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	i_TCGAscape_Amplification_Peaks	i_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_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
ARHGAP21	57584	broad.mit.edu	36	10	24929774	24929774	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:24929774G>C	uc001isb.1	-	c.2936C>G	c.(2935-2937)ACG>AGG	p.T979R	ARHGAP21_uc009xkl.1_Missense_Mutation_p.T980R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	979	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8														0.555556	204.938723	205.205129	55	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24929774	24929774	882	10	G	C	C	40	40	ARHGAP21	C	3	3
APBB1IP	54518	broad.mit.edu	36	10	26865111	26865111	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26865111C>T	uc001iss.1	+	c.1003C>T	c.(1003-1005)CGG>TGG	p.R335W	APBB1IP_uc009xks.1_Missense_Mutation_p.R335W	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	335	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.R335W(1)		lung(4)|skin(2)|central_nervous_system(1)	7										307				0.417582	229.7767	230.853468	76	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26865111	26865111	770	10	C	T	T	19	19	APBB1IP	T	1	1
ANK3	288	broad.mit.edu	36	10	61499897	61499897	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:61499897G>A	uc001jky.1	-	c.10748C>T	c.(10747-10749)ACG>ATG	p.T3583M	ANK3_uc001jkz.2_Intron|ANK3_uc001jkv.1_Intron|ANK3_uc001jkw.1_Intron|ANK3_uc009xpa.1_Intron|ANK3_uc001jkx.1_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3583					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.T3583M(1)		ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.456311	141.913902	142.084943	47	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61499897	61499897	625	10	G	A	A	40	40	ANK3	A	1	1
OR9G4	283189	broad.mit.edu	36	11	56267368	56267368	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56267368C>A	uc001nje.1	-	c.496G>T	c.(496-498)GGA>TGA	p.G166*		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	166	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.315789	131.53831	136.130032	48	104	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	56267368	56267368	11662	11	C	A	A	24	24	OR9G4	A	5	3
C11orf84	144097	broad.mit.edu	36	11	63337845	63337845	+	Silent	SNP	C	G	G			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63337845C>G	uc001nxt.1	+	c.111C>G	c.(109-111)CCC>CCG	p.P37P		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	37											0														0.285714	8.079174	8.667395	4	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	63337845	63337845	1706	11	C	G	G	23	23	C11orf84	G	3	3
KLC2	64837	broad.mit.edu	36	11	65789751	65789751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65789751C>T	uc001ohb.1	+	c.1384C>T	c.(1384-1386)CAG>TAG	p.Q462*	RAB1B_uc001ohf.1_5'Flank|KLC2_uc009yra.1_Intron|KLC2_uc001ohc.1_Nonsense_Mutation_p.Q462*|KLC2_uc001ohd.1_Nonsense_Mutation_p.Q385*|KLC2_uc001ohe.1_Nonsense_Mutation_p.Q323*	NM_022822	NP_073733	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	462	TPR 6.				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0														0.384615	46.115552	46.5709	15	24	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	65789751	65789751	8646	11	C	T	T	21	21	KLC2	T	5	2
CHORDC1	26973	broad.mit.edu	36	11	89590954	89590954	+	Silent	SNP	T	C	C			TCGA-06-0154-01	TCGA-06-0154-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:89590954T>C	uc001pdg.1	-	c.111A>G	c.(109-111)TTA>TTG	p.L37L	CHORDC1_uc009yvz.1_Silent_p.L37L	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain-containing	37	Interaction with PPP5C (By similarity).|CHORD 1.				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)												0.392857	78.741039	79.302975	22	34	TT		KEEP	---	---	---	---	capture			Silent	SNP	89590954	89590954	3499	11	T	C	C	61	61	CHORDC1	C	4	4
KLRK1	22914	broad.mit.edu	36	12	10417022	10417022	+	Silent	SNP	A	G	G			TCGA-06-0154-01	TCGA-06-0154-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10417022A>G	uc009zhj.1	-	c.609T>C	c.(607-609)TGT>TGC	p.C203C	KLRK1_uc001qyb.1_Non-coding_Transcript|KLRK1_uc001qyc.1_Silent_p.C203C|KLRK1_uc009zhk.1_Silent_p.C203C|KLRK1_uc001qyd.1_Silent_p.C203C	NM_007360	NP_031386	P26718	NKG2D_HUMAN	NKG2-D type II integral membrane protein	203	Extracellular (Potential).|C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding				0														0.316981	281.709779	289.599684	84	181	AA		KEEP	---	---	---	---	capture			Silent	SNP	10417022	10417022	8737	12	A	G	G	2	2	KLRK1	G	4	4
