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
CALHM1	255022	broad.mit.edu	37	10	105215148	105215148	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105215148C>A	uc001kxe.2	-	c.912G>T	c.(910-912)ACG>ACT	p.T304T	CALHM2_uc001kxa.2_5'Flank|CALHM2_uc001kxc.2_5'Flank|CALHM2_uc001kxb.2_5'Flank|CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	304						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1														0.857143	20.320071	21.115772	6	1	KEEP	---	---	---	---	capture		Silent	SNP	105215148	105215148	2698	10	C	A	A	A	392	31	CALHM1	1	1
NRAP	4892	broad.mit.edu	37	10	115364594	115364594	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115364594C>A	uc001lal.3	-	c.4001G>T	c.(4000-4002)TGC>TTC	p.C1334F	NRAP_uc009xyb.2_Missense_Mutation_p.C123F|NRAP_uc001laj.2_Missense_Mutation_p.C1334F|NRAP_uc001lak.2_Missense_Mutation_p.C1299F	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1334	Nebulin 35.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.293103	41.030452	43.268249	17	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115364594	115364594	11043	10	C	A	A	A	325	25	NRAP	2	2
DCLRE1A	9937	broad.mit.edu	37	10	115609684	115609684	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115609684T>A	uc001law.2	-	c.1180A>T	c.(1180-1182)AGT>TGT	p.S394C		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	394					cell division|mitosis	nucleus	hydrolase activity			skin(1)	1				Epithelial(162;0.0157)|all cancers(201;0.0171)										0.166667	12.499007	16.924579	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115609684	115609684	4465	10	T	A	A	A	702	54	DCLRE1A	3	3
MKI67	4288	broad.mit.edu	37	10	129903161	129903163	+	Missense	Complex_substitution	CNT	ANC	ANC			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129903161C>A	uc001lke.2	-	c.6943G>T	c.(6943-6945)GAC>TAC	p.D2315Y	MKI67_uc001lkf.2_Missense_Mutation_p.D1955Y|MKI67_uc009yav.1_Missense_Mutation_p.D1890Y|MKI67_uc009yaw.1_Missense_Mutation_p.D1465Y	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2315	16 X 122 AA approximate repeats.|11.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.228261	91.145317	103.619919	42	142	KEEP	---	---	---	---	capture		Missense	Complex_substitution	129903161	129903163	9988	10	CNT	ANC	ANC	A	416	32	MKI67	5	5
SLC39A12	221074	broad.mit.edu	37	10	18284617	18284617	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18284617G>C	uc001ipo.2	+	c.1566G>C	c.(1564-1566)ATG>ATC	p.M522I	SLC39A12_uc001ipn.2_Missense_Mutation_p.M485I|SLC39A12_uc001ipp.2_Missense_Mutation_p.M521I|SLC39A12_uc010qck.1_Missense_Mutation_p.M388I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	522	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.294118	55.390838	57.960828	20	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18284617	18284617	15112	10	G	C	C	C	598	46	SLC39A12	3	3
PLXDC2	84898	broad.mit.edu	37	10	20534306	20534306	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:20534306G>A	uc001iqg.1	+	c.1345G>A	c.(1345-1347)GGG>AGG	p.G449R	PLXDC2_uc001iqh.1_Missense_Mutation_p.G400R|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	449	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.117647	11.602926	23.808619	10	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20534306	20534306	12544	10	G	A	A	A	455	35	PLXDC2	2	2
MYO3A	53904	broad.mit.edu	37	10	26305791	26305791	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26305791C>T	uc001isn.2	+	c.551C>T	c.(550-552)ACA>ATA	p.T184I	MYO3A_uc009xko.1_Missense_Mutation_p.T184I|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.T184I|MYO3A_uc001ism.2_Missense_Mutation_p.T184I	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	184	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.122449	12.848845	26.513065	12	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26305791	26305791	10471	10	C	T	T	T	221	17	MYO3A	2	2
MYO3A	53904	broad.mit.edu	37	10	26436439	26436439	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26436439C>T	uc001isn.2	+	c.2586C>T	c.(2584-2586)TCC>TCT	p.S862S	MYO3A_uc009xko.1_Silent_p.S862S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	862	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14									p.S862S(RERFLCAD2-Tumor)|p.S862S(KALS1-Tumor)	781				0.214953	55.274915	63.294414	23	84	KEEP	---	---	---	---	capture		Silent	SNP	26436439	26436439	10471	10	C	T	T	T	288	23	MYO3A	1	1
GAD2	2572	broad.mit.edu	37	10	26508009	26508009	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26508009G>T	uc001isp.2	+	c.324G>T	c.(322-324)TTG>TTT	p.L108F	GAD2_uc009xkr.2_Missense_Mutation_p.L108F|GAD2_uc001isq.2_Missense_Mutation_p.L108F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	108					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)									0.189189	12.9997	16.34799	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26508009	26508009	6431	10	G	T	T	T	607	47	GAD2	2	2
ZEB1	6935	broad.mit.edu	37	10	31815884	31815884	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31815884G>C	uc001ivu.3	+	c.3070G>C	c.(3070-3072)GAC>CAC	p.D1024H	ZEB1_uc001ivr.3_Missense_Mutation_p.D805H|ZEB1_uc010qee.1_Missense_Mutation_p.D805H|ZEB1_uc010qef.1_Missense_Mutation_p.D805H|ZEB1_uc001ivs.3_Missense_Mutation_p.D1023H|ZEB1_uc001ivt.3_Missense_Mutation_p.D805H|ZEB1_uc001ivv.3_Missense_Mutation_p.D1003H|ZEB1_uc010qeh.1_Missense_Mutation_p.D956H|ZEB1_uc009xlp.2_Missense_Mutation_p.D1007H	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1023	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.479167	74.023281	74.041333	23	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31815884	31815884	18211	10	G	C	C	C	533	41	ZEB1	3	3
ZNF248	57209	broad.mit.edu	37	10	38121256	38121256	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:38121256G>C	uc001izd.1	-	c.1027C>G	c.(1027-1029)CAA>GAA	p.Q343E	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.Q343E	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.2625	120.577277	128.740551	42	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38121256	38121256	18384	10	G	C	C	C	585	45	ZNF248	3	3
AGAP4	119016	broad.mit.edu	37	10	46322003	46322003	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:46322003C>A	uc010qfl.1	-	c.1421G>T	c.(1420-1422)CGT>CTT	p.R474L	AGAP4_uc001jcx.3_Missense_Mutation_p.R451L|AGAP4_uc001jcy.3_Missense_Mutation_p.R366L	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	451	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			ovary(1)	1														0.208791	47.486213	54.621959	19	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46322003	46322003	372	10	C	A	A	A	247	19	AGAP4	1	1
CTNNA3	29119	broad.mit.edu	37	10	69281660	69281660	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69281660G>A	uc009xpn.1	-	c.519C>T	c.(517-519)ACC>ACT	p.T173T	CTNNA3_uc001jmw.2_Silent_p.T173T|CTNNA3_uc001jmx.3_Silent_p.T173T|CTNNA3_uc009xpo.1_Silent_p.T33T|CTNNA3_uc001jna.2_Silent_p.T185T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	173					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	5														0.089744	4.164756	17.41456	7	71	KEEP	---	---	---	---	capture		Silent	SNP	69281660	69281660	4173	10	G	A	A	A	444	35	CTNNA3	2	2
TTC18	118491	broad.mit.edu	37	10	75072377	75072377	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75072377G>A	uc009xrc.2	-	c.1147C>T	c.(1147-1149)CGG>TGG	p.R383W	TTC18_uc001jty.2_Missense_Mutation_p.R383W|TTC18_uc009xrd.1_Missense_Mutation_p.R191W	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	383							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)													0.192118	90.818613	108.781248	39	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75072377	75072377	17239	10	G	A	A	A	506	39	TTC18	1	1
MYST4	23522	broad.mit.edu	37	10	76784747	76784747	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:76784747G>A	uc001jwn.1	+	c.3404G>A	c.(3403-3405)CGT>CAT	p.R1135H	MYST4_uc001jwo.1_Missense_Mutation_p.R843H|MYST4_uc001jwp.1_Missense_Mutation_p.R952H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1135					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription activator activity|transcription factor binding|transcription repressor activity|zinc ion binding			central_nervous_system(5)|ovary(3)|breast(1)	9	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)								p.R1135H(HEC1B-Tumor)	319				0.238938	65.581826	72.605343	27	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76784747	76784747	10500	10	G	A	A	A	520	40	MYST4	1	1
DLG5	9231	broad.mit.edu	37	10	79580869	79580869	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79580869G>T	uc001jzk.2	-	c.3373C>A	c.(3373-3375)CCA>ACA	p.P1125T	DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.3_Missense_Mutation_p.P729T	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1125					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)											0.28125	20.456254	21.836385	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79580869	79580869	4738	10	G	T	T	T	533	41	DLG5	2	2
HECTD2	143279	broad.mit.edu	37	10	93260329	93260329	+	Missense_Mutation	SNP	G	C	C	rs111679609		TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93260329G>C	uc010qnm.1	+	c.2033G>C	c.(2032-2034)AGA>ACA	p.R678T	LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.R674T|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Missense_Mutation_p.R263T|HECTD2_uc001khn.1_Missense_Mutation_p.R324T	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	674	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						NSCLC(12;376 469 1699 39910 41417)								0.191011	40.921215	48.86278	17	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93260329	93260329	7323	10	G	C	C	C	429	33	HECTD2	3	3
TNKS2	80351	broad.mit.edu	37	10	93611069	93611069	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93611069G>C	uc001khp.2	+	c.2791G>C	c.(2791-2793)GAG>CAG	p.E931Q		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	931	SAM.				positive regulation of telomere maintenance via telomerase|protein ADP-ribosylation|protein localization to chromosome, telomeric region	Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity			kidney(3)|skin(2)|ovary(1)|lung(1)	7		Colorectal(252;0.162)								718				0.202381	43.729778	50.638644	17	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93611069	93611069	16862	10	G	C	C	C	481	37	TNKS2	3	3
KIF11	3832	broad.mit.edu	37	10	94373192	94373192	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94373192G>T	uc001kic.2	+	c.848G>T	c.(847-849)CGG>CTG	p.R283L	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	283	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding				0						Colon(47;212 1003 2764 4062 8431)								0.117647	8.426538	15.743678	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94373192	94373192	8583	10	G	T	T	T	507	39	KIF11	1	1
MMP7	4316	broad.mit.edu	37	11	102394103	102394103	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102394103C>A	uc001phb.2	-	c.643G>T	c.(643-645)GAA>TAA	p.E215*		NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	215					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)										0.137931	24.117593	38.829473	16	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102394103	102394103	10058	11	C	A	A	A	377	29	MMP7	5	2
MMP27	64066	broad.mit.edu	37	11	102563669	102563669	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102563669C>T	uc001phd.1	-	c.1297G>A	c.(1297-1299)GGA>AGA	p.G433R		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	433	Hemopexin-like 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)										0.273077	193.955927	205.997299	71	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102563669	102563669	10055	11	C	T	T	T	312	24	MMP27	2	2
CASP5	838	broad.mit.edu	37	11	104871220	104871220	+	Silent	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:104871220A>G	uc010ruz.1	-	c.759T>C	c.(757-759)GAT>GAC	p.D253D	CASP5_uc010rva.1_Silent_p.D240D|CASP5_uc010rvb.1_Silent_p.D182D|CASP5_uc010rvc.1_Silent_p.D98D|CASP5_uc009yxh.2_Silent_p.D22D|CASP5_uc010rvd.1_Silent_p.D22D	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	caspase 5 isoform f precursor	240					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)										0.455446	145.914158	146.091053	46	55	KEEP	---	---	---	---	capture		Silent	SNP	104871220	104871220	2793	11	A	G	G	G	206	16	CASP5	4	4
FOXR1	283150	broad.mit.edu	37	11	118849735	118849735	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118849735G>T	uc001pui.2	+	c.205G>T	c.(205-207)GAG>TAG	p.E69*	FOXR1_uc001puj.2_Non-coding_Transcript|FOXR1_uc001puk.2_5'UTR	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	69					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)										0.346774	114.088649	116.658107	43	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118849735	118849735	6277	11	G	T	T	T	533	41	FOXR1	5	2
HYOU1	10525	broad.mit.edu	37	11	118921762	118921762	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118921762C>A	uc001puu.2	-	c.1650G>T	c.(1648-1650)GTG>GTT	p.V550V	HYOU1_uc001put.2_Silent_p.V515V|HYOU1_uc010ryu.1_Silent_p.V570V|HYOU1_uc010ryv.1_Silent_p.V439V|HYOU1_uc001pux.3_Silent_p.V550V|HYOU1_uc010ryw.1_Non-coding_Transcript|HYOU1_uc001puw.1_Silent_p.V550V	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	550						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)										0.173913	7.385596	9.694663	4	19	KEEP	---	---	---	---	capture		Silent	SNP	118921762	118921762	7770	11	C	A	A	A	314	25	HYOU1	2	2
ASAM	79827	broad.mit.edu	37	11	122944291	122944291	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122944291G>T	uc001pyt.2	-	c.1013C>A	c.(1012-1014)CCA>CAA	p.P338Q		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	338	Cytoplasmic (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)										0.119403	9.755003	19.279063	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122944291	122944291	1027	11	G	T	T	T	611	47	ASAM	2	2
OR8B2	26595	broad.mit.edu	37	11	124253105	124253105	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124253105C>A	uc010sai.1	-	c.135G>T	c.(133-135)TTG>TTT	p.L45F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.102041	24.315817	86.219903	40	352	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124253105	124253105	11638	11	C	A	A	A	376	29	OR8B2	2	2
OR8B3	390271	broad.mit.edu	37	11	124267113	124267113	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124267113C>A	uc010saj.1	-	c.135G>T	c.(133-135)TTG>TTT	p.L45F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.339869	146.367955	149.828886	52	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124267113	124267113	11639	11	C	A	A	A	376	29	OR8B3	2	2
DDX25	29118	broad.mit.edu	37	11	125780288	125780288	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125780288G>T	uc001qcz.3	+	c.537G>T	c.(535-537)TTG>TTT	p.L179F	DDX25_uc010sbk.1_Missense_Mutation_p.L179F	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 25	179	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)										0.276316	109.477344	116.32933	42	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125780288	125780288	4523	11	G	T	T	T	607	47	DDX25	2	2
ARHGAP32	9743	broad.mit.edu	37	11	128839073	128839073	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128839073T>C	uc009zcp.2	-	c.5993A>G	c.(5992-5994)GAG>GGG	p.E1998G	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E957G|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1649G	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1998	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														0.25	68.376486	74.30944	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128839073	128839073	893	11	T	C	C	C	702	54	ARHGAP32	4	4
PRDM10	56980	broad.mit.edu	37	11	129801063	129801063	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:129801063G>A	uc001qfm.2	-	c.1378C>T	c.(1378-1380)CCA>TCA	p.P460S	PRDM10_uc001qfj.2_Missense_Mutation_p.P374S|PRDM10_uc001qfk.2_Missense_Mutation_p.P374S|PRDM10_uc001qfl.2_Missense_Mutation_p.P374S|PRDM10_uc010sbx.1_Missense_Mutation_p.P374S|PRDM10_uc001qfn.2_Missense_Mutation_p.P460S|PRDM10_uc009zct.1_Missense_Mutation_p.P492S	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)										0.148352	49.105877	70.707626	27	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129801063	129801063	12893	11	G	A	A	A	559	43	PRDM10	2	2
PIK3C2A	5286	broad.mit.edu	37	11	17115871	17115871	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17115871A>C	uc001mmq.3	-	c.4388T>G	c.(4387-4389)TTT>TGT	p.F1463C	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.F1083C|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1463	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|lung(2)|ovary(1)	7					Phosphatidylserine(DB00144)					733				0.666667	14.402067	14.549641	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17115871	17115871	12333	11	A	C	C	C	13	1	PIK3C2A	4	4
TSG101	7251	broad.mit.edu	37	11	18505561	18505561	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18505561C>T	uc001mor.2	-	c.699G>A	c.(697-699)GCG>GCA	p.A233A		NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	233					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						GBM(99;1348 1396 8611 26475 50572)								0.262911	141.224978	152.041563	56	157	KEEP	---	---	---	---	capture		Silent	SNP	18505561	18505561	17167	11	C	T	T	T	288	23	TSG101	1	1
TMEM86A	144110	broad.mit.edu	37	11	18723452	18723452	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18723452G>C	uc001moz.1	+	c.619G>C	c.(619-621)GCG>CCG	p.A207P		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	207	Helical; (Potential).					integral to membrane				ovary(1)	1														0.688525	146.47421	148.406982	42	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18723452	18723452	16747	11	G	C	C	C	546	42	TMEM86A	3	3
C11orf41	25758	broad.mit.edu	37	11	33628275	33628275	+	Silent	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33628275T>A	uc001mup.3	+	c.4095T>A	c.(4093-4095)TCT>TCA	p.S1365S		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1359						integral to membrane				ovary(2)	2														0.666667	157.981316	159.688128	46	23	KEEP	---	---	---	---	capture		Silent	SNP	33628275	33628275	1679	11	T	A	A	A	704	55	C11orf41	3	3
ABTB2	25841	broad.mit.edu	37	11	34182595	34182595	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34182595G>C	uc001mvl.1	-	c.1694C>G	c.(1693-1695)TCT>TGT	p.S565C		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing	565							DNA binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)												0.266667	10.993084	11.730817	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34182595	34182595	104	11	G	C	C	C	429	33	ABTB2	3	3
PAMR1	25891	broad.mit.edu	37	11	35492293	35492293	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:35492293G>A	uc001mwf.2	-	c.568C>T	c.(568-570)CGC>TGC	p.R190C	PAMR1_uc001mwg.2_Missense_Mutation_p.R190C|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Missense_Mutation_p.R150C	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	190	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2														0.125	6.851594	12.343104	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35492293	35492293	11830	11	G	A	A	A	507	39	PAMR1	1	1
MAPK8IP1	9479	broad.mit.edu	37	11	45926331	45926331	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45926331C>G	uc001nbr.2	+	c.1839C>G	c.(1837-1839)ATC>ATG	p.I613M		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	613	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(1)	1				GBM - Glioblastoma multiforme(35;0.231)										0.15	12.123032	16.820628	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45926331	45926331	9667	11	C	G	G	G	369	29	MAPK8IP1	3	3
NUP160	23279	broad.mit.edu	37	11	47829998	47829998	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47829998G>A	uc001ngm.2	-	c.2325C>T	c.(2323-2325)CTC>CTT	p.L775L	NUP160_uc009ylw.2_Non-coding_Transcript	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	775					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)	6														0.157895	10.024636	14.266894	6	32	KEEP	---	---	---	---	capture		Silent	SNP	47829998	47829998	11162	11	G	A	A	A	574	45	NUP160	2	2
OR4A16	81327	broad.mit.edu	37	11	55111427	55111427	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55111427C>A	uc010rie.1	+	c.751C>A	c.(751-753)CCC>ACC	p.P251T		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3														0.324074	83.656382	86.640311	35	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55111427	55111427	11447	11	C	A	A	A	390	30	OR4A16	2	2
OR4A15	81328	broad.mit.edu	37	11	55135487	55135487	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135487T>C	uc010rif.1	+	c.128T>C	c.(127-129)TTA>TCA	p.L43S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	43	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.380952	128.480148	129.783502	40	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135487	55135487	11446	11	T	C	C	C	793	61	OR4A15	4	4
OR4C11	219429	broad.mit.edu	37	11	55370991	55370991	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55370991G>T	uc010rii.1	-	c.859C>A	c.(859-861)CTG>ATG	p.L287M		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.430556	91.6094	91.912991	31	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55370991	55370991	11451	11	G	T	T	T	464	36	OR4C11	2	2
OR4S2	219431	broad.mit.edu	37	11	55419009	55419009	+	Silent	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55419009T>A	uc001nhs.1	+	c.630T>A	c.(628-630)GTT>GTA	p.V210V		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.346269	310.483	317.479617	116	219	KEEP	---	---	---	---	capture		Silent	SNP	55419009	55419009	11493	11	T	A	A	A	782	61	OR4S2	3	3
OR8K5	219453	broad.mit.edu	37	11	55926935	55926935	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55926935G>C	uc010rja.1	-	c.859C>G	c.(859-861)CCT>GCT	p.P287A		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)												0.117021	7.245813	21.128656	11	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55926935	55926935	11656	11	G	C	C	C	559	43	OR8K5	3	3
OR10Q1	219960	broad.mit.edu	37	11	57995886	57995886	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57995886G>T	uc010rkd.1	-	c.462C>A	c.(460-462)GGC>GGA	p.G154G		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.362637	83.610695	85.136569	33	58	KEEP	---	---	---	---	capture		Silent	SNP	57995886	57995886	11322	11	G	T	T	T	535	42	OR10Q1	2	2
OR10W1	81341	broad.mit.edu	37	11	58034795	58034795	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58034795A>C	uc001nmq.1	-	c.536T>G	c.(535-537)GTT>GGT	p.V179G		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.166667	43.99989	57.270632	21	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58034795	58034795	11327	11	A	C	C	C	26	2	OR10W1	4	4
GLYATL2	219970	broad.mit.edu	37	11	58604808	58604808	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58604808G>C	uc001nnd.3	-	c.249C>G	c.(247-249)GAC>GAG	p.D83E	GLYATL2_uc009ymq.2_Missense_Mutation_p.D83E	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	83						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)					196				0.344828	93.423889	95.27381	30	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58604808	58604808	6749	11	G	C	C	C	620	48	GLYATL2	3	3
OR5AN1	390195	broad.mit.edu	37	11	59132851	59132851	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59132851A>G	uc010rks.1	+	c.920A>G	c.(919-921)AAG>AGG	p.K307R		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.318182	42.734705	44.027414	14	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59132851	59132851	11553	11	A	G	G	G	39	3	OR5AN1	4	4
GIF	2694	broad.mit.edu	37	11	59609961	59609961	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59609961G>C	uc001noi.2	-	c.466C>G	c.(466-468)CGC>GGC	p.R156G	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	156					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						NSCLC(53;1139 1245 16872 38474 42853)								0.219178	71.124845	81.731631	32	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59609961	59609961	6644	11	G	C	C	C	507	39	GIF	3	3
OR56A3	390083	broad.mit.edu	37	11	5969312	5969312	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5969312G>T	uc010qzt.1	+	c.736G>T	c.(736-738)GGC>TGC	p.G246C		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	246	Helical; Name=6; (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)										0.213018	81.109485	93.969531	36	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5969312	5969312	11544	11	G	T	T	T	611	47	OR56A3	2	2
VWCE	220001	broad.mit.edu	37	11	61048167	61048167	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61048167T>A	uc001nra.2	-	c.1253A>T	c.(1252-1254)AAG>ATG	p.K418M	VWCE_uc001nrb.2_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	418	VWFC 1.					extracellular region	calcium ion binding			ovary(1)	1														0.388889	58.961207	59.545688	21	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61048167	61048167	17816	11	T	A	A	A	728	56	VWCE	3	3
C11orf66	220004	broad.mit.edu	37	11	61253281	61253281	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61253281G>T	uc001nru.1	+	c.585G>T	c.(583-585)CAG>CAT	p.Q195H	C11orf66_uc009ynq.1_Missense_Mutation_p.Q195H	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	195										ovary(1)	1														0.324324	31.490405	32.502216	12	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61253281	61253281	1695	11	G	T	T	T	425	33	C11orf66	2	2
AHNAK	79026	broad.mit.edu	37	11	62297923	62297923	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62297923C>G	uc001ntl.2	-	c.3966G>C	c.(3964-3966)AAG>AAC	p.K1322N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1322					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.364964	157.414091	159.611247	50	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62297923	62297923	417	11	C	G	G	G	415	32	AHNAK	3	3
ZBTB3	79842	broad.mit.edu	37	11	62519825	62519825	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62519825G>T	uc001nuz.2	-	c.1462C>A	c.(1462-1464)CGG>AGG	p.R488R		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	488	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2														0.12766	9.124371	15.470186	6	41	KEEP	---	---	---	---	capture		Silent	SNP	62519825	62519825	18120	11	G	T	T	T	519	40	ZBTB3	1	1
FAM86C	55199	broad.mit.edu	37	11	71504425	71504425	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71504425G>T	uc001oqv.3	+	c.160_splice	c.e3-1	p.H54_splice	FAM86C_uc009ysr.2_Intron|FAM86C_uc001oqw.3_Intron|FAM86C_uc009yss.2_Intron|FAM86C_uc010rqq.1_Intron	NM_018172	NP_060642			hypothetical protein LOC55199 isoform 1												0														0.214286	7.017042	8.072568	3	11	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	71504425	71504425	5872	11	G	T	T	T	442	34	FAM86C	5	2
NUMA1	4926	broad.mit.edu	37	11	71715082	71715082	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71715082G>C	uc001orl.1	-	c.6187C>G	c.(6187-6189)CTT>GTT	p.L2063V	IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.L245V|NUMA1_uc009ysw.1_Missense_Mutation_p.L1630V|NUMA1_uc001ork.1_Missense_Mutation_p.L927V|NUMA1_uc001orm.1_Missense_Mutation_p.L2049V	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2063					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8										525				0.258065	34.522396	37.857378	16	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71715082	71715082	11155	11	G	C	C	C	455	35	NUMA1	3	3
FCHSD2	9873	broad.mit.edu	37	11	72726866	72726866	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72726866C>T	uc009ytl.2	-	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	FCHSD2_uc010rrg.1_5'UTR|FCHSD2_uc001oth.3_Missense_Mutation_p.R21Q|FCHSD2_uc001oti.2_Missense_Mutation_p.R36Q	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	77							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)											0.115942	10.00066	19.978162	8	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72726866	72726866	6027	11	C	T	T	T	299	23	FCHSD2	1	1
P2RY2	5029	broad.mit.edu	37	11	72945675	72945675	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72945675G>T	uc001otj.2	+	c.471G>T	c.(469-471)GTG>GTT	p.V157V	P2RY2_uc001otk.2_Silent_p.V157V|P2RY2_uc001otl.2_Silent_p.V157V	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	157	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)	2					Suramin(DB04786)									0.173913	8.885803	11.193944	4	19	KEEP	---	---	---	---	capture		Silent	SNP	72945675	72945675	11765	11	G	T	T	T	613	48	P2RY2	2	2
OR5P2	120065	broad.mit.edu	37	11	7817741	7817741	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7817741G>T	uc001mfp.1	-	c.749C>A	c.(748-750)ACC>AAC	p.T250N		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.336449	100.016919	102.524616	36	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7817741	7817741	11588	11	G	T	T	T	572	44	OR5P2	2	2
C11orf82	220042	broad.mit.edu	37	11	82644076	82644076	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82644076G>T	uc001ozt.2	+	c.1696G>T	c.(1696-1698)GAG>TAG	p.E566*	C11orf82_uc010rsr.1_Nonsense_Mutation_p.E265*|C11orf82_uc010rss.1_Nonsense_Mutation_p.E265*|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	566					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2														0.434783	56.390541	56.561543	20	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82644076	82644076	1704	11	G	T	T	T	533	41	C11orf82	5	2
FZD4	8322	broad.mit.edu	37	11	86662549	86662549	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:86662549G>A	uc001pce.2	-	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	417	Cytoplasmic (Potential).		R -> Q (in EVR1; 48% loss of its wild- type activity; associated in a EVR4 patient with mutation CYS-444 in LPR5).		canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm|integral to plasma membrane	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.133333	18.453984	30.184155	12	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86662549	86662549	6383	11	G	A	A	A	480	37	FZD4	1	1
HEPHL1	341208	broad.mit.edu	37	11	93797496	93797496	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93797496G>A	uc001pep.2	+	c.629_splice	c.e4-1	p.G210_splice		NM_001098672	NP_001092142			hephaestin-like 1 precursor						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)												0.36	82.808312	84.100776	27	48	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	93797496	93797496	7338	11	G	A	A	A	455	35	HEPHL1	5	2
PIWIL4	143689	broad.mit.edu	37	11	94351135	94351135	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94351135G>T	uc001pfa.2	+	c.2030G>T	c.(2029-2031)TGG>TTG	p.W677L	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.1_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	677	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.276596	101.761277	108.097815	39	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94351135	94351135	12384	11	G	T	T	T	611	47	PIWIL4	2	2
CLEC7A	64581	broad.mit.edu	37	12	10280406	10280406	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10280406C>G	uc001qxg.2	-	c.142G>C	c.(142-144)GTA>CTA	p.V48L	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.V48L|CLEC7A_uc001qxh.2_Missense_Mutation_p.V48L|CLEC7A_uc001qxi.2_Missense_Mutation_p.V48L|CLEC7A_uc001qxj.2_Intron|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc001qxl.1_Missense_Mutation_p.V48L|CLEC7A_uc010sgy.1_Missense_Mutation_p.V48L|CLEC7A_uc001qxm.1_Missense_Mutation_p.V48L|CLEC7A_uc001qxn.2_Missense_Mutation_p.V48L	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	48	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	MHC protein binding|sugar binding			central_nervous_system(1)	1														0.538462	24.726289	24.743029	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10280406	10280406	3659	12	C	G	G	G	221	17	CLEC7A	3	3
STAB2	55576	broad.mit.edu	37	12	104046429	104046429	+	Silent	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104046429A>T	uc001tjw.2	+	c.1353A>T	c.(1351-1353)ACA>ACT	p.T451T		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	451	Extracellular (Potential).|FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.488889	72.949242	72.954065	22	23	KEEP	---	---	---	---	capture		Silent	SNP	104046429	104046429	15756	12	A	T	T	T	80	7	STAB2	3	3
STAB2	55576	broad.mit.edu	37	12	104121076	104121076	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104121076G>T	uc001tjw.2	+	c.4883G>T	c.(4882-4884)GGC>GTC	p.G1628V	STAB2_uc009zug.2_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1628	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.070048	-24.534005	54.27691	29	385	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104121076	104121076	15756	12	G	T	T	T	546	42	STAB2	2	2
CMKLR1	1240	broad.mit.edu	37	12	108686630	108686630	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108686630C>A	uc009zuw.2	-	c.110G>T	c.(109-111)AGG>ATG	p.R37M	CMKLR1_uc001tmw.2_Missense_Mutation_p.R37M|CMKLR1_uc001tmv.2_Missense_Mutation_p.R35M|CMKLR1_uc009zuv.2_Missense_Mutation_p.R37M	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	37	Extracellular (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.658537	172.56979	174.389776	54	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108686630	108686630	3717	12	C	A	A	A	312	24	CMKLR1	2	2
SSH1	54434	broad.mit.edu	37	12	109198892	109198892	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109198892C>A	uc001tnm.2	-	c.894G>T	c.(892-894)GAG>GAT	p.E298D	SSH1_uc001tnl.2_Missense_Mutation_p.R2I|SSH1_uc010sxg.1_Missense_Mutation_p.E309D|SSH1_uc001tnn.3_Missense_Mutation_p.E298D	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	298					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4														0.078947	-0.306616	6.575729	3	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109198892	109198892	15700	12	C	A	A	A	415	32	SSH1	2	2
SFRS9	8683	broad.mit.edu	37	12	120901792	120901792	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120901792G>A	uc001tyi.2	-	c.483C>T	c.(481-483)GCC>GCT	p.A161A		NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	161	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.353846	69.107519	70.330886	23	42	KEEP	---	---	---	---	capture		Silent	SNP	120901792	120901792	14674	12	G	A	A	A	548	43	SFRS9	2	2
RIMBP2	23504	broad.mit.edu	37	12	130941233	130941233	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130941233C>A	uc001uil.2	-	c.115G>T	c.(115-117)GAG>TAG	p.E39*	RIMBP2_uc001uim.2_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	39						cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)										0.315789	16.042466	16.616318	6	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130941233	130941233	13838	12	C	A	A	A	416	32	RIMBP2	5	2
STX2	2054	broad.mit.edu	37	12	131293210	131293210	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:131293210C>G	uc001uio.2	-	c.320G>C	c.(319-321)CGG>CCG	p.R107P	STX2_uc001uip.2_Missense_Mutation_p.R107P|STX2_uc010tbj.1_Missense_Mutation_p.R107P	NM_194356	NP_919337	P32856	STX2_HUMAN	syntaxin 2 isoform 2	107	Cytoplasmic (Potential).				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)										0.126866	26.190364	44.382198	17	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131293210	131293210	15865	12	C	G	G	G	299	23	STX2	3	3
STX2	2054	broad.mit.edu	37	12	131293229	131293229	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:131293229G>C	uc001uio.2	-	c.301C>G	c.(301-303)CAG>GAG	p.Q101E	STX2_uc001uip.2_Missense_Mutation_p.Q101E|STX2_uc010tbj.1_Missense_Mutation_p.Q101E	NM_194356	NP_919337	P32856	STX2_HUMAN	syntaxin 2 isoform 2	101	Potential.|Cytoplasmic (Potential).				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)										0.105263	14.112511	31.769631	12	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131293229	131293229	15865	12	G	C	C	C	585	45	STX2	3	3
IFLTD1	160492	broad.mit.edu	37	12	25672901	25672901	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25672901C>A	uc010sji.1	-	c.907G>T	c.(907-909)GTG>TTG	p.V303L	IFLTD1_uc001rgs.2_Missense_Mutation_p.V282L|IFLTD1_uc001rgt.1_Missense_Mutation_p.V185L|IFLTD1_uc010sjj.1_Missense_Mutation_p.V219L|IFLTD1_uc009zjc.2_Missense_Mutation_p.V263L	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	282						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)													0.477612	97.494701	97.523962	32	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25672901	25672901	7831	12	C	A	A	A	221	17	IFLTD1	2	2
CACNA1C	775	broad.mit.edu	37	12	2794920	2794920	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2794920C>T	uc009zdu.1	+	c.5841C>T	c.(5839-5841)GAC>GAT	p.D1947D	CACNA1C_uc009zdv.1_Silent_p.D1861D|CACNA1C_uc001qkb.2_Silent_p.D1864D|CACNA1C_uc001qkc.2_Silent_p.D1883D|CACNA1C_uc001qke.2_Silent_p.D1853D|CACNA1C_uc001qkf.2_Silent_p.D1872D|CACNA1C_uc001qjz.2_Silent_p.D1864D|CACNA1C_uc001qkd.2_Silent_p.D1883D|CACNA1C_uc001qkg.2_Silent_p.D1870D|CACNA1C_uc009zdw.1_Silent_p.D1905D|CACNA1C_uc001qkh.2_Silent_p.D1872D|CACNA1C_uc001qkl.2_Silent_p.D1912D|CACNA1C_uc001qkn.2_Silent_p.D1864D|CACNA1C_uc001qko.2_Silent_p.D1884D|CACNA1C_uc001qkp.2_Silent_p.D1864D|CACNA1C_uc001qkr.2_Silent_p.D1881D|CACNA1C_uc001qku.2_Silent_p.D1899D|CACNA1C_uc001qkq.2_Silent_p.D1892D|CACNA1C_uc001qks.2_Silent_p.D1864D|CACNA1C_uc001qkt.2_Silent_p.D1883D|CACNA1C_uc001qki.1_Silent_p.D1671D|CACNA1C_uc001qkj.1_Silent_p.D1635D|CACNA1C_uc001qkk.1_Silent_p.D1600D|CACNA1C_uc001qkm.1_Silent_p.D1660D|CACNA1C_uc010sea.1_Silent_p.D555D|CACNA1C_uc001qky.1_Silent_p.D182D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1947	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.333333	35.46447	36.42266	13	26	KEEP	---	---	---	---	capture		Silent	SNP	2794920	2794920	2656	12	C	T	T	T	246	19	CACNA1C	1	1
