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
DNMBP	23268	broad.mit.edu	37	10	101716089	101716089	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101716089G>A	uc001kqj.2	-	c.1142C>T	c.(1141-1143)GCA>GTA	p.A381V	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	381					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)										0.482353	114.965633	114.988735	41	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101716089	101716089	4857	10	G	A	A	A	598	46	DNMBP	2	2
KCNK18	338567	broad.mit.edu	37	10	118969235	118969235	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118969235C>A	uc010qsr.1	+	c.580C>A	c.(580-582)CCC>ACC	p.P194T		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	194	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Colorectal(252;0.19)		all cancers(201;0.0211)										0.607595	147.605514	148.403961	48	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118969235	118969235	8370	10	C	A	A	A	338	26	KCNK18	2	2
C10orf120	399814	broad.mit.edu	37	10	124457454	124457454	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124457454G>T	uc001lgn.2	-	c.803C>A	c.(802-804)CCC>CAC	p.P268H		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	268										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)												0.461538	212.681255	212.88243	72	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124457454	124457454	1625	10	G	T	T	T	559	43	C10orf120	2	2
VENTX	27287	broad.mit.edu	37	10	135053656	135053656	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135053656T>A	uc010quy.1	+	c.623T>A	c.(622-624)GTG>GAG	p.V208E		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	208					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)										0.65	41.476999	41.873335	13	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135053656	135053656	17720	10	T	A	A	A	767	59	VENTX	3	3
VENTX	27287	broad.mit.edu	37	10	135053658	135053658	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135053658G>T	uc010quy.1	+	c.625G>T	c.(625-627)GCA>TCA	p.A209S		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	209					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)										0.631579	34.394123	34.68094	12	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135053658	135053658	17720	10	G	T	T	T	546	42	VENTX	2	2
CYP2E1	1571	broad.mit.edu	37	10	135345697	135345697	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135345697G>T	uc001lnj.1	+	c.557G>T	c.(556-558)CGC>CTC	p.R186L	CYP2E1_uc001lnk.1_Missense_Mutation_p.R49L|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	186					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)									0.2	39.497997	47.03261	18	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135345697	135345697	4335	10	G	T	T	T	494	38	CYP2E1	1	1
ITGA8	8516	broad.mit.edu	37	10	15713616	15713616	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15713616C>T	uc001ioc.1	-	c.833G>A	c.(832-834)GGG>GAG	p.G278E	ITGA8_uc010qcb.1_Intron	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	278	Extracellular (Potential).|FG-GAP 4.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.098361	5.901916	15.748252	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15713616	15713616	8186	10	C	T	T	T	286	22	ITGA8	2	2
SLC39A12	221074	broad.mit.edu	37	10	18266952	18266952	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18266952C>A	uc001ipo.2	+	c.873C>A	c.(871-873)TTC>TTA	p.F291L	SLC39A12_uc001ipn.2_Missense_Mutation_p.F291L|SLC39A12_uc001ipp.2_Missense_Mutation_p.F291L|SLC39A12_uc010qck.1_Missense_Mutation_p.F157L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	291	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.180791	61.876411	78.850061	32	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18266952	18266952	15112	10	C	A	A	A	415	32	SLC39A12	2	2
LYZL1	84569	broad.mit.edu	37	10	29578149	29578149	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:29578149C>A	uc001iul.2	+	c.103C>A	c.(103-105)CTG>ATG	p.L35M		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	Error:Variant_position_missing_in_Q6UWQ5_after_alignment					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Breast(68;0.203)												0.3	15.741095	16.456504	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29578149	29578149	9508	10	C	A	A	A	415	32	LYZL1	2	2
KIF5B	3799	broad.mit.edu	37	10	32337440	32337440	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:32337440T>C	uc001iwe.3	-	c.166A>G	c.(166-168)ACA>GCA	p.T56A		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	56	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)												0.207317	87.631738	100.687242	34	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32337440	32337440	8617	10	T	C	C	C	767	59	KIF5B	4	4
RET	5979	broad.mit.edu	37	10	43609932	43609932	+	Silent	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43609932A>G	uc001jal.2	+	c.1884A>G	c.(1882-1884)CCA>CCG	p.P628P	RET_uc001jak.1_Silent_p.P628P|RET_uc010qez.1_Silent_p.P374P	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	628	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity	p.D627_L633>E(1)		thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.25	32.204995	35.405068	14	42	KEEP	---	---	---	---	capture		Silent	SNP	43609932	43609932	13705	10	A	G	G	G	67	6	RET	4	4
CSGALNACT2	55454	broad.mit.edu	37	10	43651103	43651103	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43651103A>G	uc001jan.2	+	c.506A>G	c.(505-507)GAA>GGA	p.E169G	CSGALNACT2_uc001jam.1_Missense_Mutation_p.E169G	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	169	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1														0.317391	247.207074	254.018008	73	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43651103	43651103	4080	10	A	G	G	G	117	9	CSGALNACT2	4	4
CHAT	1103	broad.mit.edu	37	10	50824643	50824643	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50824643G>C	uc001jhz.2	+	c.382G>C	c.(382-384)GAG>CAG	p.E128Q	CHAT_uc001jhv.1_Missense_Mutation_p.E10Q|CHAT_uc001jhx.1_Missense_Mutation_p.E10Q|CHAT_uc001jhy.1_Missense_Mutation_p.E10Q|CHAT_uc001jia.2_Missense_Mutation_p.E10Q|CHAT_uc010qgs.1_Missense_Mutation_p.E10Q	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	128					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)									0.21875	20.307099	22.639756	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50824643	50824643	3447	10	G	C	C	C	533	41	CHAT	3	3
JMJD1C	221037	broad.mit.edu	37	10	64973792	64973792	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64973792G>A	uc001jmn.2	-	c.2135C>T	c.(2134-2136)ACA>ATA	p.T712I	JMJD1C_uc001jml.2_Missense_Mutation_p.T493I|JMJD1C_uc001jmm.2_Missense_Mutation_p.T424I|JMJD1C_uc010qiq.1_Missense_Mutation_p.T530I|JMJD1C_uc009xpi.2_Missense_Mutation_p.T530I|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.T424I	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	712					blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.183908	61.1865	77.509619	32	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64973792	64973792	8254	10	G	A	A	A	624	48	JMJD1C	2	2
SPOCK2	9806	broad.mit.edu	37	10	73826772	73826772	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73826772G>A	uc001jso.1	-	c.816C>T	c.(814-816)GCC>GCT	p.A272A	SPOCK2_uc001jsp.2_Silent_p.A272A	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	272					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0														0.123596	13.758151	26.097418	11	78	KEEP	---	---	---	---	capture		Silent	SNP	73826772	73826772	15593	10	G	A	A	A	600	47	SPOCK2	2	2
CDHR1	92211	broad.mit.edu	37	10	85971993	85971993	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85971993G>T	uc001kcv.2	+	c.1612G>T	c.(1612-1614)GCT>TCT	p.A538S	CDHR1_uc001kcw.2_Missense_Mutation_p.A538S|CDHR1_uc009xst.2_Missense_Mutation_p.A242S|CDHR1_uc001kcx.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	538	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1														0.62963	177.462054	178.669333	51	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85971993	85971993	3247	10	G	T	T	T	494	38	CDHR1	1	1
SLIT1	6585	broad.mit.edu	37	10	98808755	98808755	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98808755G>T	uc001kmw.2	-	c.1422C>A	c.(1420-1422)AAC>AAA	p.N474K	SLIT1_uc009xvh.1_Missense_Mutation_p.N484K	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	474	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)										0.541667	165.573159	165.71518	52	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98808755	98808755	15237	10	G	T	T	T	620	48	SLIT1	2	2
C11orf70	85016	broad.mit.edu	37	11	101946661	101946661	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101946661G>T	uc001pgp.2	+	c.493G>T	c.(493-495)GAG>TAG	p.E165*	C11orf70_uc001pgo.2_3'UTR|C11orf70_uc001pgq.2_Nonsense_Mutation_p.E127*	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	hypothetical protein LOC85016	165											0	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)										0.309524	135.631645	141.065943	52	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101946661	101946661	1698	11	G	T	T	T	429	33	C11orf70	5	2
TMEM123	114908	broad.mit.edu	37	11	102323343	102323343	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102323343G>A	uc001pha.2	-	c.12C>T	c.(10-12)GGC>GGT	p.G4G	TMEM123_uc009yxc.2_Silent_p.G4G	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	transmembrane protein 123 precursor	4					oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(2)	2	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)						67				0.363636	10.195343	10.375923	4	7	KEEP	---	---	---	---	capture		Silent	SNP	102323343	102323343	16567	11	G	A	A	A	483	38	TMEM123	1	1
ZW10	9183	broad.mit.edu	37	11	113608356	113608357	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113608356_113608357CC>AA	uc001poe.2	-	c.1953_1954GG>TT	c.(1951-1956)AAGGCT>AATTCT	p.651_652KA>NS	ZW10_uc009yyv.2_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	651_652					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)	1		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)										0.347826	248.52337	253.694557	88	165	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	113608356	113608357	18852	11	CC	AA	AA	AA	338	26	ZW10	2	2
FXYD6	53826	broad.mit.edu	37	11	117711080	117711080	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117711080G>T	uc001pro.1	-	c.213C>A	c.(211-213)GCC>GCA	p.A71A	FXYD6_uc001prn.1_Intron|FXYD6_uc001prp.1_Silent_p.A71A|FXYD6_uc001prq.1_Silent_p.A71A|FXYD6_uc001prr.1_Silent_p.A71A|FXYD6_uc009yzq.1_Silent_p.A71A	NM_022003	NP_071286	Q9H0Q3	FXYD6_HUMAN	FXYD domain-containing ion transport regulator 6	71	Cytoplasmic (Potential).					integral to membrane|plasma membrane	ion channel activity			central_nervous_system(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)										0.371134	103.024637	104.419789	36	61	KEEP	---	---	---	---	capture		Silent	SNP	117711080	117711080	6373	11	G	T	T	T	548	43	FXYD6	2	2
TMEM225	338661	broad.mit.edu	37	11	123754037	123754037	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123754037G>T	uc001pzi.2	-	c.486C>A	c.(484-486)TGC>TGA	p.C162*		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	162						integral to membrane				pancreas(1)	1														0.336538	99.688467	102.148848	35	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123754037	123754037	16683	11	G	T	T	T	594	46	TMEM225	5	2
OR10G7	390265	broad.mit.edu	37	11	123909148	123909148	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123909148G>T	uc001pzq.1	-	c.561C>A	c.(559-561)GCC>GCA	p.A187A		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)										0.298295	274.13155	286.936737	105	247	KEEP	---	---	---	---	capture		Silent	SNP	123909148	123909148	11308	11	G	T	T	T	444	35	OR10G7	2	2
OR8D1	283159	broad.mit.edu	37	11	124180032	124180032	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124180032T>C	uc010sag.1	-	c.631A>G	c.(631-633)ACC>GCC	p.T211A		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)										0.08	-0.424409	8.560689	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124180032	124180032	11642	11	T	C	C	C	767	59	OR8D1	4	4
OR8D1	283159	broad.mit.edu	37	11	124180094	124180094	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124180094G>T	uc010sag.1	-	c.569C>A	c.(568-570)TCC>TAC	p.S190Y		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)										0.25	43.98782	48.306652	19	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124180094	124180094	11642	11	G	T	T	T	533	41	OR8D1	2	2
DCPS	28960	broad.mit.edu	37	11	126215448	126215448	+	Silent	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:126215448C>G	uc001qdp.2	+	c.954C>G	c.(952-954)ACC>ACG	p.T318T		NM_014026	NP_054745	Q96C86	DCPS_HUMAN	mRNA decapping enzyme	318					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)										0.072202	-5.732191	46.466152	20	257	KEEP	---	---	---	---	capture		Silent	SNP	126215448	126215448	4472	11	C	G	G	G	301	24	DCPS	3	3
MPPED2	744	broad.mit.edu	37	11	30439067	30439067	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30439067A>T	uc001msr.2	-	c.650T>A	c.(649-651)CTA>CAA	p.L217Q	MPPED2_uc001msq.3_Missense_Mutation_p.L217Q|MPPED2_uc009yji.2_Missense_Mutation_p.L91Q	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	217					nervous system development		hydrolase activity|metal ion binding			skin(1)	1										119				0.105263	3.673624	9.557488	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30439067	30439067	10134	11	A	T	T	T	195	15	MPPED2	3	3
DEPDC7	91614	broad.mit.edu	37	11	33053077	33053077	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33053077T>A	uc001mub.2	+	c.936T>A	c.(934-936)AGT>AGA	p.S312R	DEPDC7_uc001muc.2_Missense_Mutation_p.S303R	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	312					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1														0.433071	161.900456	162.396666	55	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33053077	33053077	4623	11	T	A	A	A	738	57	DEPDC7	3	3
EXT2	2132	broad.mit.edu	37	11	44129611	44129611	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44129611G>C	uc001mya.2	+	c.448G>C	c.(448-450)GAC>CAC	p.D150H	EXT2_uc010rfo.1_Missense_Mutation_p.D145H|EXT2_uc001mxy.2_Missense_Mutation_p.D130H|EXT2_uc001mxz.2_Missense_Mutation_p.D117H|EXT2_uc009ykt.2_Missense_Mutation_p.D117H	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	117	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic 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				0										271				0.516667	113.605685	113.619483	31	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44129611	44129611	5518	11	G	C	C	C	585	45	EXT2	3	3
OR51G1	79324	broad.mit.edu	37	11	4945495	4945495	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4945495G>T	uc010qyr.1	-	c.75C>A	c.(73-75)CTC>CTA	p.L25L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.189474	34.586929	43.162944	18	77	KEEP	---	---	---	---	capture		Silent	SNP	4945495	4945495	11508	11	G	T	T	T	522	41	OR51G1	2	2
OR4C12	283093	broad.mit.edu	37	11	50003169	50003169	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:50003169G>T	uc010ria.1	-	c.869C>A	c.(868-870)GCT>GAT	p.A290D		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	290	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.244681	54.071175	59.661517	23	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50003169	50003169	11452	11	G	T	T	T	442	34	OR4C12	2	2
OR4C46	119749	broad.mit.edu	37	11	51515839	51515839	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515839C>A	uc010ric.1	+	c.558C>A	c.(556-558)GCC>GCA	p.A186A		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.364286	139.973298	142.247108	51	89	KEEP	---	---	---	---	capture		Silent	SNP	51515839	51515839	11458	11	C	A	A	A	301	24	OR4C46	2	2
OR4C15	81309	broad.mit.edu	37	11	55322295	55322295	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55322295G>T	uc010rig.1	+	c.513G>T	c.(511-513)ATG>ATT	p.M171I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.28125	116.014861	122.891405	45	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55322295	55322295	11454	11	G	T	T	T	611	47	OR4C15	2	2
UBQLNL	143630	broad.mit.edu	37	11	5537492	5537492	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5537492C>A	uc001maz.3	-	c.180G>T	c.(178-180)TTG>TTT	p.L60F	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	60	Ubiquitin-like.									large_intestine(2)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)										0.176471	28.679102	37.060963	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5537492	5537492	17458	11	C	A	A	A	272	21	UBQLNL	2	2
OR5D14	219436	broad.mit.edu	37	11	55563362	55563362	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563362G>T	uc010rim.1	+	c.331G>T	c.(331-333)GTG>TTG	p.V111L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.432099	109.211855	109.537703	35	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55563362	55563362	11565	11	G	T	T	T	572	44	OR5D14	2	2
OR9G9	504191	broad.mit.edu	37	11	56468369	56468369	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56468369G>T	uc010rjn.1	+	c.506G>T	c.(505-507)TGT>TTT	p.C169F		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.129032	43.431014	72.552865	28	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56468369	56468369	11663	11	G	T	T	T	520	40	OR9G9	1	1
TRIM22	10346	broad.mit.edu	37	11	5717680	5717680	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5717680A>G	uc001mbr.2	+	c.218A>G	c.(217-219)CAT>CGT	p.H73R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.H73R|TRIM22_uc009yes.2_Missense_Mutation_p.H73R|TRIM22_uc010qzm.1_5'UTR|TRIM22_uc009yeu.2_5'UTR	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	73					immune response|interspecies interaction between organisms|protein trimerization|regulation of transcription, DNA-dependent|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GBM(104;491 2336 5222)								0.395349	102.234569	103.057696	34	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5717680	5717680	17040	11	A	G	G	G	104	8	TRIM22	4	4
OR5B21	219968	broad.mit.edu	37	11	58275328	58275328	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58275328C>A	uc010rki.1	-	c.251G>T	c.(250-252)CGG>CTG	p.R84L		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.173913	13.465382	18.106852	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58275328	58275328	11561	11	C	A	A	A	299	23	OR5B21	1	1
SLC15A3	51296	broad.mit.edu	37	11	60711284	60711284	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60711284C>T	uc001nqn.2	-	c.873G>A	c.(871-873)CTG>CTA	p.L291L	SLC15A3_uc001nqo.2_Silent_p.L291L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	291					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0														0.238095	11.563327	12.880061	5	16	KEEP	---	---	---	---	capture		Silent	SNP	60711284	60711284	14895	11	C	T	T	T	262	21	SLC15A3	2	2
CHKA	1119	broad.mit.edu	37	11	67864518	67864518	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67864518G>A	uc001onj.2	-	c.430C>T	c.(430-432)CTC>TTC	p.L144F	CHKA_uc001onk.2_Missense_Mutation_p.L144F	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	144					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)									0.384615	106.200355	107.263658	35	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67864518	67864518	3481	11	G	A	A	A	442	34	CHKA	2	2
MTL5	9633	broad.mit.edu	37	11	68514725	68514725	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68514725T>A	uc001ooc.2	-	c.581A>T	c.(580-582)GAA>GTA	p.E194V	MTL5_uc001ood.1_Missense_Mutation_p.E194V|MTL5_uc009ysi.1_Missense_Mutation_p.E194V|MTL5_uc001ooe.2_Missense_Mutation_p.E194V	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	194					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)											0.227513	91.931561	104.809326	43	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68514725	68514725	10329	11	T	A	A	A	806	62	MTL5	3	3
OR10A2	341276	broad.mit.edu	37	11	6891376	6891376	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6891376C>A	uc001meu.1	+	c.391C>A	c.(391-393)CTG>ATG	p.L131M		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	131	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)										0.39604	239.048739	240.961878	80	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6891376	6891376	11296	11	C	A	A	A	259	20	OR10A2	2	2
NLRP10	338322	broad.mit.edu	37	11	7982367	7982367	+	Missense_Mutation	SNP	C	A	A	rs112117055		TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7982367C>A	uc001mfv.1	-	c.792G>T	c.(790-792)AAG>AAT	p.K264N		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	264	NACHT.						ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)					p.K264K(P3HR1-Tumor)|p.K264K(NALM1-Tumor)	109				0.39645	185.989509	187.574512	67	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7982367	7982367	10875	11	C	A	A	A	415	32	NLRP10	2	2
TRIM49	57093	broad.mit.edu	37	11	89531490	89531490	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89531490G>C	uc001pdb.2	-	c.1167C>G	c.(1165-1167)TGC>TGG	p.C389W		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	ring finger protein 18	389	B30.2/SPRY.					intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.346939	115.832593	117.853813	34	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89531490	89531490	17069	11	G	C	C	C	594	46	TRIM49	3	3
MAML2	84441	broad.mit.edu	37	11	95826046	95826046	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:95826046C>A	uc001pfw.1	-	c.1149G>T	c.(1147-1149)AGG>AGT	p.R383S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	383					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)								501				0.346154	23.465998	24.00981	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95826046	95826046	9589	11	C	A	A	A	337	26	MAML2	2	2
UHRF1BP1L	23074	broad.mit.edu	37	12	100452831	100452831	+	Nonsense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100452831G>A	uc001tgq.2	-	c.2224C>T	c.(2224-2226)CAG>TAG	p.Q742*	UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.Q392*	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	742										ovary(1)	1														0.134146	30.127389	51.429671	22	142	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100452831	100452831	17527	12	G	A	A	A	598	46	UHRF1BP1L	5	2
NOS1	4842	broad.mit.edu	37	12	117703232	117703232	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117703232C>A	uc001twm.1	-	c.2025G>T	c.(2023-2025)GGG>GGT	p.G675G		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	675					arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.307692	9.295348	9.723904	4	9	KEEP	---	---	---	---	capture		Silent	SNP	117703232	117703232	10944	12	C	A	A	A	275	22	NOS1	2	2
EP400	57634	broad.mit.edu	37	12	132476772	132476772	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132476772G>T	uc001ujn.2	+	c.2734G>T	c.(2734-2736)GAA>TAA	p.E912*	EP400_uc001ujl.2_Nonsense_Mutation_p.E911*|EP400_uc001ujm.2_Nonsense_Mutation_p.E912*|EP400_uc001ujk.2_Nonsense_Mutation_p.E948*	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	948					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)										0.196825	145.422975	172.474867	62	253	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	132476772	132476772	5342	12	G	T	T	T	481	37	EP400	5	1
CACNA1C	775	broad.mit.edu	37	12	2794992	2794992	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2794992C>A	uc009zdu.1	+	c.5913C>A	c.(5911-5913)CTC>CTA	p.L1971L	CACNA1C_uc009zdv.1_Silent_p.L1885L|CACNA1C_uc001qkb.2_Silent_p.L1888L|CACNA1C_uc001qkc.2_Silent_p.L1907L|CACNA1C_uc001qke.2_Silent_p.L1877L|CACNA1C_uc001qkf.2_Silent_p.L1896L|CACNA1C_uc001qjz.2_Silent_p.L1888L|CACNA1C_uc001qkd.2_Silent_p.L1907L|CACNA1C_uc001qkg.2_Silent_p.L1894L|CACNA1C_uc009zdw.1_Silent_p.L1929L|CACNA1C_uc001qkh.2_Silent_p.L1896L|CACNA1C_uc001qkl.2_Silent_p.L1936L|CACNA1C_uc001qkn.2_Silent_p.L1888L|CACNA1C_uc001qko.2_Silent_p.L1908L|CACNA1C_uc001qkp.2_Silent_p.L1888L|CACNA1C_uc001qkr.2_Silent_p.L1905L|CACNA1C_uc001qku.2_Silent_p.L1923L|CACNA1C_uc001qkq.2_Silent_p.L1916L|CACNA1C_uc001qks.2_Silent_p.L1888L|CACNA1C_uc001qkt.2_Silent_p.L1907L|CACNA1C_uc001qki.1_Silent_p.L1695L|CACNA1C_uc001qkj.1_Silent_p.L1659L|CACNA1C_uc001qkk.1_Silent_p.L1624L|CACNA1C_uc001qkm.1_Silent_p.L1684L|CACNA1C_uc010sea.1_Silent_p.L579L|CACNA1C_uc001qky.1_Silent_p.L206L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1971	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.439024	52.148961	52.280714	18	23	KEEP	---	---	---	---	capture		Silent	SNP	2794992	2794992	2656	12	C	A	A	A	379	30	CACNA1C	2	2
ERGIC2	51290	broad.mit.edu	37	12	29524531	29524531	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29524531C>T	uc001riv.2	-	c.36G>A	c.(34-36)TTG>TTA	p.L12L	ERGIC2_uc001riw.2_Non-coding_Transcript	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	12	Cytoplasmic (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)									0.369048	85.498011	86.765935	31	53	KEEP	---	---	---	---	capture		Silent	SNP	29524531	29524531	5417	12	C	T	T	T	272	21	ERGIC2	2	2
TMTC1	83857	broad.mit.edu	37	12	29725102	29725102	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29725102C>A	uc001rjb.2	-	c.1144G>T	c.(1144-1146)GCC>TCC	p.A382S	TMTC1_uc001riz.2_Missense_Mutation_p.A139S|TMTC1_uc001rja.2_Missense_Mutation_p.A226S|TMTC1_uc001rjc.1_Missense_Mutation_p.A444S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	382	TPR 1.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.17094	39.119523	51.107774	20	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29725102	29725102	16801	12	C	A	A	A	325	25	TMTC1	2	2
FAM60A	58516	broad.mit.edu	37	12	31435745	31435745	+	Silent	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31435745T>C	uc001rkc.2	-	c.642A>G	c.(640-642)ACA>ACG	p.T214T	FAM60A_uc010sjz.1_Silent_p.T189T|FAM60A_uc001rkd.2_Silent_p.T189T|FAM60A_uc010ska.1_Silent_p.T189T|FAM60A_uc001rke.2_Silent_p.T189T|FAM60A_uc010skb.1_Non-coding_Transcript	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	189											0	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)													0.192771	37.05827	44.367826	16	67	KEEP	---	---	---	---	capture		Silent	SNP	31435745	31435745	5818	12	T	C	C	C	756	59	FAM60A	4	4
ADAMTS20	80070	broad.mit.edu	37	12	43823488	43823488	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43823488C>A	uc010skx.1	-	c.3421G>T	c.(3421-3423)GAG>TAG	p.E1141*	ADAMTS20_uc001rno.1_Intron|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.E295*	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1141						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				0.4	18.246757	18.378029	6	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43823488	43823488	267	12	C	A	A	A	377	29	ADAMTS20	5	2
ADAMTS20	80070	broad.mit.edu	37	12	43847848	43847848	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43847848C>A	uc010skx.1	-	c.1622G>T	c.(1621-1623)CGT>CTT	p.R541L		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	541	Disintegrin.					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				0.351351	41.665743	42.386102	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43847848	43847848	267	12	C	A	A	A	247	19	ADAMTS20	1	1
LARP4	113251	broad.mit.edu	37	12	50834321	50834321	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50834321G>T	uc001rwo.1	+	c.757G>T	c.(757-759)GAT>TAT	p.D253Y	LARP4_uc001rwp.1_Missense_Mutation_p.D247Y|LARP4_uc001rwq.1_Missense_Mutation_p.D247Y|LARP4_uc001rwr.1_Missense_Mutation_p.D247Y|LARP4_uc001rws.1_Missense_Mutation_p.D246Y|LARP4_uc009zlr.1_Missense_Mutation_p.D66Y|LARP4_uc001rwt.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.D247Y|LARP4_uc001rwn.2_Missense_Mutation_p.D177Y	NM_199188	NP_954658	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform b	247	RRM.						nucleotide binding|RNA binding			ovary(1)	1														0.144	25.063202	40.326311	18	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50834321	50834321	8953	12	G	T	T	T	429	33	LARP4	2	2
KRT6A	3853	broad.mit.edu	37	12	52884515	52884515	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52884515C>A	uc001sam.2	-	c.915G>T	c.(913-915)GAG>GAT	p.E305D		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	305	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.396947	145.46271	146.682963	52	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52884515	52884515	8795	12	C	A	A	A	363	28	KRT6A	2	2
STAT2	6773	broad.mit.edu	37	12	56750038	56750038	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56750038T>A	uc001slc.2	-	c.163A>T	c.(163-165)AAG>TAG	p.K55*	STAT2_uc001sld.2_Nonsense_Mutation_p.K55*|STAT2_uc010sqn.1_Nonsense_Mutation_p.K55*	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	55					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3														0.189655	22.49406	27.717381	11	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56750038	56750038	15785	12	T	A	A	A	819	63	STAT2	5	3
PLEKHG6	55200	broad.mit.edu	37	12	6424235	6424235	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6424235G>A	uc001qnr.2	+	c.359G>A	c.(358-360)CGG>CAG	p.R120Q	PLEKHG6_uc001qns.2_Missense_Mutation_p.R120Q|PLEKHG6_uc010sew.1_Missense_Mutation_p.R120Q|PLEKHG6_uc010sex.1_Missense_Mutation_p.R88Q	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	120					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1														0.306667	64.094374	66.5955	23	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6424235	6424235	12500	12	G	A	A	A	507	39	PLEKHG6	1	1
IFFO1	25900	broad.mit.edu	37	12	6664921	6664921	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6664921T>A	uc010sfe.1	-	c.275A>T	c.(274-276)CAT>CTT	p.H92L	IFFO1_uc001qpe.1_Non-coding_Transcript|IFFO1_uc001qpf.1_Missense_Mutation_p.H92L|IFFO1_uc001qpc.1_Missense_Mutation_p.H92L|IFFO1_uc001qpd.1_Missense_Mutation_p.H92L	NM_001039670	NP_001034759	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 4	92	Potential.					intermediate filament					0														0.127273	11.090926	18.537934	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6664921	6664921	7810	12	T	A	A	A	663	51	IFFO1	3	3
ING4	51147	broad.mit.edu	37	12	6760378	6760378	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6760378C>G	uc001qpw.3	-	c.733G>C	c.(733-735)GAA>CAA	p.E245Q	ING4_uc001qpv.3_Missense_Mutation_p.E244Q|ING4_uc001qpy.3_Missense_Mutation_p.E241Q|ING4_uc001qpx.3_Missense_Mutation_p.E242Q|ING4_uc009zes.2_3'UTR|ING4_uc009zet.2_Missense_Mutation_p.E221Q|ING4_uc009zeu.2_Non-coding_Transcript|ING4_uc009zev.2_Non-coding_Transcript	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4 isoform 9	245	PHD-type.				apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|ovary(1)	4														0.526316	74.503045	74.525963	20	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6760378	6760378	8039	12	C	G	G	G	416	32	ING4	3	3
TPH2	121278	broad.mit.edu	37	12	72332773	72332773	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72332773C>G	uc009zrw.1	+	c.7C>G	c.(7-9)CCA>GCA	p.P3A	TPH2_uc001swy.2_5'Flank	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	3					aromatic amino acid family metabolic process|hormone biosynthetic process|oxidation-reduction process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)	3					L-Tryptophan(DB00150)							OREG0021996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.233333	60.678685	66.592083	21	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72332773	72332773	16946	12	C	G	G	G	338	26	TPH2	3	3
NAP1L1	4673	broad.mit.edu	37	12	76454042	76454042	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76454042T>G	uc001sxw.2	-	c.224A>C	c.(223-225)AAA>ACA	p.K75T	NAP1L1_uc001sxv.2_Missense_Mutation_p.K33T|NAP1L1_uc001sxz.2_Missense_Mutation_p.K33T|NAP1L1_uc001sxx.2_Missense_Mutation_p.K75T|NAP1L1_uc001sxy.2_Missense_Mutation_p.K12T|NAP1L1_uc010sty.1_Missense_Mutation_p.K33T|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Missense_Mutation_p.K75T|NAP1L1_uc001syb.2_Missense_Mutation_p.K75T|NAP1L1_uc001sya.2_Missense_Mutation_p.K33T|NAP1L1_uc001syc.2_Missense_Mutation_p.K75T	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	75					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)	1		Colorectal(145;0.09)												0.198582	78.623148	90.541402	28	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76454042	76454042	10552	12	T	G	G	G	832	64	NAP1L1	4	4
