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
MGEA5	10724	broad.mit.edu	37	10	103560073	103560073	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103560073T>C	uc001ktv.2	-	c.1121A>G	c.(1120-1122)TAT>TGT	p.Y374C	MGEA5_uc001ktu.2_5'Flank|MGEA5_uc010qqe.1_Intron|MGEA5_uc009xws.2_Intron|MGEA5_uc001ktw.2_Missense_Mutation_p.Y374C|MGEA5_uc009xwt.2_Missense_Mutation_p.Y137C	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	374					glycoprotein catabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)	2		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)										0.274882	193.877406	203.49472	58	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103560073	103560073	9945	10	T	C	C	C	637	49	MGEA5	4	4
CALY	50632	broad.mit.edu	37	10	135140380	135140380	+	Splice_Site_SNP	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135140380A>G	uc001lmo.2	-	c.360_splice	c.e4+1	p.R120_splice		NM_015722	NP_056537			dopamine receptor D1 interacting protein						clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)									0.25	12.395319	13.302146	4	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	135140380	135140380	2712	10	A	G	G	G	182	14	CALY	5	4
SLC39A12	221074	broad.mit.edu	37	10	18254567	18254567	+	Silent	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18254567T>C	uc001ipo.2	+	c.699T>C	c.(697-699)TTT>TTC	p.F233F	SLC39A12_uc001ipn.2_Silent_p.F233F|SLC39A12_uc001ipp.2_Silent_p.F233F|SLC39A12_uc010qck.1_Silent_p.F99F	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	233	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.25	113.294982	121.012954	34	102	KEEP	---	---	---	---	capture		Silent	SNP	18254567	18254567	15112	10	T	C	C	C	790	61	SLC39A12	4	4
ZMYND11	10771	broad.mit.edu	37	10	225956	225956	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:225956G>A	uc010pzt.1	+	c.4G>A	c.(4-6)GCA>ACA	p.A2T	ZMYND11_uc001ifk.2_Missense_Mutation_p.A2T|ZMYND11_uc010pzu.1_Missense_Mutation_p.A2T|ZMYND11_uc010pzv.1_Missense_Mutation_p.A2T|ZMYND11_uc010pzw.1_Missense_Mutation_p.A2T|ZMYND11_uc001ifm.2_Missense_Mutation_p.A2T|ZMYND11_uc010pzx.1_Missense_Mutation_p.A2T|ZMYND11_uc001ifn.2_Missense_Mutation_p.A2T|ZMYND11_uc009xhg.2_5'UTR	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	Error:Variant_position_missing_in_Q15326_after_alignment					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)										0.54	86.727178	86.796528	27	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	225956	225956	18297	10	G	A	A	A	546	42	ZMYND11	2	2
THNSL1	79896	broad.mit.edu	37	10	25313947	25313947	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25313947C>T	uc001isi.3	+	c.1795C>T	c.(1795-1797)CAT>TAT	p.H599Y	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	599					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)									0.093168	5.898603	32.708281	15	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25313947	25313947	16390	10	C	T	T	T	377	29	THNSL1	2	2
ZNF239	8187	broad.mit.edu	37	10	44052539	44052539	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:44052539T>C	uc001jaw.3	-	c.989A>G	c.(988-990)CAG>CGG	p.Q330R	ZNF239_uc001jax.3_Missense_Mutation_p.Q330R|ZNF239_uc009xmj.2_Missense_Mutation_p.Q330R|ZNF239_uc009xmk.2_Missense_Mutation_p.Q330R	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	330	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0														0.336634	107.818696	110.203235	34	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44052539	44052539	18382	10	T	C	C	C	715	55	ZNF239	4	4
RBP3	5949	broad.mit.edu	37	10	48389941	48389941	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48389941G>A	uc001jez.2	-	c.937C>T	c.(937-939)CTG>TTG	p.L313L		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	313	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.271186	45.074479	47.859595	16	43	KEEP	---	---	---	---	capture		Silent	SNP	48389941	48389941	13626	10	G	A	A	A	451	35	RBP3	2	2
UBE2D1	7321	broad.mit.edu	37	10	60124575	60124575	+	Silent	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:60124575T>C	uc001jke.1	+	c.243T>C	c.(241-243)AAT>AAC	p.N81N		NM_003338	NP_003329	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|post-translational protein modification|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity				0														0.547619	84.330961	84.414073	23	19	KEEP	---	---	---	---	capture		Silent	SNP	60124575	60124575	17405	10	T	C	C	C	660	51	UBE2D1	4	4
SUPV3L1	6832	broad.mit.edu	37	10	70951419	70951419	+	Silent	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70951419A>T	uc001jpe.1	+	c.750A>T	c.(748-750)CCA>CCT	p.P250P	SUPV3L1_uc010qjd.1_Silent_p.P119P	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	250	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2														0.211538	26.59757	30.597383	11	41	KEEP	---	---	---	---	capture		Silent	SNP	70951419	70951419	15922	10	A	T	T	T	93	8	SUPV3L1	3	3
GATA3	2625	broad.mit.edu	37	10	8115980	8115980	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8115980G>T	uc001ijz.2	+	c.1329G>T	c.(1327-1329)ATG>ATT	p.M443I	GATA3_uc001ika.2_Missense_Mutation_p.M442I	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 1	442					blood coagulation|cell fate determination|defense response|mesonephros development|negative regulation of cell proliferation|nephric duct formation|norepinephrine biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interleukin-4 production|regulation of cytokine biosynthetic process|response to estrogen stimulus|signal transduction|sympathetic nervous system development|transcription from RNA polymerase II promoter|ureteric bud formation	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(2)|central_nervous_system(2)	21														0.085526	1.453412	27.93615	13	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8115980	8115980	6519	10	G	T	T	T	611	47	GATA3	2	2
NPAT	4863	broad.mit.edu	37	11	108043482	108043482	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108043482G>A	uc001pjz.3	-	c.2229C>T	c.(2227-2229)ATC>ATT	p.I743I	NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Silent_p.I538I	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	743					regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)						345				0.356643	140.872091	143.46634	51	92	KEEP	---	---	---	---	capture		Silent	SNP	108043482	108043482	10970	11	G	A	A	A	577	45	NPAT	2	2
ARHGEF12	23365	broad.mit.edu	37	11	120352136	120352136	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120352136C>A	uc001pxl.1	+	c.4405C>A	c.(4405-4407)CCA>ACA	p.P1469T	ARHGEF12_uc009zau.1_Missense_Mutation_p.P1366T	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1469					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)						1000				0.175573	47.941241	60.945255	23	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120352136	120352136	911	11	C	A	A	A	234	18	ARHGEF12	2	2
OR10S1	219873	broad.mit.edu	37	11	123847563	123847563	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123847563C>A	uc001pzm.1	-	c.836G>T	c.(835-837)AGT>ATT	p.S279I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	279	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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;0.0399)										0.108475	30.273908	75.100727	32	263	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123847563	123847563	11324	11	C	A	A	A	260	20	OR10S1	2	2
FLI1	2313	broad.mit.edu	37	11	128680825	128680825	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128680825C>G	uc010sbu.1	+	c.1301C>G	c.(1300-1302)CCC>CGC	p.P434R	FLI1_uc010sbt.1_Missense_Mutation_p.P241R|FLI1_uc010sbv.1_Missense_Mutation_p.P401R|FLI1_uc009zci.2_Missense_Mutation_p.P368R	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	434					hemostasis|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2262)	bone(2208)|soft_tissue(46)|autonomic_ganglia(4)|central_nervous_system(4)|ovary(2)|pancreas(2)|lung(1)	2267	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)						400				0.36	130.539885	132.69698	45	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128680825	128680825	6162	11	C	G	G	G	286	22	FLI1	3	3
OPCML	4978	broad.mit.edu	37	11	132307139	132307139	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132307139C>G	uc010sck.1	-	c.641G>C	c.(640-642)CGG>CCG	p.R214P	OPCML_uc001qgu.2_Missense_Mutation_p.R207P|OPCML_uc001qgs.2_Missense_Mutation_p.R214P|OPCML_uc001qgt.2_Missense_Mutation_p.R213P|OPCML_uc010scl.1_Missense_Mutation_p.R173P	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	214	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)	2	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)										0.37931	169.686308	171.540081	55	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132307139	132307139	11280	11	C	G	G	G	299	23	OPCML	3	3
IGSF9B	22997	broad.mit.edu	37	11	133789866	133789866	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:133789866T>C	uc001qgx.3	-	c.3754A>G	c.(3754-3756)ACG>GCG	p.T1252A		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1252	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)										0.269231	41.041592	43.53122	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133789866	133789866	7907	11	T	C	C	C	741	57	IGSF9B	4	4
NLRP6	171389	broad.mit.edu	37	11	280839	280839	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:280839G>C	uc010qvs.1	+	c.1105G>C	c.(1105-1107)GAG>CAG	p.E369Q	NLRP6_uc010qvt.1_Missense_Mutation_p.E369Q	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	369	NACHT.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)						236				0.208589	80.777595	93.587548	34	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	280839	280839	10884	11	G	C	C	C	481	37	NLRP6	3	3
OR51E2	81285	broad.mit.edu	37	11	4703243	4703243	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4703243C>A	uc001lzk.2	-	c.699G>T	c.(697-699)CGG>CGT	p.R233R		NM_030774	NP_110401	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.21875	47.518842	54.520353	21	75	KEEP	---	---	---	---	capture		Silent	SNP	4703243	4703243	11505	11	C	A	A	A	275	22	OR51E2	2	2
OR4C12	283093	broad.mit.edu	37	11	50003265	50003265	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:50003265C>T	uc010ria.1	-	c.773G>A	c.(772-774)CGC>CAC	p.R258H		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.155556	22.888095	33.091227	14	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50003265	50003265	11452	11	C	T	T	T	351	27	OR4C12	1	1
RNH1	6050	broad.mit.edu	37	11	500626	500626	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:500626G>T	uc001lpk.1	-	c.130C>A	c.(130-132)CGG>AGG	p.R44R	RNH1_uc001lpl.1_Silent_p.R44R|RNH1_uc001lpm.1_Silent_p.R44R|RNH1_uc001lpn.1_Silent_p.R44R|RNH1_uc001lpo.1_Silent_p.R44R|RNH1_uc009ybw.1_Non-coding_Transcript|RNH1_uc001lpp.1_Silent_p.R44R|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Silent_p.R44R|RNH1_uc001lpr.1_Silent_p.R44R|RNH1_uc001lps.1_Silent_p.R44R|RNH1_uc009ybx.1_Silent_p.R44R	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	44	LRR 1.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.142857	19.782928	29.238999	11	66	KEEP	---	---	---	---	capture		Silent	SNP	500626	500626	13983	11	G	T	T	T	519	40	RNH1	1	1
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:533874T>A	uc001lpv.2	-	c.182A>T	c.(181-183)CAG>CTG	p.Q61L	HRAS_uc010qvw.1_Missense_Mutation_p.Q61L|HRAS_uc010qvx.1_Missense_Mutation_p.Q61L|HRAS_uc010qvy.1_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	61	GTP.		Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).	Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines.	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(109)|p.Q61L(87)|p.Q61P(3)		urinary_tract(167)|thyroid(153)|skin(126)|upper_aerodigestive_tract(107)|soft_tissue(34)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	732		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)		Q61L(KNS62_LUNG)|Q61L(NCIH1915_LUNG)|Q61L(KYSE30_OESOPHAGUS)	6	p.Q61L(NCIH1915-Tumor)|p.Q61L(KYSE30-Tumor)|p.Q61L(KNS62-Tumor)|p.Q61L(CJM-Tumor)	134				0.390625	219.874893	221.888565	75	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	533874	533874	7640	11	T	A	A	A	715	55	HRAS	3	3
OR4C15	81309	broad.mit.edu	37	11	55321872	55321872	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55321872G>C	uc010rig.1	+	c.90G>C	c.(88-90)AAG>AAC	p.K30N		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	Error:Variant_position_missing_in_Q8NGM1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.365169	223.026652	225.873405	65	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55321872	55321872	11454	11	G	C	C	C	438	34	OR4C15	3	3
OR5D14	219436	broad.mit.edu	37	11	55563657	55563657	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563657A>T	uc010rim.1	+	c.626A>T	c.(625-627)GAG>GTG	p.E209V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.343612	221.377091	226.283028	78	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55563657	55563657	11565	11	A	T	T	T	143	11	OR5D14	3	3
OR5T1	390155	broad.mit.edu	37	11	56043831	56043831	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56043831G>T	uc001nio.1	+	c.717G>T	c.(715-717)AAG>AAT	p.K239N		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)													0.314286	225.670295	234.279731	88	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56043831	56043831	11591	11	G	T	T	T	425	33	OR5T1	2	2
OR10Q1	219960	broad.mit.edu	37	11	57996185	57996185	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57996185T>G	uc010rkd.1	-	c.163A>C	c.(163-165)ACA>CCA	p.T55P		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.349315	165.915024	168.824695	51	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57996185	57996185	11322	11	T	G	G	G	767	59	OR10Q1	4	4
MS4A12	54860	broad.mit.edu	37	11	60268654	60268654	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60268654C>A	uc001npr.2	+	c.413C>A	c.(412-414)TCT>TAT	p.S138Y		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	138	Helical; (Potential).					integral to membrane	receptor activity				0														0.216561	73.748576	85.39996	34	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60268654	60268654	10249	11	C	A	A	A	416	32	MS4A12	2	2
KDM2A	22992	broad.mit.edu	37	11	67021866	67021866	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67021866C>G	uc001ojw.2	+	c.3284C>G	c.(3283-3285)TCT>TGT	p.S1095C	KDM2A_uc001ojx.2_Non-coding_Transcript|KDM2A_uc001ojy.2_Missense_Mutation_p.S789C|KDM2A_uc001ojz.1_Missense_Mutation_p.S553C|KDM2A_uc001oka.2_Missense_Mutation_p.S219C	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1095	LRR 4.				oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(3)|skin(1)	4														0.129213	41.12812	64.930639	23	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67021866	67021866	8430	11	C	G	G	G	416	32	KDM2A	3	3
ANKRD13D	338692	broad.mit.edu	37	11	67058967	67058967	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67058967G>C	uc001okd.1	+	c.372G>C	c.(370-372)GAG>GAC	p.E124D	ANKRD13D_uc001okc.1_Missense_Mutation_p.E37D|ANKRD13D_uc001oke.1_Missense_Mutation_p.E37D	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	37										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)											0.153846	44.471914	57.874935	18	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67058967	67058967	647	11	G	C	C	C	425	33	ANKRD13D	3	3
OR10A2	341276	broad.mit.edu	37	11	6891431	6891431	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6891431G>T	uc001meu.1	+	c.446G>T	c.(445-447)TGG>TTG	p.W149L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	149	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)										0.328638	195.202007	200.735111	70	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6891431	6891431	11296	11	G	T	T	T	611	47	OR10A2	2	2
CTTN	2017	broad.mit.edu	37	11	70263174	70263174	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70263174G>T	uc001opu.2	+	c.513G>T	c.(511-513)AAG>AAT	p.K171N	CTTN_uc001opv.3_Missense_Mutation_p.K171N|CTTN_uc001opw.3_Missense_Mutation_p.K171N	NM_138565	NP_612632	Q14247	SRC8_HUMAN	cortactin isoform b	171	Cortactin 3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)						187				0.3	120.241297	126.328263	51	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70263174	70263174	4203	11	G	T	T	T	425	33	CTTN	2	2
ARAP1	116985	broad.mit.edu	37	11	72410139	72410139	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72410139A>T	uc001osu.2	-	c.2452T>A	c.(2452-2454)TTT>ATT	p.F818I	ARAP1_uc001osv.2_Missense_Mutation_p.F818I|ARAP1_uc001osr.2_Missense_Mutation_p.F578I|ARAP1_uc001oss.2_Missense_Mutation_p.F573I|ARAP1_uc009yth.2_Missense_Mutation_p.F512I|ARAP1_uc010rre.1_Missense_Mutation_p.F573I|ARAP1_uc001osw.1_Missense_Mutation_p.F106I	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	818	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding				0						Ovarian(102;1198 1520 13195 17913 37529)								0.138686	58.474443	93.044738	38	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72410139	72410139	849	11	A	T	T	T	39	3	ARAP1	3	3
ANKRD42	338699	broad.mit.edu	37	11	82938904	82938904	+	Silent	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82938904T>C	uc001ozz.1	+	c.819T>C	c.(817-819)CCT>CCC	p.P273P	ANKRD42_uc010rsv.1_Silent_p.P301P|ANKRD42_uc001paa.2_Silent_p.P301P|ANKRD42_uc001pab.1_Silent_p.P300P	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	273	ANK 8.										0														0.378151	160.352476	161.900569	45	74	KEEP	---	---	---	---	capture		Silent	SNP	82938904	82938904	678	11	T	C	C	C	678	53	ANKRD42	4	4
KLRC3	3823	broad.mit.edu	37	12	10587093	10587093	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10587093G>A	uc001qyh.2	-	c.323C>T	c.(322-324)ACG>ATG	p.T108M	KLRC2_uc010she.1_Missense_Mutation_p.T108M|KLRC2_uc001qyk.2_Missense_Mutation_p.T108M	NM_002261	NP_002252	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,	108	Extracellular (Potential).				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)	2														0.126984	10.953553	19.506168	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10587093	10587093	8731	12	G	A	A	A	520	40	KLRC3	1	1
OAS3	4940	broad.mit.edu	37	12	113382446	113382446	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113382446G>T	uc001tug.2	+	c.626G>T	c.(625-627)TGG>TTG	p.W209L	OAS3_uc001tuf.2_Missense_Mutation_p.W209L	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	209	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1														0.395833	51.134483	51.612818	19	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113382446	113382446	11206	12	G	T	T	T	611	47	OAS3	2	2
WDR66	144406	broad.mit.edu	37	12	122369737	122369737	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122369737G>T	uc009zxk.2	+	c.833G>T	c.(832-834)TGT>TTT	p.C278F		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	278							calcium ion binding			ovary(1)	1	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		Esophageal Squamous(85;849 1794 49757 52143)								0.447005	303.54479	304.076375	97	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122369737	122369737	17890	12	G	T	T	T	624	48	WDR66	2	2
CDKN1B	1027	broad.mit.edu	37	12	12870888	12870888	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:12870888G>C	uc001rat.2	+	c.115G>C	c.(115-117)GAA>CAA	p.E39Q		NM_004064	NP_004055	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B	39					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of gene-specific transcription|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			ovary(1)	1		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)						63				0.38009	286.897427	289.665336	84	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12870888	12870888	3288	12	G	C	C	C	481	37	CDKN1B	3	3
TMEM132D	121256	broad.mit.edu	37	12	130184930	130184930	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130184930G>T	uc009zyl.1	-	c.393C>A	c.(391-393)GCC>GCA	p.A131A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	131	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.311828	75.086408	77.994459	29	64	KEEP	---	---	---	---	capture		Silent	SNP	130184930	130184930	16579	12	G	T	T	T	548	43	TMEM132D	2	2