OVCH1	341350	broad.mit.edu	37	12	29617494	29617494	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29617494G>T	uc001rix.1	-	c.2071C>A	c.(2071-2073)CCT>ACT	p.P691T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	691	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.568182	72.059428	72.235304	25	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29617494	29617494	11736	12	G	T	T	T	546	42	OVCH1	2	2
CELA1	1990	broad.mit.edu	37	12	51733776	51733776	+	Silent	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51733776C>G	uc001ryi.1	-	c.477G>C	c.(475-477)CTG>CTC	p.L159L		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	159	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			breast(1)	1														0.266667	9.693248	10.431109	4	11	KEEP	---	---	---	---	capture		Silent	SNP	51733776	51733776	3343	12	C	G	G	G	262	21	CELA1	3	3
AMHR2	269	broad.mit.edu	37	12	53824052	53824052	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53824052C>T	uc001scx.1	+	c.1411C>T	c.(1411-1413)CGC>TGC	p.R471C	AMHR2_uc009zmy.1_Silent_p.G469G	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	471	Cytoplasmic (Potential).|Protein kinase.				Mullerian duct regression|protein phosphorylation		ATP binding|hormone binding|metal ion binding			ovary(1)	1					Adenosine triphosphate(DB00171)					136				0.201923	44.52101	53.105923	21	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53824052	53824052	576	12	C	T	T	T	351	27	AMHR2	1	1
OR6C2	341416	broad.mit.edu	37	12	55846562	55846562	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55846562G>T	uc001sgz.1	+	c.565G>T	c.(565-567)GAT>TAT	p.D189Y		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.68	371.669339	376.703948	119	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55846562	55846562	11601	12	G	T	T	T	429	33	OR6C2	2	2
MYO1A	4640	broad.mit.edu	37	12	57440853	57440853	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57440853A>T	uc001smw.3	-	c.469T>A	c.(469-471)TCC>ACC	p.S157T	MYO1A_uc010sqz.1_Intron|MYO1A_uc009zpd.2_Missense_Mutation_p.S157T	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	157	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|urinary_tract(1)|skin(1)	4														0.764045	222.538617	228.209648	68	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57440853	57440853	10463	12	A	T	T	T	143	11	MYO1A	3	3
TMEM194A	23306	broad.mit.edu	37	12	57457954	57457954	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57457954G>A	uc001smy.2	-	c.654C>T	c.(652-654)TAC>TAT	p.Y218Y	TMEM194A_uc001smx.2_Silent_p.Y145Y|TMEM194A_uc010sra.1_Intron	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	218	Helical; (Potential).					integral to membrane					0														0.769231	129.321974	132.775113	40	12	KEEP	---	---	---	---	capture		Silent	SNP	57457954	57457954	16650	12	G	A	A	A	516	40	TMEM194A	1	1
DPY19L2	283417	broad.mit.edu	37	12	64061933	64061933	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64061933G>T	uc001srp.1	-	c.241C>A	c.(241-243)CCC>ACC	p.P81T	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	81					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)										0.192	44.948289	56.013317	24	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64061933	64061933	4925	12	G	T	T	T	559	43	DPY19L2	2	2
BEST3	144453	broad.mit.edu	37	12	70070771	70070771	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70070771G>A	uc001svg.2	-	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	BEST3_uc001svd.1_Silent_p.Y264Y|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Intron|BEST3_uc010stm.1_Silent_p.Y158Y|BEST3_uc001svh.2_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	264	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)											0.144928	45.7717	70.839385	30	177	KEEP	---	---	---	---	capture		Silent	SNP	70070771	70070771	1429	12	G	A	A	A	516	40	BEST3	1	1
PTPRB	5787	broad.mit.edu	37	12	71029451	71029451	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71029451C>A	uc001swc.3	-	c.451G>T	c.(451-453)GCT>TCT	p.A151S	PTPRB_uc001swa.3_Missense_Mutation_p.A151S|PTPRB_uc001swd.3_Missense_Mutation_p.A150S|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Missense_Mutation_p.A151S	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					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)											0.049383	-9.469956	7.994978	4	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71029451	71029451	13253	12	C	A	A	A	312	24	PTPRB	2	2
PLEKHG7	440107	broad.mit.edu	37	12	93147902	93147902	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:93147902G>A	uc001tcj.2	+	c.352G>A	c.(352-354)GTG>ATG	p.V118M		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	118	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1														0.414286	84.27709	84.721809	29	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93147902	93147902	12501	12	G	A	A	A	520	40	PLEKHG7	1	1
NALCN	259232	broad.mit.edu	37	13	102047643	102047643	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:102047643A>T	uc001vox.1	-	c.182T>A	c.(181-183)TTC>TAC	p.F61Y	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.F61Y|NALCN_uc001vpa.2_Missense_Mutation_p.F61Y	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	61	Helical; Name=S1 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.602564	137.726028	138.441811	47	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102047643	102047643	10544	13	A	T	T	T	117	9	NALCN	3	3
F10	2159	broad.mit.edu	37	13	113798342	113798342	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113798342G>T	uc001vsx.2	+	c.680G>T	c.(679-681)AGG>ATG	p.R227M	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.2_Missense_Mutation_p.R227M|F10_uc001vsz.2_Missense_Mutation_p.R227M	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	227					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|intrinsic to external side of plasma membrane	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.3	15.641362	16.356646	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113798342	113798342	5530	13	G	T	T	T	455	35	F10	2	2
TUBA3C	7278	broad.mit.edu	37	13	19753625	19753625	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:19753625G>A	uc009zzj.2	-	c.82C>T	c.(82-84)CAT>TAT	p.H28Y		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	28					'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)										0.586957	82.835956	83.141907	27	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19753625	19753625	17301	13	G	A	A	A	624	48	TUBA3C	2	2
SACS	26278	broad.mit.edu	37	13	23915047	23915047	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:23915047T>A	uc001uon.2	-	c.2968A>T	c.(2968-2970)AGC>TGC	p.S990C	SACS_uc001uoo.2_Missense_Mutation_p.S843C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	990					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)						738				0.514286	56.551946	56.558235	18	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23915047	23915047	14284	13	T	A	A	A	689	53	SACS	3	3
NBEA	26960	broad.mit.edu	37	13	36046595	36046595	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36046595G>T	uc001uvb.2	+	c.6507G>T	c.(6505-6507)GGG>GGT	p.G2169G	NBEA_uc010abi.2_Silent_p.G825G|NBEA_uc010tee.1_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2169						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)										0.371429	32.923089	33.408796	13	22	KEEP	---	---	---	---	capture		Silent	SNP	36046595	36046595	10583	13	G	T	T	T	522	41	NBEA	2	2
TRPC4	7223	broad.mit.edu	37	13	38357119	38357119	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38357119G>T	uc010abx.2	-	c.352C>A	c.(352-354)CAC>AAC	p.H118N	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.H118N|TRPC4_uc001uws.2_Missense_Mutation_p.H118N|TRPC4_uc010tey.1_Missense_Mutation_p.H118N|TRPC4_uc010abw.2_Missense_Mutation_p.H118N|TRPC4_uc010aby.2_Missense_Mutation_p.H118N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	118	ANK 3.|Cytoplasmic (Potential).|Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.492063	92.472135	92.476456	31	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38357119	38357119	17131	13	G	T	T	T	611	47	TRPC4	2	2
FREM2	341640	broad.mit.edu	37	13	39454433	39454433	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:39454433C>A	uc001uwv.2	+	c.9019C>A	c.(9019-9021)CGA>AGA	p.R3007R		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	3007	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	10		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)										0.119048	5.14886	11.131862	5	37	KEEP	---	---	---	---	capture		Silent	SNP	39454433	39454433	6292	13	C	A	A	A	295	23	FREM2	1	1
STOML3	161003	broad.mit.edu	37	13	39541077	39541077	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:39541077C>A	uc001uwx.2	-	c.761G>T	c.(760-762)AGC>ATC	p.S254I	STOML3_uc010tez.1_Missense_Mutation_p.S245I	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	254	Cytoplasmic (Potential).					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)										0.225352	37.368177	42.284191	16	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39541077	39541077	15835	13	C	A	A	A	364	28	STOML3	2	2
HTR2A	3356	broad.mit.edu	37	13	47469742	47469742	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:47469742G>A	uc001vbq.2	-	c.300C>T	c.(298-300)TCC>TCT	p.S100S	HTR2A_uc001vbr.2_Intron|HTR2A_uc010acr.2_Silent_p.S100S	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	100	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|central_nervous_system(1)	4		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.588235	192.614744	193.307994	60	42	KEEP	---	---	---	---	capture		Silent	SNP	47469742	47469742	7741	13	G	A	A	A	548	43	HTR2A	2	2
OLFM4	10562	broad.mit.edu	37	13	53603065	53603065	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53603065C>A	uc001vhl.2	+	c.94C>A	c.(94-96)CCC>ACC	p.P32T	OLFM4_uc001vhk.1_Missense_Mutation_p.P32T	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	32	Ser-rich.				cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)						717				0.544444	147.779389	147.934808	49	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53603065	53603065	11260	13	C	A	A	A	286	22	OLFM4	2	2
SLITRK1	114798	broad.mit.edu	37	13	84454262	84454262	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84454262G>C	uc001vlk.2	-	c.1381C>G	c.(1381-1383)CTC>GTC	p.L461V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	461	Extracellular (Potential).|LRR 10.					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.6	78.605393	78.954768	24	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84454262	84454262	15240	13	G	C	C	C	442	34	SLITRK1	3	3
DYNC1H1	1778	broad.mit.edu	37	14	102474633	102474633	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102474633A>G	uc001yks.2	+	c.5936A>G	c.(5935-5937)CAG>CGG	p.Q1979R		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1979	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.24	13.032254	14.580427	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102474633	102474633	5027	14	A	G	G	G	91	7	DYNC1H1	4	4
DYNC1H1	1778	broad.mit.edu	37	14	102502947	102502947	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102502947G>T	uc001yks.2	+	c.10876G>T	c.(10876-10878)GCA>TCA	p.A3626S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3626	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.411111	108.256153	108.877852	37	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102502947	102502947	5027	14	G	T	T	T	598	46	DYNC1H1	2	2
OR4M1	441670	broad.mit.edu	37	14	20248771	20248771	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20248771G>A	uc010tku.1	+	c.290G>A	c.(289-291)TGC>TAC	p.C97Y		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.286517	247.290391	261.79903	102	254	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20248771	20248771	11485	14	G	A	A	A	598	46	OR4M1	2	2
CMA1	1215	broad.mit.edu	37	14	24976710	24976710	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24976710C>T	uc001wpp.1	-	c.61G>A	c.(61-63)GAG>AAG	p.E21K	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	chymase 1, mast cell preproprotein	21					interleukin-1 beta biosynthetic process|proteolysis|regulation of inflammatory response	extracellular region	serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.0271)										0.25	120.06555	131.424145	50	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24976710	24976710	3712	14	C	T	T	T	390	30	CMA1	2	2
CFL2	1073	broad.mit.edu	37	14	35182632	35182632	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:35182632T>A	uc001wsg.3	-	c.139A>T	c.(139-141)ATA>TTA	p.I47L	CFL2_uc010tpn.1_Missense_Mutation_p.I30L|CFL2_uc001wsh.3_Missense_Mutation_p.I47L|CFL2_uc001wsi.3_Intron|CFL2_uc001wsj.3_Non-coding_Transcript	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	cofilin 2	47	ADF-H.		I -> M (in a breast cancer sample; somatic mutation).			cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(2)	2	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)										0.391304	25.871101	26.108623	9	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35182632	35182632	3424	14	T	A	A	A	676	52	CFL2	3	3
RPL10L	140801	broad.mit.edu	37	14	47120507	47120507	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47120507C>A	uc001wwg.2	-	c.433G>T	c.(433-435)GAG>TAG	p.E145*		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	145					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1														0.2	48.494111	57.698182	22	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47120507	47120507	14035	14	C	A	A	A	403	31	RPL10L	5	1
SLC38A6	145389	broad.mit.edu	37	14	61482646	61482646	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:61482646G>T	uc001xfh.1	+	c.335G>T	c.(334-336)GGA>GTA	p.G112V	SLC38A6_uc001xfg.1_Missense_Mutation_p.G112V|SLC38A6_uc001xfi.2_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.2_Non-coding_Transcript|SLC38A6_uc010trz.1_Missense_Mutation_p.G89V	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	112	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0981)										0.186047	32.045013	39.992877	16	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61482646	61482646	15105	14	G	T	T	T	533	41	SLC38A6	2	2
RAB15	376267	broad.mit.edu	37	14	65417703	65417703	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65417703G>C	uc001xhz.2	-	c.413C>G	c.(412-414)TCC>TGC	p.S138C	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_Non-coding_Transcript	NM_198686	NP_941959	P59190	RAB15_HUMAN	RAB15, member RAS onocogene family	207					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)	1				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)						368				0.170213	13.114681	18.06221	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65417703	65417703	13360	14	G	C	C	C	533	41	RAB15	3	3
ADAM21	8747	broad.mit.edu	37	14	70925650	70925650	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70925650T>A	uc001xmd.2	+	c.1434T>A	c.(1432-1434)AAT>AAA	p.N478K		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	478	Disintegrin.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)	1				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)										0.203704	52.99224	61.790721	22	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70925650	70925650	244	14	T	A	A	A	660	51	ADAM21	3	3
MAP3K9	4293	broad.mit.edu	37	14	71199705	71199705	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71199705C>A	uc001xml.2	-	c.2423G>T	c.(2422-2424)CGG>CTG	p.R808L	MAP3K9_uc010ttk.1_Missense_Mutation_p.R522L|MAP3K9_uc001xmk.2_Missense_Mutation_p.R527L|MAP3K9_uc001xmm.2_Missense_Mutation_p.R794L	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	794					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GBM(114;411 1587 13539 28235 50070)				190				0.390244	48.495989	48.926761	16	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71199705	71199705	9640	14	C	A	A	A	299	23	MAP3K9	1	1
ACOT6	641372	broad.mit.edu	37	14	74083897	74083897	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74083897G>C	uc001xop.2	+	c.18_splice	c.e1+1	p.K6_splice		NM_001037162	NP_001032239			acyl-CoA thioesterase 6							cytosol	carboxylesterase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)										0.361111	83.034746	84.255384	26	46	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	74083897	74083897	155	14	G	C	C	C	572	44	ACOT6	5	3
MLH3	27030	broad.mit.edu	37	14	75514425	75514425	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75514425C>T	uc001xrd.1	-	c.1934G>A	c.(1933-1935)AGA>AAA	p.R645K	MLH3_uc001xre.1_Missense_Mutation_p.R645K|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	645					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)										0.428571	63.46731	63.685268	21	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75514425	75514425	10008	14	C	T	T	T	416	32	MLH3	2	2
C14orf148	122945	broad.mit.edu	37	14	77873817	77873817	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77873817G>T	uc001xtr.2	-	c.521C>A	c.(520-522)CCA>CAA	p.P174Q	C14orf148_uc010tvi.1_Missense_Mutation_p.P174Q	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	174					oxidation-reduction process|proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)										0.269076	172.8998	184.895001	67	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77873817	77873817	1799	14	G	T	T	T	611	47	C14orf148	2	2
ADCK1	57143	broad.mit.edu	37	14	78353513	78353513	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:78353513A>T	uc001xui.2	+	c.503A>T	c.(502-504)CAT>CTT	p.H168L	ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.2_Missense_Mutation_p.H100L|ADCK1_uc001xuk.1_Missense_Mutation_p.H42L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	175	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)						200				0.166667	15.835721	21.537858	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78353513	78353513	289	14	A	T	T	T	104	8	ADCK1	3	3
DIO2	1734	broad.mit.edu	37	14	80677673	80677673	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80677673C>T	uc010tvp.1	-	c.143G>A	c.(142-144)CGC>CAC	p.R48H	DIO2_uc001xut.2_Non-coding_Transcript|DIO2_uc010asx.2_Missense_Mutation_p.R48H|DIO2_uc010tvq.1_Missense_Mutation_p.R48H|DIO2_uc010tvr.1_Missense_Mutation_p.R48H|DIO2_uc010asy.2_Missense_Mutation_p.R48H	NM_001007023	NP_001007024	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform b	48					hormone biosynthetic process|oxidation-reduction process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0281)										0.424242	39.746462	39.911058	14	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80677673	80677673	4704	14	C	T	T	T	351	27	DIO2	1	1
ZC3H14	79882	broad.mit.edu	37	14	89041146	89041146	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:89041146G>T	uc001xww.2	+	c.971G>T	c.(970-972)CGA>CTA	p.R324L	ZC3H14_uc010twd.1_Missense_Mutation_p.R324L|ZC3H14_uc010twe.1_Missense_Mutation_p.R324L|ZC3H14_uc001xwx.2_Missense_Mutation_p.R324L|ZC3H14_uc010twf.1_Missense_Mutation_p.R169L|ZC3H14_uc001xwy.2_Missense_Mutation_p.R290L|ZC3H14_uc010twg.1_Missense_Mutation_p.R169L|ZC3H14_uc001xxa.2_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	324						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)	2														0.442308	70.72285	70.872544	23	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89041146	89041146	18154	14	G	T	T	T	481	37	ZC3H14	1	1
KIAA1409	57578	broad.mit.edu	37	14	94084621	94084621	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94084621T>A	uc001ybv.1	+	c.3843T>A	c.(3841-3843)CAT>CAA	p.H1281Q	KIAA1409_uc001ybs.1_Missense_Mutation_p.H1259Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1436						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.434343	131.716585	132.087197	43	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94084621	94084621	8539	14	T	A	A	A	634	49	KIAA1409	3	3
KIAA1409	57578	broad.mit.edu	37	14	94089145	94089145	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94089145T>C	uc001ybv.1	+	c.5101T>C	c.(5101-5103)TCC>CCC	p.S1701P	KIAA1409_uc001ybs.1_Missense_Mutation_p.S1679P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1856						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.100629	15.388424	40.699381	16	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94089145	94089145	8539	14	T	C	C	C	702	54	KIAA1409	4	4
SERPINA4	5267	broad.mit.edu	37	14	95035874	95035874	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95035874C>A	uc010avd.2	+	c.1337C>A	c.(1336-1338)TCC>TAC	p.S446Y	SERPINA4_uc001ydk.2_Missense_Mutation_p.S409Y|SERPINA4_uc001ydl.2_Missense_Mutation_p.S409Y	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	409					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)	3				COAD - Colon adenocarcinoma(157;0.211)										0.494737	134.309259	134.311701	47	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95035874	95035874	14579	14	C	A	A	A	390	30	SERPINA4	2	2
ATG2B	55102	broad.mit.edu	37	14	96794827	96794827	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96794827G>A	uc001yfi.2	-	c.2020C>T	c.(2020-2022)CAA>TAA	p.Q674*		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	674										ovary(1)|kidney(1)	2		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)										0.192982	22.489934	27.507746	11	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	96794827	96794827	1113	14	G	A	A	A	598	46	ATG2B	5	2
C15orf55	256646	broad.mit.edu	37	15	34640442	34640442	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34640442G>T	uc010ucc.1	+	c.373G>T	c.(373-375)GGG>TGG	p.G125W	C15orf55_uc010ucd.1_Missense_Mutation_p.G115W|C15orf55_uc001zif.2_Missense_Mutation_p.G97W	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	97	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.633333	115.959842	116.900177	38	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34640442	34640442	1853	15	G	T	T	T	559	43	C15orf55	2	2
TGM5	9333	broad.mit.edu	37	15	43526973	43526973	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43526973C>T	uc001zrd.1	-	c.1869G>A	c.(1867-1869)ACG>ACA	p.T623T	TGM5_uc001zrc.1_Silent_p.T280T|TGM5_uc001zre.1_Silent_p.T541T	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	623					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)									0.354167	49.062213	49.961531	17	31	KEEP	---	---	---	---	capture		Silent	SNP	43526973	43526973	16361	15	C	T	T	T	392	31	TGM5	1	1
STRA6	64220	broad.mit.edu	37	15	74477340	74477340	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74477340G>A	uc002axj.2	-	c.1264C>T	c.(1264-1266)CGC>TGC	p.R422C	STRA6_uc002axi.2_Missense_Mutation_p.R192C|STRA6_uc010ulh.1_Missense_Mutation_p.R421C|STRA6_uc002axk.2_Missense_Mutation_p.R383C|STRA6_uc010bji.2_Missense_Mutation_p.R383C|STRA6_uc002axl.2_Missense_Mutation_p.R315C|STRA6_uc002axm.2_Missense_Mutation_p.R383C|STRA6_uc002axn.2_Missense_Mutation_p.R374C|STRA6_uc010uli.1_Missense_Mutation_p.R420C|STRA6_uc010bjj.1_Non-coding_Transcript	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	383	Extracellular (Potential).				transport	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1														0.176471	11.330594	14.683882	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74477340	74477340	15842	15	G	A	A	A	494	38	STRA6	1	1
KIAA1199	57214	broad.mit.edu	37	15	81171177	81171177	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81171177C>A	uc002bfw.1	+	c.210C>A	c.(208-210)GCC>GCA	p.A70A	KIAA1199_uc010unn.1_Silent_p.A70A	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	70	G8.									ovary(1)	1														0.594595	68.85358	69.142411	22	15	KEEP	---	---	---	---	capture		Silent	SNP	81171177	81171177	8521	15	C	A	A	A	262	21	KIAA1199	2	2
RHBDF1	64285	broad.mit.edu	37	16	108670	108670	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:108670C>T	uc002cfl.3	-	c.2237G>A	c.(2236-2238)CGT>CAT	p.R746H		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	746	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)												0.384615	13.171591	13.323352	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108670	108670	13794	16	C	T	T	T	247	19	RHBDF1	1	1
RHBDF1	64285	broad.mit.edu	37	16	112636	112636	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:112636A>T	uc002cfl.3	-	c.853T>A	c.(853-855)TCG>ACG	p.S285T	RHBDF1_uc010uty.1_Missense_Mutation_p.S308T|RHBDF1_uc010utz.1_Missense_Mutation_p.S285T|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	285	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)												0.223881	34.59067	39.285935	15	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112636	112636	13794	16	A	T	T	T	156	12	RHBDF1	3	3
C16orf75	116028	broad.mit.edu	37	16	11444629	11444629	+	Silent	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:11444629A>G	uc002daw.1	+	c.426A>G	c.(424-426)TTA>TTG	p.L142L	C16orf75_uc002daq.1_Non-coding_Transcript	NM_152308	NP_689521	Q96E14	RMI2_HUMAN	RecQ-mediated genome instability protein 2	142					DNA replication	nucleus	DNA binding			ovary(1)	1														0.071429	-1.107491	6.840417	3	39	KEEP	---	---	---	---	capture		Silent	SNP	11444629	11444629	1887	16	A	G	G	G	180	14	C16orf75	4	4
PTX4	390667	broad.mit.edu	37	16	1536155	1536155	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1536155C>T	uc010uvf.1	-	c.1207G>A	c.(1207-1209)GAC>AAC	p.D403N		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	408	Pentaxin.	Calcium 2 (By similarity).|Calcium 1 (By similarity).				extracellular region	metal ion binding				0														0.3	8.421034	8.778439	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1536155	1536155	13281	16	C	T	T	T	416	32	PTX4	2	2
ACSM2A	123876	broad.mit.edu	37	16	20482944	20482944	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20482944C>A	uc010bwe.2	+	c.827C>A	c.(826-828)CCT>CAT	p.P276H	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.P197H|ACSM2A_uc002dhf.3_Missense_Mutation_p.P276H|ACSM2A_uc002dhg.3_Missense_Mutation_p.P276H|ACSM2A_uc010vay.1_Missense_Mutation_p.P197H	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	276					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)	1														0.030303	-56.287393	15.604324	9	288	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20482944	20482944	184	16	C	A	A	A	312	24	ACSM2A	2	2
ERN2	10595	broad.mit.edu	37	16	23718103	23718103	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23718103G>A	uc002dma.3	-	c.603C>T	c.(601-603)TCC>TCT	p.S201S	ERN2_uc010bxp.2_Silent_p.S201S|ERN2_uc010bxq.1_Silent_p.S9S	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	153	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|protein phosphorylation|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)						225				0.488889	70.857293	70.861746	22	23	KEEP	---	---	---	---	capture		Silent	SNP	23718103	23718103	5431	16	G	A	A	A	600	47	ERN2	2	2
RBBP6	5930	broad.mit.edu	37	16	24578601	24578601	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24578601C>T	uc002dmh.2	+	c.1727C>T	c.(1726-1728)CCG>CTG	p.P576L	RBBP6_uc010vcb.1_Missense_Mutation_p.P443L|RBBP6_uc002dmi.2_Missense_Mutation_p.P576L|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.P443L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	576					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.244275	82.346563	90.145349	32	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24578601	24578601	13564	16	C	T	T	T	299	23	RBBP6	1	1
TNRC6A	27327	broad.mit.edu	37	16	24802584	24802584	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24802584G>T	uc002dmm.2	+	c.2621G>T	c.(2620-2622)AGC>ATC	p.S874I	TNRC6A_uc010bxs.2_Missense_Mutation_p.S621I|TNRC6A_uc010vcc.1_Missense_Mutation_p.S621I|TNRC6A_uc002dmn.2_Missense_Mutation_p.S621I|TNRC6A_uc002dmo.2_Missense_Mutation_p.S621I	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	874	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)										0.272727	53.874875	57.439075	21	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24802584	24802584	16881	16	G	T	T	T	442	34	TNRC6A	2	2
SEZ6L2	26470	broad.mit.edu	37	16	29908169	29908169	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29908169G>T	uc010vec.1	-	c.485C>A	c.(484-486)ACT>AAT	p.T162N	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T92N|SEZ6L2_uc002dur.3_Missense_Mutation_p.T92N|SEZ6L2_uc002duq.3_Missense_Mutation_p.T162N|SEZ6L2_uc002dus.3_Missense_Mutation_p.T162N|SEZ6L2_uc010ved.1_Missense_Mutation_p.T118N	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	162	Thr-rich.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)	1														0.466667	44.948067	44.977034	14	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29908169	29908169	14633	16	G	T	T	T	468	36	SEZ6L2	2	2
MYLK3	91807	broad.mit.edu	37	16	46766387	46766387	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46766387C>A	uc002eei.3	-	c.1195G>T	c.(1195-1197)GAG>TAG	p.E399*	MYLK3_uc010vge.1_Nonsense_Mutation_p.E58*|MYLK3_uc002eej.1_Nonsense_Mutation_p.E58*	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	399					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|protein phosphorylation|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)								207				0.444444	34.195762	34.268427	12	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46766387	46766387	10453	16	C	A	A	A	416	32	MYLK3	5	2
PHKB	5257	broad.mit.edu	37	16	47533764	47533764	+	Silent	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:47533764A>G	uc002eev.3	+	c.264A>G	c.(262-264)CTA>CTG	p.L88L	PHKB_uc010vgi.1_Silent_p.L81L|PHKB_uc002eeu.3_Silent_p.L81L	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	88					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)												0.277778	69.836708	73.835962	25	65	KEEP	---	---	---	---	capture		Silent	SNP	47533764	47533764	12269	16	A	G	G	G	197	16	PHKB	4	4
ZNF423	23090	broad.mit.edu	37	16	49671947	49671947	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:49671947G>T	uc002efs.2	-	c.1116C>A	c.(1114-1116)CCC>CCA	p.P372P	ZNF423_uc010vgn.1_Silent_p.P255P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	372					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)							p.P372P(MHHNB11-Tumor)	386				0.25	7.719537	8.401061	3	9	KEEP	---	---	---	---	capture		Silent	SNP	49671947	49671947	18491	16	G	T	T	T	496	39	ZNF423	1	1
SALL1	6299	broad.mit.edu	37	16	51172874	51172874	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51172874T>C	uc010vgs.1	-	c.3259A>G	c.(3259-3261)ACA>GCA	p.T1087A	SALL1_uc010vgr.1_Missense_Mutation_p.T990A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1087					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.346939	49.114968	50.14893	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51172874	51172874	14290	16	T	C	C	C	754	58	SALL1	4	4
LPCAT2	54947	broad.mit.edu	37	16	55565831	55565831	+	Silent	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55565831A>T	uc002eie.3	+	c.648A>T	c.(646-648)CTA>CTT	p.L216L	LPCAT2_uc002eic.2_5'Flank	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	216	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0														0.173077	18.643253	23.891166	9	43	KEEP	---	---	---	---	capture		Silent	SNP	55565831	55565831	9284	16	A	T	T	T	184	15	LPCAT2	3	3
CX3CL1	6376	broad.mit.edu	37	16	57416912	57416912	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57416912G>C	uc002eli.2	+	c.1162G>C	c.(1162-1164)GGT>CGT	p.G388R		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	388	Cytoplasmic (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														0.229885	46.095369	51.888648	20	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57416912	57416912	4234	16	G	C	C	C	611	47	CX3CL1	3	3
EXOC3L	283849	broad.mit.edu	37	16	67220986	67220986	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67220986C>G	uc002erx.1	-	c.1096G>C	c.(1096-1098)GAG>CAG	p.E366Q	EXOC3L_uc002erv.1_Non-coding_Transcript|EXOC3L_uc002erw.1_Missense_Mutation_p.E17Q|EXOC3L_uc002ery.1_Missense_Mutation_p.E310Q|EXOC3L_uc010vje.1_Missense_Mutation_p.E305Q	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	366	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)										0.391304	26.063245	26.303071	9	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67220986	67220986	5497	16	C	G	G	G	390	30	EXOC3L	3	3
ST3GAL2	6483	broad.mit.edu	37	16	70432294	70432295	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70432294_70432295CG>AA	uc002eyw.2	-	c.139_140CG>TT	c.(139-141)CGG>TTG	p.R47L	ST3GAL2_uc002eyx.2_Missense_Mutation_p.R47L	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	47	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)												0.5	18.250913	18.250913	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	70432294	70432295	15733	16	CG	AA	AA	AA	299	23	ST3GAL2	1	1
LDHD	197257	broad.mit.edu	37	16	75147927	75147927	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75147927C>A	uc002fdm.2	-	c.835G>T	c.(835-837)GTC>TTC	p.V279F	LDHD_uc002fdn.2_Missense_Mutation_p.V256F	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	279					oxidation-reduction process		D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0														0.2	7.116339	8.371914	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75147927	75147927	9027	16	C	A	A	A	221	17	LDHD	2	2
FOXL1	2300	broad.mit.edu	37	16	86612523	86612523	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:86612523C>T	uc002fjr.2	+	c.194C>T	c.(193-195)GCG>GTG	p.A65V		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	65	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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						NSCLC(163;308 2020 10889 11476 18208)								0.301887	41.383659	43.238909	16	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86612523	86612523	6262	16	C	T	T	T	351	27	FOXL1	1	1
DNAH9	1770	broad.mit.edu	37	17	11593663	11593663	+	Silent	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11593663C>G	uc002gne.2	+	c.4524C>G	c.(4522-4524)GTC>GTG	p.V1508V	DNAH9_uc010coo.2_Silent_p.V802V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1508	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)										0.626374	195.221517	196.514399	57	34	KEEP	---	---	---	---	capture		Silent	SNP	11593663	11593663	4791	17	C	G	G	G	366	29	DNAH9	3	3
HS3ST3B1	9953	broad.mit.edu	37	17	14205337	14205337	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:14205337G>T	uc002goh.1	+	c.502G>T	c.(502-504)GCC>TCC	p.A168S	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	168	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)										0.5	7.914096	7.914096	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14205337	14205337	7660	17	G	T	T	T	494	38	HS3ST3B1	1	1
LRRC48	83450	broad.mit.edu	37	17	17900918	17900918	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17900918G>T	uc010vxd.1	+	c.969G>T	c.(967-969)AAG>AAT	p.K323N	LRRC48_uc002gsa.2_Missense_Mutation_p.K323N|LRRC48_uc010vxc.1_Missense_Mutation_p.K323N|LRRC48_uc002gsb.2_Missense_Mutation_p.K323N|LRRC48_uc010vxe.1_Non-coding_Transcript	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	323						cytoplasm				pancreas(1)	1	all_neural(463;0.228)													0.5	9.124716	9.124716	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17900918	17900918	9380	17	G	T	T	T	425	33	LRRC48	2	2
PAFAH1B1	5048	broad.mit.edu	37	17	2583589	2583589	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:2583589G>T	uc002fuw.3	+	c.1134G>T	c.(1132-1134)GCG>GCT	p.A378A	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Silent_p.A173A	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	378	WD 7.|Interaction with DCX.|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity				0														0.112903	8.482603	17.650177	7	55	KEEP	---	---	---	---	capture		Silent	SNP	2583589	2583589	11800	17	G	T	T	T	483	38	PAFAH1B1	1	1
NF1	4763	broad.mit.edu	37	17	29654664	29654664	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29654664C>T	uc002hgg.2	+	c.5416C>T	c.(5416-5418)CAG>TAG	p.Q1806*	NF1_uc002hgh.2_Nonsense_Mutation_p.Q1785*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q818*|NF1_uc010cso.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1806					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			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)			0.310606	114.124663	118.343016	41	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29654664	29654664	10756	17	C	T	T	T	273	21	NF1	5	2
TMEM132E	124842	broad.mit.edu	37	17	32959924	32959924	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32959924C>G	uc002hif.2	+	c.1414C>G	c.(1414-1416)CGG>GGG	p.R472G		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	472	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.40625	75.746364	76.234469	26	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32959924	32959924	16580	17	C	G	G	G	295	23	TMEM132E	3	3
STARD3	10948	broad.mit.edu	37	17	37815776	37815776	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37815776G>T	uc002hsd.2	+	c.765G>T	c.(763-765)CAG>CAT	p.Q255H	STARD3_uc010weh.1_Non-coding_Transcript|STARD3_uc002hse.2_Missense_Mutation_p.Q237H|STARD3_uc010wei.1_Missense_Mutation_p.Q255H|STARD3_uc002hsf.2_Missense_Mutation_p.Q121H|STARD3_uc002hsg.2_Missense_Mutation_p.Q88H	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	255	START.|Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)							607				0.434783	29.445902	29.531302	10	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37815776	37815776	15776	17	G	T	T	T	451	35	STARD3	2	2
