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
HPSE2	60495	broad.mit.edu	37	10	100374754	100374754	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:100374754C>A	uc001kpn.1	-	c.1227G>T	c.(1225-1227)ATG>ATT	p.M409I	HPSE2_uc009xwc.1_Missense_Mutation_p.M399I|HPSE2_uc001kpo.1_Missense_Mutation_p.M341I|HPSE2_uc009xwd.1_Missense_Mutation_p.M287I	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	409					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)										0.11413	23.671249	50.659717	21	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100374754	100374754	7637	10	C	A	A	A	325	25	HPSE2	2	2
PDZD7	79955	broad.mit.edu	37	10	102783726	102783726	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102783726A>G	uc001ksn.2	-	c.326T>C	c.(325-327)CTG>CCG	p.L109P	PDZD7_uc001kso.1_Missense_Mutation_p.L109P	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	109	PDZ 1.				response to stimulus|visual perception	cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)	2				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)										0.13	13.586221	26.9975	13	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102783726	102783726	12125	10	A	G	G	G	91	7	PDZD7	4	4
SH3PXD2A	9644	broad.mit.edu	37	10	105362155	105362155	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105362155G>T	uc001kxj.1	-	c.2736C>A	c.(2734-2736)AAC>AAA	p.N912K	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.N747K|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.N789K|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.N747K|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.N855K	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	940	Potential.				cell communication	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)										0.125	4.517199	13.426131	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105362155	105362155	14748	10	G	T	T	T	568	44	SH3PXD2A	2	2
NHLRC2	374354	broad.mit.edu	37	10	115664629	115664629	+	Silent	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115664629A>G	uc001lax.1	+	c.1758A>G	c.(1756-1758)GAA>GAG	p.E586E	NHLRC2_uc001lay.1_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	586					cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)										0.191667	48.844992	59.533136	23	97	KEEP	---	---	---	---	capture		Silent	SNP	115664629	115664629	10806	10	A	G	G	G	11	1	NHLRC2	4	4
SLC18A2	6571	broad.mit.edu	37	10	119014861	119014861	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119014861G>T	uc001ldd.1	+	c.774G>T	c.(772-774)CTG>CTT	p.L258L	SLC18A2_uc009xyy.1_Silent_p.L55L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	258	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)									0.1875	24.863175	30.715275	12	52	KEEP	---	---	---	---	capture		Silent	SNP	119014861	119014861	14922	10	G	T	T	T	600	47	SLC18A2	2	2
TACC2	10579	broad.mit.edu	37	10	123970361	123970361	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123970361A>T	uc001lfv.2	+	c.6421A>T	c.(6421-6423)ACC>TCC	p.T2141S	TACC2_uc001lfw.2_Missense_Mutation_p.T287S|TACC2_uc009xzx.2_Missense_Mutation_p.T2096S|TACC2_uc010qtv.1_Missense_Mutation_p.T2145S|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.T219S|TACC2_uc001lga.2_Missense_Mutation_p.T219S|TACC2_uc009xzy.2_Missense_Mutation_p.T219S|TACC2_uc001lgb.2_Missense_Mutation_p.T176S|TACC2_uc010qtw.1_Missense_Mutation_p.T236S	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2141						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.202186	77.366248	92.462862	37	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123970361	123970361	16023	10	A	T	T	T	78	6	TACC2	3	3
C10orf137	26098	broad.mit.edu	37	10	127431758	127431758	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127431758C>G	uc001liq.1	+	c.2503C>G	c.(2503-2505)CAA>GAA	p.Q835E	C10orf137_uc001lin.2_Missense_Mutation_p.Q801E|C10orf137_uc001lio.1_Missense_Mutation_p.Q801E|C10orf137_uc001lip.1_Missense_Mutation_p.Q539E|C10orf137_uc001lis.1_Missense_Mutation_p.Q161E	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)	8		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.233333	17.909675	19.862276	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127431758	127431758	1631	10	C	G	G	G	221	17	C10orf137	3	3
LYZL1	84569	broad.mit.edu	37	10	29581544	29581544	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:29581544G>T	uc001iul.2	+	c.374G>T	c.(373-375)AGC>ATC	p.S125I		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	79					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Breast(68;0.203)												0.204082	21.23439	25.20826	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29581544	29581544	9508	10	G	T	T	T	442	34	LYZL1	2	2
BMS1	9790	broad.mit.edu	37	10	43292652	43292652	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43292652G>T	uc001jaj.2	+	c.1960G>T	c.(1960-1962)GAA>TAA	p.E654*		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	654					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.212903	71.193342	82.997861	33	122	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43292652	43292652	1497	10	G	T	T	T	429	33	BMS1	5	2
OGDHL	55753	broad.mit.edu	37	10	50952126	50952126	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50952126G>T	uc009xog.2	-	c.1856C>A	c.(1855-1857)CCA>CAA	p.P619Q	OGDHL_uc001jie.2_Missense_Mutation_p.P592Q|OGDHL_uc010qgt.1_Missense_Mutation_p.P535Q|OGDHL_uc010qgu.1_Missense_Mutation_p.P383Q|OGDHL_uc009xoh.2_Missense_Mutation_p.P383Q	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	592					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.176471	6.415317	8.091596	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50952126	50952126	11245	10	G	T	T	T	611	47	OGDHL	2	2
OGDHL	55753	broad.mit.edu	37	10	50952128	50952128	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50952128G>T	uc009xog.2	-	c.1854C>A	c.(1852-1854)TGC>TGA	p.C618*	OGDHL_uc001jie.2_Nonsense_Mutation_p.C591*|OGDHL_uc010qgt.1_Nonsense_Mutation_p.C534*|OGDHL_uc010qgu.1_Nonsense_Mutation_p.C382*|OGDHL_uc009xoh.2_Nonsense_Mutation_p.C382*	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	591					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.1875	6.561892	7.989751	3	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50952128	50952128	11245	10	G	T	T	T	542	42	OGDHL	5	2
PCDH15	65217	broad.mit.edu	37	10	55582372	55582372	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55582372G>A	uc010qhy.1	-	c.5135C>T	c.(5134-5136)CCT>CTT	p.P1712L	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1702L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1665L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1636L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1707L|PCDH15_uc010qia.1_Missense_Mutation_p.P1685L|PCDH15_uc001jju.1_Missense_Mutation_p.P1705L|PCDH15_uc010qib.1_Missense_Mutation_p.P1682L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1705	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.08	1.189131	14.685477	6	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55582372	55582372	11931	10	G	A	A	A	455	35	PCDH15	2	2
LRRTM3	347731	broad.mit.edu	37	10	68687247	68687247	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:68687247C>G	uc001jmz.1	+	c.573C>G	c.(571-573)AAC>AAG	p.N191K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.N191K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	191	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(1)	1														0.188034	52.381462	63.03941	22	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68687247	68687247	9417	10	C	G	G	G	233	18	LRRTM3	3	3
LRIT1	26103	broad.mit.edu	37	10	85992129	85992129	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85992129C>A	uc001kcz.1	-	c.1426G>T	c.(1426-1428)GTG>TTG	p.V476L		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	476	Fibronectin type-III.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0														0.15	4.711675	7.061036	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85992129	85992129	9320	10	C	A	A	A	221	17	LRIT1	2	2
IFIT1B	439996	broad.mit.edu	37	10	91144373	91144373	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91144373C>A	uc001kgh.2	+	c.1303C>A	c.(1303-1305)CGG>AGG	p.R435R	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	435							binding				0														0.198444	114.982352	136.738872	51	206	KEEP	---	---	---	---	capture		Silent	SNP	91144373	91144373	7823	10	C	A	A	A	243	19	IFIT1B	1	1
HECTD2	143279	broad.mit.edu	37	10	93258885	93258885	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93258885T>C	uc010qnm.1	+	c.1940T>C	c.(1939-1941)GTG>GCG	p.V647A	LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.V643A|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Missense_Mutation_p.V232A|HECTD2_uc001khn.1_Missense_Mutation_p.V293A	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	643	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						NSCLC(12;376 469 1699 39910 41417)								0.096774	2.200956	12.311097	6	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93258885	93258885	7323	10	T	C	C	C	767	59	HECTD2	4	4
CYP2C19	1557	broad.mit.edu	37	10	96535174	96535174	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96535174G>T	uc010qnz.1	+	c.359G>T	c.(358-360)TGG>TTG	p.W120L	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.W98L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	120					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)	5		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)									0.236559	103.399436	115.204964	44	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96535174	96535174	4331	10	G	T	T	T	611	47	CYP2C19	2	2
MMP27	64066	broad.mit.edu	37	11	102573850	102573850	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102573850C>A	uc001phd.1	-	c.342_splice	c.e3-1	p.R114_splice		NM_022122	NP_071405			matrix metalloproteinase 27 precursor						collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)										0.138889	6.249494	10.789708	5	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	102573850	102573850	10055	11	C	A	A	A	416	32	MMP27	5	2
CASP4	837	broad.mit.edu	37	11	104825561	104825561	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:104825561C>A	uc001pid.1	-	c.175G>T	c.(175-177)GAC>TAC	p.D59Y	CASP4_uc001pib.1_Missense_Mutation_p.D3Y|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Missense_Mutation_p.D59Y|CASP4_uc010ruy.1_Missense_Mutation_p.D59Y	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	59	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)						204				0.177632	51.231038	66.110651	27	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104825561	104825561	2792	11	C	A	A	A	416	32	CASP4	2	2
KDELC2	143888	broad.mit.edu	37	11	108348368	108348368	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108348368T>C	uc001pkj.2	-	c.1364A>G	c.(1363-1365)CAC>CGC	p.H455R	KDELC2_uc001pki.2_Missense_Mutation_p.H399R	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor	455						endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)										0.185841	37.111167	47.56985	21	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108348368	108348368	8424	11	T	C	C	C	767	59	KDELC2	4	4
DRD2	1813	broad.mit.edu	37	11	113295303	113295303	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113295303C>A	uc001pnz.2	-	c.71G>T	c.(70-72)GGG>GTG	p.G24V	DRD2_uc010rwv.1_Missense_Mutation_p.G24V|DRD2_uc001poa.3_Missense_Mutation_p.G24V|DRD2_uc001pob.3_Missense_Mutation_p.G24V|DRD2_uc009yyr.1_Missense_Mutation_p.G24V	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	24	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)					215				0.203704	19.792854	24.197588	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113295303	113295303	4941	11	C	A	A	A	286	22	DRD2	2	2
MICAL2	9645	broad.mit.edu	37	11	12225804	12225804	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:12225804T>C	uc001mjz.2	+	c.272T>C	c.(271-273)ATA>ACA	p.I91T	MICAL2_uc010rch.1_Missense_Mutation_p.I91T|MICAL2_uc001mjy.2_Missense_Mutation_p.I91T|MICAL2_uc001mka.2_Missense_Mutation_p.I91T|MICAL2_uc010rci.1_Missense_Mutation_p.I91T|MICAL2_uc001mkb.2_Missense_Mutation_p.I91T|MICAL2_uc001mkc.2_Missense_Mutation_p.I91T	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	91	FAD (Potential).				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0				Epithelial(150;0.00552)										0.166667	14.40156	18.823533	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12225804	12225804	9960	11	T	C	C	C	637	49	MICAL2	4	4
OR8B2	26595	broad.mit.edu	37	11	124252675	124252675	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124252675A>T	uc010sai.1	-	c.565T>A	c.(565-567)TGC>AGC	p.C189S		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.130435	13.727055	22.893735	9	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124252675	124252675	11638	11	A	T	T	T	91	7	OR8B2	3	3
SPON1	10418	broad.mit.edu	37	11	14157044	14157044	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:14157044C>T	uc001mle.2	+	c.755C>T	c.(754-756)GCC>GTC	p.A252V		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	252	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)										0.260417	57.852789	62.830787	25	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14157044	14157044	15595	11	C	T	T	T	338	26	SPON1	2	2
PLEKHA7	144100	broad.mit.edu	37	11	16848117	16848117	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16848117C>A	uc010rcu.1	-	c.893G>T	c.(892-894)CGG>CTG	p.R298L	PLEKHA7_uc001mmo.2_Missense_Mutation_p.R298L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R6L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	298					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.4	22.449489	22.606784	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16848117	16848117	12487	11	C	A	A	A	299	23	PLEKHA7	1	1
SLC22A18	5002	broad.mit.edu	37	11	2943331	2943331	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:2943331G>C	uc001lwx.2	+	c.865_splice	c.e9-1	p.V289_splice	SLC22A18_uc001lwy.2_Splice_Site_SNP_p.V289_splice|SLC22A18_uc001lwz.2_Splice_Site_SNP_p.V191_splice	NM_183233	NP_899056			tumor suppressing subtransferable candidate 5						excretion|organic cation transport|response to antibiotic	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	symporter activity|tetracycline:hydrogen antiporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)										0.162162	11.334523	15.344199	6	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2943331	2943331	14945	11	G	C	C	C	455	35	SLC22A18	5	3
ELP4	26610	broad.mit.edu	37	11	31648715	31648715	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31648715G>C	uc001mtb.2	+	c.712G>C	c.(712-714)GAA>CAA	p.E238Q	ELP4_uc001mta.1_Non-coding_Transcript|ELP4_uc001mtc.2_Missense_Mutation_p.E238Q|ELP4_uc010rdz.1_Missense_Mutation_p.E239Q	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	238					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			ovary(1)	1	Lung SC(675;0.225)													0.228571	41.066968	45.794835	16	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31648715	31648715	5274	11	G	C	C	C	533	41	ELP4	3	3
QSER1	79832	broad.mit.edu	37	11	32954592	32954592	+	Silent	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32954592A>G	uc001mty.2	+	c.1401A>G	c.(1399-1401)ACA>ACG	p.T467T	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	467	Ser-rich.									ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.242424	36.667932	40.66106	16	50	KEEP	---	---	---	---	capture		Silent	SNP	32954592	32954592	13340	11	A	G	G	G	93	8	QSER1	4	4
RAG2	5897	broad.mit.edu	37	11	36614854	36614854	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36614854T>A	uc001mwv.3	-	c.865A>T	c.(865-867)ATC>TTC	p.I289F	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	289					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_lung(20;0.226)	all_hematologic(20;0.00756)												0.156627	23.544526	32.87238	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36614854	36614854	13465	11	T	A	A	A	663	51	RAG2	3	3
NUP98	4928	broad.mit.edu	37	11	3707286	3707286	+	Silent	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3707286T>C	uc001lyh.2	-	c.4593A>G	c.(4591-4593)CTA>CTG	p.L1531L	NUP98_uc001lyi.2_Intron|NUP98_uc001lyg.2_Silent_p.L496L	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1548					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)						613				0.190476	18.484826	22.239041	8	34	KEEP	---	---	---	---	capture		Silent	SNP	3707286	3707286	11178	11	T	C	C	C	730	57	NUP98	4	4
ACCS	84680	broad.mit.edu	37	11	44097139	44097139	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44097139G>A	uc009yks.1	+	c.553G>A	c.(553-555)GGG>AGG	p.G185R	EXT2_uc010rfo.1_Silent_p.P17P|ACCS_uc010rfm.1_Missense_Mutation_p.G112R|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.G185R	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	185							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						Esophageal Squamous(158;148 1889 8077 23160 41213)								0.368421	59.054407	59.923787	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44097139	44097139	134	11	G	A	A	A	507	39	ACCS	1	1
NUP160	23279	broad.mit.edu	37	11	47843375	47843375	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47843375T>A	uc001ngm.2	-	c.1180_splice	c.e9-1	p.E394_splice	NUP160_uc009ylw.2_Splice_Site_SNP	NM_015231	NP_056046			nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)	6														0.1875	25.363802	31.215113	12	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47843375	47843375	11162	11	T	A	A	A	689	53	NUP160	5	3
OR52J3	119679	broad.mit.edu	37	11	5068347	5068347	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5068347G>A	uc010qyv.1	+	c.592G>A	c.(592-594)GGT>AGT	p.G198S		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	198	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.21118	68.827816	81.295163	34	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5068347	5068347	11532	11	G	A	A	A	611	47	OR52J3	2	2
OR10Q1	219960	broad.mit.edu	37	11	57995391	57995391	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57995391G>T	uc010rkd.1	-	c.957C>A	c.(955-957)AAC>AAA	p.N319K		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	319	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.187845	145.423249	178.45996	68	294	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57995391	57995391	11322	11	G	T	T	T	464	36	OR10Q1	2	2