CACNA1C	775	broad.mit.edu	37	12	2224599	2224599	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2224599G>T	uc009zdu.1	+	c.259G>T	c.(259-261)GGG>TGG	p.G87W	CACNA1C_uc009zdv.1_Missense_Mutation_p.G87W|CACNA1C_uc001qkb.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkc.2_Missense_Mutation_p.G87W|CACNA1C_uc001qke.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkf.2_Missense_Mutation_p.G87W|CACNA1C_uc001qjz.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkd.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkg.2_Missense_Mutation_p.G87W|CACNA1C_uc009zdw.1_Missense_Mutation_p.G87W|CACNA1C_uc001qkh.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkl.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkn.2_Missense_Mutation_p.G87W|CACNA1C_uc001qko.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkp.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkr.2_Missense_Mutation_p.G87W|CACNA1C_uc001qku.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkq.2_Missense_Mutation_p.G87W|CACNA1C_uc001qks.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkt.2_Missense_Mutation_p.G87W	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	87	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)									0.388889	20.020369	20.215236	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2224599	2224599	2656	12	G	T	T	T	611	47	CACNA1C	2	2
FAR2	55711	broad.mit.edu	37	12	29423409	29423409	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29423409C>A	uc001ris.3	+	c.27C>A	c.(25-27)GGC>GGA	p.G9G	FAR2_uc001rit.2_Silent_p.G9G|FAR2_uc009zjm.2_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	9					ether lipid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0														0.352941	53.936074	54.908103	18	33	KEEP	---	---	---	---	capture		Silent	SNP	29423409	29423409	5911	12	C	A	A	A	340	27	FAR2	1	1
FAR2	55711	broad.mit.edu	37	12	29423423	29423423	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29423423T>C	uc001ris.3	+	c.41T>C	c.(40-42)CTC>CCC	p.L14P	FAR2_uc001rit.2_Missense_Mutation_p.L14P|FAR2_uc009zjm.2_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	14					ether lipid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0														0.392157	68.067567	68.592483	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29423423	29423423	5911	12	T	C	C	C	702	54	FAR2	4	4
TMTC1	83857	broad.mit.edu	37	12	29670472	29670472	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29670472A>C	uc001rjb.2	-	c.1733T>G	c.(1732-1734)TTG>TGG	p.L578W	TMTC1_uc001riz.2_Missense_Mutation_p.L335W|TMTC1_uc001rja.2_Missense_Mutation_p.L422W|TMTC1_uc001riy.2_Missense_Mutation_p.L31W	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	578	TPR 7.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.297619	167.502938	173.643505	50	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29670472	29670472	16801	12	A	C	C	C	65	5	TMTC1	4	4
ADAMTS20	80070	broad.mit.edu	37	12	43846183	43846183	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43846183C>A	uc010skx.1	-	c.1973G>T	c.(1972-1974)TGT>TTT	p.C658F		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	658	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.322581	29.843307	30.707557	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43846183	43846183	267	12	C	A	A	A	221	17	ADAMTS20	2	2
HDAC7	51564	broad.mit.edu	37	12	48188624	48188624	+	Silent	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48188624C>G	uc010slo.1	-	c.1377G>C	c.(1375-1377)GTG>GTC	p.V459V	HDAC7_uc009zku.2_5'Flank|HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Silent_p.V422V|HDAC7_uc001rqk.3_Silent_p.V442V	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	420	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)										0.204301	80.7416	95.858994	38	148	KEEP	---	---	---	---	capture		Silent	SNP	48188624	48188624	7295	12	C	G	G	G	262	21	HDAC7	3	3
KDM5A	5927	broad.mit.edu	37	12	498227	498227	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:498227C>G	uc001qif.1	-	c.31G>C	c.(31-33)GCG>CCG	p.A11P	KDM5A_uc001qie.1_Missense_Mutation_p.A11P|CCDC77_uc009zdk.2_5'Flank|CCDC77_uc010sdp.1_5'Flank|KDM5A_uc010sdn.1_Missense_Mutation_p.A11P|KDM5A_uc010sdo.1_Missense_Mutation_p.A11P	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	11					chromatin modification|multicellular organismal development|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			skin(2)|ovary(1)	3										958				0.483871	50.422989	50.430031	15	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	498227	498227	8439	12	C	G	G	G	338	26	KDM5A	3	3
PFDN5	5204	broad.mit.edu	37	12	53691907	53691907	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53691907C>T	uc001scl.2	+	c.361C>T	c.(361-363)CTT>TTT	p.L121F	PFDN5_uc001scm.2_Missense_Mutation_p.L76F|PFDN5_uc001scn.2_Non-coding_Transcript|PFDN5_uc001sco.2_Non-coding_Transcript|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	121					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of gene-specific transcription	nucleus|prefoldin complex	specific transcriptional repressor activity|transcription corepressor activity|unfolded protein binding			ovary(1)	1														0.385042	431.339088	435.521829	139	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53691907	53691907	12180	12	C	T	T	T	416	32	PFDN5	2	2
HOXC9	3225	broad.mit.edu	37	12	54394171	54394171	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54394171G>A	uc001sep.2	+	c.199G>A	c.(199-201)GCG>ACG	p.A67T	HOXC9_uc001seq.2_Missense_Mutation_p.A67T	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	67					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|pancreas(1)	2														0.188406	23.959582	30.212696	13	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54394171	54394171	7609	12	G	A	A	A	546	42	HOXC9	2	2
HELB	92797	broad.mit.edu	37	12	66698906	66698906	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:66698906A>C	uc001sti.2	+	c.583A>C	c.(583-585)ATG>CTG	p.M195L	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	195					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)										0.452632	159.922011	160.106615	43	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66698906	66698906	7328	12	A	C	C	C	156	12	HELB	4	4
IFNG	3458	broad.mit.edu	37	12	68549249	68549249	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:68549249G>T	uc001stw.1	-	c.385C>A	c.(385-387)CAA>AAA	p.Q129K		NM_000619	NP_000610	P01579	IFNG_HUMAN	interferon, gamma precursor	129					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)					63				0.27381	61.384783	65.258981	23	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68549249	68549249	7849	12	G	T	T	T	611	47	IFNG	2	2
LGR5	8549	broad.mit.edu	37	12	71960644	71960644	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71960644C>A	uc001swl.2	+	c.1022C>A	c.(1021-1023)TCA>TAA	p.S341*	LGR5_uc001swm.2_Nonsense_Mutation_p.S317*|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	341	Extracellular (Potential).|LRR 12.					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.307692	83.856436	87.287811	32	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71960644	71960644	9083	12	C	A	A	A	377	29	LGR5	5	2
SLC2A3	6515	broad.mit.edu	37	12	8074110	8074110	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8074110C>A	uc001qtr.2	-	c.1390G>T	c.(1390-1392)GCC>TCC	p.A464S		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	464	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		Colon(96;424 1461 14416 20933 23688)								0.267148	161.89214	175.485507	74	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8074110	8074110	15042	12	C	A	A	A	338	26	SLC2A3	2	2
A2ML1	144568	broad.mit.edu	37	12	8994049	8994049	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8994049C>A	uc001quz.3	+	c.1165C>A	c.(1165-1167)CAG>AAG	p.Q389K	A2ML1_uc001qva.1_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1 precursor	233						extracellular space	endopeptidase inhibitor activity			ovary(2)	2														0.360976	210.679135	214.172565	74	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8994049	8994049	6	12	C	A	A	A	273	21	A2ML1	2	2
PSPC1	55269	broad.mit.edu	37	13	20346557	20346557	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:20346557C>T	uc001uml.2	-	c.499G>A	c.(499-501)GTT>ATT	p.V167I	PSPC1_uc001umj.1_Non-coding_Transcript|PSPC1_uc001umk.1_Non-coding_Transcript	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	167	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)										0.433962	199.743239	200.349225	69	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20346557	20346557	13170	13	C	T	T	T	221	17	PSPC1	2	2
RPL21	6144	broad.mit.edu	37	13	27830439	27830439	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:27830439G>T	uc001ura.2	+	c.361G>T	c.(361-363)GAG>TAG	p.E121*	RPL21_uc001uqz.1_Nonsense_Mutation_p.E79*	NM_000982	NP_000973	P46778	RL21_HUMAN	ribosomal protein L21	121					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)										0.4375	39.74418	39.853016	14	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27830439	27830439	14046	13	G	T	T	T	429	33	RPL21	5	2
POSTN	10631	broad.mit.edu	37	13	38138664	38138664	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38138664T>A	uc001uwo.3	-	c.2465A>T	c.(2464-2466)AAA>ATA	p.K822I	POSTN_uc010tet.1_Missense_Mutation_p.K323I|POSTN_uc001uwp.3_Missense_Mutation_p.K765I|POSTN_uc001uwr.2_Missense_Mutation_p.K767I|POSTN_uc001uwq.2_Missense_Mutation_p.K737I|POSTN_uc010teu.1_Missense_Mutation_p.K795I|POSTN_uc010tev.1_Missense_Mutation_p.K735I|POSTN_uc010tew.1_Missense_Mutation_p.K707I	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	822					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.386364	48.163	48.661571	17	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38138664	38138664	12688	13	T	A	A	A	832	64	POSTN	3	3
SUGT1	10910	broad.mit.edu	37	13	53241004	53241004	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53241004C>T	uc001vhc.2	+	c.673C>T	c.(673-675)CTT>TTT	p.L225F	SUGT1_uc001vha.2_Non-coding_Transcript|SUGT1_uc001vhb.2_Missense_Mutation_p.L193F|SUGT1_uc010thb.1_Missense_Mutation_p.L137F|SUGT1_uc001vhd.2_Missense_Mutation_p.L82F	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	225	CS.				mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)										0.372549	60.011745	60.739604	19	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53241004	53241004	15889	13	C	T	T	T	416	32	SUGT1	2	2
PCDH9	5101	broad.mit.edu	37	13	67802047	67802047	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67802047C>A	uc001vik.2	-	c.526G>T	c.(526-528)GTA>TTA	p.V176L	PCDH9_uc001vil.2_Missense_Mutation_p.V176L|PCDH9_uc010thl.1_Missense_Mutation_p.V176L|PCDH9_uc001vin.3_Missense_Mutation_p.V176L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	176	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.409756	248.951134	250.412024	84	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67802047	67802047	11938	13	C	A	A	A	221	17	PCDH9	2	2
DACH1	1602	broad.mit.edu	37	13	72147097	72147097	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:72147097T>A	uc010thn.1	-	c.1174A>T	c.(1174-1176)AGC>TGC	p.S392C	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)						202				0.272727	51.137715	54.199893	18	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72147097	72147097	4386	13	T	A	A	A	715	55	DACH1	3	3
SLAIN1	122060	broad.mit.edu	37	13	78327435	78327435	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:78327435G>T	uc010thy.1	+	c.864G>T	c.(862-864)CAG>CAT	p.Q288H	SLAIN1_uc001vkk.1_Missense_Mutation_p.Q211H|SLAIN1_uc001vkl.1_Missense_Mutation_p.Q167H|SLAIN1_uc010thz.1_Missense_Mutation_p.Q166H|SLAIN1_uc010aex.1_Missense_Mutation_p.Q53H|SLAIN1_uc010aey.1_Missense_Mutation_p.Q53H|SLAIN1_uc001vkm.2_Missense_Mutation_p.Q167H	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1 B	430										ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)										0.285714	34.925794	36.947505	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78327435	78327435	14860	13	G	T	T	T	425	33	SLAIN1	2	2
OR6S1	341799	broad.mit.edu	37	14	21109399	21109399	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21109399C>A	uc001vxv.1	-	c.452G>T	c.(451-453)TGG>TTG	p.W151L		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)										0.32	41.777115	43.219393	16	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21109399	21109399	11620	14	C	A	A	A	273	21	OR6S1	2	2
FBXO33	254170	broad.mit.edu	37	14	39870751	39870751	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39870751T>A	uc001wvk.2	-	c.1025A>T	c.(1024-1026)CAC>CTC	p.H342L		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	342											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)										0.443243	256.029199	256.547618	82	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39870751	39870751	5980	14	T	A	A	A	767	59	FBXO33	3	3
MDGA2	161357	broad.mit.edu	37	14	47426714	47426714	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47426714A>T	uc001wwj.3	-	c.1745T>A	c.(1744-1746)TTA>TAA	p.L582*	MDGA2_uc001wwi.3_Nonsense_Mutation_p.L353*|MDGA2_uc010ani.2_Nonsense_Mutation_p.L142*	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	582	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.2	27.774698	33.188733	13	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47426714	47426714	9796	14	A	T	T	T	169	13	MDGA2	5	3
RPS29	6235	broad.mit.edu	37	14	50053060	50053060	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50053060C>T	uc001wwl.2	-	c.5G>A	c.(4-6)GGT>GAT	p.G2D	SDCCAG1_uc010anj.1_Intron|RPS29_uc001wwm.2_Missense_Mutation_p.G2D	NM_001030001	NP_001025172	P62273	RS29_HUMAN	ribosomal protein S29 isoform 2	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome|zinc ion binding				0	all_epithelial(31;0.00214)|Breast(41;0.0124)													0.484127	180.879304	180.900064	61	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50053060	50053060	14122	14	C	T	T	T	234	18	RPS29	2	2
NID2	22795	broad.mit.edu	37	14	52534674	52534674	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52534674G>A	uc001wzo.2	-	c.436C>T	c.(436-438)CGC>TGC	p.R146C	NID2_uc010tqs.1_Missense_Mutation_p.R146C|NID2_uc010tqt.1_Missense_Mutation_p.R146C|NID2_uc001wzp.2_Missense_Mutation_p.R146C	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	146	NIDO.				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.232432	86.85566	98.974599	43	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52534674	52534674	10816	14	G	A	A	A	494	38	NID2	1	1
WDHD1	11169	broad.mit.edu	37	14	55493428	55493428	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55493428C>A	uc001xbm.1	-	c.77_splice	c.e2+1	p.S26_splice	WDHD1_uc001xbn.1_Intron|SOCS4_uc001xbo.2_5'Flank|SOCS4_uc001xbp.2_5'Flank	NM_007086	NP_009017			WD repeat and HMG-box DNA binding protein 1							cytoplasm|nucleoplasm	DNA binding				0										606				0.096774	13.502119	43.814432	18	168	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	55493428	55493428	17844	14	C	A	A	A	234	18	WDHD1	5	2
ZFP36L1	677	broad.mit.edu	37	14	69256985	69256985	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69256985C>T	uc001xkh.1	-	c.282G>A	c.(280-282)GGG>GGA	p.G94G	ZFP36L1_uc001xki.1_Silent_p.G94G	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	94					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)								OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.571429	32.192058	32.284464	12	9	KEEP	---	---	---	---	capture		Silent	SNP	69256985	69256985	18234	14	C	T	T	T	275	22	ZFP36L1	2	2
ALKBH1	8846	broad.mit.edu	37	14	78174335	78174335	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:78174335C>A	uc001xuc.1	-	c.13G>T	c.(13-15)GCA>TCA	p.A5S	ALKBH1_uc001xud.1_Non-coding_Transcript|C14orf156_uc001xue.3_5'Flank	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	5					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)										0.652174	90.453824	91.392053	30	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78174335	78174335	529	14	C	A	A	A	338	26	ALKBH1	2	2
ALDH1A3	220	broad.mit.edu	37	15	101447433	101447433	+	Silent	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101447433T>C	uc002bwn.3	+	c.1341T>C	c.(1339-1341)AAT>AAC	p.N447N	ALDH1A3_uc010bpb.2_Silent_p.N340N	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	447					oxidation-reduction process|retinal metabolic process	cytoplasm	protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)									0.327044	164.950204	169.166434	52	107	KEEP	---	---	---	---	capture		Silent	SNP	101447433	101447433	495	15	T	C	C	C	647	50	ALDH1A3	4	4
SEMA6D	80031	broad.mit.edu	37	15	48063502	48063502	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48063502G>A	uc010bek.2	+	c.2742G>A	c.(2740-2742)TCG>TCA	p.S914S	SEMA6D_uc001zvw.2_Silent_p.S852S|SEMA6D_uc001zvy.2_Silent_p.S914S|SEMA6D_uc001zvz.2_Silent_p.S858S|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.S852S|SEMA6D_uc001zwc.2_Silent_p.S839S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	914	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			breast(1)	1		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)										0.183099	81.310798	101.383157	39	174	KEEP	---	---	---	---	capture		Silent	SNP	48063502	48063502	14528	15	G	A	A	A	470	37	SEMA6D	1	1
USP8	9101	broad.mit.edu	37	15	50769167	50769167	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50769167A>G	uc001zym.3	+	c.971A>G	c.(970-972)CAG>CGG	p.Q324R	USP8_uc001zyk.1_Missense_Mutation_p.R24G|USP8_uc001zyl.3_Missense_Mutation_p.Q324R|USP8_uc001zyn.3_Missense_Mutation_p.Q324R|USP8_uc010ufh.1_Missense_Mutation_p.Q247R|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	324					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)										0.294574	117.095499	121.968941	38	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50769167	50769167	17653	15	A	G	G	G	91	7	USP8	4	4
WDR72	256764	broad.mit.edu	37	15	54015097	54015097	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54015097C>T	uc002acj.2	-	c.162G>A	c.(160-162)GCG>GCA	p.A54A	WDR72_uc010bfi.1_Silent_p.A54A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	54	WD 1.									lung(1)	1				all cancers(107;0.0511)										0.163934	38.022424	51.109741	20	102	KEEP	---	---	---	---	capture		Silent	SNP	54015097	54015097	17895	15	C	T	T	T	392	31	WDR72	1	1
ZNF609	23060	broad.mit.edu	37	15	64966541	64966541	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:64966541C>T	uc002ann.2	+	c.1488C>T	c.(1486-1488)GAC>GAT	p.D496D		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	496	C2H2-type.					nucleus	zinc ion binding			ovary(1)	1														0.42	184.795887	185.634262	63	87	KEEP	---	---	---	---	capture		Silent	SNP	64966541	64966541	18630	15	C	T	T	T	259	20	ZNF609	2	2
MESDC1	59274	broad.mit.edu	37	15	81295659	81295659	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81295659G>T	uc002bfz.2	+	c.1047G>T	c.(1045-1047)TCG>TCT	p.S349S		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	349											0														0.104167	5.45412	12.835781	5	43	KEEP	---	---	---	---	capture		Silent	SNP	81295659	81295659	9869	15	G	T	T	T	483	38	MESDC1	1	1
AP3B2	8120	broad.mit.edu	37	15	83350261	83350261	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83350261G>T	uc010uoi.1	-	c.432C>A	c.(430-432)CCC>CCA	p.P144P	AP3B2_uc010uoh.1_Silent_p.P144P|AP3B2_uc010uoj.1_Silent_p.P112P|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	144					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.152047	45.832155	65.657631	26	145	KEEP	---	---	---	---	capture		Silent	SNP	83350261	83350261	755	15	G	T	T	T	600	47	AP3B2	2	2
ZNF592	9640	broad.mit.edu	37	15	85342390	85342390	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85342390G>T	uc002bld.2	+	c.3086G>T	c.(3085-3087)CGC>CTC	p.R1029L	ZNF592_uc010upb.1_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	1029	C2H2-type 10.				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4			BRCA - Breast invasive adenocarcinoma(143;0.0587)											0.320988	207.102572	214.00063	78	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85342390	85342390	18617	15	G	T	T	T	494	38	ZNF592	1	1
MAPK8IP3	23162	broad.mit.edu	37	16	1797083	1797083	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1797083C>T	uc010uvl.1	+	c.801C>T	c.(799-801)CCC>CCT	p.P267P	MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.2_Silent_p.P266P|MAPK8IP3_uc002cml.2_Silent_p.P266P	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	266					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			central_nervous_system(1)	1														0.302632	54.79809	57.440793	23	53	KEEP	---	---	---	---	capture		Silent	SNP	1797083	1797083	9669	16	C	T	T	T	262	21	MAPK8IP3	2	2
PDILT	204474	broad.mit.edu	37	16	20410503	20410503	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20410503C>A	uc002dhc.1	-	c.120G>T	c.(118-120)CTG>CTT	p.L40L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	40					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.568182	238.534239	239.067581	75	57	KEEP	---	---	---	---	capture		Silent	SNP	20410503	20410503	12095	16	C	A	A	A	262	21	PDILT	2	2