GRB7	2886	broad.mit.edu	37	17	37903138	37903138	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37903138G>A	uc002hsr.2	+	c.1587G>A	c.(1585-1587)CGG>CGA	p.R529R	GRB7_uc002hss.2_Silent_p.R529R|GRB7_uc010cwc.2_Silent_p.R529R|GRB7_uc002hst.2_3'UTR	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	529					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration	cytosol	SH3/SH2 adaptor activity			lung(2)|ovary(1)	3	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)							187				0.4	11.797339	11.88498	4	6	KEEP	---	---	---	---	capture		Silent	SNP	37903138	37903138	7036	17	G	A	A	A	548	43	GRB7	2	2
PSMD3	5709	broad.mit.edu	37	17	38140627	38140627	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38140627C>A	uc002htn.1	+	c.301C>A	c.(301-303)CTG>ATG	p.L101M	PSMD3_uc010wen.1_Intron|PSMD3_uc010weo.1_Missense_Mutation_p.L2M	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					Ovarian(186;531 2051 6385 19668 48409)								0.103448	1.902816	6.444854	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38140627	38140627	13152	17	C	A	A	A	363	28	PSMD3	2	2
KRT25	147183	broad.mit.edu	37	17	38907509	38907509	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38907509C>G	uc002hve.2	-	c.739G>C	c.(739-741)GAC>CAC	p.D247H		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	247	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)												0.191176	28.323873	34.408208	13	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38907509	38907509	8777	17	C	G	G	G	390	30	KRT25	3	3
KCNH4	23415	broad.mit.edu	37	17	40330185	40330185	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40330185C>T	uc002hzb.2	-	c.518G>A	c.(517-519)CGT>CAT	p.R173H		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	173	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		NSCLC(117;707 1703 2300 21308 31858)								0.289474	54.623298	57.640491	22	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40330185	40330185	8339	17	C	T	T	T	247	19	KCNH4	1	1
CNTNAP1	8506	broad.mit.edu	37	17	40839964	40839964	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40839964C>T	uc002iay.2	+	c.1271C>T	c.(1270-1272)GCG>GTG	p.A424V	CNTNAP1_uc010wgs.1_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	424	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)										0.1	2.774626	9.164271	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40839964	40839964	3784	17	C	T	T	T	351	27	CNTNAP1	1	1
IGF2BP1	10642	broad.mit.edu	37	17	47122408	47122408	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47122408C>T	uc002iom.2	+	c.1376C>T	c.(1375-1377)CCG>CTG	p.P459L	IGF2BP1_uc010dbj.2_Missense_Mutation_p.P320L	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	459	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				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)								0.12963	29.521614	51.104696	21	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47122408	47122408	7874	17	C	T	T	T	299	23	IGF2BP1	1	1
B4GALNT2	124872	broad.mit.edu	37	17	47243516	47243517	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47243516_47243517CC>AA	uc002ion.2	+	c.1175_1176CC>AA	c.(1174-1176)ACC>AAA	p.T392K	B4GALNT2_uc010wlt.1_Missense_Mutation_p.T306K|B4GALNT2_uc010wlu.1_Missense_Mutation_p.T332K	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	392	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GBM(124;244 1635 8663 18097 33175)								0.392857	33.719501	34.000745	11	17	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47243516	47243517	1288	17	CC	AA	AA	AA	234	18	B4GALNT2	2	2
SPAG9	9043	broad.mit.edu	37	17	49098727	49098727	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:49098727C>A	uc002itc.2	-	c.784_splice	c.e7-1	p.D262_splice	SPAG9_uc002itb.2_Splice_Site_SNP_p.D248_splice|SPAG9_uc002itd.2_Splice_Site_SNP_p.D248_splice|SPAG9_uc002itf.2_Splice_Site_SNP_p.D83_splice|SPAG9_uc002ita.2_Splice_Site_SNP_p.D105_splice|SPAG9_uc002ite.2_Splice_Site_SNP_p.D92_splice	NM_001130528	NP_001124000			sperm associated antigen 9 isoform 1						positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(1)	1			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)											0.333333	50.403423	51.806947	19	38	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	49098727	49098727	15488	17	C	A	A	A	312	24	SPAG9	5	2
NLRP1	22861	broad.mit.edu	37	17	5425044	5425044	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5425044C>G	uc002gci.2	-	c.3583G>C	c.(3583-3585)GAG>CAG	p.E1195Q	NLRP1_uc002gcg.1_Missense_Mutation_p.E1199Q|NLRP1_uc002gck.2_Missense_Mutation_p.E1195Q|NLRP1_uc002gcj.2_Missense_Mutation_p.E1165Q|NLRP1_uc002gcl.2_Missense_Mutation_p.E1165Q|NLRP1_uc002gch.3_Missense_Mutation_p.E1195Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1195					activation of caspase activity|defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|regulation of inflammatory response|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)								431				0.5625	84.322181	84.484927	27	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5425044	5425044	10874	17	C	G	G	G	390	30	NLRP1	3	3
SLC13A5	284111	broad.mit.edu	37	17	6610463	6610463	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6610463C>G	uc002gdj.2	-	c.115G>C	c.(115-117)GCC>CCC	p.A39P	SLC13A5_uc010vtf.1_Missense_Mutation_p.A39P|SLC13A5_uc010clq.2_Intron|SLC13A5_uc002gdk.2_Missense_Mutation_p.A39P|SLC13A5_uc002gdl.1_5'Flank	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	39						integral to membrane	citrate transmembrane transporter activity				0														0.697674	103.308114	104.86162	30	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6610463	6610463	14890	17	C	G	G	G	325	25	SLC13A5	3	3
CYGB	114757	broad.mit.edu	37	17	74533541	74533541	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74533541C>T	uc002jru.1	-	c.84G>A	c.(82-84)CAG>CAA	p.Q28Q	CYGB_uc002jrv.1_Intron|PRCD_uc002jrw.1_Intron|PRCD_uc002jrx.2_5'Flank	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	cytoglobin	28	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity				0														0.3	9.022108	9.378886	3	7	KEEP	---	---	---	---	capture		Silent	SNP	74533541	74533541	4304	17	C	T	T	T	311	24	CYGB	2	2
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	A	A	rs11540654		TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7579358C>A	uc002gim.2	-	c.329G>T	c.(328-330)CGT>CTT	p.R110L	TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	110	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and 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.R110L(20)|p.R110P(8)|p.0?(6)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)|p.R110H(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	p.R110L(SCABER-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.576642	264.251933	264.957609	79	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7579358	7579358	16923	17	C	A	A	A	247	19	TP53	1	1
PGS1	9489	broad.mit.edu	37	17	76396790	76396790	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76396790G>A	uc002jvm.2	+	c.734G>A	c.(733-735)CGC>CAC	p.R245H	PGS1_uc010wtt.1_Non-coding_Transcript|PGS1_uc010dho.2_Non-coding_Transcript|PGS1_uc002jvn.2_Intron|PGS1_uc002jvo.2_Non-coding_Transcript|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	245					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			Esophageal Squamous(45;182 1126 10685 43198)								0.270073	89.053174	95.564201	37	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76396790	76396790	12231	17	G	A	A	A	494	38	PGS1	1	1
NPLOC4	55666	broad.mit.edu	37	17	79580490	79580490	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79580490C>A	uc002kau.3	-	c.240G>T	c.(238-240)TCG>TCT	p.S80S	NPLOC4_uc002kat.3_Silent_p.S80S|NPLOC4_uc010wur.1_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	80					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)											0.342857	34.893515	35.65508	12	23	KEEP	---	---	---	---	capture		Silent	SNP	79580490	79580490	10991	17	C	A	A	A	392	31	NPLOC4	1	1
CCDC42	146849	broad.mit.edu	37	17	8644891	8644891	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8644891C>G	uc002gln.2	-	c.393G>C	c.(391-393)GAG>GAC	p.E131D	CCDC42_uc002glo.2_Missense_Mutation_p.E131D	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	131	Potential.									ovary(1)	1														0.666667	52.905159	53.494805	16	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8644891	8644891	2936	17	C	G	G	G	415	32	CCDC42	3	3
FAM38B	63895	broad.mit.edu	37	18	10675214	10675214	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:10675214A>G	uc002kor.3	-	c.1685T>C	c.(1684-1686)CTT>CCT	p.L562P	FAM38B_uc002koq.2_Missense_Mutation_p.L397P	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2605						integral to membrane	ion channel activity			ovary(1)	1														0.392157	62.681776	63.203113	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10675214	10675214	5776	18	A	G	G	G	39	3	FAM38B	4	4
ASXL3	80816	broad.mit.edu	37	18	31320076	31320076	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31320076A>T	uc010dmg.1	+	c.2708A>T	c.(2707-2709)CAG>CTG	p.Q903L	ASXL3_uc002kxq.2_Missense_Mutation_p.Q610L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.150538	25.186759	36.073899	14	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31320076	31320076	1087	18	A	T	T	T	91	7	ASXL3	3	3
DTNA	1837	broad.mit.edu	37	18	32335960	32335960	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32335960A>C	uc010dmn.1	+	c.20A>C	c.(19-21)AAA>ACA	p.K7T	DTNA_uc002kxu.2_Missense_Mutation_p.K7T|DTNA_uc010xbx.1_Missense_Mutation_p.K7T|DTNA_uc002kxv.3_Missense_Mutation_p.K7T|DTNA_uc002kxw.2_Missense_Mutation_p.K7T|DTNA_uc002kxx.2_Missense_Mutation_p.K7T|DTNA_uc010dmj.2_Missense_Mutation_p.K7T|DTNA_uc002kxz.2_Missense_Mutation_p.K7T|DTNA_uc002kxy.2_Missense_Mutation_p.K7T|DTNA_uc010dmk.1_Non-coding_Transcript|DTNA_uc010dml.2_Missense_Mutation_p.K7T|DTNA_uc002kyb.3_Missense_Mutation_p.K7T|DTNA_uc010dmm.2_Missense_Mutation_p.K7T	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	7	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.513514	63.826291	63.832175	19	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32335960	32335960	4973	18	A	C	C	C	13	1	DTNA	4	4
FHOD3	80206	broad.mit.edu	37	18	34298194	34298194	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34298194A>T	uc002kzs.1	+	c.2408A>T	c.(2407-2409)TAC>TTC	p.Y803F	FHOD3_uc002kzt.1_Missense_Mutation_p.Y786F|FHOD3_uc010dmz.1_Missense_Mutation_p.Y518F|FHOD3_uc010dna.1_Missense_Mutation_p.Y106F	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	786					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.192308	94.955756	115.633577	45	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34298194	34298194	6121	18	A	T	T	T	182	14	FHOD3	3	3
ZNF532	55205	broad.mit.edu	37	18	56651651	56651651	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56651651G>A	uc002lho.2	+	c.3859G>A	c.(3859-3861)GGC>AGC	p.G1287S	ZNF532_uc002lhp.2_Missense_Mutation_p.G1285S|ZNF532_uc010xeg.1_Missense_Mutation_p.G1285S|ZNF532_uc002lhr.2_Missense_Mutation_p.G1285S|ZNF532_uc002lhs.2_Missense_Mutation_p.G1285S|ZNF532_uc010xeh.1_Missense_Mutation_p.G375S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.186047	17.576965	21.546962	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56651651	56651651	18566	18	G	A	A	A	507	39	ZNF532	1	1
ENOSF1	55556	broad.mit.edu	37	18	691265	691265	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:691265C>A	uc010dkf.2	-	c.498G>T	c.(496-498)ATG>ATT	p.M166I	ENOSF1_uc002kkt.3_Missense_Mutation_p.M63I|ENOSF1_uc010dke.2_Non-coding_Transcript|ENOSF1_uc002kku.3_Missense_Mutation_p.M145I|ENOSF1_uc002kkv.3_Missense_Mutation_p.M145I|ENOSF1_uc002kkw.3_Intron|ENOSF1_uc002kkx.3_Intron|ENOSF1_uc010wyt.1_Non-coding_Transcript	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	rTS beta protein isoform rTS gamma	145					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1														0.333333	40.737859	41.770156	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	691265	691265	5318	18	C	A	A	A	325	25	ENOSF1	2	2
KIAA0802	23255	broad.mit.edu	37	18	8819248	8819248	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8819248C>T	uc002knr.2	+	c.3147C>T	c.(3145-3147)CGC>CGT	p.R1049R	KIAA0802_uc002knq.2_Silent_p.R1008R|KIAA0802_uc002kns.2_Silent_p.R389R	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	1359										ovary(6)|central_nervous_system(1)	7										468				0.459459	47.76656	47.819881	17	20	KEEP	---	---	---	---	capture		Silent	SNP	8819248	8819248	8501	18	C	T	T	T	327	26	KIAA0802	2	2
PDE4A	5141	broad.mit.edu	37	19	10565513	10565513	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10565513G>C	uc002moj.2	+	c.792G>C	c.(790-792)AGG>AGC	p.R264S	PDE4A_uc002mok.2_Missense_Mutation_p.R238S|PDE4A_uc002mol.2_Missense_Mutation_p.R203S|PDE4A_uc002mom.2_Missense_Mutation_p.R25S|PDE4A_uc002mon.2_5'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	264					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)									0.423358	193.25447	193.949881	58	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10565513	10565513	12060	19	G	C	C	C	529	41	PDE4A	3	3
MAN2B1	4125	broad.mit.edu	37	19	12760975	12760975	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12760975A>T	uc002mub.2	-	c.2108T>A	c.(2107-2109)CTG>CAG	p.L703Q	MAN2B1_uc010dyv.1_Missense_Mutation_p.L702Q	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	703					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6														0.5	98.098257	98.098257	32	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12760975	12760975	9599	19	A	T	T	T	91	7	MAN2B1	3	3
C19orf44	84167	broad.mit.edu	37	19	16611814	16611814	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16611814G>T	uc002neh.1	+	c.211G>T	c.(211-213)GGG>TGG	p.G71W	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.G71W|C19orf44_uc002neg.2_Missense_Mutation_p.G71W|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	71											0														0.534247	125.43112	125.506025	39	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16611814	16611814	1991	19	G	T	T	T	507	39	C19orf44	1	1
NWD1	284434	broad.mit.edu	37	19	16902383	16902383	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16902383C>A	uc002net.3	+	c.2758C>A	c.(2758-2760)CAG>AAG	p.Q920K	NWD1_uc002neu.3_Missense_Mutation_p.Q1055K|NWD1_uc002nev.3_Missense_Mutation_p.Q849K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1055	WD 6.						ATP binding			ovary(2)|pancreas(2)	4														0.103448	2.964751	7.451284	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16902383	16902383	11186	19	C	A	A	A	273	21	NWD1	2	2
SIN3B	23309	broad.mit.edu	37	19	16977262	16977262	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16977262G>A	uc002ney.1	+	c.1797G>A	c.(1795-1797)GCG>GCA	p.A599A	SIN3B_uc002nez.1_Silent_p.A567A|SIN3B_uc010xpi.1_Silent_p.A157A	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	599					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2														0.25	20.186481	22.00323	8	24	KEEP	---	---	---	---	capture		Silent	SNP	16977262	16977262	14821	19	G	A	A	A	509	40	SIN3B	1	1
USHBP1	83878	broad.mit.edu	37	19	17370140	17370140	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17370140C>T	uc002nfs.1	-	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R271Q|USHBP1_uc010eam.1_Missense_Mutation_p.R263Q	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	335							PDZ domain binding			ovary(1)	1														0.238095	11.664632	12.980502	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17370140	17370140	17599	19	C	T	T	T	299	23	USHBP1	1	1
ZNF253	56242	broad.mit.edu	37	19	20003006	20003006	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:20003006G>T	uc002noj.2	+	c.950G>T	c.(949-951)TGT>TTT	p.C317F	ZNF253_uc002nok.2_Missense_Mutation_p.C241F|ZNF253_uc002nol.2_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	317	C2H2-type 6.			Missing (in Ref. 1; AAC26844).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding				0														0.255814	29.704694	32.02994	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20003006	20003006	18388	19	G	T	T	T	624	48	ZNF253	2	2
ZNF430	80264	broad.mit.edu	37	19	21240404	21240404	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21240404A>T	uc002npj.2	+	c.1290A>T	c.(1288-1290)AAA>AAT	p.K430N	ZNF430_uc002npk.2_Missense_Mutation_p.K429N	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	430	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.435897	48.466121	48.606279	17	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21240404	21240404	18497	19	A	T	T	T	50	4	ZNF430	3	3
ZNF429	353088	broad.mit.edu	37	19	21720466	21720466	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21720466C>A	uc002nqd.1	+	c.1611C>A	c.(1609-1611)TAC>TAA	p.Y537*	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	537	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.133333	5.37744	9.294944	4	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21720466	21720466	18495	19	C	A	A	A	220	17	ZNF429	5	2
C19orf2	8725	broad.mit.edu	37	19	30499946	30499946	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30499946A>T	uc002nsr.2	+	c.721A>T	c.(721-723)ACG>TCG	p.T241S	C19orf2_uc002nsq.2_Missense_Mutation_p.T223S|C19orf2_uc002nss.2_Missense_Mutation_p.T201S|C19orf2_uc002nst.2_Missense_Mutation_p.T165S	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	241					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		Melanoma(75;661 1306 1472 28422 37948)								0.133333	11.760701	19.588437	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30499946	30499946	1973	19	A	T	T	T	182	14	C19orf2	3	3
TSHZ3	57616	broad.mit.edu	37	19	31768669	31768669	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768669C>A	uc002nsy.3	-	c.2030G>T	c.(2029-2031)GGG>GTG	p.G677V		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	677					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.409836	64.947611	65.384256	25	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768669	31768669	17176	19	C	A	A	A	286	22	TSHZ3	2	2
ZNF792	126375	broad.mit.edu	37	19	35449248	35449248	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35449248C>G	uc002nxh.1	-	c.1511G>C	c.(1510-1512)CGG>CCG	p.R504P		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GBM(1;7 183 21053 22581 22847)								0.265487	71.702572	77.31788	30	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35449248	35449248	18762	19	C	G	G	G	299	23	ZNF792	3	3
ATP4A	495	broad.mit.edu	37	19	36045890	36045890	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36045890G>T	uc002oal.1	-	c.2415C>A	c.(2413-2415)ATC>ATA	p.I805I	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	805	Lumenal (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)									0.288462	36.1018	38.189753	15	37	KEEP	---	---	---	---	capture		Silent	SNP	36045890	36045890	1164	19	G	T	T	T	577	45	ATP4A	2	2
CCDC97	90324	broad.mit.edu	37	19	41822539	41822539	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41822539G>T	uc002oqg.2	+	c.297G>T	c.(295-297)CTG>CTT	p.L99L	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	99											0														0.611111	35.628372	35.822928	11	7	KEEP	---	---	---	---	capture		Silent	SNP	41822539	41822539	3000	19	G	T	T	T	613	48	CCDC97	2	2
SEMA6B	10501	broad.mit.edu	37	19	4556051	4556051	+	Silent	SNP	C	A	A	rs73527729	by1000genomes	TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4556051C>A	uc010duc.1	-	c.420G>T	c.(418-420)ACG>ACT	p.T140T	SEMA6B_uc010dud.2_Silent_p.T140T|SEMA6B_uc010xih.1_Silent_p.T140T	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	140	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)										0.666667	60.986406	61.676807	18	9	KEEP	---	---	---	---	capture		Silent	SNP	4556051	4556051	14526	19	C	A	A	A	340	27	SEMA6B	1	1
CCDC155	147872	broad.mit.edu	37	19	49901271	49901271	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49901271A>G	uc002pnm.1	+	c.500A>G	c.(499-501)GAG>GGG	p.E167G	CCDC155_uc002pnl.1_Missense_Mutation_p.E167G|CCDC155_uc010emx.1_Missense_Mutation_p.E140G	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	167	Potential.					integral to membrane	calcium ion binding			ovary(1)	1														0.129032	5.376247	9.537555	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49901271	49901271	2910	19	A	G	G	G	143	11	CCDC155	4	4
NKG7	4818	broad.mit.edu	37	19	51875431	51875431	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51875431G>A	uc002pwj.2	-	c.288C>T	c.(286-288)ACC>ACT	p.T96T	NKG7_uc002pwk.2_Silent_p.T61T	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	96	Helical; (Potential).					integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.3125	37.106059	38.609454	15	33	KEEP	---	---	---	---	capture		Silent	SNP	51875431	51875431	10844	19	G	A	A	A	496	39	NKG7	1	1
FPR1	2357	broad.mit.edu	37	19	52250185	52250185	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52250185G>T	uc002pxq.2	-	c.63C>A	c.(61-63)GGC>GGA	p.G21G		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	21	Extracellular (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)									0.283951	55.619426	59.000949	23	58	KEEP	---	---	---	---	capture		Silent	SNP	52250185	52250185	6284	19	G	T	T	T	431	34	FPR1	2	2
OSCAR	126014	broad.mit.edu	37	19	54604075	54604075	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54604075C>A	uc002qdd.2	-	c.84G>T	c.(82-84)CTG>CTT	p.L28L	OSCAR_uc002qcy.2_Silent_p.L3L|OSCAR_uc002qcz.2_Silent_p.L3L|OSCAR_uc002qda.2_Silent_p.L3L|OSCAR_uc002qdb.2_Silent_p.L3L|OSCAR_uc010erc.2_5'UTR|OSCAR_uc002qdc.2_Silent_p.L28L|NDUFA3_uc002qde.2_5'Flank|NDUFA3_uc002qdf.2_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	osteoclast-associated receptor isoform 1	3						extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)											OREG0003681	type=REGULATORY REGION|Gene=AK130199|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.75	10.429076	10.654199	3	1	KEEP	---	---	---	---	capture		Silent	SNP	54604075	54604075	11696	19	C	A	A	A	262	21	OSCAR	2	2
ZNF549	256051	broad.mit.edu	37	19	58046558	58046558	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58046558A>T	uc002qpb.1	+	c.119A>T	c.(118-120)GAG>GTG	p.E40V	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Missense_Mutation_p.E40V|ZNF549_uc002qpa.1_Missense_Mutation_p.E27V	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.661417	251.213335	254.134469	84	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58046558	58046558	18576	19	A	T	T	T	143	11	ZNF549	3	3
EMR1	2015	broad.mit.edu	37	19	6921811	6921811	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6921811C>A	uc002mfw.2	+	c.1708C>A	c.(1708-1710)CTG>ATG	p.L570M	EMR1_uc010dvc.2_Missense_Mutation_p.L570M|EMR1_uc010dvb.2_Missense_Mutation_p.L518M|EMR1_uc010xji.1_Missense_Mutation_p.L429M|EMR1_uc010xjj.1_Missense_Mutation_p.L393M	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	570	GPS.|Extracellular (Potential).|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.523077	210.998285	211.058098	68	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6921811	6921811	5297	19	C	A	A	A	311	24	EMR1	2	2
MUC16	94025	broad.mit.edu	37	19	9074641	9074641	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9074641A>G	uc002mkp.2	-	c.12805T>C	c.(12805-12807)TCC>CCC	p.S4269P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4271	Thr-rich.|Extracellular (Potential).|Ser-rich.				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														0.067416	-6.525787	27.949117	12	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9074641	9074641	10367	19	A	G	G	G	156	12	MUC16	4	4
ZNF699	374879	broad.mit.edu	37	19	9406725	9406725	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9406725C>A	uc002mlc.1	-	c.1355G>T	c.(1354-1356)TGT>TTT	p.C452F		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	452	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.130435	4.708439	7.7644	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9406725	9406725	18696	19	C	A	A	A	221	17	ZNF699	2	2
COL11A1	1301	broad.mit.edu	37	1	103405970	103405970	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103405970C>A	uc001dum.2	-	c.3333G>T	c.(3331-3333)GGG>GGT	p.G1111G	COL11A1_uc001duk.2_Silent_p.G295G|COL11A1_uc001dul.2_Silent_p.G1099G|COL11A1_uc001dun.2_Silent_p.G1060G|COL11A1_uc009weh.2_Silent_p.G983G	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1099	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.093023	0.366496	7.535397	4	39	KEEP	---	---	---	---	capture		Silent	SNP	103405970	103405970	3805	1	C	A	A	A	327	26	COL11A1	2	2
COL11A1	1301	broad.mit.edu	37	1	103544265	103544265	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103544265G>A	uc001dum.2	-	c.437C>T	c.(436-438)CCT>CTT	p.P146L	COL11A1_uc001dul.2_Missense_Mutation_p.P146L|COL11A1_uc001dun.2_Missense_Mutation_p.P146L|COL11A1_uc009weh.2_Missense_Mutation_p.P146L	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	146	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.208333	21.520864	25.30532	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103544265	103544265	3805	1	G	A	A	A	455	35	COL11A1	2	2
KCND3	3752	broad.mit.edu	37	1	112524390	112524390	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112524390T>A	uc001ebu.1	-	c.959A>T	c.(958-960)GAA>GTA	p.E320V	KCND3_uc001ebv.1_Missense_Mutation_p.E320V	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	320	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)										0.222222	38.609611	44.358874	18	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112524390	112524390	8325	1	T	A	A	A	806	62	KCND3	3	3
PRAMEF1	65121	broad.mit.edu	37	1	12855647	12855647	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12855647C>A	uc001auj.1	+	c.927C>A	c.(925-927)GAC>GAA	p.D309E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	309											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.31746	107.688142	111.40357	40	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12855647	12855647	12861	1	C	A	A	A	220	17	PRAMEF1	2	2
PRAMEF4	400735	broad.mit.edu	37	1	12939641	12939641	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12939641G>T	uc001aun.2	-	c.1161C>A	c.(1159-1161)TTC>TTA	p.F387L		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	387	LRR 6.									ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.463415	380.220573	380.556844	133	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12939641	12939641	12877	1	G	T	T	T	425	33	PRAMEF4	2	2
FLG	2312	broad.mit.edu	37	1	152275520	152275520	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152275520C>A	uc001ezu.1	-	c.11842G>T	c.(11842-11844)GGC>TGC	p.G3948C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3948	Ser-rich.				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)											0.208054	71.848335	83.606546	31	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152275520	152275520	6160	1	C	A	A	A	273	21	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152279608	152279609	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152279608_152279609CC>AA	uc001ezu.1	-	c.7753_7754GG>TT	c.(7753-7755)GGG>TTG	p.G2585L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2585	Ser-rich.				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)											0.443299	257.941045	258.480763	86	108	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	152279608	152279609	6160	1	CC	AA	AA	AA	286	22	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152283465	152283465	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152283465C>T	uc001ezu.1	-	c.3897G>A	c.(3895-3897)CGG>CGA	p.R1299R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1299	Ser-rich.				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)											0.264423	140.440806	150.870127	55	153	KEEP	---	---	---	---	capture		Silent	SNP	152283465	152283465	6160	1	C	T	T	T	275	22	FLG	2	2
FLG2	388698	broad.mit.edu	37	1	152326871	152326871	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152326871G>T	uc001ezw.3	-	c.3391C>A	c.(3391-3393)CAT>AAT	p.H1131N		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1131	Ser-rich.|Filaggrin 4.						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)											0.220807	244.189265	277.962685	104	367	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152326871	152326871	6161	1	G	T	T	T	624	48	FLG2	2	2
FLG2	388698	broad.mit.edu	37	1	152327811	152327811	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152327811G>A	uc001ezw.3	-	c.2451C>T	c.(2449-2451)TCC>TCT	p.S817S		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	817	Ser-rich.						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)											0.128425	106.329861	184.798166	75	509	KEEP	---	---	---	---	capture		Silent	SNP	152327811	152327811	6161	1	G	A	A	A	496	39	FLG2	1	1
KCNN3	3782	broad.mit.edu	37	1	154744596	154744596	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154744596G>A	uc001ffp.2	-	c.1303C>T	c.(1303-1305)CGC>TGC	p.R435C	KCNN3_uc001ffo.2_Missense_Mutation_p.R130C|KCNN3_uc009wox.1_Missense_Mutation_p.R435C	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	440						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)											0.088889	1.07392	8.75074	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154744596	154744596	8385	1	G	A	A	A	507	39	KCNN3	1	1
UBQLN4	56893	broad.mit.edu	37	1	156011313	156011313	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156011313T>A	uc001fna.2	-	c.1616A>T	c.(1615-1617)CAG>CTG	p.Q539L	UBQLN4_uc010pgx.1_Missense_Mutation_p.Q519L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	539						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)	1	Hepatocellular(266;0.133)|all_neural(408;0.195)													0.204082	23.823578	27.804755	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156011313	156011313	17457	1	T	A	A	A	715	55	UBQLN4	3	3
OR10Z1	128368	broad.mit.edu	37	1	158576995	158576995	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158576995C>T	uc010pio.1	+	c.767C>T	c.(766-768)TCC>TTC	p.S256F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	256	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.119284	57.557339	129.519241	60	443	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158576995	158576995	11329	1	C	T	T	T	390	30	OR10Z1	2	2
OR6N1	128372	broad.mit.edu	37	1	158735630	158735630	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158735630G>T	uc010piq.1	-	c.843C>A	c.(841-843)CTC>CTA	p.L281L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.374613	664.437508	673.372432	242	404	KEEP	---	---	---	---	capture		Silent	SNP	158735630	158735630	11616	1	G	T	T	T	574	45	OR6N1	2	2
OR10J1	26476	broad.mit.edu	37	1	159410295	159410295	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159410295C>T	uc010piv.1	+	c.747C>T	c.(745-747)GCC>GCT	p.A249A		NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	249	Helical; Name=6; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.346939	102.721825	104.747992	34	64	KEEP	---	---	---	---	capture		Silent	SNP	159410295	159410295	11316	1	C	T	T	T	262	21	OR10J1	2	2
CRP	1401	broad.mit.edu	37	1	159683718	159683718	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159683718T>A	uc001ftw.2	-	c.272A>T	c.(271-273)TAC>TTC	p.Y91F	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	91	Pentaxin.			Missing (in Ref. 13; AA sequence).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)					63				0.466258	231.988917	232.149909	76	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159683718	159683718	4034	1	T	A	A	A	741	57	CRP	3	3
FCRL6	343413	broad.mit.edu	37	1	159779445	159779445	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159779445G>C	uc001fud.3	+	c.858G>C	c.(856-858)AGG>AGC	p.R286S	FCRL6_uc001fuc.2_Missense_Mutation_p.R293S|FCRL6_uc009wsz.1_Missense_Mutation_p.R191S|FCRL6_uc009wta.2_Missense_Mutation_p.R286S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	286	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	all_hematologic(112;0.0597)													0.386667	278.700943	281.223846	87	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159779445	159779445	6036	1	G	C	C	C	529	41	FCRL6	3	3
KCNJ10	3766	broad.mit.edu	37	1	160012018	160012018	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160012018G>C	uc001fuw.1	-	c.305C>G	c.(304-306)CCG>CGG	p.P102R		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	102	Extracellular (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GBM(167;1368 2014 14817 36425 43215)								0.4	298.678025	301.025916	108	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160012018	160012018	8349	1	G	C	C	C	507	39	KCNJ10	3	3
DDR2	4921	broad.mit.edu	37	1	162745598	162745598	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162745598C>A	uc001gcf.2	+	c.2013C>A	c.(2011-2013)CCC>CCA	p.P671P	DDR2_uc001gcg.2_Silent_p.P671P	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	671	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			NSCLC(161;314 2006 8283 19651 23192)				497				0.334975	186.644954	191.533161	68	135	KEEP	---	---	---	---	capture		Silent	SNP	162745598	162745598	4508	1	C	A	A	A	275	22	DDR2	2	2
RGS4	5999	broad.mit.edu	37	1	163039311	163039311	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163039311T>G	uc001gcl.3	+	c.328T>G	c.(328-330)TTG>GTG	p.L110V	RGS4_uc009wuy.2_Missense_Mutation_p.L13V|RGS4_uc009wuz.2_Missense_Mutation_p.L13V|RGS4_uc009wva.2_5'Flank	NM_001102445	NP_001095915	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 1	13					inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						Ovarian(76;1257 1738 3039 6086)						OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.313725	78.792868	81.985209	32	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163039311	163039311	13781	1	T	G	G	G	725	56	RGS4	4	4
DCAF6	55827	broad.mit.edu	37	1	167960554	167960554	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167960554G>A	uc001gex.2	+	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	DCAF6_uc001gev.2_Missense_Mutation_p.R222Q|DCAF6_uc001gew.2_Missense_Mutation_p.R222Q|DCAF6_uc010plk.1_Missense_Mutation_p.R191Q|DCAF6_uc001gey.2_Missense_Mutation_p.R75Q	NM_018442	NP_060912	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform a	222	WD 4.				positive regulation of transcription from RNA polymerase II promoter|protein ubiquitination	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)	2														0.227273	35.691537	40.196668	15	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167960554	167960554	4445	1	G	A	A	A	481	37	DCAF6	1	1
RC3H1	149041	broad.mit.edu	37	1	173939679	173939679	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173939679C>T	uc010pmt.1	-	c.1298G>A	c.(1297-1299)AGC>AAC	p.S433N	RC3H1_uc001gju.3_Missense_Mutation_p.S433N|RC3H1_uc010pms.1_Missense_Mutation_p.S433N|RC3H1_uc001gjv.2_Missense_Mutation_p.S433N	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	433	C3H1-type.					cytoplasm	RNA binding|zinc ion binding			ovary(2)	2														0.45	163.534122	163.795595	54	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173939679	173939679	13635	1	C	T	T	T	364	28	RC3H1	2	2
TNN	63923	broad.mit.edu	37	1	175049310	175049310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175049310C>T	uc001gkl.1	+	c.796C>T	c.(796-798)CAG>TAG	p.Q266*	TNN_uc010pmx.1_Nonsense_Mutation_p.Q266*	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	266	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.079365	-0.973221	10.406697	5	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175049310	175049310	16864	1	C	T	T	T	221	17	TNN	5	2
TNR	7143	broad.mit.edu	37	1	175293635	175293635	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175293635G>T	uc001gkp.1	-	c.3814C>A	c.(3814-3816)CAA>AAA	p.Q1272K	TNR_uc009wwu.1_Missense_Mutation_p.Q1272K	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1272	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.294922	394.398156	413.680874	151	361	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175293635	175293635	16879	1	G	T	T	T	585	45	TNR	2	2
RALGPS2	55103	broad.mit.edu	37	1	178753642	178753642	+	Silent	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178753642A>G	uc001glz.2	+	c.147A>G	c.(145-147)ACA>ACG	p.T49T	RALGPS2_uc001gly.1_Silent_p.T49T|RALGPS2_uc010pnb.1_Silent_p.T49T	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	49	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0														0.32	46.383885	47.822418	16	34	KEEP	---	---	---	---	capture		Silent	SNP	178753642	178753642	13478	1	A	G	G	G	67	6	RALGPS2	4	4
TOR3A	64222	broad.mit.edu	37	1	179064318	179064318	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179064318T>A	uc001gmd.2	+	c.1159T>A	c.(1159-1161)TCT>ACT	p.S387T	TOR3A_uc010pnd.1_Missense_Mutation_p.S171T	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	torsin family 3, member A precursor	387					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			pancreas(1)	1														0.160819	93.305228	130.767031	55	287	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179064318	179064318	16918	1	T	A	A	A	754	58	TOR3A	3	3