SVOP	55530	broad.mit.edu	36	12	107830596	107830596	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107830596G>C	uc001tnt.1	-	c.1491C>G	c.(1489-1491)TGC>TGG	p.C497W		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	SV2 related protein	497	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0														0.24	6.316715	7.990218	6	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107830596	107830596	15943	12	G	C	C	34	34	SVOP	C	3	3
GALNT9	50614	broad.mit.edu	36	12	131248367	131248367	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131248367C>T	uc001ukc.2	-	c.1588G>A	c.(1588-1590)GGC>AGC	p.G530S	GALNT9_uc009zyr.1_Missense_Mutation_p.G304S|GALNT9_uc001ukb.1_Missense_Mutation_p.G387S|GALNT9_uc001uka.1_Missense_Mutation_p.G164S	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	530	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)				Colon(186;2147 2752 13553 41466)								0.25	17.01072	18.603019	7	21	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	Missense_Mutation	SNP	131248367	131248367	6484	12	C	T	T	23	23	GALNT9	T	1	1
PIK3C2G	5288	broad.mit.edu	36	12	18443875	18443875	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18443875G>C	uc001rds.1	+	c.2019G>C	c.(2017-2019)AAG>AAC	p.K673N	PIK3C2G_uc001rdt.1_Missense_Mutation_p.K673N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2, gamma	673					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)							p.K673N(SNU1041-Tumor)	655				0.234375	86.28219	94.546407	30	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18443875	18443875	12335	12	G	C	C	33	33	PIK3C2G	C	3	3
OR6C74	254783	broad.mit.edu	36	12	53928057	53928057	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53928057C>T	uc001sgs.1	+	c.719C>T	c.(718-720)TCT>TTT	p.S240F		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.34466	205.356536	209.749443	71	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53928057	53928057	11608	12	C	T	T	32	32	OR6C74	T	2	2
LRRIQ1	84125	broad.mit.edu	36	12	84147479	84147479	+	Missense_Mutation	SNP	C	T	T	rs1395676	by-cluster,by-frequency,by-hapmap	TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:84147479C>T	uc001tac.1	+	c.4876C>T	c.(4876-4878)CGG>TGG	p.R1626W		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1626										ovary(4)|central_nervous_system(1)	5														0.313559	210.768974	218.0672	74	162	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.212)	Missense_Mutation	SNP	84147479	84147479	9405	12	C	T	T	19	19	LRRIQ1	T	1	1
SYNE2	23224	broad.mit.edu	36	14	63526924	63526924	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0154-01	TCGA-06-0154-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63526924A>G	uc001xgl.1	+	c.2356A>G	c.(2356-2358)AGA>GGA	p.R786G	SYNE2_uc001xgm.1_Missense_Mutation_p.R786G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	786	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14														0.321678	151.796496	155.836716	46	97	AA		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63526924	63526924	15967	14	A	G	G	3	3	SYNE2	G	4	4
GABRA5	2558	broad.mit.edu	36	15	24765145	24765145	+	Silent	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:24765145G>A	uc001zbd.1	+	c.648G>A	c.(646-648)GCG>GCA	p.A216A	GABRB3_uc001zbb.1_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	216	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)			Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.522727	77.426408	77.446099	23	21	GG		KEEP	---	---	---	---	capture		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Silent	SNP	24765145	24765145	6415	15	G	A	A	39	39	GABRA5	A	1	1
BAHD1	22893	broad.mit.edu	36	15	38538336	38538336	+	Silent	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38538336C>T	uc001zlu.2	+	c.381C>T	c.(379-381)CTC>CTT	p.L127L	BAHD1_uc001zlt.2_Silent_p.L127L|BAHD1_uc010bbp.1_Silent_p.L127L|BAHD1_uc001zlv.2_Silent_p.L127L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	127					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)												0.333333	75.966895	78.0359	28	56	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	Silent	SNP	38538336	38538336	1318	15	C	T	T	29	29	BAHD1	T	2	2
