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
ATRNL1	26033	broad.mit.edu	37	10	117045738	117045738	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117045738G>A	uc001lcg.2	+	c.2246G>A	c.(2245-2247)GGA>GAA	p.G749E		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	749	PSI 3.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.184211	15.401494	18.957067	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117045738	117045738	1226	10	G	A	A	A	533	41	ATRNL1	2	2
VAX1	11023	broad.mit.edu	37	10	118897464	118897464	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118897464G>T	uc009xyx.2	-	c.104C>A	c.(103-105)GCG>GAG	p.A35E	VAX1_uc001ldb.1_Missense_Mutation_p.A35E	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	35						nucleus	sequence-specific DNA binding|transcription regulator activity			ovary(2)	2				all cancers(201;0.0108)										0.258824	55.768178	60.146874	22	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118897464	118897464	17699	10	G	T	T	T	494	38	VAX1	1	1
PDZD8	118987	broad.mit.edu	37	10	119043833	119043833	+	Missense_Mutation	SNP	T	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119043833T>A	uc001lde.1	-	c.2411A>T	c.(2410-2412)CAT>CTT	p.H804L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	804					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)										0.150685	22.078636	30.611889	11	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119043833	119043833	12126	10	T	A	A	A	663	51	PDZD8	3	3
SEC61A2	55176	broad.mit.edu	37	10	12191875	12191875	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:12191875G>T	uc001ile.2	+	c.377G>T	c.(376-378)GGG>GTG	p.G126V	SEC61A2_uc010qbq.1_Missense_Mutation_p.G104V|SEC61A2_uc001ilf.3_Non-coding_Transcript|SEC61A2_uc001ilh.3_Non-coding_Transcript|SEC61A2_uc001ilg.3_Missense_Mutation_p.G126V	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	126	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)												0.356164	74.764797	76.079724	26	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12191875	12191875	14487	10	G	T	T	T	559	43	SEC61A2	2	2
STK32C	282974	broad.mit.edu	37	10	134038769	134038769	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134038769C>A	uc010quu.1	-	c.883G>T	c.(883-885)GGG>TGG	p.G295W	STK32C_uc001lld.1_Missense_Mutation_p.G165W|STK32C_uc001lle.1_Missense_Mutation_p.G282W|STK32C_uc009ybc.1_Missense_Mutation_p.G165W|STK32C_uc009ybd.1_3'UTR|STK32C_uc001llb.2_Missense_Mutation_p.G53W|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	282	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(1)	3		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)						638				0.235294	7.687656	8.781062	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134038769	134038769	15819	10	C	A	A	A	286	22	STK32C	2	2
CUBN	8029	broad.mit.edu	37	10	16873346	16873346	+	Missense_Mutation	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16873346A>T	uc001ioo.2	-	c.10433T>A	c.(10432-10434)GTC>GAC	p.V3478D		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3478	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.204819	36.360483	43.048933	17	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16873346	16873346	4211	10	A	T	T	T	130	10	CUBN	3	3
COMMD3	23412	broad.mit.edu	37	10	22607738	22607738	+	Missense_Mutation	SNP	A	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22607738A>G	uc001irf.2	+	c.415A>G	c.(415-417)AAT>GAT	p.N139D	COMMD3_uc001ire.2_3'UTR|COMMD3_uc001irg.2_Non-coding_Transcript|BMI1_uc009xkg.2_Intron|BMI1_uc001irh.2_5'Flank	NM_012071	NP_036203	Q9UBI1	COMD3_HUMAN	COMM domain containing 3	139	COMM.						protein binding				0														0.341667	121.375587	124.01627	41	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22607738	22607738	3855	10	A	G	G	G	65	5	COMMD3	4	4
FRMPD2	143162	broad.mit.edu	37	10	49430483	49430483	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:49430483G>T	uc001jgi.2	-	c.1328C>A	c.(1327-1329)ACA>AAA	p.T443K	FRMPD2_uc001jgh.2_Missense_Mutation_p.T412K|FRMPD2_uc001jgj.2_Missense_Mutation_p.T421K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	443	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)										0.360656	66.428576	67.472029	22	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49430483	49430483	6308	10	G	T	T	T	624	48	FRMPD2	2	2
BICC1	80114	broad.mit.edu	37	10	60272985	60272985	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:60272985G>T	uc001jki.1	+	c.82G>T	c.(82-84)GTG>TTG	p.V28L		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	28					multicellular organismal development		RNA binding			ovary(2)|lung(1)	3														0.304348	15.817262	16.60272	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60272985	60272985	1452	10	G	T	T	T	468	36	BICC1	2	2
C10orf11	83938	broad.mit.edu	37	10	78317043	78317043	+	Silent	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78317043C>T	uc001jxi.2	+	c.594C>T	c.(592-594)CTC>CTT	p.L198L		NM_032024	NP_114413	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	198											0	Prostate(51;0.0095)|all_epithelial(25;0.0221)													0.354839	33.117193	33.692415	11	20	KEEP	---	---	---	---	capture		Silent	SNP	78317043	78317043	1617	10	C	T	T	T	405	32	C10orf11	2	2
KCNMA1	3778	broad.mit.edu	37	10	78647236	78647236	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78647236C>A	uc001jxn.2	-	c.3499G>T	c.(3499-3501)GTG>TTG	p.V1167L	KCNMA1_uc001jxj.2_Missense_Mutation_p.V1113L|KCNMA1_uc001jxk.1_Missense_Mutation_p.V785L|KCNMA1_uc009xrt.1_Missense_Mutation_p.V958L|KCNMA1_uc001jxl.1_Missense_Mutation_p.V792L|KCNMA1_uc001jxo.2_Missense_Mutation_p.V1150L|KCNMA1_uc001jxm.2_Missense_Mutation_p.V1109L|KCNMA1_uc001jxq.2_Missense_Mutation_p.V1139L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1167	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|catalytic activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)									0.294118	27.755279	29.03448	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78647236	78647236	8378	10	C	A	A	A	247	19	KCNMA1	1	1
BTAF1	9044	broad.mit.edu	37	10	93744142	93744142	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93744142T>C	uc001khr.2	+	c.2408T>C	c.(2407-2409)ATA>ACA	p.I803T	BTAF1_uc001khs.1_Missense_Mutation_p.I473T|BTAF1_uc001kht.1_Missense_Mutation_p.I241T	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	803					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0846)												0.185185	12.184132	14.673617	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93744142	93744142	1568	10	T	C	C	C	637	49	BTAF1	4	4
PIK3AP1	118788	broad.mit.edu	37	10	98405277	98405277	+	Missense_Mutation	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98405277A>T	uc001kmq.2	-	c.1328T>A	c.(1327-1329)CTC>CAC	p.L443H	PIK3AP1_uc001kmp.2_Missense_Mutation_p.L265H	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	443						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)										0.232558	24.228385	27.044281	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98405277	98405277	12332	10	A	T	T	T	143	11	PIK3AP1	3	3
MUC2	4583	broad.mit.edu	37	11	1098690	1098690	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1098690G>C	uc001lsx.1	+	c.14146G>C	c.(14146-14148)GCC>CCC	p.A4716P		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4716						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.294118	14.969132	15.613482	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1098690	1098690	10369	11	G	C	C	C	598	46	MUC2	3	3
IL10RA	3587	broad.mit.edu	37	11	117869691	117869691	+	Missense_Mutation	SNP	G	T	T	rs78753252	by1000genomes	TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117869691G>T	uc001prv.2	+	c.1072G>T	c.(1072-1074)GAC>TAC	p.D358Y	IL10RA_uc010rxl.1_Missense_Mutation_p.D338Y|IL10RA_uc010rxm.1_Missense_Mutation_p.D338Y|IL10RA_uc010rxn.1_Missense_Mutation_p.D209Y|IL10RA_uc001prw.2_Missense_Mutation_p.D209Y	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	358	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)										0.186047	14.691826	18.651869	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117869691	117869691	7921	11	G	T	T	T	533	41	IL10RA	2	2
TRIM29	23650	broad.mit.edu	37	11	120008387	120008387	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120008387G>T	uc001pwz.2	-	c.353C>A	c.(352-354)CCC>CAC	p.P118H	TRIM29_uc001pxa.2_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	118					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)	3		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)										0.244681	165.656227	182.327091	69	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120008387	120008387	17047	11	G	T	T	T	559	43	TRIM29	2	2
ZNF202	7753	broad.mit.edu	37	11	123600515	123600515	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123600515C>A	uc001pzd.1	-	c.421G>T	c.(421-423)GGC>TGC	p.G141C	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.G141C|ZNF202_uc001pzf.1_Missense_Mutation_p.G141C	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	141					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)										0.361702	51.761966	52.552827	17	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123600515	123600515	18354	11	C	A	A	A	299	23	ZNF202	1	1
PANX3	116337	broad.mit.edu	37	11	124487352	124487352	+	Silent	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124487352C>T	uc001qah.2	+	c.507C>T	c.(505-507)TCC>TCT	p.S169S		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	169	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)										0.333333	62.56362	64.170164	22	44	KEEP	---	---	---	---	capture		Silent	SNP	124487352	124487352	11839	11	C	T	T	T	288	23	PANX3	1	1
MUC5B	727897	broad.mit.edu	37	11	1264035	1264035	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1264035C>A	uc009ycr.1	+	c.8004C>A	c.(8002-8004)CCC>CCA	p.P2668P	MUC5B_uc001ltb.2_Silent_p.P1978P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1975	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.363636	126.9705	128.948522	44	77	KEEP	---	---	---	---	capture		Silent	SNP	1264035	1264035	10373	11	C	A	A	A	262	21	MUC5B	2	2
ZDHHC13	54503	broad.mit.edu	37	11	19177405	19177405	+	Silent	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:19177405C>T	uc001mpi.2	+	c.936C>T	c.(934-936)TTC>TTT	p.F312F	ZDHHC13_uc001mpj.2_Silent_p.F182F	NM_019028	NP_061901	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC domain containing 13 isoform	312	Helical; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding				0														0.4	58.117867	58.545961	20	30	KEEP	---	---	---	---	capture		Silent	SNP	19177405	19177405	18191	11	C	T	T	T	376	29	ZDHHC13	2	2
KCNQ1	3784	broad.mit.edu	37	11	2591907	2591907	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:2591907G>C	uc001lwn.2	+	c.527G>C	c.(526-528)TGG>TCG	p.W176S	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.2_Missense_Mutation_p.W49S	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	176	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|regulation of heart contraction|sensory perception of sound	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)									0.228571	20.58098	22.946727	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2591907	2591907	8387	11	G	C	C	C	611	47	KCNQ1	3	3
CAT	847	broad.mit.edu	37	11	34478364	34478364	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34478364G>T	uc001mvm.2	+	c.1056G>T	c.(1054-1056)CAG>CAT	p.Q352H	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	352					hydrogen peroxide catabolic process|negative regulation of apoptosis|oxidation-reduction process|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)									0.291667	40.032646	41.89738	14	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34478364	34478364	2805	11	G	T	T	T	451	35	CAT	2	2
STIM1	6786	broad.mit.edu	37	11	4104601	4104601	+	Silent	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4104601A>T	uc001lyv.2	+	c.1347A>T	c.(1345-1347)TCA>TCT	p.S449S	STIM1_uc009yef.2_Silent_p.S449S|STIM1_uc009yeg.2_Silent_p.S276S	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	449	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)										0.285714	44.979941	47.285746	16	40	KEEP	---	---	---	---	capture		Silent	SNP	4104601	4104601	15803	11	A	T	T	T	67	6	STIM1	3	3
OR5AR1	219493	broad.mit.edu	37	11	56431279	56431279	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56431279G>T	uc010rjm.1	+	c.118G>T	c.(118-120)GTG>TTG	p.V40L		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.237668	135.566018	149.586276	53	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56431279	56431279	11555	11	G	T	T	T	468	36	OR5AR1	2	2
OR52E4	390081	broad.mit.edu	37	11	5906021	5906021	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5906021C>G	uc010qzs.1	+	c.499C>G	c.(499-501)CGT>GGT	p.R167G	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.234694	56.953938	63.306836	23	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5906021	5906021	11526	11	C	G	G	G	351	27	OR52E4	3	3
TRPT1	83707	broad.mit.edu	37	11	63992969	63992969	+	Splice_Site_SNP	SNP	A	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63992969A>C	uc010rnd.1	-	c.157_splice	c.e3+1	p.D53_splice	TRPT1_uc010rnc.1_Splice_Site_SNP_p.D53_splice|TRPT1_uc001nyn.2_Splice_Site_SNP_p.D4_splice|TRPT1_uc001nyo.2_Splice_Site_SNP_p.D53_splice|TRPT1_uc010rne.1_Splice_Site_SNP_p.D53_splice|TRPT1_uc010rnf.1_Splice_Site_SNP_p.D53_splice|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank|NUDT22_uc010rng.1_5'Flank	NM_001160389	NP_001153861			tRNA phosphotransferase 1 isoform 3								tRNA 2'-phosphotransferase activity				0														0.333333	18.748311	19.188969	6	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	63992969	63992969	17145	11	A	C	C	C	182	14	TRPT1	5	4
CCDC87	55231	broad.mit.edu	37	11	66358319	66358319	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66358319C>T	uc001oiq.3	-	c.2168G>A	c.(2167-2169)CGG>CAG	p.R723Q	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	723										ovary(1)	1														0.318841	123.508736	127.452943	44	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66358319	66358319	2987	11	C	T	T	T	299	23	CCDC87	1	1