PRG4	10216	broad.mit.edu	37	1	186275564	186275564	+	Missense_Mutation	SNP	C	G	G	rs12128607	byFrequency;by1000genomes	TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186275564C>G	uc001gru.3	+	c.713C>G	c.(712-714)ACG>AGG	p.T238R	PRG4_uc001grt.3_Missense_Mutation_p.T197R|PRG4_uc009wyl.2_Missense_Mutation_p.T145R|PRG4_uc009wym.2_Missense_Mutation_p.T104R|PRG4_uc010poo.1_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	238					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity				0														0.051402	-21.38761	24.136106	11	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186275564	186275564	12924	1	C	G	G	G	247	19	PRG4	3	3
KCNT2	343450	broad.mit.edu	37	1	196309515	196309515	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196309515T>G	uc001gtd.1	-	c.1739A>C	c.(1738-1740)CAT>CCT	p.H580P	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.H530P|KCNT2_uc001gtf.1_Missense_Mutation_p.H580P|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.2_Missense_Mutation_p.H580P|KCNT2_uc001gth.1_Missense_Mutation_p.H101P	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	580	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														0.263473	124.822887	133.273423	44	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196309515	196309515	8397	1	T	G	G	G	663	51	KCNT2	4	4
TMEM9	252839	broad.mit.edu	37	1	201115898	201115898	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201115898C>A	uc010ppo.1	-	c.312G>T	c.(310-312)AGG>AGT	p.R104S	TMEM9_uc001gvw.2_Missense_Mutation_p.R79S|TMEM9_uc001gvx.2_Missense_Mutation_p.R79S|TMEM9_uc001gvy.2_Missense_Mutation_p.R79S|TMEM9_uc001gvz.2_Missense_Mutation_p.R82S|TMEM9_uc001gwa.2_Missense_Mutation_p.R79S|TMEM9_uc010ppp.1_Missense_Mutation_p.R79S	NM_016456	NP_057540	Q9P0T7	TMEM9_HUMAN	transmembrane protein 9 precursor	79	Extracellular (Potential).				transport	integral to membrane|late endosome membrane|lysosomal membrane					0		Breast(1374;0.000301)												0.16568	48.911042	66.821117	28	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201115898	201115898	16757	1	C	A	A	A	233	18	TMEM9	2	2
PKP1	5317	broad.mit.edu	37	1	201263122	201263122	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201263122G>T	uc001gwd.2	+	c.255G>T	c.(253-255)AGG>AGT	p.R85S	PKP1_uc001gwe.2_Missense_Mutation_p.R85S|PKP1_uc009wzm.2_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	85					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2														0.277778	11.265459	12.066741	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201263122	201263122	12409	1	G	T	T	T	529	41	PKP1	2	2
LGR6	59352	broad.mit.edu	37	1	202288055	202288055	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202288055A>T	uc001gxu.2	+	c.2624A>T	c.(2623-2625)GAT>GTT	p.D875V	LGR6_uc001gxv.2_Missense_Mutation_p.D823V|LGR6_uc009xab.2_Non-coding_Transcript|LGR6_uc001gxw.2_Missense_Mutation_p.D736V	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	875	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|pancreas(1)	8														0.15625	18.310724	25.528235	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202288055	202288055	9084	1	A	T	T	T	156	12	LGR6	3	3
PLEKHA6	22874	broad.mit.edu	37	1	204218035	204218035	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204218035C>T	uc001hau.2	-	c.1738G>A	c.(1738-1740)GCC>ACC	p.A580T		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	580										ovary(2)|pancreas(1)	3	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)											0.16	6.897732	9.638875	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204218035	204218035	12486	1	C	T	T	T	351	27	PLEKHA6	1	1
NFASC	23114	broad.mit.edu	37	1	204923420	204923420	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204923420G>T	uc001hbj.2	+	c.320G>T	c.(319-321)GGG>GTG	p.G107V	NFASC_uc001hbh.2_Missense_Mutation_p.G107V|NFASC_uc010pqz.1_Missense_Mutation_p.G101V|NFASC_uc010pra.1_Missense_Mutation_p.G101V|NFASC_uc001hbi.2_Missense_Mutation_p.G101V|NFASC_uc009xbg.1_Missense_Mutation_p.G174V|NFASC_uc010prb.1_Missense_Mutation_p.G101V|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	107	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)											0.54386	89.910491	90.004275	31	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204923420	204923420	10759	1	G	T	T	T	559	43	NFASC	2	2
USH2A	7399	broad.mit.edu	37	1	216246298	216246298	+	Silent	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216246298T>A	uc001hku.1	-	c.5790A>T	c.(5788-5790)CGA>CGT	p.R1930R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1930	Fibronectin type-III 5.|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)										0.32342	229.326238	236.774973	87	182	KEEP	---	---	---	---	capture		Silent	SNP	216246298	216246298	17598	1	T	A	A	A	691	54	USH2A	3	3
MARK1	4139	broad.mit.edu	37	1	220805569	220805569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220805569C>T	uc009xdw.2	+	c.1036C>T	c.(1036-1038)CGA>TGA	p.R346*	MARK1_uc001hmn.3_Nonsense_Mutation_p.R346*|MARK1_uc010pun.1_Nonsense_Mutation_p.R346*|MARK1_uc001hmm.3_Nonsense_Mutation_p.R324*	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	346	UBA.				intracellular protein kinase cascade|protein phosphorylation	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|central_nervous_system(2)|stomach(1)|lung(1)	7				GBM - Glioblastoma multiforme(131;0.0407)						258				0.21978	95.005756	108.165204	40	142	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	220805569	220805569	9695	1	C	T	T	T	243	19	MARK1	5	1
CDC42BPA	8476	broad.mit.edu	37	1	227219179	227219179	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227219179A>G	uc001hqr.2	-	c.3490T>C	c.(3490-3492)TGT>CGT	p.C1164R	CDC42BPA_uc001hqq.2_Missense_Mutation_p.C463R|CDC42BPA_uc001hqs.2_Missense_Mutation_p.C1083R|CDC42BPA_uc009xes.2_Missense_Mutation_p.C1136R|CDC42BPA_uc010pvs.1_Missense_Mutation_p.C1144R|CDC42BPA_uc001hqp.2_Missense_Mutation_p.C320R|CDC42BPA_uc001hqt.2_Missense_Mutation_p.C42R|CDC42BPA_uc001hqu.1_Missense_Mutation_p.C371R	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1177	PH.				actin cytoskeleton reorganization|intracellular signal transduction|protein phosphorylation	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|ovary(1)|pancreas(1)	10		all_cancers(173;0.156)|Prostate(94;0.0792)								1574				0.315789	165.952368	171.676196	60	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227219179	227219179	3200	1	A	G	G	G	104	8	CDC42BPA	4	4
SIPA1L2	57568	broad.mit.edu	37	1	232579424	232579424	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232579424G>T	uc001hvg.2	-	c.3361C>A	c.(3361-3363)CCC>ACC	p.P1121T	SIPA1L2_uc001hvf.2_Missense_Mutation_p.P195T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1121					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.350649	79.202483	80.717407	27	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232579424	232579424	14825	1	G	T	T	T	572	44	SIPA1L2	2	2
LYST	1130	broad.mit.edu	37	1	235904858	235904858	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235904858C>G	uc001hxj.2	-	c.8222G>C	c.(8221-8223)CGA>CCA	p.R2741P	LYST_uc009xga.1_Missense_Mutation_p.R377P	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2741					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)											0.145833	13.197251	18.982456	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235904858	235904858	9505	1	C	G	G	G	403	31	LYST	3	3
CHRM3	1131	broad.mit.edu	37	1	240072406	240072406	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240072406G>T	uc001hyp.2	+	c.1655G>T	c.(1654-1656)AGA>ATA	p.R552I		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	552	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.228571	34.960507	39.694259	16	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240072406	240072406	3512	1	G	T	T	T	429	33	CHRM3	2	2
MAP1LC3C	440738	broad.mit.edu	37	1	242159538	242159538	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242159538G>A	uc001hzk.2	-	c.371C>T	c.(370-372)ACA>ATA	p.T124I		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	124					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.5625	106.498651	106.715564	36	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242159538	242159538	9616	1	G	A	A	A	624	48	MAP1LC3C	2	2
CEP170	9859	broad.mit.edu	37	1	243362482	243362482	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:243362482G>A	uc001hzs.2	-	c.511C>T	c.(511-513)CCC>TCC	p.P171S	CEP170_uc001hzt.2_Missense_Mutation_p.P171S|CEP170_uc001hzu.2_Missense_Mutation_p.P171S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	171						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)											0.121212	9.551614	18.834304	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	243362482	243362482	3383	1	G	A	A	A	546	42	CEP170	2	2
OR2W5	441932	broad.mit.edu	37	1	247654449	247654449	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247654449G>A	uc001icz.1	+	c.20G>A	c.(19-21)AGT>AAT	p.S7N		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.295652	87.279632	91.593042	34	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247654449	247654449	11440	1	G	A	A	A	468	36	OR2W5	2	2
OR2C3	81472	broad.mit.edu	37	1	247695256	247695256	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695256C>T	uc009xgy.2	-	c.558G>A	c.(556-558)ATG>ATA	p.M186I	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,	186	Extracellular (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)											0.2	8.287871	9.96274	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247695256	247695256	11399	1	C	T	T	T	325	25	OR2C3	2	2
TRIM58	25893	broad.mit.edu	37	1	248039252	248039252	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248039252G>A	uc001ido.2	+	c.922G>A	c.(922-924)GCC>ACC	p.A308T	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	308	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.27907	87.965103	93.616442	36	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248039252	248039252	17077	1	G	A	A	A	494	38	TRIM58	1	1
OR2W3	343171	broad.mit.edu	37	1	248059191	248059191	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059191C>T	uc001idp.1	+	c.303C>T	c.(301-303)CTC>CTT	p.L101L	OR2W3_uc010pzb.1_Silent_p.L101L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.22069	73.281699	83.745909	32	113	KEEP	---	---	---	---	capture		Silent	SNP	248059191	248059191	11439	1	C	T	T	T	405	32	OR2W3	2	2
OR2M7	391196	broad.mit.edu	37	1	248487861	248487861	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248487861C>A	uc010pzk.1	-	c.10G>T	c.(10-12)GAG>TAG	p.E4*		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	4	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)											0.295918	214.600747	225.560287	87	207	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248487861	248487861	11420	1	C	A	A	A	390	30	OR2M7	5	2
OR2T10	127069	broad.mit.edu	37	1	248756858	248756858	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248756858A>T	uc010pzn.1	-	c.212T>A	c.(211-213)TTG>TAG	p.L71*		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	71	Helical; Name=2; (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)											0.25	33.049428	36.004351	13	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248756858	248756858	11423	1	A	T	T	T	65	5	OR2T10	5	3
COL16A1	1307	broad.mit.edu	37	1	32164183	32164183	+	Silent	SNP	C	T	T	rs76478494	by1000genomes	TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32164183C>T	uc001btk.1	-	c.291G>A	c.(289-291)CCG>CCA	p.P97P	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Silent_p.P97P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	97	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		Colon(143;498 1786 21362 25193 36625)								0.229508	32.025062	36.113451	14	47	KEEP	---	---	---	---	capture		Silent	SNP	32164183	32164183	3811	1	C	T	T	T	288	23	COL16A1	1	1
BAI2	576	broad.mit.edu	37	1	32222001	32222001	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32222001C>A	uc001btn.2	-	c.437G>T	c.(436-438)GGC>GTC	p.G146V	BAI2_uc010ogp.1_Missense_Mutation_p.G134V|BAI2_uc010ogq.1_Missense_Mutation_p.G146V|BAI2_uc001bto.2_Missense_Mutation_p.G146V|BAI2_uc001btq.1_Missense_Mutation_p.G134V|BAI2_uc010ogr.1_Missense_Mutation_p.G134V	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	146	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)										0.375	8.222962	8.33271	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32222001	32222001	1320	1	C	A	A	A	338	26	BAI2	2	2
CSF3R	1441	broad.mit.edu	37	1	36932411	36932411	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36932411G>T	uc001cax.1	-	c.2139C>A	c.(2137-2139)CCC>CCA	p.P713P	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Silent_p.P248P|CSF3R_uc009vvc.1_Silent_p.P215P|CSF3R_uc001cau.1_Silent_p.P86P|CSF3R_uc001cav.1_Silent_p.P686P|CSF3R_uc001caw.1_Silent_p.P686P|CSF3R_uc001cay.1_Missense_Mutation_p.P655Q	NM_156039	NP_724781	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform c	686	Cytoplasmic (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)					322				0.292683	63.277686	66.427525	24	58	KEEP	---	---	---	---	capture		Silent	SNP	36932411	36932411	4078	1	G	T	T	T	507	39	CSF3R	1	1
EPHA10	284656	broad.mit.edu	37	1	38227328	38227328	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38227328G>A	uc009vvi.2	-	c.599C>T	c.(598-600)GCG>GTG	p.A200V	EPHA10_uc001cbw.3_Missense_Mutation_p.A200V	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	200	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				0.147059	6.850827	10.929831	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38227328	38227328	5359	1	G	A	A	A	494	38	EPHA10	1	1
CC2D1B	200014	broad.mit.edu	37	1	52827271	52827271	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52827271G>C	uc001ctq.1	-	c.232C>G	c.(232-234)CAC>GAC	p.H78D	CC2D1B_uc001cts.2_5'Flank	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	78										ovary(1)	1														0.130435	4.008402	7.065056	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52827271	52827271	2847	1	G	C	C	C	611	47	CC2D1B	3	3
DHCR24	1718	broad.mit.edu	37	1	55319744	55319744	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55319744T>G	uc001cyc.1	-	c.1184A>C	c.(1183-1185)CAG>CCG	p.Q395P	DHCR24_uc010ooi.1_Missense_Mutation_p.Q38P|DHCR24_uc010ooj.1_Missense_Mutation_p.Q209P|DHCR24_uc010ook.1_Missense_Mutation_p.Q354P	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	395					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|oxidation-reduction process|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						Pancreas(39;516 1021 24601 30715 32780)								0.275	26.806795	28.631371	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55319744	55319744	4655	1	T	G	G	G	715	55	DHCR24	4	4
LEPROT	54741	broad.mit.edu	37	1	65895708	65895708	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65895708G>T	uc009wap.2	+	c.283G>T	c.(283-285)GTT>TTT	p.V95F	LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc001dcf.2_Missense_Mutation_p.V86F	NM_017526	NP_059996	O15243	OBRG_HUMAN	leptin receptor gene-related protein	86	Helical; (Potential).					endosome membrane|Golgi membrane|integral to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)										0.21645	119.466871	136.674882	50	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65895708	65895708	9056	1	G	T	T	T	624	48	LEPROT	2	2
C1orf141	400757	broad.mit.edu	37	1	67558976	67558976	+	Silent	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67558976T>A	uc001ddl.1	-	c.915A>T	c.(913-915)ACA>ACT	p.T305T	C1orf141_uc001ddm.1_Silent_p.T305T|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	305										ovary(1)	1														0.24	31.777839	34.860726	12	38	KEEP	---	---	---	---	capture		Silent	SNP	67558976	67558976	2068	1	T	A	A	A	756	59	C1orf141	3	3
LHX8	431707	broad.mit.edu	37	1	75602868	75602868	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75602868C>T	uc001dgo.2	+	c.189C>T	c.(187-189)GCC>GCT	p.A63A	LHX8_uc001dgq.2_Silent_p.A2A	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	63					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(3)	3														0.3	8.833345	9.183749	3	7	KEEP	---	---	---	---	capture		Silent	SNP	75602868	75602868	9102	1	C	T	T	T	301	24	LHX8	2	2
LHX8	431707	broad.mit.edu	37	1	75606693	75606693	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75606693C>A	uc001dgo.2	+	c.291C>A	c.(289-291)GTC>GTA	p.V97V	LHX8_uc001dgq.2_Silent_p.V36V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	97	LIM zinc-binding 1.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(3)	3														0.40625	35.666417	35.91273	13	19	KEEP	---	---	---	---	capture		Silent	SNP	75606693	75606693	9102	1	C	A	A	A	379	30	LHX8	2	2
SLC44A5	204962	broad.mit.edu	37	1	75699718	75699718	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75699718C>A	uc010oqz.1	-	c.923G>T	c.(922-924)TGC>TTC	p.C308F	SLC44A5_uc001dgt.2_Missense_Mutation_p.C269F|SLC44A5_uc001dgs.2_Missense_Mutation_p.C227F|SLC44A5_uc001dgr.2_Missense_Mutation_p.C227F|SLC44A5_uc001dgu.2_Missense_Mutation_p.C269F|SLC44A5_uc010ora.1_Missense_Mutation_p.C263F|SLC44A5_uc010orb.1_Missense_Mutation_p.C139F	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform B	269	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.21875	66.728712	76.059799	28	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75699718	75699718	15136	1	C	A	A	A	325	25	SLC44A5	2	2
CLSTN1	22883	broad.mit.edu	37	1	9811657	9811657	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9811657C>T	uc001aqh.2	-	c.523G>A	c.(523-525)GAG>AAG	p.E175K	CLSTN1_uc001aqi.2_Missense_Mutation_p.E165K|CLSTN1_uc010oag.1_Missense_Mutation_p.E175K	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	175	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding				0	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)										0.25	12.265162	13.401623	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9811657	9811657	3699	1	C	T	T	T	403	31	CLSTN1	1	1
SIRPD	128646	broad.mit.edu	37	20	1532360	1532360	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1532360C>G	uc002wfi.2	-	c.398G>C	c.(397-399)CGG>CCG	p.R133P		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	signal-regulatory protein delta precursor	133	Ig-like V-type.					extracellular region				ovary(1)|kidney(1)|skin(1)	3														0.444444	136.063209	136.356438	48	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1532360	1532360	14830	20	C	G	G	G	299	23	SIRPD	3	3
C20orf72	92667	broad.mit.edu	37	20	17950904	17950904	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:17950904C>A	uc002wqh.2	+	c.402C>A	c.(400-402)ACC>ACA	p.T134T	C20orf72_uc010gco.2_Non-coding_Transcript|C20orf72_uc010gcp.2_Intron|SNX5_uc002wqc.2_5'Flank|SNX5_uc002wqd.2_5'Flank|SNX5_uc002wqe.2_5'Flank|SNX5_uc010zrt.1_5'Flank|SNX5_uc010gcn.1_5'Flank	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	134											0														0.086207	-0.172439	9.900233	5	53	KEEP	---	---	---	---	capture		Silent	SNP	17950904	17950904	2198	20	C	A	A	A	275	22	C20orf72	2	2
SIRPA	140885	broad.mit.edu	37	20	1902071	1902071	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1902071C>A	uc002wft.2	+	c.467C>A	c.(466-468)CCT>CAT	p.P156H	SIRPA_uc002wfq.2_Missense_Mutation_p.P156H|SIRPA_uc010zps.1_Missense_Mutation_p.P136H|SIRPA_uc002wfr.2_Missense_Mutation_p.P156H|SIRPA_uc002wfs.2_Missense_Mutation_p.P156H	NM_080792	NP_542970	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	156	Ig-like C1-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GBM(155;1668 1920 5945 42733 48121)								0.153846	6.182012	9.162407	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1902071	1902071	14827	20	C	A	A	A	312	24	SIRPA	2	2
PLK1S1	55857	broad.mit.edu	37	20	21142700	21142700	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:21142700C>T	uc002wsb.2	+	c.594C>T	c.(592-594)GCC>GCT	p.A198A	PLK1S1_uc010zsh.1_Silent_p.A95A|PLK1S1_uc010zsi.1_Silent_p.A65A|PLK1S1_uc010zsj.1_Non-coding_Transcript|PLK1S1_uc002wsd.2_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	polo-like kinase 1 substrate 1 isoform 1	198					spindle organization	centrosome	protein kinase binding				0														0.442105	127.980724	128.249414	42	53	KEEP	---	---	---	---	capture		Silent	SNP	21142700	21142700	12521	20	C	T	T	T	275	22	PLK1S1	2	2
CST9	128822	broad.mit.edu	37	20	23584161	23584161	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23584161C>A	uc002wtl.2	-	c.466G>T	c.(466-468)GAC>TAC	p.D156Y		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	cystatin 9 precursor	156						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)													0.392157	53.084337	53.604827	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23584161	23584161	4120	20	C	A	A	A	390	30	CST9	2	2
XKR7	343702	broad.mit.edu	37	20	30584859	30584859	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30584859G>T	uc002wxe.2	+	c.1339G>T	c.(1339-1341)GGT>TGT	p.G447C		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	447						integral to membrane				ovary(1)|breast(1)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.179487	14.200797	17.970371	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30584859	30584859	18017	20	G	T	T	T	559	43	XKR7	2	2
NCOA6	23054	broad.mit.edu	37	20	33329685	33329685	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33329685T>C	uc002xav.2	-	c.4375A>G	c.(4375-4377)AAA>GAA	p.K1459E	NCOA6_uc002xaw.2_Missense_Mutation_p.K1459E	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1459					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.305556	51.683876	54.137835	22	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33329685	33329685	10632	20	T	C	C	C	819	63	NCOA6	4	4
GGT7	2686	broad.mit.edu	37	20	33444618	33444618	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33444618C>A	uc002xay.2	-	c.1093G>T	c.(1093-1095)GTG>TTG	p.V365L	GGT7_uc002xaz.1_Missense_Mutation_p.V382L	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	365	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1														0.25	7.519792	8.201252	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33444618	33444618	6632	20	C	A	A	A	247	19	GGT7	1	1
EPB41L1	2036	broad.mit.edu	37	20	34778240	34778240	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34778240C>T	uc002xfb.2	+	c.1068C>T	c.(1066-1068)AAC>AAT	p.N356N	EPB41L1_uc002xeu.2_Silent_p.N294N|EPB41L1_uc010zvo.1_Silent_p.N356N|EPB41L1_uc002xev.2_Silent_p.N356N|EPB41L1_uc002xew.2_Silent_p.N259N|EPB41L1_uc002xex.2_Silent_p.N325N|EPB41L1_uc002xey.2_Silent_p.N283N|EPB41L1_uc002xez.2_Silent_p.N294N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	356	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)													0.206349	27.53726	32.576123	13	50	KEEP	---	---	---	---	capture		Silent	SNP	34778240	34778240	5345	20	C	T	T	T	233	18	EPB41L1	2	2
CD40	958	broad.mit.edu	37	20	44757607	44757607	+	Silent	SNP	T	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44757607T>G	uc002xrg.1	+	c.762T>G	c.(760-762)ACT>ACG	p.T254T	CD40_uc002xrh.1_3'UTR|CD40_uc002xri.1_3'UTR|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript|CD40_uc002xrl.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	254	Cytoplasmic (Potential).				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)					521		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.328125	55.25017	56.928175	21	43	KEEP	---	---	---	---	capture		Silent	SNP	44757607	44757607	3143	20	T	G	G	G	717	56	CD40	4	4
CDH22	64405	broad.mit.edu	37	20	44879714	44879714	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44879714C>G	uc002xrm.2	-	c.220G>C	c.(220-222)GAG>CAG	p.E74Q	CDH22_uc010ghk.1_Missense_Mutation_p.E74Q	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	74	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4		Myeloproliferative disorder(115;0.0122)												0.083333	1.097651	7.448384	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44879714	44879714	3236	20	C	G	G	G	390	30	CDH22	3	3
DIDO1	11083	broad.mit.edu	37	20	61542314	61542314	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61542314C>A	uc002ydr.1	-	c.651G>T	c.(649-651)CAG>CAT	p.Q217H	DIDO1_uc002yds.1_Missense_Mutation_p.Q217H|DIDO1_uc002ydt.1_Missense_Mutation_p.Q217H|DIDO1_uc002ydu.1_Missense_Mutation_p.Q217H|DIDO1_uc002ydv.1_Missense_Mutation_p.Q217H|DIDO1_uc002ydw.1_Missense_Mutation_p.Q217H|DIDO1_uc002ydx.1_Missense_Mutation_p.Q217H|DIDO1_uc011aao.1_Missense_Mutation_p.Q217H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	217					apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.179487	14.201638	17.970537	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61542314	61542314	4701	20	C	A	A	A	311	24	DIDO1	2	2
PLCB1	23236	broad.mit.edu	37	20	8637933	8637933	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8637933T>C	uc002wnb.2	+	c.695_splice	c.e8+2	p.F232_splice	PLCB1_uc010zrb.1_Splice_Site_SNP_p.F131_splice|PLCB1_uc002wna.2_Splice_Site_SNP_p.F232_splice|PLCB1_uc002wnc.1_Splice_Site_SNP_p.F131_splice	NM_015192	NP_056007			phosphoinositide-specific phospholipase C beta 1						activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.138462	13.731283	21.956951	9	56	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	8637933	8637933	12453	20	T	C	C	C	741	57	PLCB1	5	4
NRIP1	8204	broad.mit.edu	37	21	16340221	16340221	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:16340221C>T	uc002yjx.2	-	c.293G>A	c.(292-294)CGG>CAG	p.R98Q		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	98	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)										0.205882	30.820389	36.269399	14	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16340221	16340221	11057	21	C	T	T	T	299	23	NRIP1	1	1
CLDN17	26285	broad.mit.edu	37	21	31538874	31538874	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31538874G>T	uc011acv.1	-	c.62C>A	c.(61-63)ACT>AAT	p.T21N		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	21	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2														0.170732	41.438897	54.019091	21	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31538874	31538874	3614	21	G	T	T	T	468	36	CLDN17	2	2
KRTAP24-1	643803	broad.mit.edu	37	21	31654512	31654512	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31654512C>A	uc002ynv.2	-	c.739G>T	c.(739-741)GGT>TGT	p.G247C		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	247	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].|6.					keratin filament	structural molecule activity				0														0.347518	140.026678	142.922912	49	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31654512	31654512	8863	21	C	A	A	A	273	21	KRTAP24-1	2	2
BACE2	25825	broad.mit.edu	37	21	42647496	42647496	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42647496G>T	uc002yyw.2	+	c.1502G>T	c.(1501-1503)CGT>CTT	p.R501L	BACE2_uc002yyx.2_Missense_Mutation_p.R451L|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_Non-coding_Transcript	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	501	Cytoplasmic (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)												0.381818	62.175559	62.844017	21	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42647496	42647496	1303	21	G	T	T	T	520	40	BACE2	1	1
CCT8L2	150160	broad.mit.edu	37	22	17072422	17072422	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072422G>T	uc002zlp.1	-	c.1019C>A	c.(1018-1020)CCT>CAT	p.P340H		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	340					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.396226	58.261624	58.761552	21	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17072422	17072422	3088	22	G	T	T	T	455	35	CCT8L2	2	2
CLTCL1	8218	broad.mit.edu	37	22	19210312	19210312	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19210312C>A	uc002zpb.2	-	c.2313G>T	c.(2311-2313)CAG>CAT	p.Q771H	CLTCL1_uc011agv.1_Missense_Mutation_p.Q771H|CLTCL1_uc011agw.1_Missense_Mutation_p.Q771H	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	771	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)									1206				0.625	31.352746	31.571907	10	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19210312	19210312	3705	22	C	A	A	A	363	28	CLTCL1	2	2
MYO18B	84700	broad.mit.edu	37	22	26181403	26181403	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26181403T>A	uc003abz.1	+	c.2321T>A	c.(2320-2322)CTG>CAG	p.L774Q	MYO18B_uc003aca.1_Missense_Mutation_p.L655Q|MYO18B_uc010guy.1_Missense_Mutation_p.L655Q|MYO18B_uc010guz.1_Missense_Mutation_p.L655Q|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.L287Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	774	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				0.387097	70.686232	71.378616	24	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26181403	26181403	10461	22	T	A	A	A	715	55	MYO18B	3	3
GTSE1	51512	broad.mit.edu	37	22	46704789	46704789	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46704789G>T	uc011aqy.1	+	c.711G>T	c.(709-711)CTG>CTT	p.L237L	GTSE1_uc011aqz.1_Silent_p.L84L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	218					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GBM(153;542 1915 12487 29016 50495)				471				0.208333	8.433419	10.364465	5	19	KEEP	---	---	---	---	capture		Silent	SNP	46704789	46704789	7165	22	G	T	T	T	587	46	GTSE1	2	2
MAP3K2	10746	broad.mit.edu	37	2	128087548	128087548	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128087548A>C	uc002toj.1	-	c.415T>G	c.(415-417)TTG>GTG	p.L139V	MAP3K2_uc010flz.1_Missense_Mutation_p.L139V	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	139					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)						211				0.221053	53.322998	60.130933	21	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128087548	128087548	9633	2	A	C	C	C	11	1	MAP3K2	4	4
POTEE	445582	broad.mit.edu	37	2	132021524	132021524	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132021524G>T	uc002tsn.2	+	c.2496G>T	c.(2494-2496)ATG>ATT	p.M832I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.M432I|POTEE_uc002tsl.2_Missense_Mutation_p.M414I|POTEE_uc010fmy.1_Missense_Mutation_p.M296I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	832	Actin-like.						ATP binding				0														0.298507	109.047351	113.910225	40	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132021524	132021524	12694	2	G	T	T	T	624	48	POTEE	2	2
THSD7B	80731	broad.mit.edu	37	2	138169324	138169324	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:138169324C>G	uc002tva.1	+	c.2748C>G	c.(2746-2748)CAC>CAG	p.H916Q	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.H806Q	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.157692	84.106898	113.15885	41	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138169324	138169324	16408	2	C	G	G	G	233	18	THSD7B	3	3
LRP1B	53353	broad.mit.edu	37	2	141812825	141812825	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141812825C>A	uc002tvj.1	-	c.1412G>T	c.(1411-1413)AGA>ATA	p.R471I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	471	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.367521	118.587809	120.395394	43	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141812825	141812825	9328	2	C	A	A	A	416	32	LRP1B	2	2
NEB	4703	broad.mit.edu	37	2	152522011	152522011	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152522011C>T	uc010fnx.2	-	c.5074G>A	c.(5074-5076)GGC>AGC	p.G1692S		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1692	Nebulin 44.				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)										0.258065	20.087141	21.731026	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152522011	152522011	10701	2	C	T	T	T	299	23	NEB	1	1
NEB	4703	broad.mit.edu	37	2	152541305	152541305	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152541305G>A	uc010fnx.2	-	c.2822C>T	c.(2821-2823)GCG>GTG	p.A941V		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	941	Nebulin 22.				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)										0.178218	35.994265	45.836227	18	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152541305	152541305	10701	2	G	A	A	A	494	38	NEB	1	1
GALNT13	114805	broad.mit.edu	37	2	155115588	155115588	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155115588G>T	uc002tyt.3	+	c.912G>T	c.(910-912)GAG>GAT	p.E304D	GALNT13_uc002tyr.3_Missense_Mutation_p.E304D|GALNT13_uc010foc.1_Missense_Mutation_p.E123D|GALNT13_uc010fod.2_Missense_Mutation_p.E57D	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	304	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)	5														0.356164	138.549736	141.214575	52	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155115588	155115588	6475	2	G	T	T	T	425	33	GALNT13	2	2
XIRP2	129446	broad.mit.edu	37	2	168099943	168099943	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168099943A>C	uc002udx.2	+	c.2041A>C	c.(2041-2043)AGT>CGT	p.S681R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S506R|XIRP2_uc010fpq.2_Missense_Mutation_p.S459R|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	506					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.211679	61.394952	71.931696	29	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168099943	168099943	18011	2	A	C	C	C	91	7	XIRP2	4	4
EVX2	344191	broad.mit.edu	37	2	176948324	176948324	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176948324C>T	uc010zeu.1	-	c.181G>A	c.(181-183)GCT>ACT	p.A61T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	61					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)										0.24	12.764444	14.289354	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176948324	176948324	5488	2	C	T	T	T	351	27	EVX2	1	1
HOXD3	3232	broad.mit.edu	37	2	177033966	177033966	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:177033966G>A	uc002ukt.1	+	c.124G>A	c.(124-126)GGC>AGC	p.G42S		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	42					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|regulation of transcription, DNA-dependent|thyroid gland development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)										0.395833	55.41307	55.869264	19	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177033966	177033966	7615	2	G	A	A	A	507	39	HOXD3	1	1
NFE2L2	4780	broad.mit.edu	37	2	178096096	178096096	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178096096C>A	uc002ulh.3	-	c.1235G>T	c.(1234-1236)GGG>GTG	p.G412V	NFE2L2_uc002ulg.3_Missense_Mutation_p.G396V|NFE2L2_uc010zfa.1_Missense_Mutation_p.G389V|NFE2L2_uc002uli.3_Missense_Mutation_p.G396V	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	412					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)											0.378571	150.161073	151.927268	53	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178096096	178096096	10768	2	C	A	A	A	286	22	NFE2L2	2	2
COL5A2	1290	broad.mit.edu	37	2	189957113	189957113	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189957113G>T	uc002uqk.2	-	c.490C>A	c.(490-492)CCA>ACA	p.P164T		NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	164					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.30303	28.244125	29.383127	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189957113	189957113	3835	2	G	T	T	T	572	44	COL5A2	2	2
RFTN2	130132	broad.mit.edu	37	2	198498522	198498522	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198498522T>A	uc002uuo.3	-	c.638A>T	c.(637-639)GAA>GTA	p.E213V		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	213						plasma membrane					0														0.15	26.783293	40.873788	18	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198498522	198498522	13731	2	T	A	A	A	806	62	RFTN2	3	3
TRAK2	66008	broad.mit.edu	37	2	202254176	202254176	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202254176C>G	uc002uyb.3	-	c.1244G>C	c.(1243-1245)CGG>CCG	p.R415P		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	415	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0														0.222222	32.555163	37.000416	14	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202254176	202254176	16994	2	C	G	G	G	299	23	TRAK2	3	3
ALS2CR8	79800	broad.mit.edu	37	2	203831748	203831748	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:203831748G>T	uc002uzo.2	+	c.880G>T	c.(880-882)GGT>TGT	p.G294C	ALS2CR8_uc010zhy.1_3'UTR|ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.G218C|ALS2CR8_uc010zib.1_Missense_Mutation_p.G218C|ALS2CR8_uc010zic.1_Missense_Mutation_p.G206C|ALS2CR8_uc002uzp.2_Missense_Mutation_p.G294C	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	294										large_intestine(1)|ovary(1)	2														0.073394	-5.593102	14.842316	8	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203831748	203831748	558	2	G	T	T	T	455	35	ALS2CR8	2	2
CPS1	1373	broad.mit.edu	37	2	211465284	211465284	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211465284G>C	uc010fur.2	+	c.1573G>C	c.(1573-1575)GAA>CAA	p.E525Q	CPS1_uc002vee.3_Missense_Mutation_p.E519Q|CPS1_uc010fus.2_Missense_Mutation_p.E68Q	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	519					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.105263	11.383024	26.091858	10	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211465284	211465284	3961	2	G	C	C	C	533	41	CPS1	3	3
ABCA12	26154	broad.mit.edu	37	2	215843639	215843639	+	Silent	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215843639T>C	uc002vew.2	-	c.4866A>G	c.(4864-4866)CCA>CCG	p.P1622P	ABCA12_uc002vev.2_Silent_p.P1304P|ABCA12_uc010zjn.1_Silent_p.P549P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1622					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)								0.05	-16.149062	9.639276	6	114	KEEP	---	---	---	---	capture		Silent	SNP	215843639	215843639	31	2	T	C	C	C	652	51	ABCA12	4	4