CKMT1A	548596	broad.mit.edu	36	15	41778517	41778517	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41778517C>T	uc001zsn.1	+	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W	CKMT1A_uc001zso.2_Missense_Mutation_p.R398W	NM_001015001	NP_066270	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A precursor	398	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)			Creatine(DB00148)									0.298578	173.545671	181.195184	63	148	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;3.56e-07)	Missense_Mutation	SNP	41778517	41778517	3585	15	C	T	T	19	19	CKMT1A	T	1	1
MYH2	4620	broad.mit.edu	36	17	10369513	10369513	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10369513C>T	uc010coi.1	-	c.4517G>A	c.(4516-4518)CGA>CAA	p.R1506Q	MYH2_uc002gmp.2_Missense_Mutation_p.R1506Q|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1506	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1506*(1)		ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.312195	182.923645	189.361734	64	141	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10369513	10369513	10430	17	C	T	T	31	31	MYH2	T	1	1
GAS2L2	246176	broad.mit.edu	36	17	31098380	31098380	+	Silent	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31098380G>A	uc002hjv.1	-	c.853C>T	c.(853-855)CTG>TTG	p.L285L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	285					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)												0.364162	399.259047	404.874878	126	220	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Silent	SNP	31098380	31098380	6511	17	G	A	A	35	35	GAS2L2	A	2	2
KRT34	3885	broad.mit.edu	36	17	36789467	36789467	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36789467C>T	uc002hwm.1	-	c.757G>A	c.(757-759)GTG>ATG	p.V253M		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	253	Rod.|Linker 12.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)												0.298507	56.576011	59.005994	20	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36789467	36789467	8786	17	C	T	T	19	19	KRT34	T	1	1
OTOP3	347741	broad.mit.edu	36	17	70449497	70449497	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70449497G>A	uc002jmh.1	+	c.488G>A	c.(487-489)CGG>CAG	p.R163Q		NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	163	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)													0.3125	27.336566	28.339123	10	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70449497	70449497	11719	17	G	A	A	39	39	OTOP3	A	1	1
TRMT1	55621	broad.mit.edu	36	19	13079442	13079442	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13079442C>T	uc002mwj.1	-	c.1529G>A	c.(1528-1530)CGG>CAG	p.R510Q	TRMT1_uc002mwk.1_Missense_Mutation_p.R481Q|TRMT1_uc002mwl.2_Missense_Mutation_p.R510Q	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	TRM1 tRNA methyltransferase 1 isoform 1	510							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.222222	29.071293	32.904229	12	42	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	Missense_Mutation	SNP	13079442	13079442	17111	19	C	T	T	23	23	TRMT1	T	1	1
CILP2	148113	broad.mit.edu	36	19	19515799	19515799	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19515799C>G	uc002nmw.2	+	c.1463C>G	c.(1462-1464)GCT>GGT	p.A488G	CILP2_uc002nmv.2_Missense_Mutation_p.A482G	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	482						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.25	8.917176	10.021532	5	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19515799	19515799	3564	19	C	G	G	28	28	CILP2	G	3	3
ZFR2	23217	broad.mit.edu	36	19	3776291	3776291	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3776291C>T	uc002lyw.2	-	c.1150G>A	c.(1150-1152)GTG>ATG	p.V384M		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	384						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2														0.217391	9.862537	11.557044	5	18	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	Missense_Mutation	SNP	3776291	3776291	18250	19	C	T	T	19	19	ZFR2	T	1	1