IL4R	3566	broad.mit.edu	37	16	27356218	27356218	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27356218G>T	uc002don.2	+	c.238G>T	c.(238-240)GGA>TGA	p.G80*	IL4R_uc002dom.2_Nonsense_Mutation_p.G80*|IL4R_uc002dop.3_Nonsense_Mutation_p.G65*|IL4R_uc010bxy.2_Nonsense_Mutation_p.G80*|IL4R_uc002doo.2_5'UTR	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	80	Extracellular (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2														0.551948	287.886754	288.248388	85	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27356218	27356218	7999	16	G	T	T	T	507	39	IL4R	5	1
LAT	27040	broad.mit.edu	37	16	29000895	29000895	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29000895G>T	uc010vdj.1	+	c.649G>T	c.(649-651)GCA>TCA	p.A217S	LAT_uc002dsb.2_Missense_Mutation_p.A181S|LAT_uc002dsd.2_Missense_Mutation_p.A210S|LAT_uc002dsc.2_Missense_Mutation_p.A180S|LAT_uc010vdk.1_Missense_Mutation_p.A171S|LAT_uc010vdl.1_Missense_Mutation_p.A209S	NM_001014989	NP_001014989	O43561	LAT_HUMAN	linker for activation of T cells isoform d	210	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)												0.470199	205.991418	206.108997	71	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29000895	29000895	8967	16	G	T	T	T	494	38	LAT	1	1
SRCAP	10847	broad.mit.edu	37	16	30723216	30723216	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30723216G>T	uc002dze.1	+	c.1553G>T	c.(1552-1554)AGT>ATT	p.S518I	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S375I|SRCAP_uc010bzz.1_Missense_Mutation_p.S88I	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	518	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3			Colorectal(24;0.198)											0.598726	295.274386	296.613937	94	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30723216	30723216	15649	16	G	T	T	T	468	36	SRCAP	2	2
CORO7	79585	broad.mit.edu	37	16	4408437	4408437	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4408437C>A	uc002cwf.2	-	c.2388G>T	c.(2386-2388)GAG>GAT	p.E796D	CORO7_uc002cwe.2_Non-coding_Transcript|CORO7_uc002cwg.3_Missense_Mutation_p.E576D|CORO7_uc002cwh.3_Missense_Mutation_p.E796D|CORO7_uc010uxh.1_Missense_Mutation_p.E778D|CORO7_uc010uxi.1_Missense_Mutation_p.E711D|CORO7_uc002cwi.1_Missense_Mutation_p.E576D	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	796						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0														0.609756	76.469107	76.898969	25	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4408437	4408437	3897	16	C	A	A	A	363	28	CORO7	2	2
SLC38A7	55238	broad.mit.edu	37	16	58712724	58712724	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58712724G>A	uc002eod.1	-	c.345C>T	c.(343-345)TAC>TAT	p.Y115Y	SLC38A7_uc002eob.1_Non-coding_Transcript|SLC38A7_uc002eoc.1_Silent_p.Y115Y|SLC38A7_uc010vil.1_Silent_p.Y26Y|SLC38A7_uc002eoe.1_Silent_p.Y115Y	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	115					amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1														0.454545	90.339065	90.458191	30	36	KEEP	---	---	---	---	capture		Silent	SNP	58712724	58712724	15106	16	G	A	A	A	568	44	SLC38A7	2	2
FTSJD1	55783	broad.mit.edu	37	16	71319391	71319391	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71319391C>A	uc010cga.2	-	c.433G>T	c.(433-435)GAA>TAA	p.E145*	FTSJD1_uc002ezy.3_Nonsense_Mutation_p.E145*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.E145*	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	145						integral to membrane	methyltransferase activity|nucleic acid binding				0														0.625	223.466229	224.999446	70	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71319391	71319391	6341	16	C	A	A	A	377	29	FTSJD1	5	2
LLGL1	3996	broad.mit.edu	37	17	18133340	18133340	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18133340G>T	uc002gsp.2	+	c.167G>T	c.(166-168)GGG>GTG	p.G56V		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	56	WD 1.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|ovary(1)|skin(1)	4	all_neural(463;0.228)													0.404762	95.627514	96.294638	34	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18133340	18133340	9162	17	G	T	T	T	559	43	LLGL1	2	2
AOC3	8639	broad.mit.edu	37	17	41004468	41004468	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41004468G>T	uc002ibv.2	+	c.1108G>T	c.(1108-1110)GCC>TCC	p.A370S		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	370	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response|oxidation-reduction process	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)	3		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	NSCLC(3;192 220 10664 11501 16477)								0.240506	89.460238	99.178973	38	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41004468	41004468	738	17	G	T	T	T	546	42	AOC3	2	2
CDK5RAP3	80279	broad.mit.edu	37	17	46052626	46052626	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46052626A>T	uc010wlc.1	+	c.496A>T	c.(496-498)AAG>TAG	p.K166*	CDK5RAP3_uc002imq.1_5'UTR|CDK5RAP3_uc002imr.2_Nonsense_Mutation_p.K146*|CDK5RAP3_uc002imu.2_5'UTR|CDK5RAP3_uc002ims.2_Nonsense_Mutation_p.K59*|CDK5RAP3_uc002imv.2_5'UTR|CDK5RAP3_uc002imw.2_5'UTR|CDK5RAP3_uc002imx.2_5'UTR	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	146					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0														0.40625	114.11022	114.845887	39	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46052626	46052626	3276	17	A	T	T	T	65	5	CDK5RAP3	5	3
SLC25A11	8402	broad.mit.edu	37	17	4842201	4842201	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4842201A>T	uc002fzo.1	-	c.318T>A	c.(316-318)TTT>TTA	p.F106L	SLC25A11_uc002fzp.1_Missense_Mutation_p.F102L|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	106	Solcar 1.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						Esophageal Squamous(144;1178 2388 18010 48797)								0.402985	83.016821	83.566446	27	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4842201	4842201	14970	17	A	T	T	T	63	5	SLC25A11	3	3
USP6	9098	broad.mit.edu	37	17	5040419	5040419	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5040419A>C	uc002gau.1	+	c.763A>C	c.(763-765)AAG>CAG	p.K255Q	USP6_uc002gav.1_Missense_Mutation_p.K255Q|USP6_uc010ckz.1_5'UTR	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	255	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1										464				0.230769	55.413535	60.590816	18	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5040419	5040419	17650	17	A	C	C	C	65	5	USP6	4	4
ABCA6	23460	broad.mit.edu	37	17	67132263	67132263	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67132263T>C	uc002jhw.1	-	c.430A>G	c.(430-432)AAC>GAC	p.N144D	ABCA6_uc002jhy.2_Missense_Mutation_p.N142D	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	144					transport	integral to membrane	ATP binding|ATPase activity			large_intestine(2)|ovary(2)	4	Breast(10;5.65e-12)													0.222222	6.347059	6.984431	2	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67132263	67132263	37	17	T	C	C	C	793	61	ABCA6	4	4
ABCA5	23461	broad.mit.edu	37	17	67302912	67302912	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67302912T>A	uc002jif.2	-	c.742A>T	c.(742-744)ATA>TTA	p.I248L	ABCA5_uc002jig.2_Missense_Mutation_p.I248L|ABCA5_uc002jih.2_Missense_Mutation_p.I248L|ABCA5_uc010dfe.2_Missense_Mutation_p.I248L	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	248					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|reverse cholesterol transport	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;3.72e-11)													0.6	48.026231	48.244277	15	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67302912	67302912	36	17	T	A	A	A	676	52	ABCA5	3	3
DVL2	1856	broad.mit.edu	37	17	7134075	7134075	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7134075G>A	uc002gez.1	-	c.236C>T	c.(235-237)CCC>CTC	p.P79L	DVL2_uc010vtr.1_Missense_Mutation_p.P79L|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.P79L	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	79	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	nucleus	frizzled binding|identical protein binding|signal transducer activity			kidney(1)	1														0.255034	102.003433	110.099507	38	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7134075	7134075	5022	17	G	A	A	A	559	43	DVL2	2	2
GPR142	350383	broad.mit.edu	37	17	72368080	72368080	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72368080G>T	uc010wqy.1	+	c.730G>T	c.(730-732)GCC>TCC	p.A244S	GPR142_uc010wqx.1_Missense_Mutation_p.A156S	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	244	Helical; Name=3; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3														0.142857	14.275245	21.147328	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72368080	72368080	6924	17	G	T	T	T	494	38	GPR142	1	1
UBE2O	63893	broad.mit.edu	37	17	74394977	74394977	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74394977G>A	uc002jrm.3	-	c.1724C>T	c.(1723-1725)CCT>CTT	p.P575L	UBE2O_uc002jrn.3_Missense_Mutation_p.P575L|UBE2O_uc002jrl.3_Missense_Mutation_p.P178L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	575					post-translational protein modification		ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5										583				0.195122	164.486655	196.47682	72	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74394977	74394977	17425	17	G	A	A	A	455	35	UBE2O	2	2
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577099C>A	uc002gim.2	-	c.839G>T	c.(838-840)AGA>ATA	p.R280I	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148I|TP53_uc010cng.1_Missense_Mutation_p.R148I|TP53_uc002gii.1_Missense_Mutation_p.R148I|TP53_uc010cnh.1_Missense_Mutation_p.R280I|TP53_uc010cni.1_Missense_Mutation_p.R280I|TP53_uc002gij.2_Missense_Mutation_p.R280I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R280T(52)|p.R280K(40)|p.R280I(12)|p.0?(6)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.R280T(KMBC2-Tumor)|p.R280T(CAMA1-Tumor)|p.V274fs(SCC9-Tumor)|p.R280T(JMSU1-Tumor)|p.R280T(5637-Tumor)|p.R280K(MDAMB231-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.387097	64.978987	65.673591	24	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577099	7577099	16923	17	C	A	A	A	416	32	TP53	2	2
NTN1	9423	broad.mit.edu	37	17	9083206	9083206	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9083206G>T	uc002glw.3	+	c.1290G>T	c.(1288-1290)ACG>ACT	p.T430T		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	430	Laminin EGF-like 3.				apoptosis|axon guidance		protein binding				0														0.42	61.664777	61.944204	21	29	KEEP	---	---	---	---	capture		Silent	SNP	9083206	9083206	11105	17	G	T	T	T	496	39	NTN1	1	1
SEH1L	81929	broad.mit.edu	37	18	12955608	12955608	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:12955608G>T	uc002krq.2	+	c.309G>T	c.(307-309)TGG>TGT	p.W103C	SEH1L_uc002krr.2_Missense_Mutation_p.W103C	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	sec13-like protein isoform 1	103					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex					0														0.287879	51.396949	54.060606	19	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12955608	12955608	14495	18	G	T	T	T	559	43	SEH1L	2	2
CDH2	1000	broad.mit.edu	37	18	25572694	25572694	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25572694A>C	uc002kwg.2	-	c.1269T>G	c.(1267-1269)AGT>AGG	p.S423R	CDH2_uc010xbn.1_Missense_Mutation_p.S392R	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	423	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.173913	24.160654	31.085796	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25572694	25572694	3234	18	A	C	C	C	76	6	CDH2	4	4
PIK3C3	5289	broad.mit.edu	37	18	39537617	39537617	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:39537617C>G	uc002lap.2	+	c.151C>G	c.(151-153)CAA>GAA	p.Q51E	PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002lao.2_Missense_Mutation_p.Q51E	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	51					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(7)|ovary(1)	8						NSCLC(37;552 1060 2683 16430 37914)				441	TSP Lung(28;0.18)			0.411765	186.161456	186.968772	49	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39537617	39537617	12336	18	C	G	G	G	377	29	PIK3C3	3	3
SETBP1	26040	broad.mit.edu	37	18	42618463	42618463	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42618463C>A	uc010dni.2	+	c.4014C>A	c.(4012-4014)CCC>CCA	p.P1338P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1338						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.37234	102.523914	103.86037	35	59	KEEP	---	---	---	---	capture		Silent	SNP	42618463	42618463	14617	18	C	A	A	A	275	22	SETBP1	2	2
SLC14A1	6563	broad.mit.edu	37	18	43319551	43319551	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43319551C>T	uc010dnk.2	+	c.1038C>T	c.(1036-1038)AGC>AGT	p.S346S	SLC14A1_uc010xcn.1_Silent_p.S290S|SLC14A1_uc002lbf.3_Silent_p.S290S|SLC14A1_uc002lbg.3_Non-coding_Transcript|SLC14A1_uc010xco.1_Silent_p.S185S|SLC14A1_uc002lbh.3_Silent_p.S182S|SLC14A1_uc002lbi.3_Silent_p.S158S|SLC14A1_uc002lbj.3_Silent_p.S346S|SLC14A1_uc002lbk.3_Silent_p.S290S	NM_001128588	NP_001122060	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	290	Helical; (Potential).					integral to plasma membrane	ubiquitin-ubiquitin ligase activity|urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2										201				0.309524	105.492193	109.557809	39	87	KEEP	---	---	---	---	capture		Silent	SNP	43319551	43319551	14891	18	C	T	T	T	363	28	SLC14A1	2	2
C18orf25	147339	broad.mit.edu	37	18	43796093	43796093	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43796093C>A	uc002lbw.2	+	c.247C>A	c.(247-249)CGA>AGA	p.R83R	C18orf25_uc002lbx.2_Silent_p.R83R	NM_145055	NP_659492	Q96B23	CR025_HUMAN	ARKadia-like 1 isoform a	83										central_nervous_system(2)	2														0.348993	152.751653	155.751524	52	97	KEEP	---	---	---	---	capture		Silent	SNP	43796093	43796093	1960	18	C	A	A	A	295	23	C18orf25	1	1
RNF152	220441	broad.mit.edu	37	18	59483460	59483460	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59483460G>A	uc002lih.1	-	c.237C>T	c.(235-237)ATC>ATT	p.I79I		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	79					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)												0.184211	27.396433	34.523959	14	62	KEEP	---	---	---	---	capture		Silent	SNP	59483460	59483460	13930	18	G	A	A	A	473	37	RNF152	1	1
SERPINB7	8710	broad.mit.edu	37	18	61459667	61459667	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61459667C>A	uc002ljl.2	+	c.209C>A	c.(208-210)TCT>TAT	p.S70Y	SERPINB7_uc002ljm.2_Missense_Mutation_p.S70Y|SERPINB7_uc010xet.1_Intron|SERPINB7_uc010dqg.2_Missense_Mutation_p.S70Y	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	70					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)												0.3	47.023466	49.16962	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61459667	61459667	14594	18	C	A	A	A	416	32	SERPINB7	2	2
CDH7	1005	broad.mit.edu	37	18	63492010	63492010	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63492010C>A	uc002ljz.2	+	c.924C>A	c.(922-924)GGC>GGA	p.G308G	CDH7_uc002lka.2_Silent_p.G308G|CDH7_uc002lkb.2_Silent_p.G308G	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	308	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.131148	11.684133	19.646358	8	53	KEEP	---	---	---	---	capture		Silent	SNP	63492010	63492010	3244	18	C	A	A	A	314	25	CDH7	2	2
LAMA1	284217	broad.mit.edu	37	18	6971968	6971968	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:6971968C>A	uc002knm.2	-	c.6787G>T	c.(6787-6789)GTG>TTG	p.V2263L	LAMA1_uc010wzj.1_Missense_Mutation_p.V1739L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2263	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.379085	176.519534	178.479658	58	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6971968	6971968	8928	18	C	A	A	A	221	17	LAMA1	2	2
ZNF236	7776	broad.mit.edu	37	18	74583760	74583760	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74583760C>T	uc002lmi.2	+	c.640C>T	c.(640-642)CGA>TGA	p.R214*	ZNF236_uc002lmj.2_Non-coding_Transcript|ZNF236_uc002lmk.1_Nonsense_Mutation_p.R214*	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	214	C2H2-type 6.				cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)										0.381679	140.722076	142.328866	50	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	74583760	74583760	18380	18	C	T	T	T	347	27	ZNF236	5	1
COL5A3	50509	broad.mit.edu	37	19	10102485	10102485	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10102485C>A	uc002mmq.1	-	c.1926G>T	c.(1924-1926)CAG>CAT	p.Q642H		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	642	Triple-helical region.				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)											0.762162	451.125915	462.731735	141	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10102485	10102485	3836	19	C	A	A	A	363	28	COL5A3	2	2
CACNA1A	773	broad.mit.edu	37	19	13410132	13410132	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13410132G>T	uc002mwy.3	-	c.2315C>A	c.(2314-2316)TCC>TAC	p.S772Y	CACNA1A_uc010dzc.2_Missense_Mutation_p.S298Y|CACNA1A_uc010dze.2_Missense_Mutation_p.S773Y|CACNA1A_uc010xne.1_Missense_Mutation_p.S301Y	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 4	773	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)									0.607735	327.762611	329.59705	110	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13410132	13410132	2654	19	G	T	T	T	533	41	CACNA1A	2	2
OR7A10	390892	broad.mit.edu	37	19	14952563	14952563	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14952563G>A	uc002mzx.1	-	c.127C>T	c.(127-129)CTG>TTG	p.L43L		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.607143	114.66805	115.235124	34	22	KEEP	---	---	---	---	capture		Silent	SNP	14952563	14952563	11625	19	G	A	A	A	451	35	OR7A10	2	2
CYP4F8	11283	broad.mit.edu	37	19	15726466	15726466	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15726466G>T	uc002nbi.2	+	c.39G>T	c.(37-39)CCG>CCT	p.P13P	CYP4F8_uc010xoi.1_Silent_p.P13P|CYP4F8_uc010xoj.1_5'UTR	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	13					oxidation-reduction process|prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1														0.625	16.078767	16.189852	5	3	KEEP	---	---	---	---	capture		Silent	SNP	15726466	15726466	4356	19	G	T	T	T	496	39	CYP4F8	1	1
LMNB2	84823	broad.mit.edu	37	19	2438179	2438179	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2438179C>T	uc002lwa.1	-	c.666G>A	c.(664-666)CGG>CGA	p.R222R	LMNB2_uc002lvy.2_Silent_p.R202R	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	202	Rod.|Coil 1B.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)						1275				0.180556	50.142744	63.98855	26	118	KEEP	---	---	---	---	capture		Silent	SNP	2438179	2438179	9179	19	C	T	T	T	379	30	LMNB2	2	2
THOP1	7064	broad.mit.edu	37	19	2796159	2796159	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2796159G>T	uc002lwj.2	+	c.459G>T	c.(457-459)GGG>GGT	p.G153G	THOP1_uc010xgz.1_Silent_p.G32G	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	153					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.701754	120.682902	122.761416	40	17	KEEP	---	---	---	---	capture		Silent	SNP	2796159	2796159	16399	19	G	T	T	T	535	42	THOP1	2	2
TSHZ3	57616	broad.mit.edu	37	19	31768945	31768945	+	Missense_Mutation	SNP	G	T	T	rs61747224	by1000genomes	TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768945G>T	uc002nsy.3	-	c.1754C>A	c.(1753-1755)CCG>CAG	p.P585Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	585					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)													0.214634	101.80491	117.207758	44	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768945	31768945	17176	19	G	T	T	T	507	39	TSHZ3	1	1
SLC7A10	56301	broad.mit.edu	37	19	33703293	33703293	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33703293C>A	uc002num.2	-	c.693G>T	c.(691-693)GTG>GTT	p.V231V	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.1_Silent_p.V204V	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	solute carrier family 7, member 10	231					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(110;0.137)													0.230769	35.042419	39.325231	15	50	KEEP	---	---	---	---	capture		Silent	SNP	33703293	33703293	15190	19	C	A	A	A	262	21	SLC7A10	2	2
USF2	7392	broad.mit.edu	37	19	35761990	35761990	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35761990A>G	uc002nyq.1	+	c.673A>G	c.(673-675)ATT>GTT	p.I225V	USF2_uc010xss.1_Missense_Mutation_p.I225V|USF2_uc002nyr.1_Missense_Mutation_p.I158V|USF2_uc002nys.1_Missense_Mutation_p.I27V|USF2_uc002nyt.1_Missense_Mutation_p.I94V|USF2_uc002nyu.1_Missense_Mutation_p.I27V|USF2_uc002nyv.1_Missense_Mutation_p.I27V	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	225					late viral mRNA transcription|lipid homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			NSCLC(103;173 2832 8890)								0.209581	94.493456	107.485502	35	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35761990	35761990	17595	19	A	G	G	G	52	4	USF2	4	4