OR2AG1	144125	broad.mit.edu	37	11	6806406	6806406	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6806406C>A	uc001mer.1	+	c.138C>A	c.(136-138)CTC>CTA	p.L46L		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.22963	73.077855	82.110399	31	104	KEEP	---	---	---	---	capture		Silent	SNP	6806406	6806406	11390	11	C	A	A	A	379	30	OR2AG1	2	2
FGF19	9965	broad.mit.edu	37	11	69514154	69514154	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:69514154G>T	uc001opf.2	-	c.527C>A	c.(526-528)CCT>CAT	p.P176H		NM_005117	NP_005108	O95750	FGF19_HUMAN	fibroblast growth factor 19 precursor	176					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			skin(1)	1	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)							15				0.254386	71.403031	77.661518	29	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69514154	69514154	6084	11	G	T	T	T	455	35	FGF19	2	2
P2RY6	5031	broad.mit.edu	37	11	73008274	73008274	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73008274G>T	uc001otm.2	+	c.711G>T	c.(709-711)GCG>GCT	p.A237A	P2RY6_uc001otn.2_Silent_p.A237A|P2RY6_uc001oto.2_Silent_p.A237A|P2RY6_uc001otp.2_Silent_p.A237A|P2RY6_uc001otq.2_Silent_p.A237A|P2RY6_uc001otr.2_Silent_p.A237A|P2RY6_uc001ots.2_Silent_p.A237A	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	237	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1														0.279279	81.474892	86.280101	31	80	KEEP	---	---	---	---	capture		Silent	SNP	73008274	73008274	11767	11	G	T	T	T	496	39	P2RY6	1	1
ARHGEF17	9828	broad.mit.edu	37	11	73020531	73020531	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73020531G>T	uc001otu.2	+	c.848G>T	c.(847-849)GGT>GTT	p.G283V		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	283					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0														0.361111	36.767533	37.377703	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73020531	73020531	914	11	G	T	T	T	572	44	ARHGEF17	2	2
PCF11	51585	broad.mit.edu	37	11	82876987	82876987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82876987G>T	uc001ozx.3	+	c.1048G>T	c.(1048-1050)GAA>TAA	p.E350*	PCF11_uc010rsu.1_Nonsense_Mutation_p.E350*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	350	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.214286	7.017766	8.072766	3	11	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82876987	82876987	11993	11	G	T	T	T	585	45	PCF11	5	2
FAT3	120114	broad.mit.edu	37	11	92590441	92590441	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92590441G>T	uc001pdj.3	+	c.11427G>T	c.(11425-11427)CAG>CAT	p.Q3809H	FAT3_uc001pdi.3_Missense_Mutation_p.Q249H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3809	EGF-like 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.230769	45.340101	50.5	18	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92590441	92590441	5927	11	G	T	T	T	464	36	FAT3	2	2
MTNR1B	4544	broad.mit.edu	37	11	92714983	92714983	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92714983C>A	uc001pdk.1	+	c.594C>A	c.(592-594)ACC>ACA	p.T198T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	198	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)									0.216216	19.682857	22.429461	8	29	KEEP	---	---	---	---	capture		Silent	SNP	92714983	92714983	10345	11	C	A	A	A	275	22	MTNR1B	2	2
LHX5	64211	broad.mit.edu	37	12	113907096	113907096	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113907096C>A	uc001tvj.1	-	c.228G>T	c.(226-228)CTG>CTT	p.L76L		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	76	LIM zinc-binding 2.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0														0.253521	46.716975	50.631876	18	53	KEEP	---	---	---	---	capture		Silent	SNP	113907096	113907096	9100	12	C	A	A	A	262	21	LHX5	2	2
RPLP0	6175	broad.mit.edu	37	12	120636469	120636469	+	Missense_Mutation	SNP	A	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120636469A>C	uc001txp.2	-	c.539T>G	c.(538-540)ATC>AGC	p.I180S	RPLP0_uc001txq.2_Missense_Mutation_p.I180S|RPLP0_uc001txr.2_Intron	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	180					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.261538	41.196637	44.593438	17	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120636469	120636469	14083	12	A	C	C	C	156	12	RPLP0	4	4
IFLTD1	160492	broad.mit.edu	37	12	25702345	25702345	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25702345C>A	uc010sji.1	-	c.225G>T	c.(223-225)CAG>CAT	p.Q75H	IFLTD1_uc001rgs.2_Missense_Mutation_p.Q54H|IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.Q75H	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	54						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)													0.309859	53.306674	55.669053	22	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25702345	25702345	7831	12	C	A	A	A	415	32	IFLTD1	2	2
OVCH1	341350	broad.mit.edu	37	12	29642629	29642629	+	Missense_Mutation	SNP	T	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29642629T>A	uc001rix.1	-	c.626A>T	c.(625-627)AAG>ATG	p.K209M		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	209	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.227273	12.085538	13.572	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29642629	29642629	11736	12	T	A	A	A	728	56	OVCH1	3	3
AKAP3	10566	broad.mit.edu	37	12	4736589	4736589	+	Silent	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4736589G>C	uc001qnb.3	-	c.1479C>G	c.(1477-1479)TCC>TCG	p.S493S		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	493					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(2)|large_intestine(1)|ovary(1)|kidney(1)	5														0.314286	29.190537	30.277787	11	24	KEEP	---	---	---	---	capture		Silent	SNP	4736589	4736589	455	12	G	C	C	C	444	35	AKAP3	3	3
KRT6B	3854	broad.mit.edu	37	12	52841671	52841671	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52841671G>T	uc001sak.2	-	c.1315C>A	c.(1315-1317)CAG>AAG	p.Q439K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	439	Rod.|Coil 2.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)										0.321429	102.097097	105.250306	36	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52841671	52841671	8796	12	G	T	T	T	598	46	KRT6B	2	2
KRT4	3851	broad.mit.edu	37	12	53201583	53201583	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53201583G>T	uc001saz.2	-	c.1413C>A	c.(1411-1413)GCC>GCA	p.A471A		NM_002272	NP_002263	P19013	K2C4_HUMAN	keratin 4	411	Coil 2.|Rod.				cytoskeleton organization|epithelial cell differentiation|negative regulation of epithelial cell proliferation	keratin filament	structural molecule activity			ovary(4)	4						Pancreas(190;284 2995 41444 45903)								0.309091	47.568108	49.346861	17	38	KEEP	---	---	---	---	capture		Silent	SNP	53201583	53201583	8792	12	G	T	T	T	548	43	KRT4	2	2
DGKA	1606	broad.mit.edu	37	12	56346633	56346633	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56346633G>A	uc001sij.2	+	c.1859G>A	c.(1858-1860)GGG>GAG	p.G620E	DGKA_uc009zod.1_Missense_Mutation_p.G539E|DGKA_uc001sik.2_Missense_Mutation_p.G620E|DGKA_uc001sil.2_Missense_Mutation_p.G620E|DGKA_uc001sim.2_Missense_Mutation_p.G620E|DGKA_uc001sin.2_Missense_Mutation_p.G620E|DGKA_uc009zof.2_Missense_Mutation_p.G266E|DGKA_uc001sio.2_Missense_Mutation_p.G362E	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	620					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)									0.183908	73.790148	90.114118	32	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56346633	56346633	4644	12	G	A	A	A	559	43	DGKA	2	2
GLI1	2735	broad.mit.edu	37	12	57858560	57858560	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57858560C>T	uc001snx.2	+	c.298C>T	c.(298-300)CGC>TGC	p.R100C	GLI1_uc009zpp.2_Non-coding_Transcript|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_Non-coding_Transcript	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	100					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of gene-specific transcription|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	promoter binding|transcription activator activity|zinc ion binding			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	14			GBM - Glioblastoma multiforme(3;3.99e-32)			Pancreas(157;841 1936 10503 41495 50368)				277				0.303797	70.479228	73.187899	24	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57858560	57858560	6705	12	C	T	T	T	299	23	GLI1	1	1
GLI1	2735	broad.mit.edu	37	12	57858976	57858976	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57858976G>T	uc001snx.2	+	c.472G>T	c.(472-474)GAC>TAC	p.D158Y	GLI1_uc009zpq.2_Missense_Mutation_p.D30Y	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	158					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of gene-specific transcription|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	promoter binding|transcription activator activity|zinc ion binding			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	14			GBM - Glioblastoma multiforme(3;3.99e-32)			Pancreas(157;841 1936 10503 41495 50368)				277				0.219512	18.969231	21.92976	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57858976	57858976	6705	12	G	T	T	T	585	45	GLI1	2	2
SRGAP1	57522	broad.mit.edu	37	12	64491115	64491115	+	Silent	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64491115C>T	uc010ssp.1	+	c.1773C>T	c.(1771-1773)CTC>CTT	p.L591L	SRGAP1_uc001srv.2_Silent_p.L528L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	591	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)										0.222222	30.486611	34.308757	12	42	KEEP	---	---	---	---	capture		Silent	SNP	64491115	64491115	15659	12	C	T	T	T	405	32	SRGAP1	2	2
LRRC23	10233	broad.mit.edu	37	12	7014864	7014864	+	Nonsense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7014864G>T	uc001qrt.3	+	c.67G>T	c.(67-69)GAG>TAG	p.E23*	LRRC23_uc001qrn.1_Nonsense_Mutation_p.E23*|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Nonsense_Mutation_p.E23*|LRRC23_uc001qrq.2_Nonsense_Mutation_p.E23*|LRRC23_uc001qrr.2_Silent_p.T8T|LRRC23_uc001qrs.2_Silent_p.T8T|LRRC23_uc009zfh.2_Nonsense_Mutation_p.E23*	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	23										ovary(1)	1														0.186441	22.991349	28.425685	11	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7014864	7014864	9352	12	G	T	T	T	481	37	LRRC23	5	1
ZIC2	7546	broad.mit.edu	37	13	100634871	100634871	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100634871G>T	uc001von.2	+	c.553G>T	c.(553-555)GGC>TGC	p.G185C		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	185	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|positive regulation of sequence-specific DNA binding transcription factor activity|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					Pancreas(97;119 1522 31925 44771 48764)								0.625	16.977864	17.088246	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100634871	100634871	18270	13	G	T	T	T	507	39	ZIC2	1	1
TRPC4	7223	broad.mit.edu	37	13	38237654	38237654	+	Silent	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38237654T>C	uc010abx.2	-	c.1587A>G	c.(1585-1587)GCA>GCG	p.A529A	TRPC4_uc010abv.2_Silent_p.A109A|TRPC4_uc001uwt.2_Silent_p.A529A|TRPC4_uc001uws.2_Silent_p.A529A|TRPC4_uc010tey.1_Silent_p.A529A|TRPC4_uc010abw.2_Silent_p.A356A|TRPC4_uc010aby.2_Silent_p.A529A	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	529	Helical; (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.469388	68.517912	68.55806	23	26	KEEP	---	---	---	---	capture		Silent	SNP	38237654	38237654	17131	13	T	C	C	C	652	51	TRPC4	4	4
CKAP2	26586	broad.mit.edu	37	13	53036592	53036592	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53036592G>A	uc001vgv.2	+	c.1198G>A	c.(1198-1200)GAA>AAA	p.E400K	CKAP2_uc001vgt.2_Missense_Mutation_p.E399K|CKAP2_uc001vgu.2_Missense_Mutation_p.E399K|CKAP2_uc010tha.1_Missense_Mutation_p.E351K	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	400					apoptosis|cell cycle	cytoplasm|microtubule|spindle pole				ovary(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)										0.295455	33.455841	35.103881	13	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53036592	53036592	3578	13	G	A	A	A	585	45	CKAP2	2	2
SLITRK1	114798	broad.mit.edu	37	13	84454814	84454814	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84454814G>T	uc001vlk.2	-	c.829C>A	c.(829-831)CAA>AAA	p.Q277K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	277	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.428571	64.772873	64.989516	21	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84454814	84454814	15240	13	G	T	T	T	611	47	SLITRK1	2	2
SLC15A1	6564	broad.mit.edu	37	13	99340562	99340562	+	Silent	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99340562A>T	uc001vno.2	-	c.1623T>A	c.(1621-1623)CCT>CCA	p.P541P		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	541	Extracellular (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)									0.168421	33.140632	43.033545	16	79	KEEP	---	---	---	---	capture		Silent	SNP	99340562	99340562	14893	13	A	T	T	T	184	15	SLC15A1	3	3
FUT8	2530	broad.mit.edu	37	14	66028456	66028456	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:66028456G>A	uc001xin.2	+	c.175G>A	c.(175-177)GAC>AAC	p.D59N	FUT8_uc001xio.2_Missense_Mutation_p.D59N|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_Non-coding_Transcript|FUT8_uc001xip.2_Missense_Mutation_p.D59N|FUT8_uc001xiq.2_Intron	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	59	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)										0.432432	46.988282	47.136384	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66028456	66028456	6361	14	G	A	A	A	429	33	FUT8	2	2
ADAMTS17	170691	broad.mit.edu	37	15	100636656	100636656	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100636656C>A	uc002bvv.1	-	c.2042G>T	c.(2041-2043)GGG>GTG	p.G681V	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G438V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	681	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)										0.211009	50.072942	58.494056	23	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100636656	100636656	263	15	C	A	A	A	286	22	ADAMTS17	2	2