CCDC108	255101	broad.mit.edu	37	2	219892638	219892638	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219892638G>A	uc002vjl.1	-	c.1945C>T	c.(1945-1947)CCG>TCG	p.P649S	CCDC108_uc010fwa.1_Missense_Mutation_p.P92S|CCDC108_uc010zkp.1_Missense_Mutation_p.P638S|CCDC108_uc010zkq.1_Missense_Mutation_p.P584S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	649						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.30303	26.849873	27.985694	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219892638	219892638	2863	2	G	A	A	A	559	43	CCDC108	2	2
SERPINE2	5270	broad.mit.edu	37	2	224866368	224866368	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:224866368C>T	uc010zlr.1	-	c.286G>A	c.(286-288)GGC>AGC	p.G96S	SERPINE2_uc002vnt.2_Missense_Mutation_p.G84S|SERPINE2_uc002vnu.2_Missense_Mutation_p.G84S|SERPINE2_uc002vnv.2_Missense_Mutation_p.G84S	NM_001136530	NP_001130002	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	84					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)										0.173469	36.630647	46.483158	17	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	224866368	224866368	14600	2	C	T	T	T	299	23	SERPINE2	1	1
DOCK10	55619	broad.mit.edu	37	2	225658116	225658116	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225658116C>A	uc010fwz.1	-	c.5212_splice	c.e46+1	p.G1738_splice	DOCK10_uc002vob.2_Splice_Site_SNP_p.G1732_splice|DOCK10_uc002voa.2_Splice_Site_SNP_p.G394_splice|DOCK10_uc002voc.2_Splice_Site_SNP_p.G592_splice	NM_014689	NP_055504			dedicator of cytokinesis 10								GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.296875	54.299661	56.661047	19	45	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	225658116	225658116	4869	2	C	A	A	A	234	18	DOCK10	5	2
CHRND	1144	broad.mit.edu	37	2	233394818	233394818	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233394818G>T	uc002vsw.2	+	c.789G>T	c.(787-789)ATG>ATT	p.M263I	CHRND_uc010zmg.1_Missense_Mutation_p.M248I|CHRND_uc010fyc.2_Missense_Mutation_p.M136I|CHRND_uc010zmh.1_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	263	Helical; (Potential).				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)										0.285714	21.489017	22.642418	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233394818	233394818	3528	2	G	T	T	T	611	47	CHRND	2	2
TRPM8	79054	broad.mit.edu	37	2	234873364	234873364	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234873364C>T	uc002vvh.2	+	c.1842C>T	c.(1840-1842)TCC>TCT	p.S614S	TRPM8_uc010fyj.2_Silent_p.S302S	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	614	Cytoplasmic (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)					505				0.277778	26.645552	28.238366	10	26	KEEP	---	---	---	---	capture		Silent	SNP	234873364	234873364	17143	2	C	T	T	T	288	23	TRPM8	1	1
TRPM8	79054	broad.mit.edu	37	2	234878399	234878399	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234878399A>T	uc002vvh.2	+	c.2086A>T	c.(2086-2088)ATC>TTC	p.I696F	TRPM8_uc010fyj.2_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	696	Helical; Name=1; (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)					505				0.204918	59.718938	69.563977	25	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234878399	234878399	17143	2	A	T	T	T	208	16	TRPM8	3	3
PLB1	151056	broad.mit.edu	37	2	28804980	28804980	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28804980C>A	uc002rmb.1	+	c.1612C>A	c.(1612-1614)CTG>ATG	p.L538M	PLB1_uc010ezj.1_Intron|PLB1_uc002rmc.2_Missense_Mutation_p.L226M|PLB1_uc002rmd.1_Missense_Mutation_p.L48M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	538	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				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)													0.469136	115.245128	115.312045	38	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28804980	28804980	12450	2	C	A	A	A	311	24	PLB1	2	2
LTBP1	4052	broad.mit.edu	37	2	33482545	33482545	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33482545C>G	uc002ros.2	+	c.2362C>G	c.(2362-2364)CGG>GGG	p.R788G	LTBP1_uc002rot.2_Missense_Mutation_p.R462G|LTBP1_uc002rou.2_Missense_Mutation_p.R462G|LTBP1_uc002rov.2_Missense_Mutation_p.R409G|LTBP1_uc010ymz.1_Missense_Mutation_p.R462G|LTBP1_uc010yna.1_Missense_Mutation_p.R409G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	788					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.153846	8.388967	11.362499	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33482545	33482545	9449	2	C	G	G	G	295	23	LTBP1	3	3
COLEC11	78989	broad.mit.edu	37	2	3691618	3691618	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3691618C>T	uc002qya.2	+	c.726C>T	c.(724-726)TGC>TGT	p.C242C	COLEC11_uc002qxz.2_Silent_p.C239C|COLEC11_uc002qyb.2_Silent_p.C218C|COLEC11_uc002qyc.2_Silent_p.C218C|COLEC11_uc010ewo.2_Silent_p.C194C|COLEC11_uc010ewp.2_Silent_p.C216C|COLEC11_uc010ewq.2_Silent_p.C192C|COLEC11_uc010ewr.2_Silent_p.C192C|COLEC11_uc010ews.2_Silent_p.C168C	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	242	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)										0.235294	9.192492	10.281412	4	13	KEEP	---	---	---	---	capture		Silent	SNP	3691618	3691618	3849	2	C	T	T	T	350	27	COLEC11	1	1
MTA3	57504	broad.mit.edu	37	2	42883408	42883408	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:42883408G>T	uc002rso.1	+	c.400G>T	c.(400-402)GAT>TAT	p.D134Y	MTA3_uc002rsp.1_Missense_Mutation_p.D134Y|MTA3_uc002rsq.2_Missense_Mutation_p.D190Y|MTA3_uc002rsr.2_Missense_Mutation_p.D190Y	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	190	ELM2.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2														0.413043	107.527632	108.136481	38	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42883408	42883408	10303	2	G	T	T	T	533	41	MTA3	2	2
ABCG8	64241	broad.mit.edu	37	2	44079549	44079549	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44079549C>A	uc002rtq.2	+	c.618C>A	c.(616-618)GGC>GGA	p.G206G	ABCG8_uc010yoa.1_Silent_p.G206G	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	206	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.413793	33.390749	33.579775	12	17	KEEP	---	---	---	---	capture		Silent	SNP	44079549	44079549	73	2	C	A	A	A	314	25	ABCG8	2	2
NRXN1	9378	broad.mit.edu	37	2	50280583	50280583	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50280583G>T	uc010fbq.2	-	c.4074C>A	c.(4072-4074)ATC>ATA	p.I1358I	NRXN1_uc010fbp.2_Silent_p.I253I|NRXN1_uc002rxb.3_Silent_p.I990I|NRXN1_uc002rxe.3_Silent_p.I1288I	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	253	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)											0.27907	63.262454	67.039283	24	62	KEEP	---	---	---	---	capture		Silent	SNP	50280583	50280583	11070	2	G	T	T	T	473	37	NRXN1	1	1
SPTBN1	6711	broad.mit.edu	37	2	54843381	54843381	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54843381A>G	uc002rxu.2	+	c.512A>G	c.(511-513)GAG>GGG	p.E171G	SPTBN1_uc002rxv.1_Missense_Mutation_p.E171G|SPTBN1_uc002rxx.2_Missense_Mutation_p.E158G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	171	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6			Lung(47;0.24)											0.166667	16.569416	21.626579	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54843381	54843381	15633	2	A	G	G	G	143	11	SPTBN1	4	4
C2orf63	130162	broad.mit.edu	37	2	55436623	55436623	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55436623G>T	uc002ryi.2	-	c.731C>A	c.(730-732)GCA>GAA	p.A244E	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Missense_Mutation_p.A122E	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	244							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)											0.170455	28.069611	37.110794	15	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55436623	55436623	2270	2	G	T	T	T	598	46	C2orf63	2	2
ADD2	119	broad.mit.edu	37	2	70901940	70901940	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:70901940C>A	uc002sgz.2	-	c.1611G>T	c.(1609-1611)CTG>CTT	p.L537L	ADD2_uc010fds.1_Non-coding_Transcript|ADD2_uc002sgy.2_Silent_p.L537L|ADD2_uc002sha.2_Silent_p.L231L|ADD2_uc002sgx.2_Silent_p.L537L|ADD2_uc010fdt.1_Silent_p.L537L	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	537					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3														0.246032	73.32765	80.765106	31	95	KEEP	---	---	---	---	capture		Silent	SNP	70901940	70901940	306	2	C	A	A	A	366	29	ADD2	2	2
CCT7	10574	broad.mit.edu	37	2	73467575	73467575	+	Silent	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73467575A>C	uc002siz.2	+	c.171A>C	c.(169-171)ACA>ACC	p.T57T	CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Silent_p.T13T|CCT7_uc010feu.2_Silent_p.T57T|CCT7_uc010yrg.1_Intron|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	57					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0														0.358491	58.004763	58.941542	19	34	KEEP	---	---	---	---	capture		Silent	SNP	73467575	73467575	3086	2	A	C	C	C	54	5	CCT7	4	4
CD8B	926	broad.mit.edu	37	2	87085255	87085255	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:87085255C>T	uc002ssa.2	-	c.328G>A	c.(328-330)GAC>AAC	p.D110N	RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Missense_Mutation_p.D110N|CD8B_uc002srx.2_Missense_Mutation_p.D110N|CD8B_uc002sry.2_Missense_Mutation_p.D110N|CD8B_uc010fgt.2_Missense_Mutation_p.D110N|CD8B_uc002srz.2_Missense_Mutation_p.D110N|CD8B_uc010yto.1_Missense_Mutation_p.D110N	NM_172099	NP_742097	P10966	CD8B_HUMAN	CD8b antigen isoform 1 precursor	110	Ig-like V-type.|Extracellular (Potential).				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding				0														0.218182	29.569109	33.595831	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87085255	87085255	3173	2	C	T	T	T	416	32	CD8B	2	2
TRIM43	129868	broad.mit.edu	37	2	96262129	96262129	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96262129G>T	uc002suv.2	+	c.687G>T	c.(685-687)ATG>ATT	p.M229I		NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN	tripartite motif-containing 43	229						intracellular	zinc ion binding			ovary(1)	1														0.159091	13.79622	18.668534	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96262129	96262129	17062	2	G	T	T	T	624	48	TRIM43	2	2
CCDC52	152185	broad.mit.edu	37	3	113212901	113212901	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113212901C>T	uc003eag.3	-	c.380G>A	c.(379-381)CGC>CAC	p.R127H	CCDC52_uc003eaf.3_Non-coding_Transcript|CCDC52_uc003eah.1_Missense_Mutation_p.R23H	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	127					cell division|mitosis	centriole|spindle	protein binding				0														0.196078	18.620956	23.013985	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113212901	113212901	2945	3	C	T	T	T	351	27	CCDC52	1	1
C3orf1	51300	broad.mit.edu	37	3	119232532	119232532	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119232532C>G	uc003ecn.2	+	c.562C>G	c.(562-564)CTG>GTG	p.L188V	C3orf1_uc003eco.2_Intron|C3orf1_uc003ecp.2_Non-coding_Transcript	NM_016589	NP_057673	Q9NPL8	CC001_HUMAN	hypothetical protein LOC51300	188						integral to membrane|mitochondrial inner membrane	protein transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.186)										0.26087	30.777825	33.15967	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119232532	119232532	2298	3	C	G	G	G	311	24	C3orf1	3	3
GPR156	165829	broad.mit.edu	37	3	119905559	119905559	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119905559C>A	uc011bjf.1	-	c.546G>T	c.(544-546)ACG>ACT	p.T182T	GPR156_uc011bjg.1_Silent_p.T182T	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	182	Helical; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.19)										0.183824	55.005389	67.75335	25	111	KEEP	---	---	---	---	capture		Silent	SNP	119905559	119905559	6936	3	C	A	A	A	236	19	GPR156	1	1
RAB6B	51560	broad.mit.edu	37	3	133547660	133547660	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133547660G>T	uc003epy.2	-	c.599C>A	c.(598-600)CCG>CAG	p.P200Q	RAB6B_uc011blu.1_Missense_Mutation_p.P187Q	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	200					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1														0.245902	73.787569	80.898861	30	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133547660	133547660	13411	3	G	T	T	T	507	39	RAB6B	1	1
EPHB1	2047	broad.mit.edu	37	3	134670328	134670328	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134670328G>T	uc003eqt.2	+	c.239G>T	c.(238-240)CGG>CTG	p.R80L	EPHB1_uc010htz.1_Non-coding_Transcript|EPHB1_uc011bly.1_Missense_Mutation_p.R80L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	80	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.3125	56.088038	58.084848	20	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134670328	134670328	5367	3	G	T	T	T	507	39	EPHB1	1	1
ATR	545	broad.mit.edu	37	3	142281403	142281403	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142281403C>A	uc003eux.3	-	c.841G>T	c.(841-843)GTA>TTA	p.V281L		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	281					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.319149	41.910652	43.27555	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142281403	142281403	1223	3	C	A	A	A	221	17	ATR	2	2
TRPC1	7220	broad.mit.edu	37	3	142523308	142523308	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142523308C>G	uc003evc.2	+	c.1990C>G	c.(1990-1992)CGA>GGA	p.R664G	TRPC1_uc003evb.2_Missense_Mutation_p.R630G	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	664					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														0.157895	32.985161	43.568073	15	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142523308	142523308	17129	3	C	G	G	G	399	31	TRPC1	3	3
HLTF	6596	broad.mit.edu	37	3	148764045	148764045	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148764045G>A	uc003ewq.1	-	c.1894C>T	c.(1894-1896)CGT>TGT	p.R632C	HLTF_uc003ewr.1_Missense_Mutation_p.R632C|HLTF_uc003ews.1_Missense_Mutation_p.R631C|HLTF_uc010hve.1_Missense_Mutation_p.R631C	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	632					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)											0.3	7.720689	8.07832	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148764045	148764045	7506	3	G	A	A	A	494	38	HLTF	1	1
SLC33A1	9197	broad.mit.edu	37	3	155571368	155571368	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155571368C>T	uc003fan.3	-	c.419G>A	c.(418-420)CGC>CAC	p.R140H	SLC33A1_uc003fao.1_Missense_Mutation_p.R140H	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	140	Cytoplasmic (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)											0.15	4.914597	7.261425	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155571368	155571368	15063	3	C	T	T	T	351	27	SLC33A1	1	1
IQCJ	654502	broad.mit.edu	37	3	158983086	158983086	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:158983086G>A	uc003fcp.1	+	c.374G>A	c.(373-375)AGG>AAG	p.R125K	SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.R98K	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	IQ motif containing J isoform CaMBPv1	125											0			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)											0.358268	274.864427	279.353478	91	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158983086	158983086	8115	3	G	A	A	A	455	35	IQCJ	2	2
NMD3	51068	broad.mit.edu	37	3	160965079	160965079	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160965079G>A	uc003fec.2	+	c.1164G>A	c.(1162-1164)GAG>GAA	p.E388E	NMD3_uc003feb.1_Silent_p.E388E|NMD3_uc003fed.1_Silent_p.E388E|NMD3_uc010hwh.2_Silent_p.E208E	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	388					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)											0.296875	52.798523	55.160625	19	45	KEEP	---	---	---	---	capture		Silent	SNP	160965079	160965079	10891	3	G	A	A	A	438	34	NMD3	2	2
PEX5L	51555	broad.mit.edu	37	3	179615934	179615934	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179615934G>T	uc003fki.1	-	c.194C>A	c.(193-195)TCA>TAA	p.S65*	PEX5L_uc011bqd.1_Nonsense_Mutation_p.S22*|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_Nonsense_Mutation_p.S22*|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Nonsense_Mutation_p.S63*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.S41*|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	65					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)							648				0.336735	91.753064	94.059739	33	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	179615934	179615934	12171	3	G	T	T	T	585	45	PEX5L	5	2
KLHL24	54800	broad.mit.edu	37	3	183382794	183382794	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183382794A>T	uc003flv.2	+	c.1191A>T	c.(1189-1191)AGA>AGT	p.R397S	KLHL24_uc003flw.2_Missense_Mutation_p.R397S|KLHL24_uc003flx.2_Missense_Mutation_p.R397S	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	397	Kelch 2.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)											0.064935	-4.185557	10.953446	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183382794	183382794	8691	3	A	T	T	T	154	12	KLHL24	3	3
ETV5	2119	broad.mit.edu	37	3	185798928	185798928	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:185798928C>T	uc003fpy.2	-	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	ETV5_uc003fpz.2_Missense_Mutation_p.R90Q	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	90					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				0.242038	97.093984	106.606407	38	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185798928	185798928	5475	3	C	T	T	T	299	23	ETV5	1	1
CNTN4	152330	broad.mit.edu	37	3	2778014	2778014	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:2778014A>T	uc003bpc.2	+	c.171A>T	c.(169-171)AAA>AAT	p.K57N	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.K57N	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	57	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.384615	43.118625	43.572739	15	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2778014	2778014	3781	3	A	T	T	T	24	2	CNTN4	3	3
STT3B	201595	broad.mit.edu	37	3	31641905	31641905	+	Silent	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:31641905A>T	uc011axe.1	+	c.831A>T	c.(829-831)GTA>GTT	p.V277V	STT3B_uc010hft.1_Silent_p.V277V|STT3B_uc003cer.1_Silent_p.V277V|STT3B_uc003cet.2_Silent_p.V28V	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	277	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0														0.222222	17.483727	20.039053	8	28	KEEP	---	---	---	---	capture		Silent	SNP	31641905	31641905	15854	3	A	T	T	T	197	16	STT3B	3	3
CLASP2	23122	broad.mit.edu	37	3	33540177	33540177	+	Silent	SNP	T	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33540177T>G	uc003cfu.2	-	c.4467A>C	c.(4465-4467)GCA>GCC	p.A1489A	CLASP2_uc003cfs.2_Silent_p.A696A|CLASP2_uc003cft.2_Non-coding_Transcript|CLASP2_uc010hgb.2_Non-coding_Transcript	NM_015097	NP_055912	O75122	CLAP2_HUMAN	CLIP-associating protein 2	1277	Required for cortical localization.|Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|microtubule anchoring|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	cell cortex|condensed chromosome kinetochore|cytoplasmic microtubule|cytosol|kinetochore microtubule|microtubule organizing center|trans-Golgi network	galactoside 2-alpha-L-fucosyltransferase activity|microtubule plus-end binding			ovary(3)|central_nervous_system(1)	4														0.2	47.07489	55.022983	19	76	KEEP	---	---	---	---	capture		Silent	SNP	33540177	33540177	3591	3	T	G	G	G	756	59	CLASP2	4	4
CCDC13	152206	broad.mit.edu	37	3	42784550	42784550	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42784550C>A	uc003cly.3	-	c.826_splice	c.e8-1	p.V276_splice		NM_144719	NP_653320			coiled-coil domain containing 13											ovary(1)	1														0.096774	1.803065	11.917736	6	56	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42784550	42784550	2885	3	C	A	A	A	312	24	CCDC13	5	2
CAMP	820	broad.mit.edu	37	3	48265844	48265844	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48265844G>A	uc003csj.1	+	c.202G>A	c.(202-204)GAT>AAT	p.D68N		NM_004345	NP_004336	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	68					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)										0.619048	41.879117	42.139985	13	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48265844	48265844	2727	3	G	A	A	A	533	41	CAMP	2	2
COL7A1	1294	broad.mit.edu	37	3	48609589	48609589	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48609589G>T	uc003ctz.2	-	c.6994C>A	c.(6994-6996)CGA>AGA	p.R2332R		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2332	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.454545	13.26935	13.289597	5	6	KEEP	---	---	---	---	capture		Silent	SNP	48609589	48609589	3842	3	G	T	T	T	506	39	COL7A1	1	1
COL7A1	1294	broad.mit.edu	37	3	48621469	48621469	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48621469C>G	uc003ctz.2	-	c.4223G>C	c.(4222-4224)CGG>CCG	p.R1408P		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1408	Triple-helical region.|Interrupted collagenous region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.148148	7.182344	10.390924	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48621469	48621469	3842	3	C	G	G	G	299	23	COL7A1	3	3
KBTBD8	84541	broad.mit.edu	37	3	67053833	67053833	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:67053833G>T	uc003dmy.2	+	c.442G>T	c.(442-444)GAC>TAC	p.D148Y	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	148										ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)										0.131868	15.234586	27.223154	12	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67053833	67053833	8304	3	G	T	T	T	533	41	KBTBD8	2	2
CAV3	859	broad.mit.edu	37	3	8787364	8787364	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:8787364C>A	uc003bra.2	+	c.267C>A	c.(265-267)GGC>GGA	p.G89G	C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Silent_p.G89G	NM_001234	NP_001225	P56539	CAV3_HUMAN	caveolin 3	89	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity				0														0.611111	33.030901	33.227476	11	7	KEEP	---	---	---	---	capture		Silent	SNP	8787364	8787364	2814	3	C	A	A	A	353	28	CAV3	2	2
EPHA6	285220	broad.mit.edu	37	3	97251372	97251372	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97251372G>A	uc010how.1	+	c.2371G>A	c.(2371-2373)GGG>AGG	p.G791R	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.G157R|EPHA6_uc003drs.3_Missense_Mutation_p.G183R|EPHA6_uc003drr.3_Missense_Mutation_p.G183R|EPHA6_uc003drt.2_Missense_Mutation_p.G183R|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	696	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.41791	87.989448	88.383272	28	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97251372	97251372	5364	3	G	A	A	A	455	35	EPHA6	2	2
PPP3CA	5530	broad.mit.edu	37	4	101947137	101947137	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:101947137G>A	uc011cen.1	-	c.1451C>T	c.(1450-1452)CCG>CTG	p.P484L	PPP3CA_uc003hvu.2_Missense_Mutation_p.P474L|PPP3CA_uc010ilj.2_Missense_Mutation_p.P432L|PPP3CA_uc003hvt.2_Missense_Mutation_p.P461L|PPP3CA_uc003hvs.2_Missense_Mutation_p.P417L|PPP3CA_uc010ilk.2_Missense_Mutation_p.P252L	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	484	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)						173				0.148472	58.828057	85.963712	34	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101947137	101947137	12833	4	G	A	A	A	507	39	PPP3CA	1	1
ENPEP	2028	broad.mit.edu	37	4	111470556	111470556	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:111470556G>T	uc003iab.3	+	c.2206G>T	c.(2206-2208)GCT>TCT	p.A736S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	736	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)									0.716981	126.470616	128.711219	38	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111470556	111470556	5321	4	G	T	T	T	598	46	ENPEP	2	2
C4orf21	55345	broad.mit.edu	37	4	113541202	113541202	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113541202G>A	uc003iau.2	-	c.307C>T	c.(307-309)CGA>TGA	p.R103*	C4orf21_uc003iaw.2_Nonsense_Mutation_p.R103*	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)										0.067797	-2.439498	8.96017	4	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113541202	113541202	2349	4	G	A	A	A	506	39	C4orf21	5	1
ANK2	287	broad.mit.edu	37	4	114275193	114275193	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114275193C>A	uc003ibe.3	+	c.5419C>A	c.(5419-5421)CCA>ACA	p.P1807T	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.P1822T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1774	Repeat A.|Repeat-rich region.				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)										0.320628	363.954574	376.709966	143	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114275193	114275193	624	4	C	A	A	A	390	30	ANK2	2	2
ANK2	287	broad.mit.edu	37	4	114278824	114278824	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114278824C>A	uc003ibe.3	+	c.9050C>A	c.(9049-9051)CCT>CAT	p.P3017H	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P319H|ANK2_uc011cgb.1_Missense_Mutation_p.P3032H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2984					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)										0.135542	65.565814	108.282589	45	287	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114278824	114278824	624	4	C	A	A	A	312	24	ANK2	2	2
SLC25A31	83447	broad.mit.edu	37	4	128694602	128694602	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128694602A>T	uc003ifl.2	+	c.821A>T	c.(820-822)CAT>CTT	p.H274L		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	274	Solcar 3.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0														0.065217	-2.010808	7.017085	3	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128694602	128694602	14992	4	A	T	T	T	104	8	SLC25A31	3	3
PLK4	10733	broad.mit.edu	37	4	128807079	128807079	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128807079G>A	uc003ifo.2	+	c.554G>A	c.(553-555)CGA>CAA	p.R185Q	PLK4_uc011cgs.1_Missense_Mutation_p.R153Q|PLK4_uc011cgt.1_Missense_Mutation_p.R144Q	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	185	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|protein phosphorylation|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						Colon(135;508 1718 19061 31832 42879)				258				0.230769	22.256572	24.845816	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128807079	128807079	12524	4	G	A	A	A	481	37	PLK4	1	1
HHIP	64399	broad.mit.edu	37	4	145628274	145628274	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:145628274G>T	uc003ijs.1	+	c.1019G>T	c.(1018-1020)AGA>ATA	p.R340I		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	340						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)										0.175824	31.041393	40.060436	16	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145628274	145628274	7376	4	G	T	T	T	429	33	HHIP	2	2
GRIA2	2891	broad.mit.edu	37	4	158283987	158283987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158283987G>T	uc003ipm.3	+	c.2443G>T	c.(2443-2445)GGA>TGA	p.G815*	GRIA2_uc011cit.1_Nonsense_Mutation_p.G768*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.G815*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.G768*|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	815	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.38835	115.972027	117.0983	40	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158283987	158283987	7046	4	G	T	T	T	611	47	GRIA2	5	2
TMEM144	55314	broad.mit.edu	37	4	159156650	159156650	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159156650C>T	uc003ipx.2	+	c.556C>T	c.(556-558)CGC>TGC	p.R186C	TMEM144_uc010iqi.2_Intron	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	186						integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)										0.166667	17.247443	22.931237	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159156650	159156650	16590	4	C	T	T	T	299	23	TMEM144	1	1
FSTL5	56884	broad.mit.edu	37	4	162463754	162463754	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162463754C>A	uc003iqh.2	-	c.1107G>T	c.(1105-1107)AAG>AAT	p.K369N	FSTL5_uc003iqi.2_Missense_Mutation_p.K368N|FSTL5_uc010iqv.2_Missense_Mutation_p.K368N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	369	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.241667	67.100834	74.42049	29	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162463754	162463754	6331	4	C	A	A	A	363	28	FSTL5	2	2
FAM149A	25854	broad.mit.edu	37	4	187075718	187075718	+	Silent	SNP	T	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187075718T>G	uc003iyt.3	+	c.309T>G	c.(307-309)CGT>CGG	p.R103R	FAM149A_uc011cla.1_Silent_p.R103R|FAM149A_uc010isj.2_Silent_p.R103R|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc003iyu.3_Silent_p.R103R|FAM149A_uc010isl.2_Silent_p.R103R|FAM149A_uc011clb.1_Silent_p.R103R	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	394										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)										0.081633	-0.137076	8.596953	4	45	KEEP	---	---	---	---	capture		Silent	SNP	187075718	187075718	5652	4	T	G	G	G	769	60	FAM149A	4	4
ARAP2	116984	broad.mit.edu	37	4	36231049	36231049	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:36231049C>G	uc003gsq.1	-	c.60G>C	c.(58-60)TTG>TTC	p.L20F	ARAP2_uc003gsr.1_Missense_Mutation_p.L20F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	20	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.4	124.668397	125.632948	44	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36231049	36231049	850	4	C	G	G	G	272	21	ARAP2	3	3
WDR19	57728	broad.mit.edu	37	4	39276448	39276448	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39276448T>A	uc003gtv.2	+	c.3586T>A	c.(3586-3588)TCA>ACA	p.S1196T	WDR19_uc011byi.1_Missense_Mutation_p.S1036T|WDR19_uc003gtw.1_Missense_Mutation_p.S793T	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1196					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1														0.174863	59.788866	78.04205	32	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39276448	39276448	17852	4	T	A	A	A	754	58	WDR19	3	3
C4orf34	201895	broad.mit.edu	37	4	39606740	39606740	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39606740C>T	uc003guo.2	-	c.26G>A	c.(25-27)TGT>TAT	p.C9Y		NM_174921	NP_777581	Q96QK8	CD034_HUMAN	hypothetical protein LOC201895	9						integral to membrane	protein binding				0														0.205128	17.378039	20.52384	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39606740	39606740	2359	4	C	T	T	T	221	17	C4orf34	2	2
SLC30A9	10463	broad.mit.edu	37	4	42072578	42072578	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:42072578G>T	uc003gwl.2	+	c.1288G>T	c.(1288-1290)GTG>TTG	p.V430L	SLC30A9_uc011byx.1_Missense_Mutation_p.V190L	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	430	Helical; (Potential).				nucleotide-excision repair|regulation of transcription, DNA-dependent|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3														0.186441	24.292208	29.725408	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42072578	42072578	15059	4	G	T	T	T	624	48	SLC30A9	2	2
KIT	3815	broad.mit.edu	37	4	55561740	55561740	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55561740T>C	uc010igr.2	+	c.130T>C	c.(130-132)TCA>CCA	p.S44P	KIT_uc010igs.2_Missense_Mutation_p.S44P	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	44	Extracellular (Potential).|Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3041)|haematopoietic_and_lymphoid_tissue(1544)|skin(98)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(10)|lung(6)|thymus(5)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	4855	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			1		431				0.166667	11.095765	15.52748	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55561740	55561740	8641	4	T	C	C	C	650	50	KIT	4	4
KDR	3791	broad.mit.edu	37	4	55972875	55972875	+	Silent	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55972875A>G	uc003has.2	-	c.1515T>C	c.(1513-1515)GCT>GCC	p.A505A	KDR_uc003hat.1_Silent_p.A505A|KDR_uc011bzx.1_Silent_p.A505A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	505	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.228571	41.364384	46.094223	16	54	KEEP	---	---	---	---	capture		Silent	SNP	55972875	55972875	8445	4	A	G	G	G	132	11	KDR	4	4
EPHA5	2044	broad.mit.edu	37	4	66217200	66217200	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66217200G>T	uc011cah.1	-	c.2418C>A	c.(2416-2418)AAC>AAA	p.N806K	EPHA5_uc003hcx.2_Missense_Mutation_p.N737K|EPHA5_uc003hcy.2_Missense_Mutation_p.N805K|EPHA5_uc003hcz.2_Missense_Mutation_p.N783K|EPHA5_uc011cai.1_Missense_Mutation_p.N784K|EPHA5_uc003hda.2_Missense_Mutation_p.N806K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	805	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.300578	141.828289	147.976962	52	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66217200	66217200	5363	4	G	T	T	T	620	48	EPHA5	2	2
CSN3	1448	broad.mit.edu	37	4	71114782	71114782	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71114782C>A	uc003hfe.3	+	c.155C>A	c.(154-156)CCA>CAA	p.P52Q		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	52						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.342105	110.987988	113.500343	39	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71114782	71114782	4090	4	C	A	A	A	273	21	CSN3	2	2
FRAS1	80144	broad.mit.edu	37	4	79417957	79417957	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79417957A>T	uc003hlb.2	+	c.8959_splice	c.e60-2	p.V2987_splice	FRAS1_uc003hlc.1_5'Flank	NM_025074	NP_079350			Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.59633	417.189089	418.959616	130	88	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	79417957	79417957	6288	4	A	T	T	T	195	15	FRAS1	5	3
FAM13A	10144	broad.mit.edu	37	4	89950666	89950666	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89950666G>T	uc003hse.1	-	c.162C>A	c.(160-162)ACC>ACA	p.T54T	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Silent_p.T54T|FAM13A_uc003hsj.2_Silent_p.T54T	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	54	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2														0.298851	66.819283	69.964073	26	61	KEEP	---	---	---	---	capture		Silent	SNP	89950666	89950666	5649	4	G	T	T	T	496	39	FAM13A	1	1
UNC5C	8633	broad.mit.edu	37	4	96091363	96091363	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96091363C>T	uc003htp.1	-	c.2572G>A	c.(2572-2574)GCC>ACC	p.A858T		NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	858	Cytoplasmic (Potential).|Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)										0.34413	208.554169	213.828689	85	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96091363	96091363	17551	4	C	T	T	T	325	25	UNC5C	2	2
SLC6A19	340024	broad.mit.edu	37	5	1216785	1216785	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1216785G>A	uc003jbw.3	+	c.1000G>A	c.(1000-1002)GAC>AAC	p.D334N		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	334	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)											0.173913	7.786856	10.094614	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1216785	1216785	15179	5	G	A	A	A	481	37	SLC6A19	1	1
MEGF10	84466	broad.mit.edu	37	5	126732432	126732432	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126732432G>A	uc003kuh.3	+	c.621G>A	c.(619-621)ACG>ACA	p.T207T	MEGF10_uc010jdc.1_Silent_p.T207T|MEGF10_uc010jdd.1_Silent_p.T207T|MEGF10_uc003kui.3_Silent_p.T207T	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	207	Extracellular (Potential).|EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.068966	-2.338205	8.791353	4	54	KEEP	---	---	---	---	capture		Silent	SNP	126732432	126732432	9849	5	G	A	A	A	496	39	MEGF10	1	1
PCDHA1	56147	broad.mit.edu	37	5	140166174	140166174	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140166174C>T	uc003lhb.2	+	c.299C>T	c.(298-300)GCG>GTG	p.A100V	PCDHA1_uc003lha.2_Missense_Mutation_p.A100V|PCDHA1_uc003lgz.2_Missense_Mutation_p.A100V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.428571	57.844197	58.065898	21	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140166174	140166174	11939	5	C	T	T	T	351	27	PCDHA1	1	1
PCDHA5	56143	broad.mit.edu	37	5	140203277	140203277	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140203277C>A	uc003lhl.2	+	c.1917C>A	c.(1915-1917)ACC>ACA	p.T639T	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_Silent_p.T639T|PCDHA5_uc003lhj.1_Silent_p.T639T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	639	Extracellular (Potential).|Cadherin 6.				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)											0.159091	13.601261	18.469599	7	37	KEEP	---	---	---	---	capture		Silent	SNP	140203277	140203277	11947	5	C	A	A	A	288	23	PCDHA5	1	1
PCDHA6	56142	broad.mit.edu	37	5	140208622	140208622	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140208622T>C	uc003lho.2	+	c.946T>C	c.(946-948)TAC>CAC	p.Y316H	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_Missense_Mutation_p.Y316H|PCDHA6_uc011dab.1_Missense_Mutation_p.Y316H	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	316	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.666667	48.357093	48.874077	14	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140208622	140208622	11948	5	T	C	C	C	637	49	PCDHA6	4	4