NLRP2	55655	broad.mit.edu	36	19	60186498	60186498	+	Silent	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60186498C>T	uc002qij.1	+	c.1620C>T	c.(1618-1620)TCC>TCT	p.S540S	NLRP2_uc010esm.1_Non-coding_Transcript|NLRP2_uc010esn.1_Silent_p.S516S|NLRP2_uc010eso.1_Silent_p.S537S|NLRP2_uc010esp.1_Silent_p.S518S	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	540					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1														0.33758	158.095896	161.726087	53	104	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	Silent	SNP	60186498	60186498	10880	19	C	T	T	23	23	NLRP2	T	1	1
OR7D2	162998	broad.mit.edu	36	19	9158245	9158245	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9158245C>T	uc002mkz.1	+	c.788C>T	c.(787-789)GCG>GTG	p.A263V		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	263	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.192308	106.491542	129.487805	50	210	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9158245	9158245	11630	19	C	T	T	27	27	OR7D2	T	1	1
C1orf161	126868	broad.mit.edu	36	1	116477348	116477348	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116477348C>T	uc001egc.1	+	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	310											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)												0.289157	62.081591	65.380374	24	59	CC		KEEP	---	---	---	---	capture		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	Missense_Mutation	SNP	116477348	116477348	2076	1	C	T	T	27	27	C1orf161	T	1	1
GON4L	54856	broad.mit.edu	36	1	153988942	153988942	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0154-01	TCGA-06-0154-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153988942A>G	uc001flz.2	-	c.5906T>C	c.(5905-5907)CTC>CCC	p.L1969P	GON4L_uc001fly.1_Missense_Mutation_p.L1968P|GON4L_uc009wrh.1_Missense_Mutation_p.L1968P|GON4L_uc001fma.1_Missense_Mutation_p.L1969P|GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Non-coding_Transcript	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1969					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.294118	7.981504	8.6923	5	12	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153988942	153988942	6845	1	A	G	G	11	11	GON4L	G	4	4
CLCNKA	1187	broad.mit.edu	36	1	16227880	16227880	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16227880G>A	uc001axu.1	+	c.1006G>A	c.(1006-1008)GCC>ACC	p.A336T	CLCNKB_uc001axw.2_Intron|CLCNKA_uc001axt.1_Non-coding_Transcript|CLCNKA_uc001axv.1_Missense_Mutation_p.A336T	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	336	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		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)			Niflumic Acid(DB04552)									0.210031	142.586966	167.388992	67	252	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	16227880	16227880	3605	1	G	A	A	38	38	CLCNKA	A	1	1
F5	2153	broad.mit.edu	36	1	167777187	167777187	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167777187C>G	uc001ggg.1	-	c.3765G>C	c.(3763-3765)CAG>CAC	p.Q1255H		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1255	2-8.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.300912	303.300167	314.945519	99	230	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167777187	167777187	5542	1	C	G	G	32	32	F5	G	3	3
KIF21B	23046	broad.mit.edu	36	1	199226026	199226026	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199226026G>C	uc001gvs.1	-	c.2893C>G	c.(2893-2895)CAG>GAG	p.Q965E	KIF21B_uc001gvr.1_Missense_Mutation_p.Q965E|KIF21B_uc009wzl.1_Missense_Mutation_p.Q965E	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	965	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.2	7.658045	9.755338	5	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199226026	199226026	8600	1	G	C	C	46	46	KIF21B	C	3	3
OBSCN	84033	broad.mit.edu	36	1	226534226	226534226	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226534226G>A	uc009xez.1	+	c.7478G>A	c.(7477-7479)CGG>CAG	p.R2493Q	OBSCN_uc001hsn.1_Missense_Mutation_p.R2493Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R192Q|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2493	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.2	7.116479	8.371934	3	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226534226	226534226	11217	1	G	A	A	39	39	OBSCN	A	1	1