NAV3	89795	broad.mit.edu	37	12	78225462	78225462	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78225462C>T	uc001syp.2	+	c.221C>T	c.(220-222)GCC>GTC	p.A74V	NAV3_uc001syo.2_Missense_Mutation_p.A74V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	74						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.105263	7.479822	22.198732	10	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78225462	78225462	10581	12	C	T	T	T	338	26	NAV3	2	2
NAV3	89795	broad.mit.edu	37	12	78400408	78400408	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78400408G>T	uc001syp.2	+	c.1090G>T	c.(1090-1092)GAC>TAC	p.D364Y	NAV3_uc001syo.2_Missense_Mutation_p.D364Y	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	364						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.409091	72.796581	73.276791	27	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78400408	78400408	10581	12	G	T	T	T	429	33	NAV3	2	2
LUM	4060	broad.mit.edu	37	12	91502412	91502412	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91502412C>A	uc001tbm.2	-	c.345G>T	c.(343-345)TTG>TTT	p.L115F	LUM_uc001tbn.2_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	115					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2														0.322314	102.573205	105.9707	39	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91502412	91502412	9461	12	C	A	A	A	376	29	LUM	2	2
MPHOSPH8	54737	broad.mit.edu	37	13	20235960	20235960	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:20235960C>T	uc001umg.2	+	c.1914C>T	c.(1912-1914)CTC>CTT	p.L638L	MPHOSPH8_uc001umh.2_Silent_p.L638L	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	638	ANK 2.				cell cycle|chromatin assembly or disassembly	chromatin|cytoplasm|nucleus	chromatin binding				0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)										0.168919	43.276667	58.644865	25	123	KEEP	---	---	---	---	capture		Silent	SNP	20235960	20235960	10119	13	C	T	T	T	366	29	MPHOSPH8	2	2
SACS	26278	broad.mit.edu	37	13	23929924	23929924	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:23929924C>T	uc001uon.2	-	c.827G>A	c.(826-828)CGC>CAC	p.R276H	SACS_uc001uoo.2_Missense_Mutation_p.R129H|SACS_uc001uop.1_Missense_Mutation_p.R63H|SACS_uc001uoq.1_Missense_Mutation_p.R129H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	276					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)						738				0.35	89.187772	91.175937	35	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23929924	23929924	14284	13	C	T	T	T	351	27	SACS	1	1
ATP8A2	51761	broad.mit.edu	37	13	26114522	26114522	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26114522G>C	uc001uqk.2	+	c.647G>C	c.(646-648)CGT>CCT	p.R216P	ATP8A2_uc010tdi.1_Missense_Mutation_p.R176P|ATP8A2_uc010tdj.1_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.R176P	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	176	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.410526	142.612865	143.275971	39	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26114522	26114522	1212	13	G	C	C	C	520	40	ATP8A2	3	3
ZC3H13	23091	broad.mit.edu	37	13	46559510	46559510	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46559510T>A	uc010tfw.1	-	c.1642A>T	c.(1642-1644)AGA>TGA	p.R548*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R548*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R548*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	548	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.135484	33.566047	53.52503	21	134	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46559510	46559510	18153	13	T	A	A	A	713	55	ZC3H13	5	3
C13orf1	57213	broad.mit.edu	37	13	50510295	50510295	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:50510295G>C	uc001vdl.2	-	c.77C>G	c.(76-78)CCG>CGG	p.P26R	C13orf1_uc001vdm.2_Missense_Mutation_p.P26R|C13orf1_uc010tgm.1_Non-coding_Transcript|C13orf1_uc010adj.2_Missense_Mutation_p.P26R	NM_020456	NP_065189	Q5W111	CLLD6_HUMAN	chromosome 13 open reading frame 1 isoform 1	26	B30.2/SPRY.										0		Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117)		GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208)								OREG0022415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.277778	11.920565	12.758369	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50510295	50510295	1764	13	G	C	C	C	507	39	C13orf1	3	3
WDFY2	115825	broad.mit.edu	37	13	52158888	52158888	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52158888G>T	uc001vfp.2	+	c.65G>T	c.(64-66)GGG>GTG	p.G22V	WDFY2_uc010ads.1_Missense_Mutation_p.G22V|WDFY2_uc010adt.1_Non-coding_Transcript	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	22	WD 1.						zinc ion binding				0		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)										0.404762	40.263162	40.594769	17	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52158888	52158888	17841	13	G	T	T	T	559	43	WDFY2	2	2
CCDC70	83446	broad.mit.edu	37	13	52439526	52439526	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52439526G>A	uc001vfu.3	+	c.12G>A	c.(10-12)CCG>CCA	p.P4P		NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	4						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)										0.222222	29.233541	33.694914	14	49	KEEP	---	---	---	---	capture		Silent	SNP	52439526	52439526	2966	13	G	A	A	A	483	38	CCDC70	1	1
THSD1	55901	broad.mit.edu	37	13	52971467	52971467	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52971467C>T	uc001vgo.2	-	c.921G>A	c.(919-921)TTG>TTA	p.L307L	THSD1_uc001vgp.2_Silent_p.L307L|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	307	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)										0.48	141.234472	141.266204	48	52	KEEP	---	---	---	---	capture		Silent	SNP	52971467	52971467	16405	13	C	T	T	T	220	17	THSD1	2	2
CYP46A1	10858	broad.mit.edu	37	14	100166391	100166391	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100166391G>T	uc001ygo.2	+	c.396G>T	c.(394-396)GAG>GAT	p.E132D	CYP46A1_uc001ygn.1_Missense_Mutation_p.E94D	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	132					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)												0.130435	7.715331	13.830072	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100166391	100166391	4347	14	G	T	T	T	438	34	CYP46A1	2	2
HECTD1	25831	broad.mit.edu	37	14	31642990	31642990	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31642990C>A	uc001wrc.1	-	c.626G>T	c.(625-627)TGC>TTC	p.C209F		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	209					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)										0.454545	15.573698	15.593513	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31642990	31642990	7322	14	C	A	A	A	325	25	HECTD1	2	2
FAM179B	23116	broad.mit.edu	37	14	45468632	45468632	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45468632G>C	uc001wvw.2	+	c.2270G>C	c.(2269-2271)TGT>TCT	p.C757S	FAM179B_uc001wvv.2_Missense_Mutation_p.C757S|FAM179B_uc010anc.2_Non-coding_Transcript|FAM179B_uc001wvu.2_Missense_Mutation_p.C757S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	757							binding				0														0.181102	65.345715	77.483183	23	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45468632	45468632	5712	14	G	C	C	C	624	48	FAM179B	3	3
RPL10L	140801	broad.mit.edu	37	14	47120296	47120296	+	Nonstop_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47120296C>A	uc001wwg.2	-	c.644G>T	c.(643-645)TGA>TTA	p.*215L		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	215					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1														0.508475	83.338385	83.341858	30	29	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	47120296	47120296	14035	14	C	A	A	A	376	29	RPL10L	5	2
MDGA2	161357	broad.mit.edu	37	14	47504483	47504483	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47504483T>A	uc001wwj.3	-	c.1343A>T	c.(1342-1344)CAG>CTG	p.Q448L	MDGA2_uc001wwi.3_Missense_Mutation_p.Q219L|MDGA2_uc010ani.2_Splice_Site_SNP_p.E9_splice	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	448	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.198582	68.918119	80.844046	28	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47504483	47504483	9796	14	T	A	A	A	715	55	MDGA2	3	3
L2HGDH	79944	broad.mit.edu	37	14	50750751	50750752	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50750751_50750752CC>AA	uc001wxu.2	-	c.541_splice	c.e5-1	p.G181_splice	L2HGDH_uc010tqn.1_Splice_Site_DNP_p.G181_splice|L2HGDH_uc010tqo.1_Splice_Site_DNP_p.G181_splice	NM_024884	NP_079160			L-2-hydroxyglutarate dehydrogenase precursor						2-oxoglutarate metabolic process|cellular protein metabolic process|oxidation-reduction process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)													0.171717	35.109944	45.19636	17	82	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	50750751	50750752	8913	14	CC	AA	AA	AA	286	22	L2HGDH	5	2
WDHD1	11169	broad.mit.edu	37	14	55475401	55475401	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55475401G>T	uc001xbm.1	-	c.378C>A	c.(376-378)AGC>AGA	p.S126R	WDHD1_uc001xbn.1_Missense_Mutation_p.S3R	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	126	WD 3.					cytoplasm|nucleoplasm	DNA binding				0										606				0.342593	102.435803	104.802988	37	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55475401	55475401	17844	14	G	T	T	T	594	46	WDHD1	2	2
TMEM229B	161145	broad.mit.edu	37	14	67940629	67940629	+	Silent	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:67940629G>C	uc001xjk.2	-	c.12C>G	c.(10-12)GCC>GCG	p.A4A	TMEM229B_uc001xjj.1_Non-coding_Transcript	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	4	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1														0.5	10.897606	10.897606	4	4	KEEP	---	---	---	---	capture		Silent	SNP	67940629	67940629	16685	14	G	C	C	C	496	39	TMEM229B	3	3
ACTN1	87	broad.mit.edu	37	14	69346732	69346732	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69346732T>A	uc001xkm.2	-	c.2227A>T	c.(2227-2229)ATC>TTC	p.I743F	ACTN1_uc001xkk.2_Missense_Mutation_p.I339F|ACTN1_uc010ttb.1_Missense_Mutation_p.I678F|ACTN1_uc001xkl.2_Missense_Mutation_p.I743F|ACTN1_uc001xkn.2_Missense_Mutation_p.I743F|ACTN1_uc010ttc.1_Missense_Mutation_p.I328F	NM_001130004	NP_001123476	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform a	743					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)										0.223214	64.528434	72.408861	25	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69346732	69346732	205	14	T	A	A	A	663	51	ACTN1	3	3
LTBP2	4053	broad.mit.edu	37	14	75078484	75078484	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75078484C>A	uc001xqa.2	-	c.164G>T	c.(163-165)CGC>CTC	p.R55L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	55					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)										0.461538	14.943315	14.960503	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75078484	75078484	9450	14	C	A	A	A	351	27	LTBP2	1	1
MOAP1	64112	broad.mit.edu	37	14	93649561	93649561	+	Nonsense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93649561G>A	uc001ybj.2	-	c.1027C>T	c.(1027-1029)CAG>TAG	p.Q343*	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	343					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			ovary(1)	1		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)										0.42268	116.551396	117.05885	41	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	93649561	93649561	10071	14	G	A	A	A	611	47	MOAP1	5	2
ATP10A	57194	broad.mit.edu	37	15	25936908	25936908	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:25936908T>A	uc010ayu.2	-	c.3119A>T	c.(3118-3120)CAG>CTG	p.Q1040L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1040	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)						877				0.5375	285.157906	285.353347	86	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25936908	25936908	1135	15	T	A	A	A	715	55	ATP10A	3	3
MTMR15	22909	broad.mit.edu	37	15	31222813	31222813	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31222813G>A	uc001zff.2	+	c.2855G>A	c.(2854-2856)CGA>CAA	p.R952Q	MTMR15_uc001zfe.2_Missense_Mutation_p.R557Q	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	952	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)										0.045977	-11.471752	7.669233	4	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31222813	31222813	10336	15	G	A	A	A	481	37	MTMR15	1	1
RYR3	6263	broad.mit.edu	37	15	33936616	33936616	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33936616G>T	uc001zhi.2	+	c.3661G>T	c.(3661-3663)GGC>TGC	p.G1221C	RYR3_uc010bar.2_Missense_Mutation_p.G1221C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1221	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.321429	22.362633	23.157033	9	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33936616	33936616	14250	15	G	T	T	T	559	43	RYR3	2	2
RYR3	6263	broad.mit.edu	37	15	34016338	34016338	+	Silent	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34016338C>G	uc001zhi.2	+	c.6873C>G	c.(6871-6873)GCC>GCG	p.A2291A	RYR3_uc010bar.2_Silent_p.A2291A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2291	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.375	19.545894	19.765466	6	10	KEEP	---	---	---	---	capture		Silent	SNP	34016338	34016338	14250	15	C	G	G	G	275	22	RYR3	3	3
MGA	23269	broad.mit.edu	37	15	42032402	42032402	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42032402G>T	uc010ucy.1	+	c.4585_splice	c.e14+1	p.A1529_splice	MGA_uc010ucz.1_Splice_Site_SNP_p.E1529_splice|MGA_uc010uda.1_Splice_Site_SNP_p.A145_splice	NM_001164273	NP_001157745			MAX-interacting protein isoform 1						regulation of transcription, DNA-dependent	MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|skin(1)	11		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)						606				0.435897	53.369486	53.509179	17	22	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42032402	42032402	9930	15	G	T	T	T	572	44	MGA	5	2
ZNF609	23060	broad.mit.edu	37	15	64966474	64966474	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:64966474C>T	uc002ann.2	+	c.1421C>T	c.(1420-1422)CCC>CTC	p.P474L		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	474						nucleus	zinc ion binding			ovary(1)	1														0.491228	86.690091	86.694079	28	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64966474	64966474	18630	15	C	T	T	T	286	22	ZNF609	2	2
CLN6	54982	broad.mit.edu	37	15	68504182	68504182	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:68504182C>A	uc010ujz.1	-	c.413G>T	c.(412-414)CGC>CTC	p.R138L	CLN6_uc002arf.2_Missense_Mutation_p.R106L|CLN6_uc010ujy.1_Intron	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	106					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0														0.457831	121.740092	121.867499	38	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68504182	68504182	3683	15	C	A	A	A	351	27	CLN6	1	1
UACA	55075	broad.mit.edu	37	15	70959250	70959250	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:70959250C>G	uc002asr.2	-	c.3773G>C	c.(3772-3774)TGT>TCT	p.C1258S	UACA_uc010uke.1_Missense_Mutation_p.C1149S|UACA_uc002asq.2_Missense_Mutation_p.C1245S|UACA_uc010bin.1_Missense_Mutation_p.C1233S	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1258	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)	3														0.412791	258.206507	259.34582	71	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70959250	70959250	17381	15	C	G	G	G	221	17	UACA	3	3
CYP1A1	1543	broad.mit.edu	37	15	75013543	75013543	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75013543T>C	uc002ayp.3	-	c.1163A>G	c.(1162-1164)CAC>CGC	p.H388R	CYP1A1_uc010bjv.2_Non-coding_Transcript|CYP1A1_uc010bjw.2_Non-coding_Transcript|CYP1A1_uc010bju.2_Missense_Mutation_p.H124R|CYP1A1_uc010bjx.2_Missense_Mutation_p.H124R|CYP1A1_uc002ayq.3_Missense_Mutation_p.H388R|CYP1A1_uc010bjy.2_Missense_Mutation_p.H388R|CYP1A1_uc010bjz.1_Missense_Mutation_p.H124R	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	388					cellular lipid metabolic process|drug metabolic process|oxidation-reduction process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			breast(2)|ovary(1)|pancreas(1)	4					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)									0.545455	161.002012	161.160135	48	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75013543	75013543	4314	15	T	C	C	C	767	59	CYP1A1	4	4
AGPHD1	123688	broad.mit.edu	37	15	78807396	78807396	+	Nonsense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:78807396C>T	uc010unc.1	+	c.424C>T	c.(424-426)CAG>TAG	p.Q142*	AGPHD1_uc002bdt.2_Nonsense_Mutation_p.Q142*|AGPHD1_uc010ble.2_Nonsense_Mutation_p.Q142*	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	aminoglycoside phosphotransferase domain	142						cytoplasm	kinase activity				0														0.510204	79.172191	79.176538	25	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	78807396	78807396	396	15	C	T	T	T	273	21	AGPHD1	5	2
ADAMTS7	11173	broad.mit.edu	37	15	79051880	79051880	+	Silent	SNP	C	T	T	rs1045121		TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79051880C>T	uc002bej.3	-	c.4944G>A	c.(4942-4944)ACG>ACA	p.T1648T		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1648	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.2	6.117707	7.372661	3	12	KEEP	---	---	---	---	capture		Silent	SNP	79051880	79051880	272	15	C	T	T	T	340	27	ADAMTS7	1	1
AP3B2	8120	broad.mit.edu	37	15	83333147	83333147	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83333147C>G	uc010uoi.1	-	c.2233G>C	c.(2233-2235)GAT>CAT	p.D745H	AP3B2_uc010uoh.1_Missense_Mutation_p.D726H|AP3B2_uc010uoj.1_Missense_Mutation_p.D694H|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.D362H|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	726	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.2	30.49247	35.096353	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83333147	83333147	755	15	C	G	G	G	390	30	AP3B2	3	3
SSTR5	6755	broad.mit.edu	37	16	1129274	1129274	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1129274G>T	uc002ckq.2	+	c.406G>T	c.(406-408)GAC>TAC	p.D136Y	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	136	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity				0		Hepatocellular(780;0.00369)			Octreotide(DB00104)									0.262295	37.22138	40.309139	16	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1129274	1129274	15717	16	G	T	T	T	533	41	SSTR5	2	2
BAIAP3	8938	broad.mit.edu	37	16	1398189	1398189	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1398189G>T	uc002clk.1	+	c.3347G>T	c.(3346-3348)GGG>GTG	p.G1116V	BAIAP3_uc002clj.2_Missense_Mutation_p.G1098V|BAIAP3_uc010uuz.1_Missense_Mutation_p.G1081V|BAIAP3_uc010uva.1_Missense_Mutation_p.G1053V|BAIAP3_uc010uvc.1_Missense_Mutation_p.G1045V	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1116	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)												0.324324	32.089593	33.101812	12	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1398189	1398189	1325	16	G	T	T	T	559	43	BAIAP3	2	2
SMG1	23049	broad.mit.edu	37	16	18908270	18908270	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18908270C>G	uc002dfm.2	-	c.101G>C	c.(100-102)AGT>ACT	p.S34T	SMG1_uc010bwb.2_5'UTR	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	34					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.428571	11.024152	11.055271	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18908270	18908270	15293	16	C	G	G	G	260	20	SMG1	3	3
UMOD	7369	broad.mit.edu	37	16	20359896	20359896	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20359896C>T	uc002dhb.2	-	c.826G>A	c.(826-828)GTG>ATG	p.V276M	UMOD_uc002dgz.2_Missense_Mutation_p.V243M|UMOD_uc002dha.2_Missense_Mutation_p.V243M	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	243					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.666667	25.40344	25.698732	8	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20359896	20359896	17537	16	C	T	T	T	247	19	UMOD	1	1
SRRM2	23524	broad.mit.edu	37	16	2812488	2812488	+	Silent	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2812488T>C	uc002crk.2	+	c.1959T>C	c.(1957-1959)GCT>GCC	p.A653A	SRRM2_uc002crj.1_Silent_p.A557A|SRRM2_uc002crl.1_Silent_p.A653A|SRRM2_uc010bsu.1_Silent_p.A557A	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	653	Arg-rich.|Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.206107	70.085755	80.551779	27	104	KEEP	---	---	---	---	capture		Silent	SNP	2812488	2812488	15683	16	T	C	C	C	678	53	SRRM2	4	4
XPO6	23214	broad.mit.edu	37	16	28137079	28137079	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28137079C>A	uc002dpa.1	-	c.1697G>T	c.(1696-1698)CGC>CTC	p.R566L	XPO6_uc002dpb.1_Missense_Mutation_p.R552L|XPO6_uc010vcp.1_Missense_Mutation_p.R566L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	566					protein export from nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			ovary(1)|skin(1)	2														0.361991	227.331968	231.038854	80	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28137079	28137079	18031	16	C	A	A	A	351	27	XPO6	1	1
QPRT	23475	broad.mit.edu	37	16	29708382	29708382	+	Silent	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29708382G>C	uc002dto.2	+	c.615G>C	c.(613-615)CTG>CTC	p.L205L	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_Non-coding_Transcript	NM_014298	NP_055113	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	205					protein oligomerization|quinolinate catabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity				0					Niacin(DB00627)									0.222222	10.891061	12.168166	4	14	KEEP	---	---	---	---	capture		Silent	SNP	29708382	29708382	13334	16	G	C	C	C	587	46	QPRT	3	3
PRR14	78994	broad.mit.edu	37	16	30666091	30666091	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30666091C>T	uc002dyy.2	+	c.800C>T	c.(799-801)CCC>CTC	p.P267L	PRR14_uc002dyz.2_Missense_Mutation_p.P112L|PRR14_uc002dza.2_Missense_Mutation_p.P267L|PRR14_uc002dzb.1_Missense_Mutation_p.P81L	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	267	Pro-rich.										0			Colorectal(24;0.103)											0.351351	34.450667	35.177507	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30666091	30666091	13029	16	C	T	T	T	286	22	PRR14	2	2
ZNF668	79759	broad.mit.edu	37	16	31072581	31072581	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31072581C>A	uc010caf.2	-	c.1668G>T	c.(1666-1668)CGG>CGT	p.R556R	ZNF668_uc002eao.2_Silent_p.R556R	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	556	C2H2-type 15.		R -> Q (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						Colon(181;1111 1980 5060 10512 25785)				49				0.355372	112.291498	114.52079	43	78	KEEP	---	---	---	---	capture		Silent	SNP	31072581	31072581	18670	16	C	A	A	A	275	22	ZNF668	2	2
NLRC3	197358	broad.mit.edu	37	16	3613765	3613765	+	Silent	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3613765A>G	uc010btn.2	-	c.1173T>C	c.(1171-1173)CAT>CAC	p.H391H		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	391	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6														0.269231	19.415246	20.663567	7	19	KEEP	---	---	---	---	capture		Silent	SNP	3613765	3613765	10871	16	A	G	G	G	102	8	NLRC3	4	4
PHKB	5257	broad.mit.edu	37	16	47581459	47581459	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:47581459G>C	uc002eev.3	+	c.710G>C	c.(709-711)AGC>ACC	p.S237T	PHKB_uc010vgi.1_3'UTR|PHKB_uc002eeu.3_Missense_Mutation_p.S230T	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	237					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)												0.223214	57.562813	65.420919	25	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47581459	47581459	12269	16	G	C	C	C	455	35	PHKB	3	3
ADCY7	113	broad.mit.edu	37	16	50325758	50325758	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50325758G>T	uc002egd.1	+	c.487G>T	c.(487-489)GGT>TGT	p.G163C	ADCY7_uc002egb.1_Missense_Mutation_p.G163C|ADCY7_uc002egc.1_Missense_Mutation_p.G163C	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	163	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding				0		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)									0.390625	76.764865	77.434031	25	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50325758	50325758	300	16	G	T	T	T	507	39	ADCY7	1	1
FAM65A	79567	broad.mit.edu	37	16	67574538	67574538	+	Silent	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67574538T>C	uc010vjp.1	+	c.792T>C	c.(790-792)AGT>AGC	p.S264S	FAM65A_uc010cei.1_Silent_p.S86S|FAM65A_uc002eth.2_Silent_p.S244S|FAM65A_uc010cej.2_Silent_p.S247S|FAM65A_uc002eti.1_Silent_p.S207S|FAM65A_uc010vjq.1_Silent_p.S258S|FAM65A_uc002etj.1_Silent_p.S243S|FAM65A_uc002etk.2_Silent_p.S243S	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	248						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)										0.388889	210.602743	212.549959	70	110	KEEP	---	---	---	---	capture		Silent	SNP	67574538	67574538	5822	16	T	C	C	C	764	59	FAM65A	4	4
PHLPP2	23035	broad.mit.edu	37	16	71715787	71715787	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71715787T>A	uc002fax.2	-	c.757A>T	c.(757-759)ACC>TCC	p.T253S	PHLPP2_uc002fav.2_Non-coding_Transcript|PHLPP2_uc010cgf.2_Missense_Mutation_p.T253S|PHLPP2_uc002fay.1_Missense_Mutation_p.T253S	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	253	LRR 1.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)	1														0.144068	28.70229	43.089397	17	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71715787	71715787	12279	16	T	A	A	A	741	57	PHLPP2	3	3
WDR59	79726	broad.mit.edu	37	16	74927609	74927609	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74927609C>A	uc002fdh.1	-	c.1968G>T	c.(1966-1968)CTG>CTT	p.L656L	WDR59_uc002fdf.1_Silent_p.L101L|WDR59_uc002fdg.1_Silent_p.L248L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	656										ovary(1)|breast(1)	2														0.378641	112.796774	114.129035	39	64	KEEP	---	---	---	---	capture		Silent	SNP	74927609	74927609	17881	16	C	A	A	A	314	25	WDR59	2	2
CNTNAP4	85445	broad.mit.edu	37	16	76481991	76481991	+	Silent	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76481991T>A	uc002fex.1	+	c.630T>A	c.(628-630)ATT>ATA	p.I210I	CNTNAP4_uc002feu.1_Silent_p.I207I|CNTNAP4_uc002fev.1_Silent_p.I119I|CNTNAP4_uc010chb.1_Silent_p.I182I|CNTNAP4_uc002few.2_Silent_p.I182I	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	207	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.372093	86.315904	87.574033	32	54	KEEP	---	---	---	---	capture		Silent	SNP	76481991	76481991	3787	16	T	A	A	A	783	61	CNTNAP4	3	3
ADAMTS18	170692	broad.mit.edu	37	16	77398154	77398154	+	Silent	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77398154T>A	uc002ffc.3	-	c.903A>T	c.(901-903)GCA>GCT	p.A301A	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	301	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.285	156.202226	164.494309	57	143	KEEP	---	---	---	---	capture		Silent	SNP	77398154	77398154	264	16	T	A	A	A	704	55	ADAMTS18	3	3
GRIN2A	2903	broad.mit.edu	37	16	9923360	9923360	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9923360C>A	uc002czo.3	-	c.1927G>T	c.(1927-1929)GCT>TCT	p.A643S	GRIN2A_uc010uym.1_Missense_Mutation_p.A643S|GRIN2A_uc010uyn.1_Missense_Mutation_p.A486S|GRIN2A_uc002czr.3_Missense_Mutation_p.A643S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	643	Helical; (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.394366	77.876757	78.572425	28	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9923360	9923360	7058	16	C	A	A	A	338	26	GRIN2A	2	2
DNAH9	1770	broad.mit.edu	37	17	11622804	11622804	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11622804C>A	uc002gne.2	+	c.5706C>A	c.(5704-5706)TAC>TAA	p.Y1902*	DNAH9_uc010coo.2_Nonsense_Mutation_p.Y1196*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1902	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.096774	6.803217	21.957284	9	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11622804	11622804	4791	17	C	A	A	A	220	17	DNAH9	5	2
CDRT15	146822	broad.mit.edu	37	17	14140072	14140072	+	Nonsense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:14140072G>A	uc010vvu.1	-	c.79C>T	c.(79-81)CGA>TGA	p.R27*	CDRT15_uc010coq.2_Non-coding_Transcript	NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	27											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)										0.423077	66.84246	67.110562	22	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	14140072	14140072	3304	17	G	A	A	A	506	39	CDRT15	5	1
LRRC37B	114659	broad.mit.edu	37	17	30377039	30377039	+	Silent	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30377039A>G	uc002hgu.2	+	c.2694A>G	c.(2692-2694)CCA>CCG	p.P898P	LRRC37B_uc010wbx.1_Silent_p.P816P|LRRC37B_uc010csu.2_Silent_p.P847P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	898	Extracellular (Potential).					integral to membrane				ovary(1)	1		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)												0.329268	78.196851	80.315926	27	55	KEEP	---	---	---	---	capture		Silent	SNP	30377039	30377039	9369	17	A	G	G	G	80	7	LRRC37B	4	4
UNC45B	146862	broad.mit.edu	37	17	33481607	33481607	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33481607C>A	uc002hja.2	+	c.486C>A	c.(484-486)CTC>CTA	p.L162L	UNC45B_uc002hjb.2_Silent_p.L162L|UNC45B_uc002hjc.2_Silent_p.L162L|UNC45B_uc010cto.2_Silent_p.L162L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	162					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.239437	39.135441	43.53956	17	54	KEEP	---	---	---	---	capture		Silent	SNP	33481607	33481607	17547	17	C	A	A	A	366	29	UNC45B	2	2
UNC45B	146862	broad.mit.edu	37	17	33495370	33495370	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33495370G>T	uc002hja.2	+	c.1442G>T	c.(1441-1443)CGC>CTC	p.R481L	UNC45B_uc002hjb.2_Missense_Mutation_p.R481L|UNC45B_uc002hjc.2_Missense_Mutation_p.R481L|UNC45B_uc010cto.2_Missense_Mutation_p.R481L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	481					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.378378	41.138033	41.619291	14	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33495370	33495370	17547	17	G	T	T	T	494	38	UNC45B	1	1
CCL3	6348	broad.mit.edu	37	17	34416536	34416536	+	Missense_Mutation	SNP	C	T	T	rs1130374		TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34416536C>T	uc002hkv.2	-	c.181G>A	c.(181-183)GGT>AGT	p.G61S		NM_002983	NP_002974	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	61					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)					p.G61S(SNUC2A-Tumor)|p.G61S(KYSE520-Tumor)	50				0.26087	84.295387	90.248538	30	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34416536	34416536	3026	17	C	T	T	T	299	23	CCL3	1	1
ZZEF1	23140	broad.mit.edu	37	17	3961350	3961350	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3961350C>A	uc002fxe.2	-	c.5103G>T	c.(5101-5103)CAG>CAT	p.Q1701H	ZZEF1_uc002fxh.2_Missense_Mutation_p.Q15H|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.Q314H	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1701					regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	calcium ion binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.517241	93.948925	93.963765	30	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3961350	3961350	18861	17	C	A	A	A	259	20	ZZEF1	2	2
NT5C3L	115024	broad.mit.edu	37	17	39987052	39987052	+	Splice_Site_SNP	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39987052C>A	uc002hyc.3	-	c.506_splice	c.e6+1	p.R169_splice	NT5C3L_uc002hxx.3_Splice_Site_SNP_p.R34_splice|NT5C3L_uc010wfu.1_Splice_Site_SNP_p.R34_splice|NT5C3L_uc002hyb.3_Splice_Site_SNP_p.R92_splice|NT5C3L_uc002hyd.3_Splice_Site_SNP_p.R92_splice|NT5C3L_uc002hxy.3_Splice_Site_SNP_p.R127_splice|NT5C3L_uc002hxz.3_Splice_Site_SNP_p.R92_splice|NT5C3L_uc002hya.3_Splice_Site_SNP_p.R127_splice	NM_052935	NP_443167			5'-nucleotidase, cytosolic III-like							cytoplasm	5'-nucleotidase activity|magnesium ion binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)										0.040541	-21.084257	12.565982	6	142	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	39987052	39987052	11094	17	C	A	A	A	234	18	NT5C3L	5	2