OR10Q1	219960	broad.mit.edu	37	11	57996246	57996246	+	Silent	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57996246G>C	uc010rkd.1	-	c.102C>G	c.(100-102)CTC>CTG	p.L34L		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.153509	67.096854	93.288503	35	193	KEEP	---	---	---	---	capture		Silent	SNP	57996246	57996246	11322	11	G	C	C	C	418	33	OR10Q1	3	3
GIF	2694	broad.mit.edu	37	11	59610572	59610572	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59610572G>T	uc001noi.2	-	c.299C>A	c.(298-300)ACC>AAC	p.T100N	GIF_uc010rkz.1_Missense_Mutation_p.T100N	NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	100					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						NSCLC(53;1139 1245 16872 38474 42853)								0.216216	19.782439	22.529377	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59610572	59610572	6644	11	G	T	T	T	572	44	GIF	2	2
DCHS1	8642	broad.mit.edu	37	11	6647528	6647528	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6647528C>A	uc001mem.1	-	c.6448G>T	c.(6448-6450)GGA>TGA	p.G2150*		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2150	Cadherin 20.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.333333	17.406479	17.928893	7	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6647528	6647528	4458	11	C	A	A	A	312	24	DCHS1	5	2
OR10A4	283297	broad.mit.edu	37	11	6898812	6898812	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6898812T>C	uc010rat.1	+	c.934T>C	c.(934-936)TCT>CCT	p.S312P		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.044118	-17.960371	12.292576	6	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6898812	6898812	11298	11	T	C	C	C	702	54	OR10A4	4	4
ARHGEF17	9828	broad.mit.edu	37	11	73070953	73070953	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73070953G>T	uc001otu.2	+	c.4162G>T	c.(4162-4164)GGC>TGC	p.G1388C		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1388					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														0.52381	32.123467	32.133723	11	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73070953	73070953	914	11	G	T	T	T	559	43	ARHGEF17	2	2
DLG2	1740	broad.mit.edu	37	11	83585468	83585468	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:83585468C>A	uc001pak.2	-	c.1560G>T	c.(1558-1560)CTG>CTT	p.L520L	DLG2_uc001pai.2_Silent_p.L312L|DLG2_uc010rsy.1_Silent_p.L382L|DLG2_uc001paj.2_Silent_p.L415L|DLG2_uc010rsz.1_Silent_p.L415L|DLG2_uc010rta.1_Silent_p.L415L|DLG2_uc010rtb.1_Silent_p.L382L|DLG2_uc001pal.1_Silent_p.L415L|DLG2_uc001pam.1_Silent_p.L454L	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	415						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.128205	6.656382	11.903016	5	34	KEEP	---	---	---	---	capture		Silent	SNP	83585468	83585468	4735	11	C	A	A	A	262	21	DLG2	2	2
FAT3	120114	broad.mit.edu	37	11	92085981	92085981	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92085981G>T	uc001pdj.3	+	c.703G>T	c.(703-705)GAC>TAC	p.D235Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	235	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.20438	52.589475	63.747625	28	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92085981	92085981	5927	11	G	T	T	T	533	41	FAT3	2	2
FAT3	120114	broad.mit.edu	37	11	92570949	92570949	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92570949G>T	uc001pdj.3	+	c.10345G>T	c.(10345-10347)GCC>TCC	p.A3449S	FAT3_uc001pdi.3_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3449	Cadherin 32.|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)			0.225	39.203304	44.773356	18	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92570949	92570949	5927	11	G	T	T	T	598	46	FAT3	2	2
UTP20	27340	broad.mit.edu	37	12	101679536	101679536	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101679536A>G	uc001tia.1	+	c.203A>G	c.(202-204)TAC>TGC	p.Y68C	UTP20_uc009ztz.1_Missense_Mutation_p.Y68C	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	68					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.227273	39.194772	43.697	15	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101679536	101679536	17664	12	A	G	G	G	182	14	UTP20	4	4
CKAP4	10970	broad.mit.edu	37	12	106633563	106633563	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106633563G>A	uc001tlk.2	-	c.1048C>T	c.(1048-1050)CAG>TAG	p.Q350*		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	350	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0														0.285714	17.784701	18.94157	8	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	106633563	106633563	3580	12	G	A	A	A	598	46	CKAP4	5	2
RIMBP2	23504	broad.mit.edu	37	12	130926887	130926887	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130926887G>T	uc001uil.2	-	c.959C>A	c.(958-960)CCG>CAG	p.P320Q	RIMBP2_uc001uim.2_Missense_Mutation_p.P228Q|RIMBP2_uc001uin.1_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	320	Fibronectin type-III 1.					cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)										0.205128	18.136946	21.239327	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130926887	130926887	13838	12	G	T	T	T	507	39	RIMBP2	1	1
ZNF268	10795	broad.mit.edu	37	12	133758615	133758615	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133758615G>T	uc010tcf.1	+	c.32G>T	c.(31-33)TGG>TTG	p.W11L	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_5'UTR|ZNF268_uc010tbx.1_5'UTR|ZNF268_uc010tby.1_5'UTR|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_5'UTR|ZNF268_uc010tcb.1_5'UTR|ZNF268_uc010tcc.1_5'UTR|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_5'UTR|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.W11L	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	11					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)										0.294118	13.26758	13.912917	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133758615	133758615	18399	12	G	T	T	T	611	47	ZNF268	2	2
OVCH1	341350	broad.mit.edu	37	12	29604479	29604479	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29604479C>A	uc001rix.1	-	c.2554G>T	c.(2554-2556)GAA>TAA	p.E852*		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	852	CUB 3.				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)													0.2	26.436149	31.879923	13	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29604479	29604479	11736	12	C	A	A	A	416	32	OVCH1	5	2
CNTN1	1272	broad.mit.edu	37	12	41419071	41419071	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41419071C>A	uc001rmm.1	+	c.2643C>A	c.(2641-2643)GTC>GTA	p.V881V	CNTN1_uc001rmn.1_Silent_p.V870V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	881	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.181319	133.661775	168.303124	66	298	KEEP	---	---	---	---	capture		Silent	SNP	41419071	41419071	3778	12	C	A	A	A	392	31	CNTN1	1	1
PDZRN4	29951	broad.mit.edu	37	12	41967025	41967025	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41967025A>T	uc010skn.1	+	c.1847A>T	c.(1846-1848)AAG>ATG	p.K616M	PDZRN4_uc001rmq.3_Missense_Mutation_p.K557M|PDZRN4_uc009zjz.2_Missense_Mutation_p.K555M|PDZRN4_uc001rmr.2_Missense_Mutation_p.K442M	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	815							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	8	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)								467				0.196154	210.051427	254.81779	102	418	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41967025	41967025	12131	12	A	T	T	T	39	3	PDZRN4	3	3
ADAMTS20	80070	broad.mit.edu	37	12	43777382	43777382	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43777382C>A	uc010skx.1	-	c.4776G>T	c.(4774-4776)GTG>GTT	p.V1592V		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1592	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.136364	17.638656	28.908997	12	76	KEEP	---	---	---	---	capture		Silent	SNP	43777382	43777382	267	12	C	A	A	A	262	21	ADAMTS20	2	2
USP15	9958	broad.mit.edu	37	12	62784975	62784975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:62784975C>T	uc001src.1	+	c.1999C>T	c.(1999-2001)CAG>TAG	p.Q667*	USP15_uc001srb.1_Nonsense_Mutation_p.Q638*	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	667					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		Melanoma(181;615 2041 39364 49691 50001)								0.181818	30.902555	38.226527	14	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62784975	62784975	17608	12	C	T	T	T	273	21	USP15	5	2
OSBPL8	114882	broad.mit.edu	37	12	76780440	76780440	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76780440C>A	uc001sye.1	-	c.1353G>T	c.(1351-1353)GAG>GAT	p.E451D	OSBPL8_uc001syf.1_Missense_Mutation_p.E409D|OSBPL8_uc001syg.1_Missense_Mutation_p.E409D|OSBPL8_uc001syh.1_Missense_Mutation_p.E426D	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	451					lipid transport		lipid binding			ovary(1)	1														0.207547	23.1978	27.396551	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76780440	76780440	11694	12	C	A	A	A	285	22	OSBPL8	2	2
C12orf26	84190	broad.mit.edu	37	12	82824741	82824741	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:82824741G>T	uc001szq.2	+	c.1349G>T	c.(1348-1350)CGT>CTT	p.R450L		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	450											0														0.158273	43.973329	59.435857	22	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82824741	82824741	1723	12	G	T	T	T	520	40	C12orf26	1	1
USP44	84101	broad.mit.edu	37	12	95914952	95914952	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:95914952T>G	uc001teg.2	-	c.1760A>C	c.(1759-1761)AAG>ACG	p.K587T	USP44_uc001teh.2_Missense_Mutation_p.K587T|USP44_uc009zte.2_Missense_Mutation_p.K584T	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	587					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1														0.148515	24.66682	36.636362	15	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95914952	95914952	17639	12	T	G	G	G	728	56	USP44	4	4
ERCC5	2073	broad.mit.edu	37	13	103527867	103527867	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103527867G>T	uc001vpw.2	+	c.3175G>T	c.(3175-3177)GGC>TGC	p.G1059C		NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	1059	Nuclear localization signal (Potential).				negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|central_nervous_system(1)	5	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)									463				0.142292	53.551133	84.747307	36	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103527867	103527867	5409	13	G	T	T	T	455	35	ERCC5	2	2
SLC10A2	6555	broad.mit.edu	37	13	103718580	103718580	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103718580C>A	uc001vpy.3	-	c.20G>T	c.(19-21)TGT>TTT	p.C7F		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	7	Extracellular (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)	3	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)													0.203947	69.736004	82.104696	31	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103718580	103718580	14869	13	C	A	A	A	221	17	SLC10A2	2	2
MTUS2	23281	broad.mit.edu	37	13	29599481	29599481	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29599481C>A	uc001usl.3	+	c.676C>A	c.(676-678)CCA>ACA	p.P226T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	216						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.180556	23.964118	30.848312	13	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29599481	29599481	10359	13	C	A	A	A	338	26	MTUS2	2	2
LHFP	10186	broad.mit.edu	37	13	40174995	40174995	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:40174995A>T	uc001uxf.2	-	c.359T>A	c.(358-360)GTG>GAG	p.V120E		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	120						integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)						71				0.2	30.341584	35.779716	13	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40174995	40174995	9089	13	A	T	T	T	78	6	LHFP	3	3
PCDH17	27253	broad.mit.edu	37	13	58299215	58299215	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58299215C>A	uc001vhq.1	+	c.3267C>A	c.(3265-3267)CCC>CCA	p.P1089P	PCDH17_uc010aec.1_Silent_p.P1088P|PCDH17_uc001vhr.1_Silent_p.P178P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1089	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.248408	96.041939	105.089307	39	118	KEEP	---	---	---	---	capture		Silent	SNP	58299215	58299215	11932	13	C	A	A	A	301	24	PCDH17	2	2
DOCK9	23348	broad.mit.edu	37	13	99535354	99535354	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99535354C>A	uc001vnt.2	-	c.2504G>T	c.(2503-2505)TGT>TTT	p.C835F	DOCK9_uc001vnw.2_Missense_Mutation_p.C834F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.C835F|DOCK9_uc010tis.1_Missense_Mutation_p.C834F|DOCK9_uc010tit.1_Missense_Mutation_p.C835F|DOCK9_uc010afu.1_Missense_Mutation_p.C681F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	835	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.229167	26.099109	29.328647	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99535354	99535354	4878	13	C	A	A	A	221	17	DOCK9	2	2
DIO3	1735	broad.mit.edu	37	14	102028007	102028007	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102028007G>T	uc010txq.1	+	c.96G>T	c.(94-96)ATG>ATT	p.M32I	DIO3OS_uc001ykd.1_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	32	Helical; Signal-anchor for type II membrane protein; (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|oxidation-reduction process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)	2		all_neural(303;0.185)												0.444444	9.681454	9.707773	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102028007	102028007	4705	14	G	T	T	T	598	46	DIO3	2	2
AHNAK2	113146	broad.mit.edu	37	14	105409860	105409860	+	Silent	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105409860C>T	uc010axc.1	-	c.11928G>A	c.(11926-11928)CCG>CCA	p.P3976P	AHNAK2_uc001ypx.2_Silent_p.P3876P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3976						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.060241	-6.287951	10.486458	5	78	KEEP	---	---	---	---	capture		Silent	SNP	105409860	105409860	418	14	C	T	T	T	236	19	AHNAK2	1	1
TMEM55B	90809	broad.mit.edu	37	14	20927364	20927364	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20927364C>A	uc001vxk.2	-	c.711_splice	c.e6+1	p.A237_splice	TMEM55B_uc001vxl.2_Splice_Site_SNP_p.A230_splice	NM_001100814	NP_001094284			transmembrane protein 55B isoform 1							integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)										0.279412	50.908711	53.876414	19	49	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	20927364	20927364	16721	14	C	A	A	A	247	19	TMEM55B	5	1
CHD8	57680	broad.mit.edu	37	14	21869215	21869215	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21869215C>A	uc001was.1	-	c.3352G>T	c.(3352-3354)GAC>TAC	p.D1118Y	CHD8_uc001war.1_Missense_Mutation_p.D1014Y|CHD8_uc001wav.1_Missense_Mutation_p.D560Y	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1397					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)						886				0.145455	12.78165	19.417097	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21869215	21869215	3465	14	C	A	A	A	377	29	CHD8	2	2
SLC8A3	6547	broad.mit.edu	37	14	70633732	70633732	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70633732C>A	uc001xly.2	-	c.1408G>T	c.(1408-1410)GAT>TAT	p.D470Y	SLC8A3_uc001xlw.2_Missense_Mutation_p.D470Y|SLC8A3_uc001xlx.2_Missense_Mutation_p.D470Y|SLC8A3_uc001xlz.2_Missense_Mutation_p.D470Y|SLC8A3_uc010ara.2_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	470	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			ovary(2)|breast(2)	4				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)										0.20597	147.306189	174.157939	69	266	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70633732	70633732	15205	14	C	A	A	A	377	29	SLC8A3	2	2
FLRT2	23768	broad.mit.edu	37	14	86089394	86089394	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:86089394C>A	uc001xvr.2	+	c.1536C>A	c.(1534-1536)GCC>GCA	p.A512A	FLRT2_uc010atd.2_Silent_p.A512A	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	512	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(234;0.0319)										0.223684	39.137206	44.470669	17	59	KEEP	---	---	---	---	capture		Silent	SNP	86089394	86089394	6181	14	C	A	A	A	262	21	FLRT2	2	2
SERPINA5	5104	broad.mit.edu	37	14	95058481	95058481	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95058481C>A	uc001ydm.2	+	c.1126C>A	c.(1126-1128)CGC>AGC	p.R376S	SERPINA3_uc001ydo.3_Intron	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	376					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)									0.200935	98.775747	116.441461	43	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95058481	95058481	14580	14	C	A	A	A	299	23	SERPINA5	1	1
BDKRB2	624	broad.mit.edu	37	14	96707170	96707170	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96707170C>T	uc010avm.1	+	c.505C>T	c.(505-507)CGC>TGC	p.R169C	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.R142C|BDKRB2_uc001yfg.2_Missense_Mutation_p.R169C	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	169	Cytoplasmic (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|inflammatory response|regulation of vascular permeability|regulation of vasoconstriction|smooth muscle contraction|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|kidney(1)	4		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)										0.282609	64.896841	68.75222	26	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96707170	96707170	1415	14	C	T	T	T	351	27	BDKRB2	1	1
CYFIP1	23191	broad.mit.edu	37	15	22929744	22929744	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22929744G>T	uc001yus.2	+	c.418G>T	c.(418-420)GTG>TTG	p.V140L	CYFIP1_uc001yut.2_Missense_Mutation_p.V140L|CYFIP1_uc010aya.1_Missense_Mutation_p.V168L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	140					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)	8		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)						1870				0.166667	8.485341	11.624191	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22929744	22929744	4302	15	G	T	T	T	468	36	CYFIP1	2	2
