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
SMC3	9126	broad.mit.edu	37	10	112344147	112344147	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112344147A>T	uc001kze.2	+	c.1298A>T	c.(1297-1299)CAG>CTG	p.Q433L		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	433	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)	2		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)										0.169231	22.882714	29.615551	11	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112344147	112344147	15282	10	A	T	T	T	91	7	SMC3	3	3
HSPA12A	259217	broad.mit.edu	37	10	118440738	118440738	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118440738C>T	uc001lct.2	-	c.952G>A	c.(952-954)GGT>AGT	p.G318S	HSPA12A_uc001lcu.2_Missense_Mutation_p.G235S	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	318							ATP binding			ovary(1)	1				all cancers(201;0.0158)										0.243902	25.638184	28.082857	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118440738	118440738	7703	10	C	T	T	T	299	23	HSPA12A	1	1
FAM107B	83641	broad.mit.edu	37	10	14816535	14816535	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:14816535G>A	uc001ina.1	-	c.128C>T	c.(127-129)TCC>TTC	p.S43F	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4														0.209677	30.639362	35.47664	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14816535	14816535	5587	10	G	A	A	A	533	41	FAM107B	2	2
ST8SIA6	338596	broad.mit.edu	37	10	17363108	17363108	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17363108G>T	uc001ipd.2	-	c.966C>A	c.(964-966)TCC>TCA	p.S322S	ST8SIA6_uc010qce.1_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	322	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1														0.285714	152.712454	160.792856	56	140	KEEP	---	---	---	---	capture		Silent	SNP	17363108	17363108	15754	10	G	T	T	T	600	47	ST8SIA6	2	2
MASTL	84930	broad.mit.edu	37	10	27459686	27459686	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27459686G>C	uc001itm.2	+	c.1798G>C	c.(1798-1800)GAA>CAA	p.E600Q	MASTL_uc001itl.2_Missense_Mutation_p.E600Q|MASTL_uc009xkw.1_Missense_Mutation_p.E600Q|MASTL_uc009xkx.1_Non-coding_Transcript	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	600	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|protein phosphorylation|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3										553				0.076923	0.59231	7.739154	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27459686	27459686	9712	10	G	C	C	C	585	45	MASTL	3	3
FAM13C	220965	broad.mit.edu	37	10	61022236	61022236	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61022236C>A	uc010qif.1	-	c.1260G>T	c.(1258-1260)CTG>CTT	p.L420L	FAM13C_uc001jkn.2_Silent_p.L398L|FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Silent_p.L315L|FAM13C_uc010qie.1_Silent_p.L315L|FAM13C_uc001jkp.2_Silent_p.L315L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	398										ovary(1)	1														0.097561	2.566665	9.218531	4	37	KEEP	---	---	---	---	capture		Silent	SNP	61022236	61022236	5651	10	C	A	A	A	366	29	FAM13C	2	2
ADAMTS14	140766	broad.mit.edu	37	10	72520444	72520444	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72520444G>T	uc001jrg.2	+	c.3516G>T	c.(3514-3516)GAG>GAT	p.E1172D	ADAMTS14_uc001jrh.2_Missense_Mutation_p.E1169D	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1169	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)	5														0.148148	12.66169	19.082025	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72520444	72520444	260	10	G	T	T	T	425	33	ADAMTS14	2	2
DUSP13	51207	broad.mit.edu	37	10	76861638	76861638	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:76861638T>A	uc001jwu.2	-	c.265A>T	c.(265-267)AGA>TGA	p.R89*	DUSP13_uc001jwr.2_5'Flank|DUSP13_uc001jws.2_3'UTR|DUSP13_uc001jww.2_Intron|DUSP13_uc009xrs.2_Nonsense_Mutation_p.R89*|DUSP13_uc001jwt.2_Nonsense_Mutation_p.R89*|DUSP13_uc001jwv.2_5'UTR	NM_001007273	NP_001007274	Q6B8I1	MDSP_HUMAN	testis and skeletal muscle-specific dual	Error:Variant_position_missing_in_Q6B8I1_after_alignment						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					NSCLC(174;1655 2059 12324 40663 42963)								0.116667	7.980755	16.65821	7	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76861638	76861638	4998	10	T	A	A	A	713	55	DUSP13	5	3
PDGFD	80310	broad.mit.edu	37	11	103814370	103814370	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103814370G>A	uc001phq.2	-	c.582C>T	c.(580-582)TCC>TCT	p.S194S	PDGFD_uc001php.2_Silent_p.S188S	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	194					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)										0.217391	13.662392	15.35596	5	18	KEEP	---	---	---	---	capture		Silent	SNP	103814370	103814370	12081	11	G	A	A	A	444	35	PDGFD	2	2
CLDN25	644672	broad.mit.edu	37	11	113651176	113651176	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113651176T>A	uc009yyw.1	+	c.659T>A	c.(658-660)CTC>CAC	p.L220H		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	220	Cytoplasmic (Potential).					integral to membrane|tight junction	structural molecule activity				0														0.241379	33.219256	36.759773	14	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113651176	113651176	3622	11	T	A	A	A	702	54	CLDN25	3	3
OR10G7	390265	broad.mit.edu	37	11	123909453	123909453	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123909453G>T	uc001pzq.1	-	c.256C>A	c.(256-258)CCA>ACA	p.P86T		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)										0.153191	61.453752	88.490862	36	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123909453	123909453	11308	11	G	T	T	T	559	43	OR10G7	2	2
OR8B12	219858	broad.mit.edu	37	11	124413483	124413483	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124413483C>T	uc010sam.1	-	c.68G>A	c.(67-69)CGG>CAG	p.R23Q		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		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;0.0213)										0.1	6.080217	17.261139	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124413483	124413483	11637	11	C	T	T	T	299	23	OR8B12	1	1
ARHGAP32	9743	broad.mit.edu	37	11	128842725	128842725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128842725G>A	uc009zcp.2	-	c.3634C>T	c.(3634-3636)CAG>TAG	p.Q1212*	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Nonsense_Mutation_p.Q171*|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.Q863*	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1212					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														0.327869	54.777192	56.38093	20	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128842725	128842725	893	11	G	A	A	A	585	45	ARHGAP32	5	2
KRTAP5-5	439915	broad.mit.edu	37	11	1651702	1651702	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1651702C>A	uc001lty.2	+	c.632C>A	c.(631-633)TCC>TAC	p.S211Y		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	211	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.114286	9.723445	25.13143	12	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1651702	1651702	8886	11	C	A	A	A	390	30	KRTAP5-5	2	2
KCNC1	3746	broad.mit.edu	37	11	17793327	17793327	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17793327A>T	uc009yhc.1	+	c.686A>T	c.(685-687)AAT>ATT	p.N229I	KCNC1_uc001mnk.3_Missense_Mutation_p.N229I	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	229						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0														0.101852	8.949329	26.01782	11	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17793327	17793327	8319	11	A	T	T	T	52	4	KCNC1	3	3
KCNC1	3746	broad.mit.edu	37	11	17793919	17793919	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17793919C>T	uc009yhc.1	+	c.1278C>T	c.(1276-1278)CTC>CTT	p.L426L	KCNC1_uc001mnk.3_Silent_p.L426L	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	426	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0														0.111111	4.844085	15.623461	8	64	KEEP	---	---	---	---	capture		Silent	SNP	17793919	17793919	8319	11	C	T	T	T	366	29	KCNC1	2	2
MRGPRX3	117195	broad.mit.edu	37	11	18159367	18159367	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18159367C>A	uc001mnu.2	+	c.618C>A	c.(616-618)TCC>TCA	p.S206S		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	206	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2														0.345679	77.968641	79.674934	28	53	KEEP	---	---	---	---	capture		Silent	SNP	18159367	18159367	10161	11	C	A	A	A	275	22	MRGPRX3	2	2
IGSF22	283284	broad.mit.edu	37	11	18730952	18730952	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18730952G>T	uc009yht.2	-	c.2980C>A	c.(2980-2982)CGT>AGT	p.R994S	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	893										ovary(4)|large_intestine(2)|kidney(1)	7														0.122222	15.298365	27.845853	11	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18730952	18730952	7901	11	G	T	T	T	507	39	IGSF22	1	1
LSP1	4046	broad.mit.edu	37	11	1904722	1904722	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1904722G>T	uc001luj.2	+	c.814G>T	c.(814-816)GGG>TGG	p.G272W	LSP1_uc001lui.2_Missense_Mutation_p.G144W|LSP1_uc001luk.2_Missense_Mutation_p.G82W|LSP1_uc001lul.2_Missense_Mutation_p.G82W|LSP1_uc001lum.2_Missense_Mutation_p.G82W	NM_001013255	NP_001013273	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 2	144					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)						91				0.166667	7.085223	9.614043	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1904722	1904722	9439	11	G	T	T	T	559	43	LSP1	2	2
LDLRAD3	143458	broad.mit.edu	37	11	36248861	36248861	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36248861C>A	uc001mwk.1	+	c.681C>A	c.(679-681)CAC>CAA	p.H227Q	LDLRAD3_uc010rey.1_Missense_Mutation_p.H178Q|LDLRAD3_uc010rez.1_Missense_Mutation_p.H106Q|LDLRAD3_uc010rfa.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	227	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)												0.385714	80.010056	80.810863	27	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36248861	36248861	9031	11	C	A	A	A	233	18	LDLRAD3	2	2
CHST1	8534	broad.mit.edu	37	11	45672125	45672125	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45672125G>T	uc001mys.1	-	c.349C>A	c.(349-351)CTA>ATA	p.L117I		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	117	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			pancreas(1)	1				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)										0.238095	10.663382	11.980725	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45672125	45672125	3531	11	G	T	T	T	438	34	CHST1	2	2
OR8H2	390151	broad.mit.edu	37	11	55873058	55873058	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55873058C>G	uc010riy.1	+	c.540C>G	c.(538-540)GAC>GAG	p.D180E		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.120419	38.184178	65.173504	23	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55873058	55873058	11649	11	C	G	G	G	220	17	OR8H2	3	3
OR5M9	390162	broad.mit.edu	37	11	56230020	56230020	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230020C>A	uc010rjj.1	-	c.858G>T	c.(856-858)ATG>ATT	p.M286I		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.113924	9.714577	21.330762	9	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56230020	56230020	11587	11	C	A	A	A	377	29	OR5M9	2	2
OR5M11	219487	broad.mit.edu	37	11	56310158	56310158	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310158A>T	uc010rjl.1	-	c.576T>A	c.(574-576)TAT>TAA	p.Y192*		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.098765	7.545115	20.580692	8	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56310158	56310158	11584	11	A	T	T	T	102	8	OR5M11	5	3
OR5M11	219487	broad.mit.edu	37	11	56310375	56310375	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310375T>G	uc010rjl.1	-	c.359A>C	c.(358-360)GAC>GCC	p.D120A		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.125	16.497243	27.484159	10	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56310375	56310375	11584	11	T	G	G	G	754	58	OR5M11	4	4
OR1S1	219959	broad.mit.edu	37	11	57982975	57982975	+	Silent	SNP	T	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57982975T>C	uc010rkc.1	+	c.759T>C	c.(757-759)ACT>ACC	p.T253T		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)												0.142857	12.127363	17.284085	6	36	KEEP	---	---	---	---	capture		Silent	SNP	57982975	57982975	11378	11	T	C	C	C	717	56	OR1S1	4	4
OR5A1	219982	broad.mit.edu	37	11	59211010	59211010	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59211010C>T	uc001nnx.1	+	c.369C>T	c.(367-369)TAC>TAT	p.Y123Y		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	123	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.217842	245.34235	280.698236	105	377	KEEP	---	---	---	---	capture		Silent	SNP	59211010	59211010	11549	11	C	T	T	T	246	19	OR5A1	1	1
AHNAK	79026	broad.mit.edu	37	11	62287500	62287500	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62287500C>A	uc001ntl.2	-	c.14389G>T	c.(14389-14391)GGT>TGT	p.G4797C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4797					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.234043	132.796626	148.01443	55	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62287500	62287500	417	11	C	A	A	A	312	24	AHNAK	2	2
OR2AG1	144125	broad.mit.edu	37	11	6806521	6806521	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6806521T>A	uc001mer.1	+	c.253T>A	c.(253-255)TTT>ATT	p.F85I		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.171429	35.786397	46.501201	18	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6806521	6806521	11390	11	T	A	A	A	728	56	OR2AG1	3	3
ARHGEF17	9828	broad.mit.edu	37	11	73066631	73066631	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73066631C>T	uc001otu.2	+	c.3507C>T	c.(3505-3507)CTC>CTT	p.L1169L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1169	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0														0.294118	25.735632	27.026073	10	24	KEEP	---	---	---	---	capture		Silent	SNP	73066631	73066631	914	11	C	T	T	T	366	29	ARHGEF17	2	2
PPME1	51400	broad.mit.edu	37	11	73941432	73941432	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73941432G>A	uc001ouw.2	+	c.541G>A	c.(541-543)GAT>AAT	p.D181N	PPME1_uc009yty.2_Missense_Mutation_p.D51N|PPME1_uc001oux.2_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	181					protein demethylation		protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0	Breast(11;3.29e-05)													0.279352	182.057217	192.881252	69	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73941432	73941432	12782	11	G	A	A	A	585	45	PPME1	2	2
FAT3	120114	broad.mit.edu	37	11	92086011	92086011	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92086011G>T	uc001pdj.3	+	c.733G>T	c.(733-735)GGA>TGA	p.G245*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	245	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.187755	103.503023	125.867972	46	199	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92086011	92086011	5927	11	G	T	T	T	611	47	FAT3	5	2
AMOTL1	154810	broad.mit.edu	37	11	94603922	94603922	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94603922G>C	uc001pfb.2	+	c.2833G>C	c.(2833-2835)GAG>CAG	p.E945Q	AMOTL1_uc001pfc.2_Missense_Mutation_p.E895Q	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	945						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)												0.176471	7.615393	9.291375	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94603922	94603922	586	11	G	C	C	C	481	37	AMOTL1	3	3
SRRM4	84530	broad.mit.edu	37	12	119563201	119563201	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:119563201C>A	uc001txa.1	+	c.531C>A	c.(529-531)CCC>CCA	p.P177P		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	177	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2														0.217391	24.728147	28.113223	10	36	KEEP	---	---	---	---	capture		Silent	SNP	119563201	119563201	15685	12	C	A	A	A	275	22	SRRM4	2	2
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>A	uc001rgp.1	-	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.3	23.360144	24.434292	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	A	A	A	234	18	KRAS	2	2
CACNA1C	775	broad.mit.edu	37	12	2797765	2797765	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2797765C>A	uc009zdu.1	+	c.6186C>A	c.(6184-6186)TCC>TCA	p.S2062S	CACNA1C_uc009zdv.1_Silent_p.S1976S|CACNA1C_uc001qkb.2_Silent_p.S1979S|CACNA1C_uc001qkc.2_Silent_p.S1998S|CACNA1C_uc001qke.2_Silent_p.S1968S|CACNA1C_uc001qkf.2_Silent_p.S1987S|CACNA1C_uc001qjz.2_Silent_p.S1979S|CACNA1C_uc001qkd.2_Silent_p.S1998S|CACNA1C_uc001qkg.2_Silent_p.S1985S|CACNA1C_uc009zdw.1_Silent_p.S2020S|CACNA1C_uc001qkh.2_Silent_p.S1987S|CACNA1C_uc001qkl.2_Silent_p.S2027S|CACNA1C_uc001qkn.2_Silent_p.S1979S|CACNA1C_uc001qko.2_Silent_p.S1999S|CACNA1C_uc001qkp.2_Silent_p.S1979S|CACNA1C_uc001qkr.2_Silent_p.S1996S|CACNA1C_uc001qku.2_Silent_p.S2014S|CACNA1C_uc001qkq.2_Silent_p.S2007S|CACNA1C_uc001qks.2_Silent_p.S1979S|CACNA1C_uc001qkt.2_Silent_p.S1998S|CACNA1C_uc001qki.1_Silent_p.S1786S|CACNA1C_uc001qkj.1_Silent_p.S1750S|CACNA1C_uc001qkk.1_Silent_p.S1715S|CACNA1C_uc001qkm.1_Silent_p.S1775S|CACNA1C_uc010sea.1_Silent_p.S670S|CACNA1C_uc001qky.1_Silent_p.S297S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2062	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)									0.166667	16.640613	22.330532	9	45	KEEP	---	---	---	---	capture		Silent	SNP	2797765	2797765	2656	12	C	A	A	A	262	21	CACNA1C	2	2
TMTC1	83857	broad.mit.edu	37	12	29736468	29736468	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29736468C>A	uc001rjb.2	-	c.966G>T	c.(964-966)AAG>AAT	p.K322N	TMTC1_uc001riz.2_Missense_Mutation_p.K79N|TMTC1_uc001rja.2_Missense_Mutation_p.K166N|TMTC1_uc001rjc.1_Missense_Mutation_p.K384N	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	322						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.311688	64.467752	66.901392	24	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29736468	29736468	16801	12	C	A	A	A	363	28	TMTC1	2	2
DDX11	1663	broad.mit.edu	37	12	31246188	31246188	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31246188G>T	uc001rjt.1	+	c.1299G>T	c.(1297-1299)TTG>TTT	p.L433F	DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.L433F|DDX11_uc001rjs.1_Missense_Mutation_p.L433F|DDX11_uc001rju.1_Missense_Mutation_p.L111F|DDX11_uc001rjv.1_Missense_Mutation_p.L433F|DDX11_uc001rjw.1_Missense_Mutation_p.L407F|DDX11_uc001rjx.1_Missense_Mutation_p.L111F|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	433	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)										Multiple Myeloma(12;0.14)			0.2	9.488539	11.162559	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31246188	31246188	4514	12	G	T	T	T	581	45	DDX11	2	2
DDX11	1663	broad.mit.edu	37	12	31256562	31256562	+	Silent	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31256562A>T	uc001rjt.1	+	c.2583A>T	c.(2581-2583)CCA>CCT	p.P861P	DDX11_uc001rjr.1_Missense_Mutation_p.Q863L|DDX11_uc001rjs.1_Missense_Mutation_p.Q813L|DDX11_uc001rju.1_Missense_Mutation_p.Q535L|DDX11_uc001rjv.1_Silent_p.P861P|DDX11_uc001rjw.1_Missense_Mutation_p.Q837L|DDX11_uc009zjn.1_Non-coding_Transcript|DDX11_uc009zjo.1_Silent_p.P30P	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	861					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)										Multiple Myeloma(12;0.14)			0.309524	37.560486	38.917611	13	29	KEEP	---	---	---	---	capture		Silent	SNP	31256562	31256562	4514	12	A	T	T	T	91	7	DDX11	3	3
PRMT8	56341	broad.mit.edu	37	12	3659225	3659225	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:3659225G>A	uc001qmf.2	+	c.385G>A	c.(385-387)GCT>ACT	p.A129T	PRMT8_uc009zed.2_Missense_Mutation_p.A120T|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	129					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)											0.283951	60.091295	63.486196	23	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3659225	3659225	12985	12	G	A	A	A	494	38	PRMT8	1	1
KRT83	3889	broad.mit.edu	37	12	52710329	52710329	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52710329G>T	uc001saf.2	-	c.964C>A	c.(964-966)CGC>AGC	p.R322S		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	322	Rod.|Coil 2.				epidermis development	keratin filament	structural molecule activity				0	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)								0.169231	45.49576	58.937567	22	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52710329	52710329	8812	12	G	T	T	T	507	39	KRT83	1	1