PCDHA8	56140	broad.mit.edu	37	5	140222201	140222201	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140222201C>G	uc003lhs.2	+	c.1295C>G	c.(1294-1296)TCG>TGG	p.S432W	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_uc003lhr.1_Missense_Mutation_p.S432W	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	432	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.485714	51.47656	51.482524	17	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140222201	140222201	11950	5	C	G	G	G	403	31	PCDHA8	3	3
PCDHB2	56133	broad.mit.edu	37	5	140475894	140475894	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140475894C>A	uc003lil.2	+	c.1520C>A	c.(1519-1521)TCC>TAC	p.S507Y	PCDHB2_uc003lim.1_Missense_Mutation_p.S168Y	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	507	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.428571	73.912966	74.19332	27	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140475894	140475894	11962	5	C	A	A	A	390	30	PCDHB2	2	2
PCDHGB1	56104	broad.mit.edu	37	5	140731490	140731490	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140731490G>T	uc003ljo.1	+	c.1663G>T	c.(1663-1665)GCG>TCG	p.A555S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.A555S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	555	Extracellular (Potential).|Cadherin 5.				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)											0.628571	70.960445	71.470652	22	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140731490	140731490	11982	5	G	T	T	T	598	46	PCDHGB1	2	2
PCDHGB4	8641	broad.mit.edu	37	5	140769092	140769092	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140769092C>T	uc003lkc.1	+	c.1641C>T	c.(1639-1641)CGC>CGT	p.R547R	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_uc011dav.1_Silent_p.R547R	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	547	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)											0.210526	7.588624	9.063306	4	15	KEEP	---	---	---	---	capture		Silent	SNP	140769092	140769092	11985	5	C	T	T	T	340	27	PCDHGB4	1	1
PCDHGA8	9708	broad.mit.edu	37	5	140773662	140773662	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140773662G>T	uc003lkd.1	+	c.1282G>T	c.(1282-1284)GGA>TGA	p.G428*	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_uc003lkb.3_Nonsense_Mutation_p.G428*	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	428	Cadherin 4.|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)											0.470588	21.48826	21.501722	8	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140773662	140773662	11980	5	G	T	T	T	455	35	PCDHGA8	5	2
SH3TC2	79628	broad.mit.edu	37	5	148421175	148421175	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148421175A>T	uc003lpu.2	-	c.535T>A	c.(535-537)TTC>ATC	p.F179I	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.F172I|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.F64I	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	179							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.173077	17.240587	22.491998	9	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148421175	148421175	14754	5	A	T	T	T	39	3	SH3TC2	3	3
CAMK2A	815	broad.mit.edu	37	5	149636358	149636358	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149636358G>T	uc003lrt.2	-	c.309C>A	c.(307-309)GCC>GCA	p.A103A	CAMK2A_uc003lru.2_Silent_p.A103A|CAMK2A_uc010jhe.2_Silent_p.A83A|CAMK2A_uc010jhf.1_5'Flank	NM_015981	NP_057065	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	103	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|protein phosphorylation|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)							161				0.611111	68.459303	68.850648	22	14	KEEP	---	---	---	---	capture		Silent	SNP	149636358	149636358	2716	5	G	T	T	T	548	43	CAMK2A	2	2
FAM114A2	10827	broad.mit.edu	37	5	153406765	153406765	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153406765C>A	uc003lvb.2	-	c.760G>T	c.(760-762)GAG>TAG	p.E254*	FAM114A2_uc003lvc.2_Nonsense_Mutation_p.E254*|FAM114A2_uc003lvd.2_Nonsense_Mutation_p.E254*|FAM114A2_uc003lve.2_Nonsense_Mutation_p.E70*|FAM114A2_uc011dda.1_Nonsense_Mutation_p.E184*	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	254							purine nucleotide binding				0														0.5	94.895763	94.895763	32	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153406765	153406765	5601	5	C	A	A	A	390	30	FAM114A2	5	2
FAM71B	153745	broad.mit.edu	37	5	156590312	156590312	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156590312C>T	uc003lwn.2	-	c.964G>A	c.(964-966)GGA>AGA	p.G322R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	322						nucleus				ovary(3)|pancreas(1)	4	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.413333	98.314176	98.805447	31	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156590312	156590312	5831	5	C	T	T	T	312	24	FAM71B	2	2
FAM134B	54463	broad.mit.edu	37	5	16475022	16475022	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16475022G>T	uc003jfs.2	-	c.1322C>A	c.(1321-1323)CCC>CAC	p.P441H	FAM134B_uc003jfr.2_Missense_Mutation_p.P300H	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	441					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3														0.342857	99.978586	102.264224	36	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16475022	16475022	5643	5	G	T	T	T	559	43	FAM134B	2	2
SLIT3	6586	broad.mit.edu	37	5	168176542	168176542	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168176542T>A	uc010jjg.2	-	c.2072A>T	c.(2071-2073)CAG>CTG	p.Q691L	SLIT3_uc003mab.2_Missense_Mutation_p.Q691L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	691	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.5	116.505575	116.505575	39	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168176542	168176542	15239	5	T	A	A	A	715	55	SLIT3	3	3
DOCK2	1794	broad.mit.edu	37	5	169477278	169477278	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169477278C>A	uc003maf.2	+	c.4090C>A	c.(4090-4092)CGC>AGC	p.R1364S	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjm.2_Missense_Mutation_p.R856S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				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)											0.385	235.846961	238.158693	77	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169477278	169477278	4871	5	C	A	A	A	299	23	DOCK2	1	1
GPRIN1	114787	broad.mit.edu	37	5	176025350	176025350	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176025350C>T	uc003meo.1	-	c.1486G>A	c.(1486-1488)GAT>AAT	p.D496N		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	496						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.3125	27.437516	28.439511	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176025350	176025350	7005	5	C	T	T	T	403	31	GPRIN1	1	1
FGFR4	2264	broad.mit.edu	37	5	176522357	176522357	+	Missense_Mutation	SNP	G	A	A	rs34158682		TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176522357G>A	uc003mfl.2	+	c.1546G>A	c.(1546-1548)GAC>AAC	p.D516N	FGFR4_uc003mfm.2_Missense_Mutation_p.D516N|FGFR4_uc011dfu.1_Missense_Mutation_p.D448N|FGFR4_uc003mfo.2_Missense_Mutation_p.D476N	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	516	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(10)|breast(1)|central_nervous_system(1)|skin(1)	13	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)					219	TSP Lung(9;0.080)			0.283582	49.80351	52.617621	19	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176522357	176522357	6105	5	G	A	A	A	481	37	FGFR4	1	1
ZNF454	285676	broad.mit.edu	37	5	178391871	178391871	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178391871G>C	uc003mjo.1	+	c.466G>C	c.(466-468)GGG>CGG	p.G156R	ZNF454_uc010jkz.1_Missense_Mutation_p.G156R	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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)	all cancers(165;0.234)										0.194444	13.107012	16.241519	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178391871	178391871	18516	5	G	C	C	C	507	39	ZNF454	3	3
CDH6	1004	broad.mit.edu	37	5	31316365	31316365	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31316365G>A	uc003jhe.1	+	c.1441G>A	c.(1441-1443)GTC>ATC	p.V481I	CDH6_uc003jhd.1_Missense_Mutation_p.V481I	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	481	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.074627	-1.780477	10.666328	5	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31316365	31316365	3243	5	G	A	A	A	624	48	CDH6	2	2
CDH6	1004	broad.mit.edu	37	5	31323217	31323217	+	Silent	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31323217G>C	uc003jhe.1	+	c.2175G>C	c.(2173-2175)ACG>ACC	p.T725T		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	725	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.144928	14.415498	22.780015	10	59	KEEP	---	---	---	---	capture		Silent	SNP	31323217	31323217	3243	5	G	C	C	C	496	39	CDH6	3	3
PDZD2	23037	broad.mit.edu	37	5	32061173	32061173	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32061173A>G	uc003jhl.2	+	c.2384A>G	c.(2383-2385)CAC>CGC	p.H795R	PDZD2_uc003jhm.2_Missense_Mutation_p.H795R|PDZD2_uc011cnx.1_Missense_Mutation_p.H621R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	795	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.688889	96.835383	98.264293	31	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32061173	32061173	12122	5	A	G	G	G	78	6	PDZD2	4	4
ADAMTS12	81792	broad.mit.edu	37	5	33658334	33658334	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33658334G>A	uc003jia.1	-	c.1145C>T	c.(1144-1146)TCG>TTG	p.S382L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S382L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	382	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.149502	73.533193	108.957446	45	256	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33658334	33658334	258	5	G	A	A	A	481	37	ADAMTS12	1	1
SPEF2	79925	broad.mit.edu	37	5	35792527	35792527	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35792527G>T	uc003jjo.2	+	c.4533G>T	c.(4531-4533)TGG>TGT	p.W1511C	SPEF2_uc003jjp.1_Missense_Mutation_p.W997C|SPEF2_uc003jjr.2_Missense_Mutation_p.W566C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1511					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.73913	269.618933	275.572292	85	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35792527	35792527	15547	5	G	T	T	T	533	41	SPEF2	2	2
UGT3A1	133688	broad.mit.edu	37	5	35988626	35988626	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35988626C>A	uc003jjv.1	-	c.122G>T	c.(121-123)CGG>CTG	p.R41L	UGT3A1_uc003jjw.1_Non-coding_Transcript|UGT3A1_uc011coq.1_Missense_Mutation_p.R41L|UGT3A1_uc011cor.1_Intron|UGT3A1_uc003jjy.1_5'UTR	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	41	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)											0.27	73.289332	78.056254	27	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35988626	35988626	17521	5	C	A	A	A	299	23	UGT3A1	1	1
CCL28	56477	broad.mit.edu	37	5	43388579	43388579	+	Splice_Site_SNP	SNP	C	A	A	rs78470036	byFrequency;by1000genomes	TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43388579C>A	uc003jnu.2	-	c.65_splice	c.e2-1	p.A22_splice	CCL28_uc003jns.2_Splice_Site_SNP|CCL28_uc003jnt.2_Splice_Site_SNP|CCL28_uc010ivn.2_Splice_Site_SNP	NM_148672	NP_683513			chemokine (C-C motif) ligand 28 precursor						chemotaxis|immune response	extracellular space	chemokine activity			ovary(1)|kidney(1)	2						Esophageal Squamous(178;1549 1997 2043 22794 27051)								0.533333	47.395334	47.423889	16	14	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	43388579	43388579	3025	5	C	A	A	A	364	28	CCL28	5	2
DDX4	54514	broad.mit.edu	37	5	55075873	55075873	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55075873G>C	uc003jqg.3	+	c.476G>C	c.(475-477)GGA>GCA	p.G159A	DDX4_uc010ivz.2_Missense_Mutation_p.G139A|DDX4_uc003jqh.3_Intron|DDX4_uc003jqj.2_Intron	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	159	Gly-rich.				multicellular organismal development|sperm motility	pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)												0.108108	5.171784	10.805244	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55075873	55075873	4531	5	G	C	C	C	533	41	DDX4	3	3
NAIP	4671	broad.mit.edu	37	5	70308408	70308408	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70308408A>G	uc003kar.1	-	c.335T>C	c.(334-336)CTC>CCC	p.L112P	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.L112P|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	112	BIR 1.				anti-apoptosis|apoptosis|negative regulation of caspase activity|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)										0.257143	24.859894	26.730356	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70308408	70308408	10543	5	A	G	G	G	143	11	NAIP	4	4
TMEM171	134285	broad.mit.edu	37	5	72419493	72419493	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:72419493A>G	uc003kcm.2	+	c.293A>G	c.(292-294)GAC>GGC	p.D98G	TMEM171_uc003kcn.3_Missense_Mutation_p.D98G	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	98						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		NSCLC(112;638 2280 27369 30736)								0.15	12.029852	16.721788	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72419493	72419493	16622	5	A	G	G	G	130	10	TMEM171	4	4
IQGAP2	10788	broad.mit.edu	37	5	75954465	75954465	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75954465G>A	uc003kek.2	+	c.2502G>A	c.(2500-2502)CTG>CTA	p.L834L	IQGAP2_uc010izv.2_Silent_p.L387L|IQGAP2_uc011csv.1_Silent_p.L330L|IQGAP2_uc003kel.2_Silent_p.L330L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	834					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)										0.597938	175.959036	176.770874	58	39	KEEP	---	---	---	---	capture		Silent	SNP	75954465	75954465	8118	5	G	A	A	A	587	46	IQGAP2	2	2
CKMT2	1160	broad.mit.edu	37	5	80550258	80550258	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80550258A>G	uc003khc.3	+	c.395A>G	c.(394-396)AAC>AGC	p.N132S	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.N132S|CKMT2_uc003khd.3_Missense_Mutation_p.N132S	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	132	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)									0.227273	27.342649	30.334929	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80550258	80550258	3587	5	A	G	G	G	26	2	CKMT2	4	4
VCAN	1462	broad.mit.edu	37	5	82808182	82808183	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82808182_82808183CC>AA	uc003kii.3	+	c.1009_1010CC>AA	c.(1009-1011)CCT>AAT	p.P337N	VCAN_uc003kij.3_Missense_Mutation_p.P337N|VCAN_uc010jau.2_Missense_Mutation_p.P337N|VCAN_uc003kik.3_Missense_Mutation_p.P337N|VCAN_uc003kih.3_Missense_Mutation_p.P337N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	337	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.666667	82.54857	83.505274	26	13	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	82808182	82808183	17703	5	CC	AA	AA	AA	286	22	VCAN	2	2
RASA1	5921	broad.mit.edu	37	5	86645181	86645181	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:86645181G>C	uc003kiw.2	+	c.1253G>C	c.(1252-1254)AGC>ACC	p.S418T	RASA1_uc010jav.2_Non-coding_Transcript|RASA1_uc003kix.2_Missense_Mutation_p.S241T|RASA1_uc011ctv.1_Missense_Mutation_p.S251T|RASA1_uc011ctw.1_Missense_Mutation_p.S252T|RASA1_uc010jaw.2_Missense_Mutation_p.S240T	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	418	SH2 2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(1)|ovary(1)	2		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;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)						386				0.62069	50.249697	50.618827	18	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86645181	86645181	13520	5	G	C	C	C	455	35	RASA1	3	3
HS3ST5	222537	broad.mit.edu	37	6	114383950	114383950	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:114383950G>A	uc003pwg.3	-	c.60C>T	c.(58-60)GCC>GCT	p.A20A	HS3ST5_uc003pwh.3_Silent_p.A20A	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	20	Helical; Signal-anchor for type II membrane protein; (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)										0.207101	80.742068	94.170145	35	134	KEEP	---	---	---	---	capture		Silent	SNP	114383950	114383950	7662	6	G	A	A	A	496	39	HS3ST5	1	1
HIVEP1	3096	broad.mit.edu	37	6	12124121	12124121	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:12124121C>T	uc003nac.2	+	c.4093C>T	c.(4093-4095)CGT>TGT	p.R1365C	HIVEP1_uc011diq.1_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1365					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.068966	-6.363084	15.890192	8	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12124121	12124121	7477	6	C	T	T	T	351	27	HIVEP1	1	1
CLVS2	134829	broad.mit.edu	37	6	123369765	123369765	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123369765A>T	uc003pzi.1	+	c.565_splice	c.e4-2	p.D189_splice		NM_001010852	NP_001010852			retinaldehyde binding protein 1-like 2						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														0.5	156.550609	156.550609	50	50	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	123369765	123369765	3710	6	A	T	T	T	195	15	CLVS2	5	3
GRM1	2911	broad.mit.edu	37	6	146351044	146351044	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146351044C>T	uc010khw.1	+	c.391C>T	c.(391-393)CGA>TGA	p.R131*	GRM1_uc010khu.1_Nonsense_Mutation_p.R131*|GRM1_uc010khv.1_Nonsense_Mutation_p.R131*|GRM1_uc003qll.2_Nonsense_Mutation_p.R131*|GRM1_uc011edz.1_Nonsense_Mutation_p.R131*|GRM1_uc011eea.1_Nonsense_Mutation_p.R131*	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	131	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.285714	41.27953	43.585616	16	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	146351044	146351044	7075	6	C	T	T	T	399	31	GRM1	5	1
C6orf118	168090	broad.mit.edu	37	6	165715321	165715321	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165715321G>A	uc003qum.3	-	c.490C>T	c.(490-492)CCT>TCT	p.P164S	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	164											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)										0.609756	76.579892	77.012091	25	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165715321	165715321	2425	6	G	A	A	A	533	41	C6orf118	2	2
SLC17A2	10246	broad.mit.edu	37	6	25917015	25917015	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25917015C>A	uc003nfl.2	-	c.828G>T	c.(826-828)TGG>TGT	p.W276C	SLC17A2_uc011dkb.1_Missense_Mutation_p.W276C|SLC17A2_uc011dkc.1_Missense_Mutation_p.W276C	NM_005835	NP_005826	O00624	NPT3_HUMAN	solute carrier family 17 (sodium phosphate),	276	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1														0.261364	56.284219	60.820278	23	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25917015	25917015	14913	6	C	A	A	A	286	22	SLC17A2	2	2
HIST1H4D	8360	broad.mit.edu	37	6	26189055	26189055	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26189055C>T	uc003ngu.2	-	c.250G>A	c.(250-252)GCC>ACC	p.A84T		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	84					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)												0.208333	44.347367	51.910976	20	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26189055	26189055	7453	6	C	T	T	T	364	28	HIST1H4D	2	2
BTN3A3	10384	broad.mit.edu	37	6	26448982	26448982	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26448982C>A	uc003nhz.2	+	c.964C>A	c.(964-966)CGT>AGT	p.R322S	BTN3A3_uc003nia.2_Missense_Mutation_p.R280S|BTN3A3_uc011dkn.1_Missense_Mutation_p.R273S	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	322	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0														0.243478	74.254711	81.143536	28	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26448982	26448982	1598	6	C	A	A	A	403	31	BTN3A3	1	1
OR2B6	26212	broad.mit.edu	37	6	27925457	27925457	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27925457G>C	uc011dkx.1	+	c.439G>C	c.(439-441)GCA>CCA	p.A147P		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.333333	116.046803	119.006098	40	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27925457	27925457	11397	6	G	C	C	C	598	46	OR2B6	3	3
ZNF193	7746	broad.mit.edu	37	6	28195201	28195201	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28195201G>T	uc010jqz.1	+	c.339G>T	c.(337-339)AGG>AGT	p.R113S	ZNF193_uc003nkq.1_Missense_Mutation_p.R113S|ZNF193_uc003nkr.1_Missense_Mutation_p.R113S	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	113	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.413043	111.315198	111.925722	38	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28195201	28195201	18348	6	G	T	T	T	555	43	ZNF193	2	2
LTB	4050	broad.mit.edu	37	6	31548850	31548850	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31548850C>T	uc003nuk.2	-	c.371G>A	c.(370-372)GGG>GAG	p.G124E	LTB_uc003nul.2_3'UTR	NM_002341	NP_002332	Q06643	TNFC_HUMAN	lymphotoxin-beta isoform a	124	Extracellular (Potential).				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding				0					Infliximab(DB00065)|Simvastatin(DB00641)									0.230769	5.812653	6.682724	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31548850	31548850	9446	6	C	T	T	T	286	22	LTB	2	2
BAT2	7916	broad.mit.edu	37	6	31603426	31603426	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31603426A>C	uc003nvb.3	+	c.5441A>C	c.(5440-5442)AAG>ACG	p.K1814T	BAT2_uc003nvc.3_Missense_Mutation_p.K1814T	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1814						cytoplasm|nucleus	protein binding				0														0.160714	13.755065	19.881857	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31603426	31603426	1340	6	A	C	C	C	39	3	BAT2	4	4
SLC22A23	63027	broad.mit.edu	37	6	3287280	3287280	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:3287280C>A	uc003mvm.3	-	c.1359G>T	c.(1357-1359)ATG>ATT	p.M453I	SLC22A23_uc003mvn.3_Missense_Mutation_p.M172I|SLC22A23_uc003mvo.3_Missense_Mutation_p.M172I|SLC22A23_uc003mvp.1_Non-coding_Transcript|SLC22A23_uc010jnn.2_Missense_Mutation_p.M453I|SLC22A23_uc003mvq.1_Non-coding_Transcript	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	453					ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)												0.358974	39.638477	40.321747	14	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3287280	3287280	14949	6	C	A	A	A	273	21	SLC22A23	2	2
PPARD	5467	broad.mit.edu	37	6	35378976	35378976	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35378976C>A	uc003okm.2	+	c.112C>A	c.(112-114)CCT>ACT	p.P38T	PPARD_uc003okl.2_Missense_Mutation_p.P38T|PPARD_uc003okn.2_Missense_Mutation_p.P38T|PPARD_uc011dtb.1_Intron|PPARD_uc011dtc.1_Missense_Mutation_p.P38T|PPARD_uc010jvv.1_Non-coding_Transcript	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	38					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)					88				0.28	33.928922	36.104909	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35378976	35378976	12728	6	C	A	A	A	390	30	PPARD	2	2
KIF6	221458	broad.mit.edu	37	6	39563849	39563849	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39563849G>C	uc003oot.2	-	c.827C>G	c.(826-828)TCA>TGA	p.S276*	KIF6_uc010jxa.1_Nonsense_Mutation_p.S67*|KIF6_uc011dua.1_Nonsense_Mutation_p.S276*|KIF6_uc010jxb.1_Nonsense_Mutation_p.S276*	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	276					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.366667	100.748501	102.156365	33	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39563849	39563849	8619	6	G	C	C	C	585	45	KIF6	5	3
LRFN2	57497	broad.mit.edu	37	6	40400506	40400506	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:40400506C>A	uc003oph.1	-	c.347G>T	c.(346-348)GGG>GTG	p.G116V		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	116	LRR 3.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.275862	20.509227	21.807642	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40400506	40400506	9311	6	C	A	A	A	286	22	LRFN2	2	2
TREML4	285852	broad.mit.edu	37	6	41204319	41204319	+	Nonstop_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41204319G>C	uc003oqc.2	+	c.602G>C	c.(601-603)TGA>TCA	p.*201S	TREML4_uc003oqd.2_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid	201						extracellular region				breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)													0.309091	51.554384	53.340621	17	38	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	41204319	41204319	17018	6	G	C	C	C	581	45	TREML4	5	3
UBR2	23304	broad.mit.edu	37	6	42611955	42611955	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42611955G>C	uc011dur.1	+	c.2101G>C	c.(2101-2103)GGT>CGT	p.G701R	UBR2_uc011dus.1_Missense_Mutation_p.G346R|UBR2_uc010jxv.1_Missense_Mutation_p.G205R|UBR2_uc003osh.2_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	701						nucleus|plasma membrane	zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)											0.325	61.798053	63.985276	26	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42611955	42611955	17460	6	G	C	C	C	455	35	UBR2	3	3
ENPP5	59084	broad.mit.edu	37	6	46129366	46129366	+	Silent	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46129366T>C	uc003oxz.1	-	c.1131A>G	c.(1129-1131)CTA>CTG	p.L377L	ENPP5_uc003oya.1_Silent_p.L377L|ENPP5_uc011dvz.1_Silent_p.L283L|ENPP5_uc010jzc.1_3'UTR	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	377						extracellular region|integral to membrane	hydrolase activity				0														0.379845	287.874923	291.145972	98	160	KEEP	---	---	---	---	capture		Silent	SNP	46129366	46129366	5326	6	T	C	C	C	626	49	ENPP5	4	4
TDRD6	221400	broad.mit.edu	37	6	46657163	46657163	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46657163G>A	uc003oyj.2	+	c.1298G>A	c.(1297-1299)CGT>CAT	p.R433H	TDRD6_uc010jze.2_Missense_Mutation_p.R427H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	433					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5			Lung(136;0.192)											0.125	9.025881	16.685939	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46657163	46657163	16261	6	G	A	A	A	520	40	TDRD6	1	1
PLA2G7	7941	broad.mit.edu	37	6	46675888	46675888	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46675888C>A	uc010jzf.2	-	c.880G>T	c.(880-882)GCC>TCC	p.A294S	PLA2G7_uc010jzg.1_Intron	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	294					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)											0.130137	24.53147	43.964936	19	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46675888	46675888	12435	6	C	A	A	A	325	25	PLA2G7	2	2
PKHD1	5314	broad.mit.edu	37	6	51923295	51923295	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51923295C>A	uc003pah.1	-	c.1338G>T	c.(1336-1338)CTG>CTT	p.L446L	PKHD1_uc003pai.2_Silent_p.L446L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	446	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				0.31441	200.445105	207.448396	72	157	KEEP	---	---	---	---	capture		Silent	SNP	51923295	51923295	12396	6	C	A	A	A	210	17	PKHD1	2	2
KHDRBS2	202559	broad.mit.edu	37	6	62604607	62604607	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:62604607C>A	uc003peg.2	-	c.743G>T	c.(742-744)CGG>CTG	p.R248L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	248	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(3)|liver(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(397;0.149)										0.174419	30.889285	39.477924	15	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62604607	62604607	8453	6	C	A	A	A	299	23	KHDRBS2	1	1
BAI3	577	broad.mit.edu	37	6	70071172	70071172	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70071172C>T	uc003pev.3	+	c.4007C>T	c.(4006-4008)CCG>CTG	p.P1336L	BAI3_uc010kak.2_Missense_Mutation_p.P1336L|BAI3_uc011dxx.1_Missense_Mutation_p.P542L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1336	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)							p.P1336L(NUDHL1-Tumor)|p.P1336L(SNU46-Tumor)	992				0.27027	54.671899	58.191994	20	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70071172	70071172	1321	6	C	T	T	T	299	23	BAI3	1	1
COL19A1	1310	broad.mit.edu	37	6	70744137	70744137	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70744137G>T	uc003pfc.1	+	c.1081G>T	c.(1081-1083)GGT>TGT	p.G361C	COL19A1_uc010kam.1_Missense_Mutation_p.G257C	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	361			G -> D (in a breast cancer sample; somatic mutation).		cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.526316	58.99744	59.020157	20	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70744137	70744137	3814	6	G	T	T	T	559	43	COL19A1	2	2
FAM135A	57579	broad.mit.edu	37	6	71269450	71269450	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71269450G>T	uc003pfj.2	+	c.4374G>T	c.(4372-4374)TTG>TTT	p.L1458F	FAM135A_uc003pfi.2_Missense_Mutation_p.L1262F|FAM135A_uc003pfh.2_Missense_Mutation_p.L1245F|FAM135A_uc003pfl.2_Missense_Mutation_p.L1125F|FAM135A_uc003pfn.2_Missense_Mutation_p.L664F|FAM135A_uc010kan.1_Missense_Mutation_p.L200F|FAM135A_uc003pfp.2_Missense_Mutation_p.L22F	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1458										central_nervous_system(1)	1														0.578947	34.026591	34.12969	11	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71269450	71269450	5645	6	G	T	T	T	594	46	FAM135A	2	2
B3GAT2	135152	broad.mit.edu	37	6	71571537	71571537	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71571537G>T	uc003pfv.2	-	c.881C>A	c.(880-882)ACT>AAT	p.T294N	SMAP1_uc003pfr.2_3'UTR|SMAP1_uc003pfs.2_3'UTR|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_3'UTR|B3GAT2_uc011dxz.1_Non-coding_Transcript|B3GAT2_uc003pfw.2_Missense_Mutation_p.T294N	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	294	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)	2														0.2	38.483427	46.041984	18	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71571537	71571537	1275	6	G	T	T	T	468	36	B3GAT2	2	2
RREB1	6239	broad.mit.edu	37	6	7230227	7230227	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7230227G>T	uc003mxb.2	+	c.1895G>T	c.(1894-1896)GGC>GTC	p.G632V	RREB1_uc003mxc.2_Missense_Mutation_p.G632V|RREB1_uc010jnx.2_Missense_Mutation_p.G632V	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	632					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.44	30.021465	30.099763	11	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7230227	7230227	14159	6	G	T	T	T	546	42	RREB1	2	2
DSP	1832	broad.mit.edu	37	6	7583538	7583538	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7583538G>A	uc003mxp.1	+	c.6043G>A	c.(6043-6045)GCA>ACA	p.A2015T	DSP_uc003mxq.1_Missense_Mutation_p.A1416T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2015	Plectin 1.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)										0.160714	14.336584	20.476433	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7583538	7583538	4965	6	G	A	A	A	598	46	DSP	2	2
HTR1B	3351	broad.mit.edu	37	6	78172078	78172078	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:78172078A>T	uc003pil.1	-	c.1043T>A	c.(1042-1044)CTA>CAA	p.L348Q		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	348	Helical; Name=7; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)									0.26087	14.038329	15.229969	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78172078	78172078	7737	6	A	T	T	T	195	15	HTR1B	3	3
BMP6	654	broad.mit.edu	37	6	7862664	7862664	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7862664G>T	uc003mxu.3	+	c.1137G>T	c.(1135-1137)CGG>CGT	p.R379R		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	379					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)													0.34375	25.50346	26.198857	11	21	KEEP	---	---	---	---	capture		Silent	SNP	7862664	7862664	1489	6	G	T	T	T	535	42	BMP6	2	2
SLC35B3	51000	broad.mit.edu	37	6	8417116	8417116	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:8417116C>A	uc010joe.2	-	c.985_splice	c.e9+1	p.V329_splice	SLC35B3_uc003mya.2_Splice_Site_SNP_p.V297_splice|SLC35B3_uc003myc.2_Splice_Site_SNP|SLC35B3_uc003myb.2_Splice_Site_SNP_p.V329_splice|SLC35B3_uc011did.1_Splice_Site_SNP_p.V329_splice|SLC35B3_uc003myd.2_Splice_Site_SNP	NM_001142541	NP_001136013			solute carrier family 35, member B3						transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					Melanoma(83;700 1353 9357 11478 30548)								0.345238	88.15065	89.926812	29	55	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	8417116	8417116	15074	6	C	A	A	A	234	18	SLC35B3	5	2
SNAP91	9892	broad.mit.edu	37	6	84333034	84333034	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84333034G>C	uc011dze.1	-	c.793C>G	c.(793-795)CCT>GCT	p.P265A	SNAP91_uc003pkb.2_Missense_Mutation_p.P230A|SNAP91_uc003pkc.2_Missense_Mutation_p.P265A|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.P265A|SNAP91_uc011dzf.1_Missense_Mutation_p.P146A	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	265					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)										0.5	31.175141	31.175141	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84333034	84333034	15333	6	G	C	C	C	533	41	SNAP91	3	3
MDN1	23195	broad.mit.edu	37	6	90468013	90468013	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90468013T>A	uc003pnn.1	-	c.2663A>T	c.(2662-2664)GAT>GTT	p.D888V	MDN1_uc003pno.1_Missense_Mutation_p.D307V	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	888					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.631579	38.501674	38.790435	12	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90468013	90468013	9804	6	T	A	A	A	650	50	MDN1	3	3
EPHA7	2045	broad.mit.edu	37	6	93956666	93956666	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:93956666G>A	uc003poe.2	-	c.2570C>T	c.(2569-2571)GCA>GTA	p.A857V	EPHA7_uc003pof.2_Missense_Mutation_p.A852V|EPHA7_uc011eac.1_Missense_Mutation_p.A853V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	857	Cytoplasmic (Potential).|Protein kinase.				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				0.290909	39.320462	41.450423	16	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93956666	93956666	5365	6	G	A	A	A	598	46	EPHA7	2	2
EPHA7	2045	broad.mit.edu	37	6	93967898	93967898	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:93967898T>C	uc003poe.2	-	c.2029A>G	c.(2029-2031)AGA>GGA	p.R677G	EPHA7_uc003pof.2_Missense_Mutation_p.R672G|EPHA7_uc011eac.1_Missense_Mutation_p.R673G	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	677	Cytoplasmic (Potential).|Protein kinase.				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				0.314286	33.713169	34.786794	11	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93967898	93967898	5365	6	T	C	C	C	700	54	EPHA7	4	4
MUC17	140453	broad.mit.edu	37	7	100679879	100679879	+	Missense_Mutation	SNP	C	T	T	rs71273404		TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100679879C>T	uc003uxp.1	+	c.5182C>T	c.(5182-5184)CGT>TGT	p.R1728C	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1728	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)													0.084211	4.175519	37.507536	16	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100679879	100679879	10368	7	C	T	T	T	299	23	MUC17	1	1
MUC17	140453	broad.mit.edu	37	7	100682595	100682595	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100682595C>G	uc003uxp.1	+	c.7898C>G	c.(7897-7899)ACT>AGT	p.T2633S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2633	Extracellular (Potential).|59 X approximate tandem repeats.|42.|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)													0.23913	89.905775	98.479823	33	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100682595	100682595	10368	7	C	G	G	G	260	20	MUC17	3	3
KCND2	3751	broad.mit.edu	37	7	120373105	120373105	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120373105C>A	uc003vjj.1	+	c.1264C>A	c.(1264-1266)CGA>AGA	p.R422R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	422	Cytoplasmic (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)													0.407666	367.946134	370.07618	117	170	KEEP	---	---	---	---	capture		Silent	SNP	120373105	120373105	8324	7	C	A	A	A	243	19	KCND2	1	1
PTPRZ1	5803	broad.mit.edu	37	7	121684623	121684623	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121684623G>T	uc003vjy.2	+	c.6084_splice	c.e23+1	p.Q2028_splice	PTPRZ1_uc003vjz.2_Splice_Site_SNP_p.Q1161_splice|PTPRZ1_uc011knt.1_Splice_Site_SNP_p.Q618_splice	NM_002851	NP_002842			protein tyrosine phosphatase, receptor-type,						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														0.327273	51.236786	52.689207	18	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	121684623	121684623	13272	7	G	T	T	T	572	44	PTPRZ1	5	2
AASS	10157	broad.mit.edu	37	7	121733185	121733185	+	Silent	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121733185A>C	uc003vka.2	-	c.1683T>G	c.(1681-1683)CTT>CTG	p.L561L	AASS_uc011knu.1_Non-coding_Transcript|AASS_uc011knv.1_Non-coding_Transcript|AASS_uc003vkb.2_Silent_p.L561L|AASS_uc011knw.1_Silent_p.L49L	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	561	Saccharopine dehydrogenase.				oxidation-reduction process|protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			ovary(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.340426	145.846161	149.024781	48	93	KEEP	---	---	---	---	capture		Silent	SNP	121733185	121733185	25	7	A	C	C	C	54	5	AASS	4	4
ASB15	142685	broad.mit.edu	37	7	123264718	123264718	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123264718G>T	uc003vku.1	+	c.547G>T	c.(547-549)GAA>TAA	p.E183*	ASB15_uc003vkv.1_Nonsense_Mutation_p.E183*|ASB15_uc003vkw.1_Nonsense_Mutation_p.E183*	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	183	ANK 3.				intracellular signal transduction					lung(1)	1												OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.12426	24.969702	48.28643	21	148	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123264718	123264718	1037	7	G	T	T	T	585	45	ASB15	5	2
