115529250	9424	3	C	T	T	T	234	18	LSAMP	2	2
MYLK	4638	broad.mit.edu	37	3	123457744	123457744	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123457744C>A	uc003ego.2	-	c.588G>T	c.(586-588)AAG>AAT	p.K196N	MYLK_uc011bjw.1_Missense_Mutation_p.K196N|MYLK_uc003egp.2_Missense_Mutation_p.K196N|MYLK_uc003egq.2_Missense_Mutation_p.K196N|MYLK_uc003egr.2_Missense_Mutation_p.K196N|MYLK_uc003egs.2_Missense_Mutation_p.K20N|MYLK_uc010hrs.1_Missense_Mutation_p.K196N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	196	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)						766				0.266667	17.972133	19.461279	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123457744	123457744	10451	3	C	A	A	A	311	24	MYLK	2	2
CAND2	23066	broad.mit.edu	37	3	12858463	12858463	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12858463G>C	uc003bxk.2	+	c.2032G>C	c.(2032-2034)GCC>CCC	p.A678P	CAND2_uc003bxj.2_Missense_Mutation_p.A585P	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	678	HEAT 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|transcription activator activity			pancreas(1)	1						GBM(43;676 868 1633 6395 37496)								0.184211	14.591782	18.165276	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12858463	12858463	2733	3	G	C	C	C	494	38	CAND2	3	3
COL6A6	131873	broad.mit.edu	37	3	130284196	130284197	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130284196_130284197CC>AA	uc010htl.2	+	c.1020_1021CC>AA	c.(1018-1023)ACCCAC>ACAAAC	p.H341N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	341	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.067251	-20.15049	46.160999	23	319	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	130284196	130284197	3841	3	CC	AA	AA	AA	275	22	COL6A6	2	2
TMEM108	66000	broad.mit.edu	37	3	133099998	133099998	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133099998C>T	uc003eph.2	+	c.1443C>T	c.(1441-1443)TCC>TCT	p.S481S	TMEM108_uc003epi.2_Silent_p.S481S|TMEM108_uc003epj.1_Silent_p.S481S|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Silent_p.S432S	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	481	Helical; (Potential).					integral to membrane				ovary(2)	2														0.190909	46.907365	56.732003	21	89	KEEP	---	---	---	---	capture		Silent	SNP	133099998	133099998	16554	3	C	T	T	T	301	24	TMEM108	2	2
TRPC1	7220	broad.mit.edu	37	3	142503642	142503642	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142503642A>G	uc003evc.2	+	c.1057A>G	c.(1057-1059)ACT>GCT	p.T353A	TRPC1_uc003evb.2_Missense_Mutation_p.T319A	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	353	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.164384	27.858997	35.661127	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142503642	142503642	17129	3	A	G	G	G	130	10	TRPC1	4	4
SLC6A6	6533	broad.mit.edu	37	3	14489271	14489271	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14489271C>A	uc010heg.2	+	c.546C>A	c.(544-546)GTC>GTA	p.V182V	SLC6A6_uc003byp.2_Silent_p.V182V|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.2_Silent_p.V182V|SLC6A6_uc003byr.2_Non-coding_Transcript	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	182	Extracellular (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1														0.060606	-8.633939	11.34448	6	93	KEEP	---	---	---	---	capture		Silent	SNP	14489271	14489271	15185	3	C	A	A	A	405	32	SLC6A6	2	2
FGD5	152273	broad.mit.edu	37	3	14862492	14862492	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14862492C>A	uc003bzc.2	+	c.1914C>A	c.(1912-1914)ATC>ATA	p.I638I	FGD5_uc011avk.1_Silent_p.I638I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	638					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.07767	-0.778928	18.011782	8	95	KEEP	---	---	---	---	capture		Silent	SNP	14862492	14862492	6073	3	C	A	A	A	395	31	FGD5	1	1
MED12L	116931	broad.mit.edu	37	3	151078261	151078261	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151078261G>T	uc003eyp.2	+	c.2721_splice	c.e19-1	p.G907_splice	MED12L_uc011bnz.1_Splice_Site_SNP_p.G767_splice|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Splice_Site_SNP_p.G71_splice	NM_053002	NP_443728			mediator of RNA polymerase II transcription,						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.03719	-116.616079	51.830403	27	699	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	151078261	151078261	9818	3	G	T	T	T	455	35	MED12L	5	2
TIPARP	25976	broad.mit.edu	37	3	156395640	156395640	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:156395640A>T	uc003fav.2	+	c.154A>T	c.(154-156)ACC>TCC	p.T52S	LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Missense_Mutation_p.T52S	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	52							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			Ovarian(171;276 1987 3319 6837 11197)								0.040816	-21.668232	11.686341	6	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156395640	156395640	16453	3	A	T	T	T	26	2	TIPARP	3	3
CCNL1	57018	broad.mit.edu	37	3	156867082	156867082	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:156867082C>T	uc003fbf.2	-	c.1226G>A	c.(1225-1227)AGA>AAA	p.R409K	CCNL1_uc003fbd.1_Missense_Mutation_p.R409K|CCNL1_uc003fbe.2_Missense_Mutation_p.R203K|CCNL1_uc003fbg.2_Non-coding_Transcript|CCNL1_uc011bor.1_Non-coding_Transcript|CCNL1_uc003fbi.1_Missense_Mutation_p.R254K	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	409	RS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)											0.076056	-7.714572	57.638969	27	328	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156867082	156867082	3058	3	C	T	T	T	416	32	CCNL1	2	2
SCHIP1	29970	broad.mit.edu	37	3	158980358	158980358	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:158980358G>A	uc003fcq.1	+	c.177G>A	c.(175-177)GAG>GAA	p.E59E	SCHIP1_uc003fcr.1_5'UTR|IQCJ_uc003fco.2_Silent_p.E59E|IQCJ_uc010hvy.1_Silent_p.E32E|IQCJ_uc003fcp.1_Silent_p.E59E	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	Error:Variant_position_missing_in_Q9P0W5_after_alignment						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)											0.070513	-4.829891	24.790311	11	145	KEEP	---	---	---	---	capture		Silent	SNP	158980358	158980358	14386	3	G	A	A	A	464	36	SCHIP1	2	2
ZBBX	79740	broad.mit.edu	37	3	167051656	167051656	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167051656G>A	uc011bpc.1	-	c.646C>T	c.(646-648)CAT>TAT	p.H216Y	ZBBX_uc003fep.2_Missense_Mutation_p.H216Y|ZBBX_uc003feq.2_Missense_Mutation_p.H187Y	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	216						intracellular	zinc ion binding			ovary(2)	2														0.088608	3.551462	57.633307	28	288	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167051656	167051656	18100	3	G	A	A	A	624	48	ZBBX	2	2
SAMD7	344658	broad.mit.edu	37	3	169654209	169654209	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:169654209T>C	uc003fgd.2	+	c.1124T>C	c.(1123-1125)CTA>CCA	p.L375P	SAMD7_uc003fge.2_Missense_Mutation_p.L375P|SAMD7_uc011bpo.1_Missense_Mutation_p.L276P	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	375	SAM.									skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)											0.13125	88.17141	130.42569	42	278	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169654209	169654209	14304	3	T	C	C	C	689	53	SAMD7	4	4
SLC7A14	57709	broad.mit.edu	37	3	170198380	170198380	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170198380G>T	uc003fgz.2	-	c.1691C>A	c.(1690-1692)ACG>AAG	p.T564K	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	564						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.0625	-4.500385	14.620621	6	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170198380	170198380	15193	3	G	T	T	T	520	40	SLC7A14	1	1
TNIK	23043	broad.mit.edu	37	3	170784088	170784088	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170784088C>G	uc003fhh.2	-	c.3887G>C	c.(3886-3888)GGC>GCC	p.G1296A	TNIK_uc003fhi.2_Missense_Mutation_p.G1241A|TNIK_uc003fhj.2_Missense_Mutation_p.G1267A|TNIK_uc003fhk.2_Missense_Mutation_p.G1288A|TNIK_uc003fhl.2_Missense_Mutation_p.G1212A|TNIK_uc003fhm.2_Missense_Mutation_p.G1233A|TNIK_uc003fhn.2_Missense_Mutation_p.G1259A|TNIK_uc003fho.2_Missense_Mutation_p.G1204A|TNIK_uc003fhg.2_Missense_Mutation_p.G474A	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1296	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)							743				0.116071	20.702548	36.94346	13	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170784088	170784088	16854	3	C	G	G	G	338	26	TNIK	3	3
ATP11B	23200	broad.mit.edu	37	3	182584169	182584169	+	Silent	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182584169A>T	uc003flb.2	+	c.1557A>T	c.(1555-1557)CCA>CCT	p.P519P	ATP11B_uc003flc.2_Silent_p.P103P	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	519	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)											0.144928	39.224988	55.948982	20	118	KEEP	---	---	---	---	capture		Silent	SNP	182584169	182584169	1139	3	A	T	T	T	93	8	ATP11B	3	3
HTR3D	200909	broad.mit.edu	37	3	183756227	183756227	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183756227T>A	uc011bqv.1	+	c.950T>A	c.(949-951)ATG>AAG	p.M317K	HTR3D_uc003fmj.2_Missense_Mutation_p.M142K|HTR3D_uc011bqu.1_Missense_Mutation_p.M267K|HTR3D_uc010hxp.2_Missense_Mutation_p.M96K	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	317	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.096591	22.119791	79.454842	34	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183756227	183756227	7747	3	T	A	A	A	663	51	HTR3D	3	3
HTR3C	170572	broad.mit.edu	37	3	183776234	183776234	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183776234C>A	uc003fmk.2	+	c.579C>A	c.(577-579)GGC>GGA	p.G193G		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	193	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)											0.147727	21.428944	31.824205	13	75	KEEP	---	---	---	---	capture		Silent	SNP	183776234	183776234	7746	3	C	A	A	A	314	25	HTR3C	2	2
CHRD	8646	broad.mit.edu	37	3	184098565	184098565	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184098565G>T	uc003fov.2	+	c.234G>T	c.(232-234)GTG>GTT	p.V78V	THPO_uc003fol.1_5'Flank|THPO_uc003fom.1_5'Flank|CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Silent_p.V78V|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'Flank|CHRD_uc011brr.1_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	78	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.166667	6.018845	7.910886	3	15	KEEP	---	---	---	---	capture		Silent	SNP	184098565	184098565	3506	3	G	T	T	T	587	46	CHRD	2	2
SATB1	6304	broad.mit.edu	37	3	18457508	18457508	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:18457508T>A	uc003cbi.2	-	c.506A>T	c.(505-507)CAG>CTG	p.Q169L	SATB1_uc003cbh.2_Missense_Mutation_p.Q169L|SATB1_uc003cbj.2_Missense_Mutation_p.Q169L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	169	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			ovary(1)|lung(1)|skin(1)	3														0.037855	-49.161957	24.071616	12	305	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18457508	18457508	14334	3	T	A	A	A	715	55	SATB1	3	3
ETV5	2119	broad.mit.edu	37	3	185775021	185775021	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:185775021T>C	uc003fpy.2	-	c.1178A>G	c.(1177-1179)CAG>CGG	p.Q393R	ETV5_uc003fpz.2_Missense_Mutation_p.Q351R	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	351					cellular response to oxidative stress|regulation of transcription, DNA-dependent	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)							170				0.125	27.894993	49.877748	20	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185775021	185775021	5475	3	T	C	C	C	715	55	ETV5	4	4
AHSG	197	broad.mit.edu	37	3	186338572	186338572	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186338572C>T	uc003fql.3	+	c.960C>T	c.(958-960)ACC>ACT	p.T320T	AHSG_uc003fqk.3_Silent_p.T319T|AHSG_uc003fqm.3_Silent_p.T318T|AHSG_uc010hyp.2_Silent_p.T282T	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	319					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)										0.062937	-24.937072	60.474967	27	402	KEEP	---	---	---	---	capture		Silent	SNP	186338572	186338572	423	3	C	T	T	T	301	24	AHSG	2	2
PIGX	54965	broad.mit.edu	37	3	196454905	196454905	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196454905G>A	uc010iaj.2	+	c.307G>A	c.(307-309)GCC>ACC	p.A103T	PIGX_uc003fwx.3_Missense_Mutation_p.A103T|PIGX_uc011btx.1_Non-coding_Transcript	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	144	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)										0.039106	-29.999078	10.946213	7	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196454905	196454905	12327	3	G	A	A	A	442	34	PIGX	2	2
ZNF385D	79750	broad.mit.edu	37	3	21466982	21466982	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:21466982A>T	uc003cce.2	-	c.852_splice	c.e6+1	p.Q284_splice		NM_024697	NP_078973			zinc finger protein 385D							nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(1)	3														0.047847	-25.573325	19.853363	10	199	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	21466982	21466982	18470	3	A	T	T	T	182	14	ZNF385D	5	3
RARB	5915	broad.mit.edu	37	3	25502764	25502764	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25502764C>A	uc011awl.1	+	c.259C>A	c.(259-261)CCC>ACC	p.P87T	RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.P80T	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	87	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|pancreas(1)	2					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)					250				0.096618	3.235121	37.038778	20	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25502764	25502764	13513	3	C	A	A	A	234	18	RARB	2	2
SLC4A7	9497	broad.mit.edu	37	3	27462238	27462238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:27462238G>A	uc011aww.1	-	c.1465C>T	c.(1465-1467)CAG>TAG	p.Q489*	SLC4A7_uc011awu.1_Non-coding_Transcript|SLC4A7_uc011awv.1_Non-coding_Transcript|SLC4A7_uc003cdu.3_Nonsense_Mutation_p.Q361*|SLC4A7_uc011awx.1_Nonsense_Mutation_p.Q476*|SLC4A7_uc011awy.1_Nonsense_Mutation_p.Q472*|SLC4A7_uc011awz.1_Non-coding_Transcript|SLC4A7_uc011axa.1_Nonsense_Mutation_p.Q361*|SLC4A7_uc011axb.1_Nonsense_Mutation_p.Q476*|SLC4A7_uc010hfl.2_Nonsense_Mutation_p.Q30*|SLC4A7_uc003cdv.2_Nonsense_Mutation_p.Q480*|SLC4A7_uc003cdw.2_Nonsense_Mutation_p.Q356*	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	480	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)	4														0.06087	-9.668129	13.49658	7	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27462238	27462238	15155	3	G	A	A	A	624	48	SLC4A7	5	2
IL5RA	3568	broad.mit.edu	37	3	3139691	3139691	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3139691C>T	uc011ask.1	-	c.572G>A	c.(571-573)GGG>GAG	p.G191E	IL5RA_uc010hbq.2_Missense_Mutation_p.G191E|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.G191E|IL5RA_uc011asl.1_Missense_Mutation_p.G191E|IL5RA_uc011asm.1_Missense_Mutation_p.G191E|IL5RA_uc010hbt.2_Missense_Mutation_p.G191E|IL5RA_uc011asn.1_Missense_Mutation_p.G191E|IL5RA_uc010hbu.2_Missense_Mutation_p.G191E	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	191	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GBM(169;430 2801 24955 28528)								0.127551	38.027713	64.459955	25	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3139691	3139691	8001	3	C	T	T	T	286	22	IL5RA	2	2
STAC	6769	broad.mit.edu	37	3	36422208	36422208	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36422208C>T	uc003cgh.1	+	c.73C>T	c.(73-75)CCG>TCG	p.P25S	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.P25S	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	25					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			ovary(1)|pancreas(1)	2														0.222222	7.286482	8.570936	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36422208	36422208	15757	3	C	T	T	T	234	18	STAC	2	2
SCN10A	6336	broad.mit.edu	37	3	38797377	38797377	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38797377C>A	uc003ciq.2	-	c.1363G>T	c.(1363-1365)GCC>TCC	p.A455S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	455					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.030588	-82.092196	20.635767	13	412	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38797377	38797377	14394	3	C	A	A	A	325	25	SCN10A	2	2
USP19	10869	broad.mit.edu	37	3	49153913	49153913	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49153913C>T	uc011bch.1	-	c.1254G>A	c.(1252-1254)GAG>GAA	p.E418E	USP19_uc003cwa.2_Silent_p.E123E|USP19_uc003cvz.3_Silent_p.E418E|USP19_uc011bcg.1_Silent_p.E408E|USP19_uc003cwb.2_Silent_p.E403E|USP19_uc003cwc.1_Silent_p.E73E|USP19_uc003cwd.1_Silent_p.E317E|USP19_uc011bci.1_Silent_p.E403E	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	317	CS 2.|Cytoplasmic (Potential).				proteasomal ubiquitin-dependent protein catabolic process	endoplasmic reticulum membrane|integral to membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(4)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.059259	-9.912823	17.537594	8	127	KEEP	---	---	---	---	capture		Silent	SNP	49153913	49153913	17613	3	C	T	T	T	363	28	USP19	2	2
ARHGEF3	50650	broad.mit.edu	37	3	56789124	56789124	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:56789124C>A	uc003dih.2	-	c.356G>T	c.(355-357)TGG>TTG	p.W119L	ARHGEF3_uc011bew.1_Missense_Mutation_p.W87L|ARHGEF3_uc011bev.1_Missense_Mutation_p.W58L|ARHGEF3_uc003dif.2_Missense_Mutation_p.W93L|ARHGEF3_uc003dig.2_Missense_Mutation_p.W87L|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.W87L	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	87					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)										0.087912	5.120749	51.991334	24	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56789124	56789124	918	3	C	A	A	A	273	21	ARHGEF3	2	2
CADPS	8618	broad.mit.edu	37	3	62385122	62385122	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:62385122T>C	uc003dll.2	-	c.4021A>G	c.(4021-4023)AGC>GGC	p.S1341G	CADPS_uc003dlj.1_Missense_Mutation_p.S296G|CADPS_uc003dlk.1_Missense_Mutation_p.S789G|CADPS_uc003dlm.2_Missense_Mutation_p.S1302G|CADPS_uc003dln.2_Missense_Mutation_p.S1262G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1341	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)										0.047297	-36.187423	28.43002	14	282	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62385122	62385122	2686	3	T	C	C	C	715	55	CADPS	4	4
PDZRN3	23024	broad.mit.edu	37	3	73432950	73432950	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73432950C>A	uc003dpl.1	-	c.2767G>T	c.(2767-2769)GTG>TTG	p.V923L	PDZRN3_uc011bgh.1_Missense_Mutation_p.V580L|PDZRN3_uc010hoe.1_Missense_Mutation_p.V621L|PDZRN3_uc011bgf.1_Missense_Mutation_p.V640L|PDZRN3_uc011bgg.1_Missense_Mutation_p.V643L	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	923							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|pancreas(2)|large_intestine(1)	5		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)										0.205882	12.294142	15.038409	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73432950	73432950	12130	3	C	A	A	A	234	18	PDZRN3	2	2
EPHA3	2042	broad.mit.edu	37	3	89468469	89468469	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89468469T>A	uc003dqy.2	+	c.2003T>A	c.(2002-2004)CTG>CAG	p.L668Q	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	668	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.039773	-26.123714	14.069962	7	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89468469	89468469	5361	3	T	A	A	A	715	55	EPHA3	3	3
SRGAP3	9901	broad.mit.edu	37	3	9079756	9079757	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9079756_9079757CC>AA	uc003brf.1	-	c.1426_1427GG>TT	c.(1426-1428)GGC>TTC	p.G476F	SRGAP3_uc003brg.1_Missense_Mutation_p.G476F|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Missense_Mutation_p.G336F	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	476					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|urinary_tract(1)|breast(1)	6				OV - Ovarian serous cystadenocarcinoma(96;0.0563)										0.088737	8.654649	58.704168	26	267	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	9079756	9079757	15661	3	CC	AA	AA	AA	338	26	SRGAP3	2	2
STX19	415117	broad.mit.edu	37	3	93733408	93733408	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:93733408T>A	uc003drh.1	-	c.706A>T	c.(706-708)ATA>TTA	p.I236L	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	236	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0														0.176471	21.347253	28.077433	12	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93733408	93733408	15862	3	T	A	A	A	650	50	STX19	3	3
DCBLD2	131566	broad.mit.edu	37	3	98600395	98600395	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98600395C>G	uc003dte.2	-	c.422G>C	c.(421-423)AGA>ACA	p.R141T	DCBLD2_uc003dtd.2_Missense_Mutation_p.R141T|DCBLD2_uc003dtf.1_Non-coding_Transcript	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	141	Extracellular (Potential).|CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3														0.068249	0.050972	65.02484	23	314	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98600395	98600395	4452	3	C	G	G	G	416	32	DCBLD2	3	3
ADH6	130	broad.mit.edu	37	4	100131292	100131292	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100131292G>T	uc003huo.2	-	c.514C>A	c.(514-516)CTA>ATA	p.L172I	ADH6_uc011cef.1_Intron|ADH6_uc003hup.3_Missense_Mutation_p.L172I|ADH6_uc010ile.2_Missense_Mutation_p.L172I	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 1	172					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)									0.051136	-20.174745	17.383199	9	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100131292	100131292	313	4	G	T	T	T	451	35	ADH6	2	2
ADH1B	125	broad.mit.edu	37	4	100237162	100237162	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100237162C>A	uc003hus.3	-	c.460G>T	c.(460-462)GAT>TAT	p.D154Y	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.D114Y|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.D114Y	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	154					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)									0.100529	4.519427	34.926016	19	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100237162	100237162	309	4	C	A	A	A	390	30	ADH1B	2	2
BANK1	55024	broad.mit.edu	37	4	102994847	102994847	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:102994847G>T	uc003hvy.3	+	c.2305G>T	c.(2305-2307)GCT>TCT	p.A769S	BANK1_uc003hvx.3_Missense_Mutation_p.A754S|BANK1_uc010ill.2_Missense_Mutation_p.A636S|BANK1_uc003hvz.3_Missense_Mutation_p.A739S	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	769					B cell activation					ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)										0.044199	-25.051948	15.199911	8	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102994847	102994847	1330	4	G	T	T	T	598	46	BANK1	2	2