RYR2	6262	broad.mit.edu	36	1	235990904	235990904	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235990904G>A	uc001hyl.1	+	c.11429G>A	c.(11428-11430)CGA>CAA	p.R3810Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3810					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.444444	12.699076	12.723242	4	5	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235990904	235990904	14249	1	G	A	A	37	37	RYR2	A	1	1
MCOLN3	55283	broad.mit.edu	36	1	85272498	85272498	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85272498C>T	uc001dkp.1	-	c.421G>A	c.(421-423)GTT>ATT	p.V141I	MCOLN3_uc001dkq.1_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.2_Missense_Mutation_p.V141I|MCOLN3_uc001dks.2_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	141						integral to membrane	ion channel activity				0														0.363014	156.737597	159.147333	53	93	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00957)|Epithelial(280;0.0254)	Missense_Mutation	SNP	85272498	85272498	9786	1	C	T	T	19	19	MCOLN3	T	1	1
PCIF1	63935	broad.mit.edu	36	20	44005255	44005255	+	Silent	SNP	C	T	T	rs35751664	unknown	TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44005255C>T	uc002xqs.1	+	c.786C>T	c.(784-786)TCC>TCT	p.S262S	PCIF1_uc002xqt.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	262						nucleus					0														0.242009	142.165867	155.458506	53	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	44005255	44005255	12000	20	C	T	T	21	21	PCIF1	T	2	2
RIPK4	54101	broad.mit.edu	36	21	42035063	42035063	+	Silent	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42035063G>A	uc002yzn.1	-	c.1359C>T	c.(1357-1359)TGC>TGT	p.C453C		NM_020639	NP_065690	Q9H4D1	Q9H4D1_HUMAN	ankyrin repeat domain 3	453					protein phosphorylation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.C453C(1)		ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7										268				0.361905	203.931897	207.459537	76	134	GG		KEEP	---	---	---	---	capture			Silent	SNP	42035063	42035063	13860	21	G	A	A	38	38	RIPK4	A	1	1
SLC5A4	6527	broad.mit.edu	36	22	30980199	30980199	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30980199G>A	uc003ami.1	-	c.137C>T	c.(136-138)GCG>GTG	p.A46V		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	46	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0														0.378049	83.097298	84.170035	31	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30980199	30980199	15164	22	G	A	A	38	38	SLC5A4	A	1	1
ISX	91464	broad.mit.edu	36	22	33810407	33810407	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:33810407G>A	uc003anj.1	+	c.413G>A	c.(412-414)CGG>CAG	p.R138Q		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	138	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(3)	3														0.263158	40.798766	43.690662	15	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33810407	33810407	8169	22	G	A	A	39	39	ISX	A	1	1
SGSM3	27352	broad.mit.edu	36	22	39133181	39133181	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0154-01	TCGA-06-0154-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39133181A>G	uc010gyd.1	+	c.1400A>G	c.(1399-1401)AAG>AGG	p.K467R	SGSM3_uc003ayu.1_Missense_Mutation_p.K424R	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	424	Potential.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2														0.343434	115.223996	117.365836	34	65	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39133181	39133181	14715	22	A	G	G	3	3	SGSM3	G	4	4
SCN7A	6332	broad.mit.edu	36	2	167035437	167035437	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167035437C>A	uc002udu.1	-	c.598G>T	c.(598-600)GAC>TAC	p.D200Y	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	200	Helical; Name=S3 of repeat I; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.253968	39.36709	42.830365	16	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167035437	167035437	14405	2	C	A	A	30	30	SCN7A	A	3	3
FETUB	26998	broad.mit.edu	36	3	187845304	187845304	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187845304C>A	uc010hyq.1	+	c.495C>A	c.(493-495)CAC>CAA	p.H165Q	FETUB_uc003fqn.1_Missense_Mutation_p.H165Q|FETUB_uc003fqo.1_Missense_Mutation_p.H60Q|FETUB_uc010hyr.1_Missense_Mutation_p.H128Q|FETUB_uc010hys.1_Missense_Mutation_p.H17Q|FETUB_uc003fqp.2_Missense_Mutation_p.H100Q	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B	165	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)													0.348315	183.803332	187.414625	62	116	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	Missense_Mutation	SNP	187845304	187845304	6058	3	C	A	A	18	18	FETUB	A	3	3