AMHR2	269	broad.mit.edu	37	12	53818674	53818674	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53818674G>T	uc001scx.1	+	c.414G>T	c.(412-414)CAG>CAT	p.Q138H	AMHR2_uc009zmy.1_Missense_Mutation_p.Q138H	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	138	Extracellular (Potential).				Mullerian duct regression|protein phosphorylation		ATP binding|hormone binding|metal ion binding			ovary(1)	1					Adenosine triphosphate(DB00171)					136				0.276316	55.044795	58.466795	21	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53818674	53818674	576	12	G	T	T	T	451	35	AMHR2	2	2
OR6C75	390323	broad.mit.edu	37	12	55759235	55759235	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55759235C>A	uc010spk.1	+	c.341C>A	c.(340-342)GCT>GAT	p.A114D		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.09375	4.90466	20.828444	9	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55759235	55759235	11609	12	C	A	A	A	364	28	OR6C75	2	2
MON2	23041	broad.mit.edu	37	12	62861048	62861048	+	Silent	SNP	T	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:62861048T>C	uc001sre.2	+	c.61T>C	c.(61-63)TTG>CTG	p.L21L	MON2_uc009zqj.2_Silent_p.L21L|MON2_uc010ssl.1_5'UTR|MON2_uc010ssm.1_Silent_p.L21L|MON2_uc010ssn.1_Silent_p.L21L|MON2_uc001srd.1_Silent_p.L21L	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	21					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)										0.164706	31.796211	40.867122	14	71	KEEP	---	---	---	---	capture		Silent	SNP	62861048	62861048	10091	12	T	C	C	C	725	56	MON2	4	4
TFDP1	7027	broad.mit.edu	37	13	114294517	114294517	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114294517G>T	uc001vtw.2	+	c.1168G>T	c.(1168-1170)GTG>TTG	p.V390L	TFDP1_uc010tkd.1_Missense_Mutation_p.V291L|TFDP1_uc010tke.1_Missense_Mutation_p.V361L|TFDP1_uc001vty.3_Missense_Mutation_p.V386L|TFDP1_uc001vtx.2_3'UTR	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	390					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)							482	TSP Lung(29;0.18)			0.114286	2.47057	7.618404	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114294517	114294517	16325	13	G	T	T	T	572	44	TFDP1	2	2
NEK5	341676	broad.mit.edu	37	13	52639627	52639627	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52639627C>A	uc001vge.2	-	c.2043G>T	c.(2041-2043)GGG>GGT	p.G681G		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	681					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity				0		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)						495				0.138462	11.039762	19.251382	9	56	KEEP	---	---	---	---	capture		Silent	SNP	52639627	52639627	10726	13	C	A	A	A	327	26	NEK5	2	2
AHNAK2	113146	broad.mit.edu	37	14	105415933	105415933	+	Missense_Mutation	SNP	G	T	T	rs79599750		TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105415933G>T	uc010axc.1	-	c.5855C>A	c.(5854-5856)CCC>CAC	p.P1952H	AHNAK2_uc001ypx.2_Missense_Mutation_p.P1852H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1952						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.263889	50.196725	53.823084	19	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105415933	105415933	418	14	G	T	T	T	559	43	AHNAK2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105416781	105416781	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105416781C>T	uc010axc.1	-	c.5007G>A	c.(5005-5007)GGG>GGA	p.G1669G	AHNAK2_uc001ypx.2_Silent_p.G1569G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1669						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.073529	-2.076901	10.639846	5	63	KEEP	---	---	---	---	capture		Silent	SNP	105416781	105416781	418	14	C	T	T	T	275	22	AHNAK2	2	2
AKAP6	9472	broad.mit.edu	37	14	33242914	33242914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:33242914C>T	uc001wrq.2	+	c.3403C>T	c.(3403-3405)CGA>TGA	p.R1135*		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1135	Spectrin 2.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		Melanoma(49;821 1200 7288 13647 42351)				483				0.095238	9.680452	37.325876	16	152	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33242914	33242914	458	14	C	T	T	T	399	31	AKAP6	5	1
FANCM	57697	broad.mit.edu	37	14	45644661	45644661	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45644661G>C	uc001wwd.3	+	c.2704G>C	c.(2704-2706)GAT>CAT	p.D902H	FANCM_uc010anf.2_Missense_Mutation_p.D876H|FANCM_uc001wwe.3_Missense_Mutation_p.D438H|FANCM_uc010ang.2_Missense_Mutation_p.D116H	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	902					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.15	18.133817	25.180936	9	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45644661	45644661	5907	14	G	C	C	C	429	33	FANCM	3	3
FANCM	57697	broad.mit.edu	37	14	45645426	45645426	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45645426G>A	uc001wwd.3	+	c.3469G>A	c.(3469-3471)GAA>AAA	p.E1157K	FANCM_uc010anf.2_Missense_Mutation_p.E1131K|FANCM_uc001wwe.3_Missense_Mutation_p.E693K|FANCM_uc010ang.2_Missense_Mutation_p.E371K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1157					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.169014	23.862772	31.221147	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45645426	45645426	5907	14	G	A	A	A	481	37	FANCM	1	1
ERO1L	30001	broad.mit.edu	37	14	53119002	53119002	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:53119002C>T	uc001wzv.2	-	c.1080G>A	c.(1078-1080)GAG>GAA	p.E360E	ERO1L_uc001wzw.2_Non-coding_Transcript|ERO1L_uc010aof.2_Non-coding_Transcript	NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	ERO1-like precursor	360					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor				0	Breast(41;0.226)													0.275862	46.074042	48.697804	16	42	KEEP	---	---	---	---	capture		Silent	SNP	53119002	53119002	5432	14	C	T	T	T	415	32	ERO1L	2	2
SLC35F4	341880	broad.mit.edu	37	14	58033208	58033208	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58033208C>T	uc001xdb.1	-	c.1309G>A	c.(1309-1311)GTT>ATT	p.V437I	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Missense_Mutation_p.V278I	NM_001080455	NP_001073924	A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	437	Helical; (Potential).				transport	integral to membrane				ovary(2)	2														0.333333	18.327276	18.839339	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58033208	58033208	15088	14	C	T	T	T	247	19	SLC35F4	1	1
SIPA1L1	26037	broad.mit.edu	37	14	72117072	72117072	+	Silent	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72117072A>T	uc001xms.2	+	c.1839A>T	c.(1837-1839)GTA>GTT	p.V613V	SIPA1L1_uc001xmt.2_Silent_p.V613V|SIPA1L1_uc001xmu.2_Silent_p.V613V|SIPA1L1_uc001xmv.2_Silent_p.V613V|SIPA1L1_uc010ttm.1_Silent_p.V88V	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	613	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.080247	3.290132	61.510665	26	298	KEEP	---	---	---	---	capture		Silent	SNP	72117072	72117072	14824	14	A	T	T	T	184	15	SIPA1L1	3	3
MAGEL2	54551	broad.mit.edu	37	15	23889629	23889629	+	Silent	SNP	A	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23889629A>G	uc001ywj.3	-	c.1452T>C	c.(1450-1452)TAT>TAC	p.Y484Y		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)										0.277778	29.237946	30.835351	10	26	KEEP	---	---	---	---	capture		Silent	SNP	23889629	23889629	9572	15	A	G	G	G	206	16	MAGEL2	4	4
GABRA5	2558	broad.mit.edu	37	15	27126012	27126012	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27126012A>T	uc001zbd.1	+	c.106A>T	c.(106-108)AGT>TGT	p.S36C	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	36	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.274194	49.048013	51.895612	17	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27126012	27126012	6415	15	A	T	T	T	91	7	GABRA5	3	3
MEIS2	4212	broad.mit.edu	37	15	37184499	37184499	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:37184499C>A	uc001zjr.2	-	c.1309G>T	c.(1309-1311)GCC>TCC	p.A437S	MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Missense_Mutation_p.A417S|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Missense_Mutation_p.A430S|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Missense_Mutation_p.A430S|MEIS2_uc001zjj.2_Missense_Mutation_p.A133S|MEIS2_uc001zjk.2_Missense_Mutation_p.A126S	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	437					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)										0.309963	227.189427	235.914141	84	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37184499	37184499	9857	15	C	A	A	A	364	28	MEIS2	2	2
PAK6	56924	broad.mit.edu	37	15	40566420	40566420	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40566420G>A	uc010bbl.2	+	c.1821G>A	c.(1819-1821)GTG>GTA	p.V607V	PAK6_uc010bbm.2_Silent_p.V607V|PAK6_uc001zky.3_Intron|PAK6_uc010bbn.2_Silent_p.V607V|PAK6_uc001zlb.2_Silent_p.V607V	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	607	Protein kinase.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|large_intestine(1)|ovary(1)	5		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)						94		OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.666667	18.952214	19.173324	6	3	KEEP	---	---	---	---	capture		Silent	SNP	40566420	40566420	11820	15	G	A	A	A	587	46	PAK6	2	2
FSD2	123722	broad.mit.edu	37	15	83440922	83440922	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83440922G>T	uc002bjd.2	-	c.1170C>A	c.(1168-1170)GTC>GTA	p.V390V	FSD2_uc010uol.1_Silent_p.V390V|FSD2_uc010uom.1_Silent_p.V390V	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	390	Fibronectin type-III 1.									central_nervous_system(1)	1														0.2	14.002994	16.934902	7	28	KEEP	---	---	---	---	capture		Silent	SNP	83440922	83440922	6322	15	G	T	T	T	522	41	FSD2	2	2
RHCG	51458	broad.mit.edu	37	15	90020313	90020313	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90020313C>A	uc002bnz.2	-	c.1237G>T	c.(1237-1239)GGG>TGG	p.G413W	RHCG_uc002bny.2_Missense_Mutation_p.G184W|RHCG_uc002boa.2_Non-coding_Transcript	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	413	Helical; (Potential).				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)													0.074074	-1.946496	8.121945	4	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90020313	90020313	13801	15	C	A	A	A	286	22	RHCG	2	2
ACSM5	54988	broad.mit.edu	37	16	20435268	20435268	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20435268C>T	uc002dhe.2	+	c.798C>T	c.(796-798)ATC>ATT	p.I266I		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	266					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2														0.13308	54.537491	88.914762	35	228	KEEP	---	---	---	---	capture		Silent	SNP	20435268	20435268	188	16	C	T	T	T	408	32	ACSM5	2	2
DNAH3	55567	broad.mit.edu	37	16	21035953	21035953	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21035953G>T	uc010vbe.1	-	c.5611C>A	c.(5611-5613)CTG>ATG	p.L1871M		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1871	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.1	5.111063	14.695332	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21035953	21035953	4786	16	G	T	T	T	451	35	DNAH3	2	2
OTOA	146183	broad.mit.edu	37	16	21771800	21771800	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21771800A>T	uc002djh.2	+	c.3359A>T	c.(3358-3360)CAG>CTG	p.Q1120L	OTOA_uc010vbj.1_Missense_Mutation_p.Q1041L|OTOA_uc002dji.2_Missense_Mutation_p.Q796L|OTOA_uc010vbk.1_Missense_Mutation_p.Q768L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	1134					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0414)										0.088235	1.897999	7.725742	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21771800	21771800	11714	16	A	T	T	T	91	7	OTOA	3	3
GSG1L	146395	broad.mit.edu	37	16	27840244	27840244	+	Silent	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27840244T>A	uc002doz.2	-	c.696A>T	c.(694-696)GCA>GCT	p.A232A	GSG1L_uc010bya.1_Silent_p.A181A|GSG1L_uc010bxz.1_Silent_p.A77A|GSG1L_uc002doy.2_Silent_p.A77A	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	232	Helical; (Potential).					integral to membrane				ovary(1)	1														0.163265	16.76962	22.047871	8	41	KEEP	---	---	---	---	capture		Silent	SNP	27840244	27840244	7101	16	T	A	A	A	704	55	GSG1L	3	3
SRRM2	23524	broad.mit.edu	37	16	2816129	2816129	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2816129G>T	uc002crk.2	+	c.5600G>T	c.(5599-5601)CGA>CTA	p.R1867L	SRRM2_uc002crj.1_Missense_Mutation_p.R1771L|SRRM2_uc002crl.1_Missense_Mutation_p.R1867L|SRRM2_uc010bsu.1_Missense_Mutation_p.R1771L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1867	Arg-rich.|Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.189474	42.205149	50.764677	18	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2816129	2816129	15683	16	G	T	T	T	481	37	SRRM2	1	1
TBC1D10B	26000	broad.mit.edu	37	16	30380611	30380611	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30380611C>A	uc002dxu.2	-	c.894G>T	c.(892-894)GGG>GGT	p.G298G		NM_015527	NP_056342	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	298						cytoplasm	Rab GTPase activator activity				0			Colorectal(24;0.193)											0.5	6.350155	6.350153	2	2	KEEP	---	---	---	---	capture		Silent	SNP	30380611	30380611	16121	16	C	A	A	A	327	26	TBC1D10B	2	2
SALL1	6299	broad.mit.edu	37	16	51171412	51171412	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51171412G>T	uc010vgs.1	-	c.3586C>A	c.(3586-3588)CGG>AGG	p.R1196R	SALL1_uc010vgr.1_Silent_p.R1099R|SALL1_uc010cbv.2_Silent_p.R48R	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1196					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)								0.285714	28.73641	30.177998	10	25	KEEP	---	---	---	---	capture		Silent	SNP	51171412	51171412	14290	16	G	T	T	T	493	38	SALL1	1	1
FTSJD1	55783	broad.mit.edu	37	16	71318329	71318329	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71318329C>A	uc010cga.2	-	c.1495G>T	c.(1495-1497)GGA>TGA	p.G499*	FTSJD1_uc002ezy.3_Nonsense_Mutation_p.G499*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.G499*	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	499						integral to membrane	methyltransferase activity|nucleic acid binding				0														0.384615	105.111193	106.170499	35	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71318329	71318329	6341	16	C	A	A	A	286	22	FTSJD1	5	2
DHX38	9785	broad.mit.edu	37	16	72137103	72137103	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72137103A>G	uc002fcb.2	+	c.1630A>G	c.(1630-1632)ATT>GTT	p.I544V	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	544	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0		Ovarian(137;0.125)				Melanoma(97;711 1442 7855 13832 28836)								0.208333	38.187563	43.857677	15	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72137103	72137103	4690	16	A	G	G	G	208	16	DHX38	4	4
MYH1	4619	broad.mit.edu	37	17	10397987	10397987	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10397987G>T	uc002gmo.2	-	c.5470C>A	c.(5470-5472)CGT>AGT	p.R1824S		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1824	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.135802	15.166994	25.579614	11	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10397987	10397987	10424	17	G	T	T	T	481	37	MYH1	1	1
MYH3	4621	broad.mit.edu	37	17	10542491	10542491	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10542491C>T	uc002gmq.1	-	c.3118G>A	c.(3118-3120)GAA>AAA	p.E1040K		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1040	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.191011	37.919498	45.86423	17	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10542491	10542491	10431	17	C	T	T	T	416	32	MYH3	2	2
DNAH9	1770	broad.mit.edu	37	17	11784564	11784564	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11784564C>A	uc002gne.2	+	c.10640C>A	c.(10639-10641)CCC>CAC	p.P3547H	DNAH9_uc010coo.2_Missense_Mutation_p.P2841H|DNAH9_uc002gnf.2_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3547	AAA 5 (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)										0.099174	9.849147	29.248658	12	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11784564	11784564	4791	17	C	A	A	A	286	22	DNAH9	2	2
MYOCD	93649	broad.mit.edu	37	17	12666882	12666882	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12666882G>A	uc002gno.2	+	c.2882G>A	c.(2881-2883)AGC>AAC	p.S961N	MYOCD_uc002gnn.2_Missense_Mutation_p.S913N|MYOCD_uc002gnq.2_Missense_Mutation_p.S637N	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	913					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.1	5.737391	18.53108	8	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12666882	12666882	10482	17	G	A	A	A	442	34	MYOCD	2	2
SLC47A1	55244	broad.mit.edu	37	17	19445804	19445804	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19445804C>A	uc002gvx.2	+	c.234C>A	c.(232-234)ATC>ATA	p.I78I	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.I78I|SLC47A1_uc010vyz.1_Silent_p.I78I|SLC47A1_uc010cqp.1_Silent_p.I78I	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	78	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)													0.25641	26.334374	28.430962	10	29	KEEP	---	---	---	---	capture		Silent	SNP	19445804	19445804	15144	17	C	A	A	A	395	31	SLC47A1	1	1
GPR179	440435	broad.mit.edu	37	17	36485475	36485475	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36485475G>A	uc002hpz.2	-	c.3977C>T	c.(3976-3978)GCC>GTC	p.A1326V		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1326	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)												0.09375	1.605909	6.909901	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36485475	36485475	6949	17	G	A	A	A	546	42	GPR179	2	2
KRT23	25984	broad.mit.edu	37	17	39081682	39081682	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39081682C>A	uc002hvm.1	-	c.1066G>T	c.(1066-1068)GTG>TTG	p.V356L	KRT23_uc010wfl.1_Missense_Mutation_p.V219L|KRT23_uc010cxf.1_Missense_Mutation_p.V143L|KRT23_uc010cxg.2_Missense_Mutation_p.V356L	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	356	Rod.|Coil 2.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)												0.255814	55.008112	59.660103	22	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39081682	39081682	8775	17	C	A	A	A	260	20	KRT23	2	2
KRTAP9-8	83901	broad.mit.edu	37	17	39394360	39394360	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39394360G>A	uc002hwh.3	+	c.57G>A	c.(55-57)TGG>TGA	p.W19*	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	19	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)											0.326829	185.555143	191.007748	67	138	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39394360	39394360	8899	17	G	A	A	A	533	41	KRTAP9-8	5	2
SCN4A	6329	broad.mit.edu	37	17	62022909	62022909	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62022909C>A	uc002jds.1	-	c.3531G>T	c.(3529-3531)ATG>ATT	p.M1177I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1177	III.|Helical; Name=S5 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.06962	-12.89945	47.548493	22	294	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62022909	62022909	14402	17	C	A	A	A	273	21	SCN4A	2	2
RNF157	114804	broad.mit.edu	37	17	74151342	74151342	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74151342C>A	uc002jqz.2	-	c.1755G>T	c.(1753-1755)CAG>CAT	p.Q585H	RNF157_uc002jra.2_Intron	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	585							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GBM(186;507 2120 27388 27773 52994)								0.108911	10.442845	25.762187	11	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74151342	74151342	13931	17	C	A	A	A	311	24	RNF157	2	2
DLGAP1	9229	broad.mit.edu	37	18	3534474	3534474	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:3534474C>A	uc002kmf.2	-	c.2197G>T	c.(2197-2199)GAT>TAT	p.D733Y	DLGAP1_uc010wyz.1_Missense_Mutation_p.D733Y|DLGAP1_uc002kme.1_Missense_Mutation_p.D431Y|DLGAP1_uc010dkn.2_Missense_Mutation_p.D441Y|DLGAP1_uc010wyw.1_Missense_Mutation_p.D439Y|DLGAP1_uc010wyx.1_Missense_Mutation_p.D455Y|DLGAP1_uc010wyy.1_Missense_Mutation_p.D417Y|DLGAP1_uc002kmg.2_Missense_Mutation_p.D431Y	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	733					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)												0.297297	29.911292	31.270264	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3534474	3534474	4739	18	C	A	A	A	403	31	DLGAP1	1	1