NHEDC1	150159	broad.mit.edu	37	4	103832641	103832641	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103832641G>T	uc003hww.2	-	c.883C>A	c.(883-885)CTG>ATG	p.L295M	NHEDC1_uc003hwu.2_Missense_Mutation_p.L295M|NHEDC1_uc010ilm.2_Missense_Mutation_p.L62M|NHEDC1_uc003hwv.2_Non-coding_Transcript|NHEDC1_uc011cev.1_Missense_Mutation_p.L68M	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	295	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)										0.091954	3.538398	18.122282	8	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103832641	103832641	10800	4	G	T	T	T	438	34	NHEDC1	2	2
SGMS2	166929	broad.mit.edu	37	4	108824444	108824444	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:108824444G>T	uc003hyl.3	+	c.629G>T	c.(628-630)GGT>GTT	p.G210V	SGMS2_uc003hyn.2_Missense_Mutation_p.G210V|SGMS2_uc003hyo.2_Missense_Mutation_p.G210V	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	210	Helical; (Potential).				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)									0.035813	-62.28046	22.633378	13	350	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108824444	108824444	14706	4	G	T	T	T	572	44	SGMS2	2	2
ANK2	287	broad.mit.edu	37	4	114280094	114280094	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114280094C>T	uc003ibe.3	+	c.10320C>T	c.(10318-10320)TCC>TCT	p.S3440S	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.S742S|ANK2_uc011cgb.1_Silent_p.S3455S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3407					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.036866	-36.479072	13.994131	8	209	KEEP	---	---	---	---	capture		Silent	SNP	114280094	114280094	624	4	C	T	T	T	275	22	ANK2	2	2
SYNPO2	171024	broad.mit.edu	37	4	119951624	119951624	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119951624C>A	uc010inb.2	+	c.1694C>A	c.(1693-1695)CCC>CAC	p.P565H	SYNPO2_uc010ina.2_Missense_Mutation_p.P565H|SYNPO2_uc003icm.3_Missense_Mutation_p.P565H|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P493H	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	565						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.071429	-6.237419	20.24423	10	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119951624	119951624	15978	4	C	A	A	A	286	22	SYNPO2	2	2
KIAA1109	84162	broad.mit.edu	37	4	123159438	123159438	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123159438G>T	uc003ieh.2	+	c.3766G>T	c.(3766-3768)GTT>TTT	p.V1256F	KIAA1109_uc003iei.1_Missense_Mutation_p.V1009F|KIAA1109_uc010ins.1_Missense_Mutation_p.V599F|KIAA1109_uc003iek.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1256					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.045	-28.776349	15.563741	9	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123159438	123159438	8516	4	G	T	T	T	624	48	KIAA1109	2	2
FAT4	79633	broad.mit.edu	37	4	126337718	126337718	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126337718A>G	uc003ifj.3	+	c.6959A>G	c.(6958-6960)CAG>CGG	p.Q2320R	FAT4_uc011cgp.1_Missense_Mutation_p.Q618R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2320	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.056995	-35.36943	44.234502	22	364	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126337718	126337718	5928	4	A	G	G	G	91	7	FAT4	4	4
FAT4	79633	broad.mit.edu	37	4	126373264	126373264	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126373264G>A	uc003ifj.3	+	c.11093G>A	c.(11092-11094)CGA>CAA	p.R3698Q	FAT4_uc011cgp.1_Missense_Mutation_p.R1996Q|FAT4_uc003ifi.1_Missense_Mutation_p.R1176Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3698	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.040462	-25.019638	14.321573	7	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126373264	126373264	5928	4	G	A	A	A	481	37	FAT4	1	1
INTU	27152	broad.mit.edu	37	4	128565197	128565197	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128565197G>T	uc003ifk.1	+	c.668G>T	c.(667-669)GGT>GTT	p.G223V	INTU_uc011cgq.1_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	223	PDZ.									ovary(1)	1														0.084656	5.358831	38.44072	16	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128565197	128565197	8087	4	G	T	T	T	572	44	INTU	2	2
BOD1L	259282	broad.mit.edu	37	4	13602301	13602301	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13602301T>C	uc003gmz.1	-	c.6223A>G	c.(6223-6225)ACC>GCC	p.T2075A	BOD1L_uc010idr.1_Missense_Mutation_p.T1412A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2075							DNA binding			ovary(5)|breast(1)	6														0.084337	2.366305	16.920205	7	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13602301	13602301	1508	4	T	C	C	C	767	59	BOD1L	4	4
NR3C2	4306	broad.mit.edu	37	4	149357133	149357133	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:149357133T>C	uc003ilj.3	-	c.880A>G	c.(880-882)AGA>GGA	p.R294G	NR3C2_uc003ilk.3_Missense_Mutation_p.R294G|NR3C2_uc010iph.2_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	294	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	Melanoma(27;428 957 40335 51025 51111)								0.063158	-4.228385	14.646967	6	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149357133	149357133	11036	4	T	C	C	C	700	54	NR3C2	4	4
FGB	2244	broad.mit.edu	37	4	155490722	155490722	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155490722G>C	uc003ioa.3	+	c.1015G>C	c.(1015-1017)GAA>CAA	p.E339Q	FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.E277Q|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.E120Q	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	339	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)	2	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	NSCLC(106;1133 1613 21870 46110 52656)								0.0625	-10.380747	37.509186	15	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155490722	155490722	6068	4	G	C	C	C	429	33	FGB	3	3
PROM1	8842	broad.mit.edu	37	4	16034984	16034984	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:16034984C>A	uc003goo.2	-	c.452G>T	c.(451-453)GGG>GTG	p.G151V	PROM1_uc003gor.2_Missense_Mutation_p.G151V|PROM1_uc003gos.2_Missense_Mutation_p.G142V|PROM1_uc003got.2_Missense_Mutation_p.G151V|PROM1_uc003gou.2_Missense_Mutation_p.G142V|PROM1_uc003gop.2_Missense_Mutation_p.G142V|PROM1_uc003goq.3_Missense_Mutation_p.G142V|PROM1_uc010iec.1_Missense_Mutation_p.G29V	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	151	Cytoplasmic (Potential).				camera-type eye photoreceptor cell differentiation|response to stimulus|retina layer formation|visual perception	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment|plasma membrane				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7														0.086957	-0.139407	15.727315	8	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16034984	16034984	12998	4	C	A	A	A	286	22	PROM1	2	2
KLHL2	11275	broad.mit.edu	37	4	166160028	166160028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166160028C>T	uc011cjm.1	+	c.370C>T	c.(370-372)CAG>TAG	p.Q124*	KLHL2_uc003irb.2_Nonsense_Mutation_p.Q120*|KLHL2_uc003irc.2_Nonsense_Mutation_p.Q32*	NM_001161521	NP_001154993	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 2	120	BTB.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)										0.04	-34.715598	16.602591	9	216	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	166160028	166160028	8686	4	C	T	T	T	377	29	KLHL2	5	2
ASB5	140458	broad.mit.edu	37	4	177136781	177136781	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177136781C>A	uc003iuq.1	-	c.960G>T	c.(958-960)ACG>ACT	p.T320T	ASB5_uc003iup.1_Silent_p.T267T	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	320	SOCS box.				intracellular signal transduction						0		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)										0.08642	0.2545	14.323768	7	74	KEEP	---	---	---	---	capture		Silent	SNP	177136781	177136781	1044	4	C	A	A	A	236	19	ASB5	1	1
ODZ3	55714	broad.mit.edu	37	4	183245292	183245292	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183245292C>A	uc003ivd.1	+	c.119C>A	c.(118-120)TCC>TAC	p.S40Y	ODZ3_uc010irv.1_Missense_Mutation_p.S40Y	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	40	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.052174	-14.116074	10.155292	6	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183245292	183245292	11241	4	C	A	A	A	390	30	ODZ3	2	2
DCTD	1635	broad.mit.edu	37	4	183815714	183815714	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183815714C>A	uc003ivg.2	-	c.322G>T	c.(322-324)GAT>TAT	p.D108Y	DCTD_uc003ivf.2_Missense_Mutation_p.D97Y|DCTD_uc010irw.2_Missense_Mutation_p.D38Y|DCTD_uc003ivh.2_Missense_Mutation_p.D38Y	NM_001012732	NP_001012750	P32321	DCTD_HUMAN	dCMP deaminase isoform a	97					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)										0.064516	-11.283932	19.286685	10	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183815714	183815714	4476	4	C	A	A	A	403	31	DCTD	1	1
TRIML2	205860	broad.mit.edu	37	4	189026363	189026363	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189026363C>A	uc011cle.1	-	c.160G>T	c.(160-162)GGG>TGG	p.G54W	TRIML2_uc003izl.2_Missense_Mutation_p.G4W|TRIML2_uc011clf.1_Missense_Mutation_p.G54W	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	4							ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)										0.076677	-3.715424	53.691984	24	289	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189026363	189026363	17101	4	C	A	A	A	273	21	TRIML2	2	2
GPR125	166647	broad.mit.edu	37	4	22415263	22415263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22415263G>A	uc003gqm.1	-	c.1984C>T	c.(1984-1986)CGA>TGA	p.R662*	GPR125_uc010ieo.1_Nonsense_Mutation_p.R518*	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	662	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity				0		Breast(46;0.198)												0.096491	3.135532	21.785017	11	103	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22415263	22415263	6913	4	G	A	A	A	519	40	GPR125	5	1
DHX15	1665	broad.mit.edu	37	4	24541735	24541735	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:24541735C>A	uc003gqx.2	-	c.1782G>T	c.(1780-1782)TTG>TTT	p.L594F	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	594					mRNA processing|RNA splicing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)												0.127907	13.532758	25.245585	11	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24541735	24541735	4680	4	C	A	A	A	220	17	DHX15	2	2
GABRA4	2557	broad.mit.edu	37	4	46930701	46930701	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46930701G>T	uc003gxg.2	-	c.1206C>A	c.(1204-1206)AAC>AAA	p.N402K		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	402	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.064516	-7.581671	22.975427	10	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46930701	46930701	6414	4	G	T	T	T	620	48	GABRA4	2	2
ATP10D	57205	broad.mit.edu	37	4	47574221	47574221	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47574221G>T	uc003gxk.1	+	c.3214G>T	c.(3214-3216)GGG>TGG	p.G1072W	ATP10D_uc003gxl.1_Missense_Mutation_p.G320W	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1072	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3														0.062914	-18.866578	41.177956	19	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47574221	47574221	1137	4	G	T	T	T	455	35	ATP10D	2	2
EVC2	132884	broad.mit.edu	37	4	5633700	5633700	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5633700C>A	uc003gij.2	-	c.1530G>T	c.(1528-1530)TTG>TTT	p.L510F	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.L430F	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	510	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5														0.069307	-4.861943	14.50088	7	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5633700	5633700	5479	4	C	A	A	A	376	29	EVC2	2	2
C4orf50	389197	broad.mit.edu	37	4	5961217	5961217	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5961217G>A	uc003git.1	-	c.716C>T	c.(715-717)CCA>CTA	p.P239L		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	239										pancreas(2)|breast(1)	3														0.094937	7.300936	33.336862	15	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5961217	5961217	2373	4	G	A	A	A	611	47	C4orf50	2	2
CXCL6	6372	broad.mit.edu	37	4	74702983	74702983	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74702983C>A	uc003hhf.2	+	c.306C>A	c.(304-306)GTC>GTA	p.V102V	IL8_uc011cbh.1_Intron	NM_002993	NP_002984	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6 (granulocyte	102					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding				0	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)											0.091371	5.798108	38.954349	18	179	KEEP	---	---	---	---	capture		Silent	SNP	74702983	74702983	4248	4	C	A	A	A	366	29	CXCL6	2	2
CNOT6L	246175	broad.mit.edu	37	4	78669518	78669518	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:78669518G>A	uc011ccd.1	-	c.511C>T	c.(511-513)CCG>TCG	p.P171S	CNOT6L_uc003hks.2_Missense_Mutation_p.P171S|CNOT6L_uc003hkt.1_Missense_Mutation_p.P14S|CNOT6L_uc011cce.1_Missense_Mutation_p.P171S	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	171					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1														0.068182	-4.425472	12.556553	6	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78669518	78669518	3761	4	G	A	A	A	533	41	CNOT6L	2	2
FRAS1	80144	broad.mit.edu	37	4	79158662	79158662	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79158662A>G	uc003hlb.2	+	c.109_splice	c.e3-2	p.D37_splice	FRAS1_uc003hkw.2_Splice_Site_SNP_p.D37_splice	NM_025074	NP_079350			Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.061224	-8.92976	10.773021	6	92	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	79158662	79158662	6288	4	A	G	G	G	91	7	FRAS1	5	4
FRAS1	80144	broad.mit.edu	37	4	79204011	79204011	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79204011G>T	uc003hlb.2	+	c.1145G>T	c.(1144-1146)TGT>TTT	p.C382F	FRAS1_uc003hkw.2_Missense_Mutation_p.C382F|FRAS1_uc003hky.1_Missense_Mutation_p.C86F|FRAS1_uc003hkz.2_Missense_Mutation_p.C86F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	382	VWFC 6.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.060976	-9.78218	23.222562	10	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79204011	79204011	6288	4	G	T	T	T	624	48	FRAS1	2	2
ARHGAP24	83478	broad.mit.edu	37	4	86491812	86491812	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:86491812T>G	uc003hpk.2	+	c.118T>G	c.(118-120)TGG>GGG	p.W40G	ARHGAP24_uc003hpi.1_Missense_Mutation_p.W40G|ARHGAP24_uc003hpj.2_Missense_Mutation_p.W40G	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	40	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)										0.039683	-35.369085	22.217045	10	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86491812	86491812	885	4	T	G	G	G	715	55	ARHGAP24	4	4
PTPN13	5783	broad.mit.edu	37	4	87687592	87687592	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87687592C>G	uc003hpy.2	+	c.4266C>G	c.(4264-4266)CGC>CGG	p.R1422R	PTPN13_uc003hpz.2_Silent_p.R1417R|PTPN13_uc003hqa.2_Silent_p.R1398R|PTPN13_uc003hqb.2_Silent_p.R1226R|PTPN13_uc003hqc.1_5'Flank	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1417	PDZ 2.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.103448	7.00592	16.086748	6	52	KEEP	---	---	---	---	capture		Silent	SNP	87687592	87687592	13237	4	C	G	G	G	340	27	PTPN13	3	3
GRID2	2895	broad.mit.edu	37	4	94690481	94690481	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94690481C>A	uc011cdt.1	+	c.2481C>A	c.(2479-2481)GAC>GAA	p.D827E	GRID2_uc011cdu.1_Missense_Mutation_p.D732E	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	827	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.056338	-19.277707	24.797117	12	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94690481	94690481	7050	4	C	A	A	A	220	17	GRID2	2	2
CTNND2	1501	broad.mit.edu	37	5	11384837	11384837	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11384837T>A	uc003jfa.1	-	c.1117A>T	c.(1117-1119)AGC>TGC	p.S373C	CTNND2_uc010itt.2_Missense_Mutation_p.S282C|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	373					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)|pancreas(1)|lung(1)|skin(1)	7														0.117647	5.277155	10.161685	4	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11384837	11384837	4179	5	T	A	A	A	715	55	CTNND2	3	3
CCDC112	153733	broad.mit.edu	37	5	114607061	114607061	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:114607061T>A	uc003kqz.2	-	c.1181A>T	c.(1180-1182)CAG>CTG	p.Q394L	CCDC112_uc003kqy.2_Missense_Mutation_p.Q311L|CCDC112_uc003kra.2_Missense_Mutation_p.Q394L	NM_001040440	NP_001035530	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112 isoform 1	311	Potential.										0		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)										0.059289	-18.485484	32.95467	15	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114607061	114607061	2869	5	T	A	A	A	715	55	CCDC112	3	3
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916758	114916758	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:114916758C>G	uc003kre.2	-	c.703G>C	c.(703-705)GAA>CAA	p.E235Q	TMED7-TICAM2_uc003krd.2_Missense_Mutation_p.E66Q|TICAM2_uc003krc.2_Missense_Mutation_p.E66Q	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	66					I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0														0.058824	-39.190071	113.242265	44	704	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114916758	114916758	16540	5	C	G	G	G	390	30	TMED7-TICAM2	3	3
LMNB1	4001	broad.mit.edu	37	5	126140540	126140540	+	Silent	SNP	G	T	T	rs34224885	byFrequency;by1000genomes	TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126140540G>T	uc003kud.1	+	c.432G>T	c.(430-432)TCG>TCT	p.S144S	LMNB1_uc003kuc.2_Silent_p.S144S|LMNB1_uc010jdb.1_Non-coding_Transcript|LMNB1_uc011cxb.1_5'UTR	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	144	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)						192				0.063636	-6.650497	15.132537	7	103	KEEP	---	---	---	---	capture		Silent	SNP	126140540	126140540	9178	5	G	T	T	T	470	37	LMNB1	1	1
FBN2	2201	broad.mit.edu	37	5	127671773	127671773	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127671773A>C	uc003kuu.2	-	c.3631T>G	c.(3631-3633)TGC>GGC	p.C1211G	FBN2_uc003kuv.2_Missense_Mutation_p.C1178G	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1211	EGF-like 18; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.043478	-24.455128	16.650687	8	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127671773	127671773	5939	5	A	C	C	C	91	7	FBN2	4	4
TERT	7015	broad.mit.edu	37	5	1293449	1293449	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1293449C>A	uc003jcb.1	-	c.1552G>T	c.(1552-1554)GCT>TCT	p.A518S	TERT_uc003jca.1_Missense_Mutation_p.A518S|TERT_uc003jcc.1_Missense_Mutation_p.A518S|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	518	Required for oligomerization.|RNA-interacting domain 2.|QFP motif.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase	cytoplasm|nuclear telomere cap complex|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(6)|central_nervous_system(2)|ovary(1)|skin(1)	10	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)							563				0.24	14.43876	15.981188	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1293449	1293449	16291	5	C	A	A	A	351	27	TERT	1	1
TRPC7	57113	broad.mit.edu	37	5	135602028	135602028	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135602028G>T	uc003lbn.1	-	c.1222C>A	c.(1222-1224)CGA>AGA	p.R408R	TRPC7_uc010jef.1_Silent_p.R345R|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Silent_p.R339R|TRPC7_uc010jei.1_Silent_p.R284R|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	409	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.038889	-27.077818	14.105716	7	173	KEEP	---	---	---	---	capture		Silent	SNP	135602028	135602028	17135	5	G	T	T	T	506	39	TRPC7	1	1
SPOCK1	6695	broad.mit.edu	37	5	136448123	136448123	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:136448123C>A	uc003lbo.2	-	c.474_splice	c.e4+1	p.K158_splice	SPOCK1_uc003lbp.2_Splice_Site_SNP_p.K158_splice	NM_004598	NP_004589			sparc/osteonectin, cwcv and kazal-like domains						cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.102941	12.244589	33.607536	14	122	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	136448123	136448123	15592	5	C	A	A	A	234	18	SPOCK1	5	2
CDC25C	995	broad.mit.edu	37	5	137661711	137661711	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137661711G>A	uc003lcs.1	-	c.602C>T	c.(601-603)CCA>CTA	p.P201L	CDC25C_uc003lcp.1_Missense_Mutation_p.P123L|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.P123L|CDC25C_uc011cyp.1_Missense_Mutation_p.P140L|CDC25C_uc010jet.1_Missense_Mutation_p.P123L|CDC25C_uc003lct.1_Intron|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	123					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)							669				0.085714	0.398544	24.914672	12	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137661711	137661711	3192	5	G	A	A	A	611	47	CDC25C	2	2
CTNNA1	1495	broad.mit.edu	37	5	138160263	138160263	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:138160263A>G	uc003ldh.2	+	c.633A>G	c.(631-633)AGA>AGG	p.R211R	CTNNA1_uc011cyx.1_Silent_p.R108R|CTNNA1_uc011cyy.1_Silent_p.R88R|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Silent_p.R211R	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	211	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.101449	6.277505	17.211318	7	62	KEEP	---	---	---	---	capture		Silent	SNP	138160263	138160263	4171	5	A	G	G	G	141	11	CTNNA1	4	4
PCDHA5	56143	broad.mit.edu	37	5	140203558	140203558	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140203558G>T	uc003lhl.2	+	c.2198G>T	c.(2197-2199)CGG>CTG	p.R733L	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_Missense_Mutation_p.R733L|PCDHA5_uc003lhj.1_Missense_Mutation_p.R733L	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	733	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.157895	7.388362	11.712326	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140203558	140203558	11947	5	G	T	T	T	507	39	PCDHA5	1	1
PCDHA12	56137	broad.mit.edu	37	5	140256781	140256781	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140256781G>T	uc003lic.2	+	c.1724G>T	c.(1723-1725)GGC>GTC	p.G575V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G575V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	575	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Pancreas(113;759 1672 13322 24104 50104)								0.060606	-5.389757	7.772463	4	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140256781	140256781	11942	5	G	T	T	T	546	42	PCDHA12	2	2
PCDHA13	56136	broad.mit.edu	37	5	140263035	140263035	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140263035C>T	uc003lif.2	+	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P394P|PCDHA13_uc003lid.2_Silent_p.P394P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	394	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(147;1739 1852 5500 27947 37288)								0.126016	48.071814	81.641601	31	215	KEEP	---	---	---	---	capture		Silent	SNP	140263035	140263035	11943	5	C	T	T	T	301	24	PCDHA13	2	2
PCDHAC2	56134	broad.mit.edu	37	5	140347030	140347030	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140347030C>T	uc003lii.2	+	c.679C>T	c.(679-681)CTC>TTC	p.L227F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.L227F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	227	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(190;638 2083 3390 11909 52360)								0.079365	-0.47514	10.905357	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140347030	140347030	11953	5	C	T	T	T	416	32	PCDHAC2	2	2