C15orf2	23742	broad.mit.edu	37	15	24922411	24922411	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922411C>A	uc001ywo.2	+	c.1397C>A	c.(1396-1398)CCT>CAT	p.P466H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	466	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)					p.P466L(SR786-Tumor)	443				0.231788	83.564134	93.505215	35	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922411	24922411	1834	15	C	A	A	A	312	24	C15orf2	2	2
C15orf2	23742	broad.mit.edu	37	15	24923271	24923271	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24923271G>T	uc001ywo.2	+	c.2257G>T	c.(2257-2259)GTC>TTC	p.V753F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	753					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)					p.V753F(OCIAML3-Tumor)	443				0.264516	101.969041	109.769927	41	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24923271	24923271	1834	15	G	T	T	T	468	36	C15orf2	2	2
GABRA5	2558	broad.mit.edu	37	15	27182452	27182452	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27182452C>A	uc001zbd.1	+	c.701C>A	c.(700-702)ACT>AAT	p.T234N	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	234	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.30303	29.23762	30.380269	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27182452	27182452	6415	15	C	A	A	A	260	20	GABRA5	2	2
SPTBN5	51332	broad.mit.edu	37	15	42147077	42147077	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42147077C>A	uc001zos.2	-	c.9416G>T	c.(9415-9417)CGG>CTG	p.R3139L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3174	Spectrin 28.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)										0.230769	30.676933	34.128536	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42147077	42147077	15636	15	C	A	A	A	299	23	SPTBN5	1	1
IL21R	50615	broad.mit.edu	37	16	27445756	27445756	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27445756G>T	uc002doq.1	+	c.138G>T	c.(136-138)ACG>ACT	p.T46T	IL21R_uc002dor.1_Silent_p.T46T|IL21R_uc002dos.1_Silent_p.T46T	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	46	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2									p.T46T(HRT18-Tumor)|p.T46T(HCT15-Tumor)	423				0.5	21.326793	21.326793	7	7	KEEP	---	---	---	---	capture		Silent	SNP	27445756	27445756	7972	16	G	T	T	T	483	38	IL21R	1	1
SALL1	6299	broad.mit.edu	37	16	51176012	51176012	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51176012C>G	uc010vgs.1	-	c.121G>C	c.(121-123)GAT>CAT	p.D41H	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	41					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.25	71.53703	78.011724	28	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51176012	51176012	14290	16	C	G	G	G	390	30	SALL1	3	3
TXNL4B	54957	broad.mit.edu	37	16	72124580	72124580	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72124580C>A	uc002fca.2	-	c.69G>T	c.(67-69)GAG>GAT	p.E23D	TXNL4B_uc010cgl.2_Non-coding_Transcript|TXNL4B_uc010vmn.1_Missense_Mutation_p.E23D|TXNL4B_uc010vmo.1_Missense_Mutation_p.E23D	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	23					mitosis|mRNA processing|RNA splicing	spliceosomal complex				ovary(1)	1														0.276316	51.083547	54.482625	21	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72124580	72124580	17362	16	C	A	A	A	415	32	TXNL4B	2	2
MYH1	4619	broad.mit.edu	37	17	10399302	10399302	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10399302C>T	uc002gmo.2	-	c.5134G>A	c.(5134-5136)GAT>AAT	p.D1712N		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1712	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.418919	93.407725	93.833259	31	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10399302	10399302	10424	17	C	T	T	T	390	30	MYH1	2	2
MYH3	4621	broad.mit.edu	37	17	10544690	10544690	+	Splice_Site_SNP	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10544690C>A	uc002gmq.1	-	c.1960_splice	c.e17-1	p.E654_splice		NM_002470	NP_002461			myosin, heavy chain 3, skeletal muscle,						muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.315789	77.442394	80.296094	30	65	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	10544690	10544690	10431	17	C	A	A	A	312	24	MYH3	5	2
LLGL1	3996	broad.mit.edu	37	17	18145251	18145251	+	Silent	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18145251G>C	uc002gsp.2	+	c.2820G>C	c.(2818-2820)CGG>CGC	p.R940R		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	940					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)													0.073684	-0.441294	17.294281	7	88	KEEP	---	---	---	---	capture		Silent	SNP	18145251	18145251	9162	17	G	C	C	C	522	41	LLGL1	3	3
KCNJ12	3768	broad.mit.edu	37	17	21319603	21319603	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21319603C>A	uc002gyv.1	+	c.949C>A	c.(949-951)CTG>ATG	p.L317M		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	317	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)	3				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)						Prostate(3;0.18)			0.059829	-7.73156	15.938887	7	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21319603	21319603	8351	17	C	A	A	A	311	24	KCNJ12	2	2
ERAL1	26284	broad.mit.edu	37	17	27182086	27182086	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27182086G>A	uc002hcy.1	+	c.34G>A	c.(34-36)GTT>ATT	p.V12I	ERAL1_uc002hcx.1_Missense_Mutation_p.V12I|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Era-like 1	12					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding				0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)											0.266667	29.513392	31.70572	12	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27182086	27182086	5395	17	G	A	A	A	624	48	ERAL1	2	2
OR3A1	4994	broad.mit.edu	37	17	3195311	3195311	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3195311T>C	uc002fvh.1	-	c.566A>G	c.(565-567)CAG>CGG	p.Q189R		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						GBM(20;287 516 18743 28660 36594)								0.326316	87.29549	89.836188	31	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3195311	3195311	11443	17	T	C	C	C	715	55	OR3A1	4	4
UNC45B	146862	broad.mit.edu	37	17	33497247	33497247	+	Silent	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33497247C>G	uc002hja.2	+	c.1662C>G	c.(1660-1662)GCC>GCG	p.A554A	UNC45B_uc002hjb.2_Silent_p.A554A|UNC45B_uc002hjc.2_Silent_p.A554A|UNC45B_uc010cto.2_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	554					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.205882	16.106839	18.833759	7	27	KEEP	---	---	---	---	capture		Silent	SNP	33497247	33497247	17547	17	C	G	G	G	275	22	UNC45B	3	3
ACACA	31	broad.mit.edu	37	17	35578665	35578665	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35578665C>A	uc002hno.2	-	c.3663G>T	c.(3661-3663)CTG>CTT	p.L1221L	ACACA_uc002hnk.2_Silent_p.L1106L|ACACA_uc002hnl.2_Silent_p.L1126L|ACACA_uc002hnm.2_Silent_p.L1184L|ACACA_uc002hnn.2_Silent_p.L1184L|ACACA_uc010cuz.2_Silent_p.L1184L	NM_198834	NP_942131	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	1184					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)				742				0.206897	28.969037	33.585542	12	46	KEEP	---	---	---	---	capture		Silent	SNP	35578665	35578665	107	17	C	A	A	A	314	25	ACACA	2	2
KRT34	3885	broad.mit.edu	37	17	39538481	39538481	+	Nonsense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39538481G>T	uc002hwm.2	-	c.144C>A	c.(142-144)TGC>TGA	p.C48*		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	48	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)												0.189474	33.895457	42.490947	18	77	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39538481	39538481	8786	17	G	T	T	T	542	42	KRT34	5	2
CDC27	996	broad.mit.edu	37	17	45219678	45219678	+	Missense_Mutation	SNP	A	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45219678A>G	uc002ile.3	-	c.1313T>C	c.(1312-1314)TTG>TCG	p.L438S	CDC27_uc002ild.3_Missense_Mutation_p.L432S|CDC27_uc002ilf.3_Missense_Mutation_p.L432S|CDC27_uc010wkp.1_Missense_Mutation_p.L371S|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 1	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein binding			lung(2)|breast(2)|ovary(1)	5														0.192308	12.059069	14.358969	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45219678	45219678	3194	17	A	G	G	G	65	5	CDC27	4	4
SDK2	54549	broad.mit.edu	37	17	71391459	71391459	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71391459C>A	uc010dfm.2	-	c.3427G>T	c.(3427-3429)GGG>TGG	p.G1143W	SDK2_uc002jjt.3_Missense_Mutation_p.G302W|SDK2_uc010dfn.2_Missense_Mutation_p.G822W	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1143	Extracellular (Potential).|Fibronectin type-III 6.				cell adhesion	integral to membrane				ovary(2)	2														0.25641	25.530801	27.630162	10	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71391459	71391459	14455	17	C	A	A	A	299	23	SDK2	1	1
FXR2	9513	broad.mit.edu	37	17	7495160	7495160	+	Missense_Mutation	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7495160A>T	uc002gia.1	-	c.2010T>A	c.(2008-2010)AAT>AAA	p.N670K	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	670						cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)										0.346154	27.969188	28.511567	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7495160	7495160	6367	17	A	T	T	T	102	8	FXR2	3	3
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577105G>T	uc002gim.2	-	c.833C>A	c.(832-834)CCT>CAT	p.P278H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146H|TP53_uc010cng.1_Missense_Mutation_p.P146H|TP53_uc002gii.1_Missense_Mutation_p.P146H|TP53_uc010cnh.1_Missense_Mutation_p.P278H|TP53_uc010cni.1_Missense_Mutation_p.P278H|TP53_uc002gij.2_Missense_Mutation_p.P278H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	278	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.P278L(51)|p.P278R(25)|p.P278H(11)|p.0?(6)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(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.P278R(SCLC21H-Tumor)|p.V274fs(SCC9-Tumor)|p.P278F(RERFLCAD1-Tumor)|p.P278H(CCK81-Tumor)|p.P278F(WM983B-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.407407	33.820905	34.022867	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577105	7577105	16923	17	G	T	T	T	455	35	TP53	2	2
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577138C>A	uc002gim.2	-	c.800G>T	c.(799-801)CGG>CTG	p.R267L	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135L|TP53_uc010cng.1_Missense_Mutation_p.R135L|TP53_uc002gii.1_Missense_Mutation_p.R135L|TP53_uc010cnh.1_Missense_Mutation_p.R267L|TP53_uc010cni.1_Missense_Mutation_p.R267L|TP53_uc002gij.2_Missense_Mutation_p.R267L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	267	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R267P(13)|p.R267Q(7)|p.0?(6)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(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.R267P(NCIH1437-Tumor)|p.R267P(JHH7-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.142857	4.412231	6.993233	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577138	7577138	16923	17	C	A	A	A	299	23	TP53	1	1
PIK3R6	146850	broad.mit.edu	37	17	8731976	8731976	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8731976C>A	uc002glq.1	-	c.1221G>T	c.(1219-1221)CTG>CTT	p.L407L	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	407					platelet activation	cytosol					0														0.352941	17.346054	17.669739	6	11	KEEP	---	---	---	---	capture		Silent	SNP	8731976	8731976	12347	17	C	A	A	A	314	25	PIK3R6	2	2
PIK3R5	23533	broad.mit.edu	37	17	8785177	8785177	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8785177G>A	uc002glt.2	-	c.2227C>T	c.(2227-2229)CGC>TGC	p.R743C	PIK3R5_uc010vuz.1_Missense_Mutation_p.R743C|PIK3R5_uc002glu.3_Missense_Mutation_p.R357C	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	743	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.4	23.102508	23.275218	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8785177	8785177	12346	17	G	A	A	A	481	37	PIK3R5	1	1
PIK3R5	23533	broad.mit.edu	37	17	8792128	8792128	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8792128C>G	uc002glt.2	-	c.976G>C	c.(976-978)GAG>CAG	p.E326Q	PIK3R5_uc010vuz.1_Missense_Mutation_p.E326Q|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.R274S|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	326				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.344828	29.339376	29.956842	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8792128	8792128	12346	17	C	G	G	G	390	30	PIK3R5	3	3
GAS7	8522	broad.mit.edu	37	17	9850262	9850262	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9850262C>A	uc002gmg.1	-	c.564G>T	c.(562-564)CCG>CCT	p.P188P	GAS7_uc010vvc.1_Silent_p.P2P|GAS7_uc002gmh.1_Silent_p.P48P|GAS7_uc010vvd.1_Silent_p.P140P|GAS7_uc002gmi.2_Silent_p.P124P|GAS7_uc002gmj.1_Silent_p.P128P|GAS7_uc010coh.1_Silent_p.P128P	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	188					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			pancreas(1)	1										523				0.25641	28.337647	30.431829	10	29	KEEP	---	---	---	---	capture		Silent	SNP	9850262	9850262	6514	17	C	A	A	A	288	23	GAS7	1	1
ZNF397	84307	broad.mit.edu	37	18	32823239	32823239	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32823239T>C	uc010dmp.2	+	c.538T>C	c.(538-540)TGC>CGC	p.C180R	ZNF397_uc002kyi.2_Missense_Mutation_p.C180R|ZNF397_uc010dmq.2_Missense_Mutation_p.C180R|ZNF397_uc010dmr.2_Non-coding_Transcript|ZNF397_uc002kyj.2_Missense_Mutation_p.C180R|ZNF397_uc002kyk.1_Missense_Mutation_p.C180R	NM_001135178	NP_001128650	Q8NF99	ZN397_HUMAN	zinc finger protein 397 isoform 1	180					regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.252747	54.193982	59.331527	23	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32823239	32823239	18476	18	T	C	C	C	663	51	ZNF397	4	4