RTTN	25914	broad.mit.edu	37	18	67809534	67809534	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67809534C>A	uc002lkp.2	-	c.2571G>T	c.(2569-2571)GTG>GTT	p.V857V	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	857							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.155844	20.646323	29.358756	12	65	KEEP	---	---	---	---	capture		Silent	SNP	67809534	67809534	14217	18	C	A	A	A	366	29	RTTN	2	2
LAMA1	284217	broad.mit.edu	37	18	6950810	6950810	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:6950810C>G	uc002knm.2	-	c.8368G>C	c.(8368-8370)GCA>CCA	p.A2790P	LAMA1_uc002knk.2_Missense_Mutation_p.A120P|LAMA1_uc002knl.2_Missense_Mutation_p.A243P|LAMA1_uc010wzj.1_Missense_Mutation_p.A2266P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2790	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.236364	38.546616	42.040864	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6950810	6950810	8928	18	C	G	G	G	325	25	LAMA1	3	3
COL5A3	50509	broad.mit.edu	37	19	10077014	10077014	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10077014G>A	uc002mmq.1	-	c.4758C>T	c.(4756-4758)CTC>CTT	p.L1586L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1586	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.222222	8.489007	9.768282	4	14	KEEP	---	---	---	---	capture		Silent	SNP	10077014	10077014	3836	19	G	A	A	A	418	33	COL5A3	2	2
AP1M2	10053	broad.mit.edu	37	19	10692546	10692546	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10692546G>A	uc002mpd.2	-	c.276C>T	c.(274-276)TGC>TGT	p.C92C	AP1M2_uc002mpc.2_Silent_p.C92C	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	92					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)											0.157895	5.32793	7.436154	3	16	KEEP	---	---	---	---	capture		Silent	SNP	10692546	10692546	745	19	G	A	A	A	490	38	AP1M2	1	1
GCDH	2639	broad.mit.edu	37	19	13002761	13002761	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13002761C>T	uc002mvq.2	+	c.244C>T	c.(244-246)CGC>TGC	p.R82C	GCDH_uc010xms.1_Missense_Mutation_p.R70C|GCDH_uc002mvp.2_Missense_Mutation_p.R82C|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Silent_p.L19L	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	82					lysine catabolic process|oxidation-reduction process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						GBM(123;875 1636 7726 16444 26754)								0.145455	13.587676	20.217318	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13002761	13002761	6553	19	C	T	T	T	403	31	GCDH	1	1
OR10H1	26539	broad.mit.edu	37	19	15918412	15918412	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15918412C>A	uc002nbq.2	-	c.436G>T	c.(436-438)GGC>TGC	p.G146C		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.3	53.587045	56.066735	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15918412	15918412	11311	19	C	A	A	A	286	22	OR10H1	2	2
USHBP1	83878	broad.mit.edu	37	19	17370486	17370486	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17370486G>T	uc002nfs.1	-	c.824C>A	c.(823-825)ACC>AAC	p.T275N	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.T211N|USHBP1_uc010eam.1_Missense_Mutation_p.T203N	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	275							PDZ domain binding			ovary(1)	1														0.265487	82.201154	87.815426	30	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17370486	17370486	17599	19	G	T	T	T	572	44	USHBP1	2	2
TSHZ3	57616	broad.mit.edu	37	19	31768401	31768401	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768401C>T	uc002nsy.3	-	c.2298G>A	c.(2296-2298)CCG>CCA	p.P766P		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	766					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)													0.486111	97.854373	97.864413	35	37	KEEP	---	---	---	---	capture		Silent	SNP	31768401	31768401	17176	19	C	T	T	T	340	27	TSHZ3	1	1
TSHZ3	57616	broad.mit.edu	37	19	31769734	31769734	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769734T>C	uc002nsy.3	-	c.965A>G	c.(964-966)AAG>AGG	p.K322R		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	322					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)													0.111801	26.030553	50.00275	18	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31769734	31769734	17176	19	T	C	C	C	728	56	TSHZ3	4	4
ZNF569	148266	broad.mit.edu	37	19	37905272	37905272	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37905272C>G	uc002ogj.2	-	c.360G>C	c.(358-360)TTG>TTC	p.L120F	ZNF569_uc002ogh.2_5'UTR|ZNF569_uc002ogi.2_Missense_Mutation_p.L96F	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.09375	5.098594	15.717349	6	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37905272	37905272	18595	19	C	G	G	G	376	29	ZNF569	3	3
RYR1	6261	broad.mit.edu	37	19	38976703	38976703	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38976703C>T	uc002oit.2	+	c.5408C>T	c.(5407-5409)CCG>CTG	p.P1803L	RYR1_uc002oiu.2_Missense_Mutation_p.P1803L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1803	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.39726	91.7669	92.438728	29	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38976703	38976703	14248	19	C	T	T	T	299	23	RYR1	1	1
CD177	57126	broad.mit.edu	37	19	43858045	43858045	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43858045T>A	uc002owi.2	+	c.93T>A	c.(91-93)CAT>CAA	p.H31Q	CD177_uc010eis.2_Non-coding_Transcript|CD177_uc002owj.2_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	31					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane					0		Prostate(69;0.00682)												0.252525	66.229008	71.734207	25	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43858045	43858045	3098	19	T	A	A	A	660	51	CD177	3	3
ZNF180	7733	broad.mit.edu	37	19	44981416	44981416	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44981416G>T	uc002ozf.3	-	c.1282C>A	c.(1282-1284)CAA>AAA	p.Q428K	ZNF180_uc002ozh.3_Missense_Mutation_p.Q85K|ZNF180_uc002ozi.3_Missense_Mutation_p.Q401K|ZNF180_uc002ozg.3_Missense_Mutation_p.Q427K|ZNF180_uc010ejm.2_Missense_Mutation_p.Q403K	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	428	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				Esophageal Squamous(180;1353 2003 32862 46574 49854)								0.277372	98.886128	104.999688	38	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44981416	44981416	18339	19	G	T	T	T	585	45	ZNF180	2	2
PLIN4	729359	broad.mit.edu	37	19	4512253	4512253	+	Silent	SNP	C	A	A	rs113773915	by1000genomes	TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4512253C>A	uc002mar.1	-	c.1677G>T	c.(1675-1677)ACG>ACT	p.T559T	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	559	27 X 33 AA approximate tandem repeat.|15.					lipid particle|plasma membrane					0														0.292308	55.603677	58.111562	19	46	KEEP	---	---	---	---	capture		Silent	SNP	4512253	4512253	12518	19	C	A	A	A	288	23	PLIN4	1	1
ACER1	125981	broad.mit.edu	37	19	6307196	6307196	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6307196C>T	uc002mel.2	-	c.594G>A	c.(592-594)CAG>CAA	p.Q198Q		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	198	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0														0.283582	51.394964	54.214296	19	48	KEEP	---	---	---	---	capture		Silent	SNP	6307196	6307196	139	19	C	T	T	T	415	32	ACER1	2	2
FBN3	84467	broad.mit.edu	37	19	8137954	8137954	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8137954C>A	uc002mjf.2	-	c.7930G>T	c.(7930-7932)GGG>TGG	p.G2644W	FBN3_uc002mje.2_Missense_Mutation_p.G440W	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2644	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.364865	81.107815	82.295328	27	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8137954	8137954	5940	19	C	A	A	A	273	21	FBN3	2	2
MUC16	94025	broad.mit.edu	37	19	9010703	9010703	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9010703G>T	uc002mkp.2	-	c.38958C>A	c.(38956-38958)ACC>ACA	p.T12986T	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12988	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.262069	100.281046	107.709751	38	107	KEEP	---	---	---	---	capture		Silent	SNP	9010703	9010703	10367	19	G	T	T	T	444	35	MUC16	2	2
ZNF317	57693	broad.mit.edu	37	19	9271573	9271573	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9271573G>A	uc002mku.2	+	c.1252G>A	c.(1252-1254)GTG>ATG	p.V418M	ZNF317_uc002mkv.2_Missense_Mutation_p.V277M|ZNF317_uc002mkw.2_Missense_Mutation_p.V386M|ZNF317_uc002mkx.2_Missense_Mutation_p.V333M|ZNF317_uc002mky.2_Missense_Mutation_p.V301M	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	418	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.085106	1.84495	18.241808	8	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9271573	9271573	18427	19	G	A	A	A	520	40	ZNF317	1	1
CCDC76	54482	broad.mit.edu	37	1	100609673	100609673	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100609673G>A	uc001dsv.2	+	c.791G>A	c.(790-792)GGA>GAA	p.G264E	CCDC76_uc010ouf.1_Non-coding_Transcript|CCDC76_uc009wea.2_Missense_Mutation_p.G264E	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	264					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)										0.133333	12.957652	20.786938	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100609673	100609673	2973	1	G	A	A	A	533	41	CCDC76	2	2
COL11A1	1301	broad.mit.edu	37	1	103400031	103400031	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103400031C>A	uc001dum.2	-	c.3610G>T	c.(3610-3612)GGA>TGA	p.G1204*	COL11A1_uc001duk.2_Nonsense_Mutation_p.G388*|COL11A1_uc001dul.2_Nonsense_Mutation_p.G1192*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G1153*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G1076*	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1192	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)										0.2	29.639162	35.079289	13	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103400031	103400031	3805	1	C	A	A	A	273	21	COL11A1	5	2
PTCHD2	57540	broad.mit.edu	37	1	11574470	11574470	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11574470G>T	uc001ash.3	+	c.1340G>T	c.(1339-1341)GGG>GTG	p.G447V	PTCHD2_uc001asi.1_Missense_Mutation_p.G447V	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	447	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)										0.169492	19.415196	25.514315	10	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11574470	11574470	13187	1	G	T	T	T	559	43	PTCHD2	2	2
IGSF3	3321	broad.mit.edu	37	1	117208912	117208912	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117208912C>A	uc001egq.1	-	c.37G>T	c.(37-39)GTG>TTG	p.V13L	IGSF3_uc001egr.1_Missense_Mutation_p.V13L	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	13						integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)										0.16	7.682857	10.435949	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117208912	117208912	7902	1	C	A	A	A	221	17	IGSF3	2	2
TARS2	80222	broad.mit.edu	37	1	150471495	150471495	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150471495G>T	uc001euq.2	+	c.1524G>T	c.(1522-1524)TGG>TGT	p.W508C	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.2_Missense_Mutation_p.W426C|TARS2_uc009wlt.2_Missense_Mutation_p.W134C|TARS2_uc009wls.2_Missense_Mutation_p.W378C	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	508					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)									0.112583	20.074186	42.443193	17	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150471495	150471495	16082	1	G	T	T	T	559	43	TARS2	2	2
TDRKH	11022	broad.mit.edu	37	1	151747949	151747949	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151747949C>A	uc009wnb.1	-	c.1353G>T	c.(1351-1353)CTG>CTT	p.L451L	TDRKH_uc001eyy.2_Silent_p.L227L|TDRKH_uc001ezb.3_Silent_p.L447L|TDRKH_uc001ezc.3_Silent_p.L406L|TDRKH_uc001eza.3_Silent_p.L451L|TDRKH_uc001ezd.3_Silent_p.L451L|TDRKH_uc010pdn.1_Silent_p.L227L	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing isoform a	451							RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.101852	8.73942	25.817288	11	97	KEEP	---	---	---	---	capture		Silent	SNP	151747949	151747949	16264	1	C	A	A	A	262	21	TDRKH	2	2
LCE3E	353145	broad.mit.edu	37	1	152538444	152538444	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152538444C>A	uc001faa.2	-	c.241G>T	c.(241-243)GGC>TGC	p.G81C		NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	81					keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)										0.212598	49.043234	58.759036	27	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152538444	152538444	8996	1	C	A	A	A	286	22	LCE3E	2	2
LCE1E	353135	broad.mit.edu	37	1	152759864	152759864	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152759864C>T	uc001fan.2	+	c.89C>T	c.(88-90)CCT>CTT	p.P30L		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	30	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.077586	1.083595	22.253706	9	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152759864	152759864	8986	1	C	T	T	T	312	24	LCE1E	2	2
ARHGEF2	9181	broad.mit.edu	37	1	155935421	155935421	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155935421C>A	uc001fmu.2	-	c.605_splice	c.e9+1	p.G202_splice	ARHGEF2_uc001fmr.2_Splice_Site_SNP_p.G130_splice|ARHGEF2_uc001fms.2_Splice_Site_SNP_p.G157_splice|ARHGEF2_uc001fmt.2_Splice_Site_SNP_p.G157_splice|ARHGEF2_uc010pgt.1_Splice_Site_SNP_p.G130_splice|ARHGEF2_uc010pgu.1_Splice_Site_SNP_p.G202_splice	NM_004723	NP_004714			Rho/Rac guanine nucleotide exchange factor 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					Melanoma(178;35 2768 6610 28839)								0.0625	-5.669373	10.274684	5	75	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	155935421	155935421	917	1	C	A	A	A	234	18	ARHGEF2	5	2
IQGAP3	128239	broad.mit.edu	37	1	156496383	156496383	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156496383C>A	uc001fpf.2	-	c.4791G>T	c.(4789-4791)CTG>CTT	p.L1597L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1597					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)	5	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.068493	-2.986475	11.072667	5	68	KEEP	---	---	---	---	capture		Silent	SNP	156496383	156496383	8119	1	C	A	A	A	314	25	IQGAP3	2	2
CACNA1E	777	broad.mit.edu	37	1	181701996	181701996	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181701996G>C	uc001gow.2	+	c.2774G>C	c.(2773-2775)CGC>CCC	p.R925P	CACNA1E_uc009wxs.2_Missense_Mutation_p.R813P|CACNA1E_uc001gox.1_Missense_Mutation_p.R151P|CACNA1E_uc009wxt.2_Missense_Mutation_p.R151P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	925	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.076389	2.190205	28.582992	11	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181701996	181701996	2658	1	G	C	C	C	494	38	CACNA1E	3	3
CACNA1E	777	broad.mit.edu	37	1	181752856	181752856	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181752856G>T	uc001gow.2	+	c.5406G>T	c.(5404-5406)ACG>ACT	p.T1802T	CACNA1E_uc009wxs.2_Silent_p.T1690T|CACNA1E_uc009wxt.2_Silent_p.T1028T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1802	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.134831	20.449328	31.944565	12	77	KEEP	---	---	---	---	capture		Silent	SNP	181752856	181752856	2658	1	G	T	T	T	496	39	CACNA1E	1	1
HMCN1	83872	broad.mit.edu	37	1	186141192	186141192	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186141192C>G	uc001grq.1	+	c.15743C>G	c.(15742-15744)ACC>AGC	p.T5248S	HMCN1_uc001grs.1_Missense_Mutation_p.T817S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5248	EGF-like 4; calcium-binding (Potential).				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.107914	18.818788	40.010104	15	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186141192	186141192	7511	1	C	G	G	G	234	18	HMCN1	3	3
FAM5C	339479	broad.mit.edu	37	1	190067901	190067901	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067901G>T	uc001gse.1	-	c.1548C>A	c.(1546-1548)AGC>AGA	p.S516R	FAM5C_uc010pot.1_Missense_Mutation_p.S414R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	516						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.198529	61.145586	72.651261	27	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190067901	190067901	5817	1	G	T	T	T	594	46	FAM5C	2	2
ALDH4A1	8659	broad.mit.edu	37	1	19201071	19201071	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19201071C>T	uc001bbb.2	-	c.1465G>A	c.(1465-1467)GTC>ATC	p.V489I	ALDH4A1_uc010ocu.1_Missense_Mutation_p.V429I|ALDH4A1_uc001bbc.2_Missense_Mutation_p.V489I	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	489					oxidation-reduction process|proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)									0.170455	31.475702	40.510382	15	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19201071	19201071	504	1	C	T	T	T	247	19	ALDH4A1	1	1
CFH	3075	broad.mit.edu	37	1	196646637	196646637	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196646637G>A	uc001gtj.3	+	c.459G>A	c.(457-459)GAG>GAA	p.E153E	CFH_uc001gti.3_Silent_p.E153E|CFH_uc009wyw.2_Silent_p.E153E|CFH_uc009wyx.2_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	153	Sushi 3.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.078261	1.980847	22.887971	9	106	KEEP	---	---	---	---	capture		Silent	SNP	196646637	196646637	3416	1	G	A	A	A	425	33	CFH	2	2
CFH	3075	broad.mit.edu	37	1	196694367	196694367	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196694367G>C	uc001gtj.3	+	c.1813G>C	c.(1813-1815)GGA>CGA	p.G605R		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	605	Sushi 10.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.128713	19.600191	33.167372	13	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196694367	196694367	3416	1	G	C	C	C	611	47	CFH	3	3
PIK3C2B	5287	broad.mit.edu	37	1	204426904	204426904	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204426904G>A	uc001haw.2	-	c.1665C>T	c.(1663-1665)CTC>CTT	p.L555L	PIK3C2B_uc010pqv.1_Silent_p.L555L|PIK3C2B_uc001hax.1_Silent_p.L555L|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	555					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|central_nervous_system(1)	3	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)							466				0.171429	10.927705	14.5007	6	29	KEEP	---	---	---	---	capture		Silent	SNP	204426904	204426904	12334	1	G	A	A	A	574	45	PIK3C2B	2	2
DYRK3	8444	broad.mit.edu	37	1	206821481	206821481	+	Missense_Mutation	SNP	G	A	A	rs17851298		TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206821481G>A	uc001hej.2	+	c.938G>A	c.(937-939)CGC>CAC	p.R313H	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.R293H	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	313	Protein kinase.			R -> H (in Ref. 9; AAH15501).	erythrocyte differentiation|protein phosphorylation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(1)|central_nervous_system(1)	2	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			Melanoma(164;427 2622 26826 51707)				219				0.042945	-23.407376	13.110971	7	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206821481	206821481	5043	1	G	A	A	A	494	38	DYRK3	1	1
ECE1	1889	broad.mit.edu	37	1	21546569	21546569	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21546569G>T	uc001bek.2	-	c.2192C>A	c.(2191-2193)CCC>CAC	p.P731H	ECE1_uc001bem.2_Missense_Mutation_p.P715H|ECE1_uc001bej.2_Missense_Mutation_p.P719H|ECE1_uc001bei.2_Missense_Mutation_p.P728H|ECE1_uc010odl.1_Missense_Mutation_p.P699H	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	731	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|peptide hormone binding|protein homodimerization activity			ovary(2)	2		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)										0.2	21.178257	24.923412	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21546569	21546569	5076	1	G	T	T	T	559	43	ECE1	2	2
RAB3GAP2	25782	broad.mit.edu	37	1	220368420	220368420	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220368420C>A	uc010puk.1	-	c.1130G>T	c.(1129-1131)AGA>ATA	p.R377I	RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Intron	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	377					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)										0.196429	103.365617	122.603633	44	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220368420	220368420	13395	1	C	A	A	A	312	24	RAB3GAP2	2	2
MARK1	4139	broad.mit.edu	37	1	220804410	220804410	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220804410C>T	uc009xdw.2	+	c.943C>T	c.(943-945)CAT>TAT	p.H315Y	MARK1_uc001hmn.3_Missense_Mutation_p.H315Y|MARK1_uc010pun.1_Missense_Mutation_p.H315Y|MARK1_uc001hmm.3_Missense_Mutation_p.H293Y	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	315					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				0.125	4.521216	10.085599	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220804410	220804410	9695	1	C	T	T	T	377	29	MARK1	2	2