PCDHAC2	56134	broad.mit.edu	37	5	140347941	140347941	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140347941C>T	uc003lii.2	+	c.1590C>T	c.(1588-1590)AGC>AGT	p.S530S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.S530S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	530	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(190;638 2083 3390 11909 52360)								0.090909	3.274875	16.168212	7	70	KEEP	---	---	---	---	capture		Silent	SNP	140347941	140347941	11953	5	C	T	T	T	337	26	PCDHAC2	2	2
PCDHB11	56125	broad.mit.edu	37	5	140580003	140580003	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140580003C>T	uc003liy.2	+	c.656C>T	c.(655-657)TCC>TTC	p.S219F	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	219	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.066116	-6.873417	16.7337	8	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140580003	140580003	11956	5	C	T	T	T	390	30	PCDHB11	2	2
PCDHB11	56125	broad.mit.edu	37	5	140580647	140580647	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140580647G>A	uc003liy.2	+	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K	PCDHB11_uc011daj.1_Missense_Mutation_p.E69K	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	434	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.060606	-12.156273	21.106947	10	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140580647	140580647	11956	5	G	A	A	A	481	37	PCDHB11	1	1
PCDHGA4	56111	broad.mit.edu	37	5	140736531	140736531	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140736531G>T	uc003ljq.1	+	c.1764G>T	c.(1762-1764)GTG>GTT	p.V588V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.V588V	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	588	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.063492	-14.053507	23.434346	12	177	KEEP	---	---	---	---	capture		Silent	SNP	140736531	140736531	11976	5	G	T	T	T	574	45	PCDHGA4	2	2
PCDHGA9	56107	broad.mit.edu	37	5	140783487	140783487	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140783487A>G	uc003lkh.1	+	c.968A>G	c.(967-969)GAT>GGT	p.D323G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.D323G	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	323	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.058442	-9.541363	21.910708	9	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140783487	140783487	11981	5	A	G	G	G	156	12	PCDHGA9	4	4
PCDHGA9	56107	broad.mit.edu	37	5	140784705	140784705	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140784705G>C	uc003lkh.1	+	c.2186G>C	c.(2185-2187)AGT>ACT	p.S729T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S729T	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	729	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.1	4.671159	11.062527	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140784705	140784705	11981	5	G	C	C	C	468	36	PCDHGA9	3	3
PCDHGB6	56100	broad.mit.edu	37	5	140789537	140789537	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140789537A>G	uc003lkj.1	+	c.1768A>G	c.(1768-1770)AAG>GAG	p.K590E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.K590E	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	590	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.2	5.74553	6.581476	2	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140789537	140789537	11987	5	A	G	G	G	169	13	PCDHGB6	4	4
DIAPH1	1729	broad.mit.edu	37	5	140961926	140961926	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140961926T>C	uc003llb.3	-	c.637A>G	c.(637-639)AAC>GAC	p.N213D	DIAPH1_uc003llc.3_Missense_Mutation_p.N204D	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	213	GBD/FH3.				sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.028807	-44.465254	14.878011	7	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140961926	140961926	4697	5	T	C	C	C	806	62	DIAPH1	4	4
TRIO	7204	broad.mit.edu	37	5	14420035	14420035	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14420035G>T	uc003jff.2	+	c.5108G>T	c.(5107-5109)CGC>CTC	p.R1703L	TRIO_uc003jfg.2_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.R1352L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1703	SH3 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.058824	-8.501481	15.688277	7	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14420035	14420035	17102	5	G	T	T	T	494	38	TRIO	1	1
LARS	51520	broad.mit.edu	37	5	145523891	145523892	+	Missense_Mutation	DNP	CC	AA	AA	rs35494851		TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145523891_145523892CC>AA	uc003lnx.1	-	c.1676_1677GG>TT	c.(1675-1677)AGG>ATT	p.R559I	LARS_uc011dbq.1_Missense_Mutation_p.R513I|LARS_uc011dbr.1_Missense_Mutation_p.R505I|LARS_uc011dbs.1_Missense_Mutation_p.R532I	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	559					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)									0.092308	6.702964	39.336885	18	177	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	145523891	145523892	8957	5	CC	AA	AA	AA	389	30	LARS	2	2
RBM27	54439	broad.mit.edu	37	5	145610382	145610382	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145610382A>T	uc003lnz.3	+	c.752A>T	c.(751-753)AAC>ATC	p.N251I	RBM27_uc003lny.2_Missense_Mutation_p.N251I	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	251					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.071066	-9.601018	27.770095	14	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145610382	145610382	13589	5	A	T	T	T	26	2	RBM27	3	3
PPP2R2B	5521	broad.mit.edu	37	5	145969600	145969600	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145969600C>A	uc011dbv.1	-	c.1416G>T	c.(1414-1416)AAG>AAT	p.K472N	PPP2R2B_uc003loe.2_Missense_Mutation_p.K414N|PPP2R2B_uc010jgm.2_Missense_Mutation_p.K403N|PPP2R2B_uc003log.3_Missense_Mutation_p.K414N|PPP2R2B_uc003lof.3_Missense_Mutation_p.K414N|PPP2R2B_uc003loi.3_Missense_Mutation_p.K417N|PPP2R2B_uc003loh.3_Missense_Mutation_p.K414N|PPP2R2B_uc003loj.3_Missense_Mutation_p.K394N|PPP2R2B_uc003lok.3_Missense_Mutation_p.K403N|PPP2R2B_uc011dbu.1_Missense_Mutation_p.K420N	NM_181675	NP_858061	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	414	WD 7.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.058923	-54.809435	66.190043	35	559	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145969600	145969600	12821	5	C	A	A	A	415	32	PPP2R2B	2	2
ARHGEF37	389337	broad.mit.edu	37	5	148999941	148999941	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148999941G>T	uc003lra.1	+	c.919G>T	c.(919-921)GAA>TAA	p.E307*		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	307	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0														0.103261	15.80979	44.64354	19	165	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	148999941	148999941	921	5	G	T	T	T	481	37	ARHGEF37	5	1
CSF1R	1436	broad.mit.edu	37	5	149449436	149449436	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149449436C>A	uc003lrl.2	-	c.1510G>T	c.(1510-1512)GGA>TGA	p.G504*	CSF1R_uc011dcd.1_Nonsense_Mutation_p.G356*|CSF1R_uc010jhc.2_Non-coding_Transcript|CSF1R_uc003lrm.2_Nonsense_Mutation_p.G504*	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	504	Extracellular (Potential).				cell proliferation|multicellular organismal development|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)					592				0.070175	-2.148007	8.722174	4	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	149449436	149449436	4073	5	C	A	A	A	312	24	CSF1R	5	2
GRIA1	2890	broad.mit.edu	37	5	153190693	153190693	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153190693C>G	uc011dcy.1	+	c.2659C>G	c.(2659-2661)CGG>GGG	p.R887G	GRIA1_uc003lva.3_Missense_Mutation_p.R877G|GRIA1_uc003luy.3_Missense_Mutation_p.R877G|GRIA1_uc003luz.3_Missense_Mutation_p.R782G|GRIA1_uc011dcv.1_Non-coding_Transcript|GRIA1_uc011dcw.1_Missense_Mutation_p.R797G|GRIA1_uc011dcx.1_Missense_Mutation_p.R808G|GRIA1_uc011dcz.1_Missense_Mutation_p.R887G	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	877	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(1)	5		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.08	-0.483774	8.475478	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153190693	153190693	7045	5	C	G	G	G	399	31	GRIA1	3	3
HAND1	9421	broad.mit.edu	37	5	153857478	153857478	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153857478G>T	uc003lvn.2	-	c.91C>A	c.(91-93)CCG>ACG	p.P31T		NM_004821	NP_004812	O96004	HAND1_HUMAN	basic helix-loop-helix transcription factor	31					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity|transcription repressor activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)											0.068323	-11.58879	19.382418	11	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153857478	153857478	7231	5	G	T	T	T	533	41	HAND1	2	2
KIF4B	285643	broad.mit.edu	37	5	154396933	154396933	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154396933A>T	uc010jih.1	+	c.3514A>T	c.(3514-3516)ATG>TTG	p.M1172L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1172	Interaction with PRC1 (By similarity).|Globular (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.066667	-4.321764	13.195214	6	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154396933	154396933	8615	5	A	T	T	T	156	12	KIF4B	3	3
ADAM19	8728	broad.mit.edu	37	5	156957829	156957829	+	Silent	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156957829A>G	uc003lwz.2	-	c.393T>C	c.(391-393)ACT>ACC	p.T131T	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.T62T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	131	Cysteine switch (By similarity).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.06	-6.434641	13.910919	6	94	KEEP	---	---	---	---	capture		Silent	SNP	156957829	156957829	241	5	A	G	G	G	28	3	ADAM19	4	4
FBXL7	23194	broad.mit.edu	37	5	15928267	15928267	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928267C>A	uc003jfn.1	+	c.396C>A	c.(394-396)AAC>AAA	p.N132K		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	132	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.217391	11.262606	12.956583	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15928267	15928267	5961	5	C	A	A	A	233	18	FBXL7	2	2
FBXL7	23194	broad.mit.edu	37	5	15937086	15937086	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15937086C>T	uc003jfn.1	+	c.1267C>T	c.(1267-1269)CTG>TTG	p.L423L		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	423	LRR 10.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.253165	51.962814	56.334048	20	59	KEEP	---	---	---	---	capture		Silent	SNP	15937086	15937086	5961	5	C	T	T	T	311	24	FBXL7	2	2
GABRA6	2559	broad.mit.edu	37	5	161119019	161119019	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161119019C>G	uc003lyu.2	+	c.899C>G	c.(898-900)GCC>GGC	p.A300G	GABRA6_uc003lyv.2_Missense_Mutation_p.A71G	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	300					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.044355	-31.039931	24.021481	11	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161119019	161119019	6416	5	C	G	G	G	338	26	GABRA6	3	3
GABRA1	2554	broad.mit.edu	37	5	161281255	161281255	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161281255C>A	uc010jiw.2	+	c.166C>A	c.(166-168)CGC>AGC	p.R56S	GABRA1_uc010jix.2_Missense_Mutation_p.R56S|GABRA1_uc010jiy.2_Missense_Mutation_p.R56S|GABRA1_uc003lyx.3_Missense_Mutation_p.R56S|GABRA1_uc010jiz.2_Missense_Mutation_p.R56S|GABRA1_uc010jja.2_Missense_Mutation_p.R56S|GABRA1_uc010jjb.2_Missense_Mutation_p.R56S	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	56	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)									0.090909	10.510219	43.903383	18	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161281255	161281255	6411	5	C	A	A	A	403	31	GABRA1	1	1
MYO10	4651	broad.mit.edu	37	5	16680173	16680173	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16680173G>A	uc003jft.3	-	c.4425C>T	c.(4423-4425)TAC>TAT	p.Y1475Y	MYO10_uc011cnb.1_Silent_p.Y104Y|MYO10_uc011cnc.1_Silent_p.Y354Y|MYO10_uc011cnd.1_Silent_p.Y832Y|MYO10_uc011cne.1_Silent_p.Y832Y|MYO10_uc010itx.2_Silent_p.Y1097Y	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1475	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.266667	20.086521	21.561958	8	22	KEEP	---	---	---	---	capture		Silent	SNP	16680173	16680173	10457	5	G	A	A	A	568	44	MYO10	2	2
ODZ2	57451	broad.mit.edu	37	5	167517651	167517651	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167517651A>T	uc010jjd.2	+	c.1588A>T	c.(1588-1590)ATA>TTA	p.I530L	ODZ2_uc003lzq.2_Missense_Mutation_p.I409L|ODZ2_uc003lzr.3_Missense_Mutation_p.I298L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.036145	-66.055893	30.777914	15	400	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167517651	167517651	11240	5	A	T	T	T	104	8	ODZ2	3	3
ODZ2	57451	broad.mit.edu	37	5	167645245	167645245	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167645245C>A	uc010jjd.2	+	c.4322C>A	c.(4321-4323)GCG>GAG	p.A1441E	ODZ2_uc003lzr.3_Missense_Mutation_p.A1211E|ODZ2_uc003lzt.3_Missense_Mutation_p.A814E|ODZ2_uc010jje.2_Missense_Mutation_p.A705E	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.036036	-92.616432	36.727263	20	535	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167645245	167645245	11240	5	C	A	A	A	351	27	ODZ2	1	1
ODZ2	57451	broad.mit.edu	37	5	167645451	167645451	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167645451G>C	uc010jjd.2	+	c.4528G>C	c.(4528-4530)GAC>CAC	p.D1510H	ODZ2_uc003lzr.3_Missense_Mutation_p.D1280H|ODZ2_uc003lzt.3_Missense_Mutation_p.D883H|ODZ2_uc010jje.2_Missense_Mutation_p.D774H	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.064133	-23.915212	59.711214	27	394	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167645451	167645451	11240	5	G	C	C	C	533	41	ODZ2	3	3
ODZ2	57451	broad.mit.edu	37	5	167654902	167654902	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167654902C>G	uc010jjd.2	+	c.5260C>G	c.(5260-5262)CAA>GAA	p.Q1754E	ODZ2_uc003lzr.3_Missense_Mutation_p.Q1524E|ODZ2_uc003lzt.3_Missense_Mutation_p.Q1127E|ODZ2_uc010jje.2_Missense_Mutation_p.Q1018E	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.139535	12.420698	17.817296	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167654902	167654902	11240	5	C	G	G	G	377	29	ODZ2	3	3
CCDC99	54908	broad.mit.edu	37	5	169028388	169028388	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169028388G>T	uc003mae.3	+	c.1429G>T	c.(1429-1431)GTT>TTT	p.V477F	CCDC99_uc010jjj.2_Missense_Mutation_p.V406F|CCDC99_uc011deq.1_Missense_Mutation_p.V294F|CCDC99_uc010jjk.2_Missense_Mutation_p.V203F	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	477					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.095745	8.885149	39.553408	18	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169028388	169028388	3001	5	G	T	T	T	468	36	CCDC99	2	2
DOCK2	1794	broad.mit.edu	37	5	169097588	169097588	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169097588G>T	uc003maf.2	+	c.211G>T	c.(211-213)GTT>TTT	p.V71F	DOCK2_uc011der.1_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	71					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.04	-36.75954	20.253713	10	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169097588	169097588	4871	5	G	T	T	T	468	36	DOCK2	2	2
DOCK2	1794	broad.mit.edu	37	5	169101390	169101390	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169101390C>A	uc003maf.2	+	c.411C>A	c.(409-411)CCC>CCA	p.P137P	DOCK2_uc011der.1_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	137					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.154696	46.307291	66.9232	28	153	KEEP	---	---	---	---	capture		Silent	SNP	169101390	169101390	4871	5	C	A	A	A	262	21	DOCK2	2	2
DOCK2	1794	broad.mit.edu	37	5	169506115	169506115	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169506115G>T	uc003maf.2	+	c.5131G>T	c.(5131-5133)GAT>TAT	p.D1711Y	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjm.2_Missense_Mutation_p.D1203Y|DOCK2_uc003mah.2_Missense_Mutation_p.D267Y	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1711					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.148936	9.790938	15.355103	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169506115	169506115	4871	5	G	T	T	T	533	41	DOCK2	2	2
KCNMB1	3779	broad.mit.edu	37	5	169810693	169810693	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169810693T>C	uc003maq.1	-	c.296A>G	c.(295-297)CAG>CGG	p.Q99R	KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Missense_Mutation_p.Q99R	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	99	Extracellular (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)										0.075758	-0.404333	23.916711	10	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169810693	169810693	8379	5	T	C	C	C	715	55	KCNMB1	4	4
KCNIP1	30820	broad.mit.edu	37	5	169931589	169931589	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169931589A>T	uc010jjq.2	+	c.13A>T	c.(13-15)ATG>TTG	p.M5L	KCNIP1_uc003map.2_Intron|KCNIP1_uc003mas.2_Missense_Mutation_p.M5L|KCNIP1_uc003mat.2_Missense_Mutation_p.M5L|KCNIP1_uc010jjp.2_5'UTR	NM_014592	NP_055407	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 2	5					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity				0	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.076923	-1.5953	19.831209	9	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169931589	169931589	8344	5	A	T	T	T	104	8	KCNIP1	3	3
CPLX2	10814	broad.mit.edu	37	5	175306002	175306002	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175306002G>A	uc003mde.1	+	c.123G>A	c.(121-123)CTG>CTA	p.L41L	CPLX2_uc003mdf.1_Silent_p.L41L	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	complexin 2	41	Potential.|Interaction with the SNARE complex (By similarity).				mast cell degranulation|vesicle docking involved in exocytosis	cytosol				ovary(1)	1	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)											0.26087	13.471845	14.642075	6	17	KEEP	---	---	---	---	capture		Silent	SNP	175306002	175306002	3943	5	G	A	A	A	587	46	CPLX2	2	2
FAM153A	285596	broad.mit.edu	37	5	177158587	177158587	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:177158587G>T	uc010jkp.1	-	c.614C>A	c.(613-615)CCA>CAA	p.P205Q	FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_Non-coding_Transcript|FAM153A_uc003mic.2_Missense_Mutation_p.P205Q	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	hypothetical protein LOC285596	205											0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.222222	26.769471	30.605425	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177158587	177158587	5658	5	G	T	T	T	611	47	FAM153A	2	2
ADAMTS2	9509	broad.mit.edu	37	5	178552110	178552110	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178552110C>A	uc003mjw.2	-	c.2822G>T	c.(2821-2823)CGC>CTC	p.R941L		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	941	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.076923	-2.526334	9.378566	5	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178552110	178552110	266	5	C	A	A	A	351	27	ADAMTS2	1	1
MAPK9	5601	broad.mit.edu	37	5	179663483	179663483	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179663483C>A	uc003mls.3	-	c.1176G>T	c.(1174-1176)TCG>TCT	p.S392S	MAPK9_uc003mlt.3_3'UTR|MAPK9_uc010jlc.2_Silent_p.S392S|MAPK9_uc003mlv.3_3'UTR	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	392					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)							167				0.046632	-24.045935	18.213715	9	184	KEEP	---	---	---	---	capture		Silent	SNP	179663483	179663483	9670	5	C	A	A	A	392	31	MAPK9	1	1
CDH12	1010	broad.mit.edu	37	5	21755777	21755777	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21755777A>T	uc010iuc.2	-	c.1808T>A	c.(1807-1809)GTG>GAG	p.V603E	CDH12_uc011cno.1_Missense_Mutation_p.V563E|CDH12_uc003jgk.2_Missense_Mutation_p.V603E	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	603	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.042424	-44.922096	29.23817	14	316	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21755777	21755777	3227	5	A	T	T	T	78	6	CDH12	3	3
IRX2	153572	broad.mit.edu	37	5	2748643	2748643	+	Silent	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:2748643T>A	uc003jda.2	-	c.1179A>T	c.(1177-1179)ACA>ACT	p.T393T	IRX2_uc003jdb.2_Silent_p.T393T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	393					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)										0.272727	44.242766	47.302257	18	48	KEEP	---	---	---	---	capture		Silent	SNP	2748643	2748643	8148	5	T	A	A	A	808	63	IRX2	3	3
TARS	6897	broad.mit.edu	37	5	33455692	33455692	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33455692G>T	uc011coc.1	+	c.639G>T	c.(637-639)GGG>GGT	p.G213G	TARS_uc011cob.1_Silent_p.G180G|TARS_uc010iup.1_Silent_p.G133G|TARS_uc003jhy.2_Silent_p.G192G|TARS_uc003jhz.2_Silent_p.G88G|TARS_uc011cod.1_Silent_p.G71G	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	192					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)									0.262774	86.740685	93.71394	36	101	KEEP	---	---	---	---	capture		Silent	SNP	33455692	33455692	16081	5	G	T	T	T	548	43	TARS	2	2
SLC45A2	51151	broad.mit.edu	37	5	33964047	33964047	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33964047T>C	uc003jid.2	-	c.637A>G	c.(637-639)ACA>GCA	p.T213A	SLC45A2_uc003jie.2_Missense_Mutation_p.T213A|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	213	Extracellular (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)	2						Ovarian(31;380 859 8490 22203 49048)								0.077586	1.52973	22.664495	9	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33964047	33964047	15138	5	T	C	C	C	741	57	SLC45A2	4	4
UGT3A1	133688	broad.mit.edu	37	5	35965803	35965803	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35965803C>A	uc003jjv.1	-	c.528G>T	c.(526-528)GGG>GGT	p.G176G	UGT3A1_uc003jjw.1_Non-coding_Transcript|UGT3A1_uc011coq.1_Silent_p.G176G|UGT3A1_uc011cor.1_Silent_p.G142G|UGT3A1_uc003jjy.1_Silent_p.G122G	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	176	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.226496	117.111805	133.144345	53	181	KEEP	---	---	---	---	capture		Silent	SNP	35965803	35965803	17521	5	C	A	A	A	327	26	UGT3A1	2	2
C9	735	broad.mit.edu	37	5	39341788	39341788	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39341788G>T	uc003jlv.3	-	c.198C>A	c.(196-198)AGC>AGA	p.S66R		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	66	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)											0.116129	21.434023	43.919967	18	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39341788	39341788	2556	5	G	T	T	T	594	46	C9	2	2
DAB2	1601	broad.mit.edu	37	5	39383131	39383131	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39383131C>A	uc003jlx.2	-	c.930G>T	c.(928-930)TCG>TCT	p.S310S	DAB2_uc003jlw.2_Silent_p.S289S	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	310					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)											0.066496	-16.555614	59.640602	26	365	KEEP	---	---	---	---	capture		Silent	SNP	39383131	39383131	4384	5	C	A	A	A	236	19	DAB2	1	1