MKRN3	7681	broad.mit.edu	37	15	23811062	23811062	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23811062G>T	uc001ywh.3	+	c.133G>T	c.(133-135)GAT>TAT	p.D45Y	MKRN3_uc001ywi.2_Missense_Mutation_p.D45Y|MKRN3_uc010ayi.1_Missense_Mutation_p.D45Y	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	45						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)						79				0.3	14.039207	14.755934	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23811062	23811062	9998	15	G	T	T	T	429	33	MKRN3	2	2
HERC2	8924	broad.mit.edu	37	15	28443559	28443559	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28443559C>A	uc001zbj.2	-	c.7976G>T	c.(7975-7977)GGA>GTA	p.G2659V	HERC2_uc001zbk.1_Missense_Mutation_p.G194V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2659					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.21519	34.629168	40.548052	17	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28443559	28443559	7341	15	C	A	A	A	390	30	HERC2	2	2
VPS39	23339	broad.mit.edu	37	15	42454305	42454305	+	Silent	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42454305C>T	uc001zpd.2	-	c.2418G>A	c.(2416-2418)AAG>AAA	p.K806K	VPS39_uc001zpc.2_Silent_p.K795K|VPS39_uc001zpb.2_Silent_p.K141K	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	806					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)	2		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)										0.183673	17.64406	22.249946	9	40	KEEP	---	---	---	---	capture		Silent	SNP	42454305	42454305	17776	15	C	T	T	T	311	24	VPS39	2	2
EPB42	2038	broad.mit.edu	37	15	43500962	43500962	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43500962G>C	uc001zrb.3	-	c.934C>G	c.(934-936)CTG>GTG	p.L312V	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Missense_Mutation_p.L127V|EPB42_uc001zra.3_Missense_Mutation_p.L282V|EPB42_uc010udm.1_Missense_Mutation_p.L204V	NM_000119	NP_000110	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 1	282					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)										0.151515	6.551851	10.393332	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43500962	43500962	5351	15	G	C	C	C	451	35	EPB42	3	3
NEO1	4756	broad.mit.edu	37	15	73575342	73575342	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:73575342G>T	uc002avm.3	+	c.3300G>T	c.(3298-3300)CTG>CTT	p.L1100L	NEO1_uc010ukx.1_Silent_p.L1089L|NEO1_uc010uky.1_Silent_p.L1100L|NEO1_uc010ukz.1_Silent_p.L513L|NEO1_uc002avn.3_Silent_p.L738L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1100	Extracellular (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1														0.240223	209.278507	231.324366	86	272	KEEP	---	---	---	---	capture		Silent	SNP	73575342	73575342	10735	15	G	T	T	T	600	47	NEO1	2	2
ZNF592	9640	broad.mit.edu	37	15	85326375	85326375	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85326375G>T	uc002bld.2	+	c.469G>T	c.(469-471)GGA>TGA	p.G157*	ZNF592_uc010upb.1_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	157					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4			BRCA - Breast invasive adenocarcinoma(143;0.0587)											0.172897	74.523876	96.089549	37	177	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	85326375	85326375	18617	15	G	T	T	T	507	39	ZNF592	5	1
POLG	5428	broad.mit.edu	37	15	89868839	89868839	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89868839C>A	uc002bns.3	-	c.1791G>T	c.(1789-1791)CGG>CGT	p.R597R	POLG_uc002bnr.3_Silent_p.R597R	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	597					base-excision repair, gap-filling|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			Colon(73;648 1203 11348 18386 27782)								0.173913	7.585827	9.89444	4	19	KEEP	---	---	---	---	capture		Silent	SNP	89868839	89868839	12628	15	C	A	A	A	275	22	POLG	2	2
POLR3E	55718	broad.mit.edu	37	16	22330235	22330235	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22330235G>T	uc002dkk.2	+	c.954G>T	c.(952-954)GCG>GCT	p.A318A	POLR3E_uc002dkj.1_Silent_p.A318A|POLR3E_uc002dkm.2_Silent_p.A282A|POLR3E_uc010vbr.1_Silent_p.A318A|POLR3E_uc002dkl.2_Silent_p.A318A|POLR3E_uc010vbs.1_Silent_p.A282A|POLR3E_uc010vbt.1_Silent_p.A262A	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	318					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)										0.25	32.8325	36.008245	14	42	KEEP	---	---	---	---	capture		Silent	SNP	22330235	22330235	12660	16	G	T	T	T	470	37	POLR3E	1	1
MYLK3	91807	broad.mit.edu	37	16	46766215	46766215	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46766215G>A	uc002eei.3	-	c.1367C>T	c.(1366-1368)CCT>CTT	p.P456L	MYLK3_uc010vge.1_Missense_Mutation_p.P115L|MYLK3_uc002eej.1_Missense_Mutation_p.P115L	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	456					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|protein phosphorylation|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)								207				0.357143	13.570488	13.822376	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46766215	46766215	10453	16	G	A	A	A	455	35	MYLK3	2	2
LRRC50	123872	broad.mit.edu	37	16	84203521	84203521	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84203521G>T	uc002fhl.3	+	c.1087G>T	c.(1087-1089)GAG>TAG	p.E363*	LRRC50_uc010vnw.1_Nonsense_Mutation_p.E127*	NM_178452	NP_848547	Q8NEP3	LRC50_HUMAN	leucine rich repeat containing 50	363					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			ovary(4)|pancreas(1)	5														0.307692	10.294675	10.723531	4	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	84203521	84203521	9384	16	G	T	T	T	533	41	LRRC50	5	2
DNAH9	1770	broad.mit.edu	37	17	11840709	11840709	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11840709A>G	uc002gne.2	+	c.12530A>G	c.(12529-12531)TAT>TGT	p.Y4177C	DNAH9_uc010coo.2_Missense_Mutation_p.Y3395C|DNAH9_uc002gnf.2_Missense_Mutation_p.Y489C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4177					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.170213	17.473788	22.306608	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11840709	11840709	4791	17	A	G	G	G	208	16	DNAH9	4	4
KSR1	8844	broad.mit.edu	37	17	25919562	25919562	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:25919562G>T	uc010crg.2	+	c.798G>T	c.(796-798)AGG>AGT	p.R266S	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.2_Missense_Mutation_p.R67S	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	401					protein phosphorylation|Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		Esophageal Squamous(88;1120 1336 6324 10502 16832)				1488				0.213115	25.54062	30.181878	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25919562	25919562	8904	17	G	T	T	T	529	41	KSR1	2	2
VTN	7448	broad.mit.edu	37	17	26697216	26697216	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26697216G>T	uc002hbc.2	-	c.9C>A	c.(7-9)CCC>CCA	p.P3P	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	3					cell adhesion mediated by integrin|immune response|negative regulation of blood coagulation|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of wound healing|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)									0.238095	11.770286	13.082193	5	16	KEEP	---	---	---	---	capture		Silent	SNP	26697216	26697216	17806	17	G	T	T	T	548	43	VTN	2	2
NLE1	54475	broad.mit.edu	37	17	33463440	33463440	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33463440C>T	uc002hiy.1	-	c.905G>A	c.(904-906)CGC>CAC	p.R302H	NLE1_uc010ctn.1_Missense_Mutation_p.R10H|NLE1_uc002hiz.1_Missense_Mutation_p.R10H	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	302						nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)												0.193103	57.537694	70.275114	28	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33463440	33463440	10863	17	C	T	T	T	351	27	NLE1	1	1
KRTAP9-8	83901	broad.mit.edu	37	17	39394381	39394381	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39394381C>A	uc002hwh.3	+	c.78C>A	c.(76-78)ACC>ACA	p.T26T	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	26	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)											0.456522	61.097315	61.168344	21	25	KEEP	---	---	---	---	capture		Silent	SNP	39394381	39394381	8899	17	C	A	A	A	301	24	KRTAP9-8	2	2
EFTUD2	9343	broad.mit.edu	37	17	42931994	42931994	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42931994C>T	uc002ihn.2	-	c.2189G>A	c.(2188-2190)CGT>CAT	p.R730H	EFTUD2_uc010wje.1_Missense_Mutation_p.R695H|EFTUD2_uc010wjf.1_Missense_Mutation_p.R720H	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	730					nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				Ovarian(10;65 485 10258 29980 30707)								0.142857	14.150397	22.717096	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42931994	42931994	5150	17	C	T	T	T	247	19	EFTUD2	1	1
SEPT4	5414	broad.mit.edu	37	17	56598179	56598180	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56598179_56598180GG>TT	uc010wnx.1	-	c.1346_1347CC>AA	c.(1345-1347)ACC>AAA	p.T449K	MTMR4_uc002iwj.2_5'Flank|SEPT4_uc002iwk.1_Missense_Mutation_p.T287K|SEPT4_uc010wnw.1_Missense_Mutation_p.T287K|SEPT4_uc002iwl.1_Missense_Mutation_p.T287K|SEPT4_uc002iwm.1_Missense_Mutation_p.T434K|SEPT4_uc002iwn.1_Missense_Mutation_p.T335K|SEPT4_uc002iwo.1_Missense_Mutation_p.T415K|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wny.1_Missense_Mutation_p.T426K|SEPT4_uc010dcy.1_3'UTR	NM_080416	NP_536341	O43236	SEPT4_HUMAN	septin 4 isoform 3	434					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.201754	51.681047	61.090509	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	56598179	56598180	14552	17	GG	TT	TT	TT	496	39	SEPT4	1	1
TACO1	51204	broad.mit.edu	37	17	61683704	61683704	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61683704G>A	uc002jbd.2	+	c.419G>A	c.(418-420)GGT>GAT	p.G140D		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially	140					regulation of translation	mitochondrion					0														0.243902	71.350215	78.661582	30	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61683704	61683704	16025	17	G	A	A	A	572	44	TACO1	2	2
CCDC46	201134	broad.mit.edu	37	17	63746794	63746794	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:63746794C>A	uc002jfl.2	-	c.2443G>T	c.(2443-2445)GCC>TCC	p.A815S	CCDC46_uc010deo.2_Intron|CCDC46_uc002jfm.2_Missense_Mutation_p.A815S|CCDC46_uc010dep.2_Missense_Mutation_p.A773S|CCDC46_uc002jfk.2_Missense_Mutation_p.A71S	NM_145036	NP_659473	Q8N8E3	CCD46_HUMAN	coiled-coil domain containing 46 isoform a	815	Potential.										0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)											0.203125	27.998851	33.192917	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63746794	63746794	2940	17	C	A	A	A	325	25	CCDC46	2	2
NOL11	25926	broad.mit.edu	37	17	65717512	65717512	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65717512A>T	uc002jgd.1	+	c.331A>T	c.(331-333)AGG>TGG	p.R111W	NOL11_uc010wql.1_5'UTR|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	111						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)											0.215385	32.115888	36.974878	14	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65717512	65717512	10924	17	A	T	T	T	192	15	NOL11	3	3
SDK2	54549	broad.mit.edu	37	17	71334924	71334924	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71334924C>A	uc010dfm.2	-	c.6321G>T	c.(6319-6321)TCG>TCT	p.S2107S	SDK2_uc002jjt.3_Silent_p.S1247S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	2107	Cytoplasmic (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.222222	19.079972	21.565768	8	28	KEEP	---	---	---	---	capture		Silent	SNP	71334924	71334924	14455	17	C	A	A	A	288	23	SDK2	1	1
DSG3	1830	broad.mit.edu	37	18	29055744	29055744	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29055744C>A	uc002kws.2	+	c.2521C>A	c.(2521-2523)CTG>ATG	p.L841M	DSG3_uc002kwt.2_Missense_Mutation_p.L123M	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	841	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.205128	31.448384	37.75152	16	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29055744	29055744	4962	18	C	A	A	A	311	24	DSG3	2	2
ASXL3	80816	broad.mit.edu	37	18	31324235	31324235	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31324235G>T	uc010dmg.1	+	c.4423G>T	c.(4423-4425)GTT>TTT	p.V1475F	ASXL3_uc002kxq.2_Missense_Mutation_p.V1182F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3												OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.314815	49.260834	50.905479	17	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31324235	31324235	1087	18	G	T	T	T	520	40	ASXL3	1	1
ZBTB7C	201501	broad.mit.edu	37	18	45566337	45566337	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:45566337C>A	uc010dnv.2	-	c.1208G>T	c.(1207-1209)CGG>CTG	p.R403L	ZBTB7C_uc002ldb.2_Missense_Mutation_p.R381L|ZBTB7C_uc010dnu.2_Missense_Mutation_p.R390L|ZBTB7C_uc010dnw.2_Missense_Mutation_p.R381L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.R381L|ZBTB7C_uc010dny.1_Missense_Mutation_p.R381L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.R403L|ZBTB7C_uc010dob.1_Missense_Mutation_p.R381L|ZBTB7C_uc010doc.1_Missense_Mutation_p.R390L|ZBTB7C_uc010dod.1_Missense_Mutation_p.R403L|ZBTB7C_uc010doe.1_Missense_Mutation_p.R381L|ZBTB7C_uc010dof.1_Missense_Mutation_p.R381L|ZBTB7C_uc010dog.1_Missense_Mutation_p.R381L|ZBTB7C_uc010doh.1_Missense_Mutation_p.R390L|ZBTB7C_uc010doi.1_Missense_Mutation_p.R381L|ZBTB7C_uc010doj.1_Missense_Mutation_p.R390L|ZBTB7C_uc010dok.1_Missense_Mutation_p.R430L|ZBTB7C_uc010dol.1_Missense_Mutation_p.R390L|ZBTB7C_uc010doa.1_Missense_Mutation_p.R403L|ZBTB7C_uc010don.1_Missense_Mutation_p.R389L|ZBTB7C_uc010doo.1_Missense_Mutation_p.R381L|ZBTB7C_uc010dop.1_Missense_Mutation_p.R381L|ZBTB7C_uc010doq.1_Missense_Mutation_p.R390L|ZBTB7C_uc010dor.1_Missense_Mutation_p.R403L|ZBTB7C_uc010dos.1_Missense_Mutation_p.R381L|ZBTB7C_uc010dot.1_Missense_Mutation_p.R381L|ZBTB7C_uc010dou.1_Missense_Mutation_p.R390L|ZBTB7C_uc010dom.1_Missense_Mutation_p.R390L|ZBTB7C_uc002lda.2_Missense_Mutation_p.R381L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	381	C2H2-type 1.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1														0.133333	4.375046	8.309993	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45566337	45566337	18142	18	C	A	A	A	299	23	ZBTB7C	1	1
MEX3C	51320	broad.mit.edu	37	18	48703218	48703218	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48703218C>T	uc002lfc.3	-	c.1483G>A	c.(1483-1485)GAC>AAC	p.D495N		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	ring finger and KH domain containing 2	495						cytoplasm|nucleus	RNA binding|zinc ion binding			ovary(1)|skin(1)	2		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)										0.27381	109.874264	117.625482	46	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48703218	48703218	9901	18	C	T	T	T	377	29	MEX3C	2	2
FECH	2235	broad.mit.edu	37	18	55221585	55221585	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55221585C>A	uc002lgp.3	-	c.1002G>T	c.(1000-1002)AAG>AAT	p.K334N	FECH_uc002lgq.3_Missense_Mutation_p.K328N|FECH_uc002lgr.3_Missense_Mutation_p.K186N	NM_001012515	NP_001012533	P22830	HEMH_HUMAN	ferrochelatase isoform a precursor	328					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)												0.168317	28.555641	39.049483	17	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55221585	55221585	6045	18	C	A	A	A	415	32	FECH	2	2
SOCS6	9306	broad.mit.edu	37	18	67992072	67992072	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67992072C>A	uc002lkr.1	+	c.168C>A	c.(166-168)ATC>ATA	p.I56I	SOCS6_uc010dqq.2_Silent_p.I56I	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	56					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)	1		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				Melanoma(84;1024 1361 24382 36583 42651)								0.166667	16.98455	23.944558	11	55	KEEP	---	---	---	---	capture		Silent	SNP	67992072	67992072	15418	18	C	A	A	A	369	29	SOCS6	2	2
ADNP2	22850	broad.mit.edu	37	18	77895267	77895267	+	Silent	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77895267C>T	uc002lnw.2	+	c.1971C>T	c.(1969-1971)CCC>CCT	p.P657P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	657					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(3)|central_nervous_system(1)	7		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)										0.25	18.01647	19.603895	7	21	KEEP	---	---	---	---	capture		Silent	SNP	77895267	77895267	325	18	C	T	T	T	288	23	ADNP2	1	1
KEAP1	9817	broad.mit.edu	37	19	10610244	10610244	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10610244T>C	uc002moq.1	-	c.466A>G	c.(466-468)ATG>GTG	p.M156V	KEAP1_uc002mor.1_Missense_Mutation_p.M156V	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.285714	18.286917	19.442046	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10610244	10610244	8447	19	T	C	C	C	663	51	KEAP1	4	4
SMARCA4	6597	broad.mit.edu	37	19	11144075	11144075	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11144075A>T	uc010dxo.2	+	c.3656A>T	c.(3655-3657)AAG>ATG	p.K1219M	SMARCA4_uc002mqf.3_Missense_Mutation_p.K1219M|SMARCA4_uc010dxp.2_Missense_Mutation_p.K1219M|SMARCA4_uc010dxq.2_Missense_Mutation_p.K1219M|SMARCA4_uc010dxr.2_Missense_Mutation_p.K1219M|SMARCA4_uc002mqj.3_Missense_Mutation_p.K1219M|SMARCA4_uc010dxs.2_Missense_Mutation_p.K1219M|SMARCA4_uc010dxt.1_Missense_Mutation_p.K439M|SMARCA4_uc002mqh.3_Missense_Mutation_p.K342M|SMARCA4_uc002mqi.1_Missense_Mutation_p.K422M	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1219	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity			lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.290323	23.461926	24.683514	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11144075	11144075	15268	19	A	T	T	T	39	3	SMARCA4	3	3
ZNF507	22847	broad.mit.edu	37	19	32845048	32845048	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:32845048A>G	uc002nte.2	+	c.1312A>G	c.(1312-1314)ATG>GTG	p.M438V	ZNF507_uc002ntc.2_Missense_Mutation_p.M438V|ZNF507_uc010xrn.1_Missense_Mutation_p.M438V|ZNF507_uc002ntd.2_Missense_Mutation_p.M438V	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	4	Esophageal squamous(110;0.162)													0.157303	26.493826	36.463433	14	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32845048	32845048	18547	19	A	G	G	G	52	4	ZNF507	4	4
ADCK4	79934	broad.mit.edu	37	19	41209671	41209671	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41209671C>A	uc002oor.2	-	c.666G>T	c.(664-666)CAG>CAT	p.Q222H	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.Q181H	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	222	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)							88				0.16	6.48379	9.236933	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41209671	41209671	291	19	C	A	A	A	311	24	ADCK4	2	2