PIGN	23556	broad.mit.edu	37	18	59828461	59828461	+	Silent	SNP	T	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59828461T>A	uc002lii.3	-	c.126A>T	c.(124-126)CCA>CCT	p.P42P	PIGN_uc002lij.3_Silent_p.P42P	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	42	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)												0.243243	22.682255	24.888936	9	28	KEEP	---	---	---	---	capture		Silent	SNP	59828461	59828461	12317	18	T	A	A	A	704	55	PIGN	3	3
STK11	6794	broad.mit.edu	37	19	1220699	1220699	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1220699G>T	uc002lrl.1	+	c.717G>T	c.(715-717)TGG>TGT	p.W239C		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	239	Protein kinase.		W -> C (in PJS; late onset suggests reduced penetrance).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|protein phosphorylation|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)		lung(162)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|ovary(4)|stomach(3)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|breast(1)|oesophagus(1)|prostate(1)|kidney(1)	252		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)				14		1341	TSP Lung(3;<1E-8)			0.5	28.874427	28.874427	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1220699	1220699	15807	19	G	T	T	T	572	44	STK11	2	2
CYP4F8	11283	broad.mit.edu	37	19	15733988	15733988	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15733988C>A	uc002nbi.2	+	c.721C>A	c.(721-723)CGG>AGG	p.R241R	CYP4F8_uc010xoj.1_Silent_p.R53R	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	241					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														0.355556	48.097799	48.920402	16	29	KEEP	---	---	---	---	capture		Silent	SNP	15733988	15733988	4356	19	C	A	A	A	295	23	CYP4F8	1	1
PIK3R2	5296	broad.mit.edu	37	19	18272854	18272854	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18272854G>T	uc002nia.1	+	c.894G>T	c.(892-894)GCG>GCT	p.A298A	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	298					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|central_nervous_system(1)|pancreas(1)	4									p.A298A(NUGC3-Tumor)	186				0.305556	24.178829	25.420259	11	25	KEEP	---	---	---	---	capture		Silent	SNP	18272854	18272854	12343	19	G	T	T	T	483	38	PIK3R2	1	1
ZNF492	57615	broad.mit.edu	37	19	22847646	22847646	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22847646C>A	uc002nqw.3	+	c.1175C>A	c.(1174-1176)CCC>CAC	p.P392H		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)												0.163265	14.96909	20.248521	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22847646	22847646	18537	19	C	A	A	A	286	22	ZNF492	2	2
ZNF536	9745	broad.mit.edu	37	19	30936032	30936032	+	Nonsense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30936032C>A	uc002nsu.1	+	c.1563C>A	c.(1561-1563)TAC>TAA	p.Y521*	ZNF536_uc010edd.1_Nonsense_Mutation_p.Y521*	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.189474	40.59477	49.162786	18	77	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30936032	30936032	18568	19	C	A	A	A	233	18	ZNF536	5	2
ZNF223	7766	broad.mit.edu	37	19	44564659	44564659	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44564659G>T	uc002oyf.1	+	c.67G>T	c.(67-69)GGG>TGG	p.G23W	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.270073	93.115192	99.652153	37	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44564659	44564659	18368	19	G	T	T	T	559	43	ZNF223	2	2
ZNF285	26974	broad.mit.edu	37	19	44891421	44891421	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44891421G>A	uc010xxa.1	-	c.1007C>T	c.(1006-1008)TCT>TTT	p.S336F	ZFP112_uc010xwz.1_Intron|ZNF285_uc002ozd.3_Missense_Mutation_p.S329F	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	329	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.324675	73.856832	75.952992	25	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44891421	44891421	18414	19	G	A	A	A	429	33	ZNF285	2	2
ZNF665	79788	broad.mit.edu	37	19	53668353	53668353	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53668353C>G	uc010eqm.1	-	c.1390G>C	c.(1390-1392)GGT>CGT	p.G464R		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	399	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)										0.226087	59.305906	67.222617	26	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53668353	53668353	18668	19	C	G	G	G	299	23	ZNF665	3	3
BIRC8	112401	broad.mit.edu	37	19	53793228	53793228	+	Nonsense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53793228C>A	uc002qbk.2	-	c.400G>T	c.(400-402)GAA>TAA	p.E134*		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	134					apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)										0.225166	67.298464	77.788207	34	117	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	53793228	53793228	1465	19	C	A	A	A	390	30	BIRC8	5	2
ZBTB45	84878	broad.mit.edu	37	19	59028554	59028554	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:59028554C>A	uc002qtd.2	-	c.487G>T	c.(487-489)GGG>TGG	p.G163W	ZBTB45_uc002qte.2_Missense_Mutation_p.G163W|ZBTB45_uc002qtf.2_Missense_Mutation_p.G163W	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	163	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		NSCLC(164;1383 2017 5233 27540 46677)						OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.32	40.478478	41.920116	16	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59028554	59028554	18133	19	C	A	A	A	286	22	ZBTB45	2	2
OR1M1	125963	broad.mit.edu	37	19	9204166	9204166	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9204166G>T	uc010xkj.1	+	c.246G>T	c.(244-246)CTG>CTT	p.L82L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.391304	53.077807	53.57197	18	28	KEEP	---	---	---	---	capture		Silent	SNP	9204166	9204166	11374	19	G	T	T	T	600	47	OR1M1	2	2
FRRS1	391059	broad.mit.edu	37	1	100185118	100185118	+	Silent	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100185118G>A	uc001dsh.1	-	c.1092C>T	c.(1090-1092)TCC>TCT	p.S364S		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	364	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)										0.352941	70.921718	72.199592	24	44	KEEP	---	---	---	---	capture		Silent	SNP	100185118	100185118	6310	1	G	A	A	A	548	43	FRRS1	2	2
DBT	1629	broad.mit.edu	37	1	100672123	100672123	+	Nonsense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100672123G>A	uc001dta.2	-	c.1087C>T	c.(1087-1089)CAG>TAG	p.Q363*	DBT_uc010oug.1_Nonsense_Mutation_p.Q182*	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	363					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)										0.286245	209.48319	220.500162	77	192	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100672123	100672123	4429	1	G	A	A	A	585	45	DBT	5	2
UBIAD1	29914	broad.mit.edu	37	1	11345795	11345795	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11345795G>T	uc001asg.2	+	c.624G>T	c.(622-624)GGG>GGT	p.G208G		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	208	Helical; (Potential).				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)										0.172414	28.176157	36.999386	15	72	KEEP	---	---	---	---	capture		Silent	SNP	11345795	11345795	17443	1	G	T	T	T	561	44	UBIAD1	2	2
SYCP1	6847	broad.mit.edu	37	1	115418714	115418714	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115418714C>G	uc001efr.2	+	c.682C>G	c.(682-684)CTT>GTT	p.L228V	SYCP1_uc010owt.1_Non-coding_Transcript|SYCP1_uc001efq.2_Missense_Mutation_p.L228V|SYCP1_uc009wgw.2_Missense_Mutation_p.L228V	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	228	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding				0	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.265625	43.466926	46.726598	17	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115418714	115418714	15952	1	C	G	G	G	260	20	SYCP1	3	3
FBXO2	26232	broad.mit.edu	37	1	11709842	11709842	+	Missense_Mutation	SNP	T	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11709842T>A	uc009vna.2	-	c.620A>T	c.(619-621)AAG>ATG	p.K207M	FBXO2_uc001asj.2_Missense_Mutation_p.K204M|FBXO2_uc009vnb.1_Non-coding_Transcript	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	F-box only protein 2	204	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity				0	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)										0.122807	6.987259	14.928292	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11709842	11709842	5969	1	T	A	A	A	728	56	FBXO2	3	3
PDE4DIP	9659	broad.mit.edu	37	1	144877096	144877096	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:144877096G>T	uc001elw.3	-	c.4591C>A	c.(4591-4593)CGG>AGG	p.R1531R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.R1487R|PDE4DIP_uc001elv.3_Silent_p.R538R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1531					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)						595				0.2	24.678998	29.310807	11	44	KEEP	---	---	---	---	capture		Silent	SNP	144877096	144877096	12064	1	G	T	T	T	506	39	PDE4DIP	1	1
NUDT17	200035	broad.mit.edu	37	1	145586946	145586946	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145586946G>T	uc001eoe.2	-	c.742C>A	c.(742-744)CTA>ATA	p.L248I	NBPF10_uc001emp.3_Intron	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety	248							hydrolase activity|metal ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.252101	82.995445	89.635832	30	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145586946	145586946	11139	1	G	T	T	T	464	36	NUDT17	2	2
FLG2	388698	broad.mit.edu	37	1	152328737	152328737	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152328737C>T	uc001ezw.3	-	c.1525G>A	c.(1525-1527)GGG>AGG	p.G509R		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	509	Ser-rich.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.249057	163.889402	179.124597	66	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152328737	152328737	6161	1	C	T	T	T	273	21	FLG2	2	2
FBLIM1	54751	broad.mit.edu	37	1	16101240	16101240	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16101240G>T	uc001axg.1	+	c.839G>T	c.(838-840)AGC>ATC	p.S280I	FBLIM1_uc001axd.1_Missense_Mutation_p.S280I|FBLIM1_uc001axe.1_Missense_Mutation_p.S280I|FBLIM1_uc001axf.2_Non-coding_Transcript|FBLIM1_uc001axh.1_Missense_Mutation_p.S183I|FBLIM1_uc001axi.1_Missense_Mutation_p.S183I	NM_001024215	NP_001019386	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform b	280	PLEKHC1-binding.|LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)										0.161538	38.943656	53.075524	21	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16101240	16101240	5933	1	G	T	T	T	442	34	FBLIM1	2	2
PFDN2	5202	broad.mit.edu	37	1	161087769	161087769	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161087769C>A	uc001fxu.2	-	c.48G>T	c.(46-48)GCG>GCT	p.A16A	NIT1_uc001fxv.1_5'Flank|NIT1_uc001fxw.2_5'Flank|NIT1_uc001fxx.1_5'Flank|NIT1_uc001fxy.1_5'Flank|NIT1_uc010pka.1_5'Flank	NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	16				SGAGKGAVS -> TPRRGRGRCP (in Ref. 2; AAD47084).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)											0.192308	20.929347	25.521481	10	42	KEEP	---	---	---	---	capture		Silent	SNP	161087769	161087769	12178	1	C	A	A	A	288	23	PFDN2	1	1
PAPPA2	60676	broad.mit.edu	37	1	176668286	176668286	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176668286C>A	uc001gkz.2	+	c.2797C>A	c.(2797-2799)CCT>ACT	p.P933T	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	933					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.38	104.55923	105.808694	38	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176668286	176668286	11850	1	C	A	A	A	286	22	PAPPA2	2	2
CACNA1E	777	broad.mit.edu	37	1	181702858	181702858	+	Silent	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181702858C>T	uc001gow.2	+	c.3234C>T	c.(3232-3234)GAC>GAT	p.D1078D	CACNA1E_uc009wxs.2_Silent_p.D966D|CACNA1E_uc001gox.1_Silent_p.D304D|CACNA1E_uc009wxt.2_Silent_p.D304D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1078	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.333333	17.547551	17.988591	6	12	KEEP	---	---	---	---	capture		Silent	SNP	181702858	181702858	2658	1	C	T	T	T	233	18	CACNA1E	2	2
ASPM	259266	broad.mit.edu	37	1	197070841	197070841	+	Missense_Mutation	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197070841A>T	uc001gtu.2	-	c.7540T>A	c.(7540-7542)TAT>AAT	p.Y2514N	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Y362N	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2514					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.27027	77.645268	82.902171	30	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197070841	197070841	1075	1	A	T	T	T	169	13	ASPM	3	3
PIGR	5284	broad.mit.edu	37	1	207105801	207105801	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207105801C>T	uc001hez.2	-	c.2008G>A	c.(2008-2010)GAC>AAC	p.D670N	PIGR_uc009xbz.2_Missense_Mutation_p.D670N	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	670	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2														0.204724	55.5251	65.768086	26	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207105801	207105801	12321	1	C	T	T	T	299	23	PIGR	1	1
USH2A	7399	broad.mit.edu	37	1	216462704	216462704	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216462704G>T	uc001hku.1	-	c.1889C>A	c.(1888-1890)GCA>GAA	p.A630E	USH2A_uc001hkv.2_Missense_Mutation_p.A630E	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	630	Laminin EGF-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.282609	69.539792	73.428747	26	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216462704	216462704	17598	1	G	T	T	T	598	46	USH2A	2	2
PLD5	200150	broad.mit.edu	37	1	242253245	242253245	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242253245G>T	uc001hzo.1	-	c.1246C>A	c.(1246-1248)CCG>ACG	p.P416T	PLD5_uc001hzl.3_Missense_Mutation_p.P446T|PLD5_uc001hzm.3_Missense_Mutation_p.P298T|PLD5_uc001hzn.1_Missense_Mutation_p.P508T	NM_152666	NP_689879	Q8N7P1	PLD5_HUMAN	phospholipase D5	508						integral to membrane	catalytic activity			ovary(5)	5	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)											0.300469	166.892099	174.48883	64	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242253245	242253245	12475	1	G	T	T	T	546	42	PLD5	2	2