HCN1	348980	broad.mit.edu	37	5	45262380	45262380	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45262380C>A	uc003jok.2	-	c.2316G>T	c.(2314-2316)CAG>CAT	p.Q772H		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	772	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.046512	-16.962892	11.334977	6	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45262380	45262380	7278	5	C	A	A	A	311	24	HCN1	2	2
ADAMTS16	170690	broad.mit.edu	37	5	5182313	5182313	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5182313C>A	uc003jdl.2	+	c.658C>A	c.(658-660)CTG>ATG	p.L220M	ADAMTS16_uc003jdk.1_Missense_Mutation_p.L220M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.L220M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	220					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.252427	56.799718	62.538274	26	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5182313	5182313	262	5	C	A	A	A	311	24	ADAMTS16	2	2
DEPDC1B	55789	broad.mit.edu	37	5	59943224	59943224	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:59943224C>A	uc003jsh.2	-	c.450_splice	c.e3+1	p.M150_splice	DEPDC1B_uc011cqm.1_Splice_Site_SNP_p.M150_splice|DEPDC1B_uc011cqn.1_Splice_Site_SNP_p.M123_splice	NM_018369	NP_060839			DEP domain containing 1B isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)												0.070423	-1.461623	12.035998	5	66	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	59943224	59943224	4619	5	C	A	A	A	234	18	DEPDC1B	5	2
FLJ37543	285668	broad.mit.edu	37	5	60982794	60982794	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:60982794A>T	uc003jst.1	+	c.122A>T	c.(121-123)GAG>GTG	p.E41V		NM_173667	NP_775938	Q2M2E5	YE017_HUMAN	hypothetical protein LOC285668 precursor	41						extracellular region					0		Lung NSC(810;0.000468)|Prostate(74;0.0283)|Breast(144;0.237)												0.109312	26.849043	64.180973	27	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60982794	60982794	6168	5	A	T	T	T	143	11	FLJ37543	3	3
ZNF366	167465	broad.mit.edu	37	5	71756328	71756328	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71756328G>T	uc003kce.1	-	c.996C>A	c.(994-996)AGC>AGA	p.S332R		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)										0.111111	3.41636	7.443583	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71756328	71756328	18462	5	G	T	T	T	490	38	ZNF366	1	1
MSH3	4437	broad.mit.edu	37	5	80074567	80074567	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80074567C>A	uc003kgz.2	+	c.2347C>A	c.(2347-2349)CCT>ACT	p.P783T		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	783					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			ovary(1)	1		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		Melanoma(88;1010 1399 13793 26548 36275)				1101				0.114679	21.414935	53.340951	25	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80074567	80074567	10264	5	C	A	A	A	390	30	MSH3	2	2
CCNH	902	broad.mit.edu	37	5	86705175	86705175	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:86705175C>A	uc003kjb.2	-	c.246G>T	c.(244-246)ACG>ACT	p.T82T	CCNH_uc003kiy.1_5'Flank|CCNH_uc003kiz.1_Silent_p.T29T|CCNH_uc003kja.2_Silent_p.T29T	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	82					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)										0.193548	14.53415	17.249192	6	25	KEEP	---	---	---	---	capture		Silent	SNP	86705175	86705175	3052	5	C	A	A	A	288	23	CCNH	1	1
GPR98	84059	broad.mit.edu	37	5	90052446	90052446	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:90052446G>C	uc003kju.2	+	c.11756G>C	c.(11755-11757)AGA>ACA	p.R3919T	GPR98_uc003kjt.2_Missense_Mutation_p.R1625T|GPR98_uc003kjv.2_Missense_Mutation_p.R1519T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3919	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)										0.060606	-3.955094	9.359115	4	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90052446	90052446	6997	5	G	C	C	C	429	33	GPR98	3	3
SEMA5A	9037	broad.mit.edu	37	5	9227081	9227081	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9227081T>A	uc003jek.2	-	c.334_splice	c.e7-1	p.E112_splice		NM_003966	NP_003957			semaphorin 5A precursor						cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.207792	77.919497	90.095857	32	122	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	9227081	9227081	14523	5	T	A	A	A	715	55	SEMA5A	5	3
SIM1	6492	broad.mit.edu	37	6	100838705	100838705	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100838705C>A	uc003pqj.3	-	c.1833G>T	c.(1831-1833)CAG>CAT	p.Q611H	SIM1_uc010kcu.2_Missense_Mutation_p.Q611H	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	611	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)										0.096491	1.614006	20.339509	11	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100838705	100838705	14818	6	C	A	A	A	363	28	SIM1	2	2
WASF1	8936	broad.mit.edu	37	6	110422895	110422895	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110422895G>C	uc003ptv.1	-	c.1418C>G	c.(1417-1419)TCT>TGT	p.S473C	WASF1_uc003ptw.1_Missense_Mutation_p.S473C|WASF1_uc003ptx.1_Missense_Mutation_p.S473C|WASF1_uc003pty.1_Missense_Mutation_p.S473C	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	473					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)										0.114894	38.050548	72.399503	27	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110422895	110422895	17824	6	G	C	C	C	429	33	WASF1	3	3
REV3L	5980	broad.mit.edu	37	6	111701261	111701261	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:111701261T>C	uc003puy.3	-	c.1378A>G	c.(1378-1380)AAA>GAA	p.K460E	REV3L_uc003pux.3_Missense_Mutation_p.K382E|REV3L_uc003puz.3_Missense_Mutation_p.K382E	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	460					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(1)|skin(1)	4		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)										0.067847	-5.930986	59.589822	23	316	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111701261	111701261	13710	6	T	C	C	C	832	64	REV3L	4	4
LAMA4	3910	broad.mit.edu	37	6	112471781	112471782	+	Nonsense_Mutation	DNP	AG	TA	TA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112471781_112471782AG>TA	uc003pvu.2	-	c.2104_2105CT>TA	c.(2104-2106)CTA>TAA	p.L702*	LAMA4_uc003pvv.2_Nonsense_Mutation_p.L695*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.L695*	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	702	Domain II and I.|Potential.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.183544	54.150668	68.951697	29	129	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	112471781	112471782	8931	6	AG	TA	TA	TA	195	15	LAMA4	5	3
C6orf204	387119	broad.mit.edu	37	6	118953774	118953774	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:118953774C>A	uc003pxz.1	-	c.74G>T	c.(73-75)GGC>GTC	p.G25V	C6orf204_uc003pya.1_Missense_Mutation_p.G28V|C6orf204_uc003pyb.2_Missense_Mutation_p.G25V|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.G28V|C6orf204_uc011ebl.1_5'UTR	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	25										breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)										0.044444	-18.996797	10.918782	6	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118953774	118953774	2458	6	C	A	A	A	338	26	C6orf204	2	2
CLVS2	134829	broad.mit.edu	37	6	123377050	123377050	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123377050G>T	uc003pzi.1	+	c.775G>T	c.(775-777)GGG>TGG	p.G259W		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	259					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.099494	34.633781	129.974957	59	534	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123377050	123377050	3710	6	G	T	T	T	559	43	CLVS2	2	2
HDDC2	51020	broad.mit.edu	37	6	125597332	125597332	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:125597332C>T	uc003qaa.1	-	c.575G>A	c.(574-576)AGC>AAC	p.S192N	HDDC2_uc003qab.1_Non-coding_Transcript	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	192							catalytic activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)										0.147059	26.535164	38.786904	15	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125597332	125597332	7299	6	C	T	T	T	364	28	HDDC2	2	2
C6orf58	352999	broad.mit.edu	37	6	127898419	127898419	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:127898419C>A	uc003qbh.2	+	c.89C>A	c.(88-90)CCC>CAC	p.P30H		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	30						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)										0.065574	-8.063493	15.807622	8	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127898419	127898419	2473	6	C	A	A	A	286	22	C6orf58	2	2
THEMIS	387357	broad.mit.edu	37	6	128134051	128134051	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128134051C>A	uc011ebt.1	-	c.1735G>T	c.(1735-1737)GTA>TTA	p.V579L	THEMIS_uc010kfa.2_Missense_Mutation_p.V482L|THEMIS_uc003qbi.2_Missense_Mutation_p.V579L|THEMIS_uc010kfb.2_Missense_Mutation_p.V544L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	579					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)	2														0.125348	58.943959	108.149111	45	314	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128134051	128134051	16388	6	C	A	A	A	234	18	THEMIS	2	2
STXBP5	134957	broad.mit.edu	37	6	147684840	147684840	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:147684840G>T	uc003qlz.2	+	c.2915G>T	c.(2914-2916)AGT>ATT	p.S972I	STXBP5_uc010khz.1_Missense_Mutation_p.S936I|STXBP5_uc003qlx.2_Non-coding_Transcript|STXBP5_uc003qly.2_Missense_Mutation_p.S627I	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	972	WD 13.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)										0.181102	49.61416	61.70123	23	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147684840	147684840	15876	6	G	T	T	T	455	35	STXBP5	2	2
SYNE1	23345	broad.mit.edu	37	6	152643000	152643000	+	Silent	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152643000A>C	uc010kiw.2	-	c.15939T>G	c.(15937-15939)ACT>ACG	p.T5313T	SYNE1_uc003qot.3_Silent_p.T5242T|SYNE1_uc003qou.3_Silent_p.T5313T|SYNE1_uc010kiz.2_Silent_p.T1068T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5313	Potential.|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)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.067568	-6.072919	22.586924	10	138	KEEP	---	---	---	---	capture		Silent	SNP	152643000	152643000	15966	6	A	C	C	C	184	15	SYNE1	4	4
TIAM2	26230	broad.mit.edu	37	6	155450580	155450580	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155450580G>C	uc003qqb.2	+	c.223G>C	c.(223-225)GCA>CCA	p.A75P	TIAM2_uc003qqe.2_Missense_Mutation_p.A75P	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	75					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)										0.095238	2.876337	9.775892	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155450580	155450580	16419	6	G	C	C	C	494	38	TIAM2	3	3
TMEM181	57583	broad.mit.edu	37	6	159028350	159028350	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159028350C>T	uc003qrm.3	+	c.1059C>T	c.(1057-1059)CTC>CTT	p.L353L	TMEM181_uc010kjr.1_Silent_p.L184L	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	353	Helical; (Potential).				pathogenesis	integral to membrane	toxin binding			ovary(2)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)										0.232143	26.938228	30.626652	13	43	KEEP	---	---	---	---	capture		Silent	SNP	159028350	159028350	16634	6	C	T	T	T	379	30	TMEM181	2	2
LPA	4018	broad.mit.edu	37	6	161016506	161016506	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161016506T>A	uc003qtl.2	-	c.3349A>T	c.(3349-3351)ATG>TTG	p.M1117L		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3625	Kringle 32.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.082278	4.666328	32.70198	13	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161016506	161016506	9276	6	T	A	A	A	663	51	LPA	3	3
DCDC2	51473	broad.mit.edu	37	6	24357736	24357736	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24357736C>G	uc003ndx.2	-	c.243G>C	c.(241-243)CAG>CAC	p.Q81H	DCDC2_uc003ndy.2_Missense_Mutation_p.Q81H|KAAG1_uc003ndz.1_5'UTR	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	81	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)												0.090909	1.966995	9.38988	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24357736	24357736	4456	6	C	G	G	G	415	32	DCDC2	3	3
HIST1H1D	3007	broad.mit.edu	37	6	26234840	26234840	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26234840G>A	uc003nhd.2	-	c.322C>T	c.(322-324)CTC>TTC	p.L108F		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	108	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)												0.214953	55.799044	63.800948	23	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26234840	26234840	7410	6	G	A	A	A	468	36	HIST1H1D	2	2
NOTCH4	4855	broad.mit.edu	37	6	32169165	32169166	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32169165_32169166CC>AA	uc003obb.2	-	c.3867_3868GG>TT	c.(3865-3870)GGGGAC>GGTTAC	p.D1290Y	NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1290	LNR 3.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.278481	51.674964	55.195104	22	57	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	32169165	32169166	10954	6	CC	AA	AA	AA	390	30	NOTCH4	2	2
LHFPL5	222662	broad.mit.edu	37	6	35773618	35773618	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35773618G>A	uc003olg.1	+	c.171G>A	c.(169-171)CCG>CCA	p.P57P		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	57						integral to membrane					0														0.173611	41.080412	55.582256	25	119	KEEP	---	---	---	---	capture		Silent	SNP	35773618	35773618	9094	6	G	A	A	A	483	38	LHFPL5	1	1
FTSJD2	23070	broad.mit.edu	37	6	37411795	37411795	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:37411795G>T	uc003ons.2	+	c.154G>T	c.(154-156)GGG>TGG	p.G52W	FTSJD2_uc010jwu.2_Missense_Mutation_p.G52W	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	52					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.040323	-38.167783	18.332527	10	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37411795	37411795	6342	6	G	T	T	T	611	47	FTSJD2	2	2
BTBD9	114781	broad.mit.edu	37	6	38548125	38548125	+	Silent	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38548125T>C	uc003ooa.3	-	c.903A>G	c.(901-903)CAA>CAG	p.Q301Q	BTBD9_uc003ony.3_Silent_p.Q233Q|BTBD9_uc010jwv.2_Silent_p.Q233Q|BTBD9_uc010jww.2_Non-coding_Transcript|BTBD9_uc010jwx.2_Silent_p.Q301Q	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	301					cell adhesion						0														0.077491	13.498429	112.411687	42	500	KEEP	---	---	---	---	capture		Silent	SNP	38548125	38548125	1582	6	T	C	C	C	829	64	BTBD9	4	4
DNAH8	1769	broad.mit.edu	37	6	38890849	38890849	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38890849G>C	uc003ooe.1	+	c.10027G>C	c.(10027-10029)GCT>CCT	p.A3343P		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	3343	Stalk (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17									p.A3343T(NCIH596-Tumor)	2979				0.052632	-15.025308	17.02391	8	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38890849	38890849	4790	6	G	C	C	C	494	38	DNAH8	3	3
GLP1R	2740	broad.mit.edu	37	6	39046137	39046137	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39046137A>T	uc003ooj.3	+	c.863A>T	c.(862-864)AAG>ATG	p.K288M	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	288	Helical; Name=4; (Potential).				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(1)|pancreas(1)	2					Exenatide(DB01276)|Glucagon recombinant(DB00040)									0.043137	-34.991173	22.075467	11	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39046137	39046137	6720	6	A	T	T	T	39	3	GLP1R	3	3
KCNK17	89822	broad.mit.edu	37	6	39272314	39272314	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39272314T>G	uc003ooo.2	-	c.470A>C	c.(469-471)CAG>CCG	p.Q157P	KCNK17_uc003oop.2_Missense_Mutation_p.Q157P	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	157	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1														0.046472	-86.635303	41.434595	27	554	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39272314	39272314	8369	6	T	G	G	G	715	55	KCNK17	4	4
PGC	5225	broad.mit.edu	37	6	41712155	41712155	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41712155T>C	uc003ora.1	-	c.308A>G	c.(307-309)TAC>TGC	p.Y103C		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	103					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)											0.136986	50.439878	78.362124	30	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41712155	41712155	12208	6	T	C	C	C	741	57	PGC	4	4
CUL9	23113	broad.mit.edu	37	6	43152140	43152140	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43152140G>A	uc003ouk.2	+	c.92G>A	c.(91-93)GGG>GAG	p.G31E	CUL9_uc003ouj.1_Missense_Mutation_p.G31E|CUL9_uc003oul.2_Missense_Mutation_p.G31E|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	31					regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process	anaphase-promoting complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|central_nervous_system(1)	6														0.163043	25.488579	35.400869	15	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43152140	43152140	4221	6	G	A	A	A	559	43	CUL9	2	2
TTBK1	84630	broad.mit.edu	37	6	43227441	43227441	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43227441G>A	uc003ouq.1	+	c.1421G>A	c.(1420-1422)AGG>AAG	p.R474K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	474					protein phosphorylation	cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)							85				0.368421	19.71636	20.006417	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43227441	43227441	17230	6	G	A	A	A	455	35	TTBK1	2	2
C6orf154	221424	broad.mit.edu	37	6	43477372	43477372	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43477372G>A	uc003ovk.1	-	c.152C>T	c.(151-153)GCC>GTC	p.A51V	C6orf154_uc003ovj.1_5'Flank	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	51											0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)											0.230769	6.617873	7.481951	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43477372	43477372	2443	6	G	A	A	A	546	42	C6orf154	2	2
OPN5	221391	broad.mit.edu	37	6	47763181	47763181	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47763181C>T	uc003ozc.2	+	c.638C>T	c.(637-639)GCT>GTT	p.A213V	OPN5_uc003ozd.2_Missense_Mutation_p.A48V	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	213	Helical; Name=5; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						Melanoma(28;740 973 10870 42660 45347)								0.068736	-22.759511	63.994238	31	420	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47763181	47763181	11289	6	C	T	T	T	364	28	OPN5	2	2
RHAG	6005	broad.mit.edu	37	6	49604438	49604438	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49604438G>A	uc003ozk.3	-	c.88C>T	c.(88-90)CAG>TAG	p.Q30*	RHAG_uc010jzl.2_Nonsense_Mutation_p.Q30*|RHAG_uc010jzm.2_Nonsense_Mutation_p.Q30*	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	30	Extracellular (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)	1	Lung NSC(77;0.0255)					Ovarian(176;476 2003 7720 43408 44749)								0.152778	79.743714	112.953214	44	244	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49604438	49604438	13790	6	G	A	A	A	611	47	RHAG	5	2
DEFB112	245915	broad.mit.edu	37	6	50011298	50011298	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50011298G>T	uc011dws.1	-	c.332C>A	c.(331-333)TCA>TAA	p.S111*		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	111					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)													0.1	2.96566	14.167245	7	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50011298	50011298	4578	6	G	T	T	T	585	45	DEFB112	5	2
TFAP2B	7021	broad.mit.edu	37	6	50803948	50803948	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50803948C>G	uc003pag.2	+	c.776C>G	c.(775-777)CCC>CGC	p.P259R		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	259					nervous system development|positive regulation of transcription from RNA polymerase II promoter, global	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					Pancreas(116;1373 2332 5475 10752)								0.25	72.508499	79.112032	29	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50803948	50803948	16316	6	C	G	G	G	286	22	TFAP2B	3	3
PKHD1	5314	broad.mit.edu	37	6	51656119	51656119	+	Silent	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51656119C>G	uc003pah.1	-	c.8355G>C	c.(8353-8355)GTG>GTC	p.V2785V	PKHD1_uc010jzn.1_Silent_p.V768V|PKHD1_uc003pai.2_Silent_p.V2785V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2785	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			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.151659	69.264538	93.776984	32	179	KEEP	---	---	---	---	capture		Silent	SNP	51656119	51656119	12396	6	C	G	G	G	366	29	PKHD1	3	3
PKHD1	5314	broad.mit.edu	37	6	51774197	51774197	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51774197A>G	uc003pah.1	-	c.6566T>C	c.(6565-6567)GTT>GCT	p.V2189A	PKHD1_uc010jzn.1_Missense_Mutation_p.V214A|PKHD1_uc003pai.2_Missense_Mutation_p.V2189A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2189	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			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.041237	-106.484657	69.135177	32	744	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51774197	51774197	12396	6	A	G	G	G	26	2	PKHD1	4	4
PKHD1	5314	broad.mit.edu	37	6	51890489	51890489	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51890489C>A	uc003pah.1	-	c.4119G>T	c.(4117-4119)ATG>ATT	p.M1373I	PKHD1_uc003pai.2_Missense_Mutation_p.M1373I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1373	IPT/TIG 8; atypical.|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			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.071429	-3.691149	17.507923	8	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51890489	51890489	12396	6	C	A	A	A	273	21	PKHD1	2	2
TINAG	27283	broad.mit.edu	37	6	54208149	54208149	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54208149T>A	uc003pcj.2	+	c.748_splice	c.e5+2	p.S250_splice	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279			tubulointerstitial nephritis antigen						cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)											0.149606	33.680978	48.601035	19	108	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54208149	54208149	16450	6	T	A	A	A	741	57	TINAG	5	3
FAM83B	222584	broad.mit.edu	37	6	54735414	54735414	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54735414C>G	uc003pck.2	+	c.370C>G	c.(370-372)CTT>GTT	p.L124V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	124										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.044444	-16.866884	13.109175	6	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54735414	54735414	5860	6	C	G	G	G	312	24	FAM83B	3	3
FAM83B	222584	broad.mit.edu	37	6	54805191	54805191	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54805191C>A	uc003pck.2	+	c.1422C>A	c.(1420-1422)ATC>ATA	p.I474I		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	474										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.085185	0.527257	47.64936	23	247	KEEP	---	---	---	---	capture		Silent	SNP	54805191	54805191	5860	6	C	A	A	A	382	30	FAM83B	2	2