CD177	57126	broad.mit.edu	37	19	43859868	43859868	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43859868G>T	uc002owi.2	+	c.435G>T	c.(433-435)GGG>GGT	p.G145G	CD177_uc010eis.2_Non-coding_Transcript|CD177_uc002owj.2_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	145	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane					0		Prostate(69;0.00682)												0.181818	21.398156	27.648898	12	54	KEEP	---	---	---	---	capture		Silent	SNP	43859868	43859868	3098	19	G	T	T	T	522	41	CD177	2	2
ZNF234	10780	broad.mit.edu	37	19	44652983	44652983	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44652983G>T	uc002oym.2	+	c.75G>T	c.(73-75)CTG>CTT	p.L25L	ZNF234_uc002oyl.3_Silent_p.L25L	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)												0.212435	90.101896	104.832227	41	152	KEEP	---	---	---	---	capture		Silent	SNP	44652983	44652983	18378	19	G	T	T	T	600	47	ZNF234	2	2
PRKD2	25865	broad.mit.edu	37	19	47181713	47181713	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47181713G>A	uc010xye.1	-	c.2278C>T	c.(2278-2280)CAG>TAG	p.Q760*	PRKD2_uc002pfd.2_Nonsense_Mutation_p.Q134*|PRKD2_uc010eks.2_Nonsense_Mutation_p.Q163*|PRKD2_uc010ekt.2_Nonsense_Mutation_p.Q27*|PRKD2_uc002pfe.2_Nonsense_Mutation_p.Q280*|PRKD2_uc002pff.2_Nonsense_Mutation_p.Q280*|PRKD2_uc002pfg.2_Nonsense_Mutation_p.Q603*|PRKD2_uc002pfh.2_Nonsense_Mutation_p.Q760*|PRKD2_uc002pfi.2_Nonsense_Mutation_p.Q760*|PRKD2_uc002pfj.2_Nonsense_Mutation_p.Q760*|PRKD2_uc002pfk.2_Nonsense_Mutation_p.Q603*	NM_016457	NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	760	Protein kinase.				cell death|intracellular signal transduction|positive regulation of gene-specific transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)						242				0.268293	24.193046	26.19552	11	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47181713	47181713	12962	19	G	A	A	A	611	47	PRKD2	5	2
RUVBL2	10856	broad.mit.edu	37	19	49510571	49510571	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49510571G>C	uc002plr.1	+	c.408G>C	c.(406-408)GAG>GAC	p.E136D	RUVBL2_uc002plq.1_Missense_Mutation_p.E91D|RUVBL2_uc010yab.1_Missense_Mutation_p.E136D|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.E91D|RUVBL2_uc010yac.1_Missense_Mutation_p.E91D	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	136					DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)										0.1875	6.31627	7.778931	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49510571	49510571	14233	19	G	C	C	C	425	33	RUVBL2	3	3
IL4I1	259307	broad.mit.edu	37	19	50392964	50392964	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50392964G>C	uc002pqu.1	-	c.1733C>G	c.(1732-1734)TCT>TGT	p.S578C	IL4I1_uc002pqv.1_Missense_Mutation_p.S565C|IL4I1_uc010eno.1_Missense_Mutation_p.S564C|IL4I1_uc002pqw.1_Missense_Mutation_p.S564C|IL4I1_uc002pqt.1_Missense_Mutation_p.S556C	NM_172374	NP_758962	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 2	556					oxidation-reduction process	lysosome	L-amino-acid oxidase activity			ovary(1)	1		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)										0.25	10.992409	11.901255	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50392964	50392964	7998	19	G	C	C	C	429	33	IL4I1	3	3
LILRA1	11024	broad.mit.edu	37	19	55106759	55106759	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55106759G>T	uc002qgh.1	+	c.553G>T	c.(553-555)GGC>TGC	p.G185C	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.G185C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	185	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.264368	54.594506	58.956628	23	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55106759	55106759	9110	19	G	T	T	T	559	43	LILRA1	2	2
KIR2DL1	3802	broad.mit.edu	37	19	55282330	55282330	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55282330C>A	uc010erz.1	+	c.64C>A	c.(64-66)CAT>AAT	p.H22N	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc002qhb.1_Missense_Mutation_p.H22N	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	22	Extracellular (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GBM(72;624 1217 3963 34152 38303)								0.204819	114.408466	134.530545	51	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55282330	55282330	8628	19	C	A	A	A	221	17	KIR2DL1	2	2
C19orf51	352909	broad.mit.edu	37	19	55677335	55677335	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55677335G>T	uc002qjl.1	-	c.323C>A	c.(322-324)ACA>AAA	p.T108K	C19orf51_uc002qji.1_Missense_Mutation_p.T40K|C19orf51_uc002qjj.1_Missense_Mutation_p.T87K|C19orf51_uc002qjk.1_5'UTR	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	hypothetical protein LOC352909	40											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)								OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.1	2.401889	7.197331	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55677335	55677335	1997	19	G	T	T	T	624	48	C19orf51	2	2
PTPRH	5794	broad.mit.edu	37	19	55718234	55718234	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55718234G>C	uc002qjq.2	-	c.175C>G	c.(175-177)CAG>GAG	p.Q59E	PTPRH_uc010esv.2_Missense_Mutation_p.Q59E|PTPRH_uc002qjs.2_Missense_Mutation_p.Q66E	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	59	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)	3		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)										0.220339	33.94765	38.19277	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55718234	55718234	13260	19	G	C	C	C	624	48	PTPRH	3	3
ZNF835	90485	broad.mit.edu	37	19	57175665	57175665	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57175665G>T	uc010ygo.1	-	c.968C>A	c.(967-969)ACG>AAG	p.T323K	ZNF835_uc010ygn.1_Missense_Mutation_p.T301K	NM_001005850	NP_001005850	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(3)|skin(1)	4														0.263158	13.468443	14.430954	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57175665	57175665	18785	19	G	T	T	T	520	40	ZNF835	1	1
PEG3	5178	broad.mit.edu	37	19	57333080	57333080	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57333080G>T	uc002qnu.2	-	c.608C>A	c.(607-609)ACA>AAA	p.T203K	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.T78K|ZIM2_uc002qnq.2_Missense_Mutation_p.T78K|ZIM2_uc010etp.2_Missense_Mutation_p.T78K|ZIM2_uc010ygs.1_Missense_Mutation_p.T78K|PEG3_uc002qnt.2_Missense_Mutation_p.T204K|PEG3_uc002qnv.2_Missense_Mutation_p.T203K|PEG3_uc002qnw.2_Missense_Mutation_p.T78K|PEG3_uc002qnx.2_Missense_Mutation_p.T77K|PEG3_uc010etr.2_Missense_Mutation_p.T203K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	203					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.229268	113.755446	127.508482	47	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57333080	57333080	12141	19	G	T	T	T	624	48	PEG3	2	2
ZNF776	284309	broad.mit.edu	37	19	58265121	58265121	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58265121A>G	uc002qpx.2	+	c.623A>G	c.(622-624)TAC>TGC	p.Y208C	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Y208C	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	208	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)										0.208333	50.151087	57.711394	20	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58265121	58265121	18747	19	A	G	G	G	182	14	ZNF776	4	4
MUC16	94025	broad.mit.edu	37	19	9000568	9000568	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9000568T>A	uc002mkp.2	-	c.40418_splice	c.e54-1	p.T13473_splice	MUC16_uc010dwi.2_Splice_Site_SNP|MUC16_uc010dwj.2_Splice_Site_SNP_p.T290_splice|MUC16_uc010xki.1_Splice_Site_SNP	NM_024690	NP_078966			mucin 16						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.299435	139.509337	145.870164	53	124	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	9000568	9000568	10367	19	T	A	A	A	689	53	MUC16	5	3
COL11A1	1301	broad.mit.edu	37	1	103471678	103471678	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103471678C>A	uc001dum.2	-	c.1774_splice	c.e17-1	p.G592_splice	COL11A1_uc001duk.2_Splice_Site_SNP|COL11A1_uc001dul.2_Splice_Site_SNP_p.G580_splice|COL11A1_uc001dun.2_Splice_Site_SNP_p.G541_splice|COL11A1_uc009weh.2_Splice_Site_SNP_p.G464_splice	NM_080629	NP_542196			alpha 1 type XI collagen isoform B						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.30303	53.87449	56.16046	20	46	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	103471678	103471678	3805	1	C	A	A	A	312	24	COL11A1	5	2
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115256529T>A	uc009wgu.2	-	c.182A>T	c.(181-183)CAA>CTA	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(719)|p.Q61L(144)|p.Q61P(19)|p.Q61K(19)|p.Q61H(10)|p.Q61?(4)		haematopoietic_and_lymphoid_tissue(994)|skin(911)|thyroid(325)|NS(60)|large_intestine(52)|lung(29)|upper_aerodigestive_tract(25)|soft_tissue(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2520	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)			Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	p.Q61L(KMS21BM-Tumor)|p.Q61L(SNU719-Tumor)|p.Q61R(ONS76-Tumor)|p.Q61R(HS940.T-Tumor)|p.Q61R(KMS27-Tumor)|p.Q61L(HCC1195-Tumor)|p.Q61R(NCIH2347-Tumor)|p.Q61R(TT2609C02-Tumor)|p.Q61L(OCIAML3-Tumor)|p.Q61L(MHHES1-Tumor)|p.Q61L(IPC298-Tumor)|p.Q61L(MELJUSO-Tumor)|p.Q61L(MOLP8-Tumor)|p.Q61R(KU1919-Tumor)|p.Q61R(SKMEL2-Tumor)|p.Q61L(HEPG2-Tumor)|p.Q61R(SW1271-Tumor)|p.Q61L(C3A-Tumor)	128	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			0.447368	147.812925	148.087059	51	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115256529	115256529	11045	1	T	A	A	A	819	63	NRAS	3	3
PRUNE	58497	broad.mit.edu	37	1	150997258	150997258	+	Silent	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150997258A>T	uc001ewh.1	+	c.507A>T	c.(505-507)GCA>GCT	p.A169A	PRUNE_uc001ewi.1_5'UTR|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron|PRUNE_uc001ewk.1_5'UTR	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	169						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)									OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.368421	41.74325	42.320237	14	24	KEEP	---	---	---	---	capture		Silent	SNP	150997258	150997258	13091	1	A	T	T	T	80	7	PRUNE	3	3
RPTN	126638	broad.mit.edu	37	1	152128369	152128369	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152128369G>T	uc001ezs.1	-	c.1206C>A	c.(1204-1206)CAC>CAA	p.H402Q		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	402	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0														0.376923	991.133797	1003.216092	343	567	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152128369	152128369	14144	1	G	T	T	T	464	36	RPTN	2	2
FLG	2312	broad.mit.edu	37	1	152276134	152276134	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152276134C>T	uc001ezu.1	-	c.11228G>A	c.(11227-11229)CGA>CAA	p.R3743Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3743	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.165563	94.714443	126.720725	50	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152276134	152276134	6160	1	C	T	T	T	403	31	FLG	1	1
FLG	2312	broad.mit.edu	37	1	152277156	152277156	+	Silent	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152277156C>T	uc001ezu.1	-	c.10206G>A	c.(10204-10206)CGG>CGA	p.R3402R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3402	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.386364	284.635582	287.605654	102	162	KEEP	---	---	---	---	capture		Silent	SNP	152277156	152277156	6160	1	C	T	T	T	379	30	FLG	2	2
RHBG	57127	broad.mit.edu	37	1	156347250	156347250	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156347250G>A	uc010pho.1	+	c.346G>A	c.(346-348)GGT>AGT	p.G116S	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.2_Missense_Mutation_p.G47S|RHBG_uc009wrz.2_Missense_Mutation_p.G47S|RHBG_uc001for.2_Missense_Mutation_p.G86S	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	116	Extracellular (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)													0.238806	38.967691	43.141379	16	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156347250	156347250	13799	1	G	A	A	A	507	39	RHBG	1	1
IQGAP3	128239	broad.mit.edu	37	1	156510566	156510566	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156510566C>A	uc001fpf.2	-	c.2673G>T	c.(2671-2673)CTG>CTT	p.L891L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	891					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)	5	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.444444	144.886321	145.176633	48	60	KEEP	---	---	---	---	capture		Silent	SNP	156510566	156510566	8119	1	C	A	A	A	262	21	IQGAP3	2	2
NES	10763	broad.mit.edu	37	1	156640943	156640943	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156640943G>T	uc001fpq.2	-	c.3037C>A	c.(3037-3039)CAC>AAC	p.H1013N		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1013	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.46798	278.796724	278.965739	95	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156640943	156640943	10736	1	G	T	T	T	598	46	NES	2	2
OR6K2	81448	broad.mit.edu	37	1	158670181	158670181	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158670181C>T	uc001fsu.1	-	c.262G>A	c.(262-264)GAG>AAG	p.E88K		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.352601	332.273195	338.890221	122	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158670181	158670181	11612	1	C	T	T	T	377	29	OR6K2	2	2
C1orf9	51430	broad.mit.edu	37	1	172571920	172571920	+	Silent	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:172571920C>T	uc001giq.3	+	c.3258C>T	c.(3256-3258)GGC>GGT	p.G1086G	C1orf9_uc010pmm.1_Silent_p.G1086G|C1orf9_uc009wwd.2_Silent_p.G1042G|C1orf9_uc010pmn.1_Silent_p.G715G|C1orf9_uc010pmo.1_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	1086					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		Colon(43;174 953 11768 38880 47057)								0.321534	285.870912	295.45301	109	230	KEEP	---	---	---	---	capture		Silent	SNP	172571920	172571920	2143	1	C	T	T	T	314	25	C1orf9	2	2
XPR1	9213	broad.mit.edu	37	1	180775252	180775252	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180775252G>T	uc001goi.2	+	c.502G>T	c.(502-504)GAA>TAA	p.E168*	XPR1_uc009wxm.2_Nonsense_Mutation_p.E168*|XPR1_uc009wxn.2_Nonsense_Mutation_p.E168*	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	168	SPX.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0														0.132653	16.42392	29.254655	13	85	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	180775252	180775252	18034	1	G	T	T	T	533	41	XPR1	5	2
RNASEL	6041	broad.mit.edu	37	1	182554508	182554508	+	Silent	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182554508G>A	uc001gpj.1	-	c.1434C>T	c.(1432-1434)TCC>TCT	p.S478S	RNASEL_uc009wxz.1_Silent_p.S478S|RNASEL_uc001gpk.2_Silent_p.S478S|RNASEL_uc009wya.1_Silent_p.S478S	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	478	Protein kinase.				mRNA processing|protein phosphorylation|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)	4										183				0.308411	94.736555	98.23613	33	74	KEEP	---	---	---	---	capture		Silent	SNP	182554508	182554508	13893	1	G	A	A	A	444	35	RNASEL	2	2
ALDH4A1	8659	broad.mit.edu	37	1	19202827	19202827	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19202827C>A	uc001bbb.2	-	c.1320G>T	c.(1318-1320)CAG>CAT	p.Q440H	ALDH4A1_uc010ocu.1_Missense_Mutation_p.Q380H|ALDH4A1_uc001bbc.2_Missense_Mutation_p.Q440H	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	440					oxidation-reduction process|proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)									0.47541	83.961616	83.994177	29	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19202827	19202827	504	1	C	A	A	A	311	24	ALDH4A1	2	2
PTPRC	5788	broad.mit.edu	37	1	198677294	198677294	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198677294C>A	uc001gur.1	+	c.931C>A	c.(931-933)CAA>AAA	p.Q311K	PTPRC_uc001gus.1_Missense_Mutation_p.Q263K|PTPRC_uc001gut.1_Missense_Mutation_p.Q150K|PTPRC_uc009wzf.1_Missense_Mutation_p.Q199K|PTPRC_uc010ppg.1_Missense_Mutation_p.Q247K	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	311	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.142857	14.730325	22.475735	9	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198677294	198677294	13254	1	C	A	A	A	221	17	PTPRC	2	2
CHIT1	1118	broad.mit.edu	37	1	203192352	203192352	+	Silent	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203192352G>A	uc001gzn.2	-	c.516C>T	c.(514-516)ACC>ACT	p.T172T	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.T163T	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	172					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0														0.177778	68.529166	86.099013	32	148	KEEP	---	---	---	---	capture		Silent	SNP	203192352	203192352	3480	1	G	A	A	A	444	35	CHIT1	2	2
REN	5972	broad.mit.edu	37	1	204124180	204124180	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204124180C>A	uc001haq.2	-	c.1185G>T	c.(1183-1185)CGG>CGT	p.R395R	ETNK2_uc001hao.3_5'Flank|ETNK2_uc001han.3_5'Flank|ETNK2_uc010pqs.1_5'Flank|ETNK2_uc010pqt.1_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	395					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			central_nervous_system(1)	1	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)									0.222222	10.332363	12.261278	6	21	KEEP	---	---	---	---	capture		Silent	SNP	204124180	204124180	13693	1	C	A	A	A	327	26	REN	2	2
KCNK2	3776	broad.mit.edu	37	1	215345469	215345469	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215345469G>C	uc001hkq.2	+	c.766G>C	c.(766-768)GCC>CCC	p.A256P	KCNK2_uc001hko.2_Missense_Mutation_p.A252P|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.3_Missense_Mutation_p.A241P	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	256							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)									0.298507	111.957618	116.815072	40	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215345469	215345469	8371	1	G	C	C	C	494	38	KCNK2	3	3
HEATR1	55127	broad.mit.edu	37	1	236749753	236749753	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236749753C>A	uc001hyd.1	-	c.1716_splice	c.e15-1	p.W572_splice		NM_018072	NP_060542			protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.25	50.977669	56.214068	23	69	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	236749753	236749753	7310	1	C	A	A	A	312	24	HEATR1	5	2