MTR	4548	broad.mit.edu	37	1	237057839	237057839	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237057839G>A	uc001hyi.3	+	c.3387G>A	c.(3385-3387)CTG>CTA	p.L1129L	MTR_uc010pxw.1_Silent_p.L722L|MTR_uc010pxx.1_Silent_p.L1078L|MTR_uc010pxy.1_Silent_p.L983L	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1129	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)									0.322034	58.667885	60.295006	19	40	KEEP	---	---	---	---	capture		Silent	SNP	237057839	237057839	10351	1	G	A	A	A	600	47	MTR	2	2
RYR2	6262	broad.mit.edu	37	1	237948033	237948033	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237948033G>T	uc001hyl.1	+	c.13021G>T	c.(13021-13023)GAG>TAG	p.E4341*	RYR2_uc010pya.1_Nonsense_Mutation_p.E756*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4341					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.09589	7.531776	31.455248	14	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	237948033	237948033	14249	1	G	T	T	T	585	45	RYR2	5	2
NLRP3	114548	broad.mit.edu	37	1	247592923	247592923	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247592923G>T	uc001icr.2	+	c.2193G>T	c.(2191-2193)CGG>CGT	p.R731R	NLRP3_uc001ics.2_Silent_p.R731R|NLRP3_uc001icu.2_Silent_p.R731R|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.R729R	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	731					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.111765	20.70955	46.02144	19	151	KEEP	---	---	---	---	capture		Silent	SNP	247592923	247592923	10881	1	G	T	T	T	548	43	NLRP3	2	2
C1orf150	148823	broad.mit.edu	37	1	247737489	247737489	+	Silent	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247737489C>G	uc001idf.2	+	c.213C>G	c.(211-213)GTC>GTG	p.V71V	C1orf150_uc009xgw.2_Non-coding_Transcript|C1orf150_uc001ida.3_Non-coding_Transcript|C1orf150_uc001idb.3_Non-coding_Transcript|C1orf150_uc009xgx.2_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	71											0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.075472	2.166047	31.553577	12	147	KEEP	---	---	---	---	capture		Silent	SNP	247737489	247737489	2071	1	C	G	G	G	366	29	C1orf150	3	3
OR14A16	284532	broad.mit.edu	37	1	247978921	247978921	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247978921C>T	uc001idm.1	-	c.111G>A	c.(109-111)CTG>CTA	p.L37L		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Ovarian(112;180 1586 15073 21914 33526)								0.205128	35.754242	42.046913	16	62	KEEP	---	---	---	---	capture		Silent	SNP	247978921	247978921	11351	1	C	T	T	T	366	29	OR14A16	2	2
OR2T12	127064	broad.mit.edu	37	1	248458257	248458257	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248458257G>T	uc010pzj.1	-	c.624C>A	c.(622-624)CCC>CCA	p.P208P		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)											0.236364	32.445067	35.941069	13	42	KEEP	---	---	---	---	capture		Silent	SNP	248458257	248458257	11425	1	G	T	T	T	444	35	OR2T12	2	2
OR2T27	403239	broad.mit.edu	37	1	248814011	248814011	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248814011T>A	uc010pzo.1	-	c.175A>T	c.(175-177)ATG>TTG	p.M59L		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	59	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.070175	-1.043681	9.820707	4	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248814011	248814011	11427	1	T	A	A	A	663	51	OR2T27	3	3
GMEB1	10691	broad.mit.edu	37	1	29030714	29030714	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29030714G>C	uc001bra.2	+	c.771G>C	c.(769-771)TTG>TTC	p.L257F	GMEB1_uc001bqz.2_Missense_Mutation_p.L247F|GMEB1_uc001brb.2_Missense_Mutation_p.L247F	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)										0.092593	5.331139	14.351656	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29030714	29030714	6756	1	G	C	C	C	581	45	GMEB1	3	3
KIAA0754	643314	broad.mit.edu	37	1	39878284	39878284	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39878284A>G	uc009vvt.1	+	c.2347A>G	c.(2347-2349)ACA>GCA	p.T783A	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	647											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.192308	64.203155	75.693127	25	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39878284	39878284	8499	1	A	G	G	G	182	14	KIAA0754	4	4
C1orf168	199920	broad.mit.edu	37	1	57209895	57209895	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57209895G>T	uc001cym.3	-	c.1432C>A	c.(1432-1434)CTA>ATA	p.L478I	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.2_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	478										ovary(2)	2														0.183962	85.494978	105.364658	39	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57209895	57209895	2079	1	G	T	T	T	451	35	C1orf168	2	2
BPIL3	128859	broad.mit.edu	37	20	31624305	31624305	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31624305C>G	uc010zuc.1	+	c.632C>G	c.(631-633)CCA>CGA	p.P211R	BPIL3_uc010zud.1_Missense_Mutation_p.P150R	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	211						extracellular region	lipid binding			ovary(1)|pancreas(1)	2														0.134715	28.821515	53.807405	26	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31624305	31624305	1521	20	C	G	G	G	273	21	BPIL3	3	3
CEP250	11190	broad.mit.edu	37	20	34061814	34061814	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34061814C>G	uc002xcm.2	+	c.1508C>G	c.(1507-1509)GCC>GGC	p.A503G	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	503	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)											0.166667	5.001953	6.92084	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34061814	34061814	3385	20	C	G	G	G	338	26	CEP250	3	3
KIAA1755	85449	broad.mit.edu	37	20	36870091	36870091	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36870091C>A	uc002xhy.1	-	c.442G>T	c.(442-444)GAA>TAA	p.E148*	KIAA1755_uc002xhz.1_Nonsense_Mutation_p.E148*	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	148										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.243523	104.008718	115.607149	47	146	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36870091	36870091	8568	20	C	A	A	A	416	32	KIAA1755	5	2
MMP9	4318	broad.mit.edu	37	20	44641100	44641101	+	Missense_Mutation	DNP	CG	TT	TT			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44641100_44641101CG>TT	uc002xqz.2	+	c.1209_1210CG>TT	c.(1207-1212)TTCGGC>TTTTGC	p.G404C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	404					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)					462				0.295082	48.628246	50.918817	18	43	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	44641100	44641101	10060	20	CG	TT	TT	TT	402	31	MMP9	1	1
C20orf85	128602	broad.mit.edu	37	20	56735866	56735866	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56735866G>T	uc002xyv.2	+	c.402G>T	c.(400-402)CAG>CAT	p.Q134H		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	134										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)											0.147059	9.552392	13.620783	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56735866	56735866	2200	20	G	T	T	T	451	35	C20orf85	2	2
PLCB1	23236	broad.mit.edu	37	20	8721041	8721041	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8721041C>A	uc002wnb.2	+	c.2359C>A	c.(2359-2361)CCT>ACT	p.P787T	PLCB1_uc010zrb.1_Missense_Mutation_p.P686T|PLCB1_uc002wna.2_Missense_Mutation_p.P787T|PLCB1_uc002wnc.1_Missense_Mutation_p.P686T|PLCB1_uc002wnd.1_Missense_Mutation_p.P364T	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	787					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														0.083333	0.275884	8.733645	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8721041	8721041	12453	20	C	A	A	A	338	26	PLCB1	2	2
TPTE	7179	broad.mit.edu	37	21	10934115	10934115	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10934115T>A	uc002yip.1	-	c.862A>T	c.(862-864)AGA>TGA	p.R288*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R270*|TPTE_uc002yir.1_Nonsense_Mutation_p.R250*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R150*	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	288	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.083333	0.923959	17.86415	8	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10934115	10934115	16974	21	T	A	A	A	726	56	TPTE	5	3
ADAMTS5	11096	broad.mit.edu	37	21	28302381	28302381	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28302381C>A	uc002ymg.2	-	c.2050_splice	c.e7-1	p.V684_splice		NM_007038	NP_008969			ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.255319	90.427789	98.08914	36	105	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	28302381	28302381	270	21	C	A	A	A	312	24	ADAMTS5	5	2
KRTAP26-1	388818	broad.mit.edu	37	21	31691909	31691909	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31691909A>T	uc002ynw.2	-	c.445T>A	c.(445-447)TTG>ATG	p.L149M		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	149						intermediate filament				ovary(1)	1														0.182927	130.401229	161.361008	60	268	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31691909	31691909	8865	21	A	T	T	T	37	3	KRTAP26-1	3	3
ITSN1	6453	broad.mit.edu	37	21	35107376	35107376	+	Silent	SNP	A	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:35107376A>C	uc002yta.1	+	c.213A>C	c.(211-213)GGA>GGC	p.G71G	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Non-coding_Transcript|ITSN1_uc002ysz.2_Silent_p.G71G|ITSN1_uc010gmg.2_Silent_p.G71G|ITSN1_uc010gmh.2_Non-coding_Transcript|ITSN1_uc002ysw.2_Silent_p.G71G|ITSN1_uc010gmi.2_Silent_p.G71G|ITSN1_uc010gmj.2_Intron|ITSN1_uc002ysy.2_Silent_p.G71G|ITSN1_uc002ysx.2_Silent_p.G71G|ITSN1_uc002ytb.1_Silent_p.G71G|ITSN1_uc002ytc.1_Silent_p.G71G|ITSN1_uc002ytd.2_Non-coding_Transcript|ITSN1_uc010gmk.2_Silent_p.G71G|ITSN1_uc010gml.2_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.G71G|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.2_Silent_p.G5G	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	71	EH 1.|1 (Potential).|EF-hand 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)	3														0.2	39.283959	45.559757	15	60	KEEP	---	---	---	---	capture		Silent	SNP	35107376	35107376	8230	21	A	C	C	C	106	9	ITSN1	4	4
KRTAP10-6	386674	broad.mit.edu	37	21	46011398	46011398	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46011398C>A	uc002zfm.2	-	c.968G>T	c.(967-969)TGT>TTT	p.C323F	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	keratin associated protein 10-6	323	29 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.127551	33.538655	60.051698	25	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46011398	46011398	8828	21	C	A	A	A	221	17	KRTAP10-6	2	2
RTDR1	27156	broad.mit.edu	37	22	23401824	23401824	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:23401824G>T	uc002zwt.2	-	c.863C>A	c.(862-864)GCG>GAG	p.A288E		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	288							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)										0.153846	21.557112	30.487981	12	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23401824	23401824	14199	22	G	T	T	T	494	38	RTDR1	1	1
CRYBB1	1414	broad.mit.edu	37	22	27003934	27003934	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:27003934C>T	uc003acy.1	-	c.351G>A	c.(349-351)GAG>GAA	p.E117E		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	117	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			ovary(1)	1														0.093333	3.264856	15.741969	7	68	KEEP	---	---	---	---	capture		Silent	SNP	27003934	27003934	4049	22	C	T	T	T	415	32	CRYBB1	2	2
GPR148	344561	broad.mit.edu	37	2	131487730	131487730	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131487730C>A	uc002trv.1	+	c.1006C>A	c.(1006-1008)CCA>ACA	p.P336T		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	336	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Colorectal(110;0.1)													0.166667	8.954678	12.116696	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131487730	131487730	6928	2	C	A	A	A	286	22	GPR148	2	2
LCT	3938	broad.mit.edu	37	2	136561508	136561508	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136561508G>T	uc002tuu.1	-	c.4655C>A	c.(4654-4656)GCA>GAA	p.A1552E		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1552	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.212121	16.60556	19.134494	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136561508	136561508	9017	2	G	T	T	T	598	46	LCT	2	2
LRP1B	53353	broad.mit.edu	37	2	141707834	141707834	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141707834C>A	uc002tvj.1	-	c.3106G>T	c.(3106-3108)GAT>TAT	p.D1036Y	LRP1B_uc010fnl.1_Missense_Mutation_p.D218Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1036	Extracellular (Potential).|LDL-receptor class A 7.				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)			0.070175	-2.848932	8.023854	4	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141707834	141707834	9328	2	C	A	A	A	377	29	LRP1B	2	2
LYPD6B	130576	broad.mit.edu	37	2	150071214	150071214	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:150071214C>T	uc002twv.1	+	c.614C>T	c.(613-615)CCA>CTA	p.P205L	LYPD6B_uc002tww.1_Missense_Mutation_p.P167L|LYPD6B_uc002twx.1_Missense_Mutation_p.P167L	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	181						anchored to membrane|plasma membrane					0														0.165289	82.138489	107.873179	40	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150071214	150071214	9492	2	C	T	T	T	273	21	LYPD6B	2	2
STK39	27347	broad.mit.edu	37	2	168931721	168931721	+	Silent	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168931721T>A	uc002uea.2	-	c.1110A>T	c.(1108-1110)TCA>TCT	p.S370S		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	370					protein phosphorylation|response to stress	cytoplasm|nucleus	ATP binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2										264				0.193182	77.949464	93.413374	34	142	KEEP	---	---	---	---	capture		Silent	SNP	168931721	168931721	15825	2	T	A	A	A	808	63	STK39	3	3
HOXD10	3236	broad.mit.edu	37	2	176982041	176982041	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176982041C>A	uc002ukj.2	+	c.480C>A	c.(478-480)ACC>ACA	p.T160T		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	160						nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)						294				0.141414	23.888703	36.164849	14	85	KEEP	---	---	---	---	capture		Silent	SNP	176982041	176982041	7611	2	C	A	A	A	288	23	HOXD10	1	1
TTN	7273	broad.mit.edu	37	2	179424246	179424246	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179424246G>T	uc010zfg.1	-	c.78909C>A	c.(78907-78909)AAC>AAA	p.N26303K	TTN_uc010zfh.1_Missense_Mutation_p.N19998K|TTN_uc010zfi.1_Missense_Mutation_p.N19931K|TTN_uc010zfj.1_Missense_Mutation_p.N19806K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3084										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)						p.N26303N(HCT116-Tumor)	8722				0.201031	97.928937	114.036002	39	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179424246	179424246	17290	2	G	T	T	T	516	40	TTN	1	1
TTN	7273	broad.mit.edu	37	2	179486302	179486302	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179486302C>T	uc010zfg.1	-	c.37545G>A	c.(37543-37545)CGG>CGA	p.R12515R	TTN_uc010zfh.1_Silent_p.R6210R|TTN_uc010zfi.1_Silent_p.R6143R|TTN_uc010zfj.1_Silent_p.R6018R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2847										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.0625	-4.255261	8.514324	4	60	KEEP	---	---	---	---	capture		Silent	SNP	179486302	179486302	17290	2	C	T	T	T	379	30	TTN	2	2
MYT1L	23040	broad.mit.edu	37	2	1893091	1893091	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1893091G>T	uc002qxe.2	-	c.2442C>A	c.(2440-2442)GGC>GGA	p.G814G	MYT1L_uc002qxd.2_Silent_p.G812G|MYT1L_uc010ewl.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	814					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.212121	33.416244	38.470892	14	52	KEEP	---	---	---	---	capture		Silent	SNP	1893091	1893091	10502	2	G	T	T	T	483	38	MYT1L	1	1
PGAP1	80055	broad.mit.edu	37	2	197791263	197791263	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197791263C>G	uc002utw.2	-	c.78G>C	c.(76-78)TGG>TGC	p.W26C	PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.W26C|PGAP1_uc010zgv.1_Intron|PGAP1_uc010fsj.2_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	26	Helical; (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4														0.175227	124.042802	156.975876	58	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197791263	197791263	12200	2	C	G	G	G	286	22	PGAP1	3	3
SUMO1	7341	broad.mit.edu	37	2	203084823	203084823	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:203084823T>C	uc002uyz.1	-	c.19A>G	c.(19-21)AAA>GAA	p.K7E	SUMO1_uc002uza.1_Intron	NM_001005781	NP_001005781	P63165	SUMO1_HUMAN	SMT3 suppressor of mif two 3 homolog 1 isoform a	7					DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding				0														0.264516	125.008628	132.774778	41	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203084823	203084823	15907	2	T	C	C	C	832	64	SUMO1	4	4
ABI2	10152	broad.mit.edu	37	2	204245042	204245042	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:204245042C>T	uc002vaa.2	+	c.397C>T	c.(397-399)CCA>TCA	p.P133S	ABI2_uc010zig.1_Non-coding_Transcript|ABI2_uc002uzz.2_Missense_Mutation_p.P133S|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.P133S|ABI2_uc010zij.1_Missense_Mutation_p.P77S|ABI2_uc002vab.2_Missense_Mutation_p.P88S|ABI2_uc010zik.1_5'UTR|ABI2_uc010zil.1_5'UTR|ABI2_uc010zim.1_5'UTR	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	133					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0														0.247706	68.968653	75.283371	27	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204245042	204245042	90	2	C	T	T	T	234	18	ABI2	2	2
FASTKD2	22868	broad.mit.edu	37	2	207651527	207651527	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207651527G>T	uc002vbu.2	+	c.1498G>T	c.(1498-1500)GAT>TAT	p.D500Y	FASTKD2_uc002vbv.2_Missense_Mutation_p.D500Y|FASTKD2_uc002vbx.2_Missense_Mutation_p.D500Y|FASTKD2_uc002vbw.1_Missense_Mutation_p.D500Y	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	500					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)	2				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)										0.165138	31.975454	43.581711	18	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207651527	207651527	5922	2	G	T	T	T	533	41	FASTKD2	2	2
CPS1	1373	broad.mit.edu	37	2	211527852	211527852	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211527852C>A	uc010fur.2	+	c.3951C>A	c.(3949-3951)CCC>CCA	p.P1317P	CPS1_uc002vee.3_Silent_p.P1311P|CPS1_uc010fus.2_Silent_p.P860P	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1311					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)										0.10989	9.383702	23.096066	10	81	KEEP	---	---	---	---	capture		Silent	SNP	211527852	211527852	3961	2	C	A	A	A	262	21	CPS1	2	2
APOB	338	broad.mit.edu	37	2	21233079	21233079	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21233079T>G	uc002red.2	-	c.6661A>C	c.(6661-6663)AAT>CAT	p.N2221H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2221				N -> I (in Ref. 5; CAA28420).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.071429	0.0907	8.038764	3	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21233079	21233079	796	2	T	G	G	G	832	64	APOB	4	4
ERBB4	2066	broad.mit.edu	37	2	212566794	212566794	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212566794T>G	uc002veg.1	-	c.1387A>C	c.(1387-1389)AAC>CAC	p.N463H	ERBB4_uc002veh.1_Missense_Mutation_p.N463H|ERBB4_uc010zji.1_Missense_Mutation_p.N463H|ERBB4_uc010zjj.1_Missense_Mutation_p.N463H|ERBB4_uc010fut.1_Missense_Mutation_p.N463H	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	463	Extracellular (Potential).				cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(12)|large_intestine(1)|breast(1)	14		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)						777	TSP Lung(8;0.080)			0.100917	14.145079	31.466941	11	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	212566794	212566794	5402	2	T	G	G	G	819	63	ERBB4	4	4