TNK2	10188	broad.mit.edu	36	3	197078643	197078643	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197078643C>A	uc003fvt.1	-	c.3112G>T	c.(3112-3114)GAC>TAC	p.D1038Y	TNK2_uc003fvq.1_Missense_Mutation_p.D367Y|TNK2_uc003fvr.1_Missense_Mutation_p.D485Y|TNK2_uc003fvs.1_Missense_Mutation_p.D992Y|TNK2_uc003fvu.1_Missense_Mutation_p.D960Y|TNK2_uc010hzw.1_Non-coding_Transcript	NM_001010938	NP_001010938	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 2	960	UBA.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)			Adenosine triphosphate(DB00171)					288				0.3	7.620579	7.978278	3	7	CC		KEEP	---	---	---	---	capture	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Missense_Mutation	SNP	197078643	197078643	16859	3	C	A	A	32	32	TNK2	A	3	3
RBMS3	27303	broad.mit.edu	36	3	29913909	29913909	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:29913909G>A	uc003cel.1	+	c.827G>A	c.(826-828)CGC>CAC	p.R276H	RBMS3_uc003cek.1_Missense_Mutation_p.R276H|RBMS3_uc010hfq.1_Missense_Mutation_p.R289H|RBMS3_uc003cem.1_Missense_Mutation_p.R275H|RBMS3_uc010hfr.1_Missense_Mutation_p.R276H	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	276						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)												0.327273	261.361393	268.63502	90	185	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29913909	29913909	13612	3	G	A	A	38	38	RBMS3	A	1	1
DNAH1	25981	broad.mit.edu	36	3	52397665	52397665	+	Silent	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52397665G>A	uc003dds.1	+	c.9363G>A	c.(9361-9363)AAG>AAA	p.K3121K	DNAH1_uc003ddu.1_Non-coding_Transcript|DNAH1_uc003ddv.1_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3121	Potential.				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3														0.227273	11.763064	13.265365	5	17	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Silent	SNP	52397665	52397665	4779	3	G	A	A	35	35	DNAH1	A	2	2
GLRA3	8001	broad.mit.edu	36	4	175834910	175834910	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:175834910G>A	uc003ity.1	-	c.821C>T	c.(820-822)TCA>TTA	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	274	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)			Glycine(DB00145)									0.280488	63.089962	66.641919	23	59	GG		KEEP	---	---	---	---	capture		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Missense_Mutation	SNP	175834910	175834910	6724	4	G	A	A	45	45	GLRA3	A	2	2
GABRA4	2557	broad.mit.edu	36	4	46667933	46667933	+	Silent	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:46667933C>T	uc003gxg.1	-	c.798G>A	c.(796-798)CCG>CCA	p.P266P		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	266	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.348624	110.916486	113.121071	38	71	CC		KEEP	---	---	---	---	capture			Silent	SNP	46667933	46667933	6414	4	C	T	T	19	19	GABRA4	T	1	1
UGT2B7	7364	broad.mit.edu	36	4	69997037	69997037	+	Silent	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:69997037C>T	uc003heg.2	+	c.210C>T	c.(208-210)TCC>TCT	p.S70S	UGT2B7_uc010ihq.1_Silent_p.S70S	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family,	70					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.289474	154.966473	162.502983	55	135	CC		KEEP	---	---	---	---	capture			Silent	SNP	69997037	69997037	17520	4	C	T	T	23	23	UGT2B7	T	1	1
AP3S1	1176	broad.mit.edu	36	5	115277078	115277078	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0154-01	TCGA-06-0154-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:115277078T>C	uc003krl.1	+	c.574T>C	c.(574-576)TTT>CTT	p.F192L	AP3S1_uc003krk.1_Missense_Mutation_p.F170L|AP3S1_uc003krm.1_Missense_Mutation_p.F156L	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	192					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)												0.181034	112.320489	134.491939	42	190	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	Missense_Mutation	SNP	115277078	115277078	759	5	T	C	C	64	64	AP3S1	C	4	4