RYR2	6262	broad.mit.edu	37	1	237550672	237550672	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237550672C>A	uc001hyl.1	+	c.668C>A	c.(667-669)GCA>GAA	p.A223E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	223	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.413793	102.16783	102.735764	36	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237550672	237550672	14249	1	C	A	A	A	325	25	RYR2	2	2
ZP4	57829	broad.mit.edu	37	1	238048570	238048570	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238048570G>T	uc001hym.2	-	c.1206C>A	c.(1204-1206)GTC>GTA	p.V402V	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	402	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.279412	45.011375	47.978379	19	49	KEEP	---	---	---	---	capture		Silent	SNP	238048570	238048570	18822	1	G	T	T	T	522	41	ZP4	2	2
NLRP3	114548	broad.mit.edu	37	1	247608106	247608106	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247608106C>A	uc001icr.2	+	c.2994C>A	c.(2992-2994)TGC>TGA	p.C998*	NLRP3_uc001ics.2_Nonsense_Mutation_p.C941*|NLRP3_uc001icu.2_Nonsense_Mutation_p.C998*|NLRP3_uc001icw.2_Nonsense_Mutation_p.C941*|NLRP3_uc001icv.2_Nonsense_Mutation_p.C884*|NLRP3_uc010pyw.1_Nonsense_Mutation_p.C976*	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	998					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.28	33.162954	35.318811	14	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	247608106	247608106	10881	1	C	A	A	A	337	26	NLRP3	5	2
OR2T6	254879	broad.mit.edu	37	1	248551426	248551426	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248551426C>A	uc001iei.1	+	c.517C>A	c.(517-519)CAA>AAA	p.Q173K		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	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)											0.205128	17.376455	20.52365	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248551426	248551426	11435	1	C	A	A	A	273	21	OR2T6	2	2
GRIK3	2899	broad.mit.edu	37	1	37337884	37337884	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37337884C>A	uc001caz.2	-	c.637G>T	c.(637-639)GAC>TAC	p.D213Y	GRIK3_uc001cba.1_Missense_Mutation_p.D213Y	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	213	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.339286	53.415189	54.690399	19	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37337884	37337884	7054	1	C	A	A	A	403	31	GRIK3	1	1
CCDC30	728621	broad.mit.edu	37	1	43110454	43110454	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43110454G>T	uc009vwk.1	+	c.1866G>T	c.(1864-1866)AGG>AGT	p.R622S	CCDC30_uc001chm.2_Missense_Mutation_p.R320S|CCDC30_uc001chn.2_Missense_Mutation_p.R411S	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	622	Potential.										0														0.435897	42.676849	42.814079	17	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43110454	43110454	2927	1	G	T	T	T	529	41	CCDC30	2	2
ESF1	51575	broad.mit.edu	37	20	13714431	13714431	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13714431C>A	uc002woj.2	-	c.1887G>T	c.(1885-1887)CTG>CTT	p.L629L		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	629	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1														0.155963	27.921156	40.227817	17	92	KEEP	---	---	---	---	capture		Silent	SNP	13714431	13714431	5444	20	C	A	A	A	366	29	ESF1	2	2
SEL1L2	80343	broad.mit.edu	37	20	13971163	13971163	+	Silent	SNP	C	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13971163C>G	uc010gcf.2	-	c.18G>C	c.(16-18)CTG>CTC	p.L6L	SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Silent_p.L6L|SEL1L2_uc002wor.2_Intron	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	6						integral to membrane	binding			ovary(1)	1														0.088889	1.664321	9.348997	4	41	KEEP	---	---	---	---	capture		Silent	SNP	13971163	13971163	14497	20	C	G	G	G	210	17	SEL1L2	3	3
C20orf3	57136	broad.mit.edu	37	20	24954301	24954301	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:24954301C>A	uc002wtz.2	-	c.401G>T	c.(400-402)CGG>CTG	p.R134L	C20orf3_uc002wty.2_Missense_Mutation_p.R134L|C20orf3_uc010zsw.1_Missense_Mutation_p.R134L	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	chromosome 20 open reading frame 3	134	Extracellular (Potential).				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			ovary(1)	1														0.1875	17.745418	22.13783	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24954301	24954301	2189	20	C	A	A	A	299	23	C20orf3	1	1
VSX1	30813	broad.mit.edu	37	20	25059479	25059479	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25059479C>T	uc002wuf.2	-	c.613G>A	c.(613-615)GAA>AAA	p.E205K	VSX1_uc002wue.2_Non-coding_Transcript|VSX1_uc010gdd.1_Missense_Mutation_p.E205K|VSX1_uc010gde.1_Non-coding_Transcript|VSX1_uc010gdf.1_Missense_Mutation_p.E205K|VSX1_uc002wug.1_Missense_Mutation_p.E205K	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	visual system homeobox 1 isoform a	205	Homeobox.				regulation of transcription, DNA-dependent|response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.186992	40.595002	51.791842	23	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25059479	25059479	17800	20	C	T	T	T	403	31	VSX1	1	1
CHD6	84181	broad.mit.edu	37	20	40049592	40049593	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40049592_40049593CC>AA	uc002xka.1	-	c.5682_5683GG>TT	c.(5680-5685)ACGGAG>ACTTAG	p.E1895*		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1895					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.22093	40.006194	46.157595	19	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	40049592	40049593	3463	20	CC	AA	AA	AA	390	30	CHD6	5	2
PTPRT	11122	broad.mit.edu	37	20	41419861	41419861	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:41419861T>A	uc010ggj.2	-	c.460A>T	c.(460-462)AGC>TGC	p.S154C	PTPRT_uc002xkg.2_Missense_Mutation_p.S154C	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	154	Extracellular (Potential).|MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.216216	89.467332	103.255816	40	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41419861	41419861	13270	20	T	A	A	A	715	55	PTPRT	3	3
PREX1	57580	broad.mit.edu	37	20	47267458	47267458	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47267458C>A	uc002xtw.1	-	c.2791G>T	c.(2791-2793)GGC>TGC	p.G931C	PREX1_uc002xtv.1_Missense_Mutation_p.G228C	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	931					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)											0.290323	24.162171	25.383584	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47267458	47267458	12919	20	C	A	A	A	273	21	PREX1	2	2
MOCS3	27304	broad.mit.edu	37	20	49576281	49576281	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49576281G>T	uc002xvy.1	+	c.902G>T	c.(901-903)GGG>GTG	p.G301V	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	301					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			ovary(1)|skin(1)	2														0.272727	20.358467	21.897042	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49576281	49576281	10083	20	G	T	T	T	559	43	MOCS3	2	2
C20orf107	388799	broad.mit.edu	37	20	55111465	55111465	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55111465A>G	uc010zzh.1	+	c.487A>G	c.(487-489)AAA>GAA	p.K163E	C20orf107_uc002xxz.2_Missense_Mutation_p.K163E	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	hypothetical protein LOC388799 precursor	163	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)											0.106383	5.441929	12.670465	5	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55111465	55111465	2153	20	A	G	G	G	169	13	C20orf107	4	4
C20orf196	149840	broad.mit.edu	37	20	5844057	5844057	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5844057C>T	uc002wmf.2	+	c.566C>T	c.(565-567)TCA>TTA	p.S189L		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	hypothetical protein LOC149840	189											0														0.180851	32.614233	41.619124	17	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5844057	5844057	2179	20	C	T	T	T	377	29	C20orf196	2	2
LSM14B	149986	broad.mit.edu	37	20	60706504	60706504	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60706504T>A	uc010gjy.1	+	c.928T>A	c.(928-930)TGC>AGC	p.C310S	LSM14B_uc002ybv.2_Missense_Mutation_p.C284S|LSM14B_uc010zzz.1_Missense_Mutation_p.C230S	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	310	FFD-TFG box.				multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)											0.272727	8.220822	8.732503	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60706504	60706504	9431	20	T	A	A	A	715	55	LSM14B	3	3
PLCB1	23236	broad.mit.edu	37	20	8628575	8628575	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8628575C>A	uc002wnb.2	+	c.493C>A	c.(493-495)CCA>ACA	p.P165T	PLCB1_uc010zrb.1_Missense_Mutation_p.P64T|PLCB1_uc010gbv.1_Missense_Mutation_p.P165T|PLCB1_uc002wmz.1_Missense_Mutation_p.P165T|PLCB1_uc002wna.2_Missense_Mutation_p.P165T|PLCB1_uc002wnc.1_Missense_Mutation_p.P64T	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	165					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.160714	13.022261	19.191534	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8628575	8628575	12453	20	C	A	A	A	390	30	PLCB1	2	2
KRTAP6-2	337967	broad.mit.edu	37	21	31971050	31971050	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31971050G>T	uc011adc.1	-	c.144C>A	c.(142-144)TTC>TTA	p.F48L	KRTAP22-1_uc011add.1_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	48						intermediate filament					0														0.220339	27.844526	32.093774	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31971050	31971050	8892	21	G	T	T	T	425	33	KRTAP6-2	2	2
SON	6651	broad.mit.edu	37	21	34924840	34924840	+	Silent	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34924840G>C	uc002yse.1	+	c.3303G>C	c.(3301-3303)CGG>CGC	p.R1101R	SON_uc002ysb.1_Silent_p.R1101R|SON_uc002ysc.2_Silent_p.R1101R|SON_uc002ysd.2_Silent_p.R92R|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Silent_p.R92R	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1101	14 X 6 AA repeats of [ED]-R-S-M-M-S.|1-12.				anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.104167	4.641831	12.12302	5	43	KEEP	---	---	---	---	capture		Silent	SNP	34924840	34924840	15426	21	G	C	C	C	561	44	SON	3	3
C21orf29	54084	broad.mit.edu	37	21	45941862	45941862	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45941862C>A	uc002zfe.1	-	c.1470G>T	c.(1468-1470)CTG>CTT	p.L490L	C21orf29_uc010gpv.1_Silent_p.L422L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	490	EAR 4.				cell adhesion	extracellular region	structural molecule activity				0														0.236842	21.866238	24.264263	9	29	KEEP	---	---	---	---	capture		Silent	SNP	45941862	45941862	2204	21	C	A	A	A	262	21	C21orf29	2	2
CLTCL1	8218	broad.mit.edu	37	22	19184160	19184160	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19184160C>A	uc002zpb.2	-	c.3881G>T	c.(3880-3882)GGC>GTC	p.G1294V	CLTCL1_uc011agv.1_Missense_Mutation_p.G1294V|CLTCL1_uc011agw.1_Missense_Mutation_p.G1273V|CLTCL1_uc011agt.1_Missense_Mutation_p.G85V|CLTCL1_uc011agu.1_Missense_Mutation_p.G85V|CLTCL1_uc010grm.1_Missense_Mutation_p.G54V|CLTCL1_uc002zpe.2_3'UTR|CLTCL1_uc002zpd.1_Missense_Mutation_p.G201V	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1294	Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)									1206				0.272727	7.42063	7.932498	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19184160	19184160	3705	22	C	A	A	A	338	26	CLTCL1	2	2
SYN3	8224	broad.mit.edu	37	22	32914260	32914260	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32914260C>G	uc003amx.2	-	c.1380G>C	c.(1378-1380)AGG>AGC	p.R460S	SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Missense_Mutation_p.R459S|SYN3_uc011amc.1_Missense_Mutation_p.R94S	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	460	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity				0										35				0.25	26.638699	29.208294	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32914260	32914260	15963	22	C	G	G	G	337	26	SYN3	3	3
SEPT3	55964	broad.mit.edu	37	22	42388740	42388740	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42388740C>T	uc003bbr.3	+	c.838C>T	c.(838-840)CGA>TGA	p.R280*	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Nonsense_Mutation_p.R280*|SEPT3_uc010gyr.2_Nonsense_Mutation_p.R216*|SEPT3_uc011apj.1_Nonsense_Mutation_p.R216*|SEPT3_uc010gys.2_Nonsense_Mutation_p.R60*	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	280		GTP (By similarity).			cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0										112				0.162162	11.037533	15.044395	6	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42388740	42388740	14551	22	C	T	T	T	295	23	SEPT3	5	1
TBC1D8	11138	broad.mit.edu	37	2	101666962	101666962	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101666962A>G	uc010fiv.2	-	c.728T>C	c.(727-729)GTC>GCC	p.V243A	TBC1D8_uc010yvw.1_Missense_Mutation_p.V258A|TBC1D8_uc002tau.3_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	243					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3														0.363636	12.797602	12.977329	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101666962	101666962	16151	2	A	G	G	G	130	10	TBC1D8	4	4
ACOXL	55289	broad.mit.edu	37	2	111789245	111789245	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:111789245G>T	uc010yxk.1	+	c.1323G>T	c.(1321-1323)TCG>TCT	p.S441S	ACOXL_uc010fkc.2_Silent_p.S441S|ACOXL_uc002tgr.3_Silent_p.S471S	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 1	471					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0										368				0.238095	38.799665	42.74265	15	48	KEEP	---	---	---	---	capture		Silent	SNP	111789245	111789245	162	2	G	T	T	T	509	40	ACOXL	1	1
POTEF	728378	broad.mit.edu	37	2	130877663	130877663	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130877663C>A	uc010fmh.2	-	c.426G>T	c.(424-426)AAG>AAT	p.K142N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	142						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.147059	7.052625	11.122582	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130877663	130877663	12695	2	C	A	A	A	363	28	POTEF	2	2
NEB	4703	broad.mit.edu	37	2	152427080	152427080	+	Silent	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152427080C>T	uc010fnx.2	-	c.11946G>A	c.(11944-11946)GCG>GCA	p.A3982A	NEB_uc002txr.2_Silent_p.A405A	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3982					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.173913	7.488843	9.795855	4	19	KEEP	---	---	---	---	capture		Silent	SNP	152427080	152427080	10701	2	C	T	T	T	288	23	NEB	1	1
KCNJ3	3760	broad.mit.edu	37	2	155711558	155711558	+	Silent	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155711558C>T	uc002tyv.1	+	c.1239C>T	c.(1237-1239)CCC>CCT	p.P413P	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	413	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.186364	83.353104	103.551509	41	179	KEEP	---	---	---	---	capture		Silent	SNP	155711558	155711558	8357	2	C	T	T	T	262	21	KCNJ3	2	2
SCN3A	6328	broad.mit.edu	37	2	166018882	166018882	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166018882C>A	uc002ucx.2	-	c.968_splice	c.e9-1	p.S323_splice	SCN3A_uc002ucy.2_Splice_Site_SNP_p.S323_splice|SCN3A_uc002ucz.2_Splice_Site_SNP_p.S323_splice|SCN3A_uc002uda.1_Splice_Site_SNP_p.S192_splice|SCN3A_uc002udb.1_Splice_Site_SNP_p.S192_splice	NM_006922	NP_008853			sodium channel, voltage-gated, type III, alpha							voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.166667	31.341407	42.06354	17	85	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	166018882	166018882	14400	2	C	A	A	A	312	24	SCN3A	5	2
DHRS9	10170	broad.mit.edu	37	2	169938310	169938310	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169938310C>A	uc010zdc.1	+	c.399C>A	c.(397-399)ACC>ACA	p.T133T	DHRS9_uc002uep.2_Silent_p.T73T|DHRS9_uc002ueq.2_Silent_p.T73T|DHRS9_uc002uer.1_Silent_p.T73T|DHRS9_uc010zdd.1_Silent_p.T73T|DHRS9_uc010zde.1_Silent_p.T73T	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	73					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|oxidation-reduction process|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0														0.183673	35.142571	44.307608	18	80	KEEP	---	---	---	---	capture		Silent	SNP	169938310	169938310	4677	2	C	A	A	A	301	24	DHRS9	2	2
MYT1L	23040	broad.mit.edu	37	2	1842979	1842979	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1842979G>T	uc002qxe.2	-	c.3022C>A	c.(3022-3024)CCC>ACC	p.P1008T	MYT1L_uc002qxd.2_Missense_Mutation_p.P1006T|MYT1L_uc010ewk.2_Missense_Mutation_p.P4T	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1008	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)										0.363636	9.093039	9.274493	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1842979	1842979	10502	2	G	T	T	T	559	43	MYT1L	2	2
ZNF804A	91752	broad.mit.edu	37	2	185803625	185803625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185803625C>T	uc002uph.2	+	c.3502C>T	c.(3502-3504)CAG>TAG	p.Q1168*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1168						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.159763	45.818871	64.45387	27	142	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	185803625	185803625	18768	2	C	T	T	T	377	29	ZNF804A	5	2
CALCRL	10203	broad.mit.edu	37	2	188217032	188217032	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:188217032C>G	uc002upv.3	-	c.937G>C	c.(937-939)GTA>CTA	p.V313L	CALCRL_uc010frt.2_Missense_Mutation_p.V313L	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	313	Helical; Name=5; (Potential).					integral to plasma membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)											0.105263	4.77172	10.65641	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188217032	188217032	2696	2	C	G	G	G	221	17	CALCRL	3	3
ZDBF2	57683	broad.mit.edu	37	2	207169707	207169707	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207169707T>C	uc002vbp.2	+	c.455T>C	c.(454-456)GTT>GCT	p.V152A		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	152							nucleic acid binding|zinc ion binding			ovary(3)	3														0.162791	14.500015	19.145323	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207169707	207169707	18187	2	T	C	C	C	780	60	ZDBF2	4	4