EXOC2	55770	broad.mit.edu	37	6	576816	576816	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:576816T>C	uc003mtd.2	-	c.1259A>G	c.(1258-1260)CAT>CGT	p.H420R	EXOC2_uc003mte.2_Missense_Mutation_p.H420R|EXOC2_uc011dho.1_Missense_Mutation_p.H15R	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	420					exocytosis|protein transport					ovary(2)|breast(2)|pancreas(1)	5	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)										0.051724	-11.725816	12.916533	6	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	576816	576816	5495	6	T	C	C	C	663	51	EXOC2	4	4
RIMS1	22999	broad.mit.edu	37	6	72947526	72947526	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:72947526G>T	uc003pga.2	+	c.1858G>T	c.(1858-1860)GTT>TTT	p.V620F	RIMS1_uc011dyb.1_Missense_Mutation_p.V246F|RIMS1_uc003pgc.2_Missense_Mutation_p.V246F|RIMS1_uc010kaq.2_Missense_Mutation_p.V94F|RIMS1_uc011dyc.1_Missense_Mutation_p.V94F|RIMS1_uc010kar.2_Missense_Mutation_p.V13F|RIMS1_uc011dyd.1_Missense_Mutation_p.V79F|RIMS1_uc003pgb.3_Missense_Mutation_p.V246F|RIMS1_uc010kas.1_Missense_Mutation_p.V79F	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	620	PDZ.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.082353	-0.639332	14.446213	7	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72947526	72947526	13844	6	G	T	T	T	572	44	RIMS1	2	2
EEF1E1	9521	broad.mit.edu	37	6	8080125	8080125	+	Nonstop_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:8080125A>G	uc003mxz.2	-	c.523T>C	c.(523-525)TAG>CAG	p.*175Q	EEF1E1_uc011dic.1_Intron	NM_004280	NP_004271	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1	175					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus					0	Ovarian(93;0.0398)													0.035503	-25.551664	14.012116	6	163	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	8080125	8080125	5114	6	A	G	G	G	195	15	EEF1E1	5	4
SNAP91	9892	broad.mit.edu	37	6	84311032	84311032	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84311032T>A	uc011dze.1	-	c.1282A>T	c.(1282-1284)ACA>TCA	p.T428S	SNAP91_uc011dzd.1_5'UTR|SNAP91_uc003pkb.2_Missense_Mutation_p.T391S|SNAP91_uc003pkc.2_Missense_Mutation_p.T426S|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.T426S	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	428	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)										0.08	-1.036406	7.962844	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84311032	84311032	15333	6	T	A	A	A	741	57	SNAP91	3	3
BACH2	60468	broad.mit.edu	37	6	90661568	90661568	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90661568C>T	uc011eab.1	-	c.257G>A	c.(256-258)GGC>GAC	p.G86D	BACH2_uc003pnw.2_Missense_Mutation_p.G86D|BACH2_uc010kch.2_Missense_Mutation_p.G86D	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	86	BTB.				regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|lung(1)|pancreas(1)	5		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)										0.073171	-3.51546	11.757948	6	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90661568	90661568	1305	6	C	T	T	T	338	26	BACH2	2	2
EPHA7	2045	broad.mit.edu	37	6	94066637	94066637	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:94066637C>T	uc003poe.2	-	c.1122G>A	c.(1120-1122)TGG>TGA	p.W374*	EPHA7_uc003pof.2_Nonsense_Mutation_p.W374*|EPHA7_uc011eac.1_Nonsense_Mutation_p.W374*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	374	Extracellular (Potential).|Fibronectin type-III 1.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)						635				0.066667	-4.188843	10.425947	5	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	94066637	94066637	5365	6	C	T	T	T	286	22	EPHA7	5	2
MOSPD3	64598	broad.mit.edu	37	7	100212502	100212502	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100212502A>C	uc003uvq.2	+	c.524A>C	c.(523-525)CAA>CCA	p.Q175P	MOSPD3_uc003uvr.2_Missense_Mutation_p.Q175P|MOSPD3_uc003uvs.2_Missense_Mutation_p.Q175P|MOSPD3_uc003uvt.2_Missense_Mutation_p.Q165P	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN	motile sperm domain containing 3 isoform a	175						integral to membrane	structural molecule activity			ovary(2)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)													0.074074	-1.817458	23.311796	10	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100212502	100212502	10109	7	A	C	C	C	65	5	MOSPD3	4	4
ACHE	43	broad.mit.edu	37	7	100491327	100491327	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100491327A>T	uc003uxe.2	-	c.527T>A	c.(526-528)GTG>GAG	p.V176E	ACHE_uc003uxd.2_Missense_Mutation_p.V176E|ACHE_uc003uxf.2_Missense_Mutation_p.V176E|ACHE_uc003uxg.2_Missense_Mutation_p.V176E|ACHE_uc003uxh.2_Missense_Mutation_p.V176E|ACHE_uc003uxi.2_Missense_Mutation_p.V176E|ACHE_uc003uxj.1_Missense_Mutation_p.V295E	NM_015831	NP_056646	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E5 precursor	176					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|negative regulation of synaptic transmission, cholinergic|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)									0.042735	-15.80573	10.422283	5	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100491327	100491327	142	7	A	T	T	T	78	6	ACHE	3	3
MUC17	140453	broad.mit.edu	37	7	100679973	100679973	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100679973C>T	uc003uxp.1	+	c.5276C>T	c.(5275-5277)ACG>ATG	p.T1759M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1759	Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.06087	-19.599019	26.72663	14	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100679973	100679973	10368	7	C	T	T	T	247	19	MUC17	1	1
RELN	5649	broad.mit.edu	37	7	103191701	103191701	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103191701C>G	uc003vca.2	-	c.6115G>C	c.(6115-6117)GTG>CTG	p.V2039L	RELN_uc010liz.2_Missense_Mutation_p.V2039L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2039					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.056338	-4.65945	10.026375	4	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103191701	103191701	13689	7	C	G	G	G	260	20	RELN	3	3
RELN	5649	broad.mit.edu	37	7	103338398	103338398	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103338398A>T	uc003vca.2	-	c.1045T>A	c.(1045-1047)TTG>ATG	p.L349M	RELN_uc010liz.2_Missense_Mutation_p.L349M	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	349					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.034003	-114.480268	38.572151	22	625	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103338398	103338398	13689	7	A	T	T	T	37	3	RELN	3	3
RELN	5649	broad.mit.edu	37	7	103474033	103474033	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103474033T>A	uc003vca.2	-	c.424A>T	c.(424-426)AGT>TGT	p.S142C	RELN_uc010liz.2_Missense_Mutation_p.S142C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	142	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.065327	-8.667998	30.353273	13	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103474033	103474033	13689	7	T	A	A	A	715	55	RELN	3	3
SRPK2	6733	broad.mit.edu	37	7	104844089	104844089	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:104844089G>A	uc003vcv.2	-	c.215C>T	c.(214-216)GCG>GTG	p.A72V	SRPK2_uc003vct.2_Missense_Mutation_p.A61V|SRPK2_uc003vcu.2_Missense_Mutation_p.A61V|SRPK2_uc003vcw.1_Missense_Mutation_p.A61V	NM_182692	NP_872634	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	61					angiogenesis|cell differentiation|innate immune response|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|protein phosphorylation|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)	5										326				0.171642	83.006157	110.311026	46	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104844089	104844089	15674	7	G	A	A	A	494	38	SRPK2	1	1
DOCK4	9732	broad.mit.edu	37	7	111387424	111387424	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111387424G>T	uc003vfy.2	-	c.4600C>A	c.(4600-4602)CAG>AAG	p.Q1534K	DOCK4_uc011kml.1_Missense_Mutation_p.Q370K|DOCK4_uc011kmm.1_Missense_Mutation_p.Q396K|DOCK4_uc003vfw.2_Missense_Mutation_p.Q939K|DOCK4_uc003vfx.2_Missense_Mutation_p.Q1489K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1489	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)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.243902	23.627719	26.079728	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111387424	111387424	4873	7	G	T	T	T	585	45	DOCK4	2	2
GPR85	54329	broad.mit.edu	37	7	112724234	112724234	+	Silent	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112724234A>T	uc010ljv.2	-	c.543T>A	c.(541-543)GCT>GCA	p.A181A	GPR85_uc003vgp.1_Silent_p.A181A|GPR85_uc003vgq.2_Silent_p.A181A|GPR85_uc010ljw.1_Silent_p.A181A	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	181	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.050314	-18.32804	15.758791	8	151	KEEP	---	---	---	---	capture		Silent	SNP	112724234	112724234	6990	7	A	T	T	T	184	15	GPR85	3	3
PPP1R3A	5506	broad.mit.edu	37	7	113519888	113519888	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:113519888C>T	uc010ljy.1	-	c.1259G>A	c.(1258-1260)GGA>GAA	p.G420E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	420					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.028986	-92.923476	24.89678	14	469	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113519888	113519888	12806	7	C	T	T	T	390	30	PPP1R3A	2	2
KCND2	3751	broad.mit.edu	37	7	119915394	119915394	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:119915394C>A	uc003vjj.1	+	c.708C>A	c.(706-708)TGC>TGA	p.C236*		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	236	Helical; Name=Segment S2; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(327;0.117)													0.060606	-4.953047	8.360635	4	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	119915394	119915394	8324	7	C	A	A	A	350	27	KCND2	5	1
PTPRZ1	5803	broad.mit.edu	37	7	121650745	121650745	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121650745C>A	uc003vjy.2	+	c.1645C>A	c.(1645-1647)CCA>ACA	p.P549T	PTPRZ1_uc003vjz.2_Missense_Mutation_p.P549T|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	549	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														0.209945	73.251811	87.372048	38	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121650745	121650745	13272	7	C	A	A	A	390	30	PTPRZ1	2	2
PTPRZ1	5803	broad.mit.edu	37	7	121651281	121651281	+	Silent	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121651281T>A	uc003vjy.2	+	c.2181T>A	c.(2179-2181)GCT>GCA	p.A727A	PTPRZ1_uc003vjz.2_Silent_p.A727A|PTPRZ1_uc011knt.1_Silent_p.A177A	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	727	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														0.122271	35.180957	67.140669	28	201	KEEP	---	---	---	---	capture		Silent	SNP	121651281	121651281	13272	7	T	A	A	A	717	56	PTPRZ1	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121651816	121651816	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121651816T>C	uc003vjy.2	+	c.2716T>C	c.(2716-2718)TCT>CCT	p.S906P	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	906	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														0.05291	-16.276296	23.591857	10	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121651816	121651816	13272	7	T	C	C	C	806	62	PTPRZ1	4	4
TAS2R16	50833	broad.mit.edu	37	7	122635480	122635480	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122635480G>T	uc003vkl.1	-	c.209C>A	c.(208-210)TCC>TAC	p.S70Y		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	70	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|integral to membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)	1														0.195946	54.283579	67.047567	29	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122635480	122635480	16091	7	G	T	T	T	533	41	TAS2R16	2	2
SLC13A1	6561	broad.mit.edu	37	7	122811842	122811842	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122811842C>A	uc003vkm.2	-	c.345G>T	c.(343-345)ATG>ATT	p.M115I	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	115	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)									0.030888	-150.066607	38.254696	24	753	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122811842	122811842	14886	7	C	A	A	A	273	21	SLC13A1	2	2
IQUB	154865	broad.mit.edu	37	7	123143294	123143294	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123143294G>C	uc003vkn.2	-	c.656C>G	c.(655-657)ACT>AGT	p.T219S	IQUB_uc003vko.2_Missense_Mutation_p.T219S|IQUB_uc010lkt.2_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.T219S|IQUB_uc003vkq.2_Missense_Mutation_p.T219S	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	219										ovary(3)|large_intestine(1)	4														0.025948	-95.876475	28.728986	13	488	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123143294	123143294	8123	7	G	C	C	C	468	36	IQUB	3	3
WASL	8976	broad.mit.edu	37	7	123334768	123334768	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123334768C>A	uc003vkz.2	-	c.826_splice	c.e8+1	p.A276_splice		NM_003941	NP_003932			Wiskott-Aldrich syndrome gene-like protein						actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity				0														0.173913	59.908275	76.062977	28	133	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	123334768	123334768	17828	7	C	A	A	A	234	18	WASL	5	2
HYAL4	23553	broad.mit.edu	37	7	123509102	123509102	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123509102T>A	uc003vlc.2	+	c.775T>A	c.(775-777)TAT>AAT	p.Y259N	HYAL4_uc011knz.1_Missense_Mutation_p.Y259N	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	259	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity				0														0.053659	-19.223016	23.841768	11	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123509102	123509102	7766	7	T	A	A	A	637	49	HYAL4	3	3
SPAM1	6677	broad.mit.edu	37	7	123593777	123593777	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123593777G>T	uc003vle.2	+	c.153G>T	c.(151-153)TGG>TGT	p.W51C	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.2_Missense_Mutation_p.W51C|SPAM1_uc003vlf.3_Missense_Mutation_p.W51C|SPAM1_uc010lku.2_Missense_Mutation_p.W51C	NM_003117	NP_003108	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 1	51					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)									0.063158	-6.59031	12.255388	6	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123593777	123593777	15489	7	G	T	T	T	559	43	SPAM1	2	2
GPR37	2861	broad.mit.edu	37	7	124387020	124387020	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:124387020C>G	uc003vli.2	-	c.1401G>C	c.(1399-1401)AGG>AGC	p.R467S		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	467	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.06135	-7.242259	25.450258	10	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124387020	124387020	6966	7	C	G	G	G	389	30	GPR37	3	3
GRM8	2918	broad.mit.edu	37	7	126249511	126249511	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126249511C>A	uc003vlr.2	-	c.1399G>T	c.(1399-1401)GCT>TCT	p.A467S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.A467S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	467	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.051546	-21.818949	19.480981	10	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126249511	126249511	7082	7	C	A	A	A	325	25	GRM8	2	2
LRRC4	64101	broad.mit.edu	37	7	127669173	127669173	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127669173G>T	uc003vmk.2	-	c.1521C>A	c.(1519-1521)CCC>CCA	p.P507P	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	507	Thr-rich.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)										0.12766	9.428835	15.770645	6	41	KEEP	---	---	---	---	capture		Silent	SNP	127669173	127669173	9372	7	G	T	T	T	496	39	LRRC4	1	1
METTL2B	55798	broad.mit.edu	37	7	128138162	128138162	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128138162C>A	uc003vnf.2	+	c.882C>A	c.(880-882)GGC>GGA	p.G294G	METTL2B_uc003vng.2_Silent_p.G229G|METTL2B_uc011kop.1_Silent_p.G158G	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	294							methyltransferase activity				0														0.181818	19.128041	24.351263	10	45	KEEP	---	---	---	---	capture		Silent	SNP	128138162	128138162	9890	7	C	A	A	A	327	26	METTL2B	2	2
FLNC	2318	broad.mit.edu	37	7	128492680	128492680	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128492680G>T	uc003vnz.3	+	c.5878G>T	c.(5878-5880)GGC>TGC	p.G1960C	FLNC_uc003voa.3_Missense_Mutation_p.G1927C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1960	Filamin 18.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.106061	5.240797	15.359972	7	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128492680	128492680	6177	7	G	T	T	T	559	43	FLNC	2	2
FAM40B	57464	broad.mit.edu	37	7	129098167	129098167	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129098167A>T	uc011koy.1	+	c.1150A>T	c.(1150-1152)ACC>TCC	p.T384S	FAM40B_uc003vow.2_Missense_Mutation_p.T384S|FAM40B_uc011koz.1_5'UTR	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	384											0														0.096154	2.437512	10.94095	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129098167	129098167	5782	7	A	T	T	T	26	2	FAM40B	3	3
TSGA14	95681	broad.mit.edu	37	7	130044495	130044495	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130044495C>T	uc003vpz.2	-	c.332G>A	c.(331-333)GGG>GAG	p.G111E	TSGA14_uc010lmf.2_5'UTR|TSGA14_uc003vqa.2_Missense_Mutation_p.G111E|TSGA14_uc011kpg.1_Missense_Mutation_p.G95E	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	111					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)													0.074303	-5.486213	54.574635	24	299	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130044495	130044495	17171	7	C	T	T	T	286	22	TSGA14	2	2
PLXNA4	91584	broad.mit.edu	37	7	131832667	131832667	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131832667C>A	uc003vra.3	-	c.4856G>T	c.(4855-4857)AGT>ATT	p.S1619I	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1619	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.040146	-41.438716	21.18956	11	263	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131832667	131832667	12548	7	C	A	A	A	260	20	PLXNA4	2	2
PLXNA4	91584	broad.mit.edu	37	7	131848973	131848973	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131848973G>T	uc003vra.3	-	c.4428C>A	c.(4426-4428)GCC>GCA	p.A1476A		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1476	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.144444	19.212976	30.172676	13	77	KEEP	---	---	---	---	capture		Silent	SNP	131848973	131848973	12548	7	G	T	T	T	600	47	PLXNA4	2	2
PLXNA4	91584	broad.mit.edu	37	7	131887521	131887521	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131887521C>A	uc003vra.3	-	c.2470G>T	c.(2470-2472)GGC>TGC	p.G824C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	824	PSI 3.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.291667	17.513182	18.447729	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131887521	131887521	12548	7	C	A	A	A	273	21	PLXNA4	2	2
PLXNA4	91584	broad.mit.edu	37	7	131888117	131888117	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131888117C>T	uc003vra.3	-	c.2360G>A	c.(2359-2361)GGG>GAG	p.G787E		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	787	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.051383	-25.493917	28.266592	13	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131888117	131888117	12548	7	C	T	T	T	286	22	PLXNA4	2	2
SLC35B4	84912	broad.mit.edu	37	7	133979774	133979774	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:133979774G>C	uc003vrn.2	-	c.807C>G	c.(805-807)GTC>GTG	p.V269V	SLC35B4_uc010lmk.2_Silent_p.V133V|SLC35B4_uc010lml.1_Intron	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	269	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity				0														0.094033	57.561812	149.147345	52	501	KEEP	---	---	---	---	capture		Silent	SNP	133979774	133979774	15075	7	G	C	C	C	574	45	SLC35B4	3	3
CHRM2	1129	broad.mit.edu	37	7	136700864	136700864	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136700864C>A	uc003vtf.1	+	c.1252C>A	c.(1252-1254)CCC>ACC	p.P418T	CHRM2_uc003vtg.1_Missense_Mutation_p.P418T|CHRM2_uc003vtj.1_Missense_Mutation_p.P418T|CHRM2_uc003vtk.1_Missense_Mutation_p.P418T|CHRM2_uc003vtl.1_Missense_Mutation_p.P418T|CHRM2_uc003vtm.1_Missense_Mutation_p.P418T|CHRM2_uc003vti.1_Missense_Mutation_p.P418T|CHRM2_uc003vto.1_Missense_Mutation_p.P418T|CHRM2_uc003vtn.1_Missense_Mutation_p.P418T	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	418	Extracellular (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.090452	9.944894	77.245498	36	362	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136700864	136700864	3511	7	C	A	A	A	286	22	CHRM2	2	2
DGKI	9162	broad.mit.edu	37	7	137075986	137075986	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137075986C>A	uc003vtt.2	-	c.3178G>T	c.(3178-3180)GAC>TAC	p.D1060Y	DGKI_uc003vtu.2_Missense_Mutation_p.D729Y	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1060					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.101695	8.94937	36.93816	18	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137075986	137075986	4650	7	C	A	A	A	390	30	DGKI	2	2
EPHB6	2051	broad.mit.edu	37	7	142562017	142562017	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142562017C>A	uc011kst.1	+	c.459C>A	c.(457-459)ACC>ACA	p.T153T	EPHB6_uc011ksu.1_Silent_p.T153T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	153	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.063063	-16.408245	27.721342	14	208	KEEP	---	---	---	---	capture		Silent	SNP	142562017	142562017	5371	7	C	A	A	A	262	21	EPHB6	2	2
TRPV6	55503	broad.mit.edu	37	7	142574948	142574948	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142574948G>A	uc003wbx.1	-	c.434C>T	c.(433-435)GCC>GTC	p.A145V	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.A16V	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	145	ANK 3.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(1)	1	Melanoma(164;0.059)													0.048611	-17.894193	13.201037	7	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142574948	142574948	17151	7	G	A	A	A	546	42	TRPV6	2	2
OR9A2	135924	broad.mit.edu	37	7	142723539	142723539	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142723539G>A	uc003wcc.1	-	c.681C>T	c.(679-681)GCC>GCT	p.A227A		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.059)													0.185714	59.87342	72.829912	26	114	KEEP	---	---	---	---	capture		Silent	SNP	142723539	142723539	11659	7	G	A	A	A	444	35	OR9A2	2	2
OR6V1	346517	broad.mit.edu	37	7	142749819	142749819	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142749819C>A	uc011ksv.1	+	c.382C>A	c.(382-384)CTG>ATG	p.L128M		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)													0.179372	79.492837	101.042247	40	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142749819	142749819	11622	7	C	A	A	A	259	20	OR6V1	2	2
C7orf33	202865	broad.mit.edu	37	7	148288076	148288076	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148288076C>A	uc003wew.2	+	c.59C>A	c.(58-60)CCC>CAC	p.P20H		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	20											0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)											0.108333	11.595493	29.835915	13	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148288076	148288076	2495	7	C	A	A	A	286	22	C7orf33	2	2