POT1	25913	broad.mit.edu	37	7	124464083	124464083	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:124464083G>C	uc003vlm.2	-	c.1838C>G	c.(1837-1839)ACA>AGA	p.T613R	POT1_uc011koe.1_Non-coding_Transcript|POT1_uc003vlk.2_Non-coding_Transcript|POT1_uc003vll.2_Non-coding_Transcript|POT1_uc003vlo.2_Missense_Mutation_p.T482R|POT1_uc003vln.2_Non-coding_Transcript	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	613					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)								0.290323	26.160858	27.383142	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124464083	124464083	12689	7	G	C	C	C	624	48	POT1	3	3
GRM8	2918	broad.mit.edu	37	7	126173116	126173116	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173116G>T	uc003vlr.2	-	c.2320C>A	c.(2320-2322)CCA>ACA	p.P774T	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.P774T|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	774	Cytoplasmic (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)									0.333333	63.973352	65.745922	24	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126173116	126173116	7082	7	G	T	T	T	559	43	GRM8	2	2
PLXNA4	91584	broad.mit.edu	37	7	132192419	132192419	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:132192419C>A	uc003vra.3	-	c.1034G>T	c.(1033-1035)CGG>CTG	p.R345L	PLXNA4_uc003vrc.2_Missense_Mutation_p.R345L|PLXNA4_uc003vrb.2_Missense_Mutation_p.R345L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	345	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.436975	160.914597	161.319651	52	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132192419	132192419	12548	7	C	A	A	A	299	23	PLXNA4	1	1
HIPK2	28996	broad.mit.edu	37	7	139288933	139288933	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139288933G>A	uc003vvf.3	-	c.2149C>T	c.(2149-2151)CCC>TCC	p.P717S	HIPK2_uc003vvd.3_Missense_Mutation_p.P690S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	717	Interaction with SKI and SMAD1.			PPA -> SPT (in Ref. 4; AAG35710).	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)									363				0.333333	143.219729	147.364986	56	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139288933	139288933	7402	7	G	A	A	A	533	41	HIPK2	2	2
DENND2A	27147	broad.mit.edu	37	7	140223132	140223132	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140223132G>A	uc010lnj.2	-	c.2640C>T	c.(2638-2640)GAC>GAT	p.D880D	DENND2A_uc011kre.1_Non-coding_Transcript|DENND2A_uc010lnk.2_Silent_p.D880D|DENND2A_uc003vvw.2_Silent_p.D880D	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	880										ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.166667	7.086693	9.614061	4	20	KEEP	---	---	---	---	capture		Silent	SNP	140223132	140223132	4608	7	G	A	A	A	516	40	DENND2A	1	1
OR2A2	442361	broad.mit.edu	37	7	143807167	143807167	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143807167G>A	uc011ktz.1	+	c.492G>A	c.(490-492)AGG>AGA	p.R164R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.185841	41.707759	52.162391	21	92	KEEP	---	---	---	---	capture		Silent	SNP	143807167	143807167	11383	7	G	A	A	A	568	44	OR2A2	2	2
DGKB	1607	broad.mit.edu	37	7	14722411	14722411	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:14722411G>A	uc003ssz.2	-	c.885C>T	c.(883-885)ATC>ATT	p.I295I	DGKB_uc011jxt.1_Silent_p.I288I|DGKB_uc003sta.2_Silent_p.I295I|DGKB_uc011jxu.1_Silent_p.I295I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	295					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)					800				0.434783	56.900952	57.069547	20	26	KEEP	---	---	---	---	capture		Silent	SNP	14722411	14722411	4645	7	G	A	A	A	577	45	DGKB	2	2
ZNF862	643641	broad.mit.edu	37	7	149559371	149559371	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149559371G>A	uc010lpn.2	+	c.3122G>A	c.(3121-3123)CGG>CAG	p.R1041Q	ZNF862_uc003wgm.2_Non-coding_Transcript	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	1041					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1														0.181818	7.886802	9.980029	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149559371	149559371	18798	7	G	A	A	A	507	39	ZNF862	1	1
GIMAP1	170575	broad.mit.edu	37	7	150417174	150417174	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150417174C>T	uc003whp.2	+	c.106C>T	c.(106-108)CGG>TGG	p.R36W	GIMAP1_uc003whq.2_Missense_Mutation_p.R28W	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	28	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.393204	462.430628	466.483332	162	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150417174	150417174	6647	7	C	T	T	T	347	27	GIMAP1	1	1
ABP1	26	broad.mit.edu	37	7	150554366	150554366	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150554366G>T	uc003wia.1	+	c.808G>T	c.(808-810)GGC>TGC	p.G270C	ABP1_uc003why.1_Missense_Mutation_p.G270C|ABP1_uc003whz.1_Missense_Mutation_p.G270C	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	270					amine metabolic process|oxidation-reduction process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	Pancreas(195;1227 3054 24912 28503)								0.48	37.511352	37.519087	12	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150554366	150554366	99	7	G	T	T	T	559	43	ABP1	2	2
HTR5A	3361	broad.mit.edu	37	7	154863018	154863018	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154863018C>A	uc003wlu.1	+	c.409C>A	c.(409-411)CTG>ATG	p.L137M		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	137	Helical; Name=3; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)										0.545455	56.361938	56.4232	18	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154863018	154863018	7750	7	C	A	A	A	311	24	HTR5A	2	2
HTR5A	3361	broad.mit.edu	37	7	154876139	154876139	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154876139C>G	uc003wlu.1	+	c.1016C>G	c.(1015-1017)ACG>AGG	p.T339R		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	339	Helical; Name=7; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)										0.147287	38.456795	53.855291	19	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154876139	154876139	7750	7	C	G	G	G	247	19	HTR5A	3	3
HOXA3	3200	broad.mit.edu	37	7	27149875	27149875	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27149875G>C	uc011jzl.1	-	c.385C>G	c.(385-387)CAG>GAG	p.Q129E	HOXA3_uc011jzk.1_5'UTR|HOXA3_uc003syk.2_Missense_Mutation_p.Q129E	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	129	Pro-rich.				angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(2)	2						Esophageal Squamous(136;1368 1743 5685 7935 50360)								0.339623	56.239108	57.441667	18	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27149875	27149875	7585	7	G	C	C	C	585	45	HOXA3	3	3
WIPF3	644150	broad.mit.edu	37	7	29943995	29943995	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29943995G>T	uc003taj.1	+	c.1445G>T	c.(1444-1446)TGT>TTT	p.C482F		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	482					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	actin binding			ovary(1)	1														0.398844	202.501526	204.059967	69	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29943995	29943995	17943	7	G	T	T	T	624	48	WIPF3	2	2
CCDC129	223075	broad.mit.edu	37	7	31682379	31682379	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31682379C>A	uc011kae.1	+	c.1473C>A	c.(1471-1473)TCC>TCA	p.S491S	CCDC129_uc011kad.1_Silent_p.S475S|CCDC129_uc003tcj.1_Silent_p.S465S|CCDC129_uc003tci.1_Silent_p.S316S|CCDC129_uc003tck.1_Silent_p.S373S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	465											0														0.41206	241.113339	242.457033	82	117	KEEP	---	---	---	---	capture		Silent	SNP	31682379	31682379	2884	7	C	A	A	A	275	22	CCDC129	2	2
GPR141	353345	broad.mit.edu	37	7	37780805	37780805	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37780805G>T	uc003tfm.1	+	c.810G>T	c.(808-810)TTG>TTT	p.L270F		NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	270	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3										74				0.41206	237.104443	238.450784	82	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37780805	37780805	6923	7	G	T	T	T	581	45	GPR141	2	2
INHBA	3624	broad.mit.edu	37	7	41729829	41729829	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41729829C>G	uc003thq.2	-	c.700G>C	c.(700-702)GGC>CGC	p.G234R	INHBA_uc003thr.2_Missense_Mutation_p.G234R	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	234					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)			0.102041	1.576351	9.517039	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41729829	41729829	8042	7	C	G	G	G	286	22	INHBA	3	3
URGCP	55665	broad.mit.edu	37	7	43916325	43916325	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43916325C>T	uc003tiw.2	-	c.2737G>A	c.(2737-2739)GGC>AGC	p.G913S	URGCP_uc003tiu.2_Missense_Mutation_p.G870S|URGCP_uc003tiv.2_Missense_Mutation_p.G838S|URGCP_uc003tix.2_Missense_Mutation_p.G904S|URGCP_uc003tiy.2_Missense_Mutation_p.G870S|URGCP_uc003tiz.2_Missense_Mutation_p.G870S|URGCP_uc011kbj.1_Missense_Mutation_p.G870S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	913					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)	3														0.419753	103.441976	103.895527	34	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43916325	43916325	17588	7	C	T	T	T	299	23	URGCP	1	1
COBL	23242	broad.mit.edu	37	7	51258706	51258706	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:51258706G>A	uc003tps.2	-	c.526C>T	c.(526-528)CCT>TCT	p.P176S	COBL_uc003tpr.3_Missense_Mutation_p.P176S|COBL_uc011kcl.1_Missense_Mutation_p.P176S|COBL_uc010kzc.2_Missense_Mutation_p.P176S|COBL_uc003tpt.2_Missense_Mutation_p.P176S|COBL_uc003tpp.3_5'UTR|COBL_uc003tpq.3_Missense_Mutation_p.P92S	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	176										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.311111	35.620268	37.058148	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51258706	51258706	3791	7	G	A	A	A	533	41	COBL	2	2
TNRC18	84629	broad.mit.edu	37	7	5360212	5360212	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5360212C>G	uc003soi.3	-	c.6587G>C	c.(6586-6588)CGG>CCG	p.R2196P		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2196							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)										0.384615	26.448502	26.749811	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5360212	5360212	16880	7	C	G	G	G	299	23	TNRC18	3	3
LANCL2	55915	broad.mit.edu	37	7	55468883	55468883	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55468883T>A	uc003tqp.2	+	c.695T>A	c.(694-696)ATT>AAT	p.I232N		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	232					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)	1	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)											0.333333	69.477853	71.248172	24	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55468883	55468883	8944	7	T	A	A	A	676	52	LANCL2	3	3
PCLO	27445	broad.mit.edu	37	7	82544953	82544953	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82544953C>G	uc003uhx.2	-	c.12349G>C	c.(12349-12351)GAT>CAT	p.D4117H	PCLO_uc003uhv.2_Missense_Mutation_p.D4117H|PCLO_uc010lec.2_Missense_Mutation_p.D1082H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4048					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														0.390805	100.255093	101.185758	34	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82544953	82544953	12003	7	C	G	G	G	390	30	PCLO	3	3
ABCB1	5243	broad.mit.edu	37	7	87174155	87174155	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87174155C>G	uc003uiz.1	-	c.2048G>C	c.(2047-2049)AGT>ACT	p.S683T	ABCB1_uc011khc.1_Missense_Mutation_p.S619T	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	683	Cytoplasmic (Potential).					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.150289	50.833138	71.113455	26	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87174155	87174155	41	7	C	G	G	G	260	20	ABCB1	3	3
ANKIB1	54467	broad.mit.edu	37	7	92017170	92017170	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92017170G>T	uc003ulw.2	+	c.1811G>T	c.(1810-1812)AGA>ATA	p.R604I	ANKIB1_uc010lew.1_5'UTR	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	604	Potential.						protein binding|zinc ion binding				0	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)											0.25	33.320872	36.50422	14	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92017170	92017170	633	7	G	T	T	T	429	33	ANKIB1	2	2
GNG11	2791	broad.mit.edu	37	7	93555527	93555527	+	Silent	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:93555527A>G	uc003und.2	+	c.221A>G	c.(220-222)TAA>TGA	p.*74*		NM_004126	NP_004117	P61952	GBG11_HUMAN	guanine nucleotide binding protein gamma 11	74					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			kidney(1)	1	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)											0.415929	151.998747	152.697187	47	66	KEEP	---	---	---	---	capture		Silent	SNP	93555527	93555527	6793	7	A	G	G	G	167	13	GNG11	4	4
GATS	352954	broad.mit.edu	37	7	99869494	99869494	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99869494A>G	uc003uua.3	-	c.113T>C	c.(112-114)CTG>CCG	p.L38P	GATS_uc003uty.3_Non-coding_Transcript|GATS_uc003utz.3_Non-coding_Transcript|GATS_uc010lgt.2_Non-coding_Transcript|GATS_uc010lgu.2_Non-coding_Transcript	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	38											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)									9				0.272727	7.822831	8.333303	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99869494	99869494	6528	7	A	G	G	G	91	7	GATS	4	4
TM7SF4	81501	broad.mit.edu	37	8	105360972	105360972	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105360972C>T	uc003ylx.1	+	c.192C>T	c.(190-192)TCC>TCT	p.S64S		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	64	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.491935	195.268128	195.275214	61	63	KEEP	---	---	---	---	capture		Silent	SNP	105360972	105360972	16506	8	C	T	T	T	301	24	TM7SF4	2	2
TM7SF4	81501	broad.mit.edu	37	8	105361102	105361102	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105361102T>A	uc003ylx.1	+	c.322T>A	c.(322-324)TTG>ATG	p.L108M		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	108	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.162162	32.379068	44.427703	18	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105361102	105361102	16506	8	T	A	A	A	725	56	TM7SF4	3	3
SOX7	83595	broad.mit.edu	37	8	10583458	10583458	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10583458G>A	uc011kwz.1	-	c.1113C>T	c.(1111-1113)AGC>AGT	p.S371S	SOX7_uc003wtf.2_Silent_p.S319S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	319	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	promoter binding|transcription repressor activity				0				COAD - Colon adenocarcinoma(149;0.0732)										0.444444	34.395057	34.46786	12	15	KEEP	---	---	---	---	capture		Silent	SNP	10583458	10583458	15456	8	G	A	A	A	542	42	SOX7	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110510782	110510782	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110510782G>A	uc003yne.2	+	c.10691G>A	c.(10690-10692)CGG>CAG	p.R3564Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3564	Extracellular (Potential).				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)											0.137255	32.972036	52.452816	21	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110510782	110510782	12397	8	G	A	A	A	507	39	PKHD1L1	1	1
KCNK9	51305	broad.mit.edu	37	8	140630830	140630830	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:140630830C>G	uc003yvf.1	-	c.796G>C	c.(796-798)GGA>CGA	p.G266R	KCNK9_uc003yvg.1_Missense_Mutation_p.G266R|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	266	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)											0.247059	44.078243	49.104774	21	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140630830	140630830	8377	8	C	G	G	G	299	23	KCNK9	3	3
KCNK9	51305	broad.mit.edu	37	8	140630832	140630832	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:140630832G>A	uc003yvf.1	-	c.794C>T	c.(793-795)GCC>GTC	p.A265V	KCNK9_uc003yvg.1_Missense_Mutation_p.A265V|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	265	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)											0.217949	35.365982	41.064322	17	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140630832	140630832	8377	8	G	A	A	A	546	42	KCNK9	2	2
PARP10	84875	broad.mit.edu	37	8	145058997	145058997	+	Silent	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145058997A>T	uc011lku.1	-	c.1209T>A	c.(1207-1209)TCT>TCA	p.S403S	PARP10_uc003zak.3_Silent_p.S97S|PARP10_uc003zal.3_Silent_p.S391S|PARP10_uc011lkv.1_Non-coding_Transcript|PARP10_uc003zam.2_Silent_p.S391S|PARP10_uc010mfn.1_Silent_p.S306S|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	391						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(1)|pancreas(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.647887	285.103053	287.833794	92	50	KEEP	---	---	---	---	capture		Silent	SNP	145058997	145058997	11872	8	A	T	T	T	184	15	PARP10	3	3
ZNF251	90987	broad.mit.edu	37	8	145947114	145947114	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145947114C>T	uc003zdv.3	-	c.1931G>A	c.(1930-1932)CGT>CAT	p.R644H		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	644	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)										0.152778	18.779486	27.084995	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145947114	145947114	18387	8	C	T	T	T	247	19	ZNF251	1	1
PSD3	23362	broad.mit.edu	37	8	18662320	18662320	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:18662320T>A	uc003wza.2	-	c.1723A>T	c.(1723-1725)AGT>TGT	p.S575C	PSD3_uc003wyy.2_Missense_Mutation_p.S41C|PSD3_uc003wyz.2_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	575	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)										0.395973	173.991814	175.402923	59	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18662320	18662320	13101	8	T	A	A	A	715	55	PSD3	3	3
NEFL	4747	broad.mit.edu	37	8	24812994	24812994	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24812994C>T	uc003xee.2	-	c.1036G>A	c.(1036-1038)GCT>ACT	p.A346T		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	346	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)										0.6	27.877005	28.008046	9	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24812994	24812994	10714	8	C	T	T	T	351	27	NEFL	1	1
CSMD1	64478	broad.mit.edu	37	8	3046498	3046498	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3046498T>A	uc011kwk.1	-	c.5437A>T	c.(5437-5439)ACA>TCA	p.T1813S	CSMD1_uc011kwj.1_Missense_Mutation_p.T1205S|CSMD1_uc003wqe.2_Missense_Mutation_p.T969S|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1813	Extracellular (Potential).|CUB 11.					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)										0.444444	36.197717	36.270075	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3046498	3046498	4085	8	T	A	A	A	741	57	CSMD1	3	3
PXDNL	137902	broad.mit.edu	37	8	52321170	52321170	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52321170A>T	uc003xqu.3	-	c.3014T>A	c.(3013-3015)GTG>GAG	p.V1005E	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1005					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.666667	31.553418	31.922285	10	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52321170	52321170	13306	8	A	T	T	T	78	6	PXDNL	3	3
PCMTD1	115294	broad.mit.edu	37	8	52758276	52758276	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52758276C>A	uc003xqx.3	-	c.355G>T	c.(355-357)GAA>TAA	p.E119*	PCMTD1_uc003xqw.3_Nonsense_Mutation_p.E119*|PCMTD1_uc011ldn.1_5'UTR|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Nonsense_Mutation_p.E119*	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	119						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)												0.297297	28.610604	29.969905	11	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52758276	52758276	12006	8	C	A	A	A	390	30	PCMTD1	5	2
TOX	9760	broad.mit.edu	37	8	59764213	59764213	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59764213C>T	uc003xtw.1	-	c.563G>A	c.(562-564)AGT>AAT	p.S188N		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	188						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				Pancreas(161;610 1969 17913 21374 22725)				158				0.512397	192.337824	192.353715	62	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59764213	59764213	16919	8	C	T	T	T	260	20	TOX	2	2
ZFHX4	79776	broad.mit.edu	37	8	77767626	77767626	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77767626G>T	uc003yav.2	+	c.8334G>T	c.(8332-8334)ATG>ATT	p.M2778I	ZFHX4_uc003yau.1_Missense_Mutation_p.M2823I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M2778I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2778					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)											0.418033	150.538198	151.243562	51	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77767626	77767626	18223	8	G	T	T	T	611	47	ZFHX4	2	2
FABP12	646486	broad.mit.edu	37	8	82441714	82441714	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82441714C>G	uc011lfp.1	-	c.205G>C	c.(205-207)GAA>CAA	p.E69Q	FABP12_uc003ycg.3_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	69							lipid binding|transporter activity				0														0.232258	93.141441	103.302071	36	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82441714	82441714	5553	8	C	G	G	G	416	32	FABP12	3	3
FAM82B	51115	broad.mit.edu	37	8	87498840	87498840	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87498840C>G	uc003ydu.2	-	c.368G>C	c.(367-369)CGG>CCG	p.R123P	FAM82B_uc011lfz.1_Missense_Mutation_p.R123P|FAM82B_uc011lga.1_Missense_Mutation_p.R123P	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	123						microtubule|spindle pole	binding			ovary(1)	1														0.09375	2.435814	13.026968	6	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87498840	87498840	5858	8	C	G	G	G	299	23	FAM82B	3	3
CNGB3	54714	broad.mit.edu	37	8	87755832	87755832	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87755832G>T	uc003ydx.2	-	c.24C>A	c.(22-24)GTC>GTA	p.V8V		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	8	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.169231	40.166887	53.633645	22	108	KEEP	---	---	---	---	capture		Silent	SNP	87755832	87755832	3739	8	G	T	T	T	574	45	CNGB3	2	2
CNBD1	168975	broad.mit.edu	37	8	87878769	87878769	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87878769G>T	uc003ydy.2	+	c.46G>T	c.(46-48)GCT>TCT	p.A16S		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	16										ovary(3)	3														0.506024	128.046119	128.048677	42	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87878769	87878769	3729	8	G	T	T	T	442	34	CNBD1	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88885200	88885200	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88885200G>T	uc003ydz.2	-	c.1000C>A	c.(1000-1002)CAG>AAG	p.Q334K		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	334	WD 2.									ovary(1)	1														0.133333	8.119235	13.992722	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88885200	88885200	4443	8	G	T	T	T	611	47	DCAF4L2	2	2
MMP16	4325	broad.mit.edu	37	8	89179914	89179914	+	Silent	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89179914T>C	uc003yeb.3	-	c.693A>G	c.(691-693)GGA>GGG	p.G231G	MMP16_uc003yec.2_Silent_p.G231G	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	231	Extracellular (Potential).				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														0.072464	-2.081473	10.902821	5	64	KEEP	---	---	---	---	capture		Silent	SNP	89179914	89179914	10045	8	T	C	C	C	795	62	MMP16	4	4
TMEM67	91147	broad.mit.edu	37	8	94777668	94777668	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:94777668A>T	uc011lgk.1	+	c.541A>T	c.(541-543)AGC>TGC	p.S181C	TMEM67_uc010mat.1_Missense_Mutation_p.S96C|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.S100C	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	181					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)											0.126126	21.869867	37.015268	14	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94777668	94777668	16735	8	A	T	T	T	91	7	TMEM67	3	3
KIAA1429	25962	broad.mit.edu	37	8	95523891	95523891	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95523891G>A	uc003ygo.1	-	c.2912C>T	c.(2911-2913)ACG>ATG	p.T971M	KIAA1429_uc003ygp.2_Missense_Mutation_p.T971M|KIAA1429_uc010maz.1_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	971					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)											0.090909	4.875509	30.822721	14	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95523891	95523891	8540	8	G	A	A	A	520	40	KIAA1429	1	1
KIAA1429	25962	broad.mit.edu	37	8	95541452	95541452	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95541452C>A	uc003ygo.1	-	c.726G>T	c.(724-726)GAG>GAT	p.E242D	KIAA1429_uc003ygp.2_Missense_Mutation_p.E242D|KIAA1429_uc010maz.1_5'Flank	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	242	Glu-rich.				mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)											0.551724	98.801504	98.936123	32	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95541452	95541452	8540	8	C	A	A	A	311	24	KIAA1429	2	2
KCNS2	3788	broad.mit.edu	37	8	99441529	99441529	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99441529C>A	uc003yin.2	+	c.1322C>A	c.(1321-1323)TCG>TAG	p.S441*		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	441	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			Pancreas(138;844 2489 9202 24627)								0.564417	299.520378	300.111078	92	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99441529	99441529	8394	8	C	A	A	A	403	31	KCNS2	5	1
OSR2	116039	broad.mit.edu	37	8	99961221	99961221	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99961221C>A	uc011lgx.1	+	c.404C>A	c.(403-405)CCG>CAG	p.P135Q	OSR2_uc010mbn.2_Missense_Mutation_p.P14Q|OSR2_uc003yir.2_Missense_Mutation_p.P14Q|OSR2_uc003yiq.2_Missense_Mutation_p.P14Q	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	14					bone morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|mesonephros development|metanephros development|middle ear morphogenesis|odontogenesis|osteoblast proliferation|palate development|positive regulation of epithelial cell proliferation|positive regulation of gene expression	nucleus	sequence-specific DNA binding|transcription activator activity|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)											0.654545	115.504432	116.663347	36	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99961221	99961221	11705	8	C	A	A	A	299	23	OSR2	1	1
GRIN3A	116443	broad.mit.edu	37	9	104432502	104432502	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104432502G>T	uc004bbp.1	-	c.2192C>A	c.(2191-2193)ACA>AAA	p.T731K	GRIN3A_uc004bbq.1_Missense_Mutation_p.T731K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	731	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.248227	87.655946	95.787333	35	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104432502	104432502	7062	9	G	T	T	T	624	48	GRIN3A	2	2
SVEP1	79987	broad.mit.edu	37	9	113168917	113168917	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113168917C>G	uc010mtz.2	-	c.8963G>C	c.(8962-8964)AGG>ACG	p.R2988T	SVEP1_uc010mty.2_Missense_Mutation_p.R914T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2988	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.317073	28.645942	29.874159	13	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113168917	113168917	15940	9	C	G	G	G	312	24	SVEP1	3	3
LPAR1	1902	broad.mit.edu	37	9	113704157	113704157	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113704157T>C	uc011lwm.1	-	c.340A>G	c.(340-342)ACT>GCT	p.T114A	LPAR1_uc004bfa.2_Missense_Mutation_p.T113A|LPAR1_uc004bfb.2_Missense_Mutation_p.T113A|LPAR1_uc004bfc.2_Missense_Mutation_p.T113A|LPAR1_uc011lwn.1_Missense_Mutation_p.T95A|LPAR1_uc011lwo.1_Missense_Mutation_p.T114A|LPAR1_uc010mub.2_Missense_Mutation_p.T113A	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	113	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						NSCLC(115;661 2323 9836 34256)								0.379433	337.37711	340.999978	107	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113704157	113704157	9277	9	T	C	C	C	741	57	LPAR1	4	4
ASTN2	23245	broad.mit.edu	37	9	119582901	119582901	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119582901G>T	uc004bjs.1	-	c.2202C>A	c.(2200-2202)TTC>TTA	p.F734L	ASTN2_uc004bjr.1_Missense_Mutation_p.F730L|ASTN2_uc004bjt.1_Missense_Mutation_p.F683L	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	734	Extracellular (Potential).|EGF-like 3.					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.27451	99.873457	106.888634	42	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119582901	119582901	1084	9	G	T	T	T	425	33	ASTN2	2	2
GARNL3	84253	broad.mit.edu	37	9	130116205	130116205	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130116205G>T	uc011mae.1	+	c.1624G>T	c.(1624-1626)GTT>TTT	p.V542F	GARNL3_uc011mad.1_Missense_Mutation_p.V520F|GARNL3_uc010mxi.2_5'Flank	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	542	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			central_nervous_system(1)|skin(1)	2														0.236364	33.347842	36.841693	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130116205	130116205	6505	9	G	T	T	T	572	44	GARNL3	2	2
GLE1	2733	broad.mit.edu	37	9	131271368	131271368	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131271368G>T	uc004bvj.2	+	c.313G>T	c.(313-315)GGA>TGA	p.G105*	GLE1_uc004bvi.2_Nonsense_Mutation_p.G105*|GLE1_uc010myd.2_5'UTR	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	105					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0														0.466667	42.84682	42.875897	14	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	131271368	131271368	6703	9	G	T	T	T	611	47	GLE1	5	2
METTL11A	28989	broad.mit.edu	37	9	132397704	132397704	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:132397704C>T	uc004byd.1	+	c.633C>T	c.(631-633)CCC>CCT	p.P211P	METTL11A_uc010myw.1_Non-coding_Transcript|METTL11A_uc011mbs.1_3'UTR|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	211					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0														0.266667	17.884121	19.362656	8	22	KEEP	---	---	---	---	capture		Silent	SNP	132397704	132397704	9884	9	C	T	T	T	288	23	METTL11A	1	1
SETX	23064	broad.mit.edu	37	9	135205501	135205501	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135205501A>G	uc004cbk.2	-	c.1484T>C	c.(1483-1485)CTT>CCT	p.L495P	SETX_uc004cbj.2_Missense_Mutation_p.L114P|SETX_uc010mzt.2_Missense_Mutation_p.L114P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	495					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)										0.046512	-14.957036	13.329576	6	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135205501	135205501	14630	9	A	G	G	G	39	3	SETX	4	4
DBH	1621	broad.mit.edu	37	9	136501612	136501612	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136501612C>A	uc004cel.2	+	c.119C>A	c.(118-120)TCG>TAG	p.S40*		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	40	Intragranular (Potential).				hormone biosynthetic process|oxidation-reduction process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)									0.5	24.900466	24.900466	8	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	136501612	136501612	4421	9	C	A	A	A	403	31	DBH	5	1
ARID3C	138715	broad.mit.edu	37	9	34622422	34622422	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34622422C>T	uc011lon.1	-	c.970G>A	c.(970-972)GTG>ATG	p.V324M	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	324	REKLES.|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)										0.416667	26.643768	26.789575	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34622422	34622422	933	9	C	T	T	T	221	17	ARID3C	2	2
CCIN	881	broad.mit.edu	37	9	36171016	36171016	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36171016T>C	uc003zzb.3	+	c.1517T>C	c.(1516-1518)GTC>GCC	p.V506A		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	506	Kelch 5.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)	1			STAD - Stomach adenocarcinoma(86;0.228)											0.174757	34.579361	44.88135	18	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36171016	36171016	3003	9	T	C	C	C	754	58	CCIN	4	4
ALDH1B1	219	broad.mit.edu	37	9	38396745	38396745	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:38396745G>T	uc004aay.2	+	c.1000G>T	c.(1000-1002)GAG>TAG	p.E334*		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	334					carbohydrate metabolic process|oxidation-reduction process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity				0				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)									0.5	51.073988	51.073988	17	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38396745	38396745	496	9	G	T	T	T	585	45	ALDH1B1	5	2
GLDC	2731	broad.mit.edu	37	9	6556186	6556186	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6556186C>A	uc003zkc.2	-	c.2169G>T	c.(2167-2169)CAG>CAT	p.Q723H		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	723					glycine catabolic process|oxidation-reduction process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.625	64.90688	65.345718	20	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6556186	6556186	6701	9	C	A	A	A	311	24	GLDC	2	2
KDM4C	23081	broad.mit.edu	37	9	6984340	6984340	+	Silent	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6984340A>G	uc003zkh.2	+	c.1290A>G	c.(1288-1290)GAA>GAG	p.E430E	KDM4C_uc010mhu.2_Silent_p.E452E|KDM4C_uc011lmi.1_Silent_p.E430E|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.2_Silent_p.E430E|KDM4C_uc011lmk.1_Silent_p.E249E|KDM4C_uc011lml.1_Silent_p.E117E	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	430					oxidation-reduction process|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1														0.595041	253.026505	253.98309	72	49	KEEP	---	---	---	---	capture		Silent	SNP	6984340	6984340	8436	9	A	G	G	G	37	3	KDM4C	4	4
FXN	2395	broad.mit.edu	37	9	71687583	71687583	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71687583G>A	uc004aha.2	+	c.538G>A	c.(538-540)GTG>ATG	p.V180M	FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Silent_p.A182A	NM_000144	NP_000135	Q16595	FRDA_HUMAN	frataxin isoform 1 preproprotein	180					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding				0														0.241935	35.199833	38.962237	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71687583	71687583	6365	9	G	A	A	A	520	40	FXN	1	1
ARMCX3	51566	broad.mit.edu	37	X	100880242	100880242	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100880242G>T	uc004ehz.1	+	c.273G>T	c.(271-273)AGG>AGT	p.R91S	ARMCX3_uc004eia.1_Missense_Mutation_p.R91S|ARMCX3_uc004eib.1_Missense_Mutation_p.R91S|ARMCX3_uc004eic.1_Missense_Mutation_p.R91S	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	91						integral to membrane	binding			ovary(1)|lung(1)	2														0.45283	345.302893	345.808854	120	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100880242	100880242	979	23	G	T	T	T	555	43	ARMCX3	2	2
ARMCX5	64860	broad.mit.edu	37	X	101857109	101857109	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101857109G>A	uc004ejg.2	+	c.40G>A	c.(40-42)GCT>ACT	p.A14T	ARMCX5_uc004ejh.2_Missense_Mutation_p.A14T	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	14							binding			ovary(1)	1														0.39834	268.156664	270.330949	96	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101857109	101857109	980	23	G	A	A	A	546	42	ARMCX5	2	2
NXF3	56000	broad.mit.edu	37	X	102337996	102337996	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102337996G>T	uc004eju.2	-	c.627C>A	c.(625-627)GCC>GCA	p.A209A	NXF3_uc010noi.1_Silent_p.A59A|NXF3_uc011mrw.1_Silent_p.A209A|NXF3_uc011mrx.1_Silent_p.A120A	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	209						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.459459	519.095809	519.626323	170	200	KEEP	---	---	---	---	capture		Silent	SNP	102337996	102337996	11190	23	G	T	T	T	600	47	NXF3	2	2
TMEM31	203562	broad.mit.edu	37	X	102968777	102968777	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102968777G>A	uc004elh.2	+	c.358G>A	c.(358-360)GGA>AGA	p.G120R	GLRA4_uc011mse.1_Intron	NM_182541	NP_872347	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	120	Helical; (Potential).					integral to membrane					0														0.268058	452.893968	483.063578	167	456	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102968777	102968777	16694	23	G	A	A	A	507	39	TMEM31	1	1
IL1RAPL2	26280	broad.mit.edu	37	X	105011536	105011536	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105011536T>A	uc004elz.1	+	c.1943T>A	c.(1942-1944)CTA>CAA	p.L648Q		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	648	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3														0.391608	166.86928	168.340224	56	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105011536	105011536	7963	23	T	A	A	A	689	53	IL1RAPL2	3	3
COL4A5	1287	broad.mit.edu	37	X	107811887	107811887	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107811887G>T	uc004enz.1	+	c.305G>T	c.(304-306)GGG>GTG	p.G102V	COL4A5_uc011mso.1_Missense_Mutation_p.G102V	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	102	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.367347	151.307934	153.583358	54	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107811887	107811887	3832	23	G	T	T	T	559	43	COL4A5	2	2