ZNF670	93474	broad.mit.edu	37	1	247201596	247201596	+	Nonsense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247201596C>A	uc001icd.1	-	c.325G>T	c.(325-327)GGA>TGA	p.G109*	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	109	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)											0.207317	83.081992	96.081057	34	130	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	247201596	247201596	18672	1	C	A	A	A	273	21	ZNF670	5	2
OR2T1	26696	broad.mit.edu	37	1	248569559	248569559	+	Silent	SNP	A	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248569559A>G	uc010pzm.1	+	c.264A>G	c.(262-264)GCA>GCG	p.A88A		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	88	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.185185	52.85564	65.356794	25	110	KEEP	---	---	---	---	capture		Silent	SNP	248569559	248569559	11422	1	A	G	G	G	67	6	OR2T1	4	4
OR2T27	403239	broad.mit.edu	37	1	248813976	248813976	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248813976G>T	uc010pzo.1	-	c.210C>A	c.(208-210)GAC>GAA	p.D70E		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.1	2.270939	8.666498	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248813976	248813976	11427	1	G	T	T	T	620	48	OR2T27	2	2
DEPDC1	55635	broad.mit.edu	37	1	68954074	68954074	+	Missense_Mutation	SNP	A	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:68954074A>G	uc001dem.3	-	c.704T>C	c.(703-705)ATA>ACA	p.I235T	DEPDC1_uc001dek.3_Non-coding_Transcript|DEPDC1_uc001del.3_Missense_Mutation_p.I235T	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	235					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding|transcription repressor activity				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)										0.176471	35.996407	44.362547	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68954074	68954074	4618	1	A	G	G	G	208	16	DEPDC1	4	4
C1orf173	127254	broad.mit.edu	37	1	75037052	75037052	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75037052G>T	uc001dgg.2	-	c.4342C>A	c.(4342-4344)CAA>AAA	p.Q1448K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1448	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.236842	86.629822	96.259227	36	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75037052	75037052	2081	1	G	T	T	T	598	46	C1orf173	2	2
C1orf173	127254	broad.mit.edu	37	1	75078489	75078489	+	Silent	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75078489G>C	uc001dgg.2	-	c.1005C>G	c.(1003-1005)ACC>ACG	p.T335T	C1orf173_uc001dgi.3_Silent_p.T129T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	335										ovary(3)|central_nervous_system(1)	4														0.236842	22.057344	24.461499	9	29	KEEP	---	---	---	---	capture		Silent	SNP	75078489	75078489	2081	1	G	C	C	C	444	35	C1orf173	3	3
TTLL7	79739	broad.mit.edu	37	1	84403666	84403666	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84403666C>A	uc001djc.2	-	c.757G>T	c.(757-759)GTG>TTG	p.V253L	TTLL7_uc001djb.2_Non-coding_Transcript|TTLL7_uc001djd.2_Non-coding_Transcript|TTLL7_uc001dje.2_Non-coding_Transcript|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	253	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)										0.235294	61.331524	67.896233	24	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84403666	84403666	17287	1	C	A	A	A	247	19	TTLL7	1	1
SNAP25	6616	broad.mit.edu	37	20	10277675	10277675	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:10277675C>A	uc002wnq.1	+	c.384C>A	c.(382-384)GCC>GCA	p.A128A	SNAP25_uc002wnr.1_Silent_p.A128A|SNAP25_uc002wns.1_Silent_p.A65A|SNAP25_uc010gca.1_Silent_p.A128A|SNAP25_uc010gcb.1_Silent_p.A65A|SNAP25_uc010gcc.1_Intron	NM_130811	NP_570824	P60880	SNP25_HUMAN	synaptosomal-associated protein 25 isoform	128					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome					0					Botulinum Toxin Type A(DB00083)									0.176471	19.343372	24.374517	9	42	KEEP	---	---	---	---	capture		Silent	SNP	10277675	10277675	15330	20	C	A	A	A	262	21	SNAP25	2	2
MYLK2	85366	broad.mit.edu	37	20	30408290	30408290	+	Silent	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30408290A>T	uc002wwq.2	+	c.414A>T	c.(412-414)GCA>GCT	p.A138A		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	138					cardiac muscle contraction|cardiac muscle tissue morphogenesis|regulation of muscle filament sliding	sarcomere	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)							150				0.355556	46.498198	47.320559	16	29	KEEP	---	---	---	---	capture		Silent	SNP	30408290	30408290	10452	20	A	T	T	T	80	7	MYLK2	3	3
XKR7	343702	broad.mit.edu	37	20	30584986	30584986	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30584986C>A	uc002wxe.2	+	c.1466C>A	c.(1465-1467)GCG>GAG	p.A489E		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	489						integral to membrane				ovary(1)|breast(1)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.644444	85.850837	86.649792	29	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30584986	30584986	18017	20	C	A	A	A	351	27	XKR7	1	1
NRSN2	80023	broad.mit.edu	37	20	333933	333933	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:333933T>C	uc002wdi.3	+	c.269T>C	c.(268-270)CTG>CCG	p.L90P	NRSN2_uc002wdj.2_Non-coding_Transcript|NRSN2_uc002wdl.2_Intron	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	neurensin 2	90						integral to membrane|plasma membrane|transport vesicle					0		all_cancers(10;0.0834)												0.264957	69.025098	74.911771	31	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	333933	333933	11068	20	T	C	C	C	715	55	NRSN2	4	4
EMILIN3	90187	broad.mit.edu	37	20	39989924	39989924	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39989924G>T	uc002xjy.1	-	c.2285C>A	c.(2284-2286)CCA>CAA	p.P762Q		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	762						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)												0.4375	21.522279	21.576804	7	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39989924	39989924	5287	20	G	T	T	T	611	47	EMILIN3	2	2
R3HDML	140902	broad.mit.edu	37	20	42965887	42965887	+	Silent	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42965887C>G	uc002xls.1	+	c.90C>G	c.(88-90)ACC>ACG	p.T30T		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	30						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)											0.574468	80.118476	80.344087	27	20	KEEP	---	---	---	---	capture		Silent	SNP	42965887	42965887	13348	20	C	G	G	G	275	22	R3HDML	3	3
PRND	23627	broad.mit.edu	37	20	4705533	4705533	+	Silent	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4705533C>T	uc002wkz.2	+	c.336C>T	c.(334-336)ACC>ACT	p.T112T		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	112	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0														0.226415	30.237053	33.834546	12	41	KEEP	---	---	---	---	capture		Silent	SNP	4705533	4705533	12986	20	C	T	T	T	275	22	PRND	2	2
PPP1R3D	5509	broad.mit.edu	37	20	58514537	58514537	+	Silent	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58514537G>A	uc002ybb.2	-	c.450C>T	c.(448-450)TTC>TTT	p.F150F	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	150					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)											0.266667	18.084494	19.561623	8	22	KEEP	---	---	---	---	capture		Silent	SNP	58514537	58514537	12809	20	G	A	A	A	581	45	PPP1R3D	2	2
DIDO1	11083	broad.mit.edu	37	20	61511339	61511339	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61511339C>T	uc002ydr.1	-	c.5969G>A	c.(5968-5970)GGT>GAT	p.G1990D	DIDO1_uc002yds.1_Missense_Mutation_p.G1990D	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1990	Pro-rich.				apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.318386	193.740461	200.232707	71	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61511339	61511339	4701	20	C	T	T	T	234	18	DIDO1	2	2
ANGPT4	51378	broad.mit.edu	37	20	853683	853683	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:853683C>A	uc002wei.2	-	c.1432G>T	c.(1432-1434)GGC>TGC	p.G478C	ANGPT4_uc010zpn.1_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	478	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						Pancreas(181;481 2077 3259 31286 49856)								0.302326	33.360415	34.86137	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	853683	853683	615	20	C	A	A	A	299	23	ANGPT4	1	1
PKNOX1	5316	broad.mit.edu	37	21	44438272	44438272	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:44438272G>T	uc002zcq.1	+	c.652G>T	c.(652-654)GTC>TTC	p.V218F	PKNOX1_uc002zcp.1_Missense_Mutation_p.V218F|PKNOX1_uc011aex.1_Missense_Mutation_p.V101F	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	218							sequence-specific DNA binding|specific RNA polymerase II transcription factor activity			large_intestine(2)	2														0.302326	39.874348	41.36541	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44438272	44438272	12407	21	G	T	T	T	520	40	PKNOX1	1	1
KRTAP10-9	386676	broad.mit.edu	37	21	46047872	46047872	+	Missense_Mutation	SNP	T	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46047872T>A	uc002zfp.3	+	c.784T>A	c.(784-786)TGC>AGC	p.C262S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	262						keratin filament					0														0.261682	70.045497	75.551025	28	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46047872	46047872	8831	21	T	A	A	A	819	63	KRTAP10-9	3	3
ADARB1	104	broad.mit.edu	37	21	46603320	46603320	+	Nonsense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46603320C>T	uc002zgy.2	+	c.1291C>T	c.(1291-1293)CGA>TGA	p.R431*	ADARB1_uc002zgr.2_Nonsense_Mutation_p.R431*|ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Nonsense_Mutation_p.R431*|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Nonsense_Mutation_p.R431*|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	431	A to I editase.				adenosine to inosine editing|base conversion or substitution editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding				0				Colorectal(79;0.115)										0.117647	4.477022	9.362839	4	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46603320	46603320	283	21	C	T	T	T	347	27	ADARB1	5	1
POTEH	23784	broad.mit.edu	37	22	16287667	16287667	+	Silent	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:16287667C>T	uc010gqp.2	-	c.219G>A	c.(217-219)AGG>AGA	p.R73R	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	73											0														0.170029	112.624338	148.5268	59	288	KEEP	---	---	---	---	capture		Silent	SNP	16287667	16287667	12697	22	C	T	T	T	285	22	POTEH	2	2
ZNF280A	129025	broad.mit.edu	37	22	22869678	22869678	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22869678C>A	uc002zwe.2	-	c.277G>T	c.(277-279)GTG>TTG	p.V93L	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)										0.23301	58.860141	65.685643	24	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22869678	22869678	18406	22	C	A	A	A	221	17	ZNF280A	2	2
SGSM1	129049	broad.mit.edu	37	22	25251515	25251515	+	Splice_Site_SNP	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:25251515G>T	uc003abg.2	+	c.670_splice	c.e8-1	p.I224_splice	SGSM1_uc003abh.2_Splice_Site_SNP_p.I224_splice|SGSM1_uc010guu.1_Splice_Site_SNP_p.I224_splice|SGSM1_uc003abj.2_Splice_Site_SNP_p.I224_splice|SGSM1_uc003abi.1_Splice_Site_SNP_p.I199_splice|SGSM1_uc003abf.2_Splice_Site_SNP_p.I224_splice	NM_001039948	NP_001035037			RUN and TBC1 domain containing 2 isoform 1							Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5														0.344828	27.44086	28.057673	10	19	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	25251515	25251515	14713	22	G	T	T	T	429	33	SGSM1	5	2
SEC14L4	284904	broad.mit.edu	37	22	30886131	30886131	+	Missense_Mutation	SNP	T	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30886131T>G	uc003aid.2	-	c.1184A>C	c.(1183-1185)CAG>CCG	p.Q395P	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.Q380P|SEC14L4_uc003aif.2_Silent_p.R356R	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	395						integral to membrane|intracellular	lipid binding|transporter activity				0					Vitamin E(DB00163)									0.25	14.391751	16.002082	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30886131	30886131	14470	22	T	G	G	G	715	55	SEC14L4	4	4
PNPLA5	150379	broad.mit.edu	37	22	44277543	44277543	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44277543C>A	uc003beg.2	-	c.1094G>T	c.(1093-1095)TGG>TTG	p.W365L	PNPLA5_uc011aqc.1_Missense_Mutation_p.W225L|PNPLA5_uc003beh.2_Missense_Mutation_p.W251L	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	365					lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)												0.388889	21.53321	21.723494	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44277543	44277543	12595	22	C	A	A	A	273	21	PNPLA5	2	2
SHANK3	85358	broad.mit.edu	37	22	51159381	51159381	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:51159381C>A	uc003bne.1	+	c.3168C>A	c.(3166-3168)CCC>CCA	p.P1056P	SHANK3_uc003bnf.1_Silent_p.P503P|SHANK3_uc010hbg.1_Silent_p.P238P	NM_001080420	NP_001073889			SH3 and multiple ankyrin repeat domains 3											central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)										0.333333	11.096972	11.391694	4	8	KEEP	---	---	---	---	capture		Silent	SNP	51159381	51159381	14758	22	C	A	A	A	288	23	SHANK3	1	1
INSIG2	51141	broad.mit.edu	37	2	118854157	118854157	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:118854157C>T	uc002tlk.2	+	c.25C>T	c.(25-27)CCT>TCT	p.P9S	INSIG2_uc010yye.1_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	9					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2														0.280488	59.713839	63.251753	23	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118854157	118854157	8067	2	C	T	T	T	234	18	INSIG2	2	2
UGGT1	56886	broad.mit.edu	37	2	128913089	128913089	+	Missense_Mutation	SNP	A	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128913089A>G	uc002tps.2	+	c.2164A>G	c.(2164-2166)AGA>GGA	p.R722G	UGGT1_uc010fme.1_Missense_Mutation_p.R597G|UGGT1_uc002tpr.2_Missense_Mutation_p.R698G	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	722					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.220588	40.794403	45.678915	15	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128913089	128913089	17499	2	A	G	G	G	192	15	UGGT1	4	4