PLEKHM1	9842	broad.mit.edu	37	17	43552535	43552535	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43552535T>A	uc002ija.2	-	c.854A>T	c.(853-855)GAG>GTG	p.E285V	PLEKHM1_uc010wjm.1_Missense_Mutation_p.E257V|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E234V	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	285					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)													0.28	50.652717	53.911371	21	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43552535	43552535	12506	17	T	A	A	A	702	54	PLEKHM1	3	3
KIAA1267	284058	broad.mit.edu	37	17	44108914	44108914	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44108914C>A	uc002ikb.2	-	c.3246G>T	c.(3244-3246)TCG>TCT	p.S1082S	KIAA1267_uc002ikc.2_Silent_p.S1082S|KIAA1267_uc002ikd.2_Silent_p.S1082S|KIAA1267_uc010dav.2_Silent_p.S1081S|KIAA1267_uc010wkb.1_Silent_p.S413S|KIAA1267_uc010wkc.1_Silent_p.S350S	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	1082						MLL1 complex	protein binding				0		Melanoma(429;0.211)												0.421053	22.924612	23.02035	8	11	KEEP	---	---	---	---	capture		Silent	SNP	44108914	44108914	8528	17	C	A	A	A	340	27	KIAA1267	1	1
MYBBP1A	10514	broad.mit.edu	37	17	4446447	4446447	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4446447G>A	uc002fxz.3	-	c.2653C>T	c.(2653-2655)CGT>TGT	p.R885C	MYBBP1A_uc002fyb.3_Missense_Mutation_p.R885C|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 1	885					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2														0.481481	40.172218	40.180292	13	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4446447	4446447	10403	17	G	A	A	A	507	39	MYBBP1A	1	1
HOXB8	3218	broad.mit.edu	37	17	46691934	46691934	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46691934C>A	uc002inw.2	-	c.133G>T	c.(133-135)GGC>TGC	p.G45C		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	45					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.230769	7.118314	7.982074	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46691934	46691934	7599	17	C	A	A	A	299	23	HOXB8	1	1
IGF2BP1	10642	broad.mit.edu	37	17	47120887	47120887	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47120887G>A	uc002iom.2	+	c.1175G>A	c.(1174-1176)GGG>GAG	p.G392E	IGF2BP1_uc010dbj.2_Missense_Mutation_p.G253E	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	392	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.357143	58.381788	59.389505	20	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47120887	47120887	7874	17	G	A	A	A	559	43	IGF2BP1	2	2
MPO	4353	broad.mit.edu	37	17	56355316	56355316	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56355316T>A	uc002ivu.1	-	c.1076A>T	c.(1075-1077)CAG>CTG	p.Q359L		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	359					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling|oxidation-reduction process	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)									0.380282	73.090761	73.988536	27	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56355316	56355316	10124	17	T	A	A	A	715	55	MPO	3	3
CLTC	1213	broad.mit.edu	37	17	57724917	57724917	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57724917C>G	uc002ixr.1	+	c.421C>G	c.(421-423)CAG>GAG	p.Q141E	CLTC_uc002ixp.2_Missense_Mutation_p.Q137E|CLTC_uc002ixq.1_Missense_Mutation_p.Q137E	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	137	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)									397				0.304147	208.063191	215.493043	66	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57724917	57724917	3704	17	C	G	G	G	377	29	CLTC	3	3
ACE	1636	broad.mit.edu	37	17	61562712	61562712	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61562712C>T	uc002jau.1	+	c.2037C>T	c.(2035-2037)ACC>ACT	p.T679T	ACE_uc010ddu.1_Silent_p.T496T|ACE_uc002jav.1_Silent_p.T105T|ACE_uc010ddv.1_5'UTR|ACE_uc010wpj.1_Silent_p.T105T|ACE_uc002jaw.1_Non-coding_Transcript|ACE_uc010wpk.1_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	679	Extracellular (Potential).|Peptidase M2 2.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)									0.222222	26.051333	29.912359	12	42	KEEP	---	---	---	---	capture		Silent	SNP	61562712	61562712	137	17	C	T	T	T	262	21	ACE	2	2
C17orf77	146723	broad.mit.edu	37	17	72588362	72588362	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72588362C>T	uc002jla.1	+	c.177C>T	c.(175-177)CTC>CTT	p.L59L	CD300LD_uc002jkz.2_5'UTR	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	59						extracellular region					0														0.363636	89.783643	91.219852	32	56	KEEP	---	---	---	---	capture		Silent	SNP	72588362	72588362	1940	17	C	T	T	T	379	30	C17orf77	2	2
EVPL	2125	broad.mit.edu	37	17	74023232	74023232	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74023232C>A	uc010wss.1	-	c.48G>T	c.(46-48)AAG>AAT	p.K16N	EVPL_uc002jqi.2_Missense_Mutation_p.K16N|EVPL_uc010wst.1_De_novo_Start_InFrame	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	16	4 X 4 AA tandem repeats of K-G-S-P.|Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.5	17.248613	17.248613	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74023232	74023232	5485	17	C	A	A	A	311	24	EVPL	2	2
CARD14	79092	broad.mit.edu	37	17	78163574	78163574	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78163574A>G	uc002jxw.1	+	c.866A>G	c.(865-867)CAG>CGG	p.Q289R	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.2_Missense_Mutation_p.Q289R|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.2_Missense_Mutation_p.Q52R|CARD14_uc010dhu.1_Missense_Mutation_p.Q87R	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	289	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)							565				0.315789	31.88656	33.033416	12	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78163574	78163574	2765	17	A	G	G	G	91	7	CARD14	4	4
RPTOR	57521	broad.mit.edu	37	17	78897445	78897445	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78897445G>T	uc002jyt.1	+	c.2780G>T	c.(2779-2781)CGG>CTG	p.R927L	RPTOR_uc010wug.1_Missense_Mutation_p.R769L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	927					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)	5										1368				0.388889	20.021324	20.215845	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78897445	78897445	14145	17	G	T	T	T	507	39	RPTOR	1	1
ARHGEF15	22899	broad.mit.edu	37	17	8221893	8221893	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8221893C>A	uc002glc.2	+	c.1785C>A	c.(1783-1785)ATC>ATA	p.I595I	ARHGEF15_uc002gld.2_Silent_p.I595I|ARHGEF15_uc010vuw.1_Silent_p.I484I	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	595	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2														0.204545	21.34997	24.913954	9	35	KEEP	---	---	---	---	capture		Silent	SNP	8221893	8221893	912	17	C	A	A	A	395	31	ARHGEF15	1	1
CEP192	55125	broad.mit.edu	37	18	13073170	13073171	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13073170_13073171GG>TT	uc010xac.1	+	c.5602_5603GG>TT	c.(5602-5604)GGC>TTC	p.G1868F	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.1_Missense_Mutation_p.G1393F|CEP192_uc002kru.2_Non-coding_Transcript|CEP192_uc002krv.2_Missense_Mutation_p.G290F|CEP192_uc002krw.2_Missense_Mutation_p.G17F|CEP192_uc002krx.2_5'UTR	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1868										ovary(4)|pancreas(1)	5														0.271605	180.040465	191.472883	66	177	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	13073170	13073171	3384	18	GG	TT	TT	TT	455	35	CEP192	2	2
MIB1	57534	broad.mit.edu	37	18	19424150	19424150	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:19424150G>T	uc002ktq.2	+	c.2147G>T	c.(2146-2148)CGT>CTT	p.R716L	MIB1_uc002ktp.2_Missense_Mutation_p.R355L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	716	ANK 9.				Notch signaling pathway	nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)											0.41	133.18459	133.883899	41	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19424150	19424150	9956	18	G	T	T	T	520	40	MIB1	1	1
HRH4	59340	broad.mit.edu	37	18	22056939	22056939	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22056939A>T	uc002kvi.2	+	c.586A>T	c.(586-588)AAT>TAT	p.N196Y	HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.N108Y	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	196	Cytoplasmic (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)									0.154506	53.750671	80.343419	36	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22056939	22056939	7650	18	A	T	T	T	117	9	HRH4	3	3
CDH2	1000	broad.mit.edu	37	18	25532157	25532157	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25532157A>G	uc002kwg.2	-	c.2681T>C	c.(2680-2682)TTC>TCC	p.F894S	CDH2_uc010xbn.1_Missense_Mutation_p.F863S	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	894	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.356481	249.781865	253.714469	77	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25532157	25532157	3234	18	A	G	G	G	117	9	CDH2	4	4
DSC1	1823	broad.mit.edu	37	18	28713983	28713983	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28713983T>A	uc002kwn.2	-	c.1987A>T	c.(1987-1989)AGA>TGA	p.R663*	DSC1_uc002kwm.2_Nonsense_Mutation_p.R663*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	663	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(10;0.00778)											0.268293	193.537753	207.454218	77	210	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28713983	28713983	4949	18	T	A	A	A	700	54	DSC1	5	3
DSG1	1828	broad.mit.edu	37	18	28911745	28911745	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28911745G>T	uc002kwp.2	+	c.599G>T	c.(598-600)AGA>ATA	p.R200I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	200	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.254237	72.687107	79.160042	30	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28911745	28911745	4960	18	G	T	T	T	429	33	DSG1	2	2
SYT4	6860	broad.mit.edu	37	18	40853678	40853678	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40853678T>A	uc002law.2	-	c.716A>T	c.(715-717)CAC>CTC	p.H239L	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.H221L|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	239	Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.333333	138.485281	141.950329	47	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40853678	40853678	15997	18	T	A	A	A	767	59	SYT4	3	3
SYT4	6860	broad.mit.edu	37	18	40853766	40853766	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40853766C>A	uc002law.2	-	c.628G>T	c.(628-630)GTG>TTG	p.V210L	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.V192L|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	210	Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.375796	176.504748	178.623449	59	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40853766	40853766	15997	18	C	A	A	A	260	20	SYT4	2	2
SYT4	6860	broad.mit.edu	37	18	40854165	40854165	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40854165C>A	uc002law.2	-	c.229G>T	c.(229-231)GAT>TAT	p.D77Y	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.D59Y|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	77	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.198413	53.595093	64.269806	25	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40854165	40854165	15997	18	C	A	A	A	377	29	SYT4	2	2
EPB41L3	23136	broad.mit.edu	37	18	5397212	5397212	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5397212C>A	uc002kmt.1	-	c.2686G>T	c.(2686-2688)GCC>TCC	p.A896S	EPB41L3_uc010wzh.1_Missense_Mutation_p.A727S|EPB41L3_uc002kmu.1_Missense_Mutation_p.A674S|EPB41L3_uc010dkq.1_Missense_Mutation_p.A565S|EPB41L3_uc002kms.1_Missense_Mutation_p.A131S|EPB41L3_uc010wze.1_Missense_Mutation_p.A201S|EPB41L3_uc010wzf.1_Missense_Mutation_p.A193S|EPB41L3_uc010wzg.1_Missense_Mutation_p.A168S|EPB41L3_uc010dkr.2_Missense_Mutation_p.A288S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	896	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.233918	95.808779	106.891162	40	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5397212	5397212	5347	18	C	A	A	A	325	25	EPB41L3	2	2
SERPINB4	6318	broad.mit.edu	37	18	61328038	61328038	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61328038T>C	uc002ljg.2	-	c.218A>G	c.(217-219)TAT>TGT	p.Y73C	SERPINB3_uc002lji.2_Missense_Mutation_p.Y73C|SERPINB3_uc010dqa.2_Missense_Mutation_p.Y73C|SERPINB3_uc010dqb.2_Missense_Mutation_p.Y73C|SERPINB3_uc010dqc.2_Missense_Mutation_p.Y73C	SERPINB4		P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	73					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.357143	87.061699	88.317373	25	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61328038	61328038	14591	18	T	C	C	C	637	49	SERPINB4	4	4
SERPINB8	5271	broad.mit.edu	37	18	61652456	61652456	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61652456G>T	uc002ljv.2	+	c.697G>T	c.(697-699)GAT>TAT	p.D233Y	SERPINB8_uc002ljt.2_Missense_Mutation_p.D233Y|SERPINB8_uc002lju.2_Missense_Mutation_p.D233Y|SERPINB8_uc010xex.1_Missense_Mutation_p.D51Y	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	233					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)												0.378378	74.876036	75.838485	28	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61652456	61652456	14595	18	G	T	T	T	481	37	SERPINB8	1	1
DSEL	92126	broad.mit.edu	37	18	65179982	65179982	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:65179982C>G	uc002lke.1	-	c.1894G>C	c.(1894-1896)GGT>CGT	p.G632R		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	622						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5		Esophageal squamous(42;0.129)												0.258427	62.979106	67.687864	23	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65179982	65179982	4959	18	C	G	G	G	273	21	DSEL	3	3
NFATC1	4772	broad.mit.edu	37	18	77171101	77171101	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77171101C>G	uc010xfg.1	+	c.826C>G	c.(826-828)CCC>GCC	p.P276A	NFATC1_uc002lnc.1_Missense_Mutation_p.P276A|NFATC1_uc010xff.1_Missense_Mutation_p.P276A|NFATC1_uc002lnd.2_Missense_Mutation_p.P276A|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.P276A|NFATC1_uc010xfi.1_Missense_Mutation_p.P263A|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.P263A|NFATC1_uc002lng.2_Missense_Mutation_p.P263A|NFATC1_uc010xfk.1_Missense_Mutation_p.P263A	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	276	3 X SP repeats.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GBM(151;1210 2593 28719 45011)				1639				0.333333	24.798932	25.385891	8	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77171101	77171101	10761	18	C	G	G	G	338	26	NFATC1	3	3
ADNP2	22850	broad.mit.edu	37	18	77894491	77894491	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77894491G>C	uc002lnw.2	+	c.1195G>C	c.(1195-1197)GGG>CGG	p.G399R		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	399	Pro-rich.				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)										0.121212	21.49791	40.076499	16	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77894491	77894491	325	18	G	C	C	C	611	47	ADNP2	3	3
KIAA0802	23255	broad.mit.edu	37	18	8825859	8825859	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8825859G>T	uc002knr.2	+	c.4351G>T	c.(4351-4353)GAC>TAC	p.D1451Y	KIAA0802_uc002knq.2_Missense_Mutation_p.D1410Y|KIAA0802_uc002kns.2_Missense_Mutation_p.D791Y	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	1761										ovary(6)|central_nervous_system(1)	7										468				0.148148	11.158254	17.587091	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8825859	8825859	8501	18	G	T	T	T	585	45	KIAA0802	2	2
ILF3	3609	broad.mit.edu	37	19	10790525	10790525	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10790525A>G	uc002mpo.2	+	c.781A>G	c.(781-783)ACG>GCG	p.T261A	ILF3_uc002mpm.2_Missense_Mutation_p.T261A|ILF3_uc002mpl.2_Missense_Mutation_p.T261A|ILF3_uc002mpk.2_Missense_Mutation_p.T261A|ILF3_uc010xli.1_Intron|ILF3_uc002mpn.2_Missense_Mutation_p.T261A|ILF3_uc002mpp.2_Missense_Mutation_p.T82A	NM_017620	NP_060090	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform d	261	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding|transcription activator activity|transcription repressor activity			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)											0.394737	48.622363	48.989065	15	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10790525	10790525	8013	19	A	G	G	G	78	6	ILF3	4	4
LYL1	4066	broad.mit.edu	37	19	13211933	13211933	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13211933G>T	uc002mwi.2	-	c.53C>A	c.(52-54)GCA>GAA	p.A18E		NM_005583	NP_005574	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1	18					B cell differentiation|blood vessel maturation|definitive hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription activator activity				0			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)							10				0.5	10.998046	10.998046	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13211933	13211933	9483	19	G	T	T	T	598	46	LYL1	2	2
ILVBL	10994	broad.mit.edu	37	19	15229989	15229989	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15229989T>C	uc002nam.2	-	c.1039A>G	c.(1039-1041)ATT>GTT	p.I347V	ILVBL_uc010xof.1_5'Flank|ILVBL_uc010dzw.2_Missense_Mutation_p.I240V	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	347						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2														0.270833	67.397473	71.953866	26	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15229989	15229989	8016	19	T	C	C	C	663	51	ILVBL	4	4
ZNF253	56242	broad.mit.edu	37	19	20002661	20002661	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:20002661G>T	uc002noj.2	+	c.605G>T	c.(604-606)TGT>TTT	p.C202F	ZNF253_uc002nok.2_Missense_Mutation_p.C126F|ZNF253_uc002nol.2_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	202	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding				0														0.530612	85.285912	85.329979	26	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20002661	20002661	18388	19	G	T	T	T	624	48	ZNF253	2	2
ZNF257	113835	broad.mit.edu	37	19	22270984	22270984	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22270984G>T	uc010ecx.2	+	c.432G>T	c.(430-432)ATG>ATT	p.M144I	ZNF257_uc010ecy.2_Missense_Mutation_p.M112I	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.5	77.424701	77.424701	23	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22270984	22270984	18391	19	G	T	T	T	624	48	ZNF257	2	2
ZNF676	163223	broad.mit.edu	37	19	22363524	22363524	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22363524G>A	uc002nqs.1	-	c.995C>T	c.(994-996)GCT>GTT	p.A332V		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.067797	-5.103052	17.719474	8	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363524	22363524	18678	19	G	A	A	A	442	34	ZNF676	2	2
ZNF98	148198	broad.mit.edu	37	19	22574549	22574549	+	Silent	SNP	G	C	C	rs74169609		TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22574549G>C	uc002nqt.2	-	c.1488C>G	c.(1486-1488)GGC>GGG	p.G496G		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	496	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)												0.430556	109.794178	110.100339	31	41	KEEP	---	---	---	---	capture		Silent	SNP	22574549	22574549	18807	19	G	C	C	C	587	46	ZNF98	3	3
ANKRD27	84079	broad.mit.edu	37	19	33122400	33122400	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33122400C>A	uc002ntn.1	-	c.1117G>T	c.(1117-1119)GAG>TAG	p.E373*		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	373					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.137)													0.467742	81.762272	81.819017	29	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33122400	33122400	660	19	C	A	A	A	390	30	ANKRD27	5	2
MAG	4099	broad.mit.edu	37	19	35790520	35790520	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35790520T>G	uc002nyy.1	+	c.479T>G	c.(478-480)ATG>AGG	p.M160R	MAG_uc002nyx.1_Missense_Mutation_p.M160R|MAG_uc010eds.1_Missense_Mutation_p.M135R|MAG_uc002nyz.1_Missense_Mutation_p.M160R	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	160	Ig-like C2-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)											0.45	31.974806	32.018033	9	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35790520	35790520	9539	19	T	G	G	G	663	51	MAG	4	4
ZNF793	390927	broad.mit.edu	37	19	38028480	38028480	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38028480G>T	uc010efm.2	+	c.920G>T	c.(919-921)GGA>GTA	p.G307V	ZNF793_uc010xts.1_Missense_Mutation_p.G307V|ZNF793_uc010efo.2_Intron	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			Melanoma(44;400 1431 1499 19093)								0.326531	41.078671	42.388979	16	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38028480	38028480	18763	19	G	T	T	T	533	41	ZNF793	2	2
RYR1	6261	broad.mit.edu	37	19	38939008	38939008	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38939008C>A	uc002oit.2	+	c.814C>A	c.(814-816)CAC>AAC	p.H272N	RYR1_uc002oiu.2_Missense_Mutation_p.H272N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	272	MIR 4.|Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.413043	101.616369	102.226358	38	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38939008	38939008	14248	19	C	A	A	A	273	21	RYR1	2	2
MAP4K1	11184	broad.mit.edu	37	19	39098508	39098508	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39098508C>A	uc002oix.1	-	c.1153G>T	c.(1153-1155)GAC>TAC	p.D385Y	MAP4K1_uc002oiw.1_5'UTR|MAP4K1_uc002oiy.1_Missense_Mutation_p.D385Y|MAP4K1_uc010xug.1_Missense_Mutation_p.D47Y	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	385					activation of JUN kinase activity|activation of MAPKKK activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)	7	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)							518				0.238095	11.163607	12.480273	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39098508	39098508	9642	19	C	A	A	A	390	30	MAP4K1	2	2
C19orf47	126526	broad.mit.edu	37	19	40842091	40842091	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40842091T>A	uc002oni.3	-	c.259A>T	c.(259-261)ATG>TTG	p.M87L	C19orf47_uc002ong.2_5'UTR|C19orf47_uc002onh.2_Missense_Mutation_p.M20L	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	87										ovary(1)	1			Lung(22;0.000636)											0.342857	69.176066	70.704415	24	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40842091	40842091	1994	19	T	A	A	A	676	52	C19orf47	3	3
PSG1	5669	broad.mit.edu	37	19	43383729	43383729	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43383729C>A	uc010eio.1	-	c.5G>T	c.(4-6)GGA>GTA	p.G2V	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.G2V|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Non-coding_Transcript|PSG1_uc002our.1_Missense_Mutation_p.G2V|PSG1_uc002oux.1_5'Flank|PSG1_uc002ouy.1_Missense_Mutation_p.G2V|PSG1_uc002ouz.1_Missense_Mutation_p.G2V|PSG1_uc002ova.1_Missense_Mutation_p.G2V|PSG1_uc002ovb.2_Missense_Mutation_p.G2V|PSG1_uc002ovc.2_Missense_Mutation_p.G2V|PSG1_uc002ovd.1_Missense_Mutation_p.G2V	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	2					female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)												0.437908	188.997599	189.512349	67	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43383729	43383729	13106	19	C	A	A	A	390	30	PSG1	2	2
XRCC1	7515	broad.mit.edu	37	19	44047554	44047554	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44047554G>A	uc002owt.2	-	c.1892C>T	c.(1891-1893)CCG>CTG	p.P631L	XRCC1_uc010xwp.1_Missense_Mutation_p.P600L	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	631					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4		Prostate(69;0.0153)												0.161765	18.28353	25.684759	11	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44047554	44047554	18035	19	G	A	A	A	507	39	XRCC1	1	1
BCAM	4059	broad.mit.edu	37	19	45315594	45315594	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45315594G>T	uc002ozu.2	+	c.379G>T	c.(379-381)GTG>TTG	p.V127L	BCAM_uc002ozt.1_Missense_Mutation_p.V127L	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	127	Extracellular (Potential).|Ig-like V-type 1.				cell-matrix adhesion	external side of plasma membrane|integral to plasma membrane	laminin binding|laminin receptor activity				0	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)												0.323529	30.011554	30.952341	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45315594	45315594	1365	19	G	T	T	T	572	44	BCAM	2	2
TRPM4	54795	broad.mit.edu	37	19	49685943	49685943	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49685943A>T	uc002pmw.2	+	c.1372A>T	c.(1372-1374)ATG>TTG	p.M458L	TRPM4_uc010emu.2_Missense_Mutation_p.M458L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.M284L|TRPM4_uc010emv.2_Missense_Mutation_p.M343L|TRPM4_uc010yal.1_Missense_Mutation_p.M104L|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	458	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)										0.24	45.918634	50.542109	18	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49685943	49685943	17139	19	A	T	T	T	156	12	TRPM4	3	3
POLD1	5424	broad.mit.edu	37	19	50905995	50905995	+	Nonsense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50905995A>T	uc010eny.2	+	c.967A>T	c.(967-969)AAA>TAA	p.K323*	POLD1_uc002psb.3_Nonsense_Mutation_p.K323*|POLD1_uc002psc.3_Nonsense_Mutation_p.K323*|POLD1_uc010enx.2_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	323					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			central_nervous_system(1)	1		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)										0.263158	13.267156	14.230551	5	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50905995	50905995	12618	19	A	T	T	T	65	5	POLD1	5	3
ZNF480	147657	broad.mit.edu	37	19	52825656	52825656	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52825656C>A	uc010ydl.1	+	c.1153C>A	c.(1153-1155)CAC>AAC	p.H385N	ZNF480_uc002pyv.2_Missense_Mutation_p.H308N|ZNF480_uc010ydm.1_Missense_Mutation_p.H342N|ZNF480_uc010epn.2_Missense_Mutation_p.H216N	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	385	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)										0.210526	54.148225	62.978163	24	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52825656	52825656	18529	19	C	A	A	A	325	25	ZNF480	2	2
ZNF534	147658	broad.mit.edu	37	19	52941638	52941638	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52941638G>T	uc002pzk.2	+	c.964G>T	c.(964-966)GTG>TTG	p.V322L	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.V309L	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	322	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.107143	3.003685	7.293295	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52941638	52941638	18567	19	G	T	T	T	624	48	ZNF534	2	2
ZNF415	55786	broad.mit.edu	37	19	53612523	53612523	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53612523G>T	uc010yds.1	-	c.775C>A	c.(775-777)CTT>ATT	p.L259I	ZNF415_uc002qat.2_Missense_Mutation_p.L271I|ZNF415_uc002qaw.2_Missense_Mutation_p.L259I|ZNF415_uc010ydt.1_Missense_Mutation_p.L259I|ZNF415_uc002qau.2_Missense_Mutation_p.L246I|ZNF415_uc002qav.2_Missense_Mutation_p.L271I|ZNF415_uc002qax.2_Missense_Mutation_p.L307I|ZNF415_uc002qba.2_Missense_Mutation_p.L29I|ZNF415_uc002qay.2_Missense_Mutation_p.L246I|ZNF415_uc002qaz.2_Missense_Mutation_p.L307I	NM_001164309	NP_001157781	Q09FC8	ZN415_HUMAN	zinc finger protein 415 isoform 2	307	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)										0.174825	49.084338	63.351683	25	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53612523	53612523	18485	19	G	T	T	T	455	35	ZNF415	2	2
BIRC8	112401	broad.mit.edu	37	19	53793083	53793083	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53793083C>A	uc002qbk.2	-	c.545G>T	c.(544-546)CGT>CTT	p.R182L		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	182					apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)										0.417476	137.610191	138.221554	43	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53793083	53793083	1465	19	C	A	A	A	247	19	BIRC8	1	1
ZNF761	388561	broad.mit.edu	37	19	53958199	53958199	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53958199G>A	uc010eqp.2	+	c.438G>A	c.(436-438)TCG>TCA	p.S146S	ZNF761_uc010ydy.1_Silent_p.S92S|ZNF761_uc002qbt.1_Silent_p.S92S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)										0.102941	10.247616	31.60951	14	122	KEEP	---	---	---	---	capture		Silent	SNP	53958199	53958199	18734	19	G	A	A	A	483	38	ZNF761	1	1
NLRP12	91662	broad.mit.edu	37	19	54304614	54304614	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54304614C>A	uc002qcj.3	-	c.2626G>T	c.(2626-2628)GAG>TAG	p.E876*	NLRP12_uc010eqw.2_Nonsense_Mutation_p.E158*|NLRP12_uc002qch.3_Nonsense_Mutation_p.E875*|NLRP12_uc002qci.3_Nonsense_Mutation_p.E875*|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	875	LRR 2.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.396226	66.168922	66.6667	21	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54304614	54304614	10877	19	C	A	A	A	403	31	NLRP12	5	1
PRPF31	26121	broad.mit.edu	37	19	54629929	54629929	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54629929G>T	uc002qdh.2	+	c.882G>T	c.(880-882)CTG>CTT	p.L294L	PRPF31_uc010yek.1_Silent_p.L294L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	294	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U2-type spliceosomal complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.444444	9.794996	9.819691	4	5	KEEP	---	---	---	---	capture		Silent	SNP	54629929	54629929	13009	19	G	T	T	T	600	47	PRPF31	2	2
LILRB1	10859	broad.mit.edu	37	19	55143453	55143453	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55143453C>A	uc002qgm.2	+	c.426C>A	c.(424-426)ATC>ATA	p.I142I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.2_Silent_p.I142I|LILRB1_uc002qgl.2_Silent_p.I142I|LILRB1_uc002qgk.2_Silent_p.I142I|LILRB1_uc010erq.2_Silent_p.I142I|LILRB1_uc010err.2_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	142	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0188)										0.113208	7.71714	23.382717	12	94	KEEP	---	---	---	---	capture		Silent	SNP	55143453	55143453	9116	19	C	A	A	A	382	30	LILRB1	2	2
LILRB1	10859	broad.mit.edu	37	19	55143930	55143930	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55143930C>A	uc002qgm.2	+	c.677C>A	c.(676-678)CCA>CAA	p.P226Q	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.2_Missense_Mutation_p.P226Q|LILRB1_uc002qgl.2_Missense_Mutation_p.P226Q|LILRB1_uc002qgk.2_Missense_Mutation_p.P226Q|LILRB1_uc010erq.2_Missense_Mutation_p.P226Q|LILRB1_uc010err.2_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	226	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0188)										0.159574	25.659611	36.042772	15	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55143930	55143930	9116	19	C	A	A	A	273	21	LILRB1	2	2
LILRB4	11006	broad.mit.edu	37	19	55175787	55175787	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55175787C>A	uc002qgr.2	+	c.629C>A	c.(628-630)TCA>TAA	p.S210*	LILRB4_uc002qgp.2_Nonsense_Mutation_p.S169*|LILRB4_uc002qgq.2_Nonsense_Mutation_p.S169*|LILRB4_uc010ers.1_Nonsense_Mutation_p.S82*|LILRB4_uc010ert.2_Nonsense_Mutation_p.S210*|LILRB4_uc010eru.2_Nonsense_Mutation_p.S198*	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	169	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)										0.231579	49.692865	55.970733	22	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55175787	55175787	9119	19	C	A	A	A	377	29	LILRB4	5	2
NLRP8	126205	broad.mit.edu	37	19	56467428	56467428	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56467428C>A	uc002qmh.2	+	c.2004C>A	c.(2002-2004)AAC>AAA	p.N668K	NLRP8_uc010etg.2_Missense_Mutation_p.N668K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	668						cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)										0.195312	61.030441	72.087679	25	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56467428	56467428	10886	19	C	A	A	A	246	19	NLRP8	1	1