SPEG	10290	broad.mit.edu	37	2	220338542	220338542	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220338542G>T	uc010fwg.2	+	c.4364G>T	c.(4363-4365)AGC>ATC	p.S1455I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1455	Ig-like 7.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.323529	28.014076	28.953569	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220338542	220338542	15548	2	G	T	T	T	442	34	SPEG	2	2
UGT1A6	54578	broad.mit.edu	37	2	234602084	234602084	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234602084A>T	uc002vuv.3	+	c.434A>T	c.(433-435)GAT>GTT	p.D145V	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.D145V	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	145					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)										0.303571	89.004081	92.86293	34	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234602084	234602084	17507	2	A	T	T	T	156	12	UGT1A6	3	3
COL6A3	1293	broad.mit.edu	37	2	238274590	238274590	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238274590G>T	uc002vwl.2	-	c.5589C>A	c.(5587-5589)GAC>GAA	p.D1863E	COL6A3_uc002vwo.2_Missense_Mutation_p.D1657E|COL6A3_uc010znj.1_Missense_Mutation_p.D1256E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1863	VWFA 10.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.230216	82.63628	91.903574	32	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238274590	238274590	3839	2	G	T	T	T	516	40	COL6A3	1	1
YIPF4	84272	broad.mit.edu	37	2	32530586	32530586	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32530586G>T	uc002rok.2	+	c.626G>T	c.(625-627)AGT>ATT	p.S209I		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	209	Helical; (Potential).					endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.2	11.659846	13.753067	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32530586	32530586	18063	2	G	T	T	T	468	36	YIPF4	2	2
C2orf56	55471	broad.mit.edu	37	2	37463238	37463238	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37463238G>C	uc002rqa.3	+	c.217_splice	c.e3-1	p.G73_splice	C2orf56_uc010ynj.1_Splice_Site_SNP|C2orf56_uc002rqc.3_Intron|C2orf56_uc010ynk.1_Splice_Site_SNP_p.G73_splice|C2orf56_uc010ynl.1_Intron	NM_144736	NP_653337			hypothetical protein LOC55471 isoform 1						mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)												0.047059	-9.175025	9.405994	4	81	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	37463238	37463238	2265	2	G	C	C	C	455	35	C2orf56	5	3
THADA	63892	broad.mit.edu	37	2	43735790	43735790	+	Silent	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:43735790T>A	uc002rsw.3	-	c.3504A>T	c.(3502-3504)ATA>ATT	p.I1168I	THADA_uc010far.2_Silent_p.I437I|THADA_uc002rsx.3_Silent_p.I1168I|THADA_uc002rsy.3_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.2_Silent_p.I877I|THADA_uc010fat.1_Silent_p.I315I|THADA_uc002rta.2_Silent_p.I878I	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1168							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)												0.183908	33.950079	42.10492	16	71	KEEP	---	---	---	---	capture		Silent	SNP	43735790	43735790	16368	2	T	A	A	A	732	57	THADA	3	3
NAT8B	51471	broad.mit.edu	37	2	73928256	73928256	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73928256G>T	uc002sjk.1	-	c.177C>A	c.(175-177)TCC>TCA	p.S59S		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	N-acetyltransferase 8B	59	Helical; (Potential).				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity				0														0.183099	26.83063	33.526099	13	58	KEEP	---	---	---	---	capture		Silent	SNP	73928256	73928256	10576	2	G	T	T	T	444	35	NAT8B	2	2
MRPL35	51318	broad.mit.edu	37	2	86433236	86433236	+	Silent	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86433236A>T	uc002srg.3	+	c.51A>T	c.(49-51)CTA>CTT	p.L17L	MRPL35_uc002srf.3_Silent_p.L17L	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	17					translation	mitochondrial ribosome	structural constituent of ribosome				0														0.138889	16.819093	25.87735	10	62	KEEP	---	---	---	---	capture		Silent	SNP	86433236	86433236	10191	2	A	T	T	T	171	14	MRPL35	3	3
ZAP70	7535	broad.mit.edu	37	2	98351815	98351815	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98351815C>A	uc002syd.1	+	c.1185C>A	c.(1183-1185)AAC>AAA	p.N395K	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.N285K|ZAP70_uc002syf.1_Missense_Mutation_p.N88K	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	395	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5										138				0.058824	-14.025494	13.990874	8	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98351815	98351815	18097	2	C	A	A	A	233	18	ZAP70	2	2
ABI3BP	25890	broad.mit.edu	37	3	100511565	100511565	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100511565G>T	uc003dun.2	-	c.1936C>A	c.(1936-1938)CGA>AGA	p.R646R	ABI3BP_uc003duj.2_Silent_p.R201R|ABI3BP_uc003duk.2_Silent_p.R330R|ABI3BP_uc003dul.2_Silent_p.R451R|ABI3BP_uc011bhd.1_Silent_p.R600R|ABI3BP_uc003dum.2_Silent_p.R32R	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	646	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)	3														0.12844	22.798876	37.437556	14	95	KEEP	---	---	---	---	capture		Silent	SNP	100511565	100511565	92	3	G	T	T	T	519	40	ABI3BP	1	1
IMPG2	50939	broad.mit.edu	37	3	100963518	100963518	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100963518C>A	uc003duq.1	-	c.1657G>T	c.(1657-1659)GTG>TTG	p.V553L	IMPG2_uc011bhe.1_Missense_Mutation_p.V416L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	553	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3														0.221719	122.753436	138.5028	49	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100963518	100963518	8030	3	C	A	A	A	221	17	IMPG2	2	2
SENP7	57337	broad.mit.edu	37	3	101058994	101058994	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101058994C>G	uc003dut.2	-	c.2302G>C	c.(2302-2304)GAG>CAG	p.E768Q	SENP7_uc003duu.2_Missense_Mutation_p.E703Q|SENP7_uc003duv.2_Missense_Mutation_p.E735Q|SENP7_uc003duw.2_Missense_Mutation_p.E702Q|SENP7_uc003dux.2_Missense_Mutation_p.E604Q	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	768	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(2)|lung(1)	3														0.206897	15.933353	18.242253	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101058994	101058994	14537	3	C	G	G	G	390	30	SENP7	3	3
ATP2B2	491	broad.mit.edu	37	3	10382001	10382001	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10382001G>C	uc003bvt.2	-	c.3162C>G	c.(3160-3162)TTC>TTG	p.F1054L	ATP2B2_uc003bvv.2_Missense_Mutation_p.F1009L|ATP2B2_uc003bvw.2_Missense_Mutation_p.F1009L|ATP2B2_uc010hdo.2_Missense_Mutation_p.F759L	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1054	Extracellular (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|central_nervous_system(1)	4						Ovarian(125;1619 1709 15675 19819 38835)								0.124224	32.679317	54.913212	20	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10382001	10382001	1159	3	G	C	C	C	581	45	ATP2B2	3	3
MYH15	22989	broad.mit.edu	37	3	108124234	108124234	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108124234C>G	uc003dxa.1	-	c.4747G>C	c.(4747-4749)GAA>CAA	p.E1583Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1583	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.266667	25.186241	26.661504	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108124234	108124234	10429	3	C	G	G	G	416	32	MYH15	3	3
BOC	91653	broad.mit.edu	37	3	112991422	112991422	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112991422G>T	uc003dzz.2	+	c.833G>T	c.(832-834)CGC>CTC	p.R278L	BOC_uc003dzx.2_Missense_Mutation_p.R278L|BOC_uc003dzy.2_Missense_Mutation_p.R278L|BOC_uc003eab.2_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	278	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)											0.216981	48.805262	56.619682	23	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112991422	112991422	1506	3	G	T	T	T	494	38	BOC	1	1
ACAD9	28976	broad.mit.edu	37	3	128631436	128631436	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128631436G>T	uc003ela.3	+	c.1852G>T	c.(1852-1854)GAC>TAC	p.D618Y	KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.D495Y|ACAD9_uc003elb.2_Missense_Mutation_p.D495Y|ACAD9_uc003eld.1_Non-coding_Transcript|ACAD9_uc003ele.2_Missense_Mutation_p.D270Y	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	618					oxidation-reduction process	mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3														0.25641	24.631229	26.72991	10	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128631436	128631436	112	3	G	T	T	T	533	41	ACAD9	2	2
MSL2	55167	broad.mit.edu	37	3	135871276	135871276	+	Silent	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:135871276T>A	uc003eqx.1	-	c.447A>T	c.(445-447)TCA>TCT	p.S149S	MSL2_uc011bmb.1_Silent_p.S75S	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	149					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1														0.223684	43.137128	48.469695	17	59	KEEP	---	---	---	---	capture		Silent	SNP	135871276	135871276	10271	3	T	A	A	A	652	51	MSL2	3	3
PCCB	5096	broad.mit.edu	37	3	136019916	136019916	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:136019916C>T	uc011bmc.1	+	c.989C>T	c.(988-990)TCA>TTA	p.S330L	PCCB_uc003eqz.1_Missense_Mutation_p.S310L|PCCB_uc003eqy.1_Missense_Mutation_p.S310L|PCCB_uc011bmd.1_Missense_Mutation_p.S227L	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	310	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)									0.107143	5.710473	14.284811	6	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136019916	136019916	11925	3	C	T	T	T	377	29	PCCB	2	2
ATR	545	broad.mit.edu	37	3	142279274	142279274	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142279274G>T	uc003eux.3	-	c.1372C>A	c.(1372-1374)CAA>AAA	p.Q458K		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	458					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				0.234375	39.153545	43.243186	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142279274	142279274	1223	3	G	T	T	T	611	47	ATR	2	2
GRIP2	80852	broad.mit.edu	37	3	14552740	14552740	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14552740G>T	uc011avi.1	-	c.2160C>A	c.(2158-2160)GCC>GCA	p.A720A	GRIP2_uc010heh.2_Non-coding_Transcript|GRIP2_uc011avh.1_Silent_p.A251A	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	622	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1														0.185185	11.661639	14.168405	5	22	KEEP	---	---	---	---	capture		Silent	SNP	14552740	14552740	7067	3	G	T	T	T	496	39	GRIP2	1	1
AGTR1	185	broad.mit.edu	37	3	148459755	148459755	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148459755A>T	uc003ewg.2	+	c.933A>T	c.(931-933)AGA>AGT	p.R311S	AGTR1_uc003ewh.2_Missense_Mutation_p.R311S|AGTR1_uc003ewi.2_Missense_Mutation_p.R311S|AGTR1_uc003ewj.2_Missense_Mutation_p.R311S|AGTR1_uc003ewk.2_Missense_Mutation_p.R311S	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	311	Cytoplasmic (Potential).			RYF -> KDI (in Ref. 6; BAA02968).	calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|oxygen and reactive oxygen species metabolic process|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|regulation of blood vessel size by renin-angiotensin|regulation of cell growth|regulation of cell proliferation|regulation of natriuresis|regulation of vasoconstriction|regulation of vasodilation|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction	integral to plasma membrane	acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)									0.285714	26.135481	27.577819	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148459755	148459755	404	3	A	T	T	T	154	12	AGTR1	3	3
GMPS	8833	broad.mit.edu	37	3	155649577	155649577	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155649577C>A	uc003faq.2	+	c.1584C>A	c.(1582-1584)TAC>TAA	p.Y528*	GMPS_uc011bom.1_Nonsense_Mutation_p.Y429*	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	528					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Ovarian(153;896 1876 4149 15499 28134)				552				0.177305	56.888149	70.717709	25	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	155649577	155649577	6767	3	C	A	A	A	246	19	GMPS	5	1
PLCL2	23228	broad.mit.edu	37	3	17051619	17051619	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17051619G>C	uc011awc.1	+	c.757G>C	c.(757-759)GAA>CAA	p.E253Q	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.1_Missense_Mutation_p.E135Q	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	261					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2														0.052632	-7.157234	8.913217	4	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17051619	17051619	12466	3	G	C	C	C	429	33	PLCL2	3	3
TBC1D5	9779	broad.mit.edu	37	3	17446185	17446185	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17446185C>T	uc010hev.2	-	c.441_splice	c.e8+1	p.G147_splice	TBC1D5_uc003cbf.2_Splice_Site_SNP_p.G147_splice|TBC1D5_uc003cbe.2_Splice_Site_SNP_p.G147_splice|TBC1D5_uc010hew.1_Splice_Site_SNP_p.G99_splice	NM_001134381	NP_001127853			TBC1 domain family, member 5 isoform a							intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1														0.102804	27.725931	78.189529	33	288	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	17446185	17446185	16149	3	C	T	T	T	234	18	TBC1D5	5	2
ABCF3	55324	broad.mit.edu	37	3	183905677	183905677	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183905677G>T	uc003fmz.2	+	c.475G>T	c.(475-477)GCA>TCA	p.A159S	ABCF3_uc003fna.2_Missense_Mutation_p.A153S|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	159							ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.189655	23.389423	28.615284	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183905677	183905677	68	3	G	T	T	T	546	42	ABCF3	2	2
KCNH8	131096	broad.mit.edu	37	3	19492795	19492795	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19492795G>T	uc003cbk.1	+	c.1724G>T	c.(1723-1725)GGG>GTG	p.G575V	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.G36V|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	575	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.175824	32.040007	41.060704	16	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19492795	19492795	8343	3	G	T	T	T	559	43	KCNH8	2	2
KIAA0226	9711	broad.mit.edu	37	3	197428579	197428579	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:197428579C>A	uc003fyc.2	-	c.727G>T	c.(727-729)GAG>TAG	p.E243*	KIAA0226_uc003fyd.3_Nonsense_Mutation_p.E183*|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Nonsense_Mutation_p.E76*|KIAA0226_uc003fyg.2_Nonsense_Mutation_p.E236*	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	243	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		Esophageal Squamous(3;167 355 3763 15924)								0.205128	18.776612	21.923228	8	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	197428579	197428579	8469	3	C	A	A	A	312	24	KIAA0226	5	2
LAMB2	3913	broad.mit.edu	37	3	49158970	49158970	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49158970C>T	uc003cwe.2	-	c.5156G>A	c.(5155-5157)CGC>CAC	p.R1719H	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1719	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.352941	36.69678	37.342062	12	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49158970	49158970	8934	3	C	T	T	T	351	27	LAMB2	1	1
VPRBP	9730	broad.mit.edu	37	3	51457540	51457540	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51457540C>A	uc003dbe.1	-	c.2884G>T	c.(2884-2886)GAG>TAG	p.E962*	VPRBP_uc003dbf.1_Nonsense_Mutation_p.E238*	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	962					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)										0.203008	56.741971	67.644039	27	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51457540	51457540	17752	3	C	A	A	A	416	32	VPRBP	5	2
PTPRG	5793	broad.mit.edu	37	3	61548019	61548019	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:61548019G>T	uc003dlb.2	+	c.58G>T	c.(58-60)GTG>TTG	p.V20L	PTPRG_uc003dlc.2_Missense_Mutation_p.V20L|PTPRG_uc003dla.3_Non-coding_Transcript	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	20	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)										0.21875	17.512014	19.841241	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61548019	61548019	13259	3	G	T	T	T	520	40	PTPRG	1	1
TMF1	7110	broad.mit.edu	37	3	69087813	69087813	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69087813C>A	uc011bfx.1	-	c.2062G>T	c.(2062-2064)GCT>TCT	p.A688S	TMF1_uc003dnn.2_Missense_Mutation_p.A685S	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	685	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|RNA polymerase II transcription factor activity|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)										0.16	22.549294	30.807332	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69087813	69087813	16768	3	C	A	A	A	325	25	TMF1	2	2
CLNK	116449	broad.mit.edu	37	4	10492115	10492115	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:10492115G>T	uc003gmo.3	-	c.1263C>A	c.(1261-1263)CTC>CTA	p.L421L		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	421					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						GBM(87;402 1286 6949 13902 35851)								0.25	7.61881	8.300828	3	9	KEEP	---	---	---	---	capture		Silent	SNP	10492115	10492115	3685	4	G	T	T	T	574	45	CLNK	2	2
AGXT2L1	64850	broad.mit.edu	37	4	109674112	109674112	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109674112G>T	uc003hzc.2	-	c.557C>A	c.(556-558)GCC>GAC	p.A186D	AGXT2L1_uc010imc.2_Missense_Mutation_p.A180D|AGXT2L1_uc011cfm.1_Missense_Mutation_p.A146D|AGXT2L1_uc011cfn.1_Missense_Mutation_p.A113D|AGXT2L1_uc011cfo.1_Missense_Mutation_p.A128D	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	186					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)										0.12	7.111588	14.197611	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109674112	109674112	409	4	G	T	T	T	546	42	AGXT2L1	2	2
PCDH10	57575	broad.mit.edu	37	4	134072874	134072874	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134072874G>C	uc003iha.2	+	c.1579G>C	c.(1579-1581)GCC>CCC	p.A527P	PCDH10_uc003igz.2_Missense_Mutation_p.A527P	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	527	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.122449	9.91878	16.753056	6	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134072874	134072874	11927	4	G	C	C	C	494	38	PCDH10	3	3
CLGN	1047	broad.mit.edu	37	4	141315153	141315153	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:141315153C>T	uc011chi.1	-	c.1192G>A	c.(1192-1194)GAA>AAA	p.E398K	CLGN_uc003iii.2_Missense_Mutation_p.E398K	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	398	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)	2	all_hematologic(180;0.162)													0.2	19.190853	22.528564	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141315153	141315153	3662	4	C	T	T	T	403	31	CLGN	1	1
DCHS2	54798	broad.mit.edu	37	4	155256138	155256138	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155256138G>T	uc003inw.2	-	c.1098C>A	c.(1096-1098)CAC>CAA	p.H366Q	DCHS2_uc003inx.2_Missense_Mutation_p.H865Q	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	366	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.243902	51.873398	56.764781	20	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155256138	155256138	4459	4	G	T	T	T	620	48	DCHS2	2	2
GABRA4	2557	broad.mit.edu	37	4	46930518	46930518	+	Silent	SNP	A	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46930518A>G	uc003gxg.2	-	c.1389T>C	c.(1387-1389)TAT>TAC	p.Y463Y		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	463	Cytoplasmic (Probable).			Y -> H (in Ref. 1; AAB52519).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.085106	2.729162	19.144956	8	86	KEEP	---	---	---	---	capture		Silent	SNP	46930518	46930518	6414	4	A	G	G	G	206	16	GABRA4	4	4
LRRC66	339977	broad.mit.edu	37	4	52861508	52861508	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52861508G>T	uc003gzi.2	-	c.1680C>A	c.(1678-1680)GGC>GGA	p.G560G		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	560						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.137931	32.892121	54.953891	24	150	KEEP	---	---	---	---	capture		Silent	SNP	52861508	52861508	9393	4	G	T	T	T	587	46	LRRC66	2	2
TMPRSS11B	132724	broad.mit.edu	37	4	69095079	69095079	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69095079G>T	uc003hdw.3	-	c.842C>A	c.(841-843)TCT>TAT	p.S281Y		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	281	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.169231	20.080231	26.817124	11	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69095079	69095079	16780	4	G	T	T	T	429	33	TMPRSS11B	2	2