KCNH7	90134	broad.mit.edu	37	2	163256864	163256864	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163256864C>A	uc002uch.1	-	c.2242G>T	c.(2242-2244)GGG>TGG	p.G748W		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	748	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.247312	52.788942	58.1907	23	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163256864	163256864	8342	2	C	A	A	A	286	22	KCNH7	2	2
PXDN	7837	broad.mit.edu	37	2	1680744	1680744	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1680744C>G	uc002qxa.2	-	c.803G>C	c.(802-804)AGA>ACA	p.R268T	PXDN_uc002qxb.1_Missense_Mutation_p.R268T|PXDN_uc002qxc.1_Missense_Mutation_p.R85T	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	268	Ig-like C2-type 1.				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				0.458333	34.520105	34.5566	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1680744	1680744	13305	2	C	G	G	G	416	32	PXDN	3	3
DNAH7	56171	broad.mit.edu	37	2	196750942	196750942	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196750942C>A	uc002utj.3	-	c.5461G>T	c.(5461-5463)GAC>TAC	p.D1821Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1821					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.21875	33.25453	37.89129	14	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196750942	196750942	4789	2	C	A	A	A	416	32	DNAH7	2	2
ANKRD44	91526	broad.mit.edu	37	2	197964625	197964625	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197964625C>A	uc002uua.1	-	c.940G>T	c.(940-942)GGC>TGC	p.G314C	ANKRD44_uc002utz.3_Missense_Mutation_p.G28C|ANKRD44_uc002uub.2_Missense_Mutation_p.G339C|ANKRD44_uc010zgw.1_Missense_Mutation_p.G267C|ANKRD44_uc002uuc.2_Missense_Mutation_p.G339C	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	339	ANK 11.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)											0.242857	47.392081	51.576363	17	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197964625	197964625	680	2	C	A	A	A	299	23	ANKRD44	1	1
APOB	338	broad.mit.edu	37	2	21257763	21257763	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21257763C>T	uc002red.2	-	c.829G>A	c.(829-831)GGG>AGG	p.G277R		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	277	Vitellogenin.|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.173077	73.992359	94.971976	36	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21257763	21257763	796	2	C	T	T	T	273	21	APOB	2	2
DOCK10	55619	broad.mit.edu	37	2	225739438	225739438	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225739438C>A	uc010fwz.1	-	c.962G>T	c.(961-963)TGC>TTC	p.C321F	DOCK10_uc002vob.2_Missense_Mutation_p.C315F|DOCK10_uc002vod.1_Missense_Mutation_p.C321F	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	321							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.244898	62.57661	68.369287	24	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	225739438	225739438	4869	2	C	A	A	A	325	25	DOCK10	2	2
FSHR	2492	broad.mit.edu	37	2	49190832	49190832	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49190832G>T	uc002rww.2	-	c.1128C>A	c.(1126-1128)GCC>GCA	p.A376A	FSHR_uc002rwx.2_Silent_p.A314A|FSHR_uc010fbn.2_Silent_p.A350A	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	376	Helical; Name=1; (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.298507	54.067006	56.502947	20	47	KEEP	---	---	---	---	capture		Silent	SNP	49190832	49190832	6324	2	G	T	T	T	600	47	FSHR	2	2
WBP1	23559	broad.mit.edu	37	2	74687010	74687010	+	Silent	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74687010G>C	uc002slj.1	+	c.183G>C	c.(181-183)CTG>CTC	p.L61L	WBP1_uc002slh.1_Non-coding_Transcript|INO80B_uc002sli.1_Non-coding_Transcript|WBP1_uc002slk.1_Silent_p.L58L|WBP1_uc002sll.1_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	WW domain binding protein 1	61							WW domain binding				0														0.357143	57.874126	58.883791	20	36	KEEP	---	---	---	---	capture		Silent	SNP	74687010	74687010	17829	2	G	C	C	C	587	46	WBP1	3	3
MYLK	4638	broad.mit.edu	37	3	123419547	123419547	+	Missense_Mutation	SNP	A	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123419547A>G	uc003ego.2	-	c.2768T>C	c.(2767-2769)ATG>ACG	p.M923T	MYLK_uc011bjw.1_Missense_Mutation_p.M923T|MYLK_uc003egp.2_Missense_Mutation_p.M854T|MYLK_uc003egq.2_Missense_Mutation_p.M923T|MYLK_uc003egr.2_Missense_Mutation_p.M854T|MYLK_uc003egs.2_Missense_Mutation_p.M747T|MYLK_uc003egt.2_Missense_Mutation_p.M114T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	923	1-2.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)						766				0.358491	52.955578	53.870451	19	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123419547	123419547	10451	3	A	G	G	G	104	8	MYLK	4	4
SI	6476	broad.mit.edu	37	3	164780204	164780204	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164780204G>T	uc003fei.2	-	c.975C>A	c.(973-975)ATC>ATA	p.I325I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	325	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.245283	30.245157	33.38048	13	40	KEEP	---	---	---	---	capture		Silent	SNP	164780204	164780204	14792	3	G	T	T	T	525	41	SI	2	2
NLGN1	22871	broad.mit.edu	37	3	173997044	173997044	+	Missense_Mutation	SNP	T	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:173997044T>G	uc003fio.1	+	c.1253T>G	c.(1252-1254)TTT>TGT	p.F418C	NLGN1_uc010hww.1_Missense_Mutation_p.F458C|NLGN1_uc003fip.1_Missense_Mutation_p.F418C	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	435	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)											0.42	70.269696	70.548203	21	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173997044	173997044	10864	3	T	G	G	G	832	64	NLGN1	4	4
UTS2D	257313	broad.mit.edu	37	3	190993099	190993099	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:190993099C>A	uc003fsu.2	-	c.276G>T	c.(274-276)AAG>AAT	p.K92N		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	urotensin 2 domain containing precursor	92						extracellular region	hormone activity				0	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)						3				0.46729	154.538133	154.637925	50	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190993099	190993099	17670	3	C	A	A	A	311	24	UTS2D	2	2
FSTL5	56884	broad.mit.edu	37	4	162421230	162421230	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162421230G>T	uc003iqh.2	-	c.1396C>A	c.(1396-1398)CAA>AAA	p.Q466K	FSTL5_uc003iqi.2_Missense_Mutation_p.Q465K|FSTL5_uc010iqv.2_Missense_Mutation_p.Q456K	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	466						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.189189	17.20272	20.546436	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162421230	162421230	6331	4	G	T	T	T	624	48	FSTL5	2	2
ODZ3	55714	broad.mit.edu	37	4	183713936	183713936	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183713936G>T	uc003ivd.1	+	c.6111G>T	c.(6109-6111)ACG>ACT	p.T2037T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2037	YD 13.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.175926	31.370035	42.225112	19	89	KEEP	---	---	---	---	capture		Silent	SNP	183713936	183713936	11241	4	G	T	T	T	483	38	ODZ3	1	1
SNX25	83891	broad.mit.edu	37	4	186272671	186272671	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:186272671C>G	uc003ixh.2	+	c.1882C>G	c.(1882-1884)CTC>GTC	p.L628V	SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Missense_Mutation_p.L132V	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	628	PX.				cell communication|protein transport		phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)										0.235294	67.808547	75.471487	28	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186272671	186272671	15396	4	C	G	G	G	312	24	SNX25	3	3
FAT1	2195	broad.mit.edu	37	4	187584546	187584546	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187584546C>A	uc003izf.2	-	c.3487G>T	c.(3487-3489)GCA>TCA	p.A1163S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1163	Extracellular (Potential).|Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.236111	42.162666	46.73014	17	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187584546	187584546	5925	4	C	A	A	A	338	26	FAT1	2	2
TRIML1	339976	broad.mit.edu	37	4	189063558	189063558	+	Silent	SNP	C	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189063558C>G	uc003izm.1	+	c.657C>G	c.(655-657)ACC>ACG	p.T219T	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	219	Potential.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		Melanoma(31;213 1036 16579 23968 32372)								0.255319	31.067469	33.629528	12	35	KEEP	---	---	---	---	capture		Silent	SNP	189063558	189063558	17100	4	C	G	G	G	275	22	TRIML1	3	3
SLIT2	9353	broad.mit.edu	37	4	20493522	20493522	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20493522T>C	uc003gpr.1	+	c.914T>C	c.(913-915)ATA>ACA	p.I305T	SLIT2_uc003gps.1_Missense_Mutation_p.I305T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	305	LRR 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.18254	43.035689	54.987709	23	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20493522	20493522	15238	4	T	C	C	C	663	51	SLIT2	4	4
SH3BP2	6452	broad.mit.edu	37	4	2834061	2834061	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2834061G>T	uc003gfj.3	+	c.1581G>T	c.(1579-1581)TTG>TTT	p.L527F	SH3BP2_uc003gfi.3_Missense_Mutation_p.L470F|SH3BP2_uc011bvp.1_Missense_Mutation_p.L498F|SH3BP2_uc003gfk.3_Missense_Mutation_p.L470F|SH3BP2_uc003gfl.3_Missense_Mutation_p.L403F|SH3BP2_uc003gfm.3_Missense_Mutation_p.L445F	NM_001145856	NP_001139328	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform b	470	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)										0.4	187.003883	188.362152	62	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2834061	2834061	14736	4	G	T	T	T	620	48	SH3BP2	2	2
ARAP2	116984	broad.mit.edu	37	4	36230472	36230472	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:36230472C>A	uc003gsq.1	-	c.637G>T	c.(637-639)GAC>TAC	p.D213Y	ARAP2_uc003gsr.1_Missense_Mutation_p.D213Y	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	213					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.44382	235.010904	235.497564	79	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36230472	36230472	850	4	C	A	A	A	416	32	ARAP2	2	2
LPHN3	23284	broad.mit.edu	37	4	62935842	62935842	+	Missense_Mutation	SNP	A	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62935842A>G	uc010ihh.2	+	c.3626A>G	c.(3625-3627)AAT>AGT	p.N1209S	LPHN3_uc003hcq.3_Silent_p.Q1226Q|LPHN3_uc003hct.2_Missense_Mutation_p.N593S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1187	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.411765	95.093692	95.554451	28	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62935842	62935842	9290	4	A	G	G	G	52	4	LPHN3	4	4
TBC1D14	57533	broad.mit.edu	37	4	7006648	7006648	+	Nonsense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:7006648G>T	uc011bwg.1	+	c.1348G>T	c.(1348-1350)GAA>TAA	p.E450*	TBC1D14_uc003gjs.3_Nonsense_Mutation_p.E450*|TBC1D14_uc010idh.2_Nonsense_Mutation_p.E170*|TBC1D14_uc011bwh.1_Nonsense_Mutation_p.E63*|TBC1D14_uc003gju.3_5'UTR	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	450	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2														0.315068	60.798817	63.019938	23	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7006648	7006648	16125	4	G	T	T	T	481	37	TBC1D14	5	1
SLCO4C1	353189	broad.mit.edu	37	5	101592825	101592825	+	Missense_Mutation	SNP	T	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:101592825T>G	uc003knm.2	-	c.1463A>C	c.(1462-1464)TAT>TCT	p.Y488S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	488	Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)										0.342105	40.862422	41.699966	13	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101592825	101592825	15227	5	T	G	G	G	637	49	SLCO4C1	4	4
TRPC7	57113	broad.mit.edu	37	5	135549152	135549152	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135549152G>T	uc003lbn.1	-	c.2557C>A	c.(2557-2559)CTG>ATG	p.L853M	TRPC7_uc010jef.1_Missense_Mutation_p.L790M|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Missense_Mutation_p.L784M|TRPC7_uc010jei.1_Missense_Mutation_p.L729M|TRPC7_uc010jej.1_Missense_Mutation_p.L405M	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	854	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.375	18.350999	18.568519	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135549152	135549152	17135	5	G	T	T	T	451	35	TRPC7	2	2
PCDHGB3	56102	broad.mit.edu	37	5	140751709	140751709	+	Missense_Mutation	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140751709A>T	uc003ljw.1	+	c.1748A>T	c.(1747-1749)GAG>GTG	p.E583V	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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.E583V|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	583	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.358491	50.409339	51.343676	19	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140751709	140751709	11984	5	A	T	T	T	143	11	PCDHGB3	3	3
PCDHGA7	56108	broad.mit.edu	37	5	140764230	140764230	+	Silent	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140764230G>C	uc003lka.1	+	c.1764G>C	c.(1762-1764)GTG>GTC	p.V588V	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_uc003ljz.1_Silent_p.V588V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	588	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.342466	73.854935	75.454473	25	48	KEEP	---	---	---	---	capture		Silent	SNP	140764230	140764230	11979	5	G	C	C	C	574	45	PCDHGA7	3	3
DPYSL3	1809	broad.mit.edu	37	5	146780281	146780281	+	Missense_Mutation	SNP	T	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:146780281T>G	uc003loo.2	-	c.1426A>C	c.(1426-1428)ATG>CTG	p.M476L	DPYSL3_uc003lon.1_Missense_Mutation_p.M362L	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	362					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.4	57.338816	57.732863	18	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146780281	146780281	4932	5	T	G	G	G	650	50	DPYSL3	4	4