ZNF862	643641	broad.mit.edu	37	7	149559100	149559100	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149559100G>C	uc010lpn.2	+	c.2851G>C	c.(2851-2853)GAC>CAC	p.D951H	ZNF862_uc003wgm.2_Non-coding_Transcript	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1														0.054054	-10.013961	21.004943	8	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149559100	149559100	18798	7	G	C	C	C	585	45	ZNF862	3	3
GIMAP4	55303	broad.mit.edu	37	7	150269488	150269488	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150269488C>T	uc011kuv.1	+	c.372C>T	c.(370-372)ACC>ACT	p.T124T	GIMAP4_uc011kuu.1_Intron|GIMAP4_uc003whl.2_Silent_p.T110T	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	110							GTP binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.04	-35.316092	21.649651	10	240	KEEP	---	---	---	---	capture		Silent	SNP	150269488	150269488	6649	7	C	T	T	T	301	24	GIMAP4	2	2
GBX1	2636	broad.mit.edu	37	7	150864102	150864102	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150864102C>A	uc011kvg.1	-	c.534G>T	c.(532-534)CTG>CTT	p.L178L		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	178	Pro-rich.				regulation of transcription, DNA-dependent	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.164384	20.851355	28.595742	12	61	KEEP	---	---	---	---	capture		Silent	SNP	150864102	150864102	6546	7	C	A	A	A	314	25	GBX1	2	2
TMEM195	392636	broad.mit.edu	37	7	15470631	15470631	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15470631C>A	uc003stb.1	-	c.512G>T	c.(511-513)TGG>TTG	p.W171L		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	171					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.080972	-2.568832	41.935162	20	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15470631	15470631	16652	7	C	A	A	A	273	21	TMEM195	2	2
MACC1	346389	broad.mit.edu	37	7	20198295	20198295	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20198295T>G	uc003sus.3	-	c.1689A>C	c.(1687-1689)CAA>CAC	p.Q563H	MACC1_uc010kug.2_Missense_Mutation_p.Q563H	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	563	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)	2														0.052786	-27.027307	44.997553	18	323	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20198295	20198295	9520	7	T	G	G	G	829	64	MACC1	4	4
DNAH11	8701	broad.mit.edu	37	7	21640543	21640543	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21640543G>T	uc003svc.2	+	c.3250G>T	c.(3250-3252)GAA>TAA	p.E1084*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1084	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														0.131488	48.45402	86.604179	38	251	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21640543	21640543	4781	7	G	T	T	T	429	33	DNAH11	5	2
NUPL2	11097	broad.mit.edu	37	7	23240332	23240332	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23240332A>T	uc003svu.2	+	c.1240A>T	c.(1240-1242)AAG>TAG	p.K414*	NUPL2_uc003svv.2_Non-coding_Transcript|NUPL2_uc003svw.2_Nonsense_Mutation_p.K291*|NUPL2_uc011jyw.1_Non-coding_Transcript|NUPL2_uc003svx.2_Nonsense_Mutation_p.K291*|NUPL2_uc011jyx.1_Nonsense_Mutation_p.K186*	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	414	Interaction with GLE1.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2														0.04878	-16.756743	9.879166	6	117	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23240332	23240332	11180	7	A	T	T	T	13	1	NUPL2	5	3
HOXA5	3202	broad.mit.edu	37	7	27182841	27182841	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27182841G>A	uc003syn.1	-	c.386C>T	c.(385-387)TCG>TTG	p.S129L		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	129					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						Colon(119;75 2200 7557 42868)								0.130435	3.90888	6.965253	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27182841	27182841	7587	7	G	A	A	A	481	37	HOXA5	1	1
AQP1	358	broad.mit.edu	37	7	30961709	30961709	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30961709G>A	uc011kac.1	+	c.593G>A	c.(592-594)GGC>GAC	p.G198D	AQP1_uc003tbv.1_Missense_Mutation_p.G138D|AQP1_uc010kwf.1_Missense_Mutation_p.G55D|AQP1_uc010kwg.1_Missense_Mutation_p.G19D|AQP1_uc010kwh.1_Missense_Mutation_p.G87D	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	138	Helical; Name=Helix 4.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)									0.04712	-25.527664	15.984586	9	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30961709	30961709	832	7	G	A	A	A	546	42	AQP1	2	2
EPDR1	54749	broad.mit.edu	37	7	37988507	37988507	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37988507A>T	uc003tfp.2	+	c.695A>T	c.(694-696)CAG>CTG	p.Q232L	EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.Q51L	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	112					cell-matrix adhesion	extracellular region	calcium ion binding				0														0.03886	-57.70412	30.937132	15	371	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37988507	37988507	5356	7	A	T	T	T	91	7	EPDR1	3	3
SDK1	221935	broad.mit.edu	37	7	4119117	4119117	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4119117C>A	uc003smx.2	+	c.3225C>A	c.(3223-3225)AAC>AAA	p.N1075K	SDK1_uc010kso.2_Missense_Mutation_p.N351K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1075	Fibronectin type-III 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.054622	-26.681032	23.044357	13	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4119117	4119117	14454	7	C	A	A	A	233	18	SDK1	2	2
INHBA	3624	broad.mit.edu	37	7	41729504	41729504	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41729504G>A	uc003thq.2	-	c.1025C>T	c.(1024-1026)CCC>CTC	p.P342L	INHBA_uc003thr.2_Missense_Mutation_p.P342L	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	342					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity|transcription activator activity			lung(5)|ovary(1)	6										102	TSP Lung(11;0.080)			0.057895	-16.531416	22.415948	11	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41729504	41729504	8042	7	G	A	A	A	559	43	INHBA	2	2
HECW1	23072	broad.mit.edu	37	7	43484000	43484000	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43484000T>C	uc003tid.1	+	c.1229T>C	c.(1228-1230)ATA>ACA	p.I410T	HECW1_uc011kbi.1_Missense_Mutation_p.I410T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	410					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.231884	45.775758	50.310511	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43484000	43484000	7325	7	T	C	C	C	637	49	HECW1	4	4
CAMK2B	816	broad.mit.edu	37	7	44283045	44283045	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44283045C>A	uc003tkq.2	-	c.496G>T	c.(496-498)GGG>TGG	p.G166W	CAMK2B_uc003tkp.2_Missense_Mutation_p.G166W|CAMK2B_uc003tkx.2_Missense_Mutation_p.G166W|CAMK2B_uc010kyd.2_Non-coding_Transcript|CAMK2B_uc003tkr.2_Missense_Mutation_p.G166W|CAMK2B_uc003tks.2_Missense_Mutation_p.G166W|CAMK2B_uc003tku.2_Missense_Mutation_p.G166W|CAMK2B_uc003tkv.2_Missense_Mutation_p.G166W|CAMK2B_uc003tkt.2_Missense_Mutation_p.G166W|CAMK2B_uc003tkw.2_Missense_Mutation_p.G166W|CAMK2B_uc010kyc.2_Missense_Mutation_p.G166W	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	166	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2										200				0.121212	8.868914	18.139581	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44283045	44283045	2717	7	C	A	A	A	286	22	CAMK2B	2	2
PKD1L1	168507	broad.mit.edu	37	7	47869105	47869105	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47869105G>A	uc003tny.1	-	c.6653C>T	c.(6652-6654)TCT>TTT	p.S2218F	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2218	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.187726	116.920775	142.230177	52	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47869105	47869105	12388	7	G	A	A	A	429	33	PKD1L1	2	2
SUN3	256979	broad.mit.edu	37	7	48026964	48026964	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48026964C>T	uc003tof.2	-	c.1037G>A	c.(1036-1038)CGA>CAA	p.R346Q	SUN3_uc010kyq.2_Missense_Mutation_p.R258Q|SUN3_uc003tog.2_Missense_Mutation_p.R346Q|SUN3_uc011kcf.1_Missense_Mutation_p.R334Q	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	346	SUN.					integral to membrane				central_nervous_system(1)	1														0.05303	-27.014911	28.63586	14	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48026964	48026964	15913	7	C	T	T	T	403	31	SUN3	1	1
ABCA13	154664	broad.mit.edu	37	7	48311678	48311678	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48311678G>A	uc003toq.2	+	c.2415G>A	c.(2413-2415)CAG>CAA	p.Q805Q	ABCA13_uc010kyr.2_Silent_p.Q308Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	805					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.061538	-4.451335	8.586583	4	61	KEEP	---	---	---	---	capture		Silent	SNP	48311678	48311678	32	7	G	A	A	A	425	33	ABCA13	2	2
POM121L12	285877	broad.mit.edu	37	7	53104038	53104038	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53104038C>A	uc003tpz.2	+	c.674C>A	c.(673-675)GCG>GAG	p.A225E		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	225											0														0.056604	-8.876243	12.959334	6	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53104038	53104038	12669	7	C	A	A	A	351	27	POM121L12	1	1
POM121L12	285877	broad.mit.edu	37	7	53104052	53104052	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53104052G>T	uc003tpz.2	+	c.688G>T	c.(688-690)GTG>TTG	p.V230L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	230											0														0.188889	37.217786	45.296628	17	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53104052	53104052	12669	7	G	T	T	T	520	40	POM121L12	1	1
KCTD7	154881	broad.mit.edu	37	7	66104113	66104113	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:66104113A>T	uc003tve.2	+	c.764A>T	c.(763-765)CAG>CTG	p.Q255L	RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Missense_Mutation_p.Q255L	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	potassium channel tetramerisation domain	255						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)	3														0.059259	-10.906153	16.540989	8	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66104113	66104113	8420	7	A	T	T	T	91	7	KCTD7	3	3
WBSCR17	64409	broad.mit.edu	37	7	70853323	70853323	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:70853323C>A	uc003tvy.2	+	c.525C>A	c.(523-525)GCC>GCA	p.A175A	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	175	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)												0.119171	29.24712	56.678834	23	170	KEEP	---	---	---	---	capture		Silent	SNP	70853323	70853323	17836	7	C	A	A	A	288	23	WBSCR17	1	1
PCLO	27445	broad.mit.edu	37	7	82544299	82544299	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82544299C>G	uc003uhx.2	-	c.13003G>C	c.(13003-13005)GCC>CCC	p.A4335P	PCLO_uc003uhv.2_Missense_Mutation_p.A4335P|PCLO_uc010lec.2_Missense_Mutation_p.A1300P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4266	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.071429	0.131295	26.629366	10	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82544299	82544299	12003	7	C	G	G	G	325	25	PCLO	3	3
SAMD9	54809	broad.mit.edu	37	7	92731594	92731594	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92731594C>G	uc003umf.2	-	c.3817G>C	c.(3817-3819)GAA>CAA	p.E1273Q	SAMD9_uc003umg.2_Missense_Mutation_p.E1273Q	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1273						cytoplasm				ovary(3)|breast(1)|central_nervous_system(1)	5	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)											0.182292	87.720315	105.911112	35	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92731594	92731594	14306	7	C	G	G	G	377	29	SAMD9	3	3
PEG10	23089	broad.mit.edu	37	7	94293493	94293493	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94293493G>T	uc003uno.2	+	c.625G>T	c.(625-627)GGC>TGC	p.G209C	PEG10_uc011kie.1_Missense_Mutation_p.G285C	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1/2	209	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)											0.053333	-22.843668	24.411492	12	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94293493	94293493	12140	7	G	T	T	T	559	43	PEG10	2	2
KLF10	7071	broad.mit.edu	37	8	103663859	103663859	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:103663859G>A	uc011lhk.1	-	c.701C>T	c.(700-702)CCT>CTT	p.P234L	KLF10_uc011lhj.1_Missense_Mutation_p.P223L	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	234					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			Esophageal Squamous(16;495 519 2144 16528 44005)						OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.246154	42.068017	45.881364	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103663859	103663859	8650	8	G	A	A	A	455	35	KLF10	2	2
RP1L1	94137	broad.mit.edu	37	8	10467245	10467245	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10467245T>A	uc003wtc.2	-	c.4363A>T	c.(4363-4365)AGT>TGT	p.S1455C		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1455					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.096939	10.978019	42.886436	19	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10467245	10467245	14012	8	T	A	A	A	689	53	RP1L1	3	3
RP1L1	94137	broad.mit.edu	37	8	10469636	10469636	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10469636G>T	uc003wtc.2	-	c.1972C>A	c.(1972-1974)CGA>AGA	p.R658R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	658					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.110092	12.268568	28.627662	12	97	KEEP	---	---	---	---	capture		Silent	SNP	10469636	10469636	14012	8	G	T	T	T	506	39	RP1L1	1	1
RIMS2	9699	broad.mit.edu	37	8	104928756	104928756	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104928756G>T	uc003yls.2	+	c.1361G>T	c.(1360-1362)AGG>ATG	p.R454M	RIMS2_uc003ylp.2_Missense_Mutation_p.R676M|RIMS2_uc003ylw.2_Missense_Mutation_p.R484M|RIMS2_uc003ylq.2_Missense_Mutation_p.R484M|RIMS2_uc003ylr.2_Missense_Mutation_p.R531M|RIMS2_uc003ylt.2_Missense_Mutation_p.R77M|RIMS2_uc003ylu.1_Missense_Mutation_p.R67M|RIMS2_uc003ylv.1_Missense_Mutation_p.R67M	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	754	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.04065	-18.23732	9.712401	5	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104928756	104928756	13845	8	G	T	T	T	455	35	RIMS2	2	2
ANGPT1	284	broad.mit.edu	37	8	108509556	108509556	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108509556A>T	uc003ymn.2	-	c.231T>A	c.(229-231)GAT>GAA	p.D77E	ANGPT1_uc003ymo.2_Missense_Mutation_p.D77E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	77					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)	3	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)											0.04955	-26.461528	21.368038	11	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108509556	108509556	613	8	A	T	T	T	50	4	ANGPT1	3	3
PKHD1L1	93035	broad.mit.edu	37	8	110509297	110509297	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110509297G>T	uc003yne.2	+	c.10476_splice	c.e64+1	p.Q3492_splice		NM_177531	NP_803875			fibrocystin L precursor						immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.033708	-46.269484	16.925297	9	258	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	110509297	110509297	12397	8	G	T	T	T	572	44	PKHD1L1	5	2
CSMD3	114788	broad.mit.edu	37	8	113246670	113246670	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113246670C>A	uc003ynu.2	-	c.10664G>T	c.(10663-10665)CGC>CTC	p.R3555L	CSMD3_uc003yns.2_Missense_Mutation_p.R2757L|CSMD3_uc003ynt.2_Missense_Mutation_p.R3515L|CSMD3_uc011lhx.1_Missense_Mutation_p.R3386L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3555	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52									p.R3555P(SNU46-Tumor)	2888	TCGA Ovarian(7;0.080)			0.032609	-78.51301	31.17243	15	445	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113246670	113246670	4087	8	C	A	A	A	351	27	CSMD3	1	1
CSMD3	114788	broad.mit.edu	37	8	113317128	113317128	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113317128G>T	uc003ynu.2	-	c.8088C>A	c.(8086-8088)AGC>AGA	p.S2696R	CSMD3_uc003yns.2_Missense_Mutation_p.S1898R|CSMD3_uc003ynt.2_Missense_Mutation_p.S2656R|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2696	Extracellular (Potential).|Sushi 16.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52									p.S2696S(22RV1-Tumor)	2888	TCGA Ovarian(7;0.080)			0.0625	-4.654857	8.115538	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113317128	113317128	4087	8	G	T	T	T	594	46	CSMD3	2	2
BLK	640	broad.mit.edu	37	8	11405588	11405588	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11405588C>A	uc003wty.2	+	c.223C>A	c.(223-225)CGG>AGG	p.R75R	BLK_uc003wtz.2_Silent_p.R4R	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	75	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion|protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|ovary(1)	2			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)						676				0.068627	-3.226461	16.369399	7	95	KEEP	---	---	---	---	capture		Silent	SNP	11405588	11405588	1469	8	C	A	A	A	399	31	BLK	1	1
TAF2	6873	broad.mit.edu	37	8	120774807	120774807	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120774807C>A	uc003you.2	-	c.2406G>T	c.(2404-2406)CTG>CTT	p.L802L		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	802					G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|promoter binding|protein binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)	5	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)											0.329787	85.388092	87.804621	31	63	KEEP	---	---	---	---	capture		Silent	SNP	120774807	120774807	16045	8	C	A	A	A	262	21	TAF2	2	2
ATAD2	29028	broad.mit.edu	37	8	124371467	124371467	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124371467G>T	uc003yqh.3	-	c.1376C>A	c.(1375-1377)CCC>CAC	p.P459H	ATAD2_uc011lii.1_Missense_Mutation_p.P250H|ATAD2_uc003yqi.3_Non-coding_Transcript|ATAD2_uc003yqj.2_Missense_Mutation_p.P459H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)											0.054645	-21.674459	16.564298	10	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124371467	124371467	1090	8	G	T	T	T	559	43	ATAD2	2	2
FAM91A1	157769	broad.mit.edu	37	8	124787528	124787528	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124787528G>C	uc003yqv.2	+	c.299G>C	c.(298-300)GGG>GCG	p.G100A	FAM91A1_uc011lik.1_Missense_Mutation_p.G100A|FAM91A1_uc011lil.1_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	100										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)											0.2	59.110909	69.968286	26	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124787528	124787528	5887	8	G	C	C	C	559	43	FAM91A1	3	3
FER1L6	654463	broad.mit.edu	37	8	125115453	125115453	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125115453C>A	uc003yqw.2	+	c.5192C>A	c.(5191-5193)GCC>GAC	p.A1731D		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1731	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.039604	-80.999289	34.511436	20	485	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125115453	125115453	6052	8	C	A	A	A	338	26	FER1L6	2	2
ZNF572	137209	broad.mit.edu	37	8	125988733	125988733	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125988733T>G	uc003yrr.2	+	c.223T>G	c.(223-225)TGG>GGG	p.W75G		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)											0.030717	-49.874002	20.843088	9	284	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125988733	125988733	18599	8	T	G	G	G	663	51	ZNF572	4	4
TG	7038	broad.mit.edu	37	8	133980047	133980047	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133980047C>T	uc003ytw.2	+	c.5695C>T	c.(5695-5697)CAG>TAG	p.Q1899*	TG_uc010mdw.2_Nonsense_Mutation_p.Q658*|TG_uc011ljb.1_Nonsense_Mutation_p.Q268*|TG_uc011ljc.1_Nonsense_Mutation_p.Q53*|TG_uc010mdx.1_Non-coding_Transcript	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1899	Type IIIA.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.216216	48.499101	56.709161	24	87	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	133980047	133980047	16341	8	C	T	T	T	325	25	TG	5	2
FAM135B	51059	broad.mit.edu	37	8	139164761	139164761	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139164761C>G	uc003yuy.2	-	c.1957G>C	c.(1957-1959)GAT>CAT	p.D653H	FAM135B_uc003yux.2_Missense_Mutation_p.D554H|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Missense_Mutation_p.D215H|FAM135B_uc003yvb.2_Missense_Mutation_p.D215H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	653										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.046218	-25.974707	26.317662	11	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139164761	139164761	5646	8	C	G	G	G	416	32	FAM135B	3	3
FAM135B	51059	broad.mit.edu	37	8	139165438	139165438	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139165438G>A	uc003yuy.2	-	c.1280C>T	c.(1279-1281)CCT>CTT	p.P427L	FAM135B_uc003yux.2_Missense_Mutation_p.P328L|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_5'UTR|FAM135B_uc003yvb.2_5'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	427										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.050505	-9.505727	11.690228	5	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139165438	139165438	5646	8	G	A	A	A	455	35	FAM135B	2	2
COL22A1	169044	broad.mit.edu	37	8	139668138	139668138	+	Splice_Site_SNP	SNP	A	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139668138A>C	uc003yvd.2	-	c.3333_splice	c.e45+1	p.K1111_splice	COL22A1_uc011ljo.1_Splice_Site_SNP_p.K391_splice	NM_152888	NP_690848			collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.026135	-137.013263	43.470763	19	708	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	139668138	139668138	3819	8	A	C	C	C	182	14	COL22A1	5	4
COL22A1	169044	broad.mit.edu	37	8	139675980	139675980	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139675980G>T	uc003yvd.2	-	c.3154C>A	c.(3154-3156)CCT>ACT	p.P1052T	COL22A1_uc011ljo.1_Missense_Mutation_p.P332T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1052	Pro-rich.|Gly-rich.|Collagen-like 9.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.044776	-27.601937	16.952467	9	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139675980	139675980	3819	8	G	T	T	T	559	43	COL22A1	2	2
COL22A1	169044	broad.mit.edu	37	8	139890307	139890307	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139890307G>T	uc003yvd.2	-	c.344C>A	c.(343-345)ACC>AAC	p.T115N		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	115	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.291667	18.218122	19.149538	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139890307	139890307	3819	8	G	T	T	T	572	44	COL22A1	2	2
BAI1	575	broad.mit.edu	37	8	143558885	143558885	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143558885G>C	uc003ywm.2	+	c.1362G>C	c.(1360-1362)AAG>AAC	p.K454N		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	454	Extracellular (Potential).|TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)									829				0.421053	29.297849	29.400992	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143558885	143558885	1319	8	G	C	C	C	464	36	BAI1	3	3