PIP5K1C	23396	broad.mit.edu	37	19	3641807	3641807	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3641807C>A	uc010xhr.1	-	c.1683G>T	c.(1681-1683)AGG>AGT	p.R561S	PIP5K1C_uc002lyj.1_Missense_Mutation_p.R561S|PIP5K1C_uc010xhq.1_Missense_Mutation_p.R561S	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	561					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		Esophageal Squamous(135;99 1744 12852 27186 39851)				246				0.764706	118.144757	121.420073	39	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3641807	3641807	12365	19	C	A	A	A	337	26	PIP5K1C	2	2
CYP2B6	1555	broad.mit.edu	37	19	41510205	41510205	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41510205T>A	uc002opr.1	+	c.338T>A	c.(337-339)GTG>GAG	p.V113E	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.V73E	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	113					cellular ketone metabolic process|exogenous drug catabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)					56				0.269231	19.420419	20.665451	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41510205	41510205	4329	19	T	A	A	A	767	59	CYP2B6	3	3
CYP2A13	1553	broad.mit.edu	37	19	41600880	41600880	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41600880C>T	uc002opt.2	+	c.1178C>T	c.(1177-1179)CCT>CTT	p.P393L		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	393					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)									0.253333	106.179882	114.463643	38	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41600880	41600880	4326	19	C	T	T	T	312	24	CYP2A13	2	2
SEMA6B	10501	broad.mit.edu	37	19	4552480	4552480	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4552480C>A	uc010duc.1	-	c.943G>T	c.(943-945)GGG>TGG	p.G315W	SEMA6B_uc010dud.2_Missense_Mutation_p.G315W|SEMA6B_uc010xih.1_Missense_Mutation_p.G315W	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	315	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)										0.363636	9.692554	9.874196	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4552480	4552480	14526	19	C	A	A	A	299	23	SEMA6B	1	1
ZNF614	80110	broad.mit.edu	37	19	52519539	52519539	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52519539T>C	uc002pyj.2	-	c.1312A>G	c.(1312-1314)ACA>GCA	p.T438A	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.T141A	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	438	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)										0.323944	146.013199	149.913374	46	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52519539	52519539	18634	19	T	C	C	C	767	59	ZNF614	4	4
ZNF665	79788	broad.mit.edu	37	19	53669109	53669109	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53669109C>A	uc010eqm.1	-	c.634G>T	c.(634-636)GGC>TGC	p.G212C		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	147	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)										0.345133	108.884727	111.280835	39	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53669109	53669109	18668	19	C	A	A	A	273	21	ZNF665	2	2
KIR3DL1	3811	broad.mit.edu	37	19	55377868	55377868	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55377868G>T	uc002qhl.3	+	c.1149G>T	c.(1147-1149)GTG>GTT	p.V383V	KIR3DL2_uc010esh.2_Silent_p.V366V|KIR3DL2_uc002qho.3_Silent_p.V383V	KIR3DS1		P43629	KI3L1_HUMAN	SubName: Full=KIR3DS1;	383	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.322581	79.434585	82.025052	30	63	KEEP	---	---	---	---	capture		Silent	SNP	55377868	55377868	8632	19	G	T	T	T	574	45	KIR3DL1	2	2
TNNI3	7137	broad.mit.edu	37	19	55666160	55666160	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55666160C>A	uc002qjg.3	-	c.321G>T	c.(319-321)GTG>GTT	p.V107V	TNNI3_uc010yft.1_Silent_p.V99V	NM_000363	NP_000354	P19429	TNNI3_HUMAN	troponin I, cardiac	107					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			lung(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)										0.257143	45.125458	48.864602	18	52	KEEP	---	---	---	---	capture		Silent	SNP	55666160	55666160	16869	19	C	A	A	A	262	21	TNNI3	2	2
ZNF550	162972	broad.mit.edu	37	19	58058519	58058519	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58058519G>A	uc002qpe.1	-	c.970C>T	c.(970-972)CAC>TAC	p.H324Y	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_Non-coding_Transcript|ZNF550_uc010eue.1_Non-coding_Transcript|ZNF550_uc002qpd.2_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	365	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.277778	38.499594	40.900402	15	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58058519	58058519	18577	19	G	A	A	A	585	45	ZNF550	2	2
OR2Z1	284383	broad.mit.edu	37	19	8841574	8841574	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8841574C>T	uc010xkg.1	+	c.184C>T	c.(184-186)CTG>TTG	p.L62L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.804082	698.996933	720.116624	197	48	KEEP	---	---	---	---	capture		Silent	SNP	8841574	8841574	11442	19	C	T	T	T	311	24	OR2Z1	2	2
MUC16	94025	broad.mit.edu	37	19	9067228	9067228	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9067228C>A	uc002mkp.2	-	c.20218G>T	c.(20218-20220)GGT>TGT	p.G6740C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6742	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.757919	1084.586146	1111.379062	335	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9067228	9067228	10367	19	C	A	A	A	312	24	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9073450	9073450	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9073450G>T	uc002mkp.2	-	c.13996C>A	c.(13996-13998)CTT>ATT	p.L4666I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4668	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.069498	-9.854854	39.747114	18	241	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9073450	9073450	10367	19	G	T	T	T	468	36	MUC16	2	2
PEX14	5195	broad.mit.edu	37	1	10690005	10690005	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10690005G>A	uc001arn.2	+	c.1095G>A	c.(1093-1095)CGG>CGA	p.R365R	PEX14_uc009vmv.2_Silent_p.R301R|PEX14_uc010oam.1_Silent_p.R301R|PEX14_uc010oan.1_Silent_p.R322R|PEX14_uc009vmw.2_Silent_p.R301R	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	365					negative regulation of gene-specific transcription|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(1)	1	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)										0.355932	56.449375	57.531965	21	38	KEEP	---	---	---	---	capture		Silent	SNP	10690005	10690005	12164	1	G	A	A	A	535	42	PEX14	2	2
KCNA10	3744	broad.mit.edu	37	1	111060705	111060705	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111060705C>T	uc001dzt.1	-	c.705G>A	c.(703-705)CTG>CTA	p.L235L		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	235	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)										0.384106	163.395471	165.179604	58	93	KEEP	---	---	---	---	capture		Silent	SNP	111060705	111060705	8307	1	C	T	T	T	262	21	KCNA10	2	2
NGF	4803	broad.mit.edu	37	1	115829306	115829306	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115829306C>A	uc001efu.1	-	c.111G>T	c.(109-111)TGG>TGT	p.W37C		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	37					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(1)	1	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)					36				0.357798	98.277217	100.225462	39	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115829306	115829306	10795	1	C	A	A	A	390	30	NGF	2	2
SPAG17	200162	broad.mit.edu	37	1	118527328	118527328	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118527328A>C	uc001ehk.2	-	c.5747T>G	c.(5746-5748)TTG>TGG	p.L1916W		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1916						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.168224	44.469907	55.650864	18	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118527328	118527328	15482	1	A	C	C	C	65	5	SPAG17	4	4
SPAG17	200162	broad.mit.edu	37	1	118609425	118609425	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118609425C>T	uc001ehk.2	-	c.2483G>A	c.(2482-2484)AGA>AAA	p.R828K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	828						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.261364	60.480326	65.018647	23	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118609425	118609425	15482	1	C	T	T	T	416	32	SPAG17	2	2
PRAMEF12	390999	broad.mit.edu	37	1	12836257	12836257	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12836257C>T	uc001aui.2	+	c.859C>T	c.(859-861)CTC>TTC	p.L287F		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	287										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.12	33.858209	62.188638	24	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12836257	12836257	12864	1	C	T	T	T	364	28	PRAMEF12	2	2
PRAMEF4	400735	broad.mit.edu	37	1	12939691	12939691	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12939691C>T	uc001aun.2	-	c.1111G>A	c.(1111-1113)GCC>ACC	p.A371T		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	371	LRR 5.									ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.15894	118.470494	168.656572	72	381	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12939691	12939691	12877	1	C	T	T	T	351	27	PRAMEF4	1	1
INSRR	3645	broad.mit.edu	37	1	156810764	156810764	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156810764G>T	uc010pht.1	-	c.3795C>A	c.(3793-3795)TGC>TGA	p.C1265*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1265	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(7)|ovary(4)|kidney(1)|central_nervous_system(1)|skin(1)	14	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									299				0.137931	5.978842	9.65716	4	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	156810764	156810764	8075	1	G	T	T	T	542	42	INSRR	5	2
SPTA1	6708	broad.mit.edu	37	1	158596753	158596753	+	Silent	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158596753T>A	uc001fst.1	-	c.5709A>T	c.(5707-5709)ATA>ATT	p.I1903I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1903	Spectrin 18.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.201613	57.107902	67.365174	25	99	KEEP	---	---	---	---	capture		Silent	SNP	158596753	158596753	15630	1	T	A	A	A	680	53	SPTA1	3	3
OR10J3	441911	broad.mit.edu	37	1	159283979	159283980	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159283979_159283980GG>TT	uc010piu.1	-	c.470_471CC>AA	c.(469-471)GCC>GAA	p.A157E		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)													0.485294	105.372161	105.384956	33	35	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	159283979	159283980	11317	1	GG	TT	TT	TT	600	47	OR10J3	2	2
EPHA2	1969	broad.mit.edu	37	1	16464843	16464843	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16464843C>T	uc001aya.1	-	c.906G>A	c.(904-906)GAG>GAA	p.E302E	EPHA2_uc010oca.1_Silent_p.E302E	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	302	Extracellular (Potential).|Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|ephrin receptor signaling pathway|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|protein phosphorylation|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|leading edge membrane	ATP binding|ephrin receptor activity|protein binding			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)					485				0.169492	20.31237	26.412762	10	49	KEEP	---	---	---	---	capture		Silent	SNP	16464843	16464843	5360	1	C	T	T	T	311	24	EPHA2	2	2
ASTN1	460	broad.mit.edu	37	1	176918355	176918355	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176918355C>A	uc001glc.2	-	c.2020G>T	c.(2020-2022)GAC>TAC	p.D674Y	ASTN1_uc001glb.1_Missense_Mutation_p.D674Y|ASTN1_uc001gld.1_Missense_Mutation_p.D674Y|ASTN1_uc009wwx.1_Missense_Mutation_p.D674Y	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	682	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849		OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.43038	101.236402	101.570106	34	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176918355	176918355	1083	1	C	A	A	A	403	31	ASTN1	1	1
HP1BP3	50809	broad.mit.edu	37	1	21071463	21071463	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21071463T>A	uc001bdw.1	-	c.1489A>T	c.(1489-1491)AAA>TAA	p.K497*	HP1BP3_uc001bdv.1_Nonsense_Mutation_p.K459*|HP1BP3_uc010odh.1_Nonsense_Mutation_p.K459*|HP1BP3_uc001bdy.1_Nonsense_Mutation_p.K497*|HP1BP3_uc010odf.1_Nonsense_Mutation_p.K156*|HP1BP3_uc010odg.1_Nonsense_Mutation_p.K345*	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	497	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)										0.183206	43.233847	55.569956	24	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21071463	21071463	7620	1	T	A	A	A	806	62	HP1BP3	5	3
CHRM3	1131	broad.mit.edu	37	1	240072434	240072434	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240072434C>A	uc001hyp.2	+	c.1683C>A	c.(1681-1683)TGC>TGA	p.C561*		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	561	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.291667	52.359925	55.151144	21	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	240072434	240072434	3512	1	C	A	A	A	337	26	CHRM3	5	2
OR2C3	81472	broad.mit.edu	37	1	247695135	247695135	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695135A>T	uc009xgy.2	-	c.679T>A	c.(679-681)TTG>ATG	p.L227M	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.178571	38.740677	49.626668	20	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247695135	247695135	11399	1	A	T	T	T	24	2	OR2C3	3	3
PTPRU	10076	broad.mit.edu	37	1	29601961	29601961	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29601961G>T	uc001bru.2	+	c.1146G>T	c.(1144-1146)GAG>GAT	p.E382D	PTPRU_uc001brv.2_Missense_Mutation_p.E382D|PTPRU_uc001brw.2_Missense_Mutation_p.E382D|PTPRU_uc009vtq.2_Missense_Mutation_p.E382D|PTPRU_uc009vtr.2_Missense_Mutation_p.E382D	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	382	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)						874				0.534483	93.123485	93.183067	31	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29601961	29601961	13271	1	G	T	T	T	438	34	PTPRU	2	2
TMEM39B	55116	broad.mit.edu	37	1	32557579	32557579	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32557579C>A	uc001bue.3	+	c.897C>A	c.(895-897)TAC>TAA	p.Y299*	TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Nonsense_Mutation_p.Y171*|TMEM39B_uc010ogv.1_Nonsense_Mutation_p.Y298*|TMEM39B_uc001buf.3_Nonsense_Mutation_p.Y99*|TMEM39B_uc010ogw.1_Nonsense_Mutation_p.Y99*	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	298	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)												0.306667	62.511748	65.003413	23	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32557579	32557579	16701	1	C	A	A	A	259	20	TMEM39B	5	2
CSMD2	114784	broad.mit.edu	37	1	33985220	33985220	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33985220C>A	uc001bxm.1	-	c.10794G>T	c.(10792-10794)CGG>CGT	p.R3598R	CSMD2_uc001bxn.1_Silent_p.R3454R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3454	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.164157	199.98853	271.014765	109	555	KEEP	---	---	---	---	capture		Silent	SNP	33985220	33985220	4086	1	C	A	A	A	275	22	CSMD2	2	2
DLGAP3	58512	broad.mit.edu	37	1	35365726	35365726	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35365726G>A	uc001byc.2	-	c.1256C>T	c.(1255-1257)GCA>GTA	p.A419V		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	419					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)												0.225806	68.509453	79.251582	35	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35365726	35365726	4741	1	G	A	A	A	598	46	DLGAP3	2	2
KIAA0754	643314	broad.mit.edu	37	1	39878353	39878353	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39878353C>G	uc009vvt.1	+	c.2416C>G	c.(2416-2418)CTA>GTA	p.L806V	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	670											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)											0.568182	176.959945	177.315897	50	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39878353	39878353	8499	1	C	G	G	G	311	24	KIAA0754	3	3
RLF	6018	broad.mit.edu	37	1	40627278	40627278	+	Silent	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40627278A>T	uc001cfc.3	+	c.207A>T	c.(205-207)TCA>TCT	p.S69S		NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	69					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription activator activity|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)											0.333333	95.237416	97.675191	33	66	KEEP	---	---	---	---	capture		Silent	SNP	40627278	40627278	13866	1	A	T	T	T	93	8	RLF	3	3
CYP4B1	1580	broad.mit.edu	37	1	47282729	47282730	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47282729_47282730GG>TT	uc001cqn.3	+	c.1083_1084GG>TT	c.(1081-1086)CTGGGC>CTTTGC	p.G362C	CYP4B1_uc001cqm.3_Missense_Mutation_p.G361C|CYP4B1_uc009vym.2_Missense_Mutation_p.G347C|CYP4B1_uc010omk.1_Missense_Mutation_p.G198C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	361					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.13913	52.767397	81.609314	32	198	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47282729	47282730	4350	1	GG	TT	TT	TT	600	47	CYP4B1	2	2
C1orf175	374977	broad.mit.edu	37	1	55119167	55119167	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55119167G>T	uc010ooe.1	+	c.568G>T	c.(568-570)GGC>TGC	p.G190C	C1orf175_uc001cxq.2_Non-coding_Transcript|C1orf175_uc001cxo.2_Missense_Mutation_p.G190C|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_Non-coding_Transcript|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc010oog.1_Missense_Mutation_p.G190C|C1orf175_uc010ooh.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	190						integral to membrane	binding				0														0.635036	270.847143	273.042937	87	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55119167	55119167	2083	1	G	T	T	T	559	43	C1orf175	2	2
DAB1	1600	broad.mit.edu	37	1	57489264	57489264	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57489264G>C	uc001cys.1	-	c.835C>G	c.(835-837)CTT>GTT	p.L279V	DAB1_uc001cyt.1_Missense_Mutation_p.L277V|DAB1_uc001cyq.1_Missense_Mutation_p.L277V|DAB1_uc001cyr.1_Missense_Mutation_p.L193V|DAB1_uc009vzw.1_Missense_Mutation_p.L261V|DAB1_uc009vzx.1_Missense_Mutation_p.L279V	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	312					cell differentiation|nervous system development					ovary(1)	1										395				0.363636	25.893668	26.253767	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57489264	57489264	4383	1	G	C	C	C	455	35	DAB1	3	3
FAM73A	374986	broad.mit.edu	37	1	78340618	78340618	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78340618C>A	uc010ork.1	+	c.1771C>A	c.(1771-1773)CAG>AAG	p.Q591K	FAM73A_uc001dhx.2_Missense_Mutation_p.Q590K|FAM73A_uc010orl.1_Missense_Mutation_p.Q553K	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	590						integral to membrane				ovary(1)	1				Colorectal(170;0.226)										0.462366	132.213404	132.328437	43	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78340618	78340618	5841	1	C	A	A	A	325	25	FAM73A	2	2
GBP5	115362	broad.mit.edu	37	1	89735060	89735060	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89735060C>A	uc001dnc.2	-	c.179G>T	c.(178-180)GGG>GTG	p.G60V	GBP5_uc001dnd.2_Missense_Mutation_p.G60V|GBP5_uc001dne.1_Missense_Mutation_p.G60V	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	60						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)										0.43662	184.258684	184.748372	62	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89735060	89735060	6543	1	C	A	A	A	286	22	GBP5	2	2
HES4	57801	broad.mit.edu	37	1	935138	935138	+	Silent	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:935138G>C	uc010nyc.1	-	c.216C>G	c.(214-216)CGC>CGG	p.R72R	HES4_uc001aci.2_Silent_p.R46R	NM_001142467	NP_001135939	Q9HCC6	HES4_HUMAN	hairy and enhancer of split 4 isoform 1	46	Basic motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)										0.181818	16.536204	20.78488	8	36	KEEP	---	---	---	---	capture		Silent	SNP	935138	935138	7351	1	G	C	C	C	535	42	HES4	3	3
TMEM201	199953	broad.mit.edu	37	1	9658630	9658630	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9658630C>T	uc001apz.2	+	c.553C>T	c.(553-555)CTG>TTG	p.L185L	TMEM201_uc001apy.2_Silent_p.L185L	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	185						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)										0.328767	69.376833	71.273624	24	49	KEEP	---	---	---	---	capture		Silent	SNP	9658630	9658630	16661	1	C	T	T	T	311	24	TMEM201	2	2