NMUR2	56923	broad.mit.edu	37	5	151771964	151771964	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151771964G>T	uc003luv.2	-	c.1036C>A	c.(1036-1038)CAC>AAC	p.H346N		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	346	Cytoplasmic (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.416667	92.054087	92.485807	30	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151771964	151771964	10910	5	G	T	T	T	611	47	NMUR2	2	2
TIMD4	91937	broad.mit.edu	37	5	156381546	156381546	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156381546C>A	uc003lwh.2	-	c.280G>T	c.(280-282)GAT>TAT	p.D94Y	TIMD4_uc010jii.2_Missense_Mutation_p.D94Y	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	94	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.479167	68.226095	68.243687	23	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156381546	156381546	16432	5	C	A	A	A	377	29	TIMD4	2	2
ITK	3702	broad.mit.edu	37	5	156649936	156649936	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156649936C>A	uc003lwo.1	+	c.559C>A	c.(559-561)CCT>ACT	p.P187T		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	187	SH3.				cellular defense response|intracellular signal transduction|protein phosphorylation|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(8)|lung(4)|skin(3)|stomach(1)|central_nervous_system(1)	17	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			Esophageal Squamous(70;1378 1469 8785 19883)			p.P187T(NCIH1793-Tumor)	330				0.428571	67.089345	67.338273	24	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156649936	156649936	8213	5	C	A	A	A	390	30	ITK	2	2
ADAMTS2	9509	broad.mit.edu	37	5	178634669	178634669	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178634669G>T	uc003mjw.2	-	c.736C>A	c.(736-738)CTA>ATA	p.L246I	ADAMTS2_uc011dgm.1_Missense_Mutation_p.L246I	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	246					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.2375	44.181354	49.221751	19	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178634669	178634669	266	5	G	T	T	T	451	35	ADAMTS2	2	2
PLEKHG4B	153478	broad.mit.edu	37	5	182169	182169	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:182169C>A	uc003jak.2	+	c.3547C>A	c.(3547-3549)CCC>ACC	p.P1183T		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1183	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)										0.216418	58.871213	68.873334	29	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182169	182169	12498	5	C	A	A	A	286	22	PLEKHG4B	2	2
SLC1A3	6507	broad.mit.edu	37	5	36679962	36679962	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36679962G>T	uc003jkj.3	+	c.1094G>T	c.(1093-1095)AGT>ATT	p.S365I	SLC1A3_uc011cox.1_Missense_Mutation_p.S258I|SLC1A3_uc010iuy.2_Missense_Mutation_p.S365I	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	365					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)									0.595745	91.387206	91.765026	28	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36679962	36679962	14929	5	G	T	T	T	455	35	SLC1A3	2	2
MAP1B	4131	broad.mit.edu	37	5	71491582	71491582	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71491582C>A	uc003kbw.3	+	c.2400C>A	c.(2398-2400)GGC>GGA	p.G800G	MAP1B_uc010iyw.1_Silent_p.G817G|MAP1B_uc010iyx.1_Silent_p.G674G|MAP1B_uc010iyy.1_Silent_p.G674G	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	800						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		Melanoma(17;367 822 11631 31730 47712)								0.416667	58.411229	58.695932	20	28	KEEP	---	---	---	---	capture		Silent	SNP	71491582	71491582	9611	5	C	A	A	A	314	25	MAP1B	2	2
ASCC3	10973	broad.mit.edu	37	6	101075568	101075568	+	Nonsense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:101075568G>A	uc003pqk.2	-	c.4540C>T	c.(4540-4542)CGA>TGA	p.R1514*		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)	5		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)										0.228571	20.899808	23.252604	8	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101075568	101075568	1051	6	G	A	A	A	506	39	ASCC3	5	1
GRIK2	2898	broad.mit.edu	37	6	102247541	102247541	+	Missense_Mutation	SNP	T	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102247541T>A	uc003pqp.3	+	c.970T>A	c.(970-972)TAT>AAT	p.Y324N	GRIK2_uc003pqn.2_Missense_Mutation_p.Y324N|GRIK2_uc003pqo.3_Missense_Mutation_p.Y324N|GRIK2_uc010kcw.2_Missense_Mutation_p.Y324N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	324	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|breast(1)|pancreas(1)	4		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)									0.298387	105.130125	109.633249	37	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102247541	102247541	7053	6	T	A	A	A	741	57	GRIK2	3	3
THEMIS	387357	broad.mit.edu	37	6	128176268	128176268	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128176268C>T	uc011ebt.1	-	c.157G>A	c.(157-159)GGT>AGT	p.G53S	THEMIS_uc010kfa.2_5'UTR|THEMIS_uc003qbi.2_Missense_Mutation_p.G53S|THEMIS_uc010kfb.2_Missense_Mutation_p.G18S	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	53	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)	2														0.358974	40.353242	41.030096	14	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128176268	128176268	16388	6	C	T	T	T	273	21	THEMIS	2	2
TAAR6	319100	broad.mit.edu	37	6	132892437	132892437	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132892437T>C	uc011eck.1	+	c.977T>C	c.(976-978)GTA>GCA	p.V326A		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	326	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)	2	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)										0.351852	119.62357	121.711376	38	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132892437	132892437	16013	6	T	C	C	C	741	57	TAAR6	4	4
THBS2	7058	broad.mit.edu	37	6	169648565	169648565	+	Nonsense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169648565C>A	uc003qwt.2	-	c.556G>T	c.(556-558)GAA>TAA	p.E186*		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	186	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.317073	97.541702	101.170527	39	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	169648565	169648565	16382	6	C	A	A	A	390	30	THBS2	5	2
TRIM39	56658	broad.mit.edu	37	6	30303750	30303750	+	Missense_Mutation	SNP	A	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30303750A>C	uc010jrz.2	+	c.778A>C	c.(778-780)AAG>CAG	p.K260Q	TRIM39_uc003npz.2_Missense_Mutation_p.K260Q|TRIM39_uc003nqb.2_Missense_Mutation_p.K260Q|TRIM39_uc003nqc.2_Missense_Mutation_p.K260Q|TRIM39_uc010jsa.1_Missense_Mutation_p.K260Q	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	260					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3														0.263158	26.585086	28.555966	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30303750	30303750	17057	6	A	C	C	C	169	13	TRIM39	4	4
COL11A2	1302	broad.mit.edu	37	6	33156932	33156932	+	Missense_Mutation	SNP	A	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33156932A>T	uc003ocx.1	-	c.266T>A	c.(265-267)GTT>GAT	p.V89D	COL11A2_uc003ocy.1_Missense_Mutation_p.V89D|COL11A2_uc003ocz.1_Missense_Mutation_p.V89D|COL11A2_uc003oda.2_Missense_Mutation_p.V89D	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	89	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.431818	57.418322	57.596584	19	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33156932	33156932	3806	6	A	T	T	T	26	2	COL11A2	3	3
PGC	5225	broad.mit.edu	37	6	41712181	41712181	+	Silent	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41712181G>A	uc003ora.1	-	c.282C>T	c.(280-282)TCC>TCT	p.S94S		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	94					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)											0.291667	59.842493	62.644374	21	51	KEEP	---	---	---	---	capture		Silent	SNP	41712181	41712181	12208	6	G	A	A	A	444	35	PGC	2	2
OPN5	221391	broad.mit.edu	37	6	47775959	47775959	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47775959G>C	uc003ozc.2	+	c.826G>C	c.(826-828)GCT>CCT	p.A276P	OPN5_uc003ozd.2_Missense_Mutation_p.A111P	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	276	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						Melanoma(28;740 973 10870 42660 45347)								0.26087	95.131477	102.287627	36	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47775959	47775959	11289	6	G	C	C	C	442	34	OPN5	3	3
CRISP3	10321	broad.mit.edu	37	6	49704164	49704164	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49704164C>A	uc003ozs.2	-	c.129G>T	c.(127-129)GTG>GTT	p.V43V		NM_006061	NP_006052	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3 precursor	43					innate immune response	proteinaceous extracellular matrix|specific granule				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)											0.28	141.835093	150.529658	56	144	KEEP	---	---	---	---	capture		Silent	SNP	49704164	49704164	4020	6	C	A	A	A	366	29	CRISP3	2	2
GSTA5	221357	broad.mit.edu	37	6	52699031	52699031	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52699031G>C	uc003pba.1	-	c.322C>G	c.(322-324)CTT>GTT	p.L108V		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	108	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)									0.291925	142.976939	149.210084	47	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52699031	52699031	7114	6	G	C	C	C	429	33	GSTA5	3	3
C6orf142	90523	broad.mit.edu	37	6	53883845	53883845	+	Nonsense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:53883845G>T	uc003pcf.2	+	c.19G>T	c.(19-21)GAA>TAA	p.E7*	C6orf142_uc003pcg.3_Nonsense_Mutation_p.E7*	NM_138569	NP_612636	Q5VWP3	CF142_HUMAN	hypothetical protein LOC90523	7											0	Lung NSC(77;0.0317)													0.170732	13.799166	18.003531	7	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	53883845	53883845	2437	6	G	T	T	T	585	45	C6orf142	5	2
HMGCLL1	54511	broad.mit.edu	37	6	55360355	55360355	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55360355G>T	uc003pcn.2	-	c.747C>A	c.(745-747)GAC>GAA	p.D249E	HMGCLL1_uc003pco.2_Missense_Mutation_p.D219E|HMGCLL1_uc010jzx.2_Missense_Mutation_p.D120E|HMGCLL1_uc011dxc.1_Missense_Mutation_p.D187E|HMGCLL1_uc011dxd.1_Missense_Mutation_p.D116E|HMGCLL1_uc011dxe.1_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	249							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			Ovarian(35;840 893 7837 15538 42887)								0.436364	79.91621	80.105146	24	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55360355	55360355	7521	6	G	T	T	T	620	48	HMGCLL1	2	2
BAI3	577	broad.mit.edu	37	6	69685223	69685223	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69685223G>T	uc003pev.3	+	c.1725G>T	c.(1723-1725)TTG>TTT	p.L575F	BAI3_uc010kak.2_Missense_Mutation_p.L575F	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	575	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				0.235294	28.170686	31.553122	12	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69685223	69685223	1321	6	G	T	T	T	594	46	BAI3	2	2
SFRS18	25957	broad.mit.edu	37	6	99856015	99856015	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:99856015T>C	uc003ppo.3	-	c.806A>G	c.(805-807)AAG>AGG	p.K269R	SFRS18_uc003ppp.3_Missense_Mutation_p.K269R|SFRS18_uc011eag.1_Missense_Mutation_p.K269R|SFRS18_uc003ppr.2_Missense_Mutation_p.K269R	NM_032870	NP_116259	Q8TF01	SFR18_HUMAN	splicing factor, arginine/serine-rich 130	269	Potential.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)										0.336283	117.039116	119.706884	38	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99856015	99856015	14664	6	T	C	C	C	728	56	SFRS18	4	4
LRGUK	136332	broad.mit.edu	37	7	133824234	133824234	+	Silent	SNP	C	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:133824234C>T	uc003vrm.1	+	c.451C>T	c.(451-453)CTA>TTA	p.L151L		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	151	LRR 2.						ATP binding|kinase activity			lung(2)|kidney(1)|skin(1)	4										973				0.270833	37.753711	40.027129	13	35	KEEP	---	---	---	---	capture		Silent	SNP	133824234	133824234	9316	7	C	T	T	T	415	32	LRGUK	2	2
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140481402C>A	uc003vwc.3	-	c.1406G>T	c.(1405-1407)GGA>GTA	p.G469V		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	469	ATP (By similarity).|Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(18)|p.G469V(12)|p.G469S(6)|p.G469E(5)|p.G469R(1)	KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		451				0.306306	87.35312	91.046458	34	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140481402	140481402	1527	7	C	A	A	A	390	30	BRAF	2	2
MLL3	58508	broad.mit.edu	37	7	151945057	151945057	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151945057G>A	uc003wla.2	-	c.2462C>T	c.(2461-2463)CCA>CTA	p.P821L		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	821					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.081301	5.188985	49.041662	20	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151945057	151945057	10012	7	G	A	A	A	611	47	MLL3	2	2
HOXA2	3199	broad.mit.edu	37	7	27140486	27140486	+	Silent	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27140486T>C	uc003syh.2	-	c.990A>G	c.(988-990)ACA>ACG	p.T330T		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	330						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.464286	75.946768	76.008518	26	30	KEEP	---	---	---	---	capture		Silent	SNP	27140486	27140486	7584	7	T	C	C	C	704	55	HOXA2	4	4
HOXA7	3204	broad.mit.edu	37	7	27194740	27194740	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27194740T>C	uc003sys.2	-	c.481A>G	c.(481-483)ATT>GTT	p.I161V	HOXA6_uc003syq.1_5'Flank	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	161	Homeobox.				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|transcription factor binding|transcription repressor activity				0														0.339286	90.993059	93.561242	38	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27194740	27194740	7589	7	T	C	C	C	663	51	HOXA7	4	4