PEG3	5178	broad.mit.edu	37	19	57326484	57326484	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57326484C>A	uc002qnu.2	-	c.3326G>T	c.(3325-3327)TGT>TTT	p.C1109F	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C1080F|PEG3_uc002qnv.2_Missense_Mutation_p.C1109F|PEG3_uc002qnw.2_Missense_Mutation_p.C985F|PEG3_uc002qnx.2_Missense_Mutation_p.C983F|PEG3_uc010etr.2_Missense_Mutation_p.C1109F	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1109	C2H2-type 6.				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)										0.145833	35.369813	52.74687	21	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57326484	57326484	12141	19	C	A	A	A	221	17	PEG3	2	2
C19orf45	374877	broad.mit.edu	37	19	7566259	7566259	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7566259A>T	uc002mgm.2	+	c.551A>T	c.(550-552)CAG>CTG	p.Q184L		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	184											0														0.28	16.890876	17.997293	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7566259	7566259	1992	19	A	T	T	T	91	7	C19orf45	3	3
LASS4	79603	broad.mit.edu	37	19	8320582	8320582	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8320582A>T	uc002mjg.2	+	c.383A>T	c.(382-384)CAG>CTG	p.Q128L	LASS4_uc002mjh.2_Missense_Mutation_p.Q77L|LASS4_uc002mji.2_5'UTR|LASS4_uc010dvz.2_Missense_Mutation_p.Q128L	NM_024552	NP_078828	Q9HA82	LASS4_HUMAN	LAG1 homolog, ceramide synthase 4	128	Homeobox.				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1														0.333333	11.395751	11.691083	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8320582	8320582	8964	19	A	T	T	T	91	7	LASS4	3	3
MUC16	94025	broad.mit.edu	37	19	9086026	9086026	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9086026C>G	uc002mkp.2	-	c.5789G>C	c.(5788-5790)AGG>ACG	p.R1930T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1930	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.452381	63.120834	63.203748	19	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9086026	9086026	10367	19	C	G	G	G	312	24	MUC16	3	3
UBE4B	10277	broad.mit.edu	37	1	10166582	10166582	+	Silent	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10166582A>G	uc001aqs.3	+	c.1137A>G	c.(1135-1137)CTA>CTG	p.L379L	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	379					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)										0.112299	25.091664	52.883725	21	166	KEEP	---	---	---	---	capture		Silent	SNP	10166582	10166582	17441	1	A	G	G	G	171	14	UBE4B	4	4
PRMT6	55170	broad.mit.edu	37	1	107600116	107600116	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107600116G>T	uc010ous.1	+	c.779G>T	c.(778-780)CGC>CTC	p.R260L		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	260					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)										0.421053	69.588336	69.898753	24	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107600116	107600116	12983	1	G	T	T	T	494	38	PRMT6	1	1
NTNG1	22854	broad.mit.edu	37	1	107867132	107867132	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107867132C>A	uc001dvh.3	+	c.475C>A	c.(475-477)CAA>AAA	p.Q159K	NTNG1_uc001dvf.3_Missense_Mutation_p.Q159K|NTNG1_uc010out.1_Missense_Mutation_p.Q159K|NTNG1_uc001dvc.3_Missense_Mutation_p.Q159K|NTNG1_uc001dvd.1_Missense_Mutation_p.Q159K	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	159	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)	4		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)										0.3125	124.322835	128.829448	45	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107867132	107867132	11109	1	C	A	A	A	273	21	NTNG1	2	2
ST7L	54879	broad.mit.edu	37	1	113098589	113098589	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:113098589G>T	uc001ecd.2	-	c.1297C>A	c.(1297-1299)CGG>AGG	p.R433R	ST7L_uc009wgh.2_Intron|ST7L_uc001ecc.2_Silent_p.R250R|ST7L_uc010owg.1_Silent_p.R368R|ST7L_uc010owh.1_Silent_p.R227R|ST7L_uc001ece.2_Silent_p.R433R|ST7L_uc001ecf.2_Silent_p.R416R|ST7L_uc001ecg.2_Non-coding_Transcript|ST7L_uc010owi.1_Silent_p.R368R|ST7L_uc001ech.2_Silent_p.R416R|ST7L_uc001eci.2_Silent_p.R433R|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Intron	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	433					negative regulation of cell growth	integral to membrane	binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.101695	12.907901	31.579557	12	106	KEEP	---	---	---	---	capture		Silent	SNP	113098589	113098589	15748	1	G	T	T	T	519	40	ST7L	1	1
IGSF3	3321	broad.mit.edu	37	1	117150665	117150665	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117150665T>C	uc001egq.1	-	c.1121A>G	c.(1120-1122)TAC>TGC	p.Y374C	IGSF3_uc001egr.1_Missense_Mutation_p.Y374C|IGSF3_uc001egs.1_Missense_Mutation_p.Y47C	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	374	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)										0.347826	251.659224	255.880248	72	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117150665	117150665	7902	1	T	C	C	C	741	57	IGSF3	4	4
ADAMTSL4	54507	broad.mit.edu	37	1	150526056	150526056	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150526056C>T	uc009wlw.2	+	c.589C>T	c.(589-591)CCT>TCT	p.P197S	ADAMTSL4_uc001euw.2_Missense_Mutation_p.P197S|ADAMTSL4_uc001eux.2_Missense_Mutation_p.P197S|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.P197S	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	197					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)											0.450382	187.114013	187.393831	59	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150526056	150526056	278	1	C	T	T	T	286	22	ADAMTSL4	2	2
PSMD4	5710	broad.mit.edu	37	1	151237896	151237896	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151237896C>T	uc001exn.2	+	c.465C>T	c.(463-465)GCC>GCT	p.A155A	PSMD4_uc001exl.2_Silent_p.A155A	NM_002810	NP_002801	P55036	PSMD4_HUMAN	proteasome 26S non-ATPase subunit 4	155	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)											0.494253	139.617691	139.62027	43	44	KEEP	---	---	---	---	capture		Silent	SNP	151237896	151237896	13153	1	C	T	T	T	301	24	PSMD4	2	2
NPR1	4881	broad.mit.edu	37	1	153653755	153653755	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153653755A>C	uc001fcs.3	+	c.1021A>C	c.(1021-1023)ATG>CTG	p.M341L	NPR1_uc010pdz.1_Missense_Mutation_p.M87L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	341	Extracellular (Potential).				diuresis|intracellular signal transduction|natriuresis|negative regulation of angiogenesis|negative regulation of cell growth|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	integral to plasma membrane	ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|breast(1)	6	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	Pancreas(141;1349 1870 15144 15830 40702)				382				0.37963	143.957128	145.327094	41	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153653755	153653755	10999	1	A	C	C	C	104	8	NPR1	4	4
SYT11	23208	broad.mit.edu	37	1	155838424	155838424	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155838424A>T	uc001fmg.2	+	c.703A>T	c.(703-705)AGC>TGC	p.S235C	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	235	Cytoplasmic (Potential).|C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)											0.297297	59.224328	61.94126	22	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155838424	155838424	15988	1	A	T	T	T	91	7	SYT11	3	3
RXFP4	339403	broad.mit.edu	37	1	155911749	155911749	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155911749G>A	uc010pgs.1	+	c.249G>A	c.(247-249)CTG>CTA	p.L83L		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	83	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.102041	7.378504	22.852994	10	88	KEEP	---	---	---	---	capture		Silent	SNP	155911749	155911749	14242	1	G	A	A	A	600	47	RXFP4	2	2
FCRL1	115350	broad.mit.edu	37	1	157772420	157772420	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157772420C>A	uc001frg.2	-	c.354G>T	c.(352-354)CAG>CAT	p.Q118H	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.Q118H|FCRL1_uc001fri.2_Missense_Mutation_p.Q118H|FCRL1_uc001frj.2_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	118	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)	3	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GBM(54;482 1003 11223 30131 35730)								0.258065	19.48385	21.129439	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157772420	157772420	6031	1	C	A	A	A	363	28	FCRL1	2	2
SPEN	23013	broad.mit.edu	37	1	16255835	16255835	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16255835G>A	uc001axk.1	+	c.3100G>A	c.(3100-3102)GAG>AAG	p.E1034K	SPEN_uc010obp.1_Missense_Mutation_p.E993K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1034					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)						551				0.06422	-5.869704	15.658883	7	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16255835	16255835	15550	1	G	A	A	A	429	33	SPEN	2	2
RGS5	8490	broad.mit.edu	37	1	163117163	163117163	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163117163C>T	uc001gcn.2	-	c.515G>A	c.(514-516)CGC>CAC	p.R172H	RGS5_uc009wvb.2_Non-coding_Transcript	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	172	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)											0.286822	90.045687	95.292042	37	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163117163	163117163	13782	1	C	T	T	T	351	27	RGS5	1	1
DUSP27	92235	broad.mit.edu	37	1	167088687	167088687	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167088687G>T	uc001geb.1	+	c.639G>T	c.(637-639)GCG>GCT	p.A213A		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	213	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.163636	17.338993	23.251945	9	46	KEEP	---	---	---	---	capture		Silent	SNP	167088687	167088687	5009	1	G	T	T	T	483	38	DUSP27	1	1
DUSP27	92235	broad.mit.edu	37	1	167096318	167096318	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167096318C>A	uc001geb.1	+	c.1950C>A	c.(1948-1950)AGC>AGA	p.S650R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	650					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.536585	66.050521	66.098162	22	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167096318	167096318	5009	1	C	A	A	A	363	28	DUSP27	2	2
CROCC	9696	broad.mit.edu	37	1	17266539	17266539	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17266539G>A	uc001azt.2	+	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T	CROCC_uc009voy.1_Missense_Mutation_p.A290T|CROCC_uc009voz.1_Missense_Mutation_p.A350T|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	587	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)										0.565217	36.071896	36.156442	13	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17266539	17266539	4032	1	G	A	A	A	494	38	CROCC	1	1
TNR	7143	broad.mit.edu	37	1	175323529	175323529	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175323529G>C	uc001gkp.1	-	c.3380C>G	c.(3379-3381)ACA>AGA	p.T1127R	TNR_uc009wwu.1_Missense_Mutation_p.T1127R	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1127	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.109375	11.575118	21.245677	7	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175323529	175323529	16879	1	G	C	C	C	624	48	TNR	3	3
ASTN1	460	broad.mit.edu	37	1	176992651	176992651	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176992651G>A	uc001glc.2	-	c.1327C>T	c.(1327-1329)CCT>TCT	p.P443S	ASTN1_uc001glb.1_Missense_Mutation_p.P443S|ASTN1_uc001gld.1_Missense_Mutation_p.P443S|ASTN1_uc009wwx.1_Missense_Mutation_p.P443S|ASTN1_uc001gle.3_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	443					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11									p.P443T(NALM6-Tumor)	849				0.594595	67.239276	67.525684	22	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176992651	176992651	1083	1	G	A	A	A	559	43	ASTN1	2	2
ABL2	27	broad.mit.edu	37	1	179077769	179077769	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179077769C>A	uc001gmj.3	-	c.2633G>T	c.(2632-2634)GGG>GTG	p.G878V	ABL2_uc010pnf.1_Missense_Mutation_p.G775V|ABL2_uc010png.1_Missense_Mutation_p.G754V|ABL2_uc010pnh.1_Missense_Mutation_p.G857V|ABL2_uc001gmg.3_Missense_Mutation_p.G760V|ABL2_uc001gmi.3_Missense_Mutation_p.G863V|ABL2_uc001gmh.3_Missense_Mutation_p.G842V|ABL2_uc010pne.1_Missense_Mutation_p.G739V	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	878	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|breast(2)|central_nervous_system(1)	9					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)					285				0.192982	40.918386	50.931703	22	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179077769	179077769	94	1	C	A	A	A	286	22	ABL2	2	2
LHX4	89884	broad.mit.edu	37	1	180243319	180243319	+	Splice_Site_SNP	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180243319G>A	uc001goe.1	+	c.779_splice	c.e6-1	p.E260_splice		NM_033343	NP_203129			LIM homeobox protein 4						regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1														0.271084	123.794769	131.644419	45	121	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	180243319	180243319	9099	1	G	A	A	A	429	33	LHX4	5	2
CACNA1E	777	broad.mit.edu	37	1	181620564	181620564	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181620564G>C	uc001gow.2	+	c.1042G>C	c.(1042-1044)GGA>CGA	p.G348R	CACNA1E_uc009wxr.2_Missense_Mutation_p.G255R|CACNA1E_uc009wxs.2_Missense_Mutation_p.G255R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	348	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.175325	59.124274	74.43782	27	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181620564	181620564	2658	1	G	C	C	C	559	43	CACNA1E	3	3
CACNA1E	777	broad.mit.edu	37	1	181702074	181702074	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181702074C>T	uc001gow.2	+	c.2852C>T	c.(2851-2853)GCC>GTC	p.A951V	CACNA1E_uc009wxs.2_Missense_Mutation_p.A839V|CACNA1E_uc001gox.1_Missense_Mutation_p.A177V|CACNA1E_uc009wxt.2_Missense_Mutation_p.A177V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	951	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.042017	-17.231876	9.586625	5	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181702074	181702074	2658	1	C	T	T	T	338	26	CACNA1E	2	2
HMCN1	83872	broad.mit.edu	37	1	186083241	186083242	+	Missense_Mutation	DNP	TG	AA	AA			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186083241_186083242TG>AA	uc001grq.1	+	c.11262_11263TG>AA	c.(11260-11265)GCTGGG>GCAAGG	p.G3755R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3755	Ig-like C2-type 36.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.201183	75.156813	89.181552	34	135	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	186083241	186083242	7511	1	TG	AA	AA	AA	704	55	HMCN1	3	3
UCHL5	51377	broad.mit.edu	37	1	192998665	192998665	+	Silent	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192998665T>A	uc001gsm.2	-	c.369A>T	c.(367-369)GCA>GCT	p.A123A	UCHL5_uc001gsn.2_Non-coding_Transcript|UCHL5_uc001gso.2_Silent_p.A123A|UCHL5_uc010pov.1_Intron|UCHL5_uc001gsp.2_Silent_p.A123A|UCHL5_uc001gsq.2_Silent_p.A123A|UCHL5_uc010pow.1_5'UTR|UCHL5_uc010pox.1_5'UTR	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	123					protein deubiquitination|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cytosol|nucleus|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1														0.525424	102.226753	102.259847	31	28	KEEP	---	---	---	---	capture		Silent	SNP	192998665	192998665	17480	1	T	A	A	A	704	55	UCHL5	3	3
CFH	3075	broad.mit.edu	37	1	196645149	196645149	+	Silent	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196645149T>C	uc001gtj.3	+	c.381T>C	c.(379-381)CGT>CGC	p.R127R	CFH_uc001gti.3_Silent_p.R127R|CFH_uc009wyw.2_Silent_p.R127R|CFH_uc009wyx.2_Silent_p.R127R	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	127	Sushi 2.		R -> L (in CFH deficiency; with membranoproliferative glomerulonephritis).		complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.085714	6.188835	42.725832	18	192	KEEP	---	---	---	---	capture		Silent	SNP	196645149	196645149	3416	1	T	C	C	C	756	59	CFH	4	4
CFH	3075	broad.mit.edu	37	1	196646761	196646761	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196646761G>C	uc001gtj.3	+	c.583G>C	c.(583-585)GAT>CAT	p.D195H	CFH_uc001gti.3_Missense_Mutation_p.D195H|CFH_uc009wyw.2_Missense_Mutation_p.D195H|CFH_uc009wyx.2_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	195	Sushi 3.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.219814	218.751945	242.099465	71	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196646761	196646761	3416	1	G	C	C	C	481	37	CFH	3	3
CFH	3075	broad.mit.edu	37	1	196706113	196706113	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196706113G>T	uc001gtj.3	+	c.2573G>T	c.(2572-2574)TGG>TTG	p.W858L		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	858	Sushi 14.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.195652	35.260256	43.256905	18	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196706113	196706113	3416	1	G	T	T	T	611	47	CFH	2	2
F13B	2165	broad.mit.edu	37	1	197029536	197029536	+	Nonsense_Mutation	SNP	G	T	T	rs5994	byFrequency	TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197029536G>T	uc001gtt.1	-	c.765C>A	c.(763-765)TGC>TGA	p.C255*		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	255	Sushi 4.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.131737	31.924152	53.942103	22	145	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	197029536	197029536	5535	1	G	T	T	T	438	34	F13B	5	2
DENND1B	163486	broad.mit.edu	37	1	197643291	197643291	+	Silent	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197643291T>C	uc010ppe.1	-	c.135A>G	c.(133-135)CTA>CTG	p.L45L	DENND1B_uc010ppf.1_Non-coding_Transcript|DENND1B_uc001guf.3_Silent_p.L45L|DENND1B_uc001gue.3_Silent_p.L35L	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 1	45	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0														0.4375	27.12453	27.178688	7	9	KEEP	---	---	---	---	capture		Silent	SNP	197643291	197643291	4606	1	T	C	C	C	730	57	DENND1B	4	4
IGFN1	91156	broad.mit.edu	37	1	201195114	201195114	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201195114G>T	uc001gwc.2	+	c.2129G>T	c.(2128-2130)CGC>CTC	p.R710L	IGFN1_uc001gwb.2_Non-coding_Transcript	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3														0.258621	37.498372	40.561896	15	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201195114	201195114	7891	1	G	T	T	T	494	38	IGFN1	1	1
PLEKHA6	22874	broad.mit.edu	37	1	204228807	204228807	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204228807T>A	uc001hau.2	-	c.586A>T	c.(586-588)AAC>TAC	p.N196Y	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	196	Pro-rich.									ovary(2)|pancreas(1)	3	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)											0.283019	82.61546	87.092059	30	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204228807	204228807	12486	1	T	A	A	A	819	63	PLEKHA6	3	3
TMEM81	388730	broad.mit.edu	37	1	205053177	205053177	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205053177T>C	uc001hbt.2	-	c.272A>G	c.(271-273)CAT>CGT	p.H91R		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	91	Ig-like.|Extracellular (Potential).					integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)											0.284722	116.61884	122.607415	41	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205053177	205053177	16744	1	T	C	C	C	663	51	TMEM81	4	4
PIGR	5284	broad.mit.edu	37	1	207110897	207110897	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207110897C>T	uc001hez.2	-	c.588G>A	c.(586-588)CAG>CAA	p.Q196Q	PIGR_uc009xbz.2_Silent_p.Q196Q	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	196	Ig-like V-type 2.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2														0.181818	22.615611	27.84725	10	45	KEEP	---	---	---	---	capture		Silent	SNP	207110897	207110897	12321	1	C	T	T	T	311	24	PIGR	2	2
FCAMR	83953	broad.mit.edu	37	1	207135748	207135748	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207135748G>T	uc001hfa.3	-	c.462C>A	c.(460-462)ACC>ACA	p.T154T	FCAMR_uc001hfb.2_Silent_p.T154T|FCAMR_uc009xca.1_Silent_p.T154T|FCAMR_uc001hfc.2_Silent_p.T129T	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity isoform 2	109	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						Ovarian(199;1883 2142 16966 44409 45154)								0.211765	39.097416	45.63201	18	67	KEEP	---	---	---	---	capture		Silent	SNP	207135748	207135748	6009	1	G	T	T	T	600	47	FCAMR	2	2
ESRRG	2104	broad.mit.edu	37	1	216824369	216824369	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216824369A>G	uc001hkx.1	-	c.550T>C	c.(550-552)TCC>CCC	p.S184P	ESRRG_uc001hky.1_Missense_Mutation_p.S156P|ESRRG_uc009xdp.1_Missense_Mutation_p.S156P|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Missense_Mutation_p.S156P|ESRRG_uc001hla.1_Missense_Mutation_p.S156P|ESRRG_uc001hlb.1_Missense_Mutation_p.S156P|ESRRG_uc010pud.1_5'UTR|ESRRG_uc001hlc.1_Missense_Mutation_p.S156P|ESRRG_uc001hld.1_Missense_Mutation_p.S156P|ESRRG_uc009xdo.1_Missense_Mutation_p.S156P|ESRRG_uc001hkw.1_Missense_Mutation_p.S179P|ESRRG_uc001hle.1_Missense_Mutation_p.S156P	NM_206595	NP_996318	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 2	179	Nuclear receptor.|NR C4-type.				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)									0.245989	133.381711	144.350699	46	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216824369	216824369	5455	1	A	G	G	G	156	12	ESRRG	4	4
MIA3	375056	broad.mit.edu	37	1	222805592	222805592	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222805592G>A	uc001hnl.2	+	c.3255G>A	c.(3253-3255)TTG>TTA	p.L1085L	MIA3_uc009xea.1_Silent_p.L921L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1085	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)										0.132653	40.404545	66.099899	26	170	KEEP	---	---	---	---	capture		Silent	SNP	222805592	222805592	9955	1	G	A	A	A	607	47	MIA3	2	2
DISP1	84976	broad.mit.edu	37	1	223178964	223178964	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:223178964C>A	uc001hnu.1	+	c.4225C>A	c.(4225-4227)CCC>ACC	p.P1409T		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1409					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)										0.528926	193.61071	193.699988	64	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223178964	223178964	4718	1	C	A	A	A	286	22	DISP1	2	2
C1QA	712	broad.mit.edu	37	1	22964187	22964187	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22964187C>A	uc001bfy.2	+	c.78C>A	c.(76-78)TGC>TGA	p.C26*	C1QA_uc001bfz.2_Nonsense_Mutation_p.C26*	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	26					cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.4	29.686555	29.950764	12	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22964187	22964187	2021	1	C	A	A	A	337	26	C1QA	5	2
RYR2	6262	broad.mit.edu	37	1	237778129	237778129	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237778129C>A	uc001hyl.1	+	c.5701C>A	c.(5701-5703)CCA>ACA	p.P1901T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1901	Cytoplasmic (By similarity).|4 X approximate repeats.				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)											0.243243	42.750269	47.172749	18	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237778129	237778129	14249	1	C	A	A	A	338	26	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237837479	237837479	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237837479A>G	uc001hyl.1	+	c.8674A>G	c.(8674-8676)ATC>GTC	p.I2892V	RYR2_uc010pxz.1_5'Flank	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2892	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|Calmodulin-binding (Potential).|4.				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)											0.530435	212.376918	212.469643	61	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237837479	237837479	14249	1	A	G	G	G	104	8	RYR2	4	4
RYR2	6262	broad.mit.edu	37	1	237947112	237947112	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947112G>T	uc001hyl.1	+	c.12100G>T	c.(12100-12102)GAA>TAA	p.E4034*	RYR2_uc010pya.1_Nonsense_Mutation_p.E449*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4034	EF-hand.				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)											0.195122	14.969651	18.531884	8	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	237947112	237947112	14249	1	G	T	T	T	429	33	RYR2	5	2
OR2W5	441932	broad.mit.edu	37	1	247654579	247654579	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247654579C>A	uc001icz.1	+	c.150C>A	c.(148-150)GTC>GTA	p.V50V		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	50	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.5	186.212102	186.212102	63	63	KEEP	---	---	---	---	capture		Silent	SNP	247654579	247654579	11440	1	C	A	A	A	366	29	OR2W5	2	2
OR2T8	343172	broad.mit.edu	37	1	248085161	248085161	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248085161C>G	uc010pzc.1	+	c.842C>G	c.(841-843)CCT>CGT	p.P281R		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.389558	285.20184	287.867001	97	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248085161	248085161	11436	1	C	G	G	G	312	24	OR2T8	3	3
STX12	23673	broad.mit.edu	37	1	28138717	28138717	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28138717G>T	uc001bou.3	+	c.514G>T	c.(514-516)GCC>TCC	p.A172S		NM_177424	NP_803173	Q86Y82	STX12_HUMAN	syntaxin 12	172	Cytoplasmic (Potential).				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		Ovarian(5;5 342 2097 9488 34083)								0.375	8.022239	8.132259	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28138717	28138717	15858	1	G	T	T	T	546	42	STX12	2	2
PTPRU	10076	broad.mit.edu	37	1	29638171	29638171	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29638171A>G	uc001bru.2	+	c.3002A>G	c.(3001-3003)TAC>TGC	p.Y1001C	PTPRU_uc001brv.2_Missense_Mutation_p.Y997C|PTPRU_uc001brw.2_Missense_Mutation_p.Y991C|PTPRU_uc009vtq.2_Missense_Mutation_p.Y997C|PTPRU_uc009vtr.2_Missense_Mutation_p.Y988C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1001	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)						874				0.198529	69.971339	81.45849	27	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29638171	29638171	13271	1	A	G	G	G	182	14	PTPRU	4	4
CSMD2	114784	broad.mit.edu	37	1	34087803	34087803	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34087803T>A	uc001bxm.1	-	c.5791A>T	c.(5791-5793)AGC>TGC	p.S1931C	CSMD2_uc001bxn.1_Missense_Mutation_p.S1891C|CSMD2_uc001bxo.1_Missense_Mutation_p.S804C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1891	CUB 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.461538	313.590233	313.856894	96	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34087803	34087803	4086	1	T	A	A	A	715	55	CSMD2	3	3
GRIK3	2899	broad.mit.edu	37	1	37282790	37282790	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37282790C>A	uc001caz.2	-	c.1962G>T	c.(1960-1962)ACG>ACT	p.T654T	GRIK3_uc001cba.1_Silent_p.T654T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	654	Helical; (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)									0.175258	31.017015	40.666802	17	80	KEEP	---	---	---	---	capture		Silent	SNP	37282790	37282790	7054	1	C	A	A	A	288	23	GRIK3	1	1
DFFB	1677	broad.mit.edu	37	1	3774281	3774281	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3774281G>T	uc010nzn.1	+	c.114G>T	c.(112-114)CAG>CAT	p.Q38H	DFFB_uc001alc.2_Missense_Mutation_p.Q38H|DFFB_uc001ale.2_Non-coding_Transcript|DFFB_uc009vlp.2_Non-coding_Transcript|DFFB_uc001alb.2_Non-coding_Transcript|DFFB_uc009vlq.2_Non-coding_Transcript|DFFB_uc009vlr.2_5'UTR|DFFB_uc001ald.2_5'UTR|KIAA0562_uc001aky.2_5'Flank|KIAA0562_uc010nzm.1_5'Flank|KIAA0562_uc001akz.2_5'Flank|DFFB_uc009vln.1_Missense_Mutation_p.Q38H|DFFB_uc001ala.1_Missense_Mutation_p.Q38H|DFFB_uc009vlo.1_Missense_Mutation_p.Q38H	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	38	CIDE-N.				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)						1253				0.727273	26.004259	26.516151	8	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3774281	3774281	4632	1	G	T	T	T	451	35	DFFB	2	2
TIE1	7075	broad.mit.edu	37	1	43783064	43783064	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43783064C>A	uc001ciu.2	+	c.2604C>A	c.(2602-2604)GCC>GCA	p.A868A	TIE1_uc010oke.1_Silent_p.A823A|TIE1_uc009vwq.2_Silent_p.A824A|TIE1_uc010okg.1_Silent_p.A513A	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	868	Cytoplasmic (Potential).|Protein kinase.				mesoderm development|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			stomach(1)|salivary_gland(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)								488				0.486486	164.039965	164.057791	54	57	KEEP	---	---	---	---	capture		Silent	SNP	43783064	43783064	16421	1	C	A	A	A	262	21	TIE1	2	2
SLC6A9	6536	broad.mit.edu	37	1	44477388	44477388	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44477388G>T	uc001cll.2	-	c.94C>A	c.(94-96)CTT>ATT	p.L32I	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Intron|SLC6A9_uc009vxd.2_Intron|SLC6A9_uc010okn.1_Intron|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	32	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)									0.142857	15.599711	24.206753	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44477388	44477388	15188	1	G	T	T	T	442	34	SLC6A9	2	2
RNF220	55182	broad.mit.edu	37	1	45088460	45088460	+	Splice_Site_SNP	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45088460G>A	uc001clv.1	+	c.804_splice	c.e4+1	p.K268_splice	RNF220_uc001clw.1_Splice_Site_SNP_p.K268_splice|RNF220_uc010okx.1_Splice_Site_SNP_p.K29_splice|RNF220_uc010oky.1_Splice_Site_SNP_p.K29_splice	NM_018150	NP_060620			ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2														0.177083	29.711983	39.150339	17	79	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	45088460	45088460	13961	1	G	A	A	A	572	44	RNF220	5	2
SPATA6	54558	broad.mit.edu	37	1	48764476	48764476	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:48764476C>A	uc001crr.1	-	c.1376G>T	c.(1375-1377)CGA>CTA	p.R459L	SPATA6_uc001crs.1_Missense_Mutation_p.R443L|SPATA6_uc010omv.1_Missense_Mutation_p.R445L	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	459					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1														0.079848	-1.12787	46.246427	21	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48764476	48764476	15523	1	C	A	A	A	403	31	SPATA6	1	1
TTC22	55001	broad.mit.edu	37	1	55253433	55253433	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55253433C>A	uc009vzt.1	-	c.690G>T	c.(688-690)ACG>ACT	p.T230T	TTC22_uc001cxz.3_Silent_p.T230T	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	230	TPR 3.						binding				0														0.388889	19.505678	19.704578	7	11	KEEP	---	---	---	---	capture		Silent	SNP	55253433	55253433	17243	1	C	A	A	A	340	27	TTC22	1	1
ELTD1	64123	broad.mit.edu	37	1	79403492	79403492	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79403492C>A	uc001diq.3	-	c.760G>T	c.(760-762)GCT>TCT	p.A254S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	254	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)										0.358553	311.376886	316.738822	109	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79403492	79403492	5276	1	C	A	A	A	312	24	ELTD1	2	2
COL24A1	255631	broad.mit.edu	37	1	86252065	86252065	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86252065G>T	uc001dlj.2	-	c.4031C>A	c.(4030-4032)CCA>CAA	p.P1344Q	COL24A1_uc001dli.2_Missense_Mutation_p.P480Q|COL24A1_uc010osd.1_Missense_Mutation_p.P644Q|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1344	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.365639	235.454817	239.062398	83	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86252065	86252065	3821	1	G	T	T	T	611	47	COL24A1	2	2
NOC2L	26155	broad.mit.edu	37	1	887454	887454	+	Silent	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:887454C>G	uc009vjq.2	-	c.1257G>C	c.(1255-1257)CTG>CTC	p.L419L	NOC2L_uc001aby.3_Silent_p.L216L|NOC2L_uc001abz.3_Silent_p.L419L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	419						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)										0.297297	68.319966	71.039013	22	52	KEEP	---	---	---	---	capture		Silent	SNP	887454	887454	10916	1	C	G	G	G	366	29	NOC2L	3	3