CYP11B1	1584	broad.mit.edu	37	8	143956492	143956492	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143956492G>C	uc010mey.2	-	c.1492C>G	c.(1492-1494)CGC>GGC	p.R498G	CYP11B1_uc010mex.2_Missense_Mutation_p.R126G|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxi.2_Missense_Mutation_p.R427G|CYP11B1_uc003yxj.2_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	427					aldosterone biosynthetic process|cortisol biosynthetic process|glucose homeostasis|immune response|oxidation-reduction process|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									0.038462	-34.785112	19.012549	9	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143956492	143956492	4310	8	G	C	C	C	494	38	CYP11B1	3	3
CYP11B2	1585	broad.mit.edu	37	8	143996211	143996211	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143996211G>C	uc003yxk.1	-	c.709C>G	c.(709-711)CTC>GTC	p.L237V		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	237					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.294118	39.71765	41.645633	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143996211	143996211	4311	8	G	C	C	C	442	34	CYP11B2	3	3
PLEC	5339	broad.mit.edu	37	8	144990835	144990835	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144990835T>A	uc003zaf.1	-	c.13565A>T	c.(13564-13566)CAG>CTG	p.Q4522L	PLEC_uc003zab.1_Missense_Mutation_p.Q4385L|PLEC_uc003zac.1_Missense_Mutation_p.Q4389L|PLEC_uc003zad.2_Missense_Mutation_p.Q4385L|PLEC_uc003zae.1_Missense_Mutation_p.Q4353L|PLEC_uc003zag.1_Missense_Mutation_p.Q4363L|PLEC_uc003zah.2_Missense_Mutation_p.Q4371L|PLEC_uc003zaj.2_Missense_Mutation_p.Q4412L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4522	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.3	16.242205	16.957032	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144990835	144990835	12478	8	T	A	A	A	715	55	PLEC	3	3
ADRA1A	148	broad.mit.edu	37	8	26721813	26721813	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:26721813T>A	uc003xfc.1	-	c.674A>T	c.(673-675)GAC>GTC	p.D225V	ADRA1A_uc010lul.1_Missense_Mutation_p.D225V|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.D225V|ADRA1A_uc010lum.1_Missense_Mutation_p.D225V|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.D225V|ADRA1A_uc003xfh.1_Missense_Mutation_p.D225V	NM_033303	NP_150646	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 2	225	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			ovary(1)|breast(1)|skin(1)	3		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)									0.102564	1.972853	8.112432	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26721813	26721813	335	8	T	A	A	A	754	58	ADRA1A	3	3
TEX15	56154	broad.mit.edu	37	8	30695554	30695554	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30695554C>T	uc003xil.2	-	c.7097G>A	c.(7096-7098)AGC>AAC	p.S2366N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2366										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.030151	-36.231935	11.982408	6	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30695554	30695554	16306	8	C	T	T	T	364	28	TEX15	2	2
CSMD1	64478	broad.mit.edu	37	8	3263598	3263598	+	Silent	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3263598T>A	uc011kwk.1	-	c.2220A>T	c.(2218-2220)ATA>ATT	p.I740I	CSMD1_uc011kwj.1_Silent_p.I132I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	740	Sushi 4.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.157143	20.82095	28.637725	11	59	KEEP	---	---	---	---	capture		Silent	SNP	3263598	3263598	4085	8	T	A	A	A	732	57	CSMD1	3	3
KCNU1	157855	broad.mit.edu	37	8	36793164	36793164	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36793164T>G	uc010lvw.2	+	c.3176T>G	c.(3175-3177)GTA>GGA	p.V1059G		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1059	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.084806	7.878724	57.498764	24	259	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36793164	36793164	8398	8	T	G	G	G	741	57	KCNU1	4	4
ANK1	286	broad.mit.edu	37	8	41585513	41585513	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41585513C>A	uc003xom.2	-	c.339G>T	c.(337-339)ACG>ACT	p.T113T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.T80T|ANK1_uc003xoj.2_Silent_p.T80T|ANK1_uc003xok.2_Silent_p.T80T|ANK1_uc003xol.2_Silent_p.T80T	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	80	89 kDa domain.|ANK 2.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.039062	-19.260702	10.026669	5	123	KEEP	---	---	---	---	capture		Silent	SNP	41585513	41585513	623	8	C	A	A	A	288	23	ANK1	1	1
PLAT	5327	broad.mit.edu	37	8	42038173	42038173	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42038173G>A	uc003xos.2	-	c.920C>T	c.(919-921)CCT>CTT	p.P307L	PLAT_uc010lxf.1_Missense_Mutation_p.P224L|PLAT_uc010lxg.1_Missense_Mutation_p.P132L|PLAT_uc003xot.2_Missense_Mutation_p.P261L|PLAT_uc011lcm.1_Missense_Mutation_p.P218L|PLAT_uc011lcn.1_Missense_Mutation_p.P181L	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	307					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)					176				0.294479	134.063253	140.208553	48	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42038173	42038173	12447	8	G	A	A	A	455	35	PLAT	2	2
HOOK3	84376	broad.mit.edu	37	8	42828543	42828543	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42828543G>T	uc003xpr.2	+	c.1233_splice	c.e12+1	p.D411_splice	HOOK3_uc010lxq.1_Splice_Site_SNP_p.D411_splice	NM_032410	NP_115786			golgi-associated microtubule-binding protein						cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)											0.181818	17.171286	21.358899	8	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42828543	42828543	7576	8	G	T	T	T	520	40	HOOK3	5	1
PRKDC	5591	broad.mit.edu	37	8	48711809	48711809	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48711809C>A	uc003xqi.2	-	c.10259G>T	c.(10258-10260)TGT>TTT	p.C3420F	PRKDC_uc003xqj.2_Missense_Mutation_p.C3420F|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3420	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.039683	-18.036198	10.757764	5	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48711809	48711809	12964	8	C	A	A	A	221	17	PRKDC	2	2
SNTG1	54212	broad.mit.edu	37	8	51617208	51617208	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51617208G>C	uc010lxy.1	+	c.1087G>C	c.(1087-1089)GAG>CAG	p.E363Q	SNTG1_uc003xqs.1_Missense_Mutation_p.E363Q|SNTG1_uc010lxz.1_Missense_Mutation_p.E363Q|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	363	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.065116	-2.334172	39.8967	14	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51617208	51617208	15374	8	G	C	C	C	585	45	SNTG1	3	3
RP1	6101	broad.mit.edu	37	8	55533650	55533650	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55533650A>T	uc003xsd.1	+	c.124A>T	c.(124-126)AAG>TAG	p.K42*	RP1_uc011ldy.1_Nonsense_Mutation_p.K42*	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	42	Doublecortin 1.				cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			Colon(91;1014 1389 7634 14542 40420)								0.047619	-9.759405	8.529749	4	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55533650	55533650	14011	8	A	T	T	T	65	5	RP1	5	3
PLAG1	5324	broad.mit.edu	37	8	57079580	57079580	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57079580T>C	uc003xsq.3	-	c.725A>G	c.(724-726)AAG>AGG	p.K242R	PLAG1_uc003xsr.3_Missense_Mutation_p.K242R|PLAG1_uc010lyi.2_Missense_Mutation_p.K242R|PLAG1_uc010lyj.2_Missense_Mutation_p.K160R	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	242	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)							45				0.05618	-22.584863	51.122044	20	336	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57079580	57079580	12444	8	T	C	C	C	728	56	PLAG1	4	4
CYP7A1	1581	broad.mit.edu	37	8	59410854	59410854	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59410854G>T	uc003xtm.3	-	c.255C>A	c.(253-255)TAC>TAA	p.Y85*		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	85					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|oxidation-reduction process|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)												0.045752	-42.523865	24.944921	14	292	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	59410854	59410854	4361	8	G	T	T	T	568	44	CYP7A1	5	2
ANGPT2	285	broad.mit.edu	37	8	6371302	6371302	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6371302G>T	uc003wqj.3	-	c.1096C>A	c.(1096-1098)CAG>AAG	p.Q366K	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.Q365K|ANGPT2_uc010lri.2_Missense_Mutation_p.Q314K|ANGPT2_uc003wql.3_Missense_Mutation_p.Q365K	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	366	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding				0		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)										0.089888	-0.889278	14.298438	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6371302	6371302	614	8	G	T	T	T	585	45	ANGPT2	2	2
SLCO5A1	81796	broad.mit.edu	37	8	70585148	70585148	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70585148G>A	uc003xyl.2	-	c.2503C>T	c.(2503-2505)CCG>TCG	p.P835S	SLCO5A1_uc010lzb.2_Missense_Mutation_p.P780S|SLCO5A1_uc011lfa.1_Non-coding_Transcript|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	835						integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)											0.0625	-8.40772	20.098364	9	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70585148	70585148	15228	8	G	A	A	A	559	43	SLCO5A1	2	2
NCOA2	10499	broad.mit.edu	37	8	71075713	71075713	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:71075713G>A	uc003xyn.1	-	c.819C>T	c.(817-819)CGC>CGT	p.R273R		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	273					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)	soft_tissue(4)|lung(2)|skin(2)|ovary(1)|pancreas(1)	10	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)							476				0.068182	-5.925039	19.535607	9	123	KEEP	---	---	---	---	capture		Silent	SNP	71075713	71075713	10628	8	G	A	A	A	535	42	NCOA2	2	2
NCOA2	10499	broad.mit.edu	37	8	71087017	71087017	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:71087017C>A	uc003xyn.1	-	c.337G>T	c.(337-339)GAT>TAT	p.D113Y		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	113					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)	soft_tissue(4)|lung(2)|skin(2)|ovary(1)|pancreas(1)	10	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)							476				0.051724	-35.917725	25.772587	15	275	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71087017	71087017	10628	8	C	A	A	A	390	30	NCOA2	2	2
RPL7	6129	broad.mit.edu	37	8	74205838	74205838	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:74205838C>A	uc003xzg.2	-	c.10G>T	c.(10-12)GTA>TTA	p.V4L	RPL7_uc003xzh.1_Intron|RDH10_uc003xzi.2_5'Flank	NM_000971	NP_000962	P18124	RL7_HUMAN	ribosomal protein L7	4					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome|transcription regulator activity				0	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)											0.3	23.962499	25.035136	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74205838	74205838	14078	8	C	A	A	A	221	17	RPL7	2	2
ZFHX4	79776	broad.mit.edu	37	8	77617836	77617836	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77617836C>A	uc003yav.2	+	c.1513C>A	c.(1513-1515)CAA>AAA	p.Q505K	ZFHX4_uc003yat.1_Missense_Mutation_p.Q505K|ZFHX4_uc003yau.1_Missense_Mutation_p.Q505K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q505K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	505					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.28	36.626042	38.803685	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77617836	77617836	18223	8	C	A	A	A	273	21	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77763844	77763844	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77763844G>A	uc003yav.2	+	c.4552G>A	c.(4552-4554)GTT>ATT	p.V1518I	ZFHX4_uc003yau.1_Missense_Mutation_p.V1563I|ZFHX4_uc003yaw.1_Missense_Mutation_p.V1518I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1518	C2H2-type 12.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.053763	-18.594707	20.473141	10	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77763844	77763844	18223	8	G	A	A	A	468	36	ZFHX4	2	2
ZFAND1	79752	broad.mit.edu	37	8	82626241	82626241	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82626241C>A	uc003ycj.1	-	c.392G>T	c.(391-393)TGG>TTG	p.W131L	ZFAND1_uc010lzx.1_Missense_Mutation_p.W131L|ZFAND1_uc003yck.1_Missense_Mutation_p.W24L	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	131							zinc ion binding			ovary(1)	1														0.053571	-18.77785	16.592359	9	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82626241	82626241	18214	8	C	A	A	A	273	21	ZFAND1	2	2
MMP16	4325	broad.mit.edu	37	8	89209477	89209477	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89209477C>T	uc003yeb.3	-	c.191G>A	c.(190-192)CGC>CAC	p.R64H	MMP16_uc003yec.2_Missense_Mutation_p.R64H	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	64					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.070312	-7.742276	16.509302	9	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89209477	89209477	10045	8	C	T	T	T	351	27	MMP16	1	1
SLC26A7	115111	broad.mit.edu	37	8	92261991	92261991	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92261991G>T	uc003yez.2	+	c.112G>T	c.(112-114)GCA>TCA	p.A38S	SLC26A7_uc003yex.2_Missense_Mutation_p.A38S|SLC26A7_uc003yey.2_Non-coding_Transcript|SLC26A7_uc003yfa.2_Missense_Mutation_p.A38S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform b	38	Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)											0.037736	-35.220753	13.74955	8	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92261991	92261991	15019	8	G	T	T	T	546	42	SLC26A7	2	2
CDH17	1015	broad.mit.edu	37	8	95186170	95186170	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95186170A>T	uc003ygh.2	-	c.638T>A	c.(637-639)GTG>GAG	p.V213E	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.V213E	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	213	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.055556	-9.833411	12.60652	6	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95186170	95186170	3231	8	A	T	T	T	78	6	CDH17	3	3
KIAA1429	25962	broad.mit.edu	37	8	95502247	95502247	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95502247C>T	uc003ygo.1	-	c.5204G>A	c.(5203-5205)GGA>GAA	p.G1735E	KIAA1429_uc010maz.1_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1735					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)											0.039326	-27.30166	13.437244	7	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95502247	95502247	8540	8	C	T	T	T	390	30	KIAA1429	2	2
TSPYL5	85453	broad.mit.edu	37	8	98289596	98289596	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:98289596C>T	uc003yhy.2	-	c.477G>A	c.(475-477)GGG>GGA	p.G159G		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	159					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)													0.094406	3.047921	50.460876	27	259	KEEP	---	---	---	---	capture		Silent	SNP	98289596	98289596	17215	8	C	T	T	T	327	26	TSPYL5	2	2
ERP44	23071	broad.mit.edu	37	9	102814756	102814756	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:102814756C>A	uc004bam.2	-	c.229G>T	c.(229-231)GAA>TAA	p.E77*	ERP44_uc010msy.2_Non-coding_Transcript|ERP44_uc010msz.2_Nonsense_Mutation_p.E77*	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	thioredoxin domain containing 4 (endoplasmic	77	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity				0														0.113208	19.655899	50.957944	24	188	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102814756	102814756	5436	9	C	A	A	A	390	30	ERP44	5	2
ZNF462	58499	broad.mit.edu	37	9	109692895	109692895	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:109692895G>T	uc004bcz.2	+	c.5937G>T	c.(5935-5937)ACG>ACT	p.T1979T	ZNF462_uc010mto.2_Silent_p.T1827T|ZNF462_uc004bda.2_Silent_p.T1827T|ZNF462_uc011lvz.1_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1979	C2H2-type 18; degenerate.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.060241	-5.282997	11.485399	5	78	KEEP	---	---	---	---	capture		Silent	SNP	109692895	109692895	18519	9	G	T	T	T	483	38	ZNF462	1	1
ZNF462	58499	broad.mit.edu	37	9	109771835	109771835	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:109771835G>T	uc004bcz.2	+	c.7199G>T	c.(7198-7200)AGA>ATA	p.R2400I	ZNF462_uc010mto.2_Missense_Mutation_p.R2309I|ZNF462_uc004bda.2_Missense_Mutation_p.R2308I|ZNF462_uc011lvz.1_Missense_Mutation_p.R357I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2400					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.071429	-4.87931	8.382073	5	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109771835	109771835	18519	9	G	T	T	T	429	33	ZNF462	2	2
TNC	3371	broad.mit.edu	37	9	117800547	117800547	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117800547G>T	uc004bjj.3	-	c.5505C>A	c.(5503-5505)GGC>GGA	p.G1835G	TNC_uc010mvf.2_Silent_p.G1562G	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1835	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.184	100.439118	123.836246	46	204	KEEP	---	---	---	---	capture		Silent	SNP	117800547	117800547	16811	9	G	T	T	T	483	38	TNC	1	1
ASTN2	23245	broad.mit.edu	37	9	119737578	119737578	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119737578T>A	uc004bjs.1	-	c.1798A>T	c.(1798-1800)AGC>TGC	p.S600C	ASTN2_uc004bjr.1_Missense_Mutation_p.S596C|ASTN2_uc004bjt.1_Missense_Mutation_p.S549C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	600	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.164948	56.592374	77.255464	32	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119737578	119737578	1084	9	T	A	A	A	728	56	ASTN2	3	3
ASTN2	23245	broad.mit.edu	37	9	119976836	119976837	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119976836_119976837CC>AA	uc004bjs.1	-	c.815_816GG>TT	c.(814-816)CGG>CTT	p.R272L	ASTN2_uc004bjr.1_Missense_Mutation_p.R272L|ASTN2_uc004bjt.1_Missense_Mutation_p.R272L	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	272	Cytoplasmic (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.042553	-19.726798	11.898072	6	135	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	119976836	119976837	1084	9	CC	AA	AA	AA	327	26	ASTN2	2	2
TLR4	7099	broad.mit.edu	37	9	120466790	120466790	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120466790G>T	uc004bjz.2	+	c.40G>T	c.(40-42)GCC>TCC	p.A14S	TLR4_uc004bka.2_5'UTR|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	14					activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.169231	36.381978	49.85405	22	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120466790	120466790	16483	9	G	T	T	T	442	34	TLR4	2	2
OR1L4	254973	broad.mit.edu	37	9	125487003	125487003	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125487003C>G	uc004bmu.1	+	c.735C>G	c.(733-735)CAC>CAG	p.H245Q		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.080214	3.018307	36.659646	15	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125487003	125487003	11371	9	C	G	G	G	233	18	OR1L4	3	3
NUP188	23511	broad.mit.edu	37	9	131760828	131760828	+	Silent	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131760828A>T	uc004bws.1	+	c.3441A>T	c.(3439-3441)CCA>CCT	p.P1147P	NUP188_uc004bwu.2_Silent_p.P490P	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1147					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|kidney(1)|breast(1)	6														0.186667	30.219485	37.109486	14	61	KEEP	---	---	---	---	capture		Silent	SNP	131760828	131760828	11163	9	A	T	T	T	80	7	NUP188	3	3
USP20	10868	broad.mit.edu	37	9	132637849	132637849	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:132637849C>T	uc004bys.2	+	c.2229C>T	c.(2227-2229)CCC>CCT	p.P743P	USP20_uc004byr.2_Silent_p.P743P|USP20_uc004byt.1_Silent_p.P743P	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	743	DUSP 1.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding				0		Ovarian(14;0.00556)												0.078125	-0.749978	10.872249	5	59	KEEP	---	---	---	---	capture		Silent	SNP	132637849	132637849	17615	9	C	T	T	T	275	22	USP20	2	2
VAV2	7410	broad.mit.edu	37	9	136653575	136653575	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136653575G>A	uc004ces.2	-	c.1308C>T	c.(1306-1308)GTC>GTT	p.V436V	VAV2_uc004cer.2_Silent_p.V431V|VAV2_uc004cet.1_5'UTR	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	436	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)	7				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)										0.133333	5.078282	8.995003	4	26	KEEP	---	---	---	---	capture		Silent	SNP	136653575	136653575	17697	9	G	A	A	A	418	33	VAV2	2	2
COBRA1	25920	broad.mit.edu	37	9	140150783	140150783	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140150783A>G	uc004cmm.3	+	c.269A>G	c.(268-270)TAC>TGC	p.Y90C		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	90					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)										0.128205	9.950134	15.200513	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140150783	140150783	3793	9	A	G	G	G	182	14	COBRA1	4	4
FREM1	158326	broad.mit.edu	37	9	14748557	14748557	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14748557C>T	uc003zlm.2	-	c.5638G>A	c.(5638-5640)GGG>AGG	p.G1880R	FREM1_uc010mic.2_Non-coding_Transcript|FREM1_uc003zlk.2_Intron|FREM1_uc003zll.2_Missense_Mutation_p.G416R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1880					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.038817	-79.709688	44.574054	21	520	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14748557	14748557	6291	9	C	T	T	T	312	24	FREM1	2	2
RFX3	5991	broad.mit.edu	37	9	3248068	3248068	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:3248068C>T	uc003zhr.2	-	c.1932G>A	c.(1930-1932)CAG>CAA	p.Q644Q	RFX3_uc010mhd.2_Silent_p.Q644Q|RFX3_uc003zhs.1_Silent_p.Q644Q	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	644					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin|transcription factor complex	promoter binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription activator activity|transcription repressor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)										0.042553	-33.459326	19.342024	10	225	KEEP	---	---	---	---	capture		Silent	SNP	3248068	3248068	13736	9	C	T	T	T	311	24	RFX3	2	2
NUDT2	318	broad.mit.edu	37	9	34343307	34343307	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34343307A>T	uc003zub.2	+	c.313A>T	c.(313-315)ATC>TTC	p.I105F	NUDT2_uc003zuc.2_Missense_Mutation_p.I105F|NUDT2_uc003zud.2_Missense_Mutation_p.I105F	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	105	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		Melanoma(95;1683 1957 4276 39813)								0.469388	140.546562	140.625581	46	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34343307	34343307	11142	9	A	T	T	T	156	12	NUDT2	3	3
ARID3C	138715	broad.mit.edu	37	9	34621496	34621496	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34621496G>T	uc011lon.1	-	c.1198C>A	c.(1198-1200)CCC>ACC	p.P400T	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	400	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)										0.078431	-0.749671	8.439107	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34621496	34621496	933	9	G	T	T	T	572	44	ARID3C	2	2