COL4A5	1287	broad.mit.edu	37	X	107930822	107930822	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107930822A>G	uc004enz.1	+	c.4426A>G	c.(4426-4428)ACA>GCA	p.T1476A	COL4A5_uc011mso.1_Missense_Mutation_p.T1473A|COL4A5_uc011msp.1_Missense_Mutation_p.T152A	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1470	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.432787	423.805796	425.013591	132	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107930822	107930822	3832	23	A	G	G	G	130	10	COL4A5	4	4
LONRF3	79836	broad.mit.edu	37	X	118123451	118123451	+	Silent	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118123451T>A	uc004eqw.2	+	c.1140T>A	c.(1138-1140)GCT>GCA	p.A380A	LONRF3_uc004eqx.2_Silent_p.A339A|LONRF3_uc004eqy.2_Non-coding_Transcript|LONRF3_uc004eqz.2_Silent_p.A124A	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	380					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2														0.120567	21.383046	41.281733	17	124	KEEP	---	---	---	---	capture		Silent	SNP	118123451	118123451	9268	23	T	A	A	A	678	53	LONRF3	3	3
ATP1B4	23439	broad.mit.edu	37	X	119509423	119509423	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119509423G>T	uc004esr.2	+	c.759G>T	c.(757-759)CGG>CGT	p.R253R	ATP1B4_uc004esq.2_Silent_p.R249R|ATP1B4_uc011mtx.1_Silent_p.R218R|ATP1B4_uc011mty.1_Silent_p.R210R	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	253	Perinuclear space (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2														0.246835	93.939332	103.163934	39	119	KEEP	---	---	---	---	capture		Silent	SNP	119509423	119509423	1154	23	G	T	T	T	548	43	ATP1B4	2	2
ODZ1	10178	broad.mit.edu	37	X	123870869	123870869	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123870869C>T	uc010nqy.2	-	c.714G>A	c.(712-714)ACG>ACA	p.T238T	ODZ1_uc011muj.1_Silent_p.T238T|ODZ1_uc004euj.2_Silent_p.T238T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	238	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.186111	138.510163	171.676882	67	293	KEEP	---	---	---	---	capture		Silent	SNP	123870869	123870869	11239	23	C	T	T	T	340	27	ODZ1	1	1
FRMPD4	9758	broad.mit.edu	37	X	12722586	12722586	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12722586G>C	uc004cuz.1	+	c.1179G>C	c.(1177-1179)TTG>TTC	p.L393F	FRMPD4_uc011mij.1_Missense_Mutation_p.L385F	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	393	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13														0.42735	143.830652	144.368879	50	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12722586	12722586	6309	23	G	C	C	C	607	47	FRMPD4	3	3
IGSF1	3547	broad.mit.edu	37	X	130416704	130416704	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130416704G>A	uc004ewd.2	-	c.960C>T	c.(958-960)TTC>TTT	p.F320F	IGSF1_uc004ewe.3_Silent_p.F309F|IGSF1_uc004ewf.2_Silent_p.F300F	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	320	Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.371212	144.286345	146.191656	49	83	KEEP	---	---	---	---	capture		Silent	SNP	130416704	130416704	7897	23	G	A	A	A	529	41	IGSF1	2	2
PHF6	84295	broad.mit.edu	37	X	133547965	133547965	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:133547965C>G	uc004exj.2	+	c.698C>G	c.(697-699)GCC>GGC	p.A233G	PHF6_uc004exk.2_Missense_Mutation_p.A233G|PHF6_uc011mvk.1_Missense_Mutation_p.A199G|PHF6_uc004exh.2_Missense_Mutation_p.A234G|PHF6_uc010nrr.2_Missense_Mutation_p.A233G|PHF6_uc004exi.2_Missense_Mutation_p.A234G	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					Colon(100;666 1493 6344 21231 35807)								0.450704	315.269648	315.720702	96	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133547965	133547965	12261	23	C	G	G	G	338	26	PHF6	3	3
ZNF75D	7626	broad.mit.edu	37	X	134421668	134421668	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134421668G>T	uc004eyp.2	-	c.934C>A	c.(934-936)CAG>AAG	p.Q312K	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.Q91K|ZNF75D_uc004eyo.2_Missense_Mutation_p.Q217K	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	312	KRAB.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.157609	52.451624	73.030512	29	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134421668	134421668	18732	23	G	T	T	T	611	47	ZNF75D	2	2
SLC9A6	10479	broad.mit.edu	37	X	135098824	135098824	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135098824C>A	uc004ezk.2	+	c.1257C>A	c.(1255-1257)TTC>TTA	p.F419L	SLC9A6_uc004ezj.2_Missense_Mutation_p.F387L	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	387	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.115385	15.924993	34.873017	15	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135098824	135098824	15215	23	C	A	A	A	415	32	SLC9A6	2	2
FHL1	2273	broad.mit.edu	37	X	135290730	135290730	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135290730G>T	uc004ezo.2	+	c.618G>T	c.(616-618)CAG>CAT	p.Q206H	FHL1_uc010nrz.2_Missense_Mutation_p.Q206H|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_Missense_Mutation_p.Q206H|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Missense_Mutation_p.Q206H|FHL1_uc011mvz.1_Missense_Mutation_p.Q206H|FHL1_uc004ezn.2_Missense_Mutation_p.Q206H|FHL1_uc011mwa.1_Missense_Mutation_p.Q235H|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.Q222H|FHL1_uc004ezr.2_Missense_Mutation_p.S25I	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	206	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)													0.51028	852.817635	852.868903	273	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135290730	135290730	6116	23	G	T	T	T	464	36	FHL1	2	2
GPR112	139378	broad.mit.edu	37	X	135427340	135427340	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135427340C>A	uc004ezu.1	+	c.1475C>A	c.(1474-1476)CCA>CAA	p.P492Q	GPR112_uc010nsb.1_Missense_Mutation_p.P287Q|GPR112_uc010nsc.1_Missense_Mutation_p.P259Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	492	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.028443	-131.48694	32.132155	19	649	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135427340	135427340	6903	23	C	A	A	A	273	21	GPR112	2	2
GPR112	139378	broad.mit.edu	37	X	135427841	135427841	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135427841G>T	uc004ezu.1	+	c.1976G>T	c.(1975-1977)AGG>ATG	p.R659M	GPR112_uc010nsb.1_Missense_Mutation_p.R454M|GPR112_uc010nsc.1_Missense_Mutation_p.R426M	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	659	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.228433	433.466458	489.161983	188	635	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135427841	135427841	6903	23	G	T	T	T	455	35	GPR112	2	2
FMR1NB	158521	broad.mit.edu	37	X	147084781	147084781	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:147084781G>C	uc004fcm.2	+	c.338G>C	c.(337-339)GGC>GCC	p.G113A		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	113	Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.207317	127.180745	146.713546	51	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147084781	147084781	6203	23	G	C	C	C	546	42	FMR1NB	3	3
AFF2	2334	broad.mit.edu	37	X	148038095	148038095	+	Silent	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148038095T>A	uc004fcp.2	+	c.2520T>A	c.(2518-2520)GCT>GCA	p.A840A	AFF2_uc004fcq.2_Silent_p.A830A|AFF2_uc004fcr.2_Silent_p.A801A|AFF2_uc011mxb.1_Silent_p.A805A|AFF2_uc004fcs.2_Silent_p.A807A|AFF2_uc011mxc.1_Silent_p.A481A	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	840					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.647668	418.037102	421.756455	125	68	KEEP	---	---	---	---	capture		Silent	SNP	148038095	148038095	358	23	T	A	A	A	704	55	AFF2	3	3
MAGEA11	4110	broad.mit.edu	37	X	148797451	148797451	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148797451G>T	uc004fdq.2	+	c.305G>T	c.(304-306)CGG>CTG	p.R102L	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.R73L	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	102						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.193416	102.932081	124.214329	47	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148797451	148797451	9542	23	G	T	T	T	507	39	MAGEA11	1	1
MAGEA10	4109	broad.mit.edu	37	X	151304000	151304000	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151304000G>T	uc004ffk.2	-	c.93C>A	c.(91-93)CCC>CCA	p.P31P	MAGEA10_uc004ffl.2_Silent_p.P31P	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	31											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.688679	219.197073	222.557303	73	33	KEEP	---	---	---	---	capture		Silent	SNP	151304000	151304000	9541	23	G	T	T	T	548	43	MAGEA10	2	2
GABRQ	55879	broad.mit.edu	37	X	151820033	151820033	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151820033C>G	uc004ffp.1	+	c.946C>G	c.(946-948)CGG>GGG	p.R316G		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	316						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.10303	33.353327	85.110627	34	296	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151820033	151820033	6426	23	C	G	G	G	347	27	GABRQ	3	3
MAGEA3	4102	broad.mit.edu	37	X	151935268	151935268	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151935268G>A	uc004fgp.2	-	c.899C>T	c.(898-900)TCC>TTC	p.S300F		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	300	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)													0.065789	-21.730614	52.622972	25	355	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151935268	151935268	9546	23	G	A	A	A	533	41	MAGEA3	2	2
PNMA5	114824	broad.mit.edu	37	X	152160070	152160070	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152160070C>T	uc010ntw.2	-	c.73G>A	c.(73-75)GGC>AGC	p.G25S	PNMA5_uc004fha.3_Missense_Mutation_p.G25S|PNMA5_uc010ntx.2_Missense_Mutation_p.G25S|PNMA5_uc004fgy.3_Missense_Mutation_p.G25S	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	25					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.036667	-48.228602	21.590966	11	289	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152160070	152160070	12582	23	C	T	T	T	312	24	PNMA5	2	2
MECP2	4204	broad.mit.edu	37	X	153297826	153297826	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153297826G>T	uc004fjw.2	-	c.245C>A	c.(244-246)TCC>TAC	p.S82Y	MECP2_uc004fjv.2_Missense_Mutation_p.S70Y	NM_001110792	NP_001104262	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 2	70					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.510204	135.920002	135.928273	50	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153297826	153297826	9812	23	G	T	T	T	533	41	MECP2	2	2
TKTL1	8277	broad.mit.edu	37	X	153541000	153541000	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153541000T>A	uc004fkg.2	+	c.740T>A	c.(739-741)TTA>TAA	p.L247*	TKTL1_uc011mzl.1_Nonsense_Mutation_p.L241*|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Nonsense_Mutation_p.L191*	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	247					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.09434	4.570961	22.096108	10	96	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153541000	153541000	16464	23	T	A	A	A	793	61	TKTL1	5	3
PLXNA3	55558	broad.mit.edu	37	X	153688886	153688886	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153688886G>T	uc004flm.2	+	c.363G>T	c.(361-363)CAG>CAT	p.Q121H		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	121	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.666667	49.105406	49.695501	16	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153688886	153688886	12547	23	G	T	T	T	464	36	PLXNA3	2	2
PLXNA3	55558	broad.mit.edu	37	X	153697726	153697726	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153697726G>T	uc004flm.2	+	c.4599G>T	c.(4597-4599)TGG>TGT	p.W1533C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1533	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.705882	38.407097	39.053654	12	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153697726	153697726	12547	23	G	T	T	T	546	42	PLXNA3	2	2
MPP1	4354	broad.mit.edu	37	X	154014616	154014616	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154014616C>A	uc004fmp.1	-	c.540G>T	c.(538-540)AAG>AAT	p.K180N	MPP1_uc010nvg.1_Splice_Site_SNP_p.E161_splice|MPP1_uc011mzv.1_Missense_Mutation_p.K150N|MPP1_uc004fmq.1_Missense_Mutation_p.K134N|MPP1_uc011mzw.1_Missense_Mutation_p.K163N|MPP1_uc010nvh.1_Missense_Mutation_p.K54N	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	180	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.033632	-158.343033	53.190563	30	862	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154014616	154014616	10125	23	C	A	A	A	312	24	MPP1	2	2
F8	2157	broad.mit.edu	37	X	154088834	154088834	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154088834T>C	uc004fmt.2	-	c.6773A>G	c.(6772-6774)AAA>AGA	p.K2258R	F8_uc004fms.2_Missense_Mutation_p.K123R	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2258	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.037152	-49.174567	25.766426	12	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154088834	154088834	5544	23	T	C	C	C	832	64	F8	4	4
ARSF	416	broad.mit.edu	37	X	2990216	2990216	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2990216G>A	uc004cre.1	+	c.161G>A	c.(160-162)AGG>AAG	p.R54K	ARSF_uc004crf.1_Missense_Mutation_p.R54K	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	54						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)												0.408163	122.690246	123.409654	40	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2990216	2990216	1009	23	G	A	A	A	455	35	ARSF	2	2
ARSF	416	broad.mit.edu	37	X	3030288	3030288	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3030288C>T	uc004cre.1	+	c.1464C>T	c.(1462-1464)ACC>ACT	p.T488T	ARSF_uc004crf.1_Silent_p.T488T	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	488						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)												0.463415	59.721041	59.76885	19	22	KEEP	---	---	---	---	capture		Silent	SNP	3030288	3030288	1009	23	C	T	T	T	301	24	ARSF	2	2
FAM47A	158724	broad.mit.edu	37	X	34148219	34148219	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34148219T>C	uc004ddg.2	-	c.2177A>G	c.(2176-2178)GAA>GGA	p.E726G		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	726										ovary(4)|central_nervous_system(1)	5														0.225806	52.224307	58.650252	21	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34148219	34148219	5790	23	T	C	C	C	806	62	FAM47A	4	4
CXorf27	25763	broad.mit.edu	37	X	37850383	37850383	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37850383C>G	uc004ddt.3	+	c.291C>G	c.(289-291)AGC>AGG	p.S97R		NM_012274	NP_036406	O75409	HYPM_HUMAN	Huntingtin interacting protein M	97							DNA binding			central_nervous_system(1)	1														0.454545	31.747896	31.787381	10	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37850383	37850383	4265	23	C	G	G	G	350	27	CXorf27	3	3
NDP	4693	broad.mit.edu	37	X	43809121	43809121	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:43809121C>T	uc004dga.3	-	c.326G>A	c.(325-327)CGA>CAA	p.R109Q		NM_000266	NP_000257	Q00604	NDP_HUMAN	norrin precursor	109	CTCK.				cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception|Wnt receptor signaling pathway	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity				0												OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.3125	12.689715	13.179414	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43809121	43809121	10649	23	C	T	T	T	403	31	NDP	1	1
CCNB3	85417	broad.mit.edu	37	X	50053674	50053674	+	Silent	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50053674G>A	uc004dox.3	+	c.2505G>A	c.(2503-2505)GAG>GAA	p.E835E	CCNB3_uc004doy.2_Silent_p.E835E|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	835					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.096386	6.635576	20.191	8	75	KEEP	---	---	---	---	capture		Silent	SNP	50053674	50053674	3041	23	G	A	A	A	451	35	CCNB3	2	2
CCNB3	85417	broad.mit.edu	37	X	50089666	50089666	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50089666C>A	uc004dox.3	+	c.3670C>A	c.(3670-3672)CGT>AGT	p.R1224S	CCNB3_uc004doy.2_Missense_Mutation_p.R1224S|CCNB3_uc004doz.2_Missense_Mutation_p.R120S|CCNB3_uc010njq.2_Missense_Mutation_p.R116S|CCNB3_uc004dpa.2_Missense_Mutation_p.R63S	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1224					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.669604	502.776947	508.574078	152	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50089666	50089666	3041	23	C	A	A	A	403	31	CCNB3	1	1
IQSEC2	23096	broad.mit.edu	37	X	53267402	53267402	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53267402C>A	uc004dsd.2	-	c.3202G>T	c.(3202-3204)GAC>TAC	p.D1068Y	IQSEC2_uc004dsc.2_Missense_Mutation_p.D863Y	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	1058	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3														0.508772	84.771173	84.774898	29	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53267402	53267402	8121	23	C	A	A	A	390	30	IQSEC2	2	2
PFKFB1	5207	broad.mit.edu	37	X	54987335	54987335	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54987335T>A	uc004dty.1	-	c.239A>T	c.(238-240)CAG>CTG	p.Q80L	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.Q15L	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	80	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1														0.17284	30.299559	38.487974	14	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54987335	54987335	12182	23	T	A	A	A	715	55	PFKFB1	3	3
PFKFB1	5207	broad.mit.edu	37	X	54989706	54989706	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54989706T>C	uc004dty.1	-	c.207A>G	c.(205-207)ATA>ATG	p.I69M	PFKFB1_uc010nkd.1_Missense_Mutation_p.I77M|PFKFB1_uc011mol.1_Intron	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	69	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1														0.668269	988.94253	999.369687	278	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54989706	54989706	12182	23	T	C	C	C	680	53	PFKFB1	4	4
UBQLN2	29978	broad.mit.edu	37	X	56591133	56591133	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:56591133A>C	uc004dus.2	+	c.827A>C	c.(826-828)CAA>CCA	p.Q276P	UBQLN2_uc011moq.1_Missense_Mutation_p.Q276P	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	276						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						Esophageal Squamous(104;218 1492 6022 10838 28884)								0.5	142.752607	142.752607	42	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56591133	56591133	17455	23	A	C	C	C	65	5	UBQLN2	4	4
FAM123B	139285	broad.mit.edu	37	X	63411303	63411303	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63411303C>G	uc004dvo.2	-	c.1864G>C	c.(1864-1866)GAG>CAG	p.E622Q		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	622					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.204082	21.718496	25.706126	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63411303	63411303	5620	23	C	G	G	G	390	30	FAM123B	3	3
PJA1	64219	broad.mit.edu	37	X	68381182	68381182	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:68381182C>A	uc004dxh.2	-	c.1900G>T	c.(1900-1902)GTG>TTG	p.V634L	PJA1_uc011mpi.1_Missense_Mutation_p.V352L|PJA1_uc004dxg.2_Missense_Mutation_p.V446L|PJA1_uc004dxi.2_Missense_Mutation_p.V579L	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	634	RING-type.						zinc ion binding				0														0.421053	25.297548	25.400716	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68381182	68381182	12385	23	C	A	A	A	247	19	PJA1	1	1
AWAT1	158833	broad.mit.edu	37	X	69455988	69455988	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69455988C>A	uc004dxy.2	+	c.254C>A	c.(253-255)ACG>AAG	p.T85K		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	wax synthase 1	85					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	p.T165M(1)		ovary(3)	3														0.379808	243.595884	246.224012	79	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69455988	69455988	1255	23	C	A	A	A	247	19	AWAT1	1	1
NONO	4841	broad.mit.edu	37	X	70510515	70510515	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70510515G>T	uc004dzo.2	+	c.28G>T	c.(28-30)GAG>TAG	p.E10*	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Nonsense_Mutation_p.E10*|NONO_uc004dzp.2_Nonsense_Mutation_p.E10*|NONO_uc011mpv.1_Intron	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	10					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)									130				0.428571	33.794226	33.919045	12	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70510515	70510515	10937	23	G	T	T	T	533	41	NONO	5	2
OGT	8473	broad.mit.edu	37	X	70767788	70767788	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70767788C>G	uc004eaa.1	+	c.563C>G	c.(562-564)CCG>CGG	p.P188R	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.P178R|OGT_uc004eac.2_Missense_Mutation_p.P49R|OGT_uc004ead.2_5'UTR	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	188	TPR 4.				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)													0.227642	65.538963	73.910865	28	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70767788	70767788	11252	23	C	G	G	G	299	23	OGT	3	3
OGT	8473	broad.mit.edu	37	X	70777049	70777049	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70777049C>G	uc004eaa.1	+	c.1325C>G	c.(1324-1326)TCA>TGA	p.S442*	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Nonsense_Mutation_p.S432*|OGT_uc004eac.2_Nonsense_Mutation_p.S303*|OGT_uc004ead.2_Nonsense_Mutation_p.S61*	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	442	TPR 12.				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)													0.393939	41.377789	41.699373	13	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70777049	70777049	11252	23	C	G	G	G	377	29	OGT	5	3
RLIM	51132	broad.mit.edu	37	X	73811612	73811612	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73811612C>T	uc004ebu.2	-	c.1538G>A	c.(1537-1539)CGA>CAA	p.R513Q	RLIM_uc004ebw.2_Missense_Mutation_p.R513Q	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	513					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						Esophageal Squamous(169;1899 1923 14997 18818 32118)								0.307692	22.193212	23.048734	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73811612	73811612	13867	23	C	T	T	T	403	31	RLIM	1	1
GPR174	84636	broad.mit.edu	37	X	78426599	78426599	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78426599C>T	uc004edg.1	+	c.95C>T	c.(94-96)CCA>CTA	p.P32L		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	32	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2														0.435484	76.611611	76.837226	27	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78426599	78426599	6947	23	C	T	T	T	273	21	GPR174	2	2
TBX22	50945	broad.mit.edu	37	X	79279574	79279574	+	Silent	SNP	C	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79279574C>T	uc010nmg.1	+	c.369C>T	c.(367-369)CCC>CCT	p.P123P	TBX22_uc004edi.1_Silent_p.P3P|TBX22_uc004edj.1_Silent_p.P123P	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	123	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			large_intestine(3)|central_nervous_system(2)|lung(1)|ovary(1)	7										298				0.145631	25.908908	38.304606	15	88	KEEP	---	---	---	---	capture		Silent	SNP	79279574	79279574	16184	23	C	T	T	T	301	24	TBX22	2	2
TBX22	50945	broad.mit.edu	37	X	79286261	79286261	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79286261C>A	uc010nmg.1	+	c.1214C>A	c.(1213-1215)CCA>CAA	p.P405Q	TBX22_uc004edi.1_Missense_Mutation_p.P285Q|TBX22_uc004edj.1_Missense_Mutation_p.P405Q	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	405					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			large_intestine(3)|central_nervous_system(2)|lung(1)|ovary(1)	7										298				0.478417	395.279744	395.389513	133	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79286261	79286261	16184	23	C	A	A	A	273	21	TBX22	2	2
BRWD3	254065	broad.mit.edu	37	X	79936893	79936893	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79936893T>C	uc004edt.2	-	c.4601A>G	c.(4600-4602)CAT>CGT	p.H1534R	BRWD3_uc010nmi.1_Non-coding_Transcript|BRWD3_uc004edo.2_Missense_Mutation_p.H1130R|BRWD3_uc004edp.2_Missense_Mutation_p.H1363R|BRWD3_uc004edq.2_Missense_Mutation_p.H1130R|BRWD3_uc010nmj.1_Missense_Mutation_p.H1130R|BRWD3_uc004edr.2_Missense_Mutation_p.H1204R|BRWD3_uc004eds.2_Missense_Mutation_p.H1130R|BRWD3_uc004edu.2_Missense_Mutation_p.H1204R|BRWD3_uc004edv.2_Missense_Mutation_p.H1130R|BRWD3_uc004edw.2_Missense_Mutation_p.H1130R|BRWD3_uc004edx.2_Missense_Mutation_p.H1130R|BRWD3_uc004edy.2_Missense_Mutation_p.H1130R|BRWD3_uc004edz.2_Missense_Mutation_p.H1204R|BRWD3_uc004eea.2_Missense_Mutation_p.H1204R|BRWD3_uc004eeb.2_Missense_Mutation_p.H1130R	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1534										ovary(4)	4														0.375405	314.200499	318.418522	116	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79936893	79936893	1557	23	T	C	C	C	663	51	BRWD3	4	4
BRWD3	254065	broad.mit.edu	37	X	79975018	79975018	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79975018G>A	uc004edt.2	-	c.2014C>T	c.(2014-2016)CCA>TCA	p.P672S	BRWD3_uc010nmi.1_Non-coding_Transcript|BRWD3_uc004edo.2_Missense_Mutation_p.P268S|BRWD3_uc004edp.2_Missense_Mutation_p.P501S|BRWD3_uc004edq.2_Missense_Mutation_p.P268S|BRWD3_uc010nmj.1_Missense_Mutation_p.P268S|BRWD3_uc004edr.2_Missense_Mutation_p.P342S|BRWD3_uc004eds.2_Missense_Mutation_p.P268S|BRWD3_uc004edu.2_Missense_Mutation_p.P342S|BRWD3_uc004edv.2_Missense_Mutation_p.P268S|BRWD3_uc004edw.2_Missense_Mutation_p.P268S|BRWD3_uc004edx.2_Missense_Mutation_p.P268S|BRWD3_uc004edy.2_Missense_Mutation_p.P268S|BRWD3_uc004edz.2_Missense_Mutation_p.P342S|BRWD3_uc004eea.2_Missense_Mutation_p.P342S|BRWD3_uc004eeb.2_Missense_Mutation_p.P268S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	672										ovary(4)	4														0.263158	38.799722	41.691002	15	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79975018	79975018	1557	23	G	A	A	A	572	44	BRWD3	2	2
POU3F4	5456	broad.mit.edu	37	X	82764010	82764010	+	Silent	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:82764010G>T	uc004eeg.2	+	c.678G>T	c.(676-678)GTG>GTT	p.V226V		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	226	POU-specific.				regulation of transcription, DNA-dependent|sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.224299	108.887252	123.84012	48	166	KEEP	---	---	---	---	capture		Silent	SNP	82764010	82764010	12707	23	G	T	T	T	613	48	POU3F4	2	2
CYLC1	1538	broad.mit.edu	37	X	83127978	83127978	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83127978C>A	uc004eei.1	+	c.262C>A	c.(262-264)CCA>ACA	p.P88T	CYLC1_uc004eeh.1_Missense_Mutation_p.P87T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	88					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5														0.228571	36.469946	41.196703	16	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83127978	83127978	4306	23	C	A	A	A	338	26	CYLC1	2	2
TGIF2LX	90316	broad.mit.edu	37	X	89177681	89177681	+	Silent	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177681C>A	uc004efe.2	+	c.597C>A	c.(595-597)TCC>TCA	p.S199S		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	199					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.282609	33.356979	35.309266	13	33	KEEP	---	---	---	---	capture		Silent	SNP	89177681	89177681	16355	23	C	A	A	A	275	22	TGIF2LX	2	2
PABPC5	140886	broad.mit.edu	37	X	90690871	90690871	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:90690871C>A	uc004efg.2	+	c.295C>A	c.(295-297)CGC>AGC	p.R99S	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	99						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3														0.23913	55.210196	60.922751	22	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90690871	90690871	11783	23	C	A	A	A	299	23	PABPC5	1	1
PCDH11X	27328	broad.mit.edu	37	X	91090515	91090515	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91090515G>T	uc004efk.1	+	c.12G>T	c.(10-12)TTG>TTT	p.L4F	PCDH11X_uc004efl.1_Missense_Mutation_p.L4F|PCDH11X_uc004efo.1_Missense_Mutation_p.L4F|PCDH11X_uc010nmv.1_Missense_Mutation_p.L4F|PCDH11X_uc004efm.1_Missense_Mutation_p.L4F|PCDH11X_uc004efn.1_Missense_Mutation_p.L4F|PCDH11X_uc004efh.1_Missense_Mutation_p.L4F|PCDH11X_uc004efj.1_Missense_Mutation_p.L4F	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	4					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.415584	96.684634	97.164039	32	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91090515	91090515	11928	23	G	T	T	T	620	48	PCDH11X	2	2
PCDH11X	27328	broad.mit.edu	37	X	91133598	91133598	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91133598C>A	uc004efk.1	+	c.2359C>A	c.(2359-2361)CGC>AGC	p.R787S	PCDH11X_uc004efl.1_Missense_Mutation_p.R787S|PCDH11X_uc004efo.1_Missense_Mutation_p.R787S|PCDH11X_uc010nmv.1_Missense_Mutation_p.R787S|PCDH11X_uc004efm.1_Missense_Mutation_p.R787S|PCDH11X_uc004efn.1_Missense_Mutation_p.R787S|PCDH11X_uc004efh.1_Missense_Mutation_p.R787S|PCDH11X_uc004efj.1_Missense_Mutation_p.R787S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	787	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.440217	248.861137	249.431503	81	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91133598	91133598	11928	23	C	A	A	A	351	27	PCDH11X	1	1
GALNTL4	374378	broad.mit.edu	37	11	11643012	11643013	+	In_Frame_Ins	INS	-	GGG	GGG			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:11643012_11643013insGGG	uc001mjo.2	-	c.128_129insCCC	c.(127-129)GGG>GGCCCG	p.43_44insP		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	43_44	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)										0.30			7	16		---	---	---	---	capture_indel		In_Frame_Ins	INS	11643012	11643013	6487	11	-	GGG	GGG	GGG	327	26	GALNTL4	5	5
RERG	85004	broad.mit.edu	37	12	15262427	15262428	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:15262427_15262428insC	uc001rcs.2	-	c.216_217insG	c.(214-219)GGGCACfs	p.G72fs	RERG_uc001rct.2_Frame_Shift_Ins_p.G72fs|RERG_uc010shu.1_Frame_Shift_Ins_p.G53fs	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	72_73					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity				0														0.36			121	212		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	15262427	15262428	13701	12	-	C	C	C	598	46	RERG	5	5
EDNRB	1910	broad.mit.edu	37	13	78477707	78477708	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:78477707_78477708insA	uc001vkp.1	-	c.767_768insT	c.(766-768)ATGfs	p.M256fs	EDNRB_uc001vkq.1_Frame_Shift_Ins_p.M173fs|EDNRB_uc001vko.2_Frame_Shift_Ins_p.M173fs|EDNRB_uc010aez.1_Frame_Shift_Ins_p.M173fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	173	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron maturation|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)					117				0.49			37	39		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	78477707	78477708	5107	13	-	A	A	A	221	17	EDNRB	5	5
NF1	4763	broad.mit.edu	37	17	29559881	29559881	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29559881_29559881delG	uc002hgg.2	+	c.3478_3478delG	c.(3478-3480)GGTfs	p.G1160fs	NF1_uc002hgh.2_Frame_Shift_Del_p.G1160fs|NF1_uc010csn.1_Frame_Shift_Del_p.G1020fs|NF1_uc002hgi.1_Frame_Shift_Del_p.G193fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1160					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)			0.30			34	79		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	29559881	29559881	10756	17	G	-	-	-	611	47	NF1	5	5
GIPC3	126326	broad.mit.edu	37	19	3586542	3586543	+	Frame_Shift_Ins	INS	-	G	G	rs8113232	byFrequency;by1000genomes	TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3586542_3586543insG	uc002lyd.3	+	c.275_276insG	c.(274-276)CTGfs	p.L92fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	92										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)								OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	3586542	3586543	6662	19	-	G	G	G	715	55	GIPC3	5	5
TPM3	7170	broad.mit.edu	37	1	154148630	154148630	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154148630_154148630delT	uc001fec.1	-	c.338_338delA	c.(337-339)AAGfs	p.K113fs	TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Frame_Shift_Del_p.K76fs|TPM3_uc001fdz.1_Frame_Shift_Del_p.K76fs|TPM3_uc001fea.1_Frame_Shift_Del_p.K76fs|TPM3_uc001feb.1_Frame_Shift_Del_p.K76fs|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Frame_Shift_Del_p.K76fs	NM_152263	NP_689476	P06753	TPM3_HUMAN	tropomyosin 3 isoform 1	112	By similarity.				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)	33	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)									241				0.53			112	98		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	154148630	154148630	16951	1	T	-	-	-	728	56	TPM3	5	5
TAL1	6886	broad.mit.edu	37	1	47691474	47691475	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47691474_47691475insG	uc001cqx.2	-	c.86_87insC	c.(85-87)CCGfs	p.P29fs	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Frame_Shift_Ins_p.P29fs|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	29					cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity				0										17				0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	47691474	47691475	16062	1	-	G	G	G	340	27	TAL1	5	5
JAK1	3716	broad.mit.edu	37	1	65303784	65303784	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65303784_65303784delT	uc001dbu.1	-	c.2971_2971delA	c.(2971-2973)ATGfs	p.M991fs	JAK1_uc009wam.1_Frame_Shift_Del_p.M979fs|JAK1_uc009wal.1_Frame_Shift_Del_p.M168fs	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	991	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.E966_K989del(1)		haematopoietic_and_lymphoid_tissue(30)|prostate(7)|soft_tissue(6)|lung(4)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	55				BRCA - Breast invasive adenocarcinoma(111;0.0485)						1025				0.39			9	14		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	65303784	65303784	8241	1	T	-	-	-	650	50	JAK1	5	5
HOXD13	3239	broad.mit.edu	37	2	176957922	176957922	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176957922_176957922delC	uc002ukf.1	+	c.304_304delC	c.(304-306)CCCfs	p.P102fs		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	102					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|transcription regulator activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)					p.P102T(SR786-Tumor)	34				0.36			4	7		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	176957922	176957922	7614	2	C	-	-	-	390	30	HOXD13	5	5
TAGLN3	29114	broad.mit.edu	37	3	111718410	111718411	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111718410_111718411insG	uc003dym.2	+	c.141_142insG	c.(139-144)CCCGGCfs	p.P47fs	TAGLN3_uc003dyl.2_Frame_Shift_Ins_p.P47fs|TAGLN3_uc003dyn.2_Frame_Shift_Ins_p.P47fs|TAGLN3_uc003dyo.2_Frame_Shift_Ins_p.P47fs	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN	transgelin 3	47_48	CH.				central nervous system development|muscle organ development						0														0.33			14	29		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	111718410	111718411	16061	3	-	G	G	G	288	23	TAGLN3	5	5
PROK2	60675	broad.mit.edu	37	3	71830633	71830634	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:71830633_71830634insT	uc003dpa.3	-	c.206_207insA	c.(205-207)CATfs	p.H69fs	PROK2_uc003doz.3_Frame_Shift_Ins_p.H69fs	NM_001126128	NP_001119600	Q9HC23	PROK2_HUMAN	prokineticin 2 isoform a precursor	69					activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding				0		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)										0.30			10	23		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	71830633	71830634	12994	3	-	T	T	T	154	12	PROK2	5	5
RGS12	6002	broad.mit.edu	37	4	3432649	3432650	+	Frame_Shift_Ins	INS	-	CC	CC			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3432649_3432650insCC	uc003ggw.2	+	c.4081_4082insCC	c.(4081-4083)ACCfs	p.T1361fs	RGS12_uc003ggv.2_Frame_Shift_Ins_p.T1361fs|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Frame_Shift_Ins_p.T713fs|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Frame_Shift_Ins_p.T703fs|RGS12_uc010icv.2_Frame_Shift_Ins_p.T560fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1361						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	3432649	3432650	13769	4	-	CC	CC	CC	78	6	RGS12	5	5
NKRF	55922	broad.mit.edu	37	X	118724170	118724171	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118724170_118724171insA	uc004erq.2	-	c.1217_1218insT	c.(1216-1218)TTGfs	p.L406fs	NKRF_uc004err.2_Frame_Shift_Ins_p.L406fs	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	406					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding|specific transcriptional repressor activity			ovary(1)|central_nervous_system(1)	2														0.40			37	56		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	118724170	118724171	10848	23	-	A	A	A	376	29	NKRF	5	5
HTATSF1	27336	broad.mit.edu	37	X	135593890	135593890	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z015-01	TCGA-17-Z015-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135593890_135593890delG	uc004ezw.2	+	c.1986_1986delG	c.(1984-1986)AAGfs	p.K662fs	HTATSF1_uc004ezx.2_Frame_Shift_Del_p.K662fs	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	662	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding|RNA polymerase II transcription factor activity|transcription elongation regulator activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)													0.52			222	202		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	135593890	135593890	7733	23	G	-	-	-	451	35	HTATSF1	5	5