APOB	338	broad.mit.edu	37	2	21233632	21233632	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21233632G>T	uc002red.2	-	c.6108C>A	c.(6106-6108)ATC>ATA	p.I2036I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2036					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)									0.163399	44.781802	61.251593	25	128	KEEP	---	---	---	---	capture		Silent	SNP	21233632	21233632	796	2	G	T	T	T	577	45	APOB	2	2
ABCA12	26154	broad.mit.edu	37	2	215848372	215848372	+	Silent	SNP	T	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215848372T>G	uc002vew.2	-	c.4381A>C	c.(4381-4383)AGG>CGG	p.R1461R	ABCA12_uc002vev.2_Silent_p.R1143R|ABCA12_uc010zjn.1_Silent_p.R388R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1461	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		Ovarian(66;664 1488 5121 34295)								0.183673	29.879772	39.100613	18	80	KEEP	---	---	---	---	capture		Silent	SNP	215848372	215848372	31	2	T	G	G	G	726	56	ABCA12	4	4
TRIP12	9320	broad.mit.edu	37	2	230654475	230654475	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230654475C>T	uc002vpx.1	-	c.4466G>A	c.(4465-4467)GGA>GAA	p.G1489E	TRIP12_uc002vpw.1_Missense_Mutation_p.G1441E|TRIP12_uc002vpy.1_Missense_Mutation_p.G1171E	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1441					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|breast(1)|central_nervous_system(1)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)										0.115385	13.529422	28.678982	12	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230654475	230654475	17106	2	C	T	T	T	390	30	TRIP12	2	2
C2orf57	165100	broad.mit.edu	37	2	232458213	232458213	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232458213C>A	uc002vrz.2	+	c.551C>A	c.(550-552)CCT>CAT	p.P184H		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	184										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)										0.25	14.537651	15.901889	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232458213	232458213	2266	2	C	A	A	A	312	24	C2orf57	2	2
TRPM8	79054	broad.mit.edu	37	2	234851353	234851353	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234851353C>A	uc002vvh.2	+	c.660C>A	c.(658-660)GTC>GTA	p.V220V	TRPM8_uc010fyj.2_5'UTR|TRPM8_uc002vvi.3_Silent_p.V170V|TRPM8_uc002vvj.3_Silent_p.V143V	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	220	Cytoplasmic (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)					505				0.202128	37.04407	44.833609	19	75	KEEP	---	---	---	---	capture		Silent	SNP	234851353	234851353	17143	2	C	A	A	A	405	32	TRPM8	2	2
COL6A3	1293	broad.mit.edu	37	2	238280775	238280775	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238280775C>A	uc002vwl.2	-	c.3885G>T	c.(3883-3885)GTG>GTT	p.V1295V	COL6A3_uc002vwo.2_Silent_p.V1089V|COL6A3_uc010znj.1_Silent_p.V688V|COL6A3_uc002vwq.2_Silent_p.V1089V|COL6A3_uc002vwr.2_Silent_p.V888V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1295	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.137255	9.190302	15.685946	7	44	KEEP	---	---	---	---	capture		Silent	SNP	238280775	238280775	3839	2	C	A	A	A	314	25	COL6A3	2	2
OR6B3	150681	broad.mit.edu	37	2	240984737	240984737	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240984737G>T	uc010zoe.1	-	c.753C>A	c.(751-753)TTC>TTA	p.F251L	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)										0.349206	59.629575	60.894304	22	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240984737	240984737	11599	2	G	T	T	T	425	33	OR6B3	2	2
NRXN1	9378	broad.mit.edu	37	2	50692594	50692594	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50692594G>T	uc010fbq.2	-	c.3470C>A	c.(3469-3471)CCA>CAA	p.P1157Q	NRXN1_uc002rxb.3_Missense_Mutation_p.P789Q|NRXN1_uc002rxe.3_Missense_Mutation_p.P1117Q|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.123288	11.023596	21.161644	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50692594	50692594	11070	2	G	T	T	T	611	47	NRXN1	2	2
EHBP1	23301	broad.mit.edu	37	2	63217959	63217959	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:63217959C>T	uc002sby.2	+	c.2930C>T	c.(2929-2931)TCA>TTA	p.S977L	EHBP1_uc010fcp.2_Missense_Mutation_p.S906L|EHBP1_uc002sbz.2_Missense_Mutation_p.S906L|EHBP1_uc002scb.2_Missense_Mutation_p.S942L	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	977						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)							379				0.197368	29.477333	35.965755	15	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63217959	63217959	5164	2	C	T	T	T	377	29	EHBP1	2	2
ALMS1	7840	broad.mit.edu	37	2	73675893	73675893	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73675893C>T	uc002sje.1	+	c.2242C>T	c.(2242-2244)CCT>TCT	p.P748S	ALMS1_uc002sjf.1_Missense_Mutation_p.P704S|ALMS1_uc002sjg.2_Missense_Mutation_p.P134S|ALMS1_uc002sjh.1_Missense_Mutation_p.P134S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	746	5.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.190635	116.84548	143.565422	57	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73675893	73675893	538	2	C	T	T	T	390	30	ALMS1	2	2
MYH15	22989	broad.mit.edu	37	3	108172929	108172929	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108172929T>C	uc003dxa.1	-	c.2383A>G	c.(2383-2385)AAA>GAA	p.K795E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	795	IQ.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.190476	38.056895	45.574645	16	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108172929	108172929	10429	3	T	C	C	C	793	61	MYH15	4	4
IQCB1	9657	broad.mit.edu	37	3	121491545	121491545	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121491545C>A	uc010hre.1	-	c.1426G>T	c.(1426-1428)GAT>TAT	p.D476Y	IQCB1_uc003eek.2_Missense_Mutation_p.D343Y|IQCB1_uc010hrf.1_Non-coding_Transcript	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	476					maintenance of organ identity|photoreceptor cell maintenance	photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)										0.20362	90.657316	108.680788	45	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121491545	121491545	8104	3	C	A	A	A	416	32	IQCB1	2	2
UROC1	131669	broad.mit.edu	37	3	126222906	126222906	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126222906C>G	uc010hsi.1	-	c.834G>C	c.(832-834)GAG>GAC	p.E278D	UROC1_uc003eiz.1_Missense_Mutation_p.E278D	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	278					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)										0.225806	17.111171	19.249965	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126222906	126222906	17590	3	C	G	G	G	415	32	UROC1	3	3
LRRIQ4	344657	broad.mit.edu	37	3	169540089	169540089	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:169540089A>T	uc003fgb.2	+	c.380A>T	c.(379-381)CAG>CTG	p.Q127L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	127	LRR 5.										0														0.22449	54.210574	61.037624	22	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169540089	169540089	9407	3	A	T	T	T	91	7	LRRIQ4	3	3
WDR53	348793	broad.mit.edu	37	3	196288135	196288135	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196288135T>C	uc003fwt.2	-	c.212A>G	c.(211-213)CAT>CGT	p.H71R		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	71										breast(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)										0.275862	37.47387	40.098498	16	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196288135	196288135	17878	3	T	C	C	C	663	51	WDR53	4	4
LRRC3B	116135	broad.mit.edu	37	3	26751695	26751695	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:26751695G>T	uc003cdp.2	+	c.532G>T	c.(532-534)GAT>TAT	p.D178Y	LRRC3B_uc003cdq.2_Missense_Mutation_p.D178Y	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	178	LRRCT.					integral to membrane				pancreas(2)|ovary(1)	3														0.121951	4.447851	10.188907	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26751695	26751695	9371	3	G	T	T	T	533	41	LRRC3B	2	2
SCN5A	6331	broad.mit.edu	37	3	38592784	38592784	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38592784G>T	uc003cio.2	-	c.5079C>A	c.(5077-5079)AAC>AAA	p.N1693K	SCN5A_uc003cin.2_Missense_Mutation_p.N1692K|SCN5A_uc003cil.3_Missense_Mutation_p.N1693K|SCN5A_uc010hhi.2_Missense_Mutation_p.N1675K|SCN5A_uc010hhk.2_Missense_Mutation_p.N1660K|SCN5A_uc011ayr.1_Missense_Mutation_p.N1639K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1693					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.164794	80.766065	109.22067	44	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38592784	38592784	14404	3	G	T	T	T	464	36	SCN5A	2	2
SCN10A	6336	broad.mit.edu	37	3	38743392	38743392	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38743392T>A	uc003ciq.2	-	c.4595A>T	c.(4594-4596)CAG>CTG	p.Q1532L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1532	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.238095	61.722151	68.302139	25	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38743392	38743392	14394	3	T	A	A	A	715	55	SCN10A	3	3
CCDC36	339834	broad.mit.edu	37	3	49294549	49294549	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49294549C>A	uc003cwk.2	+	c.1619C>A	c.(1618-1620)TCT>TAT	p.S540Y	CCDC36_uc011bck.1_Missense_Mutation_p.S540Y	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	540										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)										0.278351	63.780274	68.070093	27	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49294549	49294549	2930	3	C	A	A	A	416	32	CCDC36	2	2
STAB1	23166	broad.mit.edu	37	3	52539056	52539056	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52539056C>T	uc003dej.2	+	c.1415C>T	c.(1414-1416)ACG>ATG	p.T472M	STAB1_uc003dei.1_Missense_Mutation_p.T472M	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	472	Extracellular (Potential).|FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.176471	6.114554	7.791542	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52539056	52539056	15755	3	C	T	T	T	247	19	STAB1	1	1
ITIH1	3697	broad.mit.edu	37	3	52814365	52814365	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52814365C>A	uc003dfs.2	+	c.654C>A	c.(652-654)GCC>GCA	p.A218A	ITIH1_uc010hmn.1_Non-coding_Transcript|ITIH1_uc003dft.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	218					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)										0.2	5.717171	6.972692	3	12	KEEP	---	---	---	---	capture		Silent	SNP	52814365	52814365	8207	3	C	A	A	A	275	22	ITIH1	2	2
TRPC3	7222	broad.mit.edu	37	4	122853870	122853870	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122853870G>T	uc003ieg.2	-	c.543C>A	c.(541-543)CTC>CTA	p.L181L	TRPC3_uc010inr.2_Silent_p.L108L|TRPC3_uc003ief.2_Silent_p.L108L|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	96	Cytoplasmic (Potential).|ANK 3.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.189189	14.420729	17.751696	7	30	KEEP	---	---	---	---	capture		Silent	SNP	122853870	122853870	17130	4	G	T	T	T	470	37	TRPC3	1	1
FBXW7	55294	broad.mit.edu	37	4	153247364	153247364	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153247364C>A	uc003ims.2	-	c.1438G>T	c.(1438-1440)GAT>TAT	p.D480Y	FBXW7_uc011cii.1_Missense_Mutation_p.D480Y|FBXW7_uc003imt.2_Missense_Mutation_p.D480Y|FBXW7_uc011cih.1_Missense_Mutation_p.D304Y|FBXW7_uc003imq.2_Missense_Mutation_p.D400Y|FBXW7_uc003imr.2_Missense_Mutation_p.D362Y	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	480	WD 3.				interspecies interaction between organisms|negative regulation of DNA endoreduplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.D480Y(1)		haematopoietic_and_lymphoid_tissue(123)|large_intestine(99)|stomach(16)|endometrium(13)|ovary(9)|biliary_tract(8)|lung(4)|central_nervous_system(3)|kidney(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|skin(1)|NS(1)|bone(1)	289	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)								266				0.233766	38.411236	43.40768	18	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153247364	153247364	6006	4	C	A	A	A	416	32	FBXW7	2	2
C4orf41	60684	broad.mit.edu	37	4	184605296	184605296	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:184605296A>T	uc003ivx.2	+	c.1288_splice	c.e13-2	p.E430_splice	C4orf41_uc003ivw.2_Splice_Site_SNP_p.E430_splice|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Splice_Site_SNP_p.E36_splice	NM_021942	NP_068761			hypothetical protein LOC60684 isoform a												0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)										0.096774	2.002145	7.052737	3	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	184605296	184605296	2365	4	A	T	T	T	195	15	C4orf41	5	3
LPHN3	23284	broad.mit.edu	37	4	62598867	62598867	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62598867G>T	uc010ihh.2	+	c.790G>T	c.(790-792)GAC>TAC	p.D264Y	LPHN3_uc003hcq.3_Missense_Mutation_p.D264Y|LPHN3_uc010ihg.1_Missense_Mutation_p.D332Y|LPHN3_uc003hcs.1_Missense_Mutation_p.D93Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	264	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.148148	5.680441	8.8917	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62598867	62598867	9290	4	G	T	T	T	429	33	LPHN3	2	2
AFP	174	broad.mit.edu	37	4	74308042	74308042	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74308042C>A	uc003hha.1	+	c.512C>A	c.(511-513)CCC>CAC	p.P171H	AFP_uc003hgz.1_Missense_Mutation_p.P171H|AFP_uc011cbg.1_5'UTR	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	171	Albumin 1.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											0.296296	42.071114	44.08062	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74308042	74308042	364	4	C	A	A	A	286	22	AFP	2	2
NKX6-1	4825	broad.mit.edu	37	4	85416877	85416877	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85416877G>T	uc003hpa.1	-	c.791C>A	c.(790-792)CCC>CAC	p.P264H		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	264	Homeobox.|Repressor domain (By similarity).				detection of glucose|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus	transcription regulator activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)										0.192308	21.028386	25.619796	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85416877	85416877	10860	4	G	T	T	T	559	43	NKX6-1	2	2
DRD5	1816	broad.mit.edu	37	4	9783868	9783868	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9783868G>C	uc003gmb.3	+	c.215G>C	c.(214-216)CGC>CCC	p.R72P		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	72	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.15	5.779636	8.072762	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9783868	9783868	4944	4	G	C	C	C	494	38	DRD5	3	3
CEP120	153241	broad.mit.edu	37	5	122685675	122685675	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:122685675G>T	uc003ktk.2	-	c.2689C>A	c.(2689-2691)CGA>AGA	p.R897R	CEP120_uc011cwq.1_Silent_p.R706R	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	897	Potential.									ovary(1)	1														0.216667	30.949707	35.387069	13	47	KEEP	---	---	---	---	capture		Silent	SNP	122685675	122685675	3379	5	G	T	T	T	493	38	CEP120	1	1
MEGF10	84466	broad.mit.edu	37	5	126778734	126778734	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126778734G>C	uc003kuh.3	+	c.2407G>C	c.(2407-2409)GAT>CAT	p.D803H	MEGF10_uc003kui.3_Missense_Mutation_p.D803H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	803	Extracellular (Potential).|EGF-like 15.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.235294	17.762098	19.963894	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126778734	126778734	9849	5	G	C	C	C	585	45	MEGF10	3	3
FBN2	2201	broad.mit.edu	37	5	127681174	127681174	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127681174G>T	uc003kuu.2	-	c.3092C>A	c.(3091-3093)GCG>GAG	p.A1031E	FBN2_uc003kuv.2_Missense_Mutation_p.A998E	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1031	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.273973	49.118982	52.453374	20	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127681174	127681174	5939	5	G	T	T	T	494	38	FBN2	1	1
CDKL3	51265	broad.mit.edu	37	5	133642367	133642367	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:133642367C>A	uc003kzf.3	-	c.1391G>T	c.(1390-1392)CGC>CTC	p.R464L	CDKL3_uc011cxm.1_Missense_Mutation_p.R271L|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Missense_Mutation_p.R71L|CDKL3_uc011cxo.1_Missense_Mutation_p.R169L|CDKL3_uc011cxp.1_Missense_Mutation_p.R169L|CDKL3_uc011cxq.1_Missense_Mutation_p.R271L	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	464					protein phosphorylation	cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)						p.R71H(SNU1-Tumor)	391				0.192308	11.86287	14.159141	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133642367	133642367	3284	5	C	A	A	A	351	27	CDKL3	1	1
KLHL3	26249	broad.mit.edu	37	5	137045461	137045461	+	Silent	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137045461G>A	uc010jek.2	-	c.219C>T	c.(217-219)CCC>CCT	p.P73P	MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Silent_p.P33P	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	73	BTB.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)										0.291667	40.032867	41.897471	14	34	KEEP	---	---	---	---	capture		Silent	SNP	137045461	137045461	8696	5	G	A	A	A	444	35	KLHL3	2	2
PCDHB12	56124	broad.mit.edu	37	5	140588872	140588872	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140588872C>A	uc003liz.2	+	c.393C>A	c.(391-393)CCC>CCA	p.P131P	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	131	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.193878	43.402198	51.94539	19	79	KEEP	---	---	---	---	capture		Silent	SNP	140588872	140588872	11957	5	C	A	A	A	288	23	PCDHB12	1	1
PCDHGB3	56102	broad.mit.edu	37	5	140751895	140751895	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140751895C>A	uc003ljw.1	+	c.1934C>A	c.(1933-1935)ACT>AAT	p.T645N	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.T645N|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	645	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)											0.25	8.019537	8.70103	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140751895	140751895	11984	5	C	A	A	A	260	20	PCDHGB3	2	2
TRIO	7204	broad.mit.edu	37	5	14482690	14482690	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14482690G>T	uc003jff.2	+	c.6466_splice	c.e46-1	p.G2156_splice	TRIO_uc003jfg.2_Splice_Site_SNP|TRIO_uc003jfh.1_Splice_Site_SNP_p.G1805_splice	NM_007118	NP_009049			triple functional domain (PTPRF interacting)						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.333333	25.065849	25.730141	9	18	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	14482690	14482690	17102	5	G	T	T	T	455	35	TRIO	5	2