DUSP15	128853	broad.mit.edu	37	20	30436639	30436639	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30436639C>T	uc002wwu.1	-	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q		DUSP15		Q9H1R2	DUS15_HUMAN	RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;	232						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.159091	10.902887	15.775625	7	37	KEEP	---	---	---	---	capture		Silent	SNP	30436639	30436639	5000	20	C	T	T	T	352	28	DUSP15	2	2
EDEM2	55741	broad.mit.edu	37	20	33703271	33703271	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33703271C>A	uc002xbo.2	-	c.1702G>T	c.(1702-1704)GCA>TCA	p.A568S	EDEM2_uc010zus.1_Missense_Mutation_p.A347S|EDEM2_uc002xbq.2_Missense_Mutation_p.A531S|EDEM2_uc010zut.1_Missense_Mutation_p.A527S|EDEM2_uc002xbp.2_Missense_Mutation_p.A416S|EDEM2_uc002xbn.2_Missense_Mutation_p.A416S|EDEM2_uc002xbr.2_Non-coding_Transcript|EDEM2_uc010zuu.1_Missense_Mutation_p.A292S	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	568					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			Esophageal Squamous(51;906 1021 24535 36410 39145)								0.392941	495.644256	499.904451	167	258	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33703271	33703271	5099	20	C	A	A	A	338	26	EDEM2	2	2
EDEM2	55741	broad.mit.edu	37	20	33711807	33711807	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33711807T>A	uc002xbo.2	-	c.1000A>T	c.(1000-1002)AGG>TGG	p.R334W	EDEM2_uc010zuv.1_Missense_Mutation_p.R293W|EDEM2_uc010zus.1_Missense_Mutation_p.R113W|EDEM2_uc002xbq.2_Missense_Mutation_p.R297W|EDEM2_uc010zut.1_Missense_Mutation_p.R293W|EDEM2_uc002xbp.2_Missense_Mutation_p.R182W|EDEM2_uc002xbn.2_Missense_Mutation_p.R182W|EDEM2_uc002xbr.2_Non-coding_Transcript|EDEM2_uc010zuu.1_Missense_Mutation_p.R58W	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	334					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			Esophageal Squamous(51;906 1021 24535 36410 39145)								0.415929	137.702749	138.400496	47	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33711807	33711807	5099	20	T	A	A	A	700	54	EDEM2	3	3
MMP9	4318	broad.mit.edu	37	20	44639923	44639923	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44639923C>A	uc002xqz.2	+	c.791C>A	c.(790-792)ACC>AAC	p.T264N		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	264	Fibronectin type-II 1.				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				0.4	195.75349	197.329882	72	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44639923	44639923	10060	20	C	A	A	A	234	18	MMP9	2	2
PRIC285	85441	broad.mit.edu	37	20	62192981	62192981	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62192981C>T	uc002yfm.2	-	c.6809G>A	c.(6808-6810)CGG>CAG	p.R2270Q	PRIC285_uc002yfl.1_Missense_Mutation_p.R1701Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2270					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)											0.336336	290.755923	298.667082	112	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62192981	62192981	12928	20	C	T	T	T	299	23	PRIC285	1	1
C20orf103	24141	broad.mit.edu	37	20	9510440	9510440	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9510440C>A	uc002wni.1	+	c.816C>A	c.(814-816)GAC>GAA	p.D272E	C20orf103_uc010zrc.1_Missense_Mutation_p.D228E	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	chromosome 20 open reading frame 103 precursor	272	Cytoplasmic (Potential).					integral to membrane				lung(1)|breast(1)	2			COAD - Colon adenocarcinoma(9;0.194)											0.555556	98.153576	98.298482	30	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9510440	9510440	2151	20	C	A	A	A	220	17	C20orf103	2	2
DSCAM	1826	broad.mit.edu	37	21	41648050	41648050	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41648050C>T	uc002yyq.1	-	c.2330G>A	c.(2329-2331)AGC>AAC	p.S777N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	777	Extracellular (Potential).|Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.267857	40.297447	43.023738	15	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41648050	41648050	4952	21	C	T	T	T	364	28	DSCAM	2	2
UMODL1	89766	broad.mit.edu	37	21	43505485	43505485	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43505485C>G	uc002zag.1	+	c.566C>G	c.(565-567)CCC>CGC	p.P189R	UMODL1_uc002zad.1_Missense_Mutation_p.P117R|UMODL1_uc002zae.1_Missense_Mutation_p.P117R|UMODL1_uc002zaf.1_Missense_Mutation_p.P189R|UMODL1_uc010gow.1_5'UTR|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_5'UTR	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	189	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)	2						Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)								0.208955	139.583621	160.577547	56	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43505485	43505485	17538	21	C	G	G	G	286	22	UMODL1	3	3
SLC7A4	6545	broad.mit.edu	37	22	21384144	21384144	+	Silent	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21384144G>C	uc002zud.2	-	c.1479C>G	c.(1477-1479)GGC>GGG	p.G493G	SLC7A4_uc002zue.2_Silent_p.G493G	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	493	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.366197	86.531492	87.649216	26	45	KEEP	---	---	---	---	capture		Silent	SNP	21384144	21384144	15196	22	G	C	C	C	431	34	SLC7A4	3	3
CRYBA4	1413	broad.mit.edu	37	22	27021578	27021578	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:27021578G>T	uc003acz.3	+	c.292G>T	c.(292-294)GCC>TCC	p.A98S		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	98	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0														0.159184	65.297781	92.400689	39	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27021578	27021578	4048	22	G	T	T	T	546	42	CRYBA4	2	2
FAM83F	113828	broad.mit.edu	37	22	40417816	40417816	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40417816C>A	uc003ayk.1	+	c.1302C>A	c.(1300-1302)CCC>CCA	p.P434P		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	434										breast(1)	1														0.365854	37.602072	38.255269	15	26	KEEP	---	---	---	---	capture		Silent	SNP	40417816	40417816	5864	22	C	A	A	A	288	23	FAM83F	1	1
PARVB	29780	broad.mit.edu	37	22	44553945	44553945	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44553945G>A	uc003bem.2	+	c.1026G>A	c.(1024-1026)CCG>CCA	p.P342P	PARVB_uc003ben.2_Silent_p.P309P|PARVB_uc010gzn.2_Silent_p.P234P|PARVB_uc003beo.2_Silent_p.P272P	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	parvin, beta isoform a	309	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)												0.25	36.349325	39.303704	13	39	KEEP	---	---	---	---	capture		Silent	SNP	44553945	44553945	11886	22	G	A	A	A	496	39	PARVB	1	1
POTEE	445582	broad.mit.edu	37	2	132021859	132021859	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132021859A>T	uc002tsn.2	+	c.2831A>T	c.(2830-2832)GAT>GTT	p.D944V	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.D544V|POTEE_uc002tsl.2_Missense_Mutation_p.D526V|POTEE_uc010fmy.1_Missense_Mutation_p.D408V	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	944	Actin-like.						ATP binding				0														0.133333	41.660455	67.066845	26	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132021859	132021859	12694	2	A	T	T	T	156	12	POTEE	3	3
NCKAP5	344148	broad.mit.edu	37	2	133721313	133721313	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133721313C>A	uc002ttp.2	-	c.559G>T	c.(559-561)GAG>TAG	p.E187*	NCKAP5_uc002ttq.2_Nonsense_Mutation_p.E187*|NCKAP5_uc002tts.1_Nonsense_Mutation_p.E162*	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	187	Potential.						protein binding				0														0.369048	83.179592	84.454197	31	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	133721313	133721313	10622	2	C	A	A	A	416	32	NCKAP5	5	2
TPO	7173	broad.mit.edu	37	2	1497723	1497723	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1497723G>C	uc002qww.2	+	c.1918G>C	c.(1918-1920)GCT>CCT	p.A640P	TPO_uc010ewj.2_Non-coding_Transcript|TPO_uc002qwu.2_Missense_Mutation_p.A583P|TPO_uc002qwr.2_Missense_Mutation_p.A640P|TPO_uc002qwx.2_Missense_Mutation_p.A583P|TPO_uc010yio.1_Missense_Mutation_p.A467P|TPO_uc010yip.1_Missense_Mutation_p.A640P|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_Non-coding_Transcript	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	640	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.109375	18.949709	38.296237	14	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1497723	1497723	16954	2	G	C	C	C	442	34	TPO	3	3
LY75	4065	broad.mit.edu	37	2	160663639	160663639	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160663639C>A	uc002ubb.3	-	c.4835G>T	c.(4834-4836)AGT>ATT	p.S1612I	LY75_uc010fos.2_Intron|LY75_uc002ubc.3_Missense_Mutation_p.S1612I	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1612	Extracellular (Potential).|C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)										0.44	63.940244	64.097504	22	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160663639	160663639	9476	2	C	A	A	A	260	20	LY75	2	2
PXDN	7837	broad.mit.edu	37	2	1652348	1652348	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1652348C>A	uc002qxa.2	-	c.3204G>T	c.(3202-3204)GCG>GCT	p.A1068A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1068					extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)						2093				0.081395	1.158745	16.506061	7	79	KEEP	---	---	---	---	capture		Silent	SNP	1652348	1652348	13305	2	C	A	A	A	288	23	PXDN	1	1
GRB14	2888	broad.mit.edu	37	2	165364995	165364995	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165364995C>T	uc002ucl.2	-	c.993G>A	c.(991-993)ACG>ACA	p.T331T	GRB14_uc010zcv.1_Silent_p.T244T|GRB14_uc002ucm.2_Non-coding_Transcript	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	331	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|lung(1)	6														0.16	12.754979	18.284418	8	42	KEEP	---	---	---	---	capture		Silent	SNP	165364995	165364995	7034	2	C	T	T	T	236	19	GRB14	1	1
XIRP2	129446	broad.mit.edu	37	2	168107680	168107680	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168107680G>T	uc002udx.2	+	c.9778G>T	c.(9778-9780)GAG>TAG	p.E3260*	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E3085*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E3038*|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3085					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.252747	54.390031	59.436597	23	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	168107680	168107680	18011	2	G	T	T	T	429	33	XIRP2	5	2
LRP2	4036	broad.mit.edu	37	2	170101331	170101331	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170101331C>A	uc002ues.2	-	c.3302G>T	c.(3301-3303)TGC>TTC	p.C1101F	LRP2_uc010zdf.1_Missense_Mutation_p.C964F	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1101	LDL-receptor class A 9.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.252475	118.543343	129.77657	51	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170101331	170101331	9329	2	C	A	A	A	325	25	LRP2	2	2
COL5A2	1290	broad.mit.edu	37	2	189914102	189914102	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189914102T>A	uc002uqk.2	-	c.3118A>T	c.(3118-3120)AAT>TAT	p.N1040Y	COL5A2_uc010frx.2_Missense_Mutation_p.N616Y	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1040					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.647059	34.728475	35.052319	11	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189914102	189914102	3835	2	T	A	A	A	819	63	COL5A2	3	3
DNAH7	56171	broad.mit.edu	37	2	196834820	196834820	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196834820T>A	uc002utj.3	-	c.2059_splice	c.e17-1	p.L687_splice		NM_018897	NP_061720			dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.478261	69.152169	69.170681	22	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	196834820	196834820	4789	2	T	A	A	A	689	53	DNAH7	5	3
SATB2	23314	broad.mit.edu	37	2	200213530	200213530	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200213530G>T	uc002uuy.1	-	c.1067C>A	c.(1066-1068)TCT>TAT	p.S356Y	SATB2_uc010fsq.1_Missense_Mutation_p.S238Y|SATB2_uc002uuz.1_Missense_Mutation_p.S356Y|SATB2_uc002uva.1_Missense_Mutation_p.S356Y|SATB2_uc002uvb.1_Missense_Mutation_p.S99Y	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	356	CUT 1.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.210526	55.916248	66.237837	28	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200213530	200213530	14335	2	G	T	T	T	429	33	SATB2	2	2
MAP2	4133	broad.mit.edu	37	2	210561775	210561775	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210561775G>T	uc002vde.1	+	c.4522G>T	c.(4522-4524)GCA>TCA	p.A1508S	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1504S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1508					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|large_intestine(2)|pancreas(2)|central_nervous_system(1)	14		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	Pancreas(27;423 979 28787 29963)								0.539216	174.228242	174.364179	55	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210561775	210561775	9618	2	G	T	T	T	455	35	MAP2	2	2
SPAG16	79582	broad.mit.edu	37	2	214215278	214215278	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:214215278A>T	uc002veq.2	+	c.671A>T	c.(670-672)GAA>GTA	p.E224V	SPAG16_uc010fuz.1_Missense_Mutation_p.E75V|SPAG16_uc002ver.2_Missense_Mutation_p.E170V|SPAG16_uc010zjk.1_Missense_Mutation_p.E130V|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.E193V	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	224	Potential.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)	1		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.444444	46.695074	46.791864	16	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214215278	214215278	15481	2	A	T	T	T	117	9	SPAG16	3	3
SP140L	93349	broad.mit.edu	37	2	231264881	231264881	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231264881G>T	uc010fxm.1	+	c.1237G>T	c.(1237-1239)GGG>TGG	p.G413W	SP140L_uc010fxo.1_Missense_Mutation_p.G185W	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	413	PHD-type; degenerate.					nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.428571	170.950103	171.577939	60	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231264881	231264881	15463	2	G	T	T	T	455	35	SP140L	2	2
ALPP	250	broad.mit.edu	37	2	233244348	233244348	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233244348G>A	uc002vsq.2	+	c.435G>A	c.(433-435)ACG>ACA	p.T145T	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	145						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)										0.190476	16.675362	20.437383	8	34	KEEP	---	---	---	---	capture		Silent	SNP	233244348	233244348	551	2	G	A	A	A	470	37	ALPP	1	1
OTOS	150677	broad.mit.edu	37	2	241079494	241079494	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241079494C>A	uc002vyv.2	-	c.70G>T	c.(70-72)GTG>TTG	p.V24L		NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	otospiralin precursor	24						extracellular region					0		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)										0.392405	91.730117	92.523025	31	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241079494	241079494	11721	2	C	A	A	A	221	17	OTOS	2	2
KIF1A	547	broad.mit.edu	37	2	241700155	241700155	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241700155G>T	uc010fzk.2	-	c.2371C>A	c.(2371-2373)CGC>AGC	p.R791S	KIF1A_uc002vzy.2_Missense_Mutation_p.R782S|KIF1A_uc002vzz.1_Missense_Mutation_p.R791S	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	782					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)										0.6	40.905075	41.080537	12	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241700155	241700155	8594	2	G	T	T	T	507	39	KIF1A	1	1
NEU4	129807	broad.mit.edu	37	2	242757908	242757908	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242757908C>A	uc002wcn.1	+	c.1025C>A	c.(1024-1026)CCT>CAT	p.P342H	NEU4_uc002wcl.2_Non-coding_Transcript|NEU4_uc010fzr.2_Missense_Mutation_p.P330H|NEU4_uc002wcm.2_Missense_Mutation_p.P330H|NEU4_uc002wco.1_Missense_Mutation_p.P330H|NEU4_uc002wcp.1_Missense_Mutation_p.P342H	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	330	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)										0.4	15.545604	15.67707	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242757908	242757908	10743	2	C	A	A	A	312	24	NEU4	2	2
NCOA1	8648	broad.mit.edu	37	2	24920627	24920627	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24920627G>T	uc002rfk.2	+	c.909G>T	c.(907-909)CAG>CAT	p.Q303H	NCOA1_uc010eye.2_Missense_Mutation_p.Q303H|NCOA1_uc002rfi.2_Missense_Mutation_p.Q152H|NCOA1_uc002rfj.2_Missense_Mutation_p.Q303H|NCOA1_uc002rfl.2_Missense_Mutation_p.Q303H	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	303									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)									334				0.246914	98.017038	107.46438	40	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24920627	24920627	10627	2	G	T	T	T	451	35	NCOA1	2	2
GALNT14	79623	broad.mit.edu	37	2	31360856	31360856	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31360856C>A	uc002rns.2	-	c.97G>T	c.(97-99)GTG>TTG	p.V33L	GALNT14_uc002rnr.2_Missense_Mutation_p.V33L|GALNT14_uc010ymr.1_5'UTR|GALNT14_uc010ezo.1_Missense_Mutation_p.V33L|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	33	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Acute lymphoblastic leukemia(172;0.155)													0.175	26.997705	34.976865	14	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31360856	31360856	6476	2	C	A	A	A	234	18	GALNT14	2	2
XDH	7498	broad.mit.edu	37	2	31588955	31588955	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31588955C>T	uc002rnv.1	-	c.2343G>A	c.(2341-2343)TTG>TTA	p.L781L		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	781					oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.111111	34.511222	76.238741	31	248	KEEP	---	---	---	---	capture		Silent	SNP	31588955	31588955	18007	2	C	T	T	T	272	21	XDH	2	2
DHX57	90957	broad.mit.edu	37	2	39050219	39050219	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39050219G>T	uc002rrf.2	-	c.3207C>A	c.(3205-3207)GGC>GGA	p.G1069G	DHX57_uc002rrd.3_Silent_p.G453G|DHX57_uc002rre.2_Silent_p.G502G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1069							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)	2		all_hematologic(82;0.248)				Melanoma(191;1090 2095 4375 23729 47341)								0.169231	41.174075	54.635149	22	108	KEEP	---	---	---	---	capture		Silent	SNP	39050219	39050219	4692	2	G	T	T	T	587	46	DHX57	2	2
SLC8A1	6546	broad.mit.edu	37	2	40656143	40656143	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40656143G>T	uc002rrx.2	-	c.1278C>A	c.(1276-1278)GCC>GCA	p.A426A	SLC8A1_uc002rry.2_Silent_p.A426A|SLC8A1_uc002rrz.2_Silent_p.A426A|SLC8A1_uc002rsa.2_Silent_p.A426A|SLC8A1_uc002rsd.3_Silent_p.A426A|SLC8A1_uc002rsb.1_Silent_p.A426A|SLC8A1_uc010fan.1_Silent_p.A426A|SLC8A1_uc002rsc.1_Silent_p.A426A	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	426	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.20155	51.065412	61.757606	26	103	KEEP	---	---	---	---	capture		Silent	SNP	40656143	40656143	15203	2	G	T	T	T	548	43	SLC8A1	2	2
NRXN1	9378	broad.mit.edu	37	2	50765556	50765556	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50765556C>A	uc010fbq.2	-	c.2098G>T	c.(2098-2100)GCT>TCT	p.A700S	NRXN1_uc002rxb.3_Missense_Mutation_p.A332S|NRXN1_uc002rxe.3_Missense_Mutation_p.A660S|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.151568	140.625914	207.401418	87	487	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50765556	50765556	11070	2	C	A	A	A	338	26	NRXN1	2	2
THNSL2	55258	broad.mit.edu	37	2	88484982	88484982	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88484982G>T	uc002ssz.3	+	c.1213G>T	c.(1213-1215)GAC>TAC	p.D405Y	THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Intron|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.D405Y|THNSL2_uc010fhe.2_Intron	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	405					threonine biosynthetic process		threonine synthase activity			ovary(1)	1														0.277778	11.865521	12.666562	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88484982	88484982	16391	2	G	T	T	T	429	33	THNSL2	2	2
CCDC54	84692	broad.mit.edu	37	3	107097226	107097226	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:107097226T>G	uc003dwi.1	+	c.792T>G	c.(790-792)AGT>AGG	p.S264R		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	264											0														0.412903	229.585776	230.609155	64	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107097226	107097226	2947	3	T	G	G	G	764	59	CCDC54	4	4