LPPR4	9890	broad.mit.edu	37	1	99772505	99772505	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99772505C>A	uc001dse.2	+	c.2231C>A	c.(2230-2232)CCC>CAC	p.P744H	LPPR4_uc010oue.1_Missense_Mutation_p.P686H	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	744							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.365385	174.4316	176.918658	57	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99772505	99772505	9300	1	C	A	A	A	286	22	LPPR4	2	2
RALGAPA2	57186	broad.mit.edu	37	20	20484116	20484116	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:20484116C>T	uc002wrz.2	-	c.5087G>A	c.(5086-5088)GGC>GAC	p.G1696D	RALGAPA2_uc010gcx.2_Missense_Mutation_p.G1400D|RALGAPA2_uc010zsg.1_Missense_Mutation_p.G1144D|RALGAPA2_uc002wsa.1_Missense_Mutation_p.G468D	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1696	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1														0.318182	39.340214	40.630024	14	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20484116	20484116	13474	20	C	T	T	T	338	26	RALGAPA2	2	2
NKX2-2	4821	broad.mit.edu	37	20	21494266	21494266	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:21494266G>A	uc002wsi.2	-	c.42C>T	c.(40-42)GAC>GAT	p.D14D		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	14					brain development	nucleus	transcription regulator activity			pancreas(1)	1														0.194175	37.26093	46.237875	20	83	KEEP	---	---	---	---	capture		Silent	SNP	21494266	21494266	10852	20	G	A	A	A	620	48	NKX2-2	2	2
GINS1	9837	broad.mit.edu	37	20	25405910	25405910	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25405910G>T	uc002wuv.1	+	c.394G>T	c.(394-396)GAA>TAA	p.E132*	GINS1_uc010zte.1_Non-coding_Transcript	NM_021067	NP_066545	Q14691	PSF1_HUMAN	GINS complex subunit 1	132					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				ovary(1)|central_nervous_system(1)	2														0.245614	67.537806	74.260296	28	86	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25405910	25405910	6655	20	G	T	T	T	585	45	GINS1	5	2
CPXM1	56265	broad.mit.edu	37	20	2775946	2775946	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2775946C>G	uc002wgu.2	-	c.1837G>C	c.(1837-1839)GCC>CCC	p.A613P	CPXM1_uc010gas.2_Missense_Mutation_p.A539P	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	613					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2														0.516129	108.821233	108.836757	32	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2775946	2775946	3976	20	C	G	G	G	351	27	CPXM1	3	3
PLUNC	51297	broad.mit.edu	37	20	31825969	31825969	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31825969G>T	uc002wyv.2	+	c.269G>T	c.(268-270)GGA>GTA	p.G90V	PLUNC_uc002wyt.3_Missense_Mutation_p.G90V|PLUNC_uc002wyu.3_Missense_Mutation_p.G90V	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	90					innate immune response	extracellular region	lipid binding				0														0.4	151.038088	152.327243	58	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31825969	31825969	12541	20	G	T	T	T	533	41	PLUNC	2	2
ITCH	83737	broad.mit.edu	37	20	33028121	33028121	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33028121C>T	uc010geu.1	+	c.964C>T	c.(964-966)CCT>TCT	p.P322S	ITCH_uc002xak.2_Missense_Mutation_p.P281S|ITCH_uc010zuj.1_Missense_Mutation_p.P171S	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	322					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity				0														0.272727	56.738846	60.325	21	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33028121	33028121	8172	20	C	T	T	T	390	30	ITCH	2	2
FAM83C	128876	broad.mit.edu	37	20	33874942	33874942	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33874942G>T	uc010zux.1	-	c.1640C>A	c.(1639-1641)TCC>TAC	p.S547Y	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.S202Y	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	547										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.448276	33.087886	33.151543	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33874942	33874942	5861	20	G	T	T	T	533	41	FAM83C	2	2
RBM39	9584	broad.mit.edu	37	20	34295112	34295112	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34295112C>A	uc002xeb.2	-	c.1237G>T	c.(1237-1239)GCT>TCT	p.A413S	RBM39_uc002xdz.2_Missense_Mutation_p.A389S|RBM39_uc002xea.2_Missense_Mutation_p.A256S|RBM39_uc010gfn.2_Missense_Mutation_p.A256S|RBM39_uc010zvm.1_Missense_Mutation_p.A385S|RBM39_uc002xeg.2_Missense_Mutation_p.A391S|RBM39_uc002xec.2_Missense_Mutation_p.A407S|RBM39_uc002xed.2_Missense_Mutation_p.A131S|RBM39_uc002xee.2_Missense_Mutation_p.A256S|RBM39_uc002xef.2_Missense_Mutation_p.A250S|RBM39_uc010zvn.1_Missense_Mutation_p.A256S	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	413	Poly-Ala.|Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)													0.428571	69.1882	69.437981	24	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34295112	34295112	13595	20	C	A	A	A	364	28	RBM39	2	2
EPB41L1	2036	broad.mit.edu	37	20	34782249	34782249	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34782249G>T	uc002xfb.2	+	c.1416G>T	c.(1414-1416)GAG>GAT	p.E472D	EPB41L1_uc002xeu.2_Missense_Mutation_p.E410D|EPB41L1_uc010zvo.1_Missense_Mutation_p.E472D|EPB41L1_uc002xev.2_Missense_Mutation_p.E472D|EPB41L1_uc002xew.2_Missense_Mutation_p.E375D|EPB41L1_uc002xex.2_Missense_Mutation_p.E441D|EPB41L1_uc002xey.2_Missense_Mutation_p.E399D|EPB41L1_uc002xez.2_Missense_Mutation_p.E410D	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	472					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)													0.333333	32.222323	33.202003	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34782249	34782249	5345	20	G	T	T	T	451	35	EPB41L1	2	2
ADRA1D	146	broad.mit.edu	37	20	4228885	4228885	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4228885G>T	uc002wkr.2	-	c.720C>A	c.(718-720)CCC>CCA	p.P240P		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	240	Extracellular (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)									0.444444	10.597593	10.621958	4	5	KEEP	---	---	---	---	capture		Silent	SNP	4228885	4228885	337	20	G	T	T	T	548	43	ADRA1D	2	2
ZMYND8	23613	broad.mit.edu	37	20	45920619	45920619	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45920619T>A	uc010zxy.1	-	c.602A>T	c.(601-603)CAG>CTG	p.Q201L	ZMYND8_uc010ghr.1_Missense_Mutation_p.Q149L|ZMYND8_uc002xst.1_Missense_Mutation_p.Q149L|ZMYND8_uc002xsu.1_Missense_Mutation_p.Q174L|ZMYND8_uc002xsv.1_Missense_Mutation_p.Q149L|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.Q149L|ZMYND8_uc002xsz.1_Missense_Mutation_p.Q111L|ZMYND8_uc002xta.1_Missense_Mutation_p.Q174L|ZMYND8_uc002xtb.1_Missense_Mutation_p.Q194L|ZMYND8_uc002xss.2_Missense_Mutation_p.Q174L|ZMYND8_uc010zxz.1_Missense_Mutation_p.Q169L|ZMYND8_uc002xtc.1_Missense_Mutation_p.Q194L|ZMYND8_uc002xtd.1_Missense_Mutation_p.Q169L|ZMYND8_uc002xte.1_Missense_Mutation_p.Q174L|ZMYND8_uc010zya.1_Missense_Mutation_p.Q174L|ZMYND8_uc002xtf.1_Missense_Mutation_p.Q194L|ZMYND8_uc002xtg.2_Missense_Mutation_p.Q168L|ZMYND8_uc010ghs.1_Missense_Mutation_p.Q168L	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform a	174	Bromo.						protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)											0.116667	10.186714	18.85568	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45920619	45920619	18302	20	T	A	A	A	715	55	ZMYND8	3	3
KCNB1	3745	broad.mit.edu	37	20	47990041	47990041	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47990041G>C	uc002xur.1	-	c.2056C>G	c.(2056-2058)CCC>GCC	p.P686A	KCNB1_uc002xus.1_Missense_Mutation_p.P686A	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	686	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.120482	14.395143	26.114751	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47990041	47990041	8317	20	G	C	C	C	559	43	KCNB1	3	3
PROKR2	128674	broad.mit.edu	37	20	5283203	5283203	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5283203G>T	uc010zqw.1	-	c.638C>A	c.(637-639)CCT>CAT	p.P213H	PROKR2_uc010zqx.1_Missense_Mutation_p.P213H|PROKR2_uc010zqy.1_Missense_Mutation_p.P213H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	213	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.365714	170.112899	172.903271	64	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5283203	5283203	12996	20	G	T	T	T	455	35	PROKR2	2	2
MC3R	4159	broad.mit.edu	37	20	54824013	54824013	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:54824013C>A	uc002xxb.2	+	c.114C>A	c.(112-114)GTC>GTA	p.V38V		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	75	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)	2			Colorectal(105;0.202)											0.343949	141.457326	144.855199	54	103	KEEP	---	---	---	---	capture		Silent	SNP	54824013	54824013	9754	20	C	A	A	A	405	32	MC3R	2	2
STX16	8675	broad.mit.edu	37	20	57244382	57244382	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57244382G>T	uc002xzi.2	+	c.429G>T	c.(427-429)CTG>CTT	p.L143L	STX16_uc010zzq.1_Intron|STX16_uc002xzk.2_Silent_p.L126L|STX16_uc002xzm.2_Silent_p.L139L|STX16_uc002xzj.2_Silent_p.L122L|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	143	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)											0.444444	46.992978	47.090097	16	20	KEEP	---	---	---	---	capture		Silent	SNP	57244382	57244382	15859	20	G	T	T	T	587	46	STX16	2	2
GNAS	2778	broad.mit.edu	37	20	57430234	57430234	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57430234G>T	uc002xzw.2	+	c.1914G>T	c.(1912-1914)AAG>AAT	p.K638N	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_Non-coding_Transcript	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|large_intestine(5)|parathyroid(5)|kidney(5)|lung(2)|testis(1)|autonomic_ganglia(1)	279	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			Colon(117;935 1597 6045 8307 46442)				461	TSP Lung(22;0.16)			0.166667	7.15238	10.329761	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57430234	57430234	6779	20	G	T	T	T	455	35	GNAS	2	2
ZNF831	128611	broad.mit.edu	37	20	57766376	57766376	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57766376G>T	uc002yan.2	+	c.302G>T	c.(301-303)GGC>GTC	p.G101V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	101	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.55	31.425451	31.469023	11	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57766376	57766376	18784	20	G	T	T	T	546	42	ZNF831	2	2
ZNF831	128611	broad.mit.edu	37	20	57767202	57767202	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57767202G>T	uc002yan.2	+	c.1128G>T	c.(1126-1128)GAG>GAT	p.E376D		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	376						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.210526	6.79504	8.266344	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57767202	57767202	18784	20	G	T	T	T	451	35	ZNF831	2	2
CDH4	1002	broad.mit.edu	37	20	60348202	60348202	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60348202G>T	uc002ybn.1	+	c.540G>T	c.(538-540)GAG>GAT	p.E180D	CDH4_uc002ybp.1_Missense_Mutation_p.E106D	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	180	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)											0.444444	21.895536	21.944231	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60348202	60348202	3241	20	G	T	T	T	425	33	CDH4	2	2
LAMA5	3911	broad.mit.edu	37	20	60892742	60892742	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60892742C>A	uc002ycq.2	-	c.7332G>T	c.(7330-7332)CTG>CTT	p.L2444L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2444	Domain II and I.|Potential.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.307692	10.495606	10.923934	4	9	KEEP	---	---	---	---	capture		Silent	SNP	60892742	60892742	8932	20	C	A	A	A	314	25	LAMA5	2	2
SRMS	6725	broad.mit.edu	37	20	62174827	62174827	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62174827G>T	uc002yfi.1	-	c.485C>A	c.(484-486)GCC>GAC	p.A162D		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	162	SH2.				protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(1)	1	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)							557				0.276596	60.976704	65.225639	26	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62174827	62174827	15666	20	G	T	T	T	546	42	SRMS	2	2
C20orf103	24141	broad.mit.edu	37	20	9498797	9498797	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9498797C>G	uc002wni.1	+	c.586C>G	c.(586-588)CAG>GAG	p.Q196E	C20orf103_uc010zrc.1_Missense_Mutation_p.Q152E	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	chromosome 20 open reading frame 103 precursor	196	Extracellular (Potential).					integral to membrane				lung(1)|breast(1)	2			COAD - Colon adenocarcinoma(9;0.194)											0.356322	107.100211	108.682652	31	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9498797	9498797	2151	20	C	G	G	G	325	25	C20orf103	3	3
BACH1	571	broad.mit.edu	37	21	30698503	30698503	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30698503G>T	uc002ynj.2	+	c.358G>T	c.(358-360)GAA>TAA	p.E120*	BACH1_uc002ynk.2_Nonsense_Mutation_p.E120*|BACH1_uc002ynl.2_Non-coding_Transcript	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	120					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2														0.506494	112.515467	112.518138	39	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30698503	30698503	1304	21	G	T	T	T	533	41	BACH1	5	2
CACNA1I	8911	broad.mit.edu	37	22	40066860	40066860	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40066860C>A	uc003ayc.2	+	c.4440C>A	c.(4438-4440)ATC>ATA	p.I1480I	CACNA1I_uc003ayd.2_Silent_p.I1445I|CACNA1I_uc003aye.2_Silent_p.I1395I|CACNA1I_uc003ayf.2_Silent_p.I1360I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1480	Cytoplasmic (Potential).|IV.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)									0.5	87.082468	87.082468	32	32	KEEP	---	---	---	---	capture		Silent	SNP	40066860	40066860	2662	22	C	A	A	A	382	30	CACNA1I	2	2
MEI1	150365	broad.mit.edu	37	22	42191478	42191478	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42191478G>A	uc003baz.1	+	c.3598G>A	c.(3598-3600)GTG>ATG	p.V1200M	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.V586M|MEI1_uc003bbc.1_Missense_Mutation_p.V568M|MEI1_uc010gym.1_Missense_Mutation_p.V533M|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc003bbf.2_Missense_Mutation_p.V214M|MEI1_uc003bbg.2_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1200							binding			skin(1)	1														0.573333	128.635768	128.989014	43	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42191478	42191478	9854	22	G	A	A	A	624	48	MEI1	2	2
SLC9A4	389015	broad.mit.edu	37	2	103095688	103095688	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103095688A>G	uc002tbz.3	+	c.647A>G	c.(646-648)GAG>GGG	p.E216G		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	216	Helical; Name=F/M5A; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.277778	29.232676	30.834098	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103095688	103095688	15213	2	A	G	G	G	143	11	SLC9A4	4	4
TGFBRAP1	9392	broad.mit.edu	37	2	105924698	105924698	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:105924698C>A	uc002tcq.2	-	c.61G>T	c.(61-63)GAC>TAC	p.D21Y	TGFBRAP1_uc002tcr.3_Missense_Mutation_p.D21Y	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	21					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						Esophageal Squamous(183;794 2019 9730 21801 48859)								0.25	21.256641	23.302913	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105924698	105924698	16352	2	C	A	A	A	403	31	TGFBRAP1	1	1
LCT	3938	broad.mit.edu	37	2	136569909	136569909	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136569909G>T	uc002tuu.1	-	c.2325C>A	c.(2323-2325)TTC>TTA	p.F775L		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	775	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.208531	92.467909	109.081393	44	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136569909	136569909	9017	2	G	T	T	T	581	45	LCT	2	2
SPOPL	339745	broad.mit.edu	37	2	139316626	139316626	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139316626G>C	uc002tvh.2	+	c.515G>C	c.(514-516)GGA>GCA	p.G172A		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	172						nucleus				breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0296)										0.134328	36.059007	53.432158	18	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139316626	139316626	15598	2	G	C	C	C	533	41	SPOPL	3	3
NXPH2	11249	broad.mit.edu	37	2	139429232	139429232	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139429232A>G	uc002tvi.2	-	c.55T>C	c.(55-57)TTT>CTT	p.F19L		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	19					neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)										0.266667	75.26323	79.686256	24	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139429232	139429232	11196	2	A	G	G	G	52	4	NXPH2	4	4
LRP1B	53353	broad.mit.edu	37	2	141641433	141641433	+	Silent	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141641433T>A	uc002tvj.1	-	c.4122A>T	c.(4120-4122)GCA>GCT	p.A1374A	LRP1B_uc010fnl.1_Silent_p.A556A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1374	Extracellular (Potential).|LDL-receptor class B 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.383117	168.884935	170.730572	59	95	KEEP	---	---	---	---	capture		Silent	SNP	141641433	141641433	9328	2	T	A	A	A	704	55	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141819767	141819767	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141819767C>A	uc002tvj.1	-	c.1089G>T	c.(1087-1089)AGG>AGT	p.R363S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	363	Extracellular (Potential).|LDL-receptor class B 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.324324	115.521201	119.589865	48	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141819767	141819767	9328	2	C	A	A	A	389	30	LRP1B	2	2
RIF1	55183	broad.mit.edu	37	2	152320326	152320326	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152320326G>A	uc002txm.2	+	c.4292G>A	c.(4291-4293)AGC>AAC	p.S1431N	RIF1_uc002txl.2_Missense_Mutation_p.S1431N|RIF1_uc002txn.2_Missense_Mutation_p.S1431N|RIF1_uc002txo.2_Missense_Mutation_p.S1431N|RIF1_uc002txp.2_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1431					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12				BRCA - Breast invasive adenocarcinoma(221;0.0429)						950				0.153061	26.756571	38.048718	15	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152320326	152320326	13834	2	G	A	A	A	442	34	RIF1	2	2
DPP4	1803	broad.mit.edu	37	2	162891790	162891790	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162891790C>T	uc002ubz.2	-	c.658G>A	c.(658-660)GGC>AGC	p.G220S	DPP4_uc010fpb.2_5'UTR	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	220	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)									0.403509	143.129054	144.05658	46	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162891790	162891790	4913	2	C	T	T	T	299	23	DPP4	1	1
LASS6	253782	broad.mit.edu	37	2	169622131	169622131	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169622131G>T	uc002uec.1	+	c.875G>T	c.(874-876)TGG>TTG	p.W292L	LASS6_uc002ueb.1_Missense_Mutation_p.W292L	NM_203463	NP_982288	Q6ZMG9	LASS6_HUMAN	longevity assurance homolog 6	292	TLC.|Lumenal (Potential).				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0														0.256757	96.370899	104.317979	38	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169622131	169622131	8966	2	G	T	T	T	611	47	LASS6	2	2
TTN	7273	broad.mit.edu	37	2	179395553	179395553	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179395553G>T	uc010zfg.1	-	c.98085C>A	c.(98083-98085)GCC>GCA	p.A32695A	TTN_uc010zfh.1_Silent_p.A26390A|TTN_uc010zfi.1_Silent_p.A26323A|TTN_uc010zfj.1_Silent_p.A26198A|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1431										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.4125	103.564328	104.098148	33	47	KEEP	---	---	---	---	capture		Silent	SNP	179395553	179395553	17290	2	G	T	T	T	496	39	TTN	1	1
TTN	7273	broad.mit.edu	37	2	179485223	179485223	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179485223G>T	uc010zfg.1	-	c.38321C>A	c.(38320-38322)CCT>CAT	p.P12774H	TTN_uc010zfh.1_Missense_Mutation_p.P6469H|TTN_uc010zfi.1_Missense_Mutation_p.P6402H|TTN_uc010zfj.1_Missense_Mutation_p.P6277H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3098										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.178295	46.740355	59.314247	23	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179485223	179485223	17290	2	G	T	T	T	455	35	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179545824	179545824	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179545824T>C	uc010zfg.1	-	c.29590A>G	c.(29590-29592)ACT>GCT	p.T9864A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T6525A|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	579										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.227273	26.628886	29.63114	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179545824	179545824	17290	2	T	C	C	C	754	58	TTN	4	4
GEN1	348654	broad.mit.edu	37	2	17955603	17955603	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17955603G>T	uc002rct.2	+	c.1137G>T	c.(1135-1137)TTG>TTT	p.L379F	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.L379F|GEN1_uc002rcu.2_Missense_Mutation_p.L379F	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	379					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.276382	140.622809	149.592213	55	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17955603	17955603	6603	2	G	T	T	T	581	45	GEN1	2	2
TTN	7273	broad.mit.edu	37	2	179565846	179565846	+	Splice_Site_SNP	SNP	C	A	A	rs112818474		TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179565846C>A	uc010zfg.1	-	c.26950_splice	c.e108+1	p.V8984_splice	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_SNP_p.V5645_splice|TTN_uc010fre.1_Splice_Site_SNP_p.V95_splice	NM_133378	NP_596869			titin isoform N2-A											ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.23913	85.235064	93.790449	33	105	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	179565846	179565846	17290	2	C	A	A	A	234	18	TTN	5	2
DNAJC10	54431	broad.mit.edu	37	2	183601114	183601114	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183601114G>T	uc002uow.1	+	c.987_splice	c.e11+1	p.L329_splice	DNAJC10_uc002uox.1_Splice_Site_SNP|DNAJC10_uc002uoy.1_Splice_Site_SNP|DNAJC10_uc002uoz.1_Intron|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854			DnaJ (Hsp40) homolog, subfamily C, member 10						apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			Pancreas(56;860 1183 25669 35822 48585)								0.26	35.150367	37.759182	13	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	183601114	183601114	4812	2	G	T	T	T	572	44	DNAJC10	5	2
FRZB	2487	broad.mit.edu	37	2	183730841	183730841	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183730841C>A	uc002upa.1	-	c.440G>T	c.(439-441)TGC>TTC	p.C147F		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	147	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|regulation of gene-specific transcription from RNA polymerase II promoter|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)											0.272727	21.958374	23.496321	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183730841	183730841	6315	2	C	A	A	A	325	25	FRZB	2	2
ZNF804A	91752	broad.mit.edu	37	2	185801123	185801123	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185801123C>A	uc002uph.2	+	c.1000C>A	c.(1000-1002)CAA>AAA	p.Q334K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	334						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.306452	49.397822	51.471214	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185801123	185801123	18768	2	C	A	A	A	377	29	ZNF804A	2	2
COQ10B	80219	broad.mit.edu	37	2	198327273	198327273	+	Nonsense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198327273C>T	uc002uuh.1	+	c.265C>T	c.(265-267)CAG>TAG	p.Q89*	COQ10B_uc010fsl.1_Nonsense_Mutation_p.Q61*	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B precursor	89						mitochondrial inner membrane					0			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)											0.349398	78.845808	80.508814	29	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	198327273	198327273	3882	2	C	T	T	T	325	25	COQ10B	5	2
CFLAR	8837	broad.mit.edu	37	2	202025625	202025625	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202025625C>T	uc002uxb.3	+	c.1264C>T	c.(1264-1266)CTG>TTG	p.L422L	CFLAR_uc010zhk.1_Silent_p.L326L|CFLAR_uc002uxc.3_Silent_p.L387L|CFLAR_uc010zhl.1_Silent_p.L326L|CFLAR_uc010fsw.1_Non-coding_Transcript|CFLAR_uc002uxd.3_Silent_p.L422L|CFLAR_uc002uxf.2_Silent_p.L422L|CFLAR_uc010fsy.2_Non-coding_Transcript|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Silent_p.L326L|CFLAR_uc010fsz.2_Silent_p.L177L|CFLAR_uc002uxg.2_Silent_p.L177L	NM_003879	NP_003870	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator isoform	422	Interaction with caspase-8.|Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 subunits p18 and p10.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding				0						Pancreas(16;548 657 22190 32864 42338)								0.386364	54.567303	55.064435	17	27	KEEP	---	---	---	---	capture		Silent	SNP	202025625	202025625	3425	2	C	T	T	T	311	24	CFLAR	2	2
INO80D	54891	broad.mit.edu	37	2	206921452	206921452	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206921452G>T	uc002vaz.3	-	c.434C>A	c.(433-435)ACC>AAC	p.T145N		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	145										ovary(1)	1														0.333333	26.465813	27.130123	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206921452	206921452	8050	2	G	T	T	T	572	44	INO80D	2	2
CPO	130749	broad.mit.edu	37	2	207814375	207814375	+	Nonsense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207814375A>T	uc002vby.2	+	c.103A>T	c.(103-105)AAG>TAG	p.K35*		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	35					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)										0.407407	136.979685	137.7887	44	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	207814375	207814375	3958	2	A	T	T	T	65	5	CPO	5	3
ATIC	471	broad.mit.edu	37	2	216197222	216197222	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:216197222G>T	uc002vex.3	+	c.806G>T	c.(805-807)AGC>ATC	p.S269I	ATIC_uc010zjo.1_Missense_Mutation_p.S210I|ATIC_uc002vey.3_Missense_Mutation_p.S268I	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	269					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|soft_tissue(2)	26		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)					243				0.481481	78.247944	78.263946	26	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216197222	216197222	1124	2	G	T	T	T	442	34	ATIC	2	2
OBSL1	23363	broad.mit.edu	37	2	220423055	220423055	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220423055C>A	uc010fwk.2	-	c.3353G>T	c.(3352-3354)GGG>GTG	p.G1118V	OBSL1_uc002vmh.1_Missense_Mutation_p.G109V|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Missense_Mutation_p.G593V	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1118	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)										0.357143	13.870203	14.122247	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220423055	220423055	11218	2	C	A	A	A	286	22	OBSL1	2	2
DOCK10	55619	broad.mit.edu	37	2	225657747	225657747	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225657747G>A	uc010fwz.1	-	c.5255C>T	c.(5254-5256)TCG>TTG	p.S1752L	DOCK10_uc002vob.2_Missense_Mutation_p.S1746L|DOCK10_uc002voa.2_Missense_Mutation_p.S408L|DOCK10_uc002voc.2_Intron	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1752	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.030864	-60.01701	18.114321	10	314	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	225657747	225657747	4869	2	G	A	A	A	481	37	DOCK10	1	1
IRS1	3667	broad.mit.edu	37	2	227660836	227660836	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:227660836C>A	uc002voh.3	-	c.2619G>T	c.(2617-2619)CGG>CGT	p.R873R		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	873					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			central_nervous_system(4)|lung(3)|ovary(1)|pancreas(1)	9		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)						143				0.428571	75.746178	76.018676	27	36	KEEP	---	---	---	---	capture		Silent	SNP	227660836	227660836	8144	2	C	A	A	A	275	22	IRS1	2	2
COL4A4	1286	broad.mit.edu	37	2	227920787	227920787	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:227920787C>A	uc010zlt.1	-	c.2590G>T	c.(2590-2592)GGG>TGG	p.G864W		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	864	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|breast(1)|pancreas(1)	10		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)										0.328947	69.148172	71.120085	25	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227920787	227920787	3831	2	C	A	A	A	299	23	COL4A4	1	1
AGAP1	116987	broad.mit.edu	37	2	236949415	236949415	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:236949415C>G	uc002vvs.2	+	c.1821C>G	c.(1819-1821)AGC>AGG	p.S607R	AGAP1_uc002vvt.2_Missense_Mutation_p.S554R	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	607					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)	2														0.428571	72.171178	72.38825	21	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236949415	236949415	368	2	C	G	G	G	350	27	AGAP1	3	3
IQCA1	79781	broad.mit.edu	37	2	237396758	237396758	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:237396758C>A	uc002vwb.2	-	c.554G>T	c.(553-555)CGC>CTC	p.R185L	IQCA1_uc002vvz.1_Missense_Mutation_p.R178L|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.R178L	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	178							ATP binding			ovary(1)	1														0.444444	25.598678	25.646912	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237396758	237396758	8103	2	C	A	A	A	351	27	IQCA1	1	1
GALM	130589	broad.mit.edu	37	2	38903143	38903143	+	Missense_Mutation	SNP	G	A	A	rs114353506	by1000genomes	TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:38903143G>A	uc002rqy.2	+	c.280G>A	c.(280-282)GAG>AAG	p.E94K		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	94					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)												0.069565	-6.59781	15.43607	8	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38903143	38903143	6469	2	G	A	A	A	533	41	GALM	2	2
SRBD1	55133	broad.mit.edu	37	2	45800477	45800477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:45800477G>A	uc002rus.2	-	c.1174C>T	c.(1174-1176)CAG>TAG	p.Q392*		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	392					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)											0.272727	41.098114	43.660687	15	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45800477	45800477	15647	2	G	A	A	A	611	47	SRBD1	5	2
MSH2	4436	broad.mit.edu	37	2	47690198	47690198	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47690198C>T	uc002rvz.2	+	c.1415C>T	c.(1414-1416)CCT>CTT	p.P472L	MSH2_uc010yoh.1_Missense_Mutation_p.P406L|MSH2_uc002rvy.1_Missense_Mutation_p.P472L|MSH2_uc010fbg.2_Missense_Mutation_p.P282L|MSH2_uc010fbh.1_Non-coding_Transcript|MSH2_uc010fbi.1_Non-coding_Transcript	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	472					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(2)|p.R406*(1)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)							715				0.039683	-18.041595	10.75599	5	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47690198	47690198	10263	2	C	T	T	T	312	24	MSH2	2	2
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808908	48808908	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48808908G>T	uc002rwp.1	+	c.1136G>T	c.(1135-1137)GGG>GTG	p.G379V	STON1_uc002rwo.3_Missense_Mutation_p.G379V|STON1_uc010fbm.2_Missense_Mutation_p.G379V|STON1-GTF2A1L_uc010yol.1_Missense_Mutation_p.G379V|STON1_uc002rwr.2_Non-coding_Transcript|STON1_uc002rwq.2_Missense_Mutation_p.G379V	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	STON1-GTF2A1L protein	379					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex	RNA polymerase II transcription factor activity			ovary(3)|pancreas(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)											0.242991	58.493198	64.940922	26	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48808908	48808908	15837	2	G	T	T	T	559	43	STON1-GTF2A1L	2	2