ADRB2	154	broad.mit.edu	37	5	148206398	148206398	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148206398G>A	uc003lpr.1	+	c.4G>A	c.(4-6)GGG>AGG	p.G2R	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	2	Extracellular.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)									0.214286	14.034759	16.145349	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148206398	148206398	342	5	G	A	A	A	559	43	ADRB2	2	2
NMUR2	56923	broad.mit.edu	37	5	151775020	151775020	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151775020C>A	uc003luv.2	-	c.937G>T	c.(937-939)GGT>TGT	p.G313C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	313	Helical; Name=7; (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)											0.178295	46.789027	59.32471	23	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151775020	151775020	10910	5	C	A	A	A	312	24	NMUR2	2	2
FBXL7	23194	broad.mit.edu	37	5	15928552	15928552	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928552C>A	uc003jfn.1	+	c.681C>A	c.(679-681)AAC>AAA	p.N227K		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	227	LRR 3.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.221374	70.623225	79.969935	29	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15928552	15928552	5961	5	C	A	A	A	246	19	FBXL7	1	1
CDH10	1008	broad.mit.edu	37	5	24537780	24537780	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24537780G>T	uc003jgr.1	-	c.235C>A	c.(235-237)CAT>AAT	p.H79N	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	79	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.095238	2.266501	9.174601	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24537780	24537780	3225	5	G	T	T	T	624	48	CDH10	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33596042	33596042	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33596042G>A	uc003jia.1	-	c.2651C>T	c.(2650-2652)CCC>CTC	p.P884L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P799L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	884					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.19	34.351892	43.363911	19	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33596042	33596042	258	5	G	A	A	A	559	43	ADAMTS12	2	2
SPEF2	79925	broad.mit.edu	37	5	35641547	35641547	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35641547A>T	uc003jjo.2	+	c.176A>T	c.(175-177)AAA>ATA	p.K59I	SPEF2_uc003jjn.1_Missense_Mutation_p.K59I|SPEF2_uc003jjq.3_Missense_Mutation_p.K59I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	59	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.155172	13.835745	20.429313	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35641547	35641547	15547	5	A	T	T	T	13	1	SPEF2	3	3
WASF1	8936	broad.mit.edu	37	6	110421772	110421772	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110421772C>G	uc003ptv.1	-	c.1633G>C	c.(1633-1635)GAT>CAT	p.D545H	WASF1_uc003ptw.1_Missense_Mutation_p.D545H|WASF1_uc003ptx.1_Missense_Mutation_p.D545H|WASF1_uc003pty.1_Missense_Mutation_p.D545H	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	545					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)										0.216216	20.580815	23.328796	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110421772	110421772	17824	6	C	G	G	G	377	29	WASF1	3	3
RFX6	222546	broad.mit.edu	37	6	117240356	117240356	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117240356C>A	uc003pxm.2	+	c.1079C>A	c.(1078-1080)TCC>TAC	p.S360Y		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	360					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.219512	18.25014	21.22435	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117240356	117240356	13739	6	C	A	A	A	390	30	RFX6	2	2
LAMA2	3908	broad.mit.edu	37	6	129674499	129674499	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129674499G>T	uc003qbn.2	+	c.4714G>T	c.(4714-4716)GTT>TTT	p.V1572F	LAMA2_uc003qbo.2_Missense_Mutation_p.V1572F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1572	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.196078	22.527555	26.912749	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129674499	129674499	8929	6	G	T	T	T	624	48	LAMA2	2	2
WDR27	253769	broad.mit.edu	37	6	170070699	170070699	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170070699C>A	uc010kkw.1	-	c.422G>T	c.(421-423)TGT>TTT	p.C141F	WDR27_uc003qwx.2_Missense_Mutation_p.C141F|WDR27_uc003qwy.2_Intron|WDR27_uc011egw.1_Non-coding_Transcript|WDR27_uc010kkx.2_3'UTR	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	WD repeat domain 27	141										pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)										0.175676	25.52556	32.870234	13	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170070699	170070699	17857	6	C	A	A	A	221	17	WDR27	2	2
PPT2	9374	broad.mit.edu	37	6	32122496	32122496	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32122496T>A	uc003nzw.2	+	c.143T>A	c.(142-144)GTG>GAG	p.V48E	PRRT1_uc003nzs.2_5'Flank|PRRT1_uc003nzt.2_5'Flank|PRRT1_uc003nzu.2_5'Flank|PPT2_uc003nzx.2_Missense_Mutation_p.V42E|PPT2_uc011dpi.1_Non-coding_Transcript|PPT2_uc003nzy.1_Non-coding_Transcript|PPT2_uc003nzz.2_Missense_Mutation_p.V42E|PPT2_uc003oaa.2_Missense_Mutation_p.V42E|PPT2_uc010jtu.1_Missense_Mutation_p.V42E	NM_138717	NP_619731	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform b	42					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0														0.1875	15.02585	19.459626	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32122496	32122496	12848	6	T	A	A	A	767	59	PPT2	3	3
OPN5	221391	broad.mit.edu	37	6	47775891	47775891	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47775891T>A	uc003ozc.2	+	c.758T>A	c.(757-759)GTA>GAA	p.V253E	OPN5_uc003ozd.2_Missense_Mutation_p.V88E	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	253	Helical; Name=6; (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)								0.177914	57.791207	73.702228	29	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47775891	47775891	11289	6	T	A	A	A	741	57	OPN5	3	3
LAMB4	22798	broad.mit.edu	37	7	107746311	107746311	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107746311C>A	uc010ljo.1	-	c.821G>T	c.(820-822)TGT>TTT	p.C274F	LAMB4_uc003vey.2_Missense_Mutation_p.C274F	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	274	Laminin EGF-like 1.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.315068	64.996579	67.218804	23	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107746311	107746311	8936	7	C	A	A	A	221	17	LAMB4	2	2
PAX4	5078	broad.mit.edu	37	7	127254935	127254935	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127254935C>T	uc010lld.1	-	c.335G>A	c.(334-336)AGT>AAT	p.S112N	PAX4_uc003vmf.2_Missense_Mutation_p.S110N|PAX4_uc003vmg.1_Missense_Mutation_p.S112N|PAX4_uc003vmh.2_Missense_Mutation_p.S110N	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	120	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1						Ovarian(113;737 1605 7858 27720 34092)								0.170213	14.569292	19.406854	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127254935	127254935	11901	7	C	T	T	T	260	20	PAX4	2	2
EPHB6	2051	broad.mit.edu	37	7	142568573	142568573	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142568573C>A	uc011kst.1	+	c.2982C>A	c.(2980-2982)ACC>ACA	p.T994T	EPHB6_uc011ksu.1_Silent_p.T994T|EPHB6_uc003wbs.2_Silent_p.T702T|EPHB6_uc003wbt.2_Silent_p.T468T|EPHB6_uc003wbu.2_Silent_p.T702T|EPHB6_uc003wbv.2_Silent_p.T378T	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	994	SAM.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.113636	4.548491	11.024363	5	39	KEEP	---	---	---	---	capture		Silent	SNP	142568573	142568573	5371	7	C	A	A	A	275	22	EPHB6	2	2
HDAC9	9734	broad.mit.edu	37	7	18688152	18688152	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18688152G>T	uc003sui.2	+	c.1313G>T	c.(1312-1314)AGA>ATA	p.R438I	HDAC9_uc003sue.2_Missense_Mutation_p.R435I|HDAC9_uc011jyd.1_Missense_Mutation_p.R435I|HDAC9_uc003suh.2_Missense_Mutation_p.R435I|HDAC9_uc003suj.2_Missense_Mutation_p.R394I|HDAC9_uc011jya.1_Missense_Mutation_p.R432I|HDAC9_uc003sua.1_Missense_Mutation_p.R413I|HDAC9_uc011jyb.1_Missense_Mutation_p.R391I|HDAC9_uc003sud.1_Missense_Mutation_p.R435I|HDAC9_uc011jyc.1_Missense_Mutation_p.R394I|HDAC9_uc003suf.1_Missense_Mutation_p.R466I|HDAC9_uc010kud.1_Missense_Mutation_p.R438I|HDAC9_uc011jye.1_Missense_Mutation_p.R407I|HDAC9_uc011jyf.1_Missense_Mutation_p.R358I|HDAC9_uc010kue.1_Missense_Mutation_p.R178I	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	435					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase 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)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.155172	41.015159	60.785634	27	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18688152	18688152	7297	7	G	T	T	T	429	33	HDAC9	2	2
DNAH11	8701	broad.mit.edu	37	7	21655913	21655913	+	Silent	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21655913G>A	uc003svc.2	+	c.4098G>A	c.(4096-4098)GCG>GCA	p.A1366A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1366	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.157895	26.868724	37.467565	15	80	KEEP	---	---	---	---	capture		Silent	SNP	21655913	21655913	4781	7	G	A	A	A	470	37	DNAH11	1	1
AMPH	273	broad.mit.edu	37	7	38471802	38471802	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38471802C>A	uc003tgu.2	-	c.1145G>T	c.(1144-1146)TGG>TTG	p.W382L	AMPH_uc003tgv.2_Missense_Mutation_p.W382L|AMPH_uc003tgt.2_Missense_Mutation_p.W135L|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	382					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.235294	57.799776	64.301247	24	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38471802	38471802	591	7	C	A	A	A	273	21	AMPH	2	2
MMD2	221938	broad.mit.edu	37	7	4949570	4949570	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4949570A>T	uc003sno.3	-	c.551T>A	c.(550-552)GTG>GAG	p.V184E	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.3_Missense_Mutation_p.V160E|MMD2_uc010ksq.2_Missense_Mutation_p.V160E	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	184	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)										0.27027	27.938043	29.696641	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4949570	4949570	10034	7	A	T	T	T	78	6	MMD2	3	3
TNRC18	84629	broad.mit.edu	37	7	5359984	5359984	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5359984T>C	uc003soi.3	-	c.6710A>G	c.(6709-6711)CAG>CGG	p.Q2237R		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2237							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)										0.272727	8.523843	9.033635	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5359984	5359984	16880	7	T	C	C	C	715	55	TNRC18	4	4
TBL2	26608	broad.mit.edu	37	7	72985127	72985127	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72985127T>C	uc003tyh.2	-	c.1054A>G	c.(1054-1056)AGT>GGT	p.S352G	TBL2_uc011kex.1_Missense_Mutation_p.S316G|TBL2_uc010lbg.2_Missense_Mutation_p.S257G|TBL2_uc003tyi.2_Missense_Mutation_p.S187G|TBL2_uc011key.1_Missense_Mutation_p.S223G|TBL2_uc010lbh.2_Missense_Mutation_p.S257G	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	352	WD 6.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.166667	6.883755	9.41424	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72985127	72985127	16168	7	T	C	C	C	715	55	TBL2	4	4
YWHAG	7532	broad.mit.edu	37	7	75959117	75959117	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75959117C>A	uc011kgj.1	-	c.521G>T	c.(520-522)GGC>GTC	p.G174V		NM_012479	NP_036611	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan	174					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			ovary(1)	1														0.192982	44.182843	54.217436	22	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75959117	75959117	18086	7	C	A	A	A	338	26	YWHAG	2	2
MSRA	4482	broad.mit.edu	37	8	10102618	10102618	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10102618G>T	uc003wsx.2	+	c.216G>T	c.(214-216)ATG>ATT	p.M72I	MSRA_uc011kwx.1_Intron|MSRA_uc011kwy.1_Missense_Mutation_p.M29I|MSRA_uc003wsz.2_Missense_Mutation_p.M29I|MSRA_uc003wsy.2_Missense_Mutation_p.M6I	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	72					methionine metabolic process|oxidation-reduction process|protein modification process|response to oxidative stress		peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	NSCLC(88;1378 1469 30580 49103 52286)								0.213115	59.480592	68.759827	26	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10102618	10102618	10280	8	G	T	T	T	611	47	MSRA	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110535061	110535061	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110535061C>A	uc003yne.2	+	c.12272C>A	c.(12271-12273)GCA>GAA	p.A4091E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4091	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.37931	29.714808	30.086412	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110535061	110535061	12397	8	C	A	A	A	325	25	PKHD1L1	2	2
EXT1	2131	broad.mit.edu	37	8	118831993	118831993	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:118831993C>A	uc003yok.1	-	c.1458G>T	c.(1456-1458)GCG>GCT	p.A486A		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	486	Lumenal (Potential).		A -> V (in EXT1; no loss of activity).	Missing: No effect on heparan-sulfate biosynthesis.|A->H: No effect on heparan-sulfate biosynthesis.	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(1)	3	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)						p.A486A(SKUT1-Tumor)	297				0.212121	65.00174	75.067705	28	104	KEEP	---	---	---	---	capture		Silent	SNP	118831993	118831993	5517	8	C	A	A	A	288	23	EXT1	1	1
MSR1	4481	broad.mit.edu	37	8	16032713	16032713	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:16032713A>T	uc010lsu.2	-	c.254T>A	c.(253-255)CTC>CAC	p.L85H	MSR1_uc003wwz.2_Missense_Mutation_p.L67H|MSR1_uc003wxa.2_Missense_Mutation_p.L67H|MSR1_uc003wxb.2_Missense_Mutation_p.L67H|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	67	Helical; Signal-anchor for type II membrane protein; (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)										0.246914	48.572819	53.286967	20	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16032713	16032713	10279	8	A	T	T	T	143	11	MSR1	3	3
CNOT7	29883	broad.mit.edu	37	8	17092352	17092352	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17092352T>C	uc003wxf.1	-	c.491A>G	c.(490-492)TAC>TGC	p.Y164C	CNOT7_uc003wxg.1_Missense_Mutation_p.Y164C|CNOT7_uc003wxh.1_Missense_Mutation_p.Y164C	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	164					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)										0.127907	17.771101	29.370304	11	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17092352	17092352	3762	8	T	C	C	C	741	57	CNOT7	4	4
TEX15	56154	broad.mit.edu	37	8	30700805	30700805	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30700805T>G	uc003xil.2	-	c.5729A>C	c.(5728-5730)CAA>CCA	p.Q1910P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1910										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.223684	45.638149	50.969473	17	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30700805	30700805	16306	8	T	G	G	G	819	63	TEX15	4	4
KCNU1	157855	broad.mit.edu	37	8	36721970	36721970	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36721970G>T	uc010lvw.2	+	c.1940G>T	c.(1939-1941)CGT>CTT	p.R647L	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	647	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.177083	71.331131	90.12788	34	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36721970	36721970	8398	8	G	T	T	T	520	40	KCNU1	1	1
ADAM2	2515	broad.mit.edu	37	8	39624684	39624684	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39624684G>T	uc003xnj.2	-	c.1299C>A	c.(1297-1299)TGC>TGA	p.C433*	ADAM2_uc003xnk.2_Nonsense_Mutation_p.C414*|ADAM2_uc011lck.1_Nonsense_Mutation_p.C433*|ADAM2_uc003xnl.2_Nonsense_Mutation_p.C307*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	433	Extracellular (Potential).|Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)										0.180952	40.883123	50.912492	19	86	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39624684	39624684	242	8	G	T	T	T	490	38	ADAM2	5	1
MYBL1	4603	broad.mit.edu	37	8	67477047	67477047	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67477047C>A	uc003xwj.2	-	c.2144G>T	c.(2143-2145)TGG>TTG	p.W715L	MYBL1_uc003xwl.2_Missense_Mutation_p.W655L|MYBL1_uc003xwk.2_Missense_Mutation_p.W654L	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)											0.230769	7.218113	8.081749	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67477047	67477047	10404	8	C	A	A	A	273	21	MYBL1	2	2
MYBL1	4603	broad.mit.edu	37	8	67492484	67492484	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67492484G>T	uc003xwj.2	-	c.985C>A	c.(985-987)CCT>ACT	p.P329T	MYBL1_uc003xwl.2_Missense_Mutation_p.P329T|MYBL1_uc003xwk.2_Missense_Mutation_p.P328T	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	329	Negative regulatory domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)											0.294118	35.136684	37.054011	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67492484	67492484	10404	8	G	T	T	T	546	42	MYBL1	2	2
PRDM14	63978	broad.mit.edu	37	8	70980553	70980553	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70980553G>C	uc003xym.2	-	c.824C>G	c.(823-825)GCC>GGC	p.A275G		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	275	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			NSCLC(129;99 1813 5906 40656 46114)								0.217391	11.054223	12.758996	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70980553	70980553	12897	8	G	C	C	C	546	42	PRDM14	3	3
ZFHX4	79776	broad.mit.edu	37	8	77690624	77690624	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77690624G>T	uc003yav.2	+	c.3196G>T	c.(3196-3198)GAC>TAC	p.D1066Y	ZFHX4_uc003yau.1_Missense_Mutation_p.D1092Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1066Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1066					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.20904	69.577392	83.472077	37	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77690624	77690624	18223	8	G	T	T	T	533	41	ZFHX4	2	2