ELMO1	9844	broad.mit.edu	37	7	37053009	37053009	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37053009C>A	uc003tfk.1	-	c.1332G>T	c.(1330-1332)ATG>ATT	p.M444I	ELMO1_uc011kbc.1_Missense_Mutation_p.M348I|ELMO1_uc010kxg.1_Missense_Mutation_p.M444I	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	444	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)	3														0.47619	33.649712	33.660005	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37053009	37053009	5257	7	C	A	A	A	221	17	ELMO1	2	2
WBSCR17	64409	broad.mit.edu	37	7	71036273	71036273	+	Silent	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:71036273C>A	uc003tvy.2	+	c.966C>A	c.(964-966)ACC>ACA	p.T322T	WBSCR17_uc003tvz.2_Silent_p.T21T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	322	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)												0.309091	44.579732	46.353701	17	38	KEEP	---	---	---	---	capture		Silent	SNP	71036273	71036273	17836	7	C	A	A	A	275	22	WBSCR17	2	2
ABCB1	5243	broad.mit.edu	37	7	87168583	87168583	+	Splice_Site_SNP	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87168583C>A	uc003uiz.1	-	c.2397_splice	c.e20+1	p.Q799_splice	ABCB1_uc011khc.1_Splice_Site_SNP_p.Q735_splice	NM_000927	NP_000918			ATP-binding cassette, subfamily B, member 1							apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.285714	24.089482	25.242499	8	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	87168583	87168583	41	7	C	A	A	A	234	18	ABCB1	5	2
PURG	29942	broad.mit.edu	37	8	30889896	30889896	+	Silent	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30889896G>T	uc003xin.2	-	c.403C>A	c.(403-405)CGG>AGG	p.R135R	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.R135R	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	135	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)										0.25	96.714946	104.840589	36	108	KEEP	---	---	---	---	capture		Silent	SNP	30889896	30889896	13287	8	G	T	T	T	506	39	PURG	1	1
CHRNB3	1142	broad.mit.edu	37	8	42591742	42591742	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42591742G>T	uc003xpi.1	+	c.1358G>T	c.(1357-1359)TGG>TTG	p.W453L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	453					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.203822	73.623365	86.399185	32	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42591742	42591742	3526	8	G	T	T	T	611	47	CHRNB3	2	2
FNTA	2339	broad.mit.edu	37	8	42914258	42914258	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42914258T>C	uc003xps.2	+	c.224T>C	c.(223-225)ATA>ACA	p.I75T	FNTA_uc003xpt.2_Intron|FNTA_uc003xpu.2_Intron|FNTA_uc003xpv.2_Intron	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	75					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)							148				0.366667	33.822362	34.289025	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42914258	42914258	6219	8	T	C	C	C	637	49	FNTA	4	4
PXDNL	137902	broad.mit.edu	37	8	52252232	52252232	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52252232G>T	uc003xqu.3	-	c.4098C>A	c.(4096-4098)AGC>AGA	p.S1366R	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1366					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.247423	61.612474	67.204576	24	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52252232	52252232	13306	8	G	T	T	T	594	46	PXDNL	2	2
RP1	6101	broad.mit.edu	37	8	55542556	55542556	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55542556C>A	uc003xsd.1	+	c.6114C>A	c.(6112-6114)CAC>CAA	p.H2038Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2038					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			Colon(91;1014 1389 7634 14542 40420)								0.219178	39.1564	44.465168	16	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55542556	55542556	14011	8	C	A	A	A	220	17	RP1	2	2
ERICH1	157697	broad.mit.edu	37	8	623844	623844	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:623844G>C	uc003wph.2	-	c.508C>G	c.(508-510)CAA>GAA	p.Q170E	ERICH1_uc011kwh.1_Missense_Mutation_p.Q170E|ERICH1_uc003wpe.1_Missense_Mutation_p.Q76E|ERICH1_uc003wpi.2_5'UTR	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	170										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)										0.144737	22.289071	31.507748	11	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	623844	623844	5423	8	G	C	C	C	598	46	ERICH1	3	3
KCNB2	9312	broad.mit.edu	37	8	73848519	73848519	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:73848519G>C	uc003xzb.2	+	c.929G>C	c.(928-930)AGG>ACG	p.R310T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	310	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4	Breast(64;0.137)		Epithelial(68;0.105)											0.305556	59.236943	61.657901	22	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73848519	73848519	8318	8	G	C	C	C	455	35	KCNB2	3	3
OSR2	116039	broad.mit.edu	37	8	99961644	99961644	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99961644C>A	uc011lgx.1	+	c.827C>A	c.(826-828)CCG>CAG	p.P276Q	OSR2_uc010mbn.2_Missense_Mutation_p.P155Q|OSR2_uc003yir.2_Missense_Mutation_p.P155Q|OSR2_uc003yiq.2_Missense_Mutation_p.P155Q	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	155					bone morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|mesonephros development|metanephros development|middle ear morphogenesis|odontogenesis|osteoblast proliferation|palate development|positive regulation of epithelial cell proliferation|positive regulation of gene expression	nucleus	sequence-specific DNA binding|transcription activator activity|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)											0.198758	77.485506	91.023547	32	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99961644	99961644	11705	8	C	A	A	A	299	23	OSR2	1	1
GAPVD1	26130	broad.mit.edu	37	9	128094322	128094322	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:128094322G>T	uc004bpp.2	+	c.2291G>T	c.(2290-2292)GGC>GTC	p.G764V	GAPVD1_uc011lzs.1_Missense_Mutation_p.G764V|GAPVD1_uc004bpq.2_Missense_Mutation_p.G764V|GAPVD1_uc010mwx.2_Missense_Mutation_p.G764V|GAPVD1_uc004bpr.2_Missense_Mutation_p.G743V|GAPVD1_uc004bps.2_Missense_Mutation_p.G764V|GAPVD1_uc010mwy.1_Missense_Mutation_p.G623V	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	764					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4														0.388889	20.655015	20.837612	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128094322	128094322	6503	9	G	T	T	T	546	42	GAPVD1	2	2
SLC2A6	11182	broad.mit.edu	37	9	136340607	136340607	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136340607G>T	uc004cee.2	-	c.689C>A	c.(688-690)GCC>GAC	p.A230D	SLC2A6_uc004cef.2_Missense_Mutation_p.A230D|SLC2A6_uc004ceg.2_Missense_Mutation_p.A207D|SLC2A6_uc011mdj.1_3'UTR	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	230	Cytoplasmic (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)										0.25	5.31815	6.31105	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136340607	136340607	15046	9	G	T	T	T	546	42	SLC2A6	2	2
JAK2	3717	broad.mit.edu	37	9	5050756	5050756	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5050756G>C	uc010mhm.2	+	c.539G>C	c.(538-540)GGG>GCG	p.G180A	JAK2_uc003ziw.2_Missense_Mutation_p.G180A	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	180	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28274)|lung(5)|breast(4)|ovary(1)|liver(1)	28285	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)				1		432				0.365385	55.01231	55.840513	19	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5050756	5050756	8242	9	G	C	C	C	559	43	JAK2	3	3
SPRY3	10251	broad.mit.edu	37	X	155003948	155003948	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:155003948C>A	uc004fnq.1	+	c.415C>A	c.(415-417)CAC>AAC	p.H139N	SPRY3_uc010nvl.1_Intron	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	139					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.35514	105.373621	107.327928	38	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155003948	155003948	15621	23	C	A	A	A	325	25	SPRY3	2	2
HDAC6	10013	broad.mit.edu	37	X	48661577	48661577	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48661577G>T	uc011mmi.1	+	c.265G>T	c.(265-267)GTG>TTG	p.V89L	HDAC6_uc004dkr.1_Missense_Mutation_p.V89L|HDAC6_uc004dks.1_Missense_Mutation_p.V89L|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.V89L|HDAC6_uc004dku.3_Missense_Mutation_p.V89L|HDAC6_uc011mmj.1_Missense_Mutation_p.V34L|HDAC6_uc011mmk.1_Missense_Mutation_p.V70L	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	89	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of hydrogen peroxide metabolic process|negative regulation of oxidoreductase activity|negative regulation of proteolysis|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of microtubule-based movement|regulation of receptor activity|regulation of transcription, DNA-dependent|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|specific transcriptional repressor activity|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)	3					Vorinostat(DB02546)	Pancreas(112;205 1675 2305 8976 15959)				170				0.818182	30.178269	31.223342	9	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48661577	48661577	7294	23	G	T	T	T	572	44	HDAC6	2	2
XAGE5	170627	broad.mit.edu	37	X	52844156	52844156	+	Silent	SNP	A	G	G			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:52844156A>G	uc004drd.1	+	c.219A>G	c.(217-219)TCA>TCG	p.S73S		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	73										ovary(1)	1														0.571429	34.598348	34.691178	12	9	KEEP	---	---	---	---	capture		Silent	SNP	52844156	52844156	18002	23	A	G	G	G	54	5	XAGE5	4	4
ATP7A	538	broad.mit.edu	37	X	77298209	77298209	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77298209G>T	uc004ecx.3	+	c.3928G>T	c.(3928-3930)GCA>TCA	p.A1310S		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1310	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0														0.589286	213.053005	213.830758	66	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77298209	77298209	1209	23	G	T	T	T	546	42	ATP7A	2	2
KLHL4	56062	broad.mit.edu	37	X	86869526	86869526	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86869526G>C	uc004efa.2	+	c.680G>C	c.(679-681)GGA>GCA	p.G227A	KLHL4_uc004efb.2_Missense_Mutation_p.G227A	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 2	227	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.722222	93.465219	95.06486	26	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86869526	86869526	8705	23	G	C	C	C	533	41	KLHL4	3	3
CRB1	23418	broad.mit.edu	37	1	197390533	197390533	+	Frame_Shift_Del	DEL	C	-	-			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197390533_197390533delC	uc001gtz.2	+	c.1575_1575delC	c.(1573-1575)TTCfs	p.F525fs	CRB1_uc010poz.1_Frame_Shift_Del_p.F456fs|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Frame_Shift_Del_p.F413fs|CRB1_uc010ppb.1_Frame_Shift_Del_p.F525fs|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.1_Frame_Shift_Del_p.F6fs|CRB1_uc001gub.1_Frame_Shift_Del_p.F174fs	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	525	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.32			40	86		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	197390533	197390533	3987	1	C	-	-	-	389	30	CRB1	5	5
FAM177B	400823	broad.mit.edu	37	1	222923324	222923324	+	Frame_Shift_Del	DEL	A	-	-			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222923324_222923324delA	uc001hnt.2	+	c.401_401delA	c.(400-402)GAAfs	p.E134fs	FAM177B_uc009xeb.2_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	134										ovary(1)	1														0.39			24	37		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	222923324	222923324	5708	1	A	-	-	-	117	9	FAM177B	5	5
MYT1L	23040	broad.mit.edu	37	2	1842936	1842936	+	Frame_Shift_Del	DEL	A	-	-			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1842936_1842936delA	uc002qxe.2	-	c.3065_3065delT	c.(3064-3066)TTCfs	p.F1022fs	MYT1L_uc002qxd.2_Frame_Shift_Del_p.F1020fs|MYT1L_uc010ewk.2_Frame_Shift_Del_p.F18fs	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1022	C2HC-type 6.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.58			22	16		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	1842936	1842936	10502	2	A	-	-	-	117	9	MYT1L	5	5
LRIG1	26018	broad.mit.edu	37	3	66465421	66465422	+	Frame_Shift_Ins	INS	-	A	A			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:66465421_66465422insA	uc003dmx.2	-	c.569_570insT	c.(568-570)CTGfs	p.L190fs	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Frame_Shift_Ins_p.L190fs	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	190	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(2)|skin(1)	3		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)										0.44			38	49		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	66465421	66465422	9317	3	-	A	A	A	314	25	LRIG1	5	5
TBC1D1	23216	broad.mit.edu	37	4	38091623	38091623	+	Frame_Shift_Del	DEL	C	-	-			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38091623_38091623delC	uc003gtb.2	+	c.2121_2121delC	c.(2119-2121)GGCfs	p.G707fs	TBC1D1_uc011byd.1_Frame_Shift_Del_p.G801fs|TBC1D1_uc010ifd.2_Frame_Shift_Del_p.G494fs|TBC1D1_uc011byf.1_Frame_Shift_Del_p.G578fs	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	707						nucleus	Rab GTPase activator activity			ovary(1)	1														0.36			66	119		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	38091623	38091623	16119	4	C	-	-	-	327	26	TBC1D1	5	5
WDR85	92715	broad.mit.edu	37	9	140459346	140459346	+	Frame_Shift_Del	DEL	T	-	-			TCGA-75-5146-01	TCGA-75-5146-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140459346_140459346delT	uc004cnk.1	-	c.775_775delA	c.(775-777)AGCfs	p.S259fs	WDR85_uc004cnj.1_5'UTR|WDR85_uc004cnl.1_Frame_Shift_Del_p.S83fs|WDR85_uc004cnm.1_Frame_Shift_Del_p.S20fs|WDR85_uc004cnn.1_Intron|WDR85_uc010ncl.1_Frame_Shift_Del_p.S20fs	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	WD repeat domain 85	259	WD 2.				peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140459346	140459346	17906	9	T	-	-	-	728	56	WDR85	5	5