PCDHB12	56124	broad.mit.edu	36	5	140570408	140570408	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140570408C>T	uc003liz.1	+	c.1745C>T	c.(1744-1746)CCG>CTG	p.P582L		NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	582	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1														0.285024	160.767245	169.338827	59	148	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140570408	140570408	11957	5	C	T	T	23	23	PCDHB12	T	1	1
PCDHGA5	56110	broad.mit.edu	36	5	140725192	140725192	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140725192G>A	uc003lju.1	+	c.1111G>A	c.(1111-1113)GTA>ATA	p.V371I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003ljt.1_Missense_Mutation_p.V371I	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	371	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4														0.301724	96.983112	101.053748	35	81	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140725192	140725192	11977	5	G	A	A	40	40	PCDHGA5	A	1	1
KIAA1244	57221	broad.mit.edu	36	6	138572859	138572859	+	Silent	SNP	G	T	T			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138572859G>T	uc003qhu.2	+	c.339G>T	c.(337-339)GTG>GTT	p.V113V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	113					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)													0.344444	91.095295	93.019858	31	59	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Silent	SNP	138572859	138572859	8526	6	G	T	T	47	47	KIAA1244	T	3	3
KIAA1244	57221	broad.mit.edu	36	6	138699245	138699245	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138699245G>A	uc003qhu.2	+	c.6463G>A	c.(6463-6465)GAC>AAC	p.D2155N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	2155					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)													0.285714	161.922235	170.570156	60	150	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Missense_Mutation	SNP	138699245	138699245	8526	6	G	A	A	37	37	KIAA1244	A	1	1
PLG	5340	broad.mit.edu	36	6	161059721	161059721	+	Silent	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:161059721G>A	uc003qtm.2	+	c.957G>A	c.(955-957)TTG>TTA	p.L319L		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	319	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			ovary(1)	1					Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)									0.365854	86.024363	87.323477	30	52	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Silent	SNP	161059721	161059721	12512	6	G	A	A	47	47	PLG	A	2	2
AGPAT1	10554	broad.mit.edu	36	6	32246332	32246332	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32246332G>A	uc003oae.1	-	c.358C>T	c.(358-360)CGC>TGC	p.R120C	PPT2_uc003nzy.1_Non-coding_Transcript|AGPAT1_uc003oaf.1_Missense_Mutation_p.R120C|AGPAT1_uc003oag.1_Intron|AGPAT1_uc003oah.1_Missense_Mutation_p.R120C|AGPAT1_uc003oai.1_Missense_Mutation_p.R120C	NM_006411	NP_116130	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	120					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|positive regulation of cytokine-mediated signaling pathway|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1														0.350515	104.3244	106.235028	34	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32246332	32246332	389	6	G	A	A	39	39	AGPAT1	A	1	1
SPDEF	25803	broad.mit.edu	36	6	34616933	34616933	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34616933G>C	uc003ojq.1	-	c.440C>G	c.(439-441)CCC>CGC	p.P147R		NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	147	PNT.				negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of survival gene product expression	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P147R(1)		skin(3)|ovary(1)|central_nervous_system(1)	5														0.368421	19.523247	19.811026	7	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34616933	34616933	15536	6	G	C	C	43	43	SPDEF	C	3	3
KHDRBS2	202559	broad.mit.edu	36	6	62662668	62662668	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:62662668G>A	uc003peg.2	-	c.641C>T	c.(640-642)CCA>CTA	p.P214L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	214	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(3)|liver(1)|skin(1)	5														0.328947	72.050812	74.021349	25	51	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.149)	Missense_Mutation	SNP	62662668	62662668	8453	6	G	A	A	47	47	KHDRBS2	A	2	2