UGT2A1	10941	broad.mit.edu	37	4	70505129	70505129	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70505129G>C	uc011caq.1	-	c.833C>G	c.(832-834)CCT>CGT	p.P278R	UGT2A1_uc010ihu.2_Intron|UGT2A1_uc003hem.3_Intron|UGT2A1_uc010iht.2_Intron|UGT2A1_uc010ihs.2_Missense_Mutation_p.P69R	NM_001105677	NP_001099147	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	68	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1														0.25	149.586042	163.317859	60	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70505129	70505129	17511	4	G	C	C	C	455	35	UGT2A1	3	3
C4orf35	85438	broad.mit.edu	37	4	71201385	71201385	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71201385C>A	uc003hff.2	+	c.629C>A	c.(628-630)TCC>TAC	p.S210Y		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	210						flagellum	calcium ion binding				0		all_hematologic(202;0.196)												0.257143	64.768849	70.388479	27	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71201385	71201385	2360	4	C	A	A	A	390	30	C4orf35	2	2
MRPL1	65008	broad.mit.edu	37	4	78792919	78792919	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:78792919A>T	uc003hku.2	+	c.53A>T	c.(52-54)CAT>CTT	p.H18L		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1 precursor	18					RNA processing		RNA binding				0														0.166667	30.227535	38.441907	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78792919	78792919	10167	4	A	T	T	T	104	8	MRPL1	3	3
FRAS1	80144	broad.mit.edu	37	4	79258885	79258885	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79258885G>T	uc003hlb.2	+	c.2336G>T	c.(2335-2337)TGT>TTT	p.C779F	FRAS1_uc003hkw.2_Missense_Mutation_p.C779F|FRAS1_uc003hkz.2_Missense_Mutation_p.C483F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	779	FU 8.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.044041	-49.965801	35.958867	17	369	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79258885	79258885	6288	4	G	T	T	T	624	48	FRAS1	2	2
FRAS1	80144	broad.mit.edu	37	4	79301129	79301129	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79301129T>C	uc003hlb.2	+	c.3542T>C	c.(3541-3543)GTG>GCG	p.V1181A	FRAS1_uc003hkw.2_Missense_Mutation_p.V1181A	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1180	CSPG 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.176471	60.043249	76.822322	30	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79301129	79301129	6288	4	T	C	C	C	767	59	FRAS1	4	4
SH3TC1	54436	broad.mit.edu	37	4	8224565	8224565	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8224565A>T	uc003gkv.3	+	c.1113_splice	c.e10-2	p.E371_splice	SH3TC1_uc003gkw.3_Splice_Site_SNP_p.E295_splice|SH3TC1_uc003gkx.3_Splice_Site_SNP	NM_018986	NP_061859			SH3 domain and tetratricopeptide repeats 1								binding			large_intestine(2)|pancreas(1)	3						NSCLC(145;2298 2623 35616 37297)								0.266667	11.593105	12.330785	4	11	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	8224565	8224565	14753	4	A	T	T	T	91	7	SH3TC1	5	3
SEC31A	22872	broad.mit.edu	37	4	83784523	83784523	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:83784523C>A	uc003hnf.2	-	c.1457G>T	c.(1456-1458)CGT>CTT	p.R486L	SEC31A_uc003hne.2_Missense_Mutation_p.R258L|SEC31A_uc011ccl.1_Missense_Mutation_p.R486L|SEC31A_uc003hnl.2_Missense_Mutation_p.R486L|SEC31A_uc003hng.2_Missense_Mutation_p.R486L|SEC31A_uc003hnh.2_Missense_Mutation_p.R486L|SEC31A_uc003hni.2_Missense_Mutation_p.R486L|SEC31A_uc003hnj.2_Missense_Mutation_p.R486L|SEC31A_uc011ccm.1_Missense_Mutation_p.R481L|SEC31A_uc011ccn.1_Missense_Mutation_p.R486L|SEC31A_uc003hnk.2_Missense_Mutation_p.R486L|SEC31A_uc003hnm.2_Missense_Mutation_p.R486L|SEC31A_uc003hnn.1_Missense_Mutation_p.R486L|SEC31A_uc003hno.2_Missense_Mutation_p.R486L	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	486					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)												0.133333	7.681793	11.593482	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83784523	83784523	14484	4	C	A	A	A	247	19	SEC31A	1	1
GRID2	2895	broad.mit.edu	37	4	94436539	94436539	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94436539G>C	uc011cdt.1	+	c.2170G>C	c.(2170-2172)GAG>CAG	p.E724Q	GRID2_uc011cdu.1_Missense_Mutation_p.E629Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	724	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.232143	35.746435	39.425674	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94436539	94436539	7050	4	G	C	C	C	533	41	GRID2	3	3
BMPR1B	658	broad.mit.edu	37	4	96025651	96025651	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96025651C>T	uc003htm.3	+	c.76C>T	c.(76-78)CGT>TGT	p.R26C	BMPR1B_uc010ilb.2_Missense_Mutation_p.R26C|BMPR1B_uc003htn.3_Missense_Mutation_p.R26C	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	26	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|protein phosphorylation	integral to plasma membrane|receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(2)|stomach(1)|skin(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)						166				0.12	12.025633	22.647444	9	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96025651	96025651	1495	4	C	T	T	T	299	23	BMPR1B	1	1
DRD5	1816	broad.mit.edu	37	4	9784013	9784013	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9784013C>A	uc003gmb.3	+	c.360C>A	c.(358-360)GAC>GAA	p.D120E		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	120	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.108108	4.276122	9.906305	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9784013	9784013	4944	4	C	A	A	A	220	17	DRD5	2	2
DRD5	1816	broad.mit.edu	37	4	9784138	9784138	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9784138G>T	uc003gmb.3	+	c.485G>T	c.(484-486)GGC>GTC	p.G162V		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	162	Helical; Name=4; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.219512	21.454009	24.424333	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9784138	9784138	4944	4	G	T	T	T	546	42	DRD5	2	2
MEGF10	84466	broad.mit.edu	37	5	126705635	126705635	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126705635G>C	uc003kuh.3	+	c.353G>C	c.(352-354)TGT>TCT	p.C118S	MEGF10_uc010jdc.1_Missense_Mutation_p.C118S|MEGF10_uc010jdd.1_Missense_Mutation_p.C118S|MEGF10_uc003kui.3_Missense_Mutation_p.C118S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	118	Extracellular (Potential).|EGF-like 1.|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)										0.142857	14.690519	20.713283	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126705635	126705635	9849	5	G	C	C	C	624	48	MEGF10	3	3
CLPTM1L	81037	broad.mit.edu	37	5	1334426	1334426	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1334426G>A	uc003jch.2	-	c.869C>T	c.(868-870)ACC>ATC	p.T290I	CLPTM1L_uc003jcg.2_Missense_Mutation_p.T157I	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	290	Helical; (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)						276				0.083333	0.595197	6.94857	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1334426	1334426	3693	5	G	A	A	A	572	44	CLPTM1L	2	2
DNAH5	1767	broad.mit.edu	37	5	13792290	13792291	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13792290_13792291CC>AA	uc003jfd.2	-	c.8260_8261GG>TT	c.(8260-8262)GGT>TTT	p.G2754F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2754	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.114286	9.046728	19.319047	8	62	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	13792290	13792291	4787	5	CC	AA	AA	AA	234	18	DNAH5	2	2
PCDHA12	56137	broad.mit.edu	37	5	140255726	140255726	+	Silent	SNP	A	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140255726A>G	uc003lic.2	+	c.669A>G	c.(667-669)ACA>ACG	p.T223T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.T223T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	223	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Pancreas(113;759 1672 13322 24104 50104)								0.188679	20.413128	25.229515	10	43	KEEP	---	---	---	---	capture		Silent	SNP	140255726	140255726	11942	5	A	G	G	G	80	7	PCDHA12	4	4
PCDHB10	56126	broad.mit.edu	37	5	140572791	140572791	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140572791G>T	uc003lix.2	+	c.666G>T	c.(664-666)AGG>AGT	p.R222S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	222	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.284314	79.430609	83.692157	29	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140572791	140572791	11955	5	G	T	T	T	568	44	PCDHB10	2	2
PCDHGA2	56113	broad.mit.edu	37	5	140719583	140719583	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140719583A>T	uc003ljk.1	+	c.1045A>T	c.(1045-1047)ATG>TTG	p.M349L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.M349L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	349	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.129771	28.389756	45.858851	17	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140719583	140719583	11974	5	A	T	T	T	104	8	PCDHGA2	3	3
PCDHGB2	56103	broad.mit.edu	37	5	140740333	140740333	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140740333G>T	uc003ljs.1	+	c.631G>T	c.(631-633)GTC>TTC	p.V211F	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_uc011dar.1_Missense_Mutation_p.V211F	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	211	Extracellular (Potential).|Cadherin 2.				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)											0.234375	36.592472	40.723983	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140740333	140740333	11983	5	G	T	T	T	572	44	PCDHGB2	2	2
PCDHGA5	56110	broad.mit.edu	37	5	140744814	140744814	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140744814C>T	uc003lju.1	+	c.917C>T	c.(916-918)TCA>TTA	p.S306L	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_uc011das.1_Missense_Mutation_p.S306L	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	306	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.166667	9.923166	13.72287	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140744814	140744814	11977	5	C	T	T	T	377	29	PCDHGA5	2	2
LARS	51520	broad.mit.edu	37	5	145506030	145506031	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145506030_145506031TC>GT	uc003lnx.1	-	c.2958_2959GA>AC	c.(2956-2961)ATGAAG>ATACAG	p.986_987MK>IQ	LARS_uc003lnw.1_Missense_Mutation_p.144_145MK>IQ|LARS_uc011dbq.1_Missense_Mutation_p.940_941MK>IQ|LARS_uc011dbr.1_Missense_Mutation_p.932_933MK>IQ|LARS_uc011dbs.1_Missense_Mutation_p.959_960MK>IQ	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	986_987					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)									0.16129	11.955278	15.338174	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	145506030	145506031	8957	5	TC	GT	GT	GT	806	62	LARS	4	4
HMMR	3161	broad.mit.edu	37	5	162917412	162917412	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:162917412G>C	uc003lzh.2	+	c.1979G>C	c.(1978-1980)CGC>CCC	p.R660P	HMMR_uc003lzf.2_Missense_Mutation_p.R659P|HMMR_uc003lzg.2_Missense_Mutation_p.R644P|HMMR_uc011dem.1_Missense_Mutation_p.R573P	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform a	659	Hyaluronic acid-binding (Potential).					cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)						703				0.108108	11.250773	22.510978	8	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162917412	162917412	7534	5	G	C	C	C	494	38	HMMR	3	3
DOCK2	1794	broad.mit.edu	37	5	169101394	169101394	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169101394G>T	uc003maf.2	+	c.415G>T	c.(415-417)GAT>TAT	p.D139Y	DOCK2_uc011der.1_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	139					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)											0.121495	12.499092	27.528647	13	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169101394	169101394	4871	5	G	T	T	T	533	41	DOCK2	2	2
BTNL3	10917	broad.mit.edu	37	5	180432597	180432597	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180432597G>T	uc003mmr.2	+	c.1126G>T	c.(1126-1128)GGG>TGG	p.G376W	BTNL3_uc010jlp.2_Missense_Mutation_p.G161W	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3 precursor	376	B30.2/SPRY.|Cytoplasmic (Potential).				lipid metabolic process	integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)											0.153846	27.224253	39.154782	16	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180432597	180432597	1600	5	G	T	T	T	611	47	BTNL3	2	2
PRLR	5618	broad.mit.edu	37	5	35065278	35065278	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35065278G>T	uc003jjm.2	-	c.1782C>A	c.(1780-1782)AAC>AAA	p.N594K	PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.N493K	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	594	Cytoplasmic (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)	2	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)									0.130841	20.673956	34.856434	14	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35065278	35065278	12974	5	G	T	T	T	464	36	PRLR	2	2
GDNF	2668	broad.mit.edu	37	5	37815778	37815778	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37815778G>T	uc011cpg.1	-	c.662C>A	c.(661-663)TCC>TAC	p.S221Y	GDNF_uc011cpc.1_Missense_Mutation_p.S126Y|GDNF_uc011cpd.1_Missense_Mutation_p.S152Y|GDNF_uc011cpe.1_Missense_Mutation_p.S178Y|GDNF_uc011cpf.1_Missense_Mutation_p.S178Y|GDNF_uc011cph.1_Missense_Mutation_p.S195Y|GDNF_uc011cpi.1_Missense_Mutation_p.S204Y	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	204					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of monooxygenase activity|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)													0.230159	65.431385	73.827699	29	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37815778	37815778	6590	5	G	T	T	T	533	41	GDNF	2	2
C7	730	broad.mit.edu	37	5	40950045	40950045	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40950045G>T	uc003jmh.2	+	c.1022G>T	c.(1021-1023)GGT>GTT	p.G341V	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	341	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.26087	15.838584	17.029661	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40950045	40950045	2482	5	G	T	T	T	572	44	C7	2	2
GHR	2690	broad.mit.edu	37	5	42689048	42689048	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:42689048T>C	uc003jmt.2	+	c.193T>C	c.(193-195)TCA>CCA	p.S65P	GHR_uc011cpq.1_Intron	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	65	Extracellular (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(2)|kidney(1)	3		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)					274				0.222826	112.380736	125.377428	41	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42689048	42689048	6639	5	T	C	C	C	806	62	GHR	4	4
F2RL2	2151	broad.mit.edu	37	5	75914382	75914382	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75914382C>A	uc003kem.2	-	c.150G>T	c.(148-150)GAG>GAT	p.E50D	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.E28D	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	50	Extracellular (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)										0.129032	26.709481	47.682695	20	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75914382	75914382	5539	5	C	A	A	A	259	20	F2RL2	2	2
ACOT12	134526	broad.mit.edu	37	5	80655813	80655813	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80655813C>A	uc003khl.3	-	c.405G>T	c.(403-405)GTG>GTT	p.V135V	RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Silent_p.V135V	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	135					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)										0.205882	17.304824	20.032579	7	27	KEEP	---	---	---	---	capture		Silent	SNP	80655813	80655813	151	5	C	A	A	A	262	21	ACOT12	2	2
GRIK2	2898	broad.mit.edu	37	6	102134215	102134215	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102134215A>T	uc003pqp.3	+	c.938A>T	c.(937-939)GAT>GTT	p.D313V	GRIK2_uc003pqn.2_Missense_Mutation_p.D313V|GRIK2_uc003pqo.3_Missense_Mutation_p.D313V|GRIK2_uc010kcw.2_Missense_Mutation_p.D313V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	313	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|breast(1)|pancreas(1)	4		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)									0.35	60.758201	61.948689	21	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102134215	102134215	7053	6	A	T	T	T	156	12	GRIK2	3	3
RFX6	222546	broad.mit.edu	37	6	117250118	117250118	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117250118T>A	uc003pxm.2	+	c.2595T>A	c.(2593-2595)TGT>TGA	p.C865*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	865					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.228571	18.981261	21.347082	8	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	117250118	117250118	13739	6	T	A	A	A	751	58	RFX6	5	3
KIAA1244	57221	broad.mit.edu	37	6	138607844	138607844	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:138607844C>T	uc003qhu.2	+	c.2576C>T	c.(2575-2577)GCA>GTA	p.A859V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	859					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)										0.174419	26.165773	34.77634	15	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138607844	138607844	8526	6	C	T	T	T	325	25	KIAA1244	2	2
GRM1	2911	broad.mit.edu	37	6	146755823	146755823	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146755823G>C	uc010khw.1	+	c.3476G>C	c.(3475-3477)AGC>ACC	p.S1159T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1159	Ser-rich.|Cytoplasmic (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)									0.19697	29.434148	35.08292	13	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146755823	146755823	7075	6	G	C	C	C	442	34	GRM1	3	3
SYNE1	23345	broad.mit.edu	37	6	152861100	152861101	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152861100_152861101CC>AA	uc010kiw.2	-	c.123_124GG>TT	c.(121-126)CTGGCC>CTTTCC	p.A42S	SYNE1_uc003qot.3_Missense_Mutation_p.A42S|SYNE1_uc003qou.3_Missense_Mutation_p.A42S|SYNE1_uc010kjb.1_Missense_Mutation_p.A42S|SYNE1_uc003qpa.1_Missense_Mutation_p.A42S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	42	Actin-binding.|Cytoplasmic (Potential).|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.222222	38.467948	43.574925	16	56	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	152861100	152861101	15966	6	CC	AA	AA	AA	338	26	SYNE1	2	2
DEK	7913	broad.mit.edu	37	6	18250029	18250029	+	Silent	SNP	T	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:18250029T>C	uc003ncr.1	-	c.615A>G	c.(613-615)AAA>AAG	p.K205K	DEK_uc011djf.1_Silent_p.K171K|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	205	Nuclear localization signal (Potential).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|viral genome replication	nucleus	DNA binding|histone binding|specific RNA polymerase II transcription factor activity			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)							131				0.236842	25.955825	28.360578	9	29	KEEP	---	---	---	---	capture		Silent	SNP	18250029	18250029	4603	6	T	C	C	C	829	64	DEK	4	4
DCDC2	51473	broad.mit.edu	37	6	24178818	24178818	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24178818C>A	uc003ndx.2	-	c.1066G>T	c.(1066-1068)GCA>TCA	p.A356S	DCDC2_uc003ndy.2_Missense_Mutation_p.A356S|DCDC2_uc003ndw.2_Missense_Mutation_p.A107S	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	356					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)												0.082474	0.436701	17.629148	8	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24178818	24178818	4456	6	C	A	A	A	338	26	DCDC2	2	2
SLC17A3	10786	broad.mit.edu	37	6	25850352	25850352	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25850352C>A	uc003nfk.3	-	c.1047G>T	c.(1045-1047)GTG>GTT	p.V349V	SLC17A3_uc003nfi.3_Silent_p.V271V|SLC17A3_uc011djz.1_3'UTR	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	271	Helical; (Potential).				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0														0.195122	37.849783	44.958516	16	66	KEEP	---	---	---	---	capture		Silent	SNP	25850352	25850352	14914	6	C	A	A	A	262	21	SLC17A3	2	2
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26056117C>T	uc003nfw.2	-	c.540G>A	c.(538-540)GCG>GCA	p.A180A		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3														0.081818	1.911487	21.472626	9	101	KEEP	---	---	---	---	capture		Silent	SNP	26056117	26056117	7409	6	C	T	T	T	392	31	HIST1H1C	1	1