UNC13B	10497	broad.mit.edu	37	9	35403482	35403482	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35403482G>T	uc003zwr.2	+	c.4433G>T	c.(4432-4434)CGG>CTG	p.R1478L	UNC13B_uc003zwq.2_Missense_Mutation_p.R1459L	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1459	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)	4	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)											0.078571	-1.465565	24.032677	11	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35403482	35403482	17543	9	G	T	T	T	507	39	UNC13B	1	1
KANK1	23189	broad.mit.edu	37	9	712598	712598	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:712598A>G	uc003zgl.1	+	c.1832A>G	c.(1831-1833)AAC>AGC	p.N611S	KANK1_uc003zgm.2_Missense_Mutation_p.N611S|KANK1_uc003zgn.1_Missense_Mutation_p.N611S|KANK1_uc003zgo.1_Missense_Mutation_p.N611S|KANK1_uc003zgp.1_Missense_Mutation_p.N611S|KANK1_uc003zgq.2_Missense_Mutation_p.N453S|KANK1_uc003zgr.1_Missense_Mutation_p.N453S|KANK1_uc003zgs.1_Missense_Mutation_p.N453S	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	611					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)										0.11	14.95799	30.003169	11	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	712598	712598	8280	9	A	G	G	G	26	2	KANK1	4	4
OSTF1	26578	broad.mit.edu	37	9	77732461	77732461	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77732461A>T	uc004ajx.3	+	c.85A>T	c.(85-87)AGA>TGA	p.R29*	OSTF1_uc004ajv.3_Nonsense_Mutation_p.R26*|OSTF1_uc004ajw.3_Intron	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	26	SH3.				ossification|signal transduction	cytoplasm	identical protein binding				0														0.072464	-0.758997	12.199779	5	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77732461	77732461	11709	9	A	T	T	T	88	7	OSTF1	5	3
VPS13A	23230	broad.mit.edu	37	9	79954579	79954579	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79954579C>G	uc004akr.2	+	c.6526C>G	c.(6526-6528)CAA>GAA	p.Q2176E	VPS13A_uc004akp.3_Missense_Mutation_p.Q2176E|VPS13A_uc004akq.3_Missense_Mutation_p.Q2176E|VPS13A_uc004aks.2_Missense_Mutation_p.Q2137E	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2176					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.099291	13.937789	36.579096	14	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79954579	79954579	17756	9	C	G	G	G	325	25	VPS13A	3	3
ARMCX2	9823	broad.mit.edu	37	X	100911627	100911627	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100911627C>A	uc004eid.2	-	c.948G>T	c.(946-948)GGG>GGT	p.G316G	ARMCX2_uc004eie.3_Silent_p.G316G|ARMCX2_uc004eif.3_Silent_p.G316G|ARMCX2_uc004eig.3_Silent_p.G316G|ARMCX2_uc010nnt.2_Silent_p.G316G	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	316						integral to membrane	binding			ovary(6)	6														0.177419	19.986521	26.065311	11	51	KEEP	---	---	---	---	capture		Silent	SNP	100911627	100911627	978	23	C	A	A	A	275	22	ARMCX2	2	2
WBP5	51186	broad.mit.edu	37	X	102612793	102612793	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102612793C>A	uc004ekd.2	+	c.181C>A	c.(181-183)CAC>AAC	p.H61N	WBP5_uc004eke.2_Missense_Mutation_p.H61N|WBP5_uc004ekf.2_Missense_Mutation_p.H61N|WBP5_uc004ekg.2_Missense_Mutation_p.H61N	NM_001006612	NP_001006613	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	61	Glu-rich.										0														0.084821	6.542826	45.726328	19	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102612793	102612793	17834	23	C	A	A	A	221	17	WBP5	2	2
TBC1D8B	54885	broad.mit.edu	37	X	106108791	106108791	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106108791G>T	uc004emo.2	+	c.2355G>T	c.(2353-2355)TTG>TTT	p.L785F	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	785						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)	3														0.084746	1.125319	11.452546	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106108791	106108791	16152	23	G	T	T	T	594	46	TBC1D8B	2	2
RGAG1	57529	broad.mit.edu	37	X	109694148	109694148	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109694148C>A	uc004eor.1	+	c.303C>A	c.(301-303)TCC>TCA	p.S101S	RGAG1_uc011msr.1_Silent_p.S101S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	101										lung(2)|ovary(1)	3														0.08545	-6.385744	69.184517	37	396	KEEP	---	---	---	---	capture		Silent	SNP	109694148	109694148	13747	23	C	A	A	A	275	22	RGAG1	2	2
LHFPL1	340596	broad.mit.edu	37	X	111914406	111914406	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111914406G>T	uc004epp.2	-	c.282C>A	c.(280-282)GCC>GCA	p.A94A	LHFPL1_uc004epq.2_Silent_p.A71A|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Silent_p.A71A	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	71						integral to membrane					0														0.101351	10.250604	33.688185	15	133	KEEP	---	---	---	---	capture		Silent	SNP	111914406	111914406	9090	23	G	T	T	T	600	47	LHFPL1	2	2
ARHGAP6	395	broad.mit.edu	37	X	11196310	11196310	+	Silent	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11196310G>C	uc004cup.1	-	c.1539C>G	c.(1537-1539)CCC>CCG	p.P513P	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.P513P|ARHGAP6_uc004cum.1_Silent_p.P310P|ARHGAP6_uc004cun.1_Silent_p.P333P|ARHGAP6_uc010neb.1_Silent_p.P335P|ARHGAP6_uc011mif.1_Silent_p.P310P	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	513	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2														0.107143	5.370691	13.893113	6	50	KEEP	---	---	---	---	capture		Silent	SNP	11196310	11196310	901	23	G	C	C	C	444	35	ARHGAP6	3	3
LUZP4	51213	broad.mit.edu	37	X	114541017	114541017	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114541017C>T	uc004eqa.2	+	c.590C>T	c.(589-591)TCT>TTT	p.S197F	LUZP4_uc004eqb.2_Missense_Mutation_p.S115F	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	197						nucleus				ovary(2)	2														0.10084	11.304594	30.233753	12	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114541017	114541017	9464	23	C	T	T	T	416	32	LUZP4	2	2
STAG2	10735	broad.mit.edu	37	X	123217307	123217307	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123217307G>A	uc004eua.2	+	c.2961G>A	c.(2959-2961)CCG>CCA	p.P987P	STAG2_uc004etz.3_Silent_p.P987P|STAG2_uc004eub.2_Silent_p.P987P|STAG2_uc004euc.2_Silent_p.P987P|STAG2_uc004eud.2_Silent_p.P987P|STAG2_uc004eue.2_Silent_p.P987P	NM_001042749	NP_001036214	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform a	987					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5														0.1	2.106346	6.898184	3	27	KEEP	---	---	---	---	capture		Silent	SNP	123217307	123217307	15761	23	G	A	A	A	483	38	STAG2	1	1
ARHGAP36	158763	broad.mit.edu	37	X	130215894	130215894	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130215894T>A	uc004evz.2	+	c.253_splice	c.e2+2	p.A85_splice	ARHGAP36_uc004ewa.2_Splice_Site_SNP_p.A73_splice|ARHGAP36_uc004ewb.2_Splice_Site_SNP_p.A54_splice|ARHGAP36_uc004ewc.2_5'Flank	NM_144967	NP_659404			hypothetical protein LOC158763 precursor						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.135135	21.274991	35.577383	15	96	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	130215894	130215894	895	23	T	A	A	A	741	57	ARHGAP36	5	3
FHL1	2273	broad.mit.edu	37	X	135290120	135290120	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135290120G>A	uc004ezo.2	+	c.501G>A	c.(499-501)AAG>AAA	p.K167K	FHL1_uc010nrz.2_Silent_p.K167K|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_Silent_p.K167K|FHL1_uc004ezq.2_Silent_p.K167K|FHL1_uc011mvy.1_Silent_p.K167K|FHL1_uc011mvz.1_Silent_p.K167K|FHL1_uc004ezn.2_Silent_p.K167K|FHL1_uc011mwa.1_Silent_p.K196K|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Silent_p.K183K|FHL1_uc004ezr.2_5'UTR	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	167	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.096774	7.74526	22.861195	9	84	KEEP	---	---	---	---	capture		Silent	SNP	135290120	135290120	6116	23	G	A	A	A	451	35	FHL1	2	2
MAGEC1	9947	broad.mit.edu	37	X	140995949	140995949	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140995949T>C	uc004fbt.2	+	c.2759T>C	c.(2758-2760)CTC>CCC	p.L920P	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	920	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.217712	146.898971	166.766608	59	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140995949	140995949	9561	23	T	C	C	C	702	54	MAGEC1	4	4
FMR1NB	158521	broad.mit.edu	37	X	147062975	147062975	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:147062975C>A	uc004fcm.2	+	c.53C>A	c.(52-54)GCC>GAC	p.A18D		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	18	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.110092	10.323439	26.722075	12	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147062975	147062975	6203	23	C	A	A	A	338	26	FMR1NB	2	2
FANCB	2187	broad.mit.edu	37	X	14871184	14871184	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14871184C>A	uc004cwg.1	-	c.1303G>T	c.(1303-1305)GAT>TAT	p.D435Y	FANCB_uc004cwh.1_Missense_Mutation_p.D435Y	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	435					DNA repair	nucleoplasm					0	Hepatocellular(33;0.183)									92				0.14	21.578051	34.097168	14	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14871184	14871184	5899	23	C	A	A	A	377	29	FANCB	2	2
MAGEA11	4110	broad.mit.edu	37	X	148796183	148796183	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148796183A>G	uc004fdq.2	+	c.139A>G	c.(139-141)AGA>GGA	p.R47G	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.R18G	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	47						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.093023	3.666901	10.830396	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148796183	148796183	9542	23	A	G	G	G	36	3	MAGEA11	4	4
MAMLD1	10046	broad.mit.edu	37	X	149638912	149638912	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149638912C>A	uc004fee.1	+	c.1067C>A	c.(1066-1068)CCA>CAA	p.P356Q	MAMLD1_uc011mxt.1_Missense_Mutation_p.P318Q|MAMLD1_uc011mxu.1_Missense_Mutation_p.P331Q|MAMLD1_uc011mxv.1_Missense_Mutation_p.P331Q|MAMLD1_uc011mxw.1_Missense_Mutation_p.P283Q	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	356	Poly-Pro.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)													0.117647	9.219481	18.935789	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149638912	149638912	9591	23	C	A	A	A	273	21	MAMLD1	2	2
MAMLD1	10046	broad.mit.edu	37	X	149639109	149639109	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149639109G>T	uc004fee.1	+	c.1264G>T	c.(1264-1266)GGC>TGC	p.G422C	MAMLD1_uc011mxt.1_Missense_Mutation_p.G384C|MAMLD1_uc011mxu.1_Missense_Mutation_p.G397C|MAMLD1_uc011mxv.1_Missense_Mutation_p.G397C|MAMLD1_uc011mxw.1_Missense_Mutation_p.G349C	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	422					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)													0.080925	0.357937	31.290908	14	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149639109	149639109	9591	23	G	T	T	T	507	39	MAMLD1	1	1
VMA21	203547	broad.mit.edu	37	X	150573464	150573464	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150573464G>T	uc004feu.2	+	c.240G>T	c.(238-240)CTG>CTT	p.L80L		NM_001017980	NP_001017980	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog	80	Helical; (Potential).				vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome					0														0.105263	7.233908	21.90592	10	85	KEEP	---	---	---	---	capture		Silent	SNP	150573464	150573464	17742	23	G	T	T	T	600	47	VMA21	2	2
SCML2	10389	broad.mit.edu	37	X	18278384	18278384	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18278384T>C	uc004cyl.2	-	c.976A>G	c.(976-978)ACA>GCA	p.T326A	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.T326A|SCML2_uc011miz.1_Missense_Mutation_p.T260A|SCML2_uc010nfc.2_Missense_Mutation_p.T62A	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	326					anatomical structure morphogenesis|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					Esophageal Squamous(100;1252 1965 19021 35517)								0.067797	-0.043204	11.357796	4	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18278384	18278384	14392	23	T	C	C	C	741	57	SCML2	4	4
CDKL5	6792	broad.mit.edu	37	X	18622562	18622562	+	Silent	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18622562C>A	uc004cym.2	+	c.1518C>A	c.(1516-1518)GCC>GCA	p.A506A	CDKL5_uc004cyn.2_Silent_p.A506A	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	506					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Hepatocellular(33;0.183)									244				0.272109	202.773212	216.538358	80	214	KEEP	---	---	---	---	capture		Silent	SNP	18622562	18622562	3286	23	C	A	A	A	275	22	CDKL5	2	2
CNKSR2	22866	broad.mit.edu	37	X	21488899	21488899	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21488899G>A	uc004czx.1	+	c.535G>A	c.(535-537)GAA>AAA	p.E179K	CNKSR2_uc004czw.2_Missense_Mutation_p.E179K|CNKSR2_uc011mjn.1_Missense_Mutation_p.E179K|CNKSR2_uc011mjo.1_Missense_Mutation_p.E179K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	179					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)	1														0.190476	24.057678	29.706	12	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21488899	21488899	3745	23	G	A	A	A	585	45	CNKSR2	2	2
POLA1	5422	broad.mit.edu	37	X	24859838	24859838	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24859838G>A	uc004dbl.2	+	c.3788G>A	c.(3787-3789)GGC>GAC	p.G1263D		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	1263	Potential.				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)									0.350877	56.494094	57.607128	20	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24859838	24859838	12615	23	G	A	A	A	546	42	POLA1	2	2
ARSF	416	broad.mit.edu	37	X	3002385	3002385	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3002385G>C	uc004cre.1	+	c.508G>C	c.(508-510)GTT>CTT	p.V170L	ARSF_uc004crf.1_Missense_Mutation_p.V170L	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	170						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.375	42.195783	42.633369	12	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3002385	3002385	1009	23	G	C	C	C	520	40	ARSF	3	3
FAM47A	158724	broad.mit.edu	37	X	34148840	34148840	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34148840G>T	uc004ddg.2	-	c.1556C>A	c.(1555-1557)TCG>TAG	p.S519*		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	519										ovary(4)|central_nervous_system(1)	5														0.074627	-2.114607	10.275212	5	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34148840	34148840	5790	23	G	T	T	T	481	37	FAM47A	5	1
FAM47A	158724	broad.mit.edu	37	X	34150081	34150081	+	Silent	SNP	G	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34150081G>A	uc004ddg.2	-	c.315C>T	c.(313-315)TCC>TCT	p.S105S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	105										ovary(4)|central_nervous_system(1)	5														0.070588	-4.012792	28.297912	12	158	KEEP	---	---	---	---	capture		Silent	SNP	34150081	34150081	5790	23	G	A	A	A	600	47	FAM47A	2	2
CXorf59	286464	broad.mit.edu	37	X	36156083	36156083	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:36156083C>G	uc004ddk.1	+	c.1054C>G	c.(1054-1056)CCT>GCT	p.P352A		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	352						integral to membrane				central_nervous_system(1)	1														0.088235	0.706466	12.357142	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36156083	36156083	4279	23	C	G	G	G	286	22	CXorf59	3	3
FAM47C	442444	broad.mit.edu	37	X	37028542	37028542	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37028542G>T	uc004ddl.1	+	c.2059G>T	c.(2059-2061)GTA>TTA	p.V687L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	687										ovary(3)	3														0.106383	4.711378	11.881126	5	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37028542	37028542	5792	23	G	T	T	T	520	40	FAM47C	1	1
FAM47C	442444	broad.mit.edu	37	X	37029164	37029164	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37029164C>A	uc004ddl.1	+	c.2681C>A	c.(2680-2682)TCC>TAC	p.S894Y		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	894										ovary(3)	3														0.084034	0.155412	21.070298	10	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37029164	37029164	5792	23	C	A	A	A	390	30	FAM47C	2	2
XK	7504	broad.mit.edu	37	X	37587592	37587592	+	Silent	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37587592C>T	uc004ddq.2	+	c.1212C>T	c.(1210-1212)CCC>CCT	p.P404P		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	404	Cytoplasmic (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)												0.085271	0.000366	22.613254	11	118	KEEP	---	---	---	---	capture		Silent	SNP	37587592	37587592	18012	23	C	T	T	T	301	24	XK	2	2
USP9X	8239	broad.mit.edu	37	X	41055569	41055569	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41055569G>T	uc004dfb.2	+	c.4043G>T	c.(4042-4044)CGG>CTG	p.R1348L	USP9X_uc004dfc.2_Missense_Mutation_p.R1348L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1348					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.043716	-25.728308	15.073954	8	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41055569	41055569	17654	23	G	T	T	T	507	39	USP9X	1	1
GSPT2	23708	broad.mit.edu	37	X	51488070	51488070	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:51488070C>G	uc004dpl.2	+	c.1348C>G	c.(1348-1350)CTG>GTG	p.L450V		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	450					cell cycle|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)													0.097561	2.56657	9.218984	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51488070	51488070	7107	23	C	G	G	G	363	28	GSPT2	3	3
KDM5C	8242	broad.mit.edu	37	X	53230827	53230827	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53230827C>T	uc004drz.2	-	c.1966G>A	c.(1966-1968)GAG>AAG	p.E656K	KDM5C_uc011moc.1_Non-coding_Transcript|KDM5C_uc011mod.1_Missense_Mutation_p.E589K|KDM5C_uc004dsa.2_Missense_Mutation_p.E655K	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	656					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18														0.253165	50.459575	54.831974	20	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53230827	53230827	8441	23	C	T	T	T	416	32	KDM5C	2	2
ZC4H2	55906	broad.mit.edu	37	X	64140031	64140031	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:64140031C>A	uc004dvu.2	-	c.328G>T	c.(328-330)GCC>TCC	p.A110S	ZC4H2_uc004dvv.2_Missense_Mutation_p.A87S|ZC4H2_uc011mov.1_Missense_Mutation_p.A87S|ZC4H2_uc011mow.1_Missense_Mutation_p.A110S|ZC4H2_uc004dvw.1_Missense_Mutation_p.A110S	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	110							metal ion binding|protein binding			ovary(1)	1														0.100671	8.619746	32.344484	15	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64140031	64140031	18166	23	C	A	A	A	325	25	ZC4H2	2	2
ZCCHC5	203430	broad.mit.edu	37	X	77913901	77913901	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77913901G>T	uc004edc.1	-	c.17C>A	c.(16-18)GCA>GAA	p.A6E		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	6							nucleic acid binding|zinc ion binding			ovary(1)	1														0.147059	8.257377	12.322339	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77913901	77913901	18179	23	G	T	T	T	598	46	ZCCHC5	2	2
ZNF711	7552	broad.mit.edu	37	X	84526752	84526752	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84526752G>T	uc004eeq.2	+	c.2342G>T	c.(2341-2343)TGT>TTT	p.C781F	ZNF711_uc004eeo.2_Missense_Mutation_p.C735F|ZNF711_uc004eep.2_Missense_Mutation_p.C735F|ZNF711_uc011mqy.1_Missense_Mutation_p.C334F	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	735	C2H2-type 12.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.041322	-15.93317	11.444467	5	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84526752	84526752	18712	23	G	T	T	T	624	48	ZNF711	2	2
DACH2	117154	broad.mit.edu	37	X	85769355	85769355	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:85769355G>T	uc004eew.2	+	c.601G>T	c.(601-603)GTC>TTC	p.V201F	DACH2_uc004eex.2_Missense_Mutation_p.V188F|DACH2_uc010nmq.2_Missense_Mutation_p.V67F|DACH2_uc011mra.1_Missense_Mutation_p.V34F|DACH2_uc010nmr.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5														0.081633	-0.232911	8.49618	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85769355	85769355	4387	23	G	T	T	T	468	36	DACH2	2	2
TGIF2LX	90316	broad.mit.edu	37	X	89177555	89177555	+	Silent	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177555G>T	uc004efe.2	+	c.471G>T	c.(469-471)CTG>CTT	p.L157L		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	157					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.172414	8.054024	10.999385	5	24	KEEP	---	---	---	---	capture		Silent	SNP	89177555	89177555	16355	23	G	T	T	T	587	46	TGIF2LX	2	2
PCDH11Y	83259	broad.mit.edu	37	Y	4968734	4968734	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:4968734G>T	uc004fqo.2	+	c.3115G>T	c.(3115-3117)GTA>TTA	p.V1039L	PCDH11Y_uc010nwg.1_Missense_Mutation_p.V1028L|PCDH11Y_uc004fql.1_Missense_Mutation_p.V1028L|PCDH11Y_uc004fqm.1_Missense_Mutation_p.V1028L|PCDH11Y_uc004fqn.1_Missense_Mutation_p.V1039L|PCDH11Y_uc004fqp.1_Missense_Mutation_p.V810L	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	1039	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.097561	7.439948	20.735171	8	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4968734	4968734	11929	24	G	T	T	T	520	40	PCDH11Y	1	1
STX5	6811	broad.mit.edu	37	11	62598584	62598585	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62598584_62598585insG	uc001nvh.2	-	c.131_132insC	c.(130-132)CCAfs	p.P44fs	STX5_uc010rmi.1_Intron|STX5_uc009yoh.2_Non-coding_Transcript|STX5_uc001nvi.2_Splice_Site_Ins|STX5_uc010rmj.1_Frame_Shift_Ins_p.P44fs|STX5_uc001nvj.2_5'UTR	NM_003164	NP_003155	Q13190	STX5_HUMAN	syntaxin 5	44	Cytoplasmic (Potential).				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			ovary(1)|breast(1)	2														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	62598584	62598585	15868	11	-	G	G	G	704	55	STX5	5	5
C19orf26	255057	broad.mit.edu	37	19	1231033	1231034	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1231033_1231034insG	uc002lrm.2	-	c.1202_1203insC	c.(1201-1203)CCTfs	p.P401fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	437						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.35			6	11		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	1231033	1231034	1979	19	-	G	G	G	184	15	C19orf26	5	5
CHD1L	9557	broad.mit.edu	37	1	146714468	146714469	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z055-01	TCGA-17-Z055-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:146714468_146714469insG	uc001epm.3	+	c.115_116insG	c.(115-117)TGGfs	p.W39fs	CHD1L_uc001epn.3_5'UTR|CHD1L_uc010ozo.1_Non-coding_Transcript|CHD1L_uc009wjg.2_Non-coding_Transcript|CHD1L_uc009wjh.2_Frame_Shift_Ins_p.W39fs|CHD1L_uc010ozp.1_5'UTR|CHD1L_uc001epo.3_Frame_Shift_Ins_p.W39fs	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	39					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)	5	all_hematologic(923;0.0487)													0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	146714468	146714469	3458	1	-	G	G	G	767	59	CHD1L	5	5