TRAT1	50852	broad.mit.edu	37	3	108557802	108557802	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108557802G>T	uc003dxi.1	+	c.140G>T	c.(139-141)AGT>ATT	p.S47I	TRAT1_uc010hpx.1_Missense_Mutation_p.S10I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	47	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity				0														0.414634	102.832828	103.355326	34	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108557802	108557802	17010	3	G	T	T	T	468	36	TRAT1	2	2
GRAMD1C	54762	broad.mit.edu	37	3	113563429	113563429	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113563429A>G	uc003eaq.3	+	c.107A>G	c.(106-108)GAG>GGG	p.E36G	GRAMD1C_uc011bil.1_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	36						integral to membrane				ovary(2)	2														0.229268	136.001041	149.799893	47	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113563429	113563429	7025	3	A	G	G	G	143	11	GRAMD1C	4	4
PLA1A	51365	broad.mit.edu	37	3	119344001	119344001	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119344001A>T	uc003ecu.2	+	c.1043A>T	c.(1042-1044)AAG>ATG	p.K348M	PLA1A_uc003ecv.2_Missense_Mutation_p.K332M|PLA1A_uc003ecw.2_Non-coding_Transcript|PLA1A_uc011bjc.1_Missense_Mutation_p.K175M	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	348					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			ovary(1)|central_nervous_system(1)	2														0.16	29.533377	40.544664	16	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119344001	119344001	12414	3	A	T	T	T	39	3	PLA1A	3	3
MCM2	4171	broad.mit.edu	37	3	127337904	127337904	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:127337904A>G	uc003ejp.2	+	c.2048A>G	c.(2047-2049)CAC>CGC	p.H683R	MCM2_uc011bkm.1_Missense_Mutation_p.H553R|MCM2_uc010hsl.2_Non-coding_Transcript|MCM2_uc011bkn.1_Missense_Mutation_p.H636R	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	683					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4														0.482759	41.062208	41.068728	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127337904	127337904	9775	3	A	G	G	G	78	6	MCM2	4	4
CLDN18	51208	broad.mit.edu	37	3	137717810	137717810	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137717810G>A	uc003ero.1	+	c.100G>A	c.(100-102)GAC>AAC	p.D34N		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	34	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.D34N(1)		ovary(1)	1														0.160377	63.840635	87.252359	34	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137717810	137717810	3615	3	G	A	A	A	429	33	CLDN18	2	2
CLSTN2	64084	broad.mit.edu	37	3	140285094	140285094	+	Nonstop_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140285094A>G	uc003etn.2	+	c.2867A>G	c.(2866-2868)TAG>TGG	p.*956W		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	956					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.625	16.972846	17.081802	5	3	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	140285094	140285094	3700	3	A	G	G	G	195	15	CLSTN2	5	4
PCOLCE2	26577	broad.mit.edu	37	3	142567166	142567166	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142567166G>A	uc003evd.2	-	c.341C>T	c.(340-342)GCC>GTC	p.A114V		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	114	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)	2														0.277228	67.658768	72.169375	28	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142567166	142567166	12015	3	G	A	A	A	546	42	PCOLCE2	2	2
ZIC4	84107	broad.mit.edu	37	3	147108911	147108911	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147108911A>T	uc011bno.1	-	c.961T>A	c.(961-963)TGC>AGC	p.C321S	ZIC4_uc003ewc.1_Missense_Mutation_p.C201S|ZIC4_uc003ewd.1_Missense_Mutation_p.C271S	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	271	C2H2-type 5.					nucleus	DNA binding|zinc ion binding				0														0.436364	71.892047	72.086003	24	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147108911	147108911	18272	3	A	T	T	T	91	7	ZIC4	3	3
GMPS	8833	broad.mit.edu	37	3	155649598	155649598	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155649598A>T	uc003faq.2	+	c.1605A>T	c.(1603-1605)AAA>AAT	p.K535N	GMPS_uc011bom.1_Missense_Mutation_p.K436N	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	535					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				0.362069	236.725966	240.614525	84	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155649598	155649598	6767	3	A	T	T	T	37	3	GMPS	3	3
GALNTL2	117248	broad.mit.edu	37	3	16254188	16254188	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:16254188G>A	uc003car.3	+	c.1310G>A	c.(1309-1311)AGG>AAG	p.R437K	GALNTL2_uc003caq.3_Missense_Mutation_p.R170K	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	437	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1														0.503497	235.719654	235.720567	72	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16254188	16254188	6486	3	G	A	A	A	455	35	GALNTL2	2	2
GOLIM4	27333	broad.mit.edu	37	3	167761282	167761282	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167761282G>A	uc011bpe.1	-	c.402C>T	c.(400-402)GAC>GAT	p.D134D	GOLIM4_uc003ffe.2_Silent_p.D134D|GOLIM4_uc011bpf.1_Silent_p.D134D|GOLIM4_uc011bpg.1_Silent_p.D134D	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	134	Endosome targeting.|Potential.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)	4														0.168317	68.513732	89.571772	34	168	KEEP	---	---	---	---	capture		Silent	SNP	167761282	167761282	6839	3	G	A	A	A	464	36	GOLIM4	2	2
LAMP3	27074	broad.mit.edu	37	3	182870212	182870212	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182870212T>A	uc003flh.3	-	c.839A>T	c.(838-840)AAC>ATC	p.N280I		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	280	Lumenal (Potential).				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)											0.388614	455.484835	459.874654	157	247	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182870212	182870212	8942	3	T	A	A	A	780	60	LAMP3	3	3
ABCC5	10057	broad.mit.edu	37	3	183669353	183669353	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183669353C>T	uc003fmg.2	-	c.2820G>A	c.(2818-2820)ACG>ACA	p.T940T	ABCC5_uc011bqt.1_Silent_p.T468T|ABCC5_uc010hxl.2_Silent_p.T940T	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	940	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.128049	27.859569	49.977187	21	143	KEEP	---	---	---	---	capture		Silent	SNP	183669353	183669353	57	3	C	T	T	T	340	27	ABCC5	1	1
KCNH8	131096	broad.mit.edu	37	3	19575003	19575003	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19575003C>T	uc003cbk.1	+	c.2736C>T	c.(2734-2736)AGC>AGT	p.S912S	KCNH8_uc010hex.1_Silent_p.S373S	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	912	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.5	132.537888	132.537888	46	46	KEEP	---	---	---	---	capture		Silent	SNP	19575003	19575003	8343	3	C	T	T	T	324	25	KCNH8	2	2
LRCH3	84859	broad.mit.edu	37	3	197598238	197598238	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:197598238G>T	uc011bul.1	+	c.2035G>T	c.(2035-2037)GGA>TGA	p.G679*	LRCH3_uc003fyj.1_Nonsense_Mutation_p.G679*|LRCH3_uc011bum.1_Nonsense_Mutation_p.G627*|LRCH3_uc011bun.1_Nonsense_Mutation_p.G525*|LRCH3_uc003fyk.2_Nonsense_Mutation_p.G274*	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	679	CH.					extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)										0.184915	174.571139	212.820373	76	335	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	197598238	197598238	9307	3	G	T	T	T	507	39	LRCH3	5	1
ZNF660	285349	broad.mit.edu	37	3	44636480	44636480	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44636480G>C	uc003cnl.1	+	c.795G>C	c.(793-795)CAG>CAC	p.Q265H		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	265	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)										0.2	40.908163	46.767745	14	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44636480	44636480	18665	3	G	C	C	C	425	33	ZNF660	3	3
PRSS50	29122	broad.mit.edu	37	3	46757060	46757060	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46757060G>A	uc003cqe.1	-	c.435C>T	c.(433-435)TCC>TCT	p.S145S	PRSS50_uc003cqf.1_Silent_p.S59S	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	145	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						Pancreas(41;915 1239 11561 17469)								0.205479	38.083097	43.955834	15	58	KEEP	---	---	---	---	capture		Silent	SNP	46757060	46757060	13082	3	G	A	A	A	548	43	PRSS50	2	2
KIF9	64147	broad.mit.edu	37	3	47305841	47305841	+	Splice_Site_SNP	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47305841C>G	uc010hjp.2	-	c.917_splice	c.e10-1	p.G306_splice	KIF9_uc003cqx.2_Splice_Site_SNP_p.G306_splice|KIF9_uc003cqy.2_Splice_Site_SNP_p.G306_splice|KIF9_uc011bat.1_Splice_Site_SNP|KIF9_uc011bau.1_Splice_Site_SNP	NM_001134878	NP_001128350			kinesin family member 9 isoform 2						blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		Colon(44;962 1147 15977 24541)								0.25	97.981658	105.709517	34	102	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47305841	47305841	8621	3	C	G	G	G	312	24	KIF9	5	3
USP19	10869	broad.mit.edu	37	3	49151718	49151718	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49151718C>A	uc011bch.1	-	c.2287_splice	c.e16-1	p.V763_splice	USP19_uc003cwa.2_Splice_Site_SNP_p.V470_splice|USP19_uc003cvz.3_Splice_Site_SNP_p.V765_splice|USP19_uc011bcg.1_Splice_Site_SNP_p.V753_splice|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Splice_Site_SNP_p.V420_splice|USP19_uc003cwd.1_Splice_Site_SNP_p.V662_splice	NM_006677	NP_006668			ubiquitin thioesterase 19						proteasomal ubiquitin-dependent protein catabolic process	endoplasmic reticulum membrane|integral to membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(4)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.247788	65.339704	71.884422	28	85	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	49151718	49151718	17613	3	C	A	A	A	312	24	USP19	5	2
EPHA6	285220	broad.mit.edu	37	3	97167440	97167440	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97167440C>A	uc010how.1	+	c.1760C>A	c.(1759-1761)ACA>AAA	p.T587K	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	492	Fibronectin type-III 2.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.392405	97.806536	98.607823	31	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97167440	97167440	5364	3	C	A	A	A	221	17	EPHA6	2	2
TTLL3	26140	broad.mit.edu	37	3	9854722	9854722	+	Silent	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9854722A>T	uc003btg.2	+	c.144A>T	c.(142-144)TCA>TCT	p.S48S	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Silent_p.S48S|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_5'Flank|TTLL3_uc003bth.3_5'Flank	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	48					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)													0.177778	33.445038	42.244764	16	74	KEEP	---	---	---	---	capture		Silent	SNP	9854722	9854722	17283	3	A	T	T	T	80	7	TTLL3	3	3
NHEDC1	150159	broad.mit.edu	37	4	103870474	103870474	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103870474C>A	uc003hww.2	-	c.322G>T	c.(322-324)GGG>TGG	p.G108W	NHEDC1_uc003hwu.2_Missense_Mutation_p.G108W|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	108	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)										0.115385	7.309917	14.888405	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103870474	103870474	10800	4	C	A	A	A	273	21	NHEDC1	2	2
PCDH18	54510	broad.mit.edu	37	4	138451033	138451033	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138451033C>A	uc003ihe.3	-	c.2210G>T	c.(2209-2211)AGG>ATG	p.R737M	PCDH18_uc003ihf.3_Missense_Mutation_p.R730M|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.R517M|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	737	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.383721	89.444196	90.46651	33	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138451033	138451033	11933	4	C	A	A	A	312	24	PCDH18	2	2
ARFIP1	27236	broad.mit.edu	37	4	153750861	153750861	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153750861G>T	uc003imz.2	+	c.76G>T	c.(76-78)GAA>TAA	p.E26*	ARFIP1_uc003inb.2_Nonsense_Mutation_p.E26*|ARFIP1_uc003ina.2_Nonsense_Mutation_p.E26*|ARFIP1_uc003inc.2_Nonsense_Mutation_p.E26*|ARFIP1_uc011cij.1_Nonsense_Mutation_p.E26*	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	26					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane				ovary(1)	1	all_hematologic(180;0.093)													0.25974	46.458319	50.488304	20	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153750861	153750861	865	4	G	T	T	T	585	45	ARFIP1	5	2
DCHS2	54798	broad.mit.edu	37	4	155161691	155161691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155161691G>A	uc003inw.2	-	c.5992C>T	c.(5992-5994)CAG>TAG	p.Q1998*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1998	Cadherin 18.				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)										0.272727	23.259114	24.796363	9	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	155161691	155161691	4459	4	G	A	A	A	585	45	DCHS2	5	2
DCHS2	54798	broad.mit.edu	37	4	155226292	155226293	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155226292_155226293GG>TT	uc003inw.2	-	c.3986_3987CC>AA	c.(3985-3987)ACC>AAA	p.T1329K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1329	Cadherin 11.				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)										0.235294	10.59068	11.680468	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	155226292	155226293	4459	4	GG	TT	TT	TT	600	47	DCHS2	2	2
SH3RF1	57630	broad.mit.edu	37	4	170077704	170077704	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170077704C>T	uc003isa.1	-	c.520G>A	c.(520-522)GGG>AGG	p.G174R	SH3RF1_uc010irc.1_5'UTR	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	174	SH3 1.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(1)	1		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)										0.270492	82.713192	88.515332	33	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170077704	170077704	14750	4	C	T	T	T	273	21	SH3RF1	2	2
SCRG1	11341	broad.mit.edu	37	4	174312327	174312327	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174312327G>T	uc003ite.2	-	c.239C>A	c.(238-240)CCA>CAA	p.P80Q	SCRG1_uc003itf.2_Non-coding_Transcript	NM_007281	NP_009212	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1 precursor	80					nervous system development	extracellular space					0		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)										0.284483	88.723954	93.562685	33	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174312327	174312327	14418	4	G	T	T	T	611	47	SCRG1	2	2
WWC2	80014	broad.mit.edu	37	4	184182214	184182214	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:184182214G>T	uc010irx.2	+	c.1438G>T	c.(1438-1440)GTG>TTG	p.V480L	WWC2_uc003ivk.3_Missense_Mutation_p.V275L|WWC2_uc003ivl.3_Non-coding_Transcript|WWC2_uc010iry.2_Missense_Mutation_p.V162L|WWC2_uc003ivn.3_Missense_Mutation_p.V44L	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	480										ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)										0.205128	19.076442	22.223092	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184182214	184182214	17986	4	G	T	T	T	624	48	WWC2	2	2
RGS12	6002	broad.mit.edu	37	4	3432320	3432320	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3432320G>T	uc003ggw.2	+	c.3752G>T	c.(3751-3753)CGG>CTG	p.R1251L	RGS12_uc003ggv.2_Missense_Mutation_p.R1251L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.R603L|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.R593L|RGS12_uc010icv.2_Missense_Mutation_p.R450L	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1251						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.52381	32.424215	32.434512	11	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3432320	3432320	13769	4	G	T	T	T	507	39	RGS12	1	1
CSN1S1	1446	broad.mit.edu	37	4	70804920	70804920	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70804920G>A	uc003hep.1	+	c.270G>A	c.(268-270)TCG>TCA	p.S90S	CSN1S1_uc003heq.1_Silent_p.S89S|CSN1S1_uc003her.1_Silent_p.S90S	NM_001890	NP_001881	P47710	CASA1_HUMAN	casein alpha s1 isoform 1	90						extracellular region	protein binding|transporter activity				0														0.142857	14.830564	22.575778	9	54	KEEP	---	---	---	---	capture		Silent	SNP	70804920	70804920	4088	4	G	A	A	A	470	37	CSN1S1	1	1
GPRIN3	285513	broad.mit.edu	37	4	90169061	90169061	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90169061G>T	uc003hsm.1	-	c.2201C>A	c.(2200-2202)TCC>TAC	p.S734Y		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	734										ovary(2)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)										0.202797	116.578792	140.053981	58	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90169061	90169061	7007	4	G	T	T	T	533	41	GPRIN3	2	2
SLCO6A1	133482	broad.mit.edu	37	5	101735314	101735314	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:101735314A>G	uc003knn.2	-	c.1759T>C	c.(1759-1761)TCT>CCT	p.S587P	SLCO6A1_uc003kno.2_Missense_Mutation_p.S334P|SLCO6A1_uc003knp.2_Missense_Mutation_p.S587P|SLCO6A1_uc003knq.2_Missense_Mutation_p.S525P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	587	Helical; Name=10; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)										0.184211	18.603842	22.15753	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101735314	101735314	15229	5	A	G	G	G	117	9	SLCO6A1	4	4
PCDHGB5	56101	broad.mit.edu	37	5	140779851	140779851	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140779851C>T	uc003lkf.1	+	c.2157C>T	c.(2155-2157)GCC>GCT	p.A719A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.A719A|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	719	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.577519	497.609073	498.962386	149	109	KEEP	---	---	---	---	capture		Silent	SNP	140779851	140779851	11986	5	C	T	T	T	301	24	PCDHGB5	2	2
ADAM19	8728	broad.mit.edu	37	5	156920037	156920037	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156920037C>A	uc003lwz.2	-	c.1852G>T	c.(1852-1854)GGT>TGT	p.G618C	ADAM19_uc003lww.1_Missense_Mutation_p.G351C|ADAM19_uc003lwy.2_Missense_Mutation_p.G217C|ADAM19_uc011ddr.1_Missense_Mutation_p.G549C	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	618	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.367925	104.686982	106.316214	39	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156920037	156920037	241	5	C	A	A	A	286	22	ADAM19	2	2
LRRC14B	389257	broad.mit.edu	37	5	194952	194952	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:194952G>A	uc003jal.1	+	c.1029G>A	c.(1027-1029)CTG>CTA	p.L343L		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	343	LRR 3.									skin(1)	1														0.272727	9.020414	9.532314	3	8	KEEP	---	---	---	---	capture		Silent	SNP	194952	194952	9343	5	G	A	A	A	600	47	LRRC14B	2	2
PDZD2	23037	broad.mit.edu	37	5	32048790	32048790	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32048790G>A	uc003jhl.2	+	c.1665G>A	c.(1663-1665)CAG>CAA	p.Q555Q	PDZD2_uc003jhm.2_Silent_p.Q555Q|PDZD2_uc011cnx.1_Silent_p.Q381Q	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	555					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.460177	165.257175	165.415979	52	61	KEEP	---	---	---	---	capture		Silent	SNP	32048790	32048790	12122	5	G	A	A	A	451	35	PDZD2	2	2
C1QTNF3	114899	broad.mit.edu	37	5	34043079	34043079	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34043079C>A	uc003jio.2	-	c.152G>T	c.(151-153)GGC>GTC	p.G51V	C1QTNF3_uc003jin.2_Intron	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	Error:Variant_position_missing_in_Q9BXJ4_after_alignment						collagen					0	all_lung(31;0.0207)													0.642612	569.494531	574.719875	187	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34043079	34043079	2031	5	C	A	A	A	338	26	C1QTNF3	2	2
SKP2	6502	broad.mit.edu	37	5	36152994	36152994	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36152994G>C	uc003jkc.1	+	c.130G>C	c.(130-132)GAG>CAG	p.E44Q	SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Missense_Mutation_p.E44Q|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)	3	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)							161				0.474747	162.603504	162.658922	47	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36152994	36152994	14857	5	G	C	C	C	429	33	SKP2	3	3
ADAMTS16	170690	broad.mit.edu	37	5	5235286	5235286	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5235286C>A	uc003jdl.2	+	c.2010C>A	c.(2008-2010)TAC>TAA	p.Y670*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Y670*|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	670	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.311111	79.76429	82.625427	28	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5235286	5235286	262	5	C	A	A	A	220	17	ADAMTS16	5	2