OR2B6	26212	broad.mit.edu	37	6	27925140	27925140	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27925140G>T	uc011dkx.1	+	c.122G>T	c.(121-123)GGC>GTC	p.G41V		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.293578	84.854425	89.013283	32	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27925140	27925140	11397	6	G	T	T	T	546	42	OR2B6	2	2
HSPA1L	3305	broad.mit.edu	37	6	31778780	31778780	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31778780G>A	uc003nxh.2	-	c.970C>T	c.(970-972)CGG>TGG	p.R324W	HSPA1L_uc010jte.2_Missense_Mutation_p.R324W	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	324					response to unfolded protein		ATP binding			ovary(3)|kidney(1)|pleura(1)	5										2				0.083333	1.034784	11.615508	5	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31778780	31778780	7709	6	G	A	A	A	480	37	HSPA1L	1	1
FGD2	221472	broad.mit.edu	37	6	36981397	36981398	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36981397_36981398CC>AA	uc010jwp.1	+	c.540_541CC>AA	c.(538-543)CCCCGC>CCAAGC	p.R181S	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	181	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			lung(1)|pancreas(1)	2														0.292308	49.994097	52.581547	19	46	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	36981397	36981398	6070	6	CC	AA	AA	AA	275	22	FGD2	2	2
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:40359793C>T	uc003oph.1	-	c.2259G>A	c.(2257-2259)ACG>ACA	p.T753T		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	753	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.113924	10.72896	22.33193	9	70	KEEP	---	---	---	---	capture		Silent	SNP	40359793	40359793	9311	6	C	T	T	T	392	31	LRFN2	1	1
APOBEC2	10930	broad.mit.edu	37	6	41029415	41029415	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41029415G>A	uc003opl.2	+	c.480G>A	c.(478-480)CCG>CCA	p.P160P	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	160					mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					Ovarian(118;1320 2185 8096 29684)								0.177966	44.506062	56.028064	21	97	KEEP	---	---	---	---	capture		Silent	SNP	41029415	41029415	799	6	G	A	A	A	496	39	APOBEC2	1	1
TRERF1	55809	broad.mit.edu	37	6	42235934	42235934	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42235934C>A	uc003ose.2	-	c.1395G>T	c.(1393-1395)GGG>GGT	p.G465G	TRERF1_uc011duq.1_Silent_p.G465G|TRERF1_uc003osb.2_Silent_p.G304G|TRERF1_uc003osc.2_Silent_p.G304G|TRERF1_uc003osd.2_Silent_p.G465G	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	465	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription mediator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)											0.206897	25.374186	29.988096	12	46	KEEP	---	---	---	---	capture		Silent	SNP	42235934	42235934	17019	6	C	A	A	A	327	26	TRERF1	2	2
TRERF1	55809	broad.mit.edu	37	6	42236657	42236657	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42236657C>A	uc003ose.2	-	c.672G>T	c.(670-672)GGG>GGT	p.G224G	TRERF1_uc011duq.1_Silent_p.G224G|TRERF1_uc003osb.2_Silent_p.G63G|TRERF1_uc003osc.2_Silent_p.G63G|TRERF1_uc003osd.2_Silent_p.G224G	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	224	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription mediator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)											0.333333	94.965852	97.621906	36	72	KEEP	---	---	---	---	capture		Silent	SNP	42236657	42236657	17019	6	C	A	A	A	327	26	TRERF1	2	2
ACHE	43	broad.mit.edu	37	7	100490831	100490831	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100490831G>T	uc003uxe.2	-	c.1023C>A	c.(1021-1023)GAC>GAA	p.D341E	ACHE_uc003uxd.2_Missense_Mutation_p.D341E|ACHE_uc003uxf.2_Missense_Mutation_p.D341E|ACHE_uc003uxg.2_Missense_Mutation_p.D341E|ACHE_uc003uxh.2_Missense_Mutation_p.D341E|ACHE_uc003uxi.2_Missense_Mutation_p.D341E|ACHE_uc003uxj.1_Missense_Mutation_p.D460E	NM_015831	NP_056646	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E5 precursor	341					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|negative regulation of synaptic transmission, cholinergic|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)									0.32	22.790811	23.510668	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100490831	100490831	142	7	G	T	T	T	620	48	ACHE	2	2
MET	4233	broad.mit.edu	37	7	116435746	116435746	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116435746G>T	uc010lkh.2	+	c.3890G>T	c.(3889-3891)AGA>ATA	p.R1297I	MET_uc003vij.2_Missense_Mutation_p.R1279I|MET_uc011knj.1_Missense_Mutation_p.R849I	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	1279	Protein kinase.|Interaction with RANBP9.|Cytoplasmic (Potential).				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)							299		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.055749	-30.421111	29.175917	16	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116435746	116435746	9874	7	G	T	T	T	429	33	MET	2	2
OPN1SW	611	broad.mit.edu	37	7	128415641	128415641	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128415641G>T	uc003vnt.3	-	c.204C>A	c.(202-204)CCC>CCA	p.P68P		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	68	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0														0.115789	6.163745	20.031592	11	84	KEEP	---	---	---	---	capture		Silent	SNP	128415641	128415641	11286	7	G	T	T	T	548	43	OPN1SW	2	2
DGKI	9162	broad.mit.edu	37	7	137341260	137341260	+	Silent	SNP	T	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137341260T>G	uc003vtt.2	-	c.633A>C	c.(631-633)GCA>GCC	p.A211A	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	211	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2												OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.078652	1.205982	33.500383	14	164	KEEP	---	---	---	---	capture		Silent	SNP	137341260	137341260	4650	7	T	G	G	G	704	55	DGKI	4	4
JHDM1D	80853	broad.mit.edu	37	7	139833408	139833408	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139833408T>A	uc003vvm.2	-	c.329A>T	c.(328-330)GAT>GTT	p.D110V		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	110	Linker.				midbrain development|oxidation-reduction process|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)													0.131579	7.648252	12.661258	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139833408	139833408	8252	7	T	A	A	A	650	50	JHDM1D	3	3
KCNH2	3757	broad.mit.edu	37	7	150648759	150648759	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150648759C>A	uc003wic.2	-	c.1722G>T	c.(1720-1722)ATG>ATT	p.M574I	KCNH2_uc003wib.2_Missense_Mutation_p.M234I|KCNH2_uc011kux.1_Missense_Mutation_p.M478I|KCNH2_uc003wid.2_Missense_Mutation_p.M234I|KCNH2_uc003wie.2_Missense_Mutation_p.M574I	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	574	Extracellular (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			ovary(1)|skin(1)	2	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GBM(137;110 1844 13671 20123 45161)				314				0.173913	7.386423	9.694712	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150648759	150648759	8337	7	C	A	A	A	273	21	KCNH2	2	2
HTR5A	3361	broad.mit.edu	37	7	154862888	154862888	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154862888C>A	uc003wlu.1	+	c.279C>A	c.(277-279)GTC>GTA	p.V93V		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	93	Helical; Name=2; (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)										0.409091	25.06881	25.228161	9	13	KEEP	---	---	---	---	capture		Silent	SNP	154862888	154862888	7750	7	C	A	A	A	366	29	HTR5A	2	2
MEOX2	4223	broad.mit.edu	37	7	15725982	15725983	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15725982_15725983CC>TT	uc003stc.2	-	c.45_46GG>AA	c.(43-48)ACGGCG>ACAACG	p.A16T	MEOX2_uc011jxw.1_Missense_Mutation_p.A16T	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	16					blood circulation|multicellular organismal development|regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		Esophageal Squamous(140;197 1769 16409 18257 29929)								0.428571	18.448112	18.510319	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	15725982	15725983	9863	7	CC	TT	TT	TT	338	26	MEOX2	2	2
HOXA3	3200	broad.mit.edu	37	7	27147963	27147963	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27147963G>T	uc011jzl.1	-	c.903C>A	c.(901-903)CCC>CCA	p.P301P	HOXA3_uc011jzk.1_Silent_p.P143P|HOXA3_uc003syk.2_Silent_p.P301P	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	301					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)								0.5	47.299098	47.299098	16	16	KEEP	---	---	---	---	capture		Silent	SNP	27147963	27147963	7585	7	G	T	T	T	548	43	HOXA3	2	2
TBX20	57057	broad.mit.edu	37	7	35242075	35242075	+	Silent	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:35242075G>A	uc011kas.1	-	c.1311C>T	c.(1309-1311)CGC>CGT	p.R437R		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	437						nucleus	DNA binding			central_nervous_system(1)	1														0.538462	45.151162	45.184507	14	12	KEEP	---	---	---	---	capture		Silent	SNP	35242075	35242075	16182	7	G	A	A	A	535	42	TBX20	2	2
AMPH	273	broad.mit.edu	37	7	38530670	38530670	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38530670C>A	uc003tgu.2	-	c.376G>T	c.(376-378)GGG>TGG	p.G126W	AMPH_uc003tgv.2_Missense_Mutation_p.G126W	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	126	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.057279	-38.259205	47.963646	24	395	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38530670	38530670	591	7	C	A	A	A	286	22	AMPH	2	2
GLI3	2737	broad.mit.edu	37	7	42005031	42005031	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42005031G>A	uc011kbh.1	-	c.3640C>T	c.(3640-3642)CAG>TAG	p.Q1214*	GLI3_uc011kbg.1_Nonsense_Mutation_p.Q1155*	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1214					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.147541	15.332762	22.611842	9	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42005031	42005031	6707	7	G	A	A	A	585	45	GLI3	5	2
HECW1	23072	broad.mit.edu	37	7	43506055	43506055	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43506055G>T	uc003tid.1	+	c.2801G>T	c.(2800-2802)AGA>ATA	p.R934I	HECW1_uc011kbi.1_Missense_Mutation_p.R900I	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	934					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.107527	7.683887	21.89414	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43506055	43506055	7325	7	G	T	T	T	429	33	HECW1	2	2
HGF	3082	broad.mit.edu	37	7	81346652	81346652	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81346652T>G	uc003uhl.2	-	c.1301A>C	c.(1300-1302)AAG>ACG	p.K434T	HGF_uc003uhm.2_Missense_Mutation_p.K429T	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	434	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.152174	25.98918	36.644451	14	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81346652	81346652	7369	7	T	G	G	G	728	56	HGF	4	4
PCLO	27445	broad.mit.edu	37	7	82784790	82784790	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82784790C>A	uc003uhx.2	-	c.1167G>T	c.(1165-1167)AAG>AAT	p.K389N	PCLO_uc003uhv.2_Missense_Mutation_p.K389N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	341	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.175824	29.840896	38.86159	16	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82784790	82784790	12003	7	C	A	A	A	311	24	PCLO	2	2
VPS13B	157680	broad.mit.edu	37	8	100160183	100160183	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:100160183C>T	uc003yiv.2	+	c.1958C>T	c.(1957-1959)TCC>TTC	p.S653F	VPS13B_uc003yiw.2_Missense_Mutation_p.S653F|VPS13B_uc003yit.2_Missense_Mutation_p.S653F|VPS13B_uc003yiu.1_Missense_Mutation_p.S653F|VPS13B_uc003yix.1_Missense_Mutation_p.S124F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	653					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			Colon(161;2205 2542 7338 31318)				1116				0.092784	12.195802	44.567164	18	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100160183	100160183	17757	8	C	T	T	T	390	30	VPS13B	2	2
DCAF13	25879	broad.mit.edu	37	8	104447974	104447974	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104447974C>T	uc003yln.2	+	c.1362C>T	c.(1360-1362)TTC>TTT	p.F454F	DCAF13_uc003ylm.1_Silent_p.F187F|DCAF13_uc003ylo.2_Silent_p.F165F	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	302	WD 6.				protein ubiquitination|rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1														0.237113	56.878767	63.003194	23	74	KEEP	---	---	---	---	capture		Silent	SNP	104447974	104447974	4437	8	C	T	T	T	402	31	DCAF13	1	1
PKHD1L1	93035	broad.mit.edu	37	8	110432879	110432879	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110432879G>T	uc003yne.2	+	c.2657G>T	c.(2656-2658)TGC>TTC	p.C886F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	886	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)											0.086124	5.880483	42.160913	18	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110432879	110432879	12397	8	G	T	T	T	598	46	PKHD1L1	2	2
CSMD3	114788	broad.mit.edu	37	8	114186138	114186138	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:114186138C>A	uc003ynu.2	-	c.522G>T	c.(520-522)CAG>CAT	p.Q174H	CSMD3_uc003ynt.2_Missense_Mutation_p.Q134H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q174H|CSMD3_uc010mcx.1_Missense_Mutation_p.Q174H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	174	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.392857	62.133772	62.697794	22	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114186138	114186138	4087	8	C	A	A	A	415	32	CSMD3	2	2
ANXA13	312	broad.mit.edu	37	8	124748110	124748110	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124748110G>C	uc003yqt.2	-	c.23C>G	c.(22-24)TCG>TGG	p.S8W	ANXA13_uc003yqu.2_Intron	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	annexin A13 isoform b	Error:Variant_position_missing_in_P27216_after_alignment					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)	2	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)											0.353659	94.554842	96.101369	29	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124748110	124748110	725	8	G	C	C	C	481	37	ANXA13	3	3
FER1L6	654463	broad.mit.edu	37	8	125076606	125076606	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125076606C>A	uc003yqw.2	+	c.3347C>A	c.(3346-3348)ACA>AAA	p.T1116K		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1116	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.452055	208.93093	209.223545	66	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125076606	125076606	6052	8	C	A	A	A	221	17	FER1L6	2	2
TG	7038	broad.mit.edu	37	8	133984967	133984967	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133984967C>T	uc003ytw.2	+	c.6180C>T	c.(6178-6180)TTC>TTT	p.F2060F	TG_uc010mdw.2_Silent_p.F819F|TG_uc011ljb.1_Silent_p.F429F|TG_uc011ljc.1_Silent_p.F214F	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2060	Type IIIB.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)					p.F2060F(SNU387-Tumor)	1778				0.078652	1.616993	33.893128	14	164	KEEP	---	---	---	---	capture		Silent	SNP	133984967	133984967	16341	8	C	T	T	T	402	31	TG	1	1
FLJ43860	389690	broad.mit.edu	37	8	142487923	142487923	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:142487923G>T	uc003ywi.2	-	c.1318C>A	c.(1318-1320)CAC>AAC	p.H440N	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	440							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)											0.366667	32.51633	32.985579	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142487923	142487923	6170	8	G	T	T	T	611	47	FLJ43860	2	2
CSMD1	64478	broad.mit.edu	37	8	2910077	2910077	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2910077C>T	uc011kwk.1	-	c.7570G>A	c.(7570-7572)GAG>AAG	p.E2524K	CSMD1_uc011kwj.1_Missense_Mutation_p.E1853K|CSMD1_uc010lrg.2_Missense_Mutation_p.E592K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2524	Extracellular (Potential).|Sushi 15.					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)										0.081081	-0.205721	6.412168	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2910077	2910077	4085	8	C	T	T	T	377	29	CSMD1	2	2
SNTG1	54212	broad.mit.edu	37	8	51415442	51415442	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51415442T>A	uc010lxy.1	+	c.466_splice	c.e10+2	p.C156_splice	SNTG1_uc003xqs.1_Splice_Site_SNP_p.C156_splice|SNTG1_uc010lxz.1_Splice_Site_SNP_p.C156_splice|SNTG1_uc011ldl.1_Splice_Site_SNP	NM_018967	NP_061840			syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.15	11.125548	15.821383	6	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	51415442	51415442	15374	8	T	A	A	A	741	57	SNTG1	5	3
PXDNL	137902	broad.mit.edu	37	8	52232477	52232477	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52232477G>T	uc003xqu.3	-	c.4366C>A	c.(4366-4368)CCA>ACA	p.P1456T	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1456					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)												0.105263	3.970473	9.856771	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52232477	52232477	13306	8	G	T	T	T	546	42	PXDNL	2	2
PXDNL	137902	broad.mit.edu	37	8	52232546	52232546	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52232546G>C	uc003xqu.3	-	c.4297C>G	c.(4297-4299)CCG>GCG	p.P1433A	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1433	VWFC.				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)												0.266667	20.69597	22.165659	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52232546	52232546	13306	8	G	C	C	C	559	43	PXDNL	3	3
ZNF462	58499	broad.mit.edu	37	9	109691365	109691365	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:109691365G>T	uc004bcz.2	+	c.5172G>T	c.(5170-5172)GCG>GCT	p.A1724A	ZNF462_uc010mto.2_Silent_p.A1572A|ZNF462_uc004bda.2_Silent_p.A1572A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1724					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.261538	47.754185	51.092955	17	48	KEEP	---	---	---	---	capture		Silent	SNP	109691365	109691365	18519	9	G	T	T	T	509	40	ZNF462	1	1
OR2K2	26248	broad.mit.edu	37	9	114090037	114090037	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114090037C>G	uc011lwp.1	-	c.677G>C	c.(676-678)AGA>ACA	p.R226T		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	255	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.060976	-4.295834	12.210058	5	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114090037	114090037	11411	9	C	G	G	G	416	32	OR2K2	3	3
ZFP37	7539	broad.mit.edu	37	9	115805895	115805895	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115805895G>T	uc011lwz.1	-	c.1048C>A	c.(1048-1050)CAC>AAC	p.H350N	ZFP37_uc004bgm.1_Missense_Mutation_p.H335N|ZFP37_uc011lxa.1_Missense_Mutation_p.H336N	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	335	C2H2-type 2.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.09434	6.665196	24.194742	10	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115805895	115805895	18236	9	G	T	T	T	624	48	ZFP37	2	2
TLR4	7099	broad.mit.edu	37	9	120474768	120474768	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120474768C>A	uc004bjz.2	+	c.362C>A	c.(361-363)GCC>GAC	p.A121D	TLR4_uc004bka.2_Missense_Mutation_p.A81D|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	121	LRR 3.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.19403	26.33151	32.188793	13	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120474768	120474768	16483	9	C	A	A	A	338	26	TLR4	2	2
MAN1B1	11253	broad.mit.edu	37	9	139982623	139982623	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139982623G>T	uc004cld.2	+	c.316G>T	c.(316-318)GAC>TAC	p.D106Y	MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.D106Y|MAN1B1_uc010ncc.2_Non-coding_Transcript|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	106	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)										0.210526	9.48889	10.962127	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139982623	139982623	9595	9	G	T	T	T	585	45	MAN1B1	2	2
TMEM215	401498	broad.mit.edu	37	9	32784860	32784860	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32784860G>T	uc003zri.3	+	c.679G>T	c.(679-681)GGC>TGC	p.G227C		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	227						integral to membrane					0														0.164835	27.869225	37.573096	15	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32784860	32784860	16674	9	G	T	T	T	455	35	TMEM215	2	2