NRXN1	9378	broad.mit.edu	37	2	50733693	50733693	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50733693G>T	uc010fbq.2	-	c.2557C>A	c.(2557-2559)CGT>AGT	p.R853S	NRXN1_uc002rxb.3_Missense_Mutation_p.R485S|NRXN1_uc002rxe.3_Missense_Mutation_p.R813S|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	181	Extracellular (Potential).|Laminin G-like.				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)											0.411765	42.140983	42.372751	14	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50733693	50733693	11070	2	G	T	T	T	494	38	NRXN1	1	1
ANTXR1	84168	broad.mit.edu	37	2	69298889	69298889	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69298889A>T	uc002sfg.2	+	c.382A>T	c.(382-384)AGT>TGT	p.S128C	ANTXR1_uc002sfe.2_Missense_Mutation_p.S128C|ANTXR1_uc002sff.2_Missense_Mutation_p.S128C|ANTXR1_uc002sfd.2_Missense_Mutation_p.S128C	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	128	Extracellular (Potential).|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)	2														0.287671	119.994644	125.894884	42	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69298889	69298889	719	2	A	T	T	T	91	7	ANTXR1	3	3
CYP26B1	56603	broad.mit.edu	37	2	72361919	72361919	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:72361919C>T	uc002sih.1	-	c.832G>A	c.(832-834)GGG>AGG	p.G278R	CYP26B1_uc010yra.1_Missense_Mutation_p.G261R|CYP26B1_uc010yrb.1_Missense_Mutation_p.G203R	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	278					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|oxidation-reduction process|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding				0														0.313725	48.882177	50.45659	16	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72361919	72361919	4321	2	C	T	T	T	299	23	CYP26B1	1	1
TET3	200424	broad.mit.edu	37	2	74320686	74320686	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74320686C>T	uc002skb.3	+	c.2755C>T	c.(2755-2757)CGT>TGT	p.R919C		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	919					oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.291667	39.23298	41.097622	14	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74320686	74320686	16298	2	C	T	T	T	299	23	TET3	1	1
CCDC142	84865	broad.mit.edu	37	2	74709006	74709006	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74709006T>A	uc002slr.2	-	c.959A>T	c.(958-960)AAT>ATT	p.N320I	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_Non-coding_Transcript|CCDC142_uc002slq.2_Missense_Mutation_p.N320I|CCDC142_uc002slp.2_Missense_Mutation_p.N320I	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	320										central_nervous_system(1)	1														0.330882	126.628913	130.075854	45	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74709006	74709006	2896	2	T	A	A	A	676	52	CCDC142	3	3
REG1B	5968	broad.mit.edu	37	2	79313531	79313531	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79313531C>A	uc002sny.2	-	c.283G>T	c.(283-285)GAC>TAC	p.D95Y	REG1B_uc010ffv.1_Missense_Mutation_p.D95Y|REG1B_uc010ffw.2_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	95	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)	1														0.340206	86.837368	89.030487	33	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79313531	79313531	13680	2	C	A	A	A	377	29	REG1B	2	2
THNSL2	55258	broad.mit.edu	37	2	88472749	88472749	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88472749G>T	uc002ssz.3	+	c.80G>T	c.(79-81)GGG>GTG	p.G27V	THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Missense_Mutation_p.G27V|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.G27V	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	27					threonine biosynthetic process		threonine synthase activity			ovary(1)	1														0.264901	99.324699	106.873523	40	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88472749	88472749	16391	2	G	T	T	T	559	43	THNSL2	2	2
STARD7	56910	broad.mit.edu	37	2	96853011	96853011	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96853011C>A	uc002svm.3	-	c.872G>T	c.(871-873)AGT>ATT	p.S291I	STARD7_uc002svl.2_Missense_Mutation_p.S69I	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	START domain containing 7 precursor	291	START.					mitochondrion					0														0.216667	31.449261	35.886965	13	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96853011	96853011	15781	2	C	A	A	A	260	20	STARD7	2	2
ANKRD36	375248	broad.mit.edu	37	2	97784159	97784159	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97784159G>T	uc010yva.1	+	c.391G>T	c.(391-393)GGA>TGA	p.G131*	ANKRD36_uc002sxn.2_Nonsense_Mutation_p.G131*|ANKRD36_uc010yuz.1_Non-coding_Transcript|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Nonsense_Mutation_p.G131*|ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	131	ANK 4.										0														0.114407	28.745398	63.346	27	209	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97784159	97784159	673	2	G	T	T	T	611	47	ANKRD36	5	2
EIF5B	9669	broad.mit.edu	37	2	99976702	99976702	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99976702C>T	uc002tab.2	+	c.39C>T	c.(37-39)ACC>ACT	p.T13T		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	13					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(1)|pancreas(1)	2						Colon(162;2388 2567 2705 3444)								0.181818	26.35709	32.636624	12	54	KEEP	---	---	---	---	capture		Silent	SNP	99976702	99976702	5235	2	C	T	T	T	262	21	EIF5B	2	2
ZPLD1	131368	broad.mit.edu	37	3	102181147	102181147	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:102181147T>A	uc003dvt.1	+	c.653T>A	c.(652-654)TTA>TAA	p.L218*	ZPLD1_uc003dvs.1_Nonsense_Mutation_p.L202*|ZPLD1_uc011bhg.1_Nonsense_Mutation_p.L202*	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	202	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.264706	42.915111	46.321946	18	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102181147	102181147	18825	3	T	A	A	A	793	61	ZPLD1	5	3
ARHGAP31	57514	broad.mit.edu	37	3	119133764	119133764	+	Silent	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119133764T>A	uc003ecj.3	+	c.2988T>A	c.(2986-2988)ATT>ATA	p.I996I		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	996					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.27551	69.589136	74.032417	27	71	KEEP	---	---	---	---	capture		Silent	SNP	119133764	119133764	892	3	T	A	A	A	783	61	ARHGAP31	3	3
POLQ	10721	broad.mit.edu	37	3	121208732	121208732	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121208732C>A	uc003eee.3	-	c.3046G>T	c.(3046-3048)GTT>TTT	p.V1016F	POLQ_uc003eed.2_Missense_Mutation_p.V188F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1016					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5				GBM - Glioblastoma multiforme(114;0.0915)		Pancreas(152;907 1925 26081 31236 36904)								0.289308	126.878369	133.2091	46	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121208732	121208732	12636	3	C	A	A	A	221	17	POLQ	2	2
PDIA5	10954	broad.mit.edu	37	3	122821599	122821599	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122821599G>T	uc003egc.1	+	c.343G>T	c.(343-345)GAT>TAT	p.D115Y	PDIA5_uc003egd.1_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	115					cell redox homeostasis|glycerol ether metabolic process|oxidation-reduction process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)										0.222222	17.178059	19.735912	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122821599	122821599	12092	3	G	T	T	T	533	41	PDIA5	2	2
ADCY5	111	broad.mit.edu	37	3	123167195	123167195	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123167195C>G	uc003egh.1	-	c.198G>C	c.(196-198)CAG>CAC	p.Q66H		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	66	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)										0.6	7.364042	7.396504	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123167195	123167195	298	3	C	G	G	G	363	28	ADCY5	3	3
ZNF148	7707	broad.mit.edu	37	3	124952110	124952110	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124952110T>A	uc003ehx.3	-	c.1460A>T	c.(1459-1461)TAT>TTT	p.Y487F	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.Y487F|ZNF148_uc010hsa.2_Missense_Mutation_p.Y487F|ZNF148_uc003eia.3_Missense_Mutation_p.Y487F|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	487					cellular defense response|negative regulation of transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|specific RNA polymerase II transcription factor activity|transcription repressor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.242938	111.250756	121.905917	43	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124952110	124952110	18325	3	T	A	A	A	637	49	ZNF148	3	3
NEK11	79858	broad.mit.edu	37	3	130884364	130884364	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130884364G>T	uc003eny.2	+	c.1176_splice	c.e12+1	p.H392_splice	NEK11_uc003enx.2_Splice_Site_SNP_p.H392_splice|NEK11_uc003eoa.2_Splice_Site_SNP_p.H392_splice|NEK11_uc003enz.2_Splice_Site_SNP_p.H210_splice|NEK11_uc010htn.2_Splice_Site_SNP|NEK11_uc011blk.1_Splice_Site_SNP_p.H244_splice|NEK11_uc011bll.1_Splice_Site_SNP_p.H287_splice|NEK11_uc011blm.1_Splice_Site_SNP_p.H392_splice	NM_024800	NP_079076			NIMA-related kinase 11 isoform 1						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade|protein phosphorylation	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|central_nervous_system(1)	5										271				0.208333	23.51954	27.305376	10	38	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	130884364	130884364	10722	3	G	T	T	T	624	48	NEK11	5	2
EPHB1	2047	broad.mit.edu	37	3	134920490	134920490	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134920490C>A	uc003eqt.2	+	c.2305C>A	c.(2305-2307)CTC>ATC	p.L769I	EPHB1_uc003equ.2_Missense_Mutation_p.L330I	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	769	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.094737	3.796146	19.473307	9	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134920490	134920490	5367	3	C	A	A	A	312	24	EPHB1	2	2
PIK3CB	5291	broad.mit.edu	37	3	138478125	138478125	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138478125C>G	uc011bmq.1	-	c.61G>C	c.(61-63)GAT>CAT	p.D21H		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	21					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			ovary(1)|skin(1)	2										330				0.329412	93.169846	95.363169	28	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138478125	138478125	12338	3	C	G	G	G	390	30	PIK3CB	3	3
TRIM42	287015	broad.mit.edu	37	3	140397351	140397351	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140397351C>T	uc003eto.1	+	c.280C>T	c.(280-282)CGC>TGC	p.R94C		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	94	Cys-rich.					intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.464286	41.473578	41.504539	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140397351	140397351	17061	3	C	T	T	T	299	23	TRIM42	1	1
GK5	256356	broad.mit.edu	37	3	141904809	141904809	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141904809C>A	uc003euq.1	-	c.778G>T	c.(778-780)GAA>TAA	p.E260*	GK5_uc003eup.1_5'Flank|GK5_uc010hus.1_Non-coding_Transcript	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	260					glycerol metabolic process		ATP binding|glycerol kinase activity				0														0.212121	46.114413	53.703747	21	78	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	141904809	141904809	6690	3	C	A	A	A	377	29	GK5	5	2
P2RY12	64805	broad.mit.edu	37	3	151056021	151056021	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151056021C>A	uc003eyw.1	-	c.613G>T	c.(613-615)GTT>TTT	p.V205F	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.V205F	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	205	Helical; Name=5; (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)									0.234783	70.561819	77.964542	27	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151056021	151056021	11762	3	C	A	A	A	221	17	P2RY12	2	2
MLF1	4291	broad.mit.edu	37	3	158317887	158317887	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:158317887C>T	uc003fcc.2	+	c.586C>T	c.(586-588)CAT>TAT	p.H196Y	MLF1_uc003fbz.2_Missense_Mutation_p.H140Y|MLF1_uc003fca.2_Missense_Mutation_p.H140Y|MLF1_uc003fcb.2_Missense_Mutation_p.H165Y|MLF1_uc003fbx.2_Missense_Mutation_p.H155Y|MLF1_uc003fby.2_Missense_Mutation_p.H91Y|MLF1_uc010hvx.2_Missense_Mutation_p.H97Y	NM_001130157	NP_001123629	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 2	165					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)							351				0.610063	301.592747	303.276132	97	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158317887	158317887	10004	3	C	T	T	T	377	29	MLF1	2	2
SI	6476	broad.mit.edu	37	3	164724627	164724627	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164724627C>A	uc003fei.2	-	c.4383G>T	c.(4381-4383)TGG>TGT	p.W1461C		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1461	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.157895	22.547917	31.033055	12	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164724627	164724627	14792	3	C	A	A	A	234	18	SI	2	2
SI	6476	broad.mit.edu	37	3	164755795	164755795	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164755795C>A	uc003fei.2	-	c.2319G>T	c.(2317-2319)TGG>TGT	p.W773C		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	773	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.43956	115.684976	115.974862	40	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164755795	164755795	14792	3	C	A	A	A	390	30	SI	2	2
SI	6476	broad.mit.edu	37	3	164783080	164783080	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164783080G>T	uc003fei.2	-	c.776C>A	c.(775-777)CCA>CAA	p.P259Q		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	259	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.198198	49.683892	59.097773	22	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164783080	164783080	14792	3	G	T	T	T	611	47	SI	2	2
SLITRK3	22865	broad.mit.edu	37	3	164907248	164907248	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164907248G>T	uc003fej.3	-	c.1371C>A	c.(1369-1371)AAC>AAA	p.N457K	SLITRK3_uc003fek.2_Missense_Mutation_p.N457K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	457	LRR 9.|Extracellular (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.391304	108.676662	109.62959	36	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164907248	164907248	15242	3	G	T	T	T	464	36	SLITRK3	2	2
CCDC39	339829	broad.mit.edu	37	3	180381775	180381775	+	Splice_Site_SNP	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180381775C>A	uc010hxe.2	-	c.91_splice	c.e2-1	p.L31_splice	CCDC39_uc003fkn.2_Splice_Site_SNP	NM_181426	NP_852091			coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.168675	25.892677	34.525703	14	69	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	180381775	180381775	2933	3	C	A	A	A	260	20	CCDC39	5	2
IL1RAP	3556	broad.mit.edu	37	3	190345227	190345227	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:190345227C>T	uc003fsq.2	+	c.891C>T	c.(889-891)ACC>ACT	p.T297T	IL1RAP_uc003fsk.2_Silent_p.T297T|IL1RAP_uc003fsl.2_Silent_p.T297T|IL1RAP_uc010hzf.2_Silent_p.T156T|IL1RAP_uc003fsm.1_Silent_p.T297T|IL1RAP_uc010hzg.1_Silent_p.T297T|IL1RAP_uc003fsn.1_Non-coding_Transcript|IL1RAP_uc003fso.1_Silent_p.T297T|IL1RAP_uc003fsp.1_Non-coding_Transcript	NM_134470	NP_608273	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	297	Extracellular (Potential).|Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)						227				0.125	16.165836	31.562486	14	98	KEEP	---	---	---	---	capture		Silent	SNP	190345227	190345227	7961	3	C	T	T	T	262	21	IL1RAP	2	2
RPL15	6138	broad.mit.edu	37	3	23960910	23960910	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:23960910A>G	uc003ccn.2	+	c.533A>G	c.(532-534)CAC>CGC	p.H178R	NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_3'UTR|RPL15_uc011awj.1_Silent_p.P122P|RPL15_uc003cco.2_Intron|RPL15_uc003ccp.2_Missense_Mutation_p.H178R|RPL15_uc003ccq.2_Missense_Mutation_p.H178R|RPL15_uc003ccr.2_Missense_Mutation_p.H178R	NM_002948	NP_002939	P61313	RL15_HUMAN	ribosomal protein L15	178					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			ovary(1)	1														0.533333	83.901628	83.945189	24	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23960910	23960910	14041	3	A	G	G	G	78	6	RPL15	4	4
DOCK3	1795	broad.mit.edu	37	3	51284221	51284221	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51284221A>T	uc011bds.1	+	c.2167A>T	c.(2167-2169)ATT>TTT	p.I723F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	723						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)						1034				0.5	33.850619	33.850619	10	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51284221	51284221	4872	3	A	T	T	T	104	8	DOCK3	3	3
CACNA2D3	55799	broad.mit.edu	37	3	55107852	55107852	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:55107852G>A	uc003dhf.2	+	c.3149G>A	c.(3148-3150)AGG>AAG	p.R1050K		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	1050	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)										0.592593	56.605015	56.807131	16	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55107852	55107852	2666	3	G	A	A	A	455	35	CACNA2D3	2	2
LHFPL4	375323	broad.mit.edu	37	3	9594086	9594086	+	Missense_Mutation	SNP	T	C	C	rs76516178		TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9594086T>C	uc003bry.2	-	c.278A>G	c.(277-279)AAG>AGG	p.K93R		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	93						integral to membrane				ovary(2)	2	Medulloblastoma(99;0.227)													0.525424	109.917377	109.950051	31	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9594086	9594086	9093	3	T	C	C	C	728	56	LHFPL4	4	4
C3orf26	84319	broad.mit.edu	37	3	99891162	99891162	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:99891162C>T	uc003dtl.2	+	c.582C>T	c.(580-582)GTC>GTT	p.V194V		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	194							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1														0.411765	85.487812	85.950182	28	40	KEEP	---	---	---	---	capture		Silent	SNP	99891162	99891162	2311	3	C	T	T	T	379	30	C3orf26	2	2
ADH6	130	broad.mit.edu	37	4	100126133	100126133	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100126133A>T	uc003huo.2	-	c.1052T>A	c.(1051-1053)CTG>CAG	p.L351Q	ADH6_uc011cef.1_Missense_Mutation_p.L142Q|ADH6_uc003hup.3_Missense_Mutation_p.L351Q|ADH6_uc010ile.2_3'UTR	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 1	351					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)									0.33908	180.075992	184.057617	59	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100126133	100126133	313	4	A	T	T	T	91	7	ADH6	3	3
SLC2A9	56606	broad.mit.edu	37	4	10022985	10022985	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:10022985G>A	uc003gmc.2	-	c.69C>T	c.(67-69)CAC>CAT	p.H23H	SLC2A9_uc003gmd.2_Intron	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	23	Cytoplasmic (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3														0.09589	3.27167	15.229187	7	66	KEEP	---	---	---	---	capture		Silent	SNP	10022985	10022985	15049	4	G	A	A	A	516	40	SLC2A9	1	1
TACR3	6870	broad.mit.edu	37	4	104510895	104510895	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104510895A>T	uc003hxe.1	-	c.1342T>A	c.(1342-1344)TCC>ACC	p.S448T		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	448	Cytoplasmic (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)										0.122807	21.076216	44.794181	21	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104510895	104510895	16028	4	A	T	T	T	143	11	TACR3	3	3
C4orf21	55345	broad.mit.edu	37	4	113541292	113541292	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113541292C>A	uc003iau.2	-	c.217G>T	c.(217-219)GTT>TTT	p.V73F	C4orf21_uc003iaw.2_Missense_Mutation_p.V73F	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)										0.294737	75.898424	79.459407	28	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113541292	113541292	2349	4	C	A	A	A	234	18	C4orf21	2	2
ANK2	287	broad.mit.edu	37	4	114257162	114257162	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114257162G>C	uc003ibe.3	+	c.3540G>C	c.(3538-3540)CAG>CAC	p.Q1180H	ANK2_uc003ibd.3_Missense_Mutation_p.Q1171H|ANK2_uc003ibf.3_Missense_Mutation_p.Q1180H|ANK2_uc011cgc.1_Missense_Mutation_p.Q356H|ANK2_uc003ibg.3_Missense_Mutation_p.Q175H|ANK2_uc003ibc.2_Missense_Mutation_p.Q1156H|ANK2_uc011cgb.1_Missense_Mutation_p.Q1195H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1147					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.056911	-13.756986	12.055282	7	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114257162	114257162	624	4	G	C	C	C	451	35	ANK2	3	3
PCDH18	54510	broad.mit.edu	37	4	138452894	138452894	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138452894G>A	uc003ihe.3	-	c.349C>T	c.(349-351)CAT>TAT	p.H117Y	PCDH18_uc003ihf.3_Missense_Mutation_p.H110Y|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	117	Extracellular (Potential).|Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.092511	4.103973	42.052327	21	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138452894	138452894	11933	4	G	A	A	A	598	46	PCDH18	2	2
TBC1D9	23158	broad.mit.edu	37	4	141555141	141555141	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:141555141C>A	uc010ioj.2	-	c.2707G>T	c.(2707-2709)GAC>TAC	p.D903Y		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	903	EF-hand.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)												0.268293	27.809212	29.794836	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141555141	141555141	16153	4	C	A	A	A	416	32	TBC1D9	2	2
SH3D19	152503	broad.mit.edu	37	4	152043243	152043243	+	Nonstop_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:152043243C>A	uc010ipl.1	-	c.2373G>T	c.(2371-2373)TAG>TAT	p.*791Y	SH3D19_uc003imb.2_Nonstop_Mutation_p.*546Y|SH3D19_uc003imc.2_Nonstop_Mutation_p.*732Y|SH3D19_uc003ime.2_Nonstop_Mutation_p.*768Y|SH3D19_uc010ipm.2_Nonstop_Mutation_p.*768Y	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	791					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)	1	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)												0.424837	184.033371	184.790724	65	88	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	152043243	152043243	14740	4	C	A	A	A	415	32	SH3D19	5	2
GUCY1B3	2983	broad.mit.edu	37	4	156698768	156698768	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156698768G>T	uc011cio.1	+	c.271G>T	c.(271-273)GGC>TGC	p.G91C	GUCY1B3_uc003ipc.2_Missense_Mutation_p.G91C|GUCY1B3_uc011cip.1_Missense_Mutation_p.G71C|GUCY1B3_uc003ipd.2_Missense_Mutation_p.G19C|GUCY1B3_uc010iqf.2_Missense_Mutation_p.G91C|GUCY1B3_uc010iqg.2_Missense_Mutation_p.G19C|GUCY1B3_uc011ciq.1_Missense_Mutation_p.G19C	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	91					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)										0.217105	75.39051	86.610477	33	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156698768	156698768	7175	4	G	T	T	T	559	43	GUCY1B3	2	2
GUCY1B3	2983	broad.mit.edu	37	4	156715006	156715006	+	Splice_Site_SNP	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156715006A>T	uc011cio.1	+	c.562_splice	c.e7-2	p.V188_splice	GUCY1B3_uc003ipc.2_Splice_Site_SNP_p.V166_splice|GUCY1B3_uc011cip.1_Splice_Site_SNP_p.V146_splice|GUCY1B3_uc003ipd.2_Splice_Site_SNP_p.V94_splice|GUCY1B3_uc010iqf.2_Splice_Site_SNP_p.V166_splice|GUCY1B3_uc010iqg.2_Splice_Site_SNP_p.V94_splice|GUCY1B3_uc011ciq.1_Splice_Site_SNP_p.V94_splice	NM_000857	NP_000848			guanylate cyclase 1, soluble, beta 3						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)										0.215686	28.198172	32.001427	11	40	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	156715006	156715006	7175	4	A	T	T	T	91	7	GUCY1B3	5	3
TMEM144	55314	broad.mit.edu	37	4	159158782	159158782	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159158782G>T	uc003ipx.2	+	c.669G>T	c.(667-669)GGG>GGT	p.G223G	TMEM144_uc010iqi.2_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	223						integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)										0.357143	21.831458	22.338978	10	18	KEEP	---	---	---	---	capture		Silent	SNP	159158782	159158782	16590	4	G	T	T	T	548	43	TMEM144	2	2
RXFP1	59350	broad.mit.edu	37	4	159538291	159538291	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159538291T>C	uc011cje.1	+	c.770T>C	c.(769-771)ATG>ACG	p.M257T	RXFP1_uc010iqj.1_Missense_Mutation_p.M59T|RXFP1_uc003ipz.2_Missense_Mutation_p.M230T|RXFP1_uc011cja.1_Missense_Mutation_p.M149T|RXFP1_uc010iqo.2_Missense_Mutation_p.M230T|RXFP1_uc011cjb.1_Missense_Mutation_p.M176T|RXFP1_uc010iqk.2_Missense_Mutation_p.M98T|RXFP1_uc011cjc.1_Missense_Mutation_p.M149T|RXFP1_uc011cjd.1_Missense_Mutation_p.M149T|RXFP1_uc010iql.2_Missense_Mutation_p.M98T|RXFP1_uc010iqm.2_Missense_Mutation_p.M197T|RXFP1_uc011cjf.1_Missense_Mutation_p.M100T|RXFP1_uc010iqn.2_Missense_Mutation_p.M176T	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	230	Extracellular (Potential).|LRR 4.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)										0.179104	54.320294	67.304015	24	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159538291	159538291	14239	4	T	C	C	C	663	51	RXFP1	4	4
FSTL5	56884	broad.mit.edu	37	4	162307510	162307510	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162307510A>T	uc003iqh.2	-	c.1933T>A	c.(1933-1935)TAT>AAT	p.Y645N	FSTL5_uc003iqi.2_Missense_Mutation_p.Y644N|FSTL5_uc010iqv.2_Missense_Mutation_p.Y635N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	645						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.242857	42.341087	46.56024	17	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162307510	162307510	6331	4	A	T	T	T	195	15	FSTL5	3	3
NPY5R	4889	broad.mit.edu	37	4	164272217	164272217	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164272217G>T	uc003iqn.2	+	c.792G>T	c.(790-792)AAG>AAT	p.K264N		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	264	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane					0	all_hematologic(180;0.166)	Prostate(90;0.109)				Melanoma(139;1287 1774 9781 19750 25599)								0.151515	22.554937	34.077	15	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164272217	164272217	11015	4	G	T	T	T	425	33	NPY5R	2	2
GPM6A	2823	broad.mit.edu	37	4	176561919	176561919	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:176561919C>A	uc003iuf.2	-	c.603G>T	c.(601-603)ATG>ATT	p.M201I	GPM6A_uc011ckj.1_Missense_Mutation_p.M194I|GPM6A_uc003iug.2_Missense_Mutation_p.M201I|GPM6A_uc003iuh.2_Missense_Mutation_p.M190I	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	201	Extracellular (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)										0.205882	35.635923	41.072112	14	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176561919	176561919	6889	4	C	A	A	A	221	17	GPM6A	2	2
ODZ3	55714	broad.mit.edu	37	4	183675777	183675777	+	Silent	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183675777T>A	uc003ivd.1	+	c.4257T>A	c.(4255-4257)ACT>ACA	p.T1419T	ODZ3_uc003ive.1_Silent_p.T832T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1419	Extracellular (Potential).|NHL 4.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.265306	34.051614	36.491495	13	36	KEEP	---	---	---	---	capture		Silent	SNP	183675777	183675777	11241	4	T	A	A	A	704	55	ODZ3	3	3
TUBB4Q	56604	broad.mit.edu	37	4	190903801	190903801	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:190903801G>T	uc011clg.1	-	c.1179C>A	c.(1177-1179)CTC>CTA	p.L393L		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	394					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)										0.368132	175.266441	178.052058	67	115	KEEP	---	---	---	---	capture		Silent	SNP	190903801	190903801	17314	4	G	T	T	T	522	41	TUBB4Q	2	2
KCTD8	386617	broad.mit.edu	37	4	44177089	44177089	+	Silent	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44177089T>A	uc003gwu.2	-	c.1140A>T	c.(1138-1140)ACA>ACT	p.T380T		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	380						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3														0.51497	280.656529	280.689227	86	81	KEEP	---	---	---	---	capture		Silent	SNP	44177089	44177089	8421	4	T	A	A	A	704	55	KCTD8	3	3
DCUN1D4	23142	broad.mit.edu	37	4	52740465	52740465	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52740465C>G	uc011bzo.1	+	c.297C>G	c.(295-297)GAC>GAG	p.D99E	DCUN1D4_uc003gze.2_Missense_Mutation_p.D55E|DCUN1D4_uc003gzf.2_Missense_Mutation_p.D55E|DCUN1D4_uc011bzn.1_5'UTR|DCUN1D4_uc003gzg.2_Non-coding_Transcript|DCUN1D4_uc003gzh.2_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	55										ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)											0.037037	-18.040293	13.300092	5	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52740465	52740465	4487	4	C	G	G	G	259	20	DCUN1D4	3	3
KDR	3791	broad.mit.edu	37	4	55979578	55979578	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55979578C>A	uc003has.2	-	c.869G>T	c.(868-870)AGC>ATC	p.S290I	KDR_uc003hat.1_Missense_Mutation_p.S290I|KDR_uc011bzx.1_Missense_Mutation_p.S290I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	290	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.172185	48.647957	63.990002	26	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55979578	55979578	8445	4	C	A	A	A	364	28	KDR	2	2
POLR2B	5431	broad.mit.edu	37	4	57857037	57857037	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57857037G>A	uc003hcl.1	+	c.216G>A	c.(214-216)CAG>CAA	p.Q72Q	POLR2B_uc011cae.1_Silent_p.Q65Q|POLR2B_uc011caf.1_Intron	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	72					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)													0.21519	38.428538	44.346231	17	62	KEEP	---	---	---	---	capture		Silent	SNP	57857037	57857037	12643	4	G	A	A	A	438	34	POLR2B	2	2
UGT2B4	7363	broad.mit.edu	37	4	70346380	70346380	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70346380C>A	uc003hek.3	-	c.1559G>T	c.(1558-1560)AGA>ATA	p.R520I	UGT2B4_uc011cap.1_Missense_Mutation_p.R384I|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	520					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.437908	187.978442	188.496392	67	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70346380	70346380	17519	4	C	A	A	A	416	32	UGT2B4	2	2
ADAMTS3	9508	broad.mit.edu	37	4	73205255	73205255	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73205255C>A	uc003hgk.1	-	c.817G>T	c.(817-819)GGC>TGC	p.G273C		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	273	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			NSCLC(168;1941 2048 2918 13048 43078)								0.035948	-103.34278	39.700843	22	590	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73205255	73205255	268	4	C	A	A	A	273	21	ADAMTS3	2	2
EREG	2069	broad.mit.edu	37	4	75246782	75246782	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:75246782G>T	uc003hie.1	+	c.206G>T	c.(205-207)AGC>ATC	p.S69I	EREG_uc003hid.2_Missense_Mutation_p.S63I	NM_001432	NP_001423	O14944	EREG_HUMAN	epiregulin preproprotein	69	Extracellular (Potential).|EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)	1			Lung(101;0.196)											0.165094	64.689269	87.260199	35	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75246782	75246782	5413	4	G	T	T	T	442	34	EREG	2	2
PPEF2	5470	broad.mit.edu	37	4	76797493	76797493	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76797493C>T	uc003hix.2	-	c.1267G>A	c.(1267-1269)GCA>ACA	p.A423T	PPEF2_uc003hiy.2_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.A423T	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	423	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			NSCLC(105;1359 1603 15961 44567 47947)								0.26087	61.250383	66.018413	24	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76797493	76797493	12738	4	C	T	T	T	364	28	PPEF2	2	2
SORCS2	57537	broad.mit.edu	37	4	7728561	7728561	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:7728561G>T	uc003gkb.3	+	c.2800G>T	c.(2800-2802)GTG>TTG	p.V934L	SORCS2_uc011bwi.1_Missense_Mutation_p.V762L	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	934	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2														0.613861	207.659187	208.804415	62	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7728561	7728561	15431	4	G	T	T	T	520	40	SORCS2	1	1