ANKRD6	22881	broad.mit.edu	36	6	90394086	90394086	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90394086C>T	uc003pni.2	+	c.1435C>T	c.(1435-1437)CGC>TGC	p.R479C	ANKRD6_uc003pne.2_Missense_Mutation_p.R479C|ANKRD6_uc003pnf.2_Missense_Mutation_p.R444C|ANKRD6_uc010kcd.1_Missense_Mutation_p.R420C|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.2_Missense_Mutation_p.R75C|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.2_Missense_Mutation_p.R75C	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	479							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)												0.386364	105.535826	106.529613	34	54	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0209)	Missense_Mutation	SNP	90394086	90394086	693	6	C	T	T	23	23	ANKRD6	T	1	1
CNTNAP2	26047	broad.mit.edu	36	7	146628265	146628265	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146628265G>A	uc003weu.1	+	c.1448G>A	c.(1447-1449)CGA>CAA	p.R483Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	483	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.211382	124.763179	143.712348	52	194	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Missense_Mutation	SNP	146628265	146628265	3785	7	G	A	A	37	37	CNTNAP2	A	1	1
GHRHR	2692	broad.mit.edu	36	7	30982571	30982571	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30982571G>A	uc003tbx.1	+	c.977G>A	c.(976-978)CGT>CAT	p.R326H	GHRHR_uc003tby.1_Missense_Mutation_p.R262H|GHRHR_uc003tbz.1_Silent_p.A92A	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	326	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			large_intestine(1)|ovary(1)	2					Sermorelin(DB00010)									0.356436	103.270021	105.104595	36	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30982571	30982571	6641	7	G	A	A	40	40	GHRHR	A	1	1
PSPH	5723	broad.mit.edu	36	7	56052496	56052496	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:56052496C>T	uc003trj.1	-	c.433G>A	c.(433-435)GTA>ATA	p.V145I	PSPH_uc003trg.1_Missense_Mutation_p.V116I|PSPH_uc003trh.1_Missense_Mutation_p.V116I|PSPH_uc003tri.1_Missense_Mutation_p.V116I	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	116					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)													0.097902	9.233392	32.38587	14	129	CC		KEEP	---	---	---	---	capture	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		Missense_Mutation	SNP	56052496	56052496	13171	7	C	T	T	17	17	PSPH	T	2	2
ASNS	440	broad.mit.edu	36	7	97322630	97322630	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:97322630G>A	uc003uot.2	-	c.1108C>T	c.(1108-1110)CTT>TTT	p.L370F	ASNS_uc003uou.2_Missense_Mutation_p.L370F|ASNS_uc003uov.2_Missense_Mutation_p.L370F|ASNS_uc003uow.2_Missense_Mutation_p.L349F|ASNS_uc003uox.2_Missense_Mutation_p.L287F	NM_133436	NP_899199	P08243	ASNS_HUMAN	asparagine synthetase	370	Asparagine synthetase.				asparagine biosynthetic process|cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)								0.169725	80.832631	103.33858	37	181	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97322630	97322630	1067	7	G	A	A	36	36	ASNS	A	2	2
ELF4	2000	broad.mit.edu	36	X	129028596	129028596	+	Silent	SNP	C	T	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129028596C>T	uc004evd.2	-	c.1773G>A	c.(1771-1773)CCG>CCA	p.P591P	ELF4_uc004eve.2_Silent_p.P591P	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	591					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1										86				0.609195	344.87912	346.694418	106	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	129028596	129028596	5247	23	C	T	T	31	31	ELF4	T	1	1
NLGN4X	57502	broad.mit.edu	36	X	5831320	5831320	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0154-01	TCGA-06-0154-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:5831320T>G	uc010ndi.1	-	c.1510A>C	c.(1510-1512)ACC>CCC	p.T504P	NLGN4X_uc004crp.1_Missense_Mutation_p.T487P|NLGN4X_uc010ndh.1_Missense_Mutation_p.T467P|NLGN4X_uc004crq.1_Missense_Mutation_p.T467P|NLGN4X_uc004crr.1_Missense_Mutation_p.T467P|NLGN4X_uc010ndj.1_Missense_Mutation_p.T467P	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4	467	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.210526	7.382514	10.485274	8	30	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5831320	5831320	10867	23	T	G	G	59	59	NLGN4X	G	4	4