CDK7	1022	broad.mit.edu	37	5	68531237	68531237	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:68531237A>G	uc003jvs.3	+	c.83A>G	c.(82-84)AAG>AGG	p.K28R	CDK7_uc010ixd.1_Missense_Mutation_p.K28R|CDK7_uc003jvt.3_5'UTR|CDK7_uc003jvu.3_5'UTR	NM_001799	NP_001790	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	28	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			lung(1)	1		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)						197				0.12	23.428825	37.592001	12	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68531237	68531237	3278	5	A	G	G	G	39	3	CDK7	4	4
BDP1	55814	broad.mit.edu	37	5	70812006	70812006	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70812006C>G	uc003kbp.1	+	c.4768C>G	c.(4768-4770)CAA>GAA	p.Q1590E	BDP1_uc003kbo.2_Missense_Mutation_p.Q1590E	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1590					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)										0.1875	8.715328	10.178248	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70812006	70812006	1417	5	C	G	G	G	325	25	BDP1	3	3
CMYA5	202333	broad.mit.edu	37	5	79029481	79029481	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79029481G>T	uc003kgc.2	+	c.4893G>T	c.(4891-4893)CCG>CCT	p.P1631P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1631						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)										0.215385	36.215315	41.07379	14	51	KEEP	---	---	---	---	capture		Silent	SNP	79029481	79029481	3728	5	G	T	T	T	509	40	CMYA5	1	1
TMEM200A	114801	broad.mit.edu	37	6	130762171	130762171	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130762171G>T	uc003qca.2	+	c.604G>T	c.(604-606)GCC>TCC	p.A202S	TMEM200A_uc010kfh.2_Missense_Mutation_p.A202S|TMEM200A_uc010kfi.2_Missense_Mutation_p.A202S|TMEM200A_uc003qcb.2_Missense_Mutation_p.A202S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	202	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)						66				0.304348	37.035714	38.60525	14	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130762171	130762171	16658	6	G	T	T	T	598	46	TMEM200A	2	2
WTAP	9589	broad.mit.edu	37	6	160176630	160176630	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160176630G>T	uc003qsl.2	+	c.1178G>T	c.(1177-1179)GGT>GTT	p.G393V	WTAP_uc003qso.2_Missense_Mutation_p.G274V	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	393					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)										0.232558	24.525527	27.343684	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160176630	160176630	17983	6	G	T	T	T	572	44	WTAP	2	2
SLC17A4	10050	broad.mit.edu	37	6	25776840	25776840	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25776840C>T	uc003nfe.2	+	c.1005C>T	c.(1003-1005)GCC>GCT	p.A335A	SLC17A4_uc011djx.1_Silent_p.A105A|SLC17A4_uc003nff.1_Silent_p.A96A|SLC17A4_uc003nfg.2_Silent_p.A272A|SLC17A4_uc010jqa.2_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	335	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity				0														0.40604	388.21916	390.518205	121	177	KEEP	---	---	---	---	capture		Silent	SNP	25776840	25776840	14915	6	C	T	T	T	301	24	SLC17A4	2	2
SLC17A3	10786	broad.mit.edu	37	6	25861926	25861926	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25861926C>T	uc003nfk.3	-	c.551G>A	c.(550-552)GGG>GAG	p.G184E	SLC17A3_uc003nfi.3_Missense_Mutation_p.G106E|SLC17A3_uc011djz.1_Missense_Mutation_p.G184E|SLC17A3_uc011dka.1_Missense_Mutation_p.G106E	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	106					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														0.234146	113.031456	126.272435	48	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25861926	25861926	14914	6	C	T	T	T	286	22	SLC17A3	2	2
OR2J2	26707	broad.mit.edu	37	6	29142178	29142178	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29142178G>T	uc011dlm.1	+	c.766G>T	c.(766-768)GTC>TTC	p.V256F		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	256	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.302083	160.457527	167.184292	58	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29142178	29142178	11409	6	G	T	T	T	468	36	OR2J2	2	2
C6orf136	221545	broad.mit.edu	37	6	30617664	30617664	+	Silent	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30617664C>G	uc003nqx.3	+	c.945C>G	c.(943-945)TCC>TCG	p.S315S	C6orf136_uc003nqw.3_Silent_p.S134S|C6orf136_uc011dmn.1_Intron	NM_001161376	NP_001154848	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 3	134											0														0.383085	200.055626	202.516348	77	124	KEEP	---	---	---	---	capture		Silent	SNP	30617664	30617664	2434	6	C	G	G	G	275	22	C6orf136	3	3
C6orf15	29113	broad.mit.edu	37	6	31079232	31079232	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31079232G>T	uc003nsk.1	-	c.904C>A	c.(904-906)CGC>AGC	p.R302S		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	302	Pro-rich.										0														0.149606	35.646486	50.593847	19	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31079232	31079232	2440	6	G	T	T	T	507	39	C6orf15	1	1
NOTCH4	4855	broad.mit.edu	37	6	32190540	32190540	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32190540G>T	uc003obb.2	-	c.199C>A	c.(199-201)CCC>ACC	p.P67T	NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript|NOTCH4_uc003obc.2_Missense_Mutation_p.P67T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	67	Extracellular (Potential).|EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.343434	91.616437	93.761567	34	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32190540	32190540	10954	6	G	T	T	T	559	43	NOTCH4	2	2
SCUBE3	222663	broad.mit.edu	37	6	35210036	35210036	+	Silent	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35210036A>G	uc003okf.1	+	c.1473A>G	c.(1471-1473)AAA>AAG	p.K491K	SCUBE3_uc003okg.1_Silent_p.K490K|SCUBE3_uc003okh.1_Silent_p.K378K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	491					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1														0.168168	135.759015	170.435991	56	277	KEEP	---	---	---	---	capture		Silent	SNP	35210036	35210036	14429	6	A	G	G	G	50	4	SCUBE3	4	4
DNAH8	1769	broad.mit.edu	37	6	38976690	38976690	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38976690T>C	uc003ooe.1	+	c.12664T>C	c.(12664-12666)TAT>CAT	p.Y4222H		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	4222					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.298246	282.98257	293.340867	85	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38976690	38976690	4790	6	T	C	C	C	793	61	DNAH8	4	4
C6orf138	442213	broad.mit.edu	37	6	47976507	47976507	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47976507C>G	uc011dwm.1	-	c.719G>C	c.(718-720)TGC>TCC	p.C240S	C6orf138_uc011dwn.1_Missense_Mutation_p.C4S|C6orf138_uc003ozf.2_Missense_Mutation_p.C257S	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	257	SSD.					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.326087	51.909599	53.143627	15	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47976507	47976507	2435	6	C	G	G	G	325	25	C6orf138	3	3
MUT	4594	broad.mit.edu	37	6	49412454	49412454	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49412454C>A	uc003ozg.3	-	c.1574G>T	c.(1573-1575)AGG>ATG	p.R525M		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	525					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.27	65.773846	70.551522	27	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49412454	49412454	10385	6	C	A	A	A	312	24	MUT	2	2
MUT	4594	broad.mit.edu	37	6	49425722	49425722	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49425722G>A	uc003ozg.3	-	c.435C>T	c.(433-435)GGC>GGT	p.G145G		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	145			G -> S (in MMAM; mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.298507	55.071037	57.50398	20	47	KEEP	---	---	---	---	capture		Silent	SNP	49425722	49425722	10385	6	G	A	A	A	431	34	MUT	2	2
EFHC1	114327	broad.mit.edu	37	6	52344532	52344532	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52344532G>T	uc003pap.3	+	c.1587G>T	c.(1585-1587)GCG>GCT	p.A529A	EFHC1_uc011dwv.1_Silent_p.A438A|EFHC1_uc011dww.1_Silent_p.A510A	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	529						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)	2	Lung NSC(77;0.109)													0.135417	22.810148	35.172725	13	83	KEEP	---	---	---	---	capture		Silent	SNP	52344532	52344532	5134	6	G	T	T	T	509	40	EFHC1	1	1
DST	667	broad.mit.edu	37	6	56328479	56328479	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56328479G>C	uc003pdf.2	-	c.16414C>G	c.(16414-16416)CGA>GGA	p.R5472G	DST_uc003pcz.3_Missense_Mutation_p.R5294G|DST_uc011dxj.1_Missense_Mutation_p.R5323G|DST_uc011dxk.1_Missense_Mutation_p.R5334G|DST_uc003pcy.3_Missense_Mutation_p.R4968G|DST_uc003pcv.3_Missense_Mutation_p.R90G|DST_uc003pcw.3_Missense_Mutation_p.R51G|DST_uc003pcx.3_Missense_Mutation_p.R51G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7404					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.330317	230.354607	236.018622	73	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56328479	56328479	4967	6	G	C	C	C	506	39	DST	3	3
DST	667	broad.mit.edu	37	6	56507224	56507224	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56507224C>T	uc003pdf.2	-	c.1757G>A	c.(1756-1758)GGA>GAA	p.G586E	DST_uc003pcz.3_Missense_Mutation_p.G408E|DST_uc011dxj.1_Missense_Mutation_p.G437E|DST_uc011dxk.1_Missense_Mutation_p.G448E|DST_uc011dxl.1_Missense_Mutation_p.G437E|DST_uc003pcy.3_Missense_Mutation_p.G82E|DST_uc003pdb.2_Missense_Mutation_p.G82E|DST_uc003pdc.3_Missense_Mutation_p.G82E|DST_uc003pdd.3_Missense_Mutation_p.G82E|DST_uc003pde.2_Missense_Mutation_p.G524E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	408					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)						p.G82E(MEWO-Tumor)	2498				0.362637	94.746704	96.259041	33	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56507224	56507224	4967	6	C	T	T	T	390	30	DST	2	2
PRIM2	5558	broad.mit.edu	37	6	57512590	57512590	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:57512590C>A	uc003pdx.2	+	c.1418C>A	c.(1417-1419)CCC>CAC	p.P473H		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	473					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)										0.071739	-14.953217	71.913811	33	427	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57512590	57512590	12934	6	C	A	A	A	286	22	PRIM2	2	2
BAI3	577	broad.mit.edu	37	6	69759195	69759195	+	Missense_Mutation	SNP	G	T	T	rs112866971		TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69759195G>T	uc003pev.3	+	c.2290G>T	c.(2290-2292)GCA>TCA	p.A764S	BAI3_uc010kak.2_Missense_Mutation_p.A764S	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	764	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.25	11.392694	12.301316	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69759195	69759195	1321	6	G	T	T	T	494	38	BAI3	1	1
SH3BGRL2	83699	broad.mit.edu	37	6	80383467	80383467	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80383467A>C	uc003piz.1	+	c.182A>C	c.(181-183)CAG>CCG	p.Q61P		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein	61	SH3-binding (Potential).					nucleus	SH3 domain binding				0		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)										0.329341	155.172653	159.482084	55	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80383467	80383467	14733	6	A	C	C	C	91	7	SH3BGRL2	4	4
RRAGD	58528	broad.mit.edu	37	6	90088977	90088977	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90088977G>A	uc003pnd.3	-	c.725C>T	c.(724-726)CCA>CTA	p.P242L	RRAGD_uc010kcc.2_Missense_Mutation_p.P91L	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	242					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)										0.121622	10.015173	20.407133	9	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90088977	90088977	14155	6	G	A	A	A	611	47	RRAGD	2	2
NRCAM	4897	broad.mit.edu	37	7	107878195	107878195	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107878195C>A	uc003vfb.2	-	c.124_splice	c.e5+1	p.L42_splice	NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Splice_Site_SNP_p.L37_splice|NRCAM_uc003vfd.2_Splice_Site_SNP_p.L37_splice|NRCAM_uc003vfe.2_Splice_Site_SNP_p.L37_splice	NM_001037132	NP_001032209			neuronal cell adhesion molecule isoform A						angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5														0.222222	10.789908	12.06778	4	14	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	107878195	107878195	11049	7	C	A	A	A	221	17	NRCAM	5	2
FLNC	2318	broad.mit.edu	37	7	128478674	128478674	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128478674G>T	uc003vnz.3	+	c.1228G>T	c.(1228-1230)GTT>TTT	p.V410F	FLNC_uc003voa.3_Missense_Mutation_p.V410F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	410	Filamin 2.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.281915	143.223439	151.241015	53	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128478674	128478674	6177	7	G	T	T	T	624	48	FLNC	2	2
DGKI	9162	broad.mit.edu	37	7	137269996	137269996	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137269996G>T	uc003vtt.2	-	c.1522C>A	c.(1522-1524)CCC>ACC	p.P508T	DGKI_uc003vtu.2_Missense_Mutation_p.P208T	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	508					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.382812	142.749575	144.288991	49	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137269996	137269996	4650	7	G	T	T	T	559	43	DGKI	2	2
UBN2	254048	broad.mit.edu	37	7	138954223	138954223	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138954223A>G	uc011kqr.1	+	c.1550A>G	c.(1549-1551)AAA>AGA	p.K517R	UBN2_uc003vuv.2_Missense_Mutation_p.K240R	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	517										ovary(1)	1														0.181818	59.779906	71.283534	22	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138954223	138954223	17451	7	A	G	G	G	13	1	UBN2	4	4
DENND2A	27147	broad.mit.edu	37	7	140273808	140273808	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140273808G>T	uc010lnj.2	-	c.1246C>A	c.(1246-1248)CAG>AAG	p.Q416K	DENND2A_uc011kre.1_Non-coding_Transcript|DENND2A_uc010lnk.2_Missense_Mutation_p.Q416K|DENND2A_uc003vvw.2_Missense_Mutation_p.Q416K|DENND2A_uc003vvx.2_Missense_Mutation_p.Q416K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	416										ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.43956	353.560464	354.427562	120	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140273808	140273808	4608	7	G	T	T	T	598	46	DENND2A	2	2
EPHB6	2051	broad.mit.edu	37	7	142568375	142568375	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142568375A>T	uc011kst.1	+	c.2894A>T	c.(2893-2895)TAC>TTC	p.Y965F	EPHB6_uc011ksu.1_Missense_Mutation_p.Y965F|EPHB6_uc003wbs.2_Missense_Mutation_p.Y673F|EPHB6_uc003wbt.2_Missense_Mutation_p.Y439F|EPHB6_uc003wbu.2_Missense_Mutation_p.Y673F|EPHB6_uc003wbv.2_Missense_Mutation_p.Y349F	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	965	SAM.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.211321	127.974697	148.38265	56	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142568375	142568375	5371	7	A	T	T	T	182	14	EPHB6	3	3
TRPV5	56302	broad.mit.edu	37	7	142627208	142627208	+	Silent	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142627208C>A	uc003wby.1	-	c.294G>T	c.(292-294)CTG>CTT	p.L98L	TRPV5_uc003wbz.2_Silent_p.L98L	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	98	Cytoplasmic (Potential).|ANK 2.				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.403361	132.466637	133.440825	48	71	KEEP	---	---	---	---	capture		Silent	SNP	142627208	142627208	17150	7	C	A	A	A	366	29	TRPV5	2	2
CASP2	835	broad.mit.edu	37	7	142988654	142988654	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142988654G>T	uc003wco.2	+	c.96G>T	c.(94-96)ATG>ATT	p.M32I	CASP2_uc003wcp.2_Missense_Mutation_p.M32I|CASP2_uc011kta.1_5'UTR|CASP2_uc003wcq.2_Non-coding_Transcript	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	32	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding				0	Melanoma(164;0.059)									155				0.353488	213.924461	217.998599	76	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142988654	142988654	2790	7	G	T	T	T	598	46	CASP2	2	2
CLCN1	1180	broad.mit.edu	37	7	143039535	143039535	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143039535G>T	uc003wcr.1	+	c.1867G>T	c.(1867-1869)GGG>TGG	p.G623W	CLCN1_uc011ktc.1_Missense_Mutation_p.G235W	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	623	CBS 1.|Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.156627	23.021992	32.361677	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143039535	143039535	3598	7	G	T	T	T	611	47	CLCN1	2	2
CLCN1	1180	broad.mit.edu	37	7	143039586	143039586	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143039586G>T	uc003wcr.1	+	c.1918G>T	c.(1918-1920)GTT>TTT	p.V640F	CLCN1_uc011ktc.1_Missense_Mutation_p.V252F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	640	CBS 1.|Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.354839	67.231215	68.383099	22	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143039586	143039586	3598	7	G	T	T	T	572	44	CLCN1	2	2
FAM131B	9715	broad.mit.edu	37	7	143053910	143053910	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143053910G>A	uc010lpa.2	-	c.816C>T	c.(814-816)TAC>TAT	p.Y272Y	FAM131B_uc010loz.2_Silent_p.Y212Y|FAM131B_uc003wct.2_Silent_p.Y244Y|FAM131B_uc003wcu.3_Silent_p.Y244Y	NM_001031690	NP_001026860	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform a	244											0	Melanoma(164;0.205)													0.170543	84.951327	111.4314	44	214	KEEP	---	---	---	---	capture		Silent	SNP	143053910	143053910	5637	7	G	A	A	A	464	36	FAM131B	2	2
FAM131B	9715	broad.mit.edu	37	7	143056061	143056061	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143056061G>C	uc010lpa.2	-	c.325C>G	c.(325-327)CGG>GGG	p.R109G	FAM131B_uc010loz.2_Missense_Mutation_p.R49G|FAM131B_uc003wct.2_Missense_Mutation_p.R81G|FAM131B_uc003wcu.3_Missense_Mutation_p.R81G|ZYX_uc011ktd.1_5'Flank	NM_001031690	NP_001026860	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform a	81											0	Melanoma(164;0.205)													0.382979	55.10414	55.678813	18	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143056061	143056061	5637	7	G	C	C	C	506	39	FAM131B	3	3
FAM115A	9747	broad.mit.edu	37	7	143573331	143573331	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143573331A>G	uc003wdo.1	-	c.371T>C	c.(370-372)GTT>GCT	p.V124A	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.V124A	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	124											0	Melanoma(164;0.0903)													0.34	229.148198	233.669621	68	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143573331	143573331	5602	7	A	G	G	G	26	2	FAM115A	4	4
DNAH11	8701	broad.mit.edu	37	7	21788230	21788230	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21788230A>T	uc003svc.2	+	c.8564A>T	c.(8563-8565)CAG>CTG	p.Q2855L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2855	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.358491	115.229417	117.094788	38	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21788230	21788230	4781	7	A	T	T	T	91	7	DNAH11	3	3
DNAH11	8701	broad.mit.edu	37	7	21789974	21789974	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21789974C>A	uc003svc.2	+	c.8953C>A	c.(8953-8955)CAG>AAG	p.Q2985K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2985	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.333333	20.217445	20.734336	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21789974	21789974	4781	7	C	A	A	A	221	17	DNAH11	2	2
GLI3	2737	broad.mit.edu	37	7	42007443	42007443	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42007443G>C	uc011kbh.1	-	c.2182C>G	c.(2182-2184)CTC>GTC	p.L728V	GLI3_uc011kbg.1_Missense_Mutation_p.L669V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	728					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									p.L728F(LS411N-Tumor)	806				0.091837	23.803565	73.131881	27	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42007443	42007443	6707	7	G	C	C	C	442	34	GLI3	3	3
SDK1	221935	broad.mit.edu	37	7	4281522	4281522	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4281522C>T	uc003smx.2	+	c.6228C>T	c.(6226-6228)ACC>ACT	p.T2076T	SDK1_uc010kso.2_Silent_p.T1332T|SDK1_uc003smy.2_Silent_p.T563T|SDK1_uc003smz.2_Silent_p.T136T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2076	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.2	44.767999	52.722212	19	76	KEEP	---	---	---	---	capture		Silent	SNP	4281522	4281522	14454	7	C	T	T	T	301	24	SDK1	2	2