NKX6-1	4825	broad.mit.edu	37	4	85416934	85416934	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85416934C>A	uc003hpa.1	-	c.734G>T	c.(733-735)GGA>GTA	p.G245V		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	245	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)										0.377778	140.087855	141.858868	51	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85416934	85416934	10860	4	C	A	A	A	390	30	NKX6-1	2	2
MMRN1	22915	broad.mit.edu	37	4	90856970	90856970	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90856970A>T	uc003hst.2	+	c.2139A>T	c.(2137-2139)TTA>TTT	p.L713F	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.L455F	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	713	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)										0.208333	45.345733	52.910295	20	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90856970	90856970	10061	4	A	T	T	T	193	15	MMRN1	3	3
GRID2	2895	broad.mit.edu	37	4	94137928	94137928	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94137928T>C	uc011cdt.1	+	c.829T>C	c.(829-831)TCA>CCA	p.S277P	GRID2_uc010ikx.2_Missense_Mutation_p.S277P|GRID2_uc011cdu.1_Missense_Mutation_p.S182P|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	277	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.376682	285.854066	288.827226	84	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94137928	94137928	7050	4	T	C	C	C	754	58	GRID2	4	4
PDHA2	5161	broad.mit.edu	37	4	96761804	96761804	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96761804A>G	uc003htr.3	+	c.503A>G	c.(502-504)CAG>CGG	p.Q168R		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	168					glycolysis|oxidation-reduction process	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)									0.188525	51.054093	62.135411	23	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96761804	96761804	12086	4	A	G	G	G	91	7	PDHA2	4	4
RAP1GDS1	5910	broad.mit.edu	37	4	99339942	99339942	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:99339942G>T	uc003htw.3	+	c.1177G>T	c.(1177-1179)GTT>TTT	p.V393F	RAP1GDS1_uc003htx.3_Missense_Mutation_p.V392F|RAP1GDS1_uc003htv.3_Missense_Mutation_p.V393F|RAP1GDS1_uc003htz.3_Missense_Mutation_p.V343F|RAP1GDS1_uc003hty.3_Missense_Mutation_p.V344F|RAP1GDS1_uc003hua.3_Missense_Mutation_p.V301F	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	392	ARM 4.						binding|GTPase activator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)						187				0.205128	17.976832	21.123362	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99339942	99339942	13499	4	G	T	T	T	455	35	RAP1GDS1	2	2
CTNND2	1501	broad.mit.edu	37	5	11385018	11385018	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11385018G>T	uc003jfa.1	-	c.936C>A	c.(934-936)AGC>AGA	p.S312R	CTNND2_uc010itt.2_Missense_Mutation_p.S221R|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	312					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.12	3.61257	7.149655	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11385018	11385018	4179	5	G	T	T	T	594	46	CTNND2	2	2
SEMA6A	57556	broad.mit.edu	37	5	115831129	115831129	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115831129G>T	uc003krx.3	-	c.424C>A	c.(424-426)CCT>ACT	p.P142T	SEMA6A_uc010jck.2_Missense_Mutation_p.P142T	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	142	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)										0.285714	10.993917	11.570956	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115831129	115831129	14525	5	G	T	T	T	559	43	SEMA6A	2	2
DMXL1	1657	broad.mit.edu	37	5	118485771	118485771	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118485771G>T	uc010jcl.1	+	c.4249G>T	c.(4249-4251)GAT>TAT	p.D1417Y	DMXL1_uc003ksd.2_Missense_Mutation_p.D1417Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1417										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)										0.2	53.395766	63.865833	25	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118485771	118485771	4776	5	G	T	T	T	585	45	DMXL1	2	2
SLC6A18	348932	broad.mit.edu	37	5	1246128	1246128	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1246128G>C	uc003jby.1	+	c.1822G>C	c.(1822-1824)GAC>CAC	p.D608H		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	608	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)											0.25	17.338093	18.701712	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1246128	1246128	15178	5	G	C	C	C	533	41	SLC6A18	3	3
TRPC7	57113	broad.mit.edu	37	5	135583167	135583167	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135583167C>A	uc003lbn.1	-	c.1833G>T	c.(1831-1833)GCG>GCT	p.A611A	TRPC7_uc010jef.1_Silent_p.A548A|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Silent_p.A542A|TRPC7_uc010jei.1_Silent_p.A487A|TRPC7_uc010jej.1_Silent_p.A163A	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	612	Extracellular (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.122449	8.313674	15.153242	6	43	KEEP	---	---	---	---	capture		Silent	SNP	135583167	135583167	17135	5	C	A	A	A	236	19	TRPC7	1	1
PCDHA11	56138	broad.mit.edu	37	5	140250004	140250004	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140250004G>C	uc003lia.2	+	c.1316G>C	c.(1315-1317)AGG>ACG	p.R439T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R439T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	439	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.513699	227.422093	227.447561	75	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140250004	140250004	11941	5	G	C	C	C	455	35	PCDHA11	3	3
PCDHB7	56129	broad.mit.edu	37	5	140553859	140553859	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140553859C>A	uc003lit.2	+	c.1443C>A	c.(1441-1443)GGC>GGA	p.G481G		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	481	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.507042	106.222082	106.225834	36	35	KEEP	---	---	---	---	capture		Silent	SNP	140553859	140553859	11967	5	C	A	A	A	314	25	PCDHB7	2	2
PCDHGA1	56114	broad.mit.edu	37	5	140711869	140711869	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140711869C>A	uc003lji.1	+	c.1618C>A	c.(1618-1620)CCG>ACG	p.P540T	PCDHGA1_uc011dan.1_Missense_Mutation_p.P540T	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	540	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.479675	303.257192	303.348524	118	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140711869	140711869	11970	5	C	A	A	A	390	30	PCDHGA1	2	2
PCDHGA3	56112	broad.mit.edu	37	5	140725651	140725651	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140725651C>A	uc003ljm.1	+	c.2051C>A	c.(2050-2052)CCC>CAC	p.P684H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.P444H|PCDHGA3_uc011dap.1_Missense_Mutation_p.P684H	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	684	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.491228	82.289978	82.293966	28	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140725651	140725651	11975	5	C	A	A	A	286	22	PCDHGA3	2	2
PCDHGA4	56111	broad.mit.edu	37	5	140736053	140736053	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140736053C>A	uc003ljq.1	+	c.1286C>A	c.(1285-1287)ACT>AAT	p.T429N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.T429N	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	429	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.463415	60.516283	60.564471	19	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140736053	140736053	11976	5	C	A	A	A	260	20	PCDHGA4	2	2
PDE6A	5145	broad.mit.edu	37	5	149245776	149245776	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149245776A>T	uc003lrg.3	-	c.2315T>A	c.(2314-2316)CTT>CAT	p.L772H		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	772					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)											0.262295	40.375719	43.491785	16	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149245776	149245776	12066	5	A	T	T	T	39	3	PDE6A	3	3
GABRA6	2559	broad.mit.edu	37	5	161117334	161117334	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161117334G>T	uc003lyu.2	+	c.801G>T	c.(799-801)GAG>GAT	p.E267D	GABRA6_uc003lyv.2_Missense_Mutation_p.E38D	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	267					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.048485	-19.649433	16.124774	8	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161117334	161117334	6416	5	G	T	T	T	464	36	GABRA6	2	2
UBTD2	92181	broad.mit.edu	37	5	171639032	171639033	+	Missense_Mutation	DNP	GC	TG	TG			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:171639032_171639033GC>TG	uc003mbp.1	-	c.506_507GC>CA	c.(505-507)CGC>CCA	p.R169P		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	dendritic cell-derived ubiquitin-like protein	169	Ubiquitin-like.					cytoplasm					0	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.530769	212.774629	212.881146	69	61	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	171639032	171639033	17466	5	GC	TG	TG	TG	587	46	UBTD2	2	2
CDH18	1016	broad.mit.edu	37	5	19747198	19747198	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19747198G>A	uc003jgc.2	-	c.376C>T	c.(376-378)CTT>TTT	p.L126F	CDH18_uc003jgd.2_Missense_Mutation_p.L126F|CDH18_uc011cnm.1_Missense_Mutation_p.L126F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	126	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.069204	-10.444594	44.988224	20	269	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19747198	19747198	3232	5	G	A	A	A	442	34	CDH18	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33683200	33683200	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33683200C>A	uc003jia.1	-	c.838G>T	c.(838-840)GGG>TGG	p.G280W	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G280W	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	280	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.278689	86.969451	92.366135	34	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33683200	33683200	258	5	C	A	A	A	273	21	ADAMTS12	2	2
RANBP3L	202151	broad.mit.edu	37	5	36271399	36271399	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36271399C>G	uc011cow.1	-	c.106G>C	c.(106-108)GCT>CCT	p.A36P	RANBP3L_uc003jkh.2_Missense_Mutation_p.A36P	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 1	36					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)											0.515152	63.776515	63.783087	17	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36271399	36271399	13490	5	C	G	G	G	325	25	RANBP3L	3	3
ADAMTS16	170690	broad.mit.edu	37	5	5191879	5191880	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5191879_5191880CC>AA	uc003jdl.2	+	c.1289_1290CC>AA	c.(1288-1290)ACC>AAA	p.T430K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.T430K|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T430K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	430	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.103704	12.347743	33.4547	14	121	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	5191879	5191880	262	5	CC	AA	AA	AA	234	18	ADAMTS16	2	2
FAM169A	26049	broad.mit.edu	37	5	74096754	74096754	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74096754C>A	uc003kdm.2	-	c.1054G>T	c.(1054-1056)GGT>TGT	p.G352C	FAM169A_uc010izm.2_Missense_Mutation_p.G292C|FAM169A_uc003kdl.2_Missense_Mutation_p.G170C	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	352											0														0.519481	249.898728	249.949153	80	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74096754	74096754	5691	5	C	A	A	A	312	24	FAM169A	2	2
RASGRF2	5924	broad.mit.edu	37	5	80408616	80408616	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80408616G>A	uc003kha.1	+	c.2026G>A	c.(2026-2028)GCT>ACT	p.A676T	RASGRF2_uc011ctn.1_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	676	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)						847				0.177914	53.771276	69.700415	29	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80408616	80408616	13534	5	G	A	A	A	494	38	RASGRF2	1	1
ARRDC3	57561	broad.mit.edu	37	5	90670930	90670930	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:90670930C>T	uc003kjz.2	-	c.679G>A	c.(679-681)GCC>ACC	p.A227T		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	227					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)										0.554054	132.477969	132.665511	41	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90670930	90670930	1002	5	C	T	T	T	364	28	ARRDC3	2	2
MCTP1	79772	broad.mit.edu	37	5	94253649	94253649	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:94253649C>T	uc003kkx.2	-	c.1302G>A	c.(1300-1302)CTG>CTA	p.L434L	MCTP1_uc003kkv.2_Silent_p.L213L|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Silent_p.L95L|MCTP1_uc003kku.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	434					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)										0.34375	25.657589	26.374586	11	21	KEEP	---	---	---	---	capture		Silent	SNP	94253649	94253649	9789	5	C	T	T	T	262	21	MCTP1	2	2
SEC63	11231	broad.mit.edu	37	6	108214748	108214748	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108214748G>C	uc003psc.3	-	c.1612C>G	c.(1612-1614)CCT>GCT	p.P538A	SEC63_uc003psb.3_Missense_Mutation_p.P398A	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	538	SEC63 1.|Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)										0.18595	116.826644	139.197485	45	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108214748	108214748	14491	6	G	C	C	C	572	44	SEC63	3	3
GCM2	9247	broad.mit.edu	37	6	10874376	10874376	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:10874376C>A	uc003mzn.3	-	c.1373G>T	c.(1372-1374)AGA>ATA	p.R458I	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	458					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)												0.102041	2.034613	9.781392	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10874376	10874376	6564	6	C	A	A	A	416	32	GCM2	2	2
GPRC6A	222545	broad.mit.edu	37	6	117127557	117127557	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117127557G>T	uc003pxj.1	-	c.1311C>A	c.(1309-1311)AAC>AAA	p.N437K	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.N437K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	437	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)										0.177778	31.546624	40.346388	16	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117127557	117127557	7004	6	G	T	T	T	568	44	GPRC6A	2	2
TRDN	10345	broad.mit.edu	37	6	123673692	123673692	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123673692A>T	uc003pzj.1	-	c.1361T>A	c.(1360-1362)GTG>GAG	p.V454E	TRDN_uc003pzk.1_Missense_Mutation_p.V455E|TRDN_uc003pzl.1_Missense_Mutation_p.V455E|TRDN_uc010kem.1_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	454	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)										0.140351	14.780172	21.881368	8	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123673692	123673692	17012	6	A	T	T	T	78	6	TRDN	3	3
RSPO3	84870	broad.mit.edu	37	6	127517001	127517001	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:127517001C>A	uc003qas.1	+	c.668C>A	c.(667-669)CCT>CAT	p.P223H	RSPO3_uc003qar.2_Missense_Mutation_p.P223H	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	223						extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)										0.235294	9.590554	10.680552	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127517001	127517001	14191	6	C	A	A	A	312	24	RSPO3	2	2
AHI1	54806	broad.mit.edu	37	6	135778795	135778795	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:135778795C>A	uc003qgi.2	-	c.988G>T	c.(988-990)GAT>TAT	p.D330Y	AHI1_uc003qgh.2_Missense_Mutation_p.D330Y|AHI1_uc003qgj.2_Missense_Mutation_p.D330Y|AHI1_uc003qgk.3_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.D330Y	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	330						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)										0.162791	46.773456	65.387285	28	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135778795	135778795	416	6	C	A	A	A	416	32	AHI1	2	2
BCLAF1	9774	broad.mit.edu	37	6	136599805	136599805	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136599805C>A	uc003qgx.1	-	c.214G>T	c.(214-216)GGG>TGG	p.G72W	BCLAF1_uc003qgw.1_Missense_Mutation_p.G72W|BCLAF1_uc003qgy.1_Missense_Mutation_p.G70W|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G70W	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	72					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.139073	29.624791	48.734668	21	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136599805	136599805	1404	6	C	A	A	A	273	21	BCLAF1	2	2
TIAM2	26230	broad.mit.edu	37	6	155532427	155532427	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155532427G>C	uc003qqb.2	+	c.3154G>C	c.(3154-3156)GAG>CAG	p.E1052Q	TIAM2_uc003qqe.2_Missense_Mutation_p.E1052Q|TIAM2_uc010kjj.2_Missense_Mutation_p.E585Q|TIAM2_uc003qqf.2_Missense_Mutation_p.E428Q|TIAM2_uc011efl.1_Missense_Mutation_p.E388Q|TIAM2_uc003qqg.2_Missense_Mutation_p.E364Q	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1052					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)										0.305556	37.31215	38.525698	11	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155532427	155532427	16419	6	G	C	C	C	533	41	TIAM2	3	3
HIST1H1D	3007	broad.mit.edu	37	6	26234700	26234700	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26234700C>A	uc003nhd.2	-	c.462G>T	c.(460-462)AAG>AAT	p.K154N		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	154					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)												0.440758	250.997848	251.648895	93	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26234700	26234700	7410	6	C	A	A	A	415	32	HIST1H1D	2	2
HIST1H4I	8294	broad.mit.edu	37	6	27107385	27107385	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27107385G>T	uc003niy.1	+	c.298G>T	c.(298-300)GGC>TGC	p.G100C	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	100					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1										6				0.35514	106.517563	108.496993	38	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27107385	27107385	7458	6	G	T	T	T	611	47	HIST1H4I	2	2
HIST1H2BL	8340	broad.mit.edu	37	6	27775345	27775345	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27775345C>A	uc003njl.2	-	c.340G>T	c.(340-342)GAG>TAG	p.E114*	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	114					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.354167	131.874655	134.57767	51	93	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27775345	27775345	7436	6	C	A	A	A	390	30	HIST1H2BL	5	2
DDAH2	23564	broad.mit.edu	37	6	31696006	31696006	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31696006C>A	uc003nwp.2	-	c.535G>T	c.(535-537)GGG>TGG	p.G179W	DDAH2_uc003nwq.2_Missense_Mutation_p.G179W	NM_013974	NP_039268	O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	179					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding				0					L-Citrulline(DB00155)									0.465753	96.534718	96.609839	34	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31696006	31696006	4493	6	C	A	A	A	286	22	DDAH2	2	2
RNF8	9025	broad.mit.edu	37	6	37336320	37336320	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:37336320C>T	uc003onq.3	+	c.301C>T	c.(301-303)CAT>TAT	p.H101Y	RNF8_uc003onr.3_Missense_Mutation_p.H101Y|RNF8_uc011dtx.1_Missense_Mutation_p.H33Y	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	101					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1														0.0325	-74.722889	21.068605	13	387	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37336320	37336320	13979	6	C	T	T	T	377	29	RNF8	2	2
DNAH8	1769	broad.mit.edu	37	6	38881720	38881720	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38881720G>A	uc003ooe.1	+	c.9304G>A	c.(9304-9306)GCA>ACA	p.A3102T		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	3102	Stalk (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.195122	49.239321	59.893704	24	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38881720	38881720	4790	6	G	A	A	A	442	34	DNAH8	2	2
LRFN2	57497	broad.mit.edu	37	6	40400206	40400206	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:40400206G>T	uc003oph.1	-	c.647C>A	c.(646-648)CCC>CAC	p.P216H		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	216	LRR 7.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.166667	21.222935	30.060844	14	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40400206	40400206	9311	6	G	T	T	T	559	43	LRFN2	2	2
PGC	5225	broad.mit.edu	37	6	41704731	41704731	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41704731G>T	uc003ora.1	-	c.1026C>A	c.(1024-1026)TAC>TAA	p.Y342*	TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	342					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)											0.157895	5.869146	7.94392	3	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41704731	41704731	12208	6	G	T	T	T	464	36	PGC	5	2
CUL7	9820	broad.mit.edu	37	6	43011260	43011260	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43011260C>A	uc011dvb.1	-	c.3533G>T	c.(3532-3534)CGC>CTC	p.R1178L	CUL7_uc010jyg.2_Missense_Mutation_p.R373L|CUL7_uc003otq.2_Missense_Mutation_p.R1094L|CUL7_uc010jyh.2_Missense_Mutation_p.R87L|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1094					interspecies interaction between organisms|regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)											0.310345	49.252108	51.097993	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43011260	43011260	4220	6	C	A	A	A	351	27	CUL7	1	1
CUL9	23113	broad.mit.edu	37	6	43152288	43152288	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43152288A>T	uc003ouk.2	+	c.240A>T	c.(238-240)TTA>TTT	p.L80F	CUL9_uc003ouj.1_Missense_Mutation_p.L80F|CUL9_uc003oul.2_Missense_Mutation_p.L80F|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	80					regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process	anaphase-promoting complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|central_nervous_system(1)	6														0.248804	128.22448	140.20153	52	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43152288	43152288	4221	6	A	T	T	T	193	15	CUL9	3	3
CRIP3	401262	broad.mit.edu	37	6	43274041	43274041	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43274041C>A	uc010jyn.1	-	c.411G>T	c.(409-411)GTG>GTT	p.V137V	CRIP3_uc003ouu.1_Silent_p.V137V	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	137	LIM zinc-binding 2.					cytoplasm	zinc ion binding				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)											0.273684	66.205913	70.591931	26	69	KEEP	---	---	---	---	capture		Silent	SNP	43274041	43274041	4015	6	C	A	A	A	366	29	CRIP3	2	2
PKHD1	5314	broad.mit.edu	37	6	51897943	51897943	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51897943C>A	uc003pah.1	-	c.3249G>T	c.(3247-3249)GTG>GTT	p.V1083V	PKHD1_uc003pai.2_Silent_p.V1083V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1083	IPT/TIG 5.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.459677	172.95678	173.133001	57	67	KEEP	---	---	---	---	capture		Silent	SNP	51897943	51897943	12396	6	C	A	A	A	366	29	PKHD1	2	2
HCRTR2	3062	broad.mit.edu	37	6	55128554	55128554	+	Silent	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55128554C>T	uc003pcl.2	+	c.696C>T	c.(694-696)TAC>TAT	p.Y232Y	HCRTR2_uc010jzv.2_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.Y167Y	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	232	Helical; Name=5; (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)	2	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)											0.428571	145.793054	146.324984	51	68	KEEP	---	---	---	---	capture		Silent	SNP	55128554	55128554	7285	6	C	T	T	T	220	17	HCRTR2	2	2
DST	667	broad.mit.edu	37	6	56425222	56425222	+	Splice_Site_SNP	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56425222C>T	uc003pdf.2	-	c.7954_splice	c.e52-1	p.S2652_splice	DST_uc003pcz.3_Splice_Site_SNP_p.S2474_splice|DST_uc011dxj.1_Splice_Site_SNP_p.S2503_splice|DST_uc011dxk.1_Splice_Site_SNP_p.S2514_splice|DST_uc003pcy.3_Splice_Site_SNP_p.S2148_splice	NM_001144769	NP_001138241			dystonin isoform 2						cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.428571	19.347689	19.410038	6	8	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56425222	56425222	4967	6	C	T	T	T	260	20	DST	5	2
EYS	346007	broad.mit.edu	37	6	66053950	66053950	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:66053950G>A	uc011dxu.1	-	c.1580C>T	c.(1579-1581)CCA>CTA	p.P527L	EYS_uc003peq.2_Missense_Mutation_p.P527L|EYS_uc003per.1_Missense_Mutation_p.P527L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	527					response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1														0.173913	38.621253	50.171183	20	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66053950	66053950	5526	6	G	A	A	A	611	47	EYS	2	2
BAI3	577	broad.mit.edu	37	6	69666701	69666701	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69666701G>C	uc003pev.3	+	c.1525G>C	c.(1525-1527)GCA>CCA	p.A509P	BAI3_uc010kak.2_Missense_Mutation_p.A509P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	509	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.072917	-3.580466	14.370464	7	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69666701	69666701	1321	6	G	C	C	C	611	47	BAI3	3	3
LMBRD1	55788	broad.mit.edu	37	6	70411412	70411412	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70411412C>A	uc003pfa.2	-	c.1006G>T	c.(1006-1008)GGA>TGA	p.G336*	LMBRD1_uc003pey.2_Nonsense_Mutation_p.G132*|LMBRD1_uc003pez.2_Nonsense_Mutation_p.G263*|LMBRD1_uc010kal.2_Nonsense_Mutation_p.G263*|LMBRD1_uc003pfb.2_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	336	Extracellular (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1														0.181818	8.88571	10.97876	4	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70411412	70411412	9171	6	C	A	A	A	273	21	LMBRD1	5	2
MRAP2	112609	broad.mit.edu	37	6	84765081	84765081	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84765081C>A	uc003pkg.3	+	c.44C>A	c.(43-45)TCG>TAG	p.S15*	MRAP2_uc010kbo.2_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	15					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	adrenocorticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding				0														0.214286	56.032189	64.4832	24	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	84765081	84765081	10146	6	C	A	A	A	403	31	MRAP2	5	1
MAP3K7	6885	broad.mit.edu	37	6	91257068	91257068	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:91257068C>A	uc003pnz.1	-	c.1119G>T	c.(1117-1119)GGG>GGT	p.G373G	MAP3K7_uc003poa.1_Silent_p.G373G|MAP3K7_uc003pob.1_Silent_p.G373G|MAP3K7_uc003poc.1_Silent_p.G373G	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	373					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)						329				0.279693	186.658663	198.053228	73	188	KEEP	---	---	---	---	capture		Silent	SNP	91257068	91257068	9638	6	C	A	A	A	379	30	MAP3K7	2	2
ZAN	7455	broad.mit.edu	37	7	100349612	100349612	+	Silent	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100349612C>A	uc003uwj.2	+	c.1884C>A	c.(1882-1884)ATC>ATA	p.I628I	ZAN_uc003uwk.2_Silent_p.I628I|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	628	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.184615	20.655123	26.727512	12	53	KEEP	---	---	---	---	capture		Silent	SNP	100349612	100349612	18096	7	C	A	A	A	382	30	ZAN	2	2
DUS4L	11062	broad.mit.edu	37	7	107216865	107216865	+	Silent	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107216865A>T	uc003veh.2	+	c.534A>T	c.(532-534)ACA>ACT	p.T178T	DUS4L_uc003veg.2_Silent_p.T57T|DUS4L_uc011klw.1_Non-coding_Transcript|DUS4L_uc011klx.1_Silent_p.T57T|DUS4L_uc010ljl.2_Silent_p.T88T	NM_181581	NP_853559	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like	178					oxidation-reduction process|tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0														0.5	146.17412	146.17412	45	45	KEEP	---	---	---	---	capture		Silent	SNP	107216865	107216865	4993	7	A	T	T	T	80	7	DUS4L	3	3
DLD	1738	broad.mit.edu	37	7	107533693	107533693	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107533693G>C	uc003vet.2	+	c.88G>C	c.(88-90)GTG>CTG	p.V30L	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.1_Missense_Mutation_p.V30L|DLD_uc011kmh.1_Missense_Mutation_p.V30L|DLD_uc011kmi.1_5'UTR	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	30					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)									0.226804	67.397735	74.043434	22	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107533693	107533693	4731	7	G	C	C	C	468	36	DLD	3	3
LAMB4	22798	broad.mit.edu	37	7	107696157	107696157	+	Silent	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107696157A>T	uc010ljo.1	-	c.3675T>A	c.(3673-3675)TCT>TCA	p.S1225S	LAMB4_uc003vey.2_Silent_p.S1225S|LAMB4_uc010ljp.1_Silent_p.S194S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1225	Domain II.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.181034	44.403034	55.49687	21	95	KEEP	---	---	---	---	capture		Silent	SNP	107696157	107696157	8936	7	A	T	T	T	80	7	LAMB4	3	3
LAMB4	22798	broad.mit.edu	37	7	107718762	107718762	+	Splice_Site_SNP	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107718762C>G	uc010ljo.1	-	c.1888_splice	c.e16-1	p.S630_splice	LAMB4_uc003vey.2_Splice_Site_SNP_p.S630_splice	NM_007356	NP_031382			laminin, beta 4 precursor						cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.411765	24.522147	24.637738	7	10	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	107718762	107718762	8936	7	C	G	G	G	260	20	LAMB4	5	3
NRCAM	4897	broad.mit.edu	37	7	107832198	107832198	+	Silent	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107832198G>C	uc003vfb.2	-	c.1878C>G	c.(1876-1878)TCC>TCG	p.S626S	NRCAM_uc003vfc.2_Silent_p.S620S|NRCAM_uc011kmk.1_Silent_p.S621S|NRCAM_uc003vfd.2_Silent_p.S602S|NRCAM_uc003vfe.2_Silent_p.S602S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	626	Ig-like 6.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5														0.173913	29.153854	36.08816	12	57	KEEP	---	---	---	---	capture		Silent	SNP	107832198	107832198	11049	7	G	C	C	C	496	39	NRCAM	3	3
THAP5	168451	broad.mit.edu	37	7	108205159	108205159	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:108205159G>C	uc003vfm.2	-	c.664C>G	c.(664-666)CAA>GAA	p.Q222E	THAP5_uc003vfl.2_Missense_Mutation_p.Q180E	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5 isoform 1	222					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding				0														0.482759	107.000637	107.015517	28	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108205159	108205159	16375	7	G	C	C	C	585	45	THAP5	3	3
C7orf58	79974	broad.mit.edu	37	7	120767204	120767204	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120767204G>T	uc003vjq.3	+	c.1195G>T	c.(1195-1197)GAA>TAA	p.E399*	C7orf58_uc003vjr.1_Nonsense_Mutation_p.E399*|C7orf58_uc003vjs.3_Nonsense_Mutation_p.E399*|C7orf58_uc003vjt.3_Nonsense_Mutation_p.E179*|C7orf58_uc010lkk.1_Nonsense_Mutation_p.E179*	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	399						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.234043	23.674877	26.745577	11	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	120767204	120767204	2512	7	G	T	T	T	429	33	C7orf58	5	2
CADPS2	93664	broad.mit.edu	37	7	121985699	121985699	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121985699A>G	uc010lkp.2	-	c.3541T>C	c.(3541-3543)TTT>CTT	p.F1181L	CADPS2_uc011knx.1_Missense_Mutation_p.F556L|CADPS2_uc003vkg.3_Missense_Mutation_p.F835L|CADPS2_uc010lkq.2_Missense_Mutation_p.F1140L	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1181					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.168067	52.634524	65.044614	20	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121985699	121985699	2687	7	A	G	G	G	26	2	CADPS2	4	4