SGK223	157285	broad.mit.edu	37	8	8185691	8185691	+	Silent	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:8185691C>A	uc003wsh.3	-	c.2601G>T	c.(2599-2601)GGG>GGT	p.G867G		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	867					protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GBM(34;731 755 10259 33573 33867)				135				0.176471	30.627459	40.663191	18	84	KEEP	---	---	---	---	capture		Silent	SNP	8185691	8185691	14701	8	C	A	A	A	379	30	SGK223	2	2
KCNS2	3788	broad.mit.edu	37	8	99441275	99441275	+	Silent	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99441275G>A	uc003yin.2	+	c.1068G>A	c.(1066-1068)GAG>GAA	p.E356E		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	356	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			Pancreas(138;844 2489 9202 24627)								0.129032	5.791221	9.93483	4	27	KEEP	---	---	---	---	capture		Silent	SNP	99441275	99441275	8394	8	G	A	A	A	451	35	KCNS2	2	2
GRIN3A	116443	broad.mit.edu	37	9	104432892	104432892	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104432892C>A	uc004bbp.1	-	c.1802G>T	c.(1801-1803)GGG>GTG	p.G601V	GRIN3A_uc004bbq.1_Missense_Mutation_p.G601V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	601	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.333333	35.961247	36.921048	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104432892	104432892	7062	9	C	A	A	A	286	22	GRIN3A	2	2
KIAA1958	158405	broad.mit.edu	37	9	115337360	115337360	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115337360G>C	uc011lwx.1	+	c.1000G>C	c.(1000-1002)GAT>CAT	p.D334H	KIAA1958_uc004bgf.1_Missense_Mutation_p.D334H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	334											0														0.247191	112.693018	123.00053	44	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115337360	115337360	8575	9	G	C	C	C	533	41	KIAA1958	3	3
RC3H2	54542	broad.mit.edu	37	9	125620998	125620998	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125620998C>A	uc010mwc.1	-	c.2233G>T	c.(2233-2235)GTG>TTG	p.V745L	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.V745L|RC3H2_uc004bne.3_Missense_Mutation_p.V745L	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	745						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(1)	1														0.407407	31.321806	31.523395	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125620998	125620998	13636	9	C	A	A	A	234	18	RC3H2	2	2
PIGO	84720	broad.mit.edu	37	9	35091498	35091498	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35091498C>A	uc003zwd.2	-	c.2386G>T	c.(2386-2388)GTG>TTG	p.V796L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.V359L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	796					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.24	29.887345	32.964054	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35091498	35091498	12318	9	C	A	A	A	221	17	PIGO	2	2
IRS4	8471	broad.mit.edu	37	X	107976364	107976364	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107976364C>G	uc004eoc.2	-	c.3211G>C	c.(3211-3213)GTA>CTA	p.V1071L		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1071						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|pancreas(1)	9														0.151899	23.446751	32.613075	12	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107976364	107976364	8146	23	C	G	G	G	221	17	IRS4	3	3
GUCY2F	2986	broad.mit.edu	37	X	108673616	108673616	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:108673616C>A	uc004eod.3	-	c.1711G>T	c.(1711-1713)GTG>TTG	p.V571L	GUCY2F_uc011msq.1_Non-coding_Transcript	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	571	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|protein phosphorylation|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8										308				0.195122	161.723089	197.220597	80	330	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108673616	108673616	7178	23	C	A	A	A	234	18	GUCY2F	2	2
RGAG1	57529	broad.mit.edu	37	X	109694088	109694088	+	Silent	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109694088A>T	uc004eor.1	+	c.243A>T	c.(241-243)GTA>GTT	p.V81V	RGAG1_uc011msr.1_Silent_p.V81V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	81										lung(2)|ovary(1)	3												OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.183274	200.163559	253.04176	103	459	KEEP	---	---	---	---	capture		Silent	SNP	109694088	109694088	13747	23	A	T	T	T	171	14	RGAG1	3	3
GRIA3	2892	broad.mit.edu	37	X	122616718	122616718	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:122616718G>T	uc004etq.3	+	c.2508G>T	c.(2506-2508)GGG>GGT	p.G836G	GRIA3_uc004etr.3_Silent_p.G836G|GRIA3_uc004ets.3_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	836	Helical; (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|pancreas(1)	4					L-Glutamic Acid(DB00142)					217				0.205357	43.914233	52.903013	23	89	KEEP	---	---	---	---	capture		Silent	SNP	122616718	122616718	7047	23	G	T	T	T	535	42	GRIA3	2	2
OCRL	4952	broad.mit.edu	37	X	128692649	128692649	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128692649T>A	uc004euq.2	+	c.479T>A	c.(478-480)TTG>TAG	p.L160*	OCRL_uc004eur.2_Nonsense_Mutation_p.L160*	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	160					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			lung(2)|ovary(1)|kidney(1)	4														0.207921	45.617592	53.601268	21	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128692649	128692649	11228	23	T	A	A	A	819	63	OCRL	5	3
DDX26B	203522	broad.mit.edu	37	X	134690115	134690115	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134690115A>T	uc004eyw.3	+	c.1082A>T	c.(1081-1083)AAG>ATG	p.K361M		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	361											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.165049	30.804845	41.780357	17	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134690115	134690115	4524	23	A	T	T	T	39	3	DDX26B	3	3
SLITRK2	84631	broad.mit.edu	37	X	144905795	144905795	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144905795C>A	uc004fcd.2	+	c.1852C>A	c.(1852-1854)CTG>ATG	p.L618M	SLITRK2_uc010nsp.2_Missense_Mutation_p.L618M|SLITRK2_uc010nso.2_Missense_Mutation_p.L618M|SLITRK2_uc011mwq.1_Missense_Mutation_p.L618M|SLITRK2_uc011mwr.1_Missense_Mutation_p.L618M|SLITRK2_uc011mws.1_Missense_Mutation_p.L618M|SLITRK2_uc004fcg.2_Missense_Mutation_p.L618M|SLITRK2_uc011mwt.1_Missense_Mutation_p.L618M	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	618	Extracellular (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.107143	6.409016	14.984081	6	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144905795	144905795	15241	23	C	A	A	A	259	20	SLITRK2	2	2
PASD1	139135	broad.mit.edu	37	X	150840929	150840929	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150840929C>A	uc004fev.3	+	c.1712C>A	c.(1711-1713)CCA>CAA	p.P571Q		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	571						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.234568	44.608777	49.813026	19	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150840929	150840929	11888	23	C	A	A	A	273	21	PASD1	2	2
GABRA3	2556	broad.mit.edu	37	X	151358394	151358394	+	Silent	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151358394G>C	uc010ntk.1	-	c.951C>G	c.(949-951)ACC>ACG	p.T317T		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	317	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	NSCLC(142;2578 2613 10251 16743)								0.171717	24.21242	34.315766	17	82	KEEP	---	---	---	---	capture		Silent	SNP	151358394	151358394	6413	23	G	C	C	C	600	47	GABRA3	3	3
MECP2	4204	broad.mit.edu	37	X	153297830	153297830	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153297830C>A	uc004fjw.2	-	c.241G>T	c.(241-243)GGC>TGC	p.G81C	MECP2_uc004fjv.2_Missense_Mutation_p.G69C	NM_001110792	NP_001104262	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 2	69					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.186047	14.165484	18.155272	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153297830	153297830	9812	23	C	A	A	A	312	24	MECP2	2	2
FUNDC2	65991	broad.mit.edu	37	X	154282908	154282908	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154282908G>T	uc004fmw.2	+	c.531G>T	c.(529-531)GGG>GGT	p.G177G		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	177						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.176471	55.810769	72.537074	30	140	KEEP	---	---	---	---	capture		Silent	SNP	154282908	154282908	6349	23	G	T	T	T	548	43	FUNDC2	2	2
NHS	4810	broad.mit.edu	37	X	17739711	17739711	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:17739711G>T	uc011mix.1	+	c.1066G>T	c.(1066-1068)GCC>TCC	p.A356S	NHS_uc004cxx.2_Missense_Mutation_p.A335S|NHS_uc004cxy.2_Missense_Mutation_p.A179S|NHS_uc004cxz.2_Missense_Mutation_p.A158S|NHS_uc004cya.2_Missense_Mutation_p.A58S	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 2	335						nucleus				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6	Hepatocellular(33;0.183)													0.121212	27.670189	55.50695	24	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17739711	17739711	10811	23	G	T	T	T	598	46	NHS	2	2
DCAF8L1	139425	broad.mit.edu	37	X	27998107	27998107	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27998107G>T	uc004dbx.1	-	c.1345C>A	c.(1345-1347)CGG>AGG	p.R449R		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	449	WD 6.									ovary(3)	3														0.211538	23.997642	28.002205	11	41	KEEP	---	---	---	---	capture		Silent	SNP	27998107	27998107	4448	23	G	T	T	T	506	39	DCAF8L1	1	1
MAGEB1	4112	broad.mit.edu	37	X	30269224	30269224	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30269224T>A	uc004dcc.2	+	c.614T>A	c.(613-615)CTG>CAG	p.L205Q	MAGEB1_uc004dcd.2_Missense_Mutation_p.L205Q|MAGEB1_uc004dce.2_Missense_Mutation_p.L205Q	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	205	MAGE.										0														0.27907	32.184686	34.070438	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30269224	30269224	9553	23	T	A	A	A	715	55	MAGEB1	3	3
TAB3	257397	broad.mit.edu	37	X	30872236	30872236	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30872236G>T	uc004dcj.2	-	c.1546C>A	c.(1546-1548)CAA>AAA	p.Q516K	TAB3_uc004dck.2_Missense_Mutation_p.Q516K|TAB3_uc010ngl.2_Missense_Mutation_p.Q516K	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	516					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						Pancreas(164;1598 1985 29022 43301 49529)								0.214286	14.334908	16.445302	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30872236	30872236	16018	23	G	T	T	T	624	48	TAB3	2	2
MXRA5	25878	broad.mit.edu	37	X	3229248	3229248	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3229248C>A	uc004crg.3	-	c.6996G>T	c.(6994-6996)AAG>AAT	p.K2332N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2332	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.166667	19.428373	26.346977	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3229248	3229248	10397	23	C	A	A	A	311	24	MXRA5	2	2
FAM47B	170062	broad.mit.edu	37	X	34961433	34961433	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34961433C>A	uc004ddi.1	+	c.485C>A	c.(484-486)GCT>GAT	p.A162D		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	162										ovary(3)|breast(1)	4														0.16129	13.502288	20.300697	10	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34961433	34961433	5791	23	C	A	A	A	364	28	FAM47B	2	2
ATP6AP2	10159	broad.mit.edu	37	X	40458922	40458923	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:40458922_40458923GG>TT	uc004det.2	+	c.667_668GG>TT	c.(667-669)GGG>TTG	p.G223L	ATP6AP2_uc010nhc.2_Non-coding_Transcript|ATP6AP2_uc011mkl.1_Missense_Mutation_p.G147L|ATP6AP2_uc011mkm.1_Missense_Mutation_p.G191L|ATP6AP2_uc011mkn.1_Missense_Mutation_p.G145L|ATP6AP2_uc004deu.1_Missense_Mutation_p.G88L	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	223	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0														0.243902	25.548682	27.986255	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	40458922	40458923	1186	23	GG	TT	TT	TT	611	47	ATP6AP2	2	2
PHF16	9767	broad.mit.edu	37	X	46898443	46898443	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:46898443G>T	uc004dgx.2	+	c.948G>T	c.(946-948)AAG>AAT	p.K316N	PHF16_uc004dgy.2_Missense_Mutation_p.K316N	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	316					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0														0.210526	37.061407	42.950839	16	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46898443	46898443	12250	23	G	T	T	T	464	36	PHF16	2	2
PHF16	9767	broad.mit.edu	37	X	46913593	46913593	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:46913593G>T	uc004dgx.2	+	c.1006G>T	c.(1006-1008)GTC>TTC	p.V336F	PHF16_uc004dgy.2_Missense_Mutation_p.V336F	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	336					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0														0.225	22.958847	25.734405	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46913593	46913593	12250	23	G	T	T	T	520	40	PHF16	1	1
PRAF2	11230	broad.mit.edu	37	X	48930132	48930132	+	Silent	SNP	G	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48930132G>A	uc004dmi.2	-	c.357C>T	c.(355-357)GGC>GGT	p.G119G	PRAF2_uc004dmh.2_Non-coding_Transcript|PRAF2_uc011mmt.1_Silent_p.G233G	NM_007213	NP_009144	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	119	Helical; (Potential).				L-glutamate transport|protein transport	endosome membrane|integral to membrane					0														0.375	6.636817	6.740716	3	5	KEEP	---	---	---	---	capture		Silent	SNP	48930132	48930132	12858	23	G	A	A	A	483	38	PRAF2	1	1
DGKK	139189	broad.mit.edu	37	X	50213372	50213372	+	Silent	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50213372G>T	uc010njr.1	-	c.306C>A	c.(304-306)GCC>GCA	p.A102A		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	102	14.|33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)													0.235294	8.795741	9.88245	4	13	KEEP	---	---	---	---	capture		Silent	SNP	50213372	50213372	4651	23	G	T	T	T	548	43	DGKK	2	2
ARR3	407	broad.mit.edu	37	X	69496325	69496325	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69496325C>A	uc004dyb.2	+	c.388C>A	c.(388-390)CCT>ACT	p.P130T	ARR3_uc004dya.2_Missense_Mutation_p.P130T	NM_004312	NP_004303	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	130					signal transduction|visual perception	cytoplasm|soluble fraction				large_intestine(2)|ovary(2)	4														0.142857	7.550436	11.853654	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69496325	69496325	997	23	C	A	A	A	390	30	ARR3	2	2
POF1B	79983	broad.mit.edu	37	X	84563198	84563198	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84563198G>T	uc004ees.2	-	c.982C>A	c.(982-984)CTC>ATC	p.L328I	POF1B_uc004eer.2_Missense_Mutation_p.L328I	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	328							actin binding				0														0.258065	20.287425	21.930656	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84563198	84563198	12610	23	G	T	T	T	468	36	POF1B	2	2
KLHL4	56062	broad.mit.edu	37	X	86869504	86869504	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86869504C>A	uc004efa.2	+	c.658C>A	c.(658-660)CAA>AAA	p.Q220K	KLHL4_uc004efb.2_Missense_Mutation_p.Q220K	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 2	220	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.230769	29.672963	33.127076	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86869504	86869504	8705	23	C	A	A	A	221	17	KLHL4	2	2
PCDH19	57526	broad.mit.edu	37	X	99661647	99661647	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99661647G>C	uc010nmz.2	-	c.1949C>G	c.(1948-1950)ACA>AGA	p.T650R	PCDH19_uc004efw.3_Missense_Mutation_p.T650R|PCDH19_uc004efx.3_Missense_Mutation_p.T650R	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	650	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.214286	5.363007	6.387433	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99661647	99661647	11934	23	G	C	C	C	624	48	PCDH19	3	3
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	-	-	rs35089393		TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1651191_1651199delGGCTGTGGA	uc001lty.2	+	c.121_129delGGCTGTGGA	c.(121-129)GGCTGTGGAdel	p.GCG47del		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47_49						keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.67			4	2		---	---	---	---	capture_indel		In_Frame_Del	DEL	1651191	1651199	8886	11	GGCTGTGGA	-	-	-	507	39	KRTAP5-5	5	5
TBKBP1	9755	broad.mit.edu	37	17	45776772	45776773	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45776772_45776773insG	uc002ilu.2	+	c.721_722insG	c.(721-723)CGGfs	p.R241fs		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	241	Potential.				innate immune response						0												OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	45776772	45776773	16164	17	-	G	G	G	295	23	TBKBP1	5	5
RBM15	64783	broad.mit.edu	37	1	110882461	110882461	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110882461_110882461delG	uc001dzl.1	+	c.434_434delG	c.(433-435)CGGfs	p.R145fs	RBM15_uc001dzm.1_Frame_Shift_Del_p.R145fs	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	145	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)						100		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.53			8	7		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	110882461	110882461	13577	1	G	-	-	-	507	39	RBM15	5	5
OBSCN	84033	broad.mit.edu	37	1	228506631	228506632	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228506631_228506632insC	uc009xez.1	+	c.14178_14179insC	c.(14176-14181)TTGCCCfs	p.L4726fs	OBSCN_uc001hsn.2_Frame_Shift_Ins_p.L4726fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4726_4727					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.31			5	11		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	228506631	228506632	11217	1	-	C	C	C	594	46	OBSCN	5	5
FRMD3	257019	broad.mit.edu	37	9	86153111	86153111	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z018-01	TCGA-17-Z018-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86153111_86153111delC	uc004ams.1	-	c.36_36delG	c.(34-36)AGGfs	p.R12fs	FRMD3_uc004amr.1_5'UTR	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	12						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	86153111	86153111	6300	9	C	-	-	-	389	30	FRMD3	5	5