TPM2	7169	broad.mit.edu	37	9	35685710	35685710	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35685710T>A	uc003zxr.2	-	c.308A>T	c.(307-309)CAG>CTG	p.Q103L	TPM2_uc003zxq.2_Missense_Mutation_p.Q103L|TPM2_uc003zxs.2_Missense_Mutation_p.Q103L|TPM2_uc010mkz.2_Missense_Mutation_p.Q103L|TPM2_uc011lpa.1_Missense_Mutation_p.Q103L	NM_003289	NP_003280	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 1	103	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)											0.181818	17.378162	21.559536	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35685710	35685710	16950	9	T	A	A	A	715	55	TPM2	3	3
FRMPD1	22844	broad.mit.edu	37	9	37745597	37745597	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37745597G>T	uc004aag.1	+	c.3568G>T	c.(3568-3570)GGG>TGG	p.G1190W	FRMPD1_uc004aah.1_Missense_Mutation_p.G1190W	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1190						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.215385	30.603045	35.476769	14	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37745597	37745597	6307	9	G	T	T	T	455	35	FRMPD1	2	2
TMEM2	23670	broad.mit.edu	37	9	74347398	74347398	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74347398C>A	uc011lsa.1	-	c.1432G>T	c.(1432-1434)GGT>TGT	p.G478C	TMEM2_uc010mos.2_Missense_Mutation_p.G415C|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	478						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)										0.181818	28.36637	34.63815	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74347398	74347398	16656	9	C	A	A	A	299	23	TMEM2	1	1
C9orf79	286234	broad.mit.edu	37	9	90500661	90500661	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90500661A>G	uc004app.3	+	c.1259A>G	c.(1258-1260)CAG>CGG	p.Q420R	C9orf79_uc004apo.1_Missense_Mutation_p.Q232R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	420						integral to membrane				ovary(3)	3														0.181034	37.198647	48.300126	21	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90500661	90500661	2613	9	A	G	G	G	91	7	C9orf79	4	4
COL4A6	1288	broad.mit.edu	37	X	107419023	107419023	+	Silent	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107419023C>T	uc004enw.3	-	c.2694G>A	c.(2692-2694)GAG>GAA	p.E898E	COL4A6_uc004env.3_Silent_p.E897E|COL4A6_uc011msn.1_Silent_p.E897E|COL4A6_uc010npk.2_Silent_p.E897E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	898	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.12	7.911236	14.999318	6	44	KEEP	---	---	---	---	capture		Silent	SNP	107419023	107419023	3833	23	C	T	T	T	415	32	COL4A6	2	2
ANKRD58	347454	broad.mit.edu	37	X	118893528	118893528	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118893528C>T	uc010nql.2	+	c.898C>T	c.(898-900)CAA>TAA	p.Q300*		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	ankyrin repeat domain 58	300											0														0.3125	12.486326	12.977991	5	11	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118893528	118893528	692	23	C	T	T	T	325	25	ANKRD58	5	2
ARHGAP36	158763	broad.mit.edu	37	X	130222687	130222687	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130222687G>T	uc004evz.2	+	c.1572G>T	c.(1570-1572)GAG>GAT	p.E524D	ARHGAP36_uc004ewa.2_Missense_Mutation_p.E512D|ARHGAP36_uc004ewb.2_Missense_Mutation_p.E493D|ARHGAP36_uc004ewc.2_Missense_Mutation_p.E388D	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	524					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.261538	40.842212	44.190407	17	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130222687	130222687	895	23	G	T	T	T	438	34	ARHGAP36	2	2
GPR101	83550	broad.mit.edu	37	X	136112735	136112735	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:136112735C>T	uc011mwh.1	-	c.1099G>A	c.(1099-1101)GTC>ATC	p.V367I		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	367	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)	4	Acute lymphoblastic leukemia(192;0.000127)													0.060606	-13.385786	19.908289	10	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136112735	136112735	6896	23	C	T	T	T	247	19	GPR101	1	1
MAGEC3	139081	broad.mit.edu	37	X	140985462	140985462	+	Silent	SNP	A	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140985462A>G	uc011mwp.1	+	c.1776A>G	c.(1774-1776)CTA>CTG	p.L592L	MAGEC3_uc004fbs.2_Missense_Mutation_p.I342V|MAGEC3_uc010nsj.2_Missense_Mutation_p.I342V	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	592	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.032787	-30.104209	13.500905	6	177	KEEP	---	---	---	---	capture		Silent	SNP	140985462	140985462	9563	23	A	G	G	G	208	16	MAGEC3	4	4
MAGEC1	9947	broad.mit.edu	37	X	140993694	140993694	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140993694C>G	uc004fbt.2	+	c.504C>G	c.(502-504)AGC>AGG	p.S168R	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	168							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.147482	77.924579	111.088806	41	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140993694	140993694	9561	23	C	G	G	G	350	27	MAGEC1	3	3
SLITRK4	139065	broad.mit.edu	37	X	142717232	142717232	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142717232G>T	uc004fbx.2	-	c.1693C>A	c.(1693-1695)CAG>AAG	p.Q565K	SLITRK4_uc004fby.2_Missense_Mutation_p.Q565K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	565	Extracellular (Potential).|LRRCT 2.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.12381	16.296761	30.833584	13	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142717232	142717232	15243	23	G	T	T	T	585	45	SLITRK4	2	2
MAGEA11	4110	broad.mit.edu	37	X	148798327	148798327	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148798327C>G	uc004fdq.2	+	c.1181C>G	c.(1180-1182)ACC>AGC	p.T394S	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.T365S	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	394	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.122066	41.299114	71.093129	26	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148798327	148798327	9542	23	C	G	G	G	234	18	MAGEA11	3	3
MAGEA6	4105	broad.mit.edu	37	X	151869755	151869755	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151869755G>A	uc004ffq.1	+	c.445G>A	c.(445-447)GTG>ATG	p.V149M	MAGEA6_uc004ffr.1_Missense_Mutation_p.V149M|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	149	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)													0.133333	12.831623	24.592469	12	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151869755	151869755	9549	23	G	A	A	A	624	48	MAGEA6	2	2
ZNF275	10838	broad.mit.edu	37	X	152613062	152613062	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152613062G>C	uc011mym.1	+	c.919G>C	c.(919-921)GAG>CAG	p.E307Q	ZNF275_uc004fhg.1_Missense_Mutation_p.E307Q|ZNF275_uc011myn.1_Missense_Mutation_p.E244Q	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	307										ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.122222	17.362559	29.939503	11	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152613062	152613062	18402	23	G	C	C	C	533	41	ZNF275	3	3
PNCK	139728	broad.mit.edu	37	X	152937077	152937077	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152937077G>T	uc011myu.1	-	c.714C>A	c.(712-714)GTC>GTA	p.V238V	PNCK_uc011myt.1_Silent_p.V172V|PNCK_uc004fia.2_Silent_p.V167V|PNCK_uc004fhz.3_Silent_p.V53V|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Silent_p.V182V|PNCK_uc011myw.1_Silent_p.V182V	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	155	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)									91				0.141509	20.746386	33.897934	15	91	KEEP	---	---	---	---	capture		Silent	SNP	152937077	152937077	12571	23	G	T	T	T	418	33	PNCK	2	2
ARSH	347527	broad.mit.edu	37	X	2951228	2951228	+	Silent	SNP	T	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2951228T>A	uc011mhj.1	+	c.1491T>A	c.(1489-1491)CCT>CCA	p.P497P		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	497						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)												0.153846	15.767225	21.723337	8	44	KEEP	---	---	---	---	capture		Silent	SNP	2951228	2951228	1011	23	T	A	A	A	704	55	ARSH	3	3
SYTL5	94122	broad.mit.edu	37	X	37985883	37985883	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37985883G>T	uc004ddx.2	+	c.2159G>T	c.(2158-2160)GGG>GTG	p.G720V	SYTL5_uc004ddu.2_Missense_Mutation_p.G698V|SYTL5_uc004ddv.2_Missense_Mutation_p.G698V	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 2	698					intracellular protein transport	membrane	Rab GTPase binding|zinc ion binding				0														0.222222	29.186294	33.008594	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37985883	37985883	16007	23	G	T	T	T	559	43	SYTL5	2	2
ZNF182	7569	broad.mit.edu	37	X	47835972	47835972	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47835972T>C	uc004dir.2	-	c.1514A>G	c.(1513-1515)CAA>CGA	p.Q505R	ZNF182_uc004dis.2_Missense_Mutation_p.Q486R|ZNF182_uc004dit.2_Missense_Mutation_p.Q505R|ZNF182_uc011mlu.1_Missense_Mutation_p.Q485R	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	505	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.184211	14.901761	18.457443	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47835972	47835972	18341	23	T	C	C	C	819	63	ZNF182	4	4
CLCN5	1184	broad.mit.edu	37	X	49853406	49853406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49853406C>T	uc004dor.1	+	c.1609C>T	c.(1609-1611)CGA>TGA	p.R537*	CLCN5_uc004doq.1_Nonsense_Mutation_p.R537*|CLCN5_uc004dos.1_Nonsense_Mutation_p.R467*|CLCN5_uc004dot.1_Nonsense_Mutation_p.R467*	NM_001127899	NP_001121371	P51795	CLCN5_HUMAN	chloride channel 5 isoform a	467	Helical; (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)													0.247573	129.033485	140.971725	51	155	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49853406	49853406	3602	23	C	T	T	T	399	31	CLCN5	5	1
CCNB3	85417	broad.mit.edu	37	X	50052412	50052412	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50052412A>T	uc004dox.3	+	c.1243A>T	c.(1243-1245)ATG>TTG	p.M415L	CCNB3_uc004doy.2_Missense_Mutation_p.M415L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	415					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.302083	85.843253	89.19772	29	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50052412	50052412	3041	23	A	T	T	T	208	16	CCNB3	3	3
DGKK	139189	broad.mit.edu	37	X	50121187	50121187	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50121187G>T	uc010njr.1	-	c.3020C>A	c.(3019-3021)CCA>CAA	p.P1007Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	1007					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)													0.065574	-3.34866	8.600565	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50121187	50121187	4651	23	G	T	T	T	611	47	DGKK	2	2
ITIH5L	347365	broad.mit.edu	37	X	54783871	54783871	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54783871G>T	uc004dtj.2	-	c.2636C>A	c.(2635-2637)CCC>CAC	p.P879H		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	879	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5										249				0.158228	44.069033	61.670404	25	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54783871	54783871	8212	23	G	T	T	T	559	43	ITIH5L	2	2
TRO	7216	broad.mit.edu	37	X	54956057	54956057	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54956057C>A	uc004dtq.2	+	c.2900C>A	c.(2899-2901)GCT>GAT	p.A967D	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.A498D|TRO_uc004dtw.2_Missense_Mutation_p.A570D|TRO_uc004dtx.2_Missense_Mutation_p.A350D	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	967	16.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1														0.447368	51.268677	51.360595	17	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54956057	54956057	17125	23	C	A	A	A	364	28	TRO	2	2
APEX2	27301	broad.mit.edu	37	X	55028735	55028735	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:55028735G>T	uc004dtz.2	+	c.293G>T	c.(292-294)GGC>GTC	p.G98V	APEX2_uc011mom.1_Intron	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	98					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding				0														0.470588	22.894795	22.907846	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55028735	55028735	780	23	G	T	T	T	546	42	APEX2	2	2
SHOX	6473	broad.mit.edu	37	X	591680	591680	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:591680C>A	uc004cph.1	+	c.48C>A	c.(46-48)AGC>AGA	p.S16R	SHOX_uc004cpi.2_Missense_Mutation_p.S16R	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	16					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		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)				Ovarian(95;18 1419 12424 14056 28266)								0.272727	7.819686	8.332107	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	591680	591680	14783	23	C	A	A	A	324	25	SHOX	2	2
ARHGEF9	23229	broad.mit.edu	37	X	62875606	62875607	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:62875606_62875607CC>AA	uc004dvl.2	-	c.1067_1068GG>TT	c.(1066-1068)CGG>CTT	p.R356L	ARHGEF9_uc004dvj.1_Missense_Mutation_p.R245L|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R174L|ARHGEF9_uc011mos.1_Missense_Mutation_p.R335L|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R335L|ARHGEF9_uc011mot.1_Missense_Mutation_p.R303L|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R363L	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	356	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8														0.222222	128.923416	146.170645	54	189	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	62875606	62875607	927	23	CC	AA	AA	AA	379	30	ARHGEF9	2	2
FAM123B	139285	broad.mit.edu	37	X	63410856	63410856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63410856G>A	uc004dvo.2	-	c.2311C>T	c.(2311-2313)CAG>TAG	p.Q771*		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	771					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.169811	16.939618	22.409814	9	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	63410856	63410856	5620	23	G	A	A	A	624	48	FAM123B	5	2
ZC3H12B	340554	broad.mit.edu	37	X	64722395	64722395	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:64722395C>T	uc010nko.2	+	c.1784C>T	c.(1783-1785)GCT>GTT	p.A595V		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	595							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3														0.138298	20.708471	32.601298	13	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64722395	64722395	18150	23	C	T	T	T	364	28	ZC3H12B	2	2
HEPH	9843	broad.mit.edu	37	X	65409583	65409583	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65409583G>A	uc011moz.1	+	c.875G>A	c.(874-876)CGT>CAT	p.R292H	HEPH_uc004dwn.2_Missense_Mutation_p.R292H|HEPH_uc004dwo.2_Missense_Mutation_p.R22H|HEPH_uc010nkr.2_Missense_Mutation_p.R292H|HEPH_uc011mpa.1_Missense_Mutation_p.R292H	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	289	Extracellular (Potential).|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.27	70.279756	75.052871	27	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65409583	65409583	7337	23	G	A	A	A	520	40	HEPH	1	1
HEPH	9843	broad.mit.edu	37	X	65427133	65427133	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65427133C>A	uc011moz.1	+	c.2397C>A	c.(2395-2397)ATC>ATA	p.I799I	HEPH_uc004dwn.2_Silent_p.I799I|HEPH_uc004dwo.2_Silent_p.I529I|HEPH_uc010nkr.2_Silent_p.I607I|HEPH_uc011mpa.1_Silent_p.I799I|HEPH_uc010nks.2_Silent_p.I88I	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	796	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.1875	16.867232	21.243203	9	39	KEEP	---	---	---	---	capture		Silent	SNP	65427133	65427133	7337	23	C	A	A	A	382	30	HEPH	2	2
HEPH	9843	broad.mit.edu	37	X	65427991	65427991	+	Silent	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65427991G>T	uc011moz.1	+	c.2475G>T	c.(2473-2475)CTG>CTT	p.L825L	HEPH_uc004dwn.2_Silent_p.L825L|HEPH_uc004dwo.2_Silent_p.L555L|HEPH_uc010nkr.2_Silent_p.L633L|HEPH_uc011mpa.1_Silent_p.L825L|HEPH_uc010nks.2_Silent_p.L114L	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	822	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.243243	22.355273	24.579704	9	28	KEEP	---	---	---	---	capture		Silent	SNP	65427991	65427991	7337	23	G	T	T	T	574	45	HEPH	2	2
SLC7A3	84889	broad.mit.edu	37	X	70146528	70146528	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70146528G>T	uc004dyn.2	-	c.1469C>A	c.(1468-1470)GCT>GAT	p.A490D	SLC7A3_uc004dyo.2_Missense_Mutation_p.A490D	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	490	Helical; Name=11; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.266667	8.988944	9.730405	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70146528	70146528	15195	23	G	T	T	T	442	34	SLC7A3	2	2
FAM46D	169966	broad.mit.edu	37	X	79698584	79698584	+	Silent	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79698584C>A	uc004edl.1	+	c.546C>A	c.(544-546)CCC>CCA	p.P182P	FAM46D_uc004edm.1_Silent_p.P182P	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	182										lung(2)	2														0.27551	73.981	78.428895	27	71	KEEP	---	---	---	---	capture		Silent	SNP	79698584	79698584	5789	23	C	A	A	A	262	21	FAM46D	2	2
ZNF711	7552	broad.mit.edu	37	X	84526199	84526199	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84526199C>A	uc004eeq.2	+	c.1789C>A	c.(1789-1791)CAC>AAC	p.H597N	ZNF711_uc004eeo.2_Missense_Mutation_p.H551N|ZNF711_uc004eep.2_Missense_Mutation_p.H551N|ZNF711_uc011mqy.1_Missense_Mutation_p.H150N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	551	C2H2-type 5.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.171429	12.626967	16.199673	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84526199	84526199	18712	23	C	A	A	A	377	29	ZNF711	2	2
PCDH11X	27328	broad.mit.edu	37	X	91134184	91134184	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91134184C>A	uc004efk.1	+	c.2945C>A	c.(2944-2946)TCC>TAC	p.S982Y	PCDH11X_uc004efl.1_Missense_Mutation_p.S982Y|PCDH11X_uc004efo.1_Missense_Mutation_p.S982Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.S982Y|PCDH11X_uc004efm.1_Missense_Mutation_p.S982Y|PCDH11X_uc004efn.1_Missense_Mutation_p.S982Y|PCDH11X_uc004efh.1_Missense_Mutation_p.S982Y|PCDH11X_uc004efj.1_Missense_Mutation_p.S982Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	982	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.382979	143.647082	145.362021	54	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91134184	91134184	11928	23	C	A	A	A	390	30	PCDH11X	2	2
EPS8L2	64787	broad.mit.edu	37	11	723304	723305	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:723304_723305insC	uc010qwk.1	+	c.1453_1454insC	c.(1453-1455)ACCfs	p.T485fs	EPS8L2_uc001lqt.2_Frame_Shift_Ins_p.T469fs|EPS8L2_uc001lqu.2_Frame_Shift_Ins_p.T469fs|EPS8L2_uc001lqv.2_Frame_Shift_Ins_p.T424fs|EPS8L2_uc001lqw.2_Frame_Shift_Ins_p.T81fs|EPS8L2_uc001lqx.2_Frame_Shift_Ins_p.T81fs|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	469						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)								OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.33			4	8		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	723304	723305	5389	11	-	C	C	C	78	6	EPS8L2	5	5
CD163	9332	broad.mit.edu	37	12	7640520	7640521	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7640520_7640521insA	uc001qsz.3	-	c.1583_1584insT	c.(1582-1584)CTGfs	p.L528fs	CD163_uc001qta.3_Frame_Shift_Ins_p.L528fs|CD163_uc009zfw.2_Frame_Shift_Ins_p.L528fs	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	528	SRCR 5.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8														0.31			24	53		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	7640520	7640521	3094	12	-	A	A	A	262	21	CD163	5	5
ABCA4	24	broad.mit.edu	37	1	94495002	94495003	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94495002_94495003insG	uc001dqh.2	-	c.4537_4538insC	c.(4537-4539)CAGfs	p.Q1513fs		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1513	Extracellular.		Q -> R (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)										0.33			3	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	94495002	94495003	35	1	-	G	G	G	715	55	ABCA4	5	5
ZAN	7455	broad.mit.edu	37	7	100371476	100371477	+	Splice_Site_Ins	INS	-	G	G			TCGA-17-Z010-01	TCGA-17-Z010-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100371476_100371477insG	uc003uwj.2	+	c.5766_splice	c.e31+1	p.R1922_splice	ZAN_uc003uwk.2_Splice_Site_Ins_p.R1922_splice|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Frame_Shift_Ins_p.F10fs	NM_003386	NP_003377			zonadhesin isoform 3						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.38			3	5		---	---	---	---	capture_indel		Splice_Site_Ins	INS	100371476	100371477	18096	7	-	G	G	G	832	64	ZAN	5	5