IKZF1	10320	broad.mit.edu	37	7	50444256	50444256	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50444256G>A	uc003tow.3	+	c.186G>A	c.(184-186)CAG>CAA	p.Q62Q	IKZF1_uc003tox.3_Silent_p.Q62Q|IKZF1_uc003toy.3_Silent_p.Q62Q|IKZF1_uc011kck.1_Intron|IKZF1_uc003toz.3_Silent_p.Q32Q|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	62					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)								226				0.169118	94.690624	122.873452	46	226	KEEP	---	---	---	---	capture		Silent	SNP	50444256	50444256	7915	7	G	A	A	A	425	33	IKZF1	2	2
USP42	84132	broad.mit.edu	37	7	6182611	6182611	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6182611C>G	uc011jwo.1	+	c.844C>G	c.(844-846)CAG>GAG	p.Q282E	USP42_uc011jwn.1_Missense_Mutation_p.Q127E|USP42_uc010kth.1_Missense_Mutation_p.Q215E|USP42_uc011jwp.1_Missense_Mutation_p.Q282E|USP42_uc011jwq.1_Missense_Mutation_p.Q89E|USP42_uc011jwr.1_Missense_Mutation_p.Q127E	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	282					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|pancreas(1)	3		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)										0.259259	65.036333	69.288425	21	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6182611	6182611	17637	7	C	G	G	G	221	17	USP42	3	3
CD36	948	broad.mit.edu	37	7	80276105	80276105	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:80276105G>T	uc003uhc.2	+	c.49G>T	c.(49-51)GCT>TCT	p.A17S	CD36_uc003uhd.3_Missense_Mutation_p.A17S|CD36_uc011kgv.1_Intron|CD36_uc003uhe.3_Missense_Mutation_p.A17S|CD36_uc003uhf.3_Missense_Mutation_p.A17S|CD36_uc003uhg.3_Missense_Mutation_p.A17S|CD36_uc003uhh.3_Missense_Mutation_p.A17S	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	17	Helical; (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1														0.267123	99.051126	106.207919	39	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80276105	80276105	3135	7	G	T	T	T	598	46	CD36	2	2
HGF	3082	broad.mit.edu	37	7	81346644	81346644	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81346644C>G	uc003uhl.2	-	c.1309G>C	c.(1309-1311)GAG>CAG	p.E437Q	HGF_uc003uhm.2_Missense_Mutation_p.E432Q	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	437	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				0.301205	82.341895	85.271855	25	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81346644	81346644	7369	7	C	G	G	G	377	29	HGF	3	3
STEAP2	261729	broad.mit.edu	37	7	89856415	89856415	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:89856415T>A	uc003ujz.2	+	c.623T>A	c.(622-624)CTC>CAC	p.L208H	STEAP2_uc003ujy.2_Missense_Mutation_p.L250H|STEAP2_uc010len.2_Missense_Mutation_p.L208H|STEAP2_uc003uka.2_Missense_Mutation_p.L208H|STEAP2_uc003ukb.2_Missense_Mutation_p.L208H|STEAP2_uc003ukc.2_Missense_Mutation_p.L208H|STEAP2_uc003ukd.2_Missense_Mutation_p.L208H	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	208	Helical; (Potential).				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)													0.364865	70.698872	71.889802	27	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89856415	89856415	15798	7	T	A	A	A	702	54	STEAP2	3	3
NPTX2	4885	broad.mit.edu	37	7	98254413	98254413	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98254413C>A	uc003upl.2	+	c.823C>A	c.(823-825)CAG>AAG	p.Q275K		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	275	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)	2	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)											0.158879	57.187238	80.98798	34	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98254413	98254413	11008	7	C	A	A	A	325	25	NPTX2	2	2
FAM135B	51059	broad.mit.edu	37	8	139263164	139263164	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139263164G>T	uc003yuy.2	-	c.462C>A	c.(460-462)GTC>GTA	p.V154V	FAM135B_uc003yux.2_Silent_p.V55V|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	154										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.123867	47.523928	93.342823	41	290	KEEP	---	---	---	---	capture		Silent	SNP	139263164	139263164	5646	8	G	T	T	T	574	45	FAM135B	2	2
NAPRT1	93100	broad.mit.edu	37	8	144657383	144657383	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144657383C>A	uc003yym.3	-	c.1424G>T	c.(1423-1425)CGG>CTG	p.R475L	C8orf73_uc010mff.2_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yyn.3_Intron|NAPRT1_uc011lkh.1_Missense_Mutation_p.R475L|NAPRT1_uc003yyo.3_Missense_Mutation_p.R475L	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	475					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)							3				0.5	18.749542	18.749542	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144657383	144657383	10561	8	C	A	A	A	299	23	NAPRT1	1	1
POLB	5423	broad.mit.edu	37	8	42213036	42213036	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42213036C>T	uc003xoz.1	+	c.373C>T	c.(373-375)CTC>TTC	p.L125F	POLB_uc003xpa.1_Missense_Mutation_p.L125F|POLB_uc011lcs.1_5'UTR	NM_002690	NP_002681	P06746	DPOLB_HUMAN	DNA-directed DNA polymerase beta	125					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			ovary(1)	1	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)									0.428571	127.110518	127.515659	39	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42213036	42213036	12617	8	C	T	T	T	416	32	POLB	2	2
KIAA0146	23514	broad.mit.edu	37	8	48309166	48309166	+	Silent	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48309166A>T	uc003xqd.2	+	c.756A>T	c.(754-756)TCA>TCT	p.S252S	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Silent_p.S252S|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Silent_p.S182S|KIAA0146_uc011ldd.1_Silent_p.S192S|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_Non-coding_Transcript|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	252											0		Lung NSC(58;0.175)												0.183801	126.323843	156.448211	59	262	KEEP	---	---	---	---	capture		Silent	SNP	48309166	48309166	8464	8	A	T	T	T	80	7	KIAA0146	3	3
CHD7	55636	broad.mit.edu	37	8	61769148	61769149	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61769148_61769149GG>TT	uc003xue.2	+	c.7309_7310GG>TT	c.(7309-7311)GGA>TTA	p.G2437L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2437					central nervous system development|chromatin assembly or disassembly|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	chromatin|nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|lung(1)|breast(1)|pancreas(1)	8		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)											0.559524	154.733196	154.992069	47	37	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	61769148	61769149	3464	8	GG	TT	TT	TT	611	47	CHD7	2	2
NECAB1	64168	broad.mit.edu	37	8	91937876	91937876	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:91937876G>A	uc011lgg.1	+	c.608G>A	c.(607-609)AGC>AAC	p.S203N		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	203					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)											0.518519	45.149768	45.157748	14	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91937876	91937876	10703	8	G	A	A	A	442	34	NECAB1	2	2
NANS	54187	broad.mit.edu	37	9	100839261	100839261	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100839261C>T	uc004ayb.2	+	c.410C>T	c.(409-411)ACT>ATT	p.T137I	NANS_uc004ayc.2_Missense_Mutation_p.T137I|TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_5'Flank	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase	137					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity				0		Acute lymphoblastic leukemia(62;0.0559)												0.1875	28.360728	34.2137	12	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100839261	100839261	10551	9	C	T	T	T	260	20	NANS	2	2
SVEP1	79987	broad.mit.edu	37	9	113261349	113261349	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113261349A>T	uc010mtz.2	-	c.1653T>A	c.(1651-1653)AAT>AAA	p.N551K	SVEP1_uc010mua.1_Missense_Mutation_p.N551K|SVEP1_uc004beu.2_Missense_Mutation_p.N551K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	551	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.15625	10.054255	13.663612	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113261349	113261349	15940	9	A	T	T	T	102	8	SVEP1	3	3
ALAD	210	broad.mit.edu	37	9	116152888	116152888	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116152888C>A	uc011lxf.1	-	c.466G>T	c.(466-468)GCG>TCG	p.A156S	ALAD_uc011lxe.1_Missense_Mutation_p.A139S|ALAD_uc004bhl.3_Missense_Mutation_p.A185S	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	156					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)									0.2	13.032103	15.544029	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116152888	116152888	486	9	C	A	A	A	338	26	ALAD	2	2
RGS3	5998	broad.mit.edu	37	9	116267776	116267776	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116267776C>G	uc004bhq.2	+	c.952C>G	c.(952-954)CCA>GCA	p.P318A	RGS3_uc004bhr.2_Missense_Mutation_p.P206A|RGS3_uc004bhs.2_Missense_Mutation_p.P208A|RGS3_uc004bht.2_Missense_Mutation_p.P37A|RGS3_uc010muy.2_Missense_Mutation_p.P37A|RGS3_uc004bhu.2_5'UTR	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	318	PDZ.				inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3														0.213115	36.740644	41.37946	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116267776	116267776	13780	9	C	G	G	G	390	30	RGS3	3	3
OR1L3	26735	broad.mit.edu	37	9	125437724	125437724	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125437724G>A	uc011lzb.1	+	c.316G>A	c.(316-318)GTT>ATT	p.V106I		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.21327	98.925341	114.907556	45	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125437724	125437724	11370	9	G	A	A	A	572	44	OR1L3	2	2
IFNA16	3449	broad.mit.edu	37	9	21216810	21216810	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21216810C>A	uc003zor.1	-	c.495G>T	c.(493-495)GAG>GAT	p.E165D	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	interferon, alpha 16 precursor	165					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)										0.412409	338.360107	340.185762	113	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21216810	21216810	7836	9	C	A	A	A	311	24	IFNA16	2	2
PGM5	5239	broad.mit.edu	37	9	71002378	71002378	+	Splice_Site_SNP	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71002378G>A	uc004agr.2	+	c.572_splice	c.e4-1	p.V191_splice		NM_021965	NP_068800			phosphoglucomutase 5						cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2														0.198529	62.54094	74.049947	27	109	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	71002378	71002378	12224	9	G	A	A	A	468	36	PGM5	5	2
TJP2	9414	broad.mit.edu	37	9	71869204	71869204	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71869204G>T	uc011lrv.1	+	c.3553G>T	c.(3553-3555)GAG>TAG	p.E1185*	TJP2_uc011lrs.1_Nonsense_Mutation_p.E993*|TJP2_uc004ahe.2_Nonsense_Mutation_p.E1163*|TJP2_uc004ahf.2_Nonsense_Mutation_p.E1016*|TJP2_uc011lru.1_Nonsense_Mutation_p.E1130*|TJP2_uc010mom.1_3'UTR	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	1163	Poly-Glu.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0														0.195402	28.814206	36.355341	17	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71869204	71869204	16459	9	G	T	T	T	533	41	TJP2	5	2
S1PR3	1903	broad.mit.edu	37	9	91616344	91616344	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:91616344T>C	uc004aqe.2	+	c.229T>C	c.(229-231)TTC>CTC	p.F77L		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	77	Helical; Name=2; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|central_nervous_system(1)	3												OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.242424	121.240349	131.205774	40	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91616344	91616344	14275	9	T	C	C	C	832	64	S1PR3	4	4
SLC35D2	11046	broad.mit.edu	37	9	99114336	99114336	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:99114336C>T	uc004awc.2	-	c.403G>A	c.(403-405)GAA>AAA	p.E135K	SLC35D2_uc010msd.2_Non-coding_Transcript|SLC35D2_uc010mse.2_Intron|SLC35D2_uc010msf.2_Missense_Mutation_p.E135K|SLC35D2_uc004awd.2_Intron|SLC35D2_uc004awe.2_Missense_Mutation_p.E135K	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2	135	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)												0.378378	40.43852	40.919638	14	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99114336	99114336	15079	9	C	T	T	T	390	30	SLC35D2	2	2
GPR112	139378	broad.mit.edu	37	X	135430553	135430553	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135430553C>A	uc004ezu.1	+	c.4688C>A	c.(4687-4689)TCC>TAC	p.S1563Y	GPR112_uc010nsb.1_Missense_Mutation_p.S1358Y|GPR112_uc010nsc.1_Missense_Mutation_p.S1330Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1563	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.721739	254.354469	259.434404	83	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135430553	135430553	6903	23	C	A	A	A	390	30	GPR112	2	2
SLITRK2	84631	broad.mit.edu	37	X	144904510	144904510	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904510G>C	uc004fcd.2	+	c.567G>C	c.(565-567)AGG>AGC	p.R189S	SLITRK2_uc010nsp.2_Missense_Mutation_p.R189S|SLITRK2_uc010nso.2_Missense_Mutation_p.R189S|SLITRK2_uc011mwq.1_Missense_Mutation_p.R189S|SLITRK2_uc011mwr.1_Missense_Mutation_p.R189S|SLITRK2_uc011mws.1_Missense_Mutation_p.R189S|SLITRK2_uc004fcg.2_Missense_Mutation_p.R189S|SLITRK2_uc011mwt.1_Missense_Mutation_p.R189S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	189	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.364865	169.124226	171.495634	54	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144904510	144904510	15241	23	G	C	C	C	555	43	SLITRK2	3	3
SLITRK2	84631	broad.mit.edu	37	X	144906366	144906366	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144906366G>T	uc004fcd.2	+	c.2423G>T	c.(2422-2424)AGG>ATG	p.R808M	SLITRK2_uc010nsp.2_Missense_Mutation_p.R808M|SLITRK2_uc010nso.2_Missense_Mutation_p.R808M|SLITRK2_uc011mwq.1_Missense_Mutation_p.R808M|SLITRK2_uc011mwr.1_Missense_Mutation_p.R808M|SLITRK2_uc011mws.1_Missense_Mutation_p.R808M|SLITRK2_uc004fcg.2_Missense_Mutation_p.R808M|SLITRK2_uc011mwt.1_Missense_Mutation_p.R808M|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	808	Cytoplasmic (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.707547	241.254019	245.34437	75	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144906366	144906366	15241	23	G	T	T	T	455	35	SLITRK2	2	2
CXorf1	9142	broad.mit.edu	37	X	144909198	144909198	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144909198G>T	uc004fch.2	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_004709	NP_004700	O96002	CX001_HUMAN	hypothetical protein LOC9142	1											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.5	12.599654	12.599654	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144909198	144909198	4260	23	G	T	T	T	624	48	CXorf1	2	2
FMR1NB	158521	broad.mit.edu	37	X	147106432	147106432	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:147106432G>T	uc004fcm.2	+	c.680G>T	c.(679-681)GGT>GTT	p.G227V		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	227	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.75	125.419731	128.145371	36	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147106432	147106432	6203	23	G	T	T	T	572	44	FMR1NB	2	2
MTM1	4534	broad.mit.edu	37	X	149783137	149783137	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149783137G>T	uc004fef.3	+	c.307G>T	c.(307-309)GGA>TGA	p.G103*	MTM1_uc011mxx.1_Non-coding_Transcript|MTM1_uc011mxy.1_Intron|MTM1_uc011mxz.1_Intron|MTM1_uc010nte.2_Intron	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	103					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			ovary(1)|kidney(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.625	32.653303	32.872582	10	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	149783137	149783137	10330	23	G	T	T	T	455	35	MTM1	5	2
CNGA2	1260	broad.mit.edu	37	X	150908126	150908126	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150908126G>T	uc004fey.1	+	c.296G>T	c.(295-297)CGT>CTT	p.R99L		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	99	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.775701	292.480149	299.954682	83	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150908126	150908126	3735	23	G	T	T	T	520	40	CNGA2	1	1
GABRA3	2556	broad.mit.edu	37	X	151424261	151424261	+	Silent	SNP	G	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151424261G>T	uc010ntk.1	-	c.540C>A	c.(538-540)CTC>CTA	p.L180L		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	180	Extracellular (Probable).			L -> P (in Ref. 3; AAH28629).	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|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	NSCLC(142;2578 2613 10251 16743)								0.735632	202.529737	206.892712	64	23	KEEP	---	---	---	---	capture		Silent	SNP	151424261	151424261	6413	23	G	T	T	T	418	33	GABRA3	2	2
PDZD4	57595	broad.mit.edu	37	X	153069678	153069678	+	Silent	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153069678G>A	uc004fja.1	-	c.1458C>T	c.(1456-1458)ACC>ACT	p.T486T	PDZD4_uc004fiy.1_Silent_p.T405T|PDZD4_uc004fiz.1_Silent_p.T480T|PDZD4_uc004fix.2_Silent_p.T384T|PDZD4_uc011mze.1_Silent_p.T371T	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	480						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.555556	16.775787	16.799919	5	4	KEEP	---	---	---	---	capture		Silent	SNP	153069678	153069678	12124	23	G	A	A	A	548	43	PDZD4	2	2
CDKL5	6792	broad.mit.edu	37	X	18668587	18668587	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18668587G>A	uc004cym.2	+	c.2855G>A	c.(2854-2856)CGA>CAA	p.R952Q	CDKL5_uc004cyn.2_Missense_Mutation_p.R952Q|RS1_uc004cyo.2_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	952					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Hepatocellular(33;0.183)									244				0.091603	6.134322	28.113997	12	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18668587	18668587	3286	23	G	A	A	A	481	37	CDKL5	1	1
FAM47B	170062	broad.mit.edu	37	X	34961142	34961142	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34961142C>A	uc004ddi.1	+	c.194C>A	c.(193-195)CCT>CAT	p.P65H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	65										ovary(3)|breast(1)	4														0.736842	136.463528	139.350419	42	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34961142	34961142	5791	23	C	A	A	A	312	24	FAM47B	2	2
KDM5C	8242	broad.mit.edu	37	X	53239923	53239923	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53239923C>A	uc004drz.2	-	c.1518G>T	c.(1516-1518)ATG>ATT	p.M506I	KDM5C_uc011moc.1_Non-coding_Transcript|KDM5C_uc011mod.1_Missense_Mutation_p.M439I|KDM5C_uc004dsa.2_Missense_Mutation_p.M505I	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	506	JmjC.				chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18														0.741935	78.246657	79.904562	23	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53239923	53239923	8441	23	C	A	A	A	273	21	KDM5C	2	2
NLGN4Y	22829	broad.mit.edu	37	Y	16941629	16941629	+	Silent	SNP	C	T	T			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:16941629C>T	uc011nas.1	+	c.891C>T	c.(889-891)ATC>ATT	p.I297I	NLGN4Y_uc004fte.2_Silent_p.I109I|NLGN4Y_uc004ftg.2_Silent_p.I277I|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.I277I	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	277	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of synaptic transmission|social behavior|territorial aggressive behavior|vocalization behavior	integral to membrane|plasma membrane|synapse	carboxylesterase activity|protein binding				0														0.525	65.875231	65.896849	21	19	KEEP	---	---	---	---	capture		Silent	SNP	16941629	16941629	10868	24	C	T	T	T	369	29	NLGN4Y	2	2
LAMA1	284217	broad.mit.edu	37	18	6966226	6966226	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:6966226_6966226delC	uc002knm.2	-	c.6970_6970delG	c.(6970-6972)GCTfs	p.A2324fs	LAMA1_uc002knl.2_5'Flank|LAMA1_uc010wzj.1_Frame_Shift_Del_p.A1800fs	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2324	Laminin G-like 2.				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				0.30			10	23		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	6966226	6966226	8928	18	C	-	-	-	338	26	LAMA1	5	5
CCDC71	64925	broad.mit.edu	37	3	49200414	49200414	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-4420-01	TCGA-05-4420-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49200414_49200414delG	uc003cwg.3	-	c.1228_1228delC	c.(1228-1230)CGAfs	p.R410fs		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	410										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)										0.42			72	101		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	49200414	49200414	2967	3	G	-	-	-	506	39	CCDC71	5	5