MKLN1	4289	broad.mit.edu	37	7	131071982	131071982	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131071982G>C	uc011kpm.1	+	c.272G>C	c.(271-273)GGT>GCT	p.G91A	MKLN1_uc011kpl.1_Missense_Mutation_p.G68A|MKLN1_uc010lmh.2_Missense_Mutation_p.G91A|MKLN1_uc003vqs.2_5'UTR	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	91					signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)													0.25	72.825942	78.022159	23	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131071982	131071982	9993	7	G	C	C	C	572	44	MKLN1	3	3
PODXL	5420	broad.mit.edu	37	7	131195709	131195709	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131195709G>A	uc003vqw.3	-	c.584C>T	c.(583-585)ACG>ATG	p.T195M	PODXL_uc003vqx.3_Missense_Mutation_p.T195M	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	195	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)													0.066667	-10.369552	18.844723	10	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131195709	131195709	12608	7	G	A	A	A	520	40	PODXL	1	1
PLXNA4	91584	broad.mit.edu	37	7	131815270	131815270	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131815270G>T	uc003vra.3	-	c.5653C>A	c.(5653-5655)CAA>AAA	p.Q1885K	PLXNA4_uc003vqz.3_Missense_Mutation_p.Q170K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1885	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.244681	60.476591	66.060119	23	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131815270	131815270	12548	7	G	T	T	T	624	48	PLXNA4	2	2
STRA8	346673	broad.mit.edu	37	7	134925270	134925270	+	Splice_Site_SNP	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134925270G>A	uc011kpx.1	+	c.61_splice	c.e2-1	p.L21_splice		NM_182489	NP_872295			STRA8						DNA replication	cytoplasm|nucleus	transcription regulator activity				0														0.433333	79.636821	79.870027	26	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	134925270	134925270	15843	7	G	A	A	A	442	34	STRA8	5	2
LUC7L2	51631	broad.mit.edu	37	7	139107013	139107013	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139107013G>A	uc011kqt.1	+	c.1304G>A	c.(1303-1305)CGG>CAG	p.R435Q	LUC7L2_uc011kqs.1_Missense_Mutation_p.R366Q|LUC7L2_uc003vux.2_Missense_Mutation_p.R369Q|LUC7L2_uc003vuy.2_Missense_Mutation_p.R368Q|LUC7L2_uc003vva.2_Missense_Mutation_p.R316Q	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	369	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)													0.299539	180.384077	188.180328	65	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139107013	139107013	9459	7	G	A	A	A	507	39	LUC7L2	1	1
PRSS1	5644	broad.mit.edu	37	7	142459634	142459634	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142459634G>A	uc003wak.2	+	c.210G>A	c.(208-210)CAG>CAA	p.Q70Q	TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.Q10Q	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	70	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)											0.128114	55.994223	93.874616	36	245	KEEP	---	---	---	---	capture		Silent	SNP	142459634	142459634	13064	7	G	A	A	A	451	35	PRSS1	2	2
TAS2R40	259286	broad.mit.edu	37	7	142919493	142919493	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142919493A>G	uc011ksx.1	+	c.322A>G	c.(322-324)AAT>GAT	p.N108D		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	108	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)													0.041056	-47.737061	29.531792	14	327	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142919493	142919493	16100	7	A	G	G	G	65	5	TAS2R40	4	4
HTR5A	3361	broad.mit.edu	37	7	154876017	154876017	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154876017G>T	uc003wlu.1	+	c.894G>T	c.(892-894)TGG>TGT	p.W298C		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	298	Helical; Name=6; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)										0.048276	-19.400217	12.089746	7	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154876017	154876017	7750	7	G	T	T	T	533	41	HTR5A	2	2
ABCB5	340273	broad.mit.edu	37	7	20685729	20685729	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20685729G>T	uc010kuh.2	+	c.949G>T	c.(949-951)GAA>TAA	p.E317*	ABCB5_uc003suw.3_5'Flank|ABCB5_uc003suv.3_5'Flank|ABCB5_uc011jyi.1_5'Flank	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	503	Extracellular (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.306667	54.941653	57.476521	23	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20685729	20685729	45	7	G	T	T	T	429	33	ABCB5	5	2
DNAH11	8701	broad.mit.edu	37	7	21742355	21742355	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21742355A>T	uc003svc.2	+	c.6229A>T	c.(6229-6231)ATT>TTT	p.I2077F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2077	AAA 1 (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														0.175	15.108095	19.087048	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21742355	21742355	4781	7	A	T	T	T	208	16	DNAH11	3	3
DNAH11	8701	broad.mit.edu	37	7	21827034	21827034	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21827034C>A	uc003svc.2	+	c.9778C>A	c.(9778-9780)CAA>AAA	p.Q3260K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3260	Stalk (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														0.261538	44.844169	48.189596	17	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21827034	21827034	4781	7	C	A	A	A	325	25	DNAH11	2	2
STK31	56164	broad.mit.edu	37	7	23826176	23826176	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23826176C>T	uc003sws.3	+	c.2324C>T	c.(2323-2325)GCC>GTC	p.A775V	STK31_uc003swt.3_Missense_Mutation_p.A752V|STK31_uc011jze.1_Missense_Mutation_p.A775V|STK31_uc010kuq.2_Missense_Mutation_p.A752V|STK31_uc003swv.1_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	775	Protein kinase.				protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.083333	-0.074784	16.866251	8	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23826176	23826176	15816	7	C	T	T	T	338	26	STK31	2	2
CPVL	54504	broad.mit.edu	37	7	29103813	29103813	+	Nonsense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29103813G>C	uc003szv.2	-	c.1001C>G	c.(1000-1002)TCA>TGA	p.S334*	CPVL_uc003szw.2_Nonsense_Mutation_p.S334*|CPVL_uc003szx.2_Nonsense_Mutation_p.S334*	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	334					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2														0.262626	81.304364	86.350047	26	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29103813	29103813	3974	7	G	C	C	C	585	45	CPVL	5	3
BMPER	168667	broad.mit.edu	37	7	34192785	34192785	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34192785G>T	uc011kap.1	+	c.1958G>T	c.(1957-1959)GGT>GTT	p.G653V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	653	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.325301	236.716947	243.445646	81	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34192785	34192785	1493	7	G	T	T	T	572	44	BMPER	2	2
ANLN	54443	broad.mit.edu	37	7	36438966	36438966	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36438966G>C	uc003tff.2	+	c.451G>C	c.(451-453)GAG>CAG	p.E151Q	ANLN_uc011kaz.1_Missense_Mutation_p.E63Q|ANLN_uc003tfg.2_Missense_Mutation_p.E151Q|ANLN_uc010kxe.2_Missense_Mutation_p.E151Q	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	151	Nuclear localization.|Interaction with CD2AP.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3														0.043478	-9.480277	11.06402	4	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36438966	36438966	702	7	G	C	C	C	429	33	ANLN	3	3
VPS41	27072	broad.mit.edu	37	7	38768381	38768381	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38768381C>G	uc003tgy.2	-	c.2270G>C	c.(2269-2271)CGT>CCT	p.R757P	VPS41_uc003tgz.2_Missense_Mutation_p.R732P|VPS41_uc010kxn.2_Missense_Mutation_p.R668P|VPS41_uc003tgx.2_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	757					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			central_nervous_system(1)	1														0.324138	159.411968	163.37294	47	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38768381	38768381	17777	7	C	G	G	G	247	19	VPS41	3	3
COL28A1	340267	broad.mit.edu	37	7	7420472	7420472	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:7420472C>T	uc003src.1	-	c.2227G>A	c.(2227-2229)GAT>AAT	p.D743N	COL28A1_uc011jxe.1_Missense_Mutation_p.D426N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	743	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity				0		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)										0.039275	-50.994432	24.817757	13	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7420472	7420472	3824	7	C	T	T	T	403	31	COL28A1	1	1
PCLO	27445	broad.mit.edu	37	7	82584907	82584907	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82584907C>A	uc003uhx.2	-	c.5362G>T	c.(5362-5364)GAG>TAG	p.E1788*	PCLO_uc003uhv.2_Nonsense_Mutation_p.E1788*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1719					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.351351	134.442143	137.332517	52	96	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82584907	82584907	12003	7	C	A	A	A	390	30	PCLO	5	2
ADAM22	53616	broad.mit.edu	37	7	87763675	87763675	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87763675T>C	uc003ujp.1	+	c.1265T>C	c.(1264-1266)CTT>CCT	p.L422P	ADAM22_uc003ujk.1_Missense_Mutation_p.L370P|ADAM22_uc003ujl.1_Missense_Mutation_p.L370P|ADAM22_uc003ujn.2_Missense_Mutation_p.L370P|ADAM22_uc003ujm.2_Missense_Mutation_p.L370P|ADAM22_uc003ujo.2_Missense_Mutation_p.L370P	NM_004194	NP_004185	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 4	370	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)							704				0.47619	34.148398	34.158771	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87763675	87763675	245	7	T	C	C	C	728	56	ADAM22	4	4
NXPH1	30010	broad.mit.edu	37	7	8791179	8791179	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:8791179A>G	uc003srv.2	+	c.596A>G	c.(595-597)GAA>GGA	p.E199G	NXPH1_uc011jxh.1_Missense_Mutation_p.E82G	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	199	V (Cys-rich).					extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)										0.28	44.630499	46.804918	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8791179	8791179	11195	7	A	G	G	G	117	9	NXPH1	4	4
CDK6	1021	broad.mit.edu	37	7	92300767	92300767	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92300767C>A	uc011khw.1	-	c.620G>T	c.(619-621)TGC>TTC	p.C207F	CDK6_uc010lez.2_Missense_Mutation_p.C207F	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	207	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|protein phosphorylation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)							86				0.110169	13.382171	31.132213	13	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92300767	92300767	3277	7	C	A	A	A	325	25	CDK6	2	2
RP1L1	94137	broad.mit.edu	37	8	10470189	10470190	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10470189_10470190GG>CT	uc003wtc.2	-	c.1418_1419CC>AG	c.(1417-1419)CCC>CAG	p.P473Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	473					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.368421	70.276943	71.137514	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	10470189	10470190	14012	8	GG	CT	CT	CT	600	47	RP1L1	3	3
PINX1	54984	broad.mit.edu	37	8	10623344	10623344	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10623344C>A	uc003wth.2	-	c.554G>T	c.(553-555)CGG>CTG	p.R185L	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Silent_p.A159A	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	185				RM -> PV (in Ref. 2; AAK31790).	mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)										0.042553	-33.102351	19.638667	10	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10623344	10623344	12357	8	C	A	A	A	299	23	PINX1	1	1
CSMD3	114788	broad.mit.edu	37	8	113395820	113395820	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113395820C>A	uc003ynu.2	-	c.6007G>T	c.(6007-6009)GCT>TCT	p.A2003S	CSMD3_uc003yns.2_Missense_Mutation_p.A1205S|CSMD3_uc003ynt.2_Missense_Mutation_p.A1963S|CSMD3_uc011lhx.1_Missense_Mutation_p.A1899S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2003	Extracellular (Potential).|CUB 11.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.365591	99.322066	100.800991	34	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113395820	113395820	4087	8	C	A	A	A	325	25	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113697760	113697760	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113697760G>A	uc003ynu.2	-	c.2357C>T	c.(2356-2358)CCA>CTA	p.P786L	CSMD3_uc003yns.2_Missense_Mutation_p.P58L|CSMD3_uc003ynt.2_Missense_Mutation_p.P746L|CSMD3_uc011lhx.1_Missense_Mutation_p.P682L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	786	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.354545	112.991822	115.043658	39	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113697760	113697760	4087	8	G	A	A	A	611	47	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	114031359	114031359	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:114031359G>T	uc003ynu.2	-	c.967C>A	c.(967-969)CTC>ATC	p.L323I	CSMD3_uc003ynt.2_Missense_Mutation_p.L283I|CSMD3_uc011lhx.1_Missense_Mutation_p.L323I|CSMD3_uc010mcx.1_Missense_Mutation_p.L323I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	323	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.375587	226.023499	228.925861	80	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114031359	114031359	4087	8	G	T	T	T	442	34	CSMD3	2	2
TRPS1	7227	broad.mit.edu	37	8	116616109	116616109	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116616109C>A	uc003yny.2	-	c.2087G>T	c.(2086-2088)CGA>CTA	p.R696L	TRPS1_uc011lhy.1_Missense_Mutation_p.R687L|TRPS1_uc010mcy.2_Missense_Mutation_p.R683L|TRPS1_uc003ynz.2_Missense_Mutation_p.R683L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	683	Mediates interaction with GLI3.|C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.189655	21.688917	26.916292	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116616109	116616109	17144	8	C	A	A	A	403	31	TRPS1	1	1
COL14A1	7373	broad.mit.edu	37	8	121267478	121267478	+	Splice_Site_SNP	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121267478G>C	uc003yox.2	+	c.2753_splice	c.e23-1	p.L918_splice	COL14A1_uc003yoy.2_Splice_Site_SNP_p.L596_splice	NM_021110	NP_066933			collagen, type XIV, alpha 1 precursor						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.151163	59.352671	79.385904	26	146	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	121267478	121267478	3809	8	G	C	C	C	468	36	COL14A1	5	3
ZFAT	57623	broad.mit.edu	37	8	135614385	135614385	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:135614385T>A	uc003yup.2	-	c.1577A>T	c.(1576-1578)CAG>CTG	p.Q526L	ZFAT_uc003yun.2_Missense_Mutation_p.Q514L|ZFAT_uc003yuo.2_Missense_Mutation_p.Q514L|ZFAT_uc010meh.2_Missense_Mutation_p.Q514L|ZFAT_uc010mei.2_Non-coding_Transcript|ZFAT_uc003yuq.2_Missense_Mutation_p.Q514L|ZFAT_uc010mej.2_Missense_Mutation_p.Q464L|ZFAT_uc003yur.2_Missense_Mutation_p.Q514L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)											0.225806	15.607868	17.750025	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135614385	135614385	18220	8	T	A	A	A	715	55	ZFAT	3	3
EIF2C2	27161	broad.mit.edu	37	8	141549520	141549520	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141549520C>T	uc003yvn.2	-	c.2068G>A	c.(2068-2070)GCC>ACC	p.A690T	EIF2C2_uc010men.2_Missense_Mutation_p.A613T|EIF2C2_uc010meo.2_Missense_Mutation_p.A690T	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	690	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-microRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)											0.208333	41.970106	49.517844	20	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141549520	141549520	5195	8	C	T	T	T	338	26	EIF2C2	2	2
TSTA3	7264	broad.mit.edu	37	8	144695114	144695114	+	Nonsense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144695114C>T	uc003yza.2	-	c.932G>A	c.(931-933)TGG>TAG	p.W311*	TSTA3_uc003yzb.2_Nonsense_Mutation_p.W311*	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	311					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion|oxidation-reduction process	cytoplasm	coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)									0.294118	12.970074	13.613966	5	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	144695114	144695114	17227	8	C	T	T	T	273	21	TSTA3	5	2
TRIM35	23087	broad.mit.edu	37	8	27168490	27168490	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27168490T>A	uc003xfl.1	-	c.263A>T	c.(262-264)GAG>GTG	p.E88V	PTK2B_uc003xfn.1_5'Flank|PTK2B_uc003xfo.1_5'Flank|TRIM35_uc010lup.1_Missense_Mutation_p.E88V|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	88					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)										0.470588	20.696411	20.709317	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27168490	27168490	17053	8	T	A	A	A	702	54	TRIM35	3	3
ZFHX4	79776	broad.mit.edu	37	8	77617618	77617618	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77617618C>A	uc003yav.2	+	c.1295C>A	c.(1294-1296)TCT>TAT	p.S432Y	ZFHX4_uc003yat.1_Missense_Mutation_p.S432Y|ZFHX4_uc003yau.1_Missense_Mutation_p.S432Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S432Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	432					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)											0.235294	18.380063	20.561204	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77617618	77617618	18223	8	C	A	A	A	416	32	ZFHX4	2	2
ATP6V0D2	245972	broad.mit.edu	37	8	87153747	87153747	+	Nonsense_Mutation	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87153747A>T	uc003ydp.1	+	c.550A>T	c.(550-552)AAA>TAA	p.K184*		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0	184					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0														0.45283	67.694519	67.796818	24	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	87153747	87153747	1193	8	A	T	T	T	169	13	ATP6V0D2	5	3
CNGB3	54714	broad.mit.edu	37	8	87666264	87666264	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87666264G>T	uc003ydx.2	-	c.879C>A	c.(877-879)CAC>CAA	p.H293Q	CNGB3_uc010maj.2_Missense_Mutation_p.H155Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	293	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.22093	46.474485	52.643158	19	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87666264	87666264	3739	8	G	T	T	T	464	36	CNGB3	2	2
RUNX1T1	862	broad.mit.edu	37	8	93004034	93004034	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:93004034C>A	uc011lgi.1	-	c.857G>T	c.(856-858)CGG>CTG	p.R286L	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R248L|RUNX1T1_uc003yfd.2_Missense_Mutation_p.R275L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R238L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R248L|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R238L	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	275					generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)							213				0.139241	19.671175	29.604608	11	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93004034	93004034	14227	8	C	A	A	A	299	23	RUNX1T1	1	1
GDF6	392255	broad.mit.edu	37	8	97156922	97156922	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97156922C>T	uc003yhp.2	-	c.1237G>A	c.(1237-1239)GGC>AGC	p.G413S		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	413					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)													0.195122	17.9147	21.439459	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97156922	97156922	6585	8	C	T	T	T	299	23	GDF6	1	1
OSR2	116039	broad.mit.edu	37	8	99961558	99961558	+	Silent	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99961558G>T	uc011lgx.1	+	c.741G>T	c.(739-741)ACG>ACT	p.T247T	OSR2_uc010mbn.2_Silent_p.T126T|OSR2_uc003yir.2_Silent_p.T126T|OSR2_uc003yiq.2_Silent_p.T126T	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	126					bone morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|mesonephros development|metanephros development|middle ear morphogenesis|odontogenesis|osteoblast proliferation|palate development|positive regulation of epithelial cell proliferation|positive regulation of gene expression	nucleus	sequence-specific DNA binding|transcription activator activity|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)											0.159722	36.929145	52.824724	23	121	KEEP	---	---	---	---	capture		Silent	SNP	99961558	99961558	11705	8	G	T	T	T	483	38	OSR2	1	1
KIAA1958	158405	broad.mit.edu	37	9	115421828	115421828	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115421828G>A	uc011lwx.1	+	c.1714G>A	c.(1714-1716)GCA>ACA	p.A572T	KIAA1958_uc004bgf.1_Missense_Mutation_p.A544T	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	544											0														0.384615	14.072024	14.223706	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115421828	115421828	8575	9	G	A	A	A	546	42	KIAA1958	2	2
LINGO2	158038	broad.mit.edu	37	9	27948880	27948881	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:27948880_27948881CC>AA	uc003zqu.1	-	c.1789_1790GG>TT	c.(1789-1791)GGA>TTA	p.G597L	LINGO2_uc010mjf.1_Missense_Mutation_p.G597L|LINGO2_uc003zqv.1_Missense_Mutation_p.G597L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	597	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)										0.524272	161.248018	161.300601	54	49	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	27948880	27948881	9142	9	CC	AA	AA	AA	390	30	LINGO2	2	2
RNF38	152006	broad.mit.edu	37	9	36356463	36356463	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36356463T>A	uc003zzh.2	-	c.746A>T	c.(745-747)CAG>CTG	p.Q249L	RNF38_uc003zzi.2_Missense_Mutation_p.Q199L|RNF38_uc003zzj.2_Missense_Mutation_p.Q166L|RNF38_uc003zzk.2_Missense_Mutation_p.Q166L|RNF38_uc003zzl.2_Missense_Mutation_p.Q173L|RNF38_uc003zzm.2_Missense_Mutation_p.Q166L	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	249	Pro-rich.						zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)											0.570093	206.195398	206.655421	61	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36356463	36356463	13969	9	T	A	A	A	715	55	RNF38	3	3
ZNF658	26149	broad.mit.edu	37	9	40772696	40772696	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40772696C>A	uc004abs.2	-	c.2579G>T	c.(2578-2580)GGG>GTG	p.G860V	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G860V	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	860	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.603448	106.42857	106.969951	35	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40772696	40772696	18664	9	C	A	A	A	286	22	ZNF658	2	2
VPS13A	23230	broad.mit.edu	37	9	79820312	79820312	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79820312G>C	uc004akr.2	+	c.271G>C	c.(271-273)GTG>CTG	p.V91L	VPS13A_uc004akp.3_Missense_Mutation_p.V91L|VPS13A_uc004akq.3_Missense_Mutation_p.V91L|VPS13A_uc004aks.2_Missense_Mutation_p.V91L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	91					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.294118	17.584379	18.21987	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79820312	79820312	17756	9	G	C	C	C	468	36	VPS13A	3	3
FLJ46321	389763	broad.mit.edu	37	9	84605842	84605842	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84605842G>A	uc004amn.2	+	c.457G>A	c.(457-459)GCT>ACT	p.A153T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	153						integral to membrane					0														0.489796	65.883017	65.887805	24	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84605842	84605842	6174	9	G	A	A	A	598	46	FLJ46321	2	2
IARS	3376	broad.mit.edu	37	9	94984884	94984884	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94984884T>A	uc004art.1	-	c.3624A>T	c.(3622-3624)CAA>CAT	p.Q1208H	IARS_uc004ars.1_Missense_Mutation_p.Q1001H|IARS_uc004aru.3_Missense_Mutation_p.Q1208H|IARS_uc010mqr.2_Missense_Mutation_p.Q1098H|IARS_uc010mqt.2_Missense_Mutation_p.Q431H	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	1208					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.243902	141.791733	156.487303	60	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94984884	94984884	7773	9	T	A	A	A	725	56	IARS	3	3
CHRDL1	91851	broad.mit.edu	37	X	109924833	109924833	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109924833C>T	uc004eou.3	-	c.1033G>A	c.(1033-1035)GGG>AGG	p.G345R	CHRDL1_uc004eov.2_Missense_Mutation_p.G334R|CHRDL1_uc004eow.2_Missense_Mutation_p.G343R|CHRDL1_uc010nps.2_Missense_Mutation_p.G344R|CHRDL1_uc004eot.2_Missense_Mutation_p.G264R|CHRDL1_uc011mss.1_Missense_Mutation_p.G259R	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	337					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0														0.08377	2.336939	36.017742	16	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109924833	109924833	3507	23	C	T	T	T	299	23	CHRDL1	1	1
AMOT	154796	broad.mit.edu	37	X	112022354	112022354	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:112022354C>T	uc004epr.2	-	c.3028G>A	c.(3028-3030)GTG>ATG	p.V1010M	AMOT_uc004eps.2_Missense_Mutation_p.V601M|AMOT_uc011mtc.1_Missense_Mutation_p.V250M	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	1010					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1														0.3	43.523337	45.669797	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112022354	112022354	585	23	C	T	T	T	221	17	AMOT	2	2
PLS3	5358	broad.mit.edu	37	X	114874743	114874743	+	Silent	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114874743T>A	uc004eqd.2	+	c.915T>A	c.(913-915)CTT>CTA	p.L305L	PLS3_uc010nqg.2_Silent_p.L87L|PLS3_uc011mtf.1_Silent_p.L292L|PLS3_uc004eqe.2_Silent_p.L305L|PLS3_uc011mtg.1_Silent_p.L278L|PLS3_uc011mth.1_Silent_p.L260L|PLS3_uc011mti.1_5'UTR|PLS3_uc011mtj.1_5'UTR|PLS3_uc011mtk.1_5'Flank|PLS3_uc011mtl.1_5'Flank	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	305	CH 2.|Actin-binding 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						Colon(160;1047 1864 8490 12969 29601)								0.319149	113.912536	118.018077	45	96	KEEP	---	---	---	---	capture		Silent	SNP	114874743	114874743	12534	23	T	A	A	A	795	62	PLS3	3	3
ODZ1	10178	broad.mit.edu	37	X	123780638	123780638	+	Silent	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123780638G>A	uc010nqy.2	-	c.1602C>T	c.(1600-1602)ACC>ACT	p.T534T	ODZ1_uc011muj.1_Silent_p.T533T|ODZ1_uc004euj.2_Silent_p.T534T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	534	Extracellular (Potential).|EGF-like 1.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.428571	77.085248	77.335547	24	32	KEEP	---	---	---	---	capture		Silent	SNP	123780638	123780638	11239	23	G	A	A	A	600	47	ODZ1	2	2
DCAF12L2	340578	broad.mit.edu	37	X	125298530	125298530	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125298530C>A	uc004euk.1	-	c.1378G>T	c.(1378-1380)GGC>TGC	p.G460C		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	460										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.5	109.094769	109.094769	36	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125298530	125298530	4436	23	C	A	A	A	312	24	DCAF12L2	2	2
RBMX2	51634	broad.mit.edu	37	X	129545489	129545489	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129545489G>T	uc004evt.2	+	c.471G>T	c.(469-471)AAG>AAT	p.K157N		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	157	Lys-rich.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4														0.472727	78.041056	78.076983	26	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129545489	129545489	13614	23	G	T	T	T	438	34	RBMX2	2	2
SLC25A6	293	broad.mit.edu	37	X	1508155	1508155	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1508155C>A	uc004cpt.2	-	c.577G>T	c.(577-579)GGC>TGC	p.G193C	SLC25A6_uc004cpu.2_Non-coding_Transcript	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	193	Solcar 2.|Helical; Name=4; (By similarity).				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)									0.296296	41.676503	43.682	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1508155	1508155	15010	23	C	A	A	A	299	23	SLC25A6	1	1
DDX53	168400	broad.mit.edu	37	X	23019064	23019064	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23019064C>A	uc004daj.2	+	c.890C>A	c.(889-891)CCT>CAT	p.P297H		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	297	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|kidney(1)	2														0.330275	98.156373	100.942597	36	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23019064	23019064	4542	23	C	A	A	A	312	24	DDX53	2	2
DMD	1756	broad.mit.edu	37	X	32305815	32305815	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32305815T>A	uc004dda.1	-	c.6121A>T	c.(6121-6123)ATA>TTA	p.I2041L	DMD_uc004dcw.2_Missense_Mutation_p.I697L|DMD_uc004dcx.2_Missense_Mutation_p.I700L|DMD_uc004dcz.2_Missense_Mutation_p.I1918L|DMD_uc004dcy.1_Missense_Mutation_p.I2037L|DMD_uc004ddb.1_Missense_Mutation_p.I2033L|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2041	Spectrin 14.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.55	35.527429	35.571084	11	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32305815	32305815	4760	23	T	A	A	A	637	49	DMD	3	3
DMD	1756	broad.mit.edu	37	X	32503158	32503158	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32503158C>T	uc004dda.1	-	c.2681G>A	c.(2680-2682)AGC>AAC	p.S894N	DMD_uc004dcz.2_Missense_Mutation_p.S771N|DMD_uc004dcy.1_Missense_Mutation_p.S890N|DMD_uc004ddb.1_Missense_Mutation_p.S886N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	894	Spectrin 5.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.303797	65.366645	68.082565	24	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32503158	32503158	4760	23	C	T	T	T	364	28	DMD	2	2
FAM47A	158724	broad.mit.edu	37	X	34149272	34149272	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34149272A>G	uc004ddg.2	-	c.1124T>C	c.(1123-1125)CTC>CCC	p.L375P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	375										ovary(4)|central_nervous_system(1)	5														0.369565	55.567883	56.25365	17	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34149272	34149272	5790	23	A	G	G	G	143	11	FAM47A	4	4
CXorf59	286464	broad.mit.edu	37	X	36091257	36091257	+	Silent	SNP	A	T	T			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:36091257A>T	uc004ddk.1	+	c.192A>T	c.(190-192)GGA>GGT	p.G64G		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	64						integral to membrane				central_nervous_system(1)	1														0.413793	65.686882	66.063746	24	34	KEEP	---	---	---	---	capture		Silent	SNP	36091257	36091257	4279	23	A	T	T	T	132	11	CXorf59	3	3
FAM47C	442444	broad.mit.edu	37	X	37028890	37028890	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37028890C>A	uc004ddl.1	+	c.2407C>A	c.(2407-2409)CCT>ACT	p.P803T		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	803										ovary(3)	3														0.47619	55.386892	55.408084	20	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37028890	37028890	5792	23	C	A	A	A	338	26	FAM47C	2	2
PJA1	64219	broad.mit.edu	37	X	68381937	68381937	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:68381937C>G	uc004dxh.2	-	c.1145G>C	c.(1144-1146)CGA>CCA	p.R382P	PJA1_uc011mpi.1_Missense_Mutation_p.R100P|PJA1_uc004dxg.2_Missense_Mutation_p.R194P|PJA1_uc004dxi.2_Missense_Mutation_p.R327P	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	382							zinc ion binding				0														0.542373	112.800296	112.892219	32	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68381937	68381937	12385	23	C	G	G	G	403	31	PJA1	3	3
ITM2A	9452	broad.mit.edu	37	X	78616643	78616643	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78616643C>A	uc004edh.2	-	c.735G>T	c.(733-735)TGG>TGT	p.W245C	ITM2A_uc011mqr.1_Missense_Mutation_p.W201C	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	245						integral to membrane	protein binding			lung(2)	2														0.545455	72.49946	72.578081	24	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78616643	78616643	8216	23	C	A	A	A	390	30	ITM2A	2	2
TGIF2LX	90316	broad.mit.edu	37	X	89177700	89177700	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177700G>A	uc004efe.2	+	c.616G>A	c.(616-618)GTG>ATG	p.V206M		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	206					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.453333	96.638682	96.781157	34	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89177700	89177700	16355	23	G	A	A	A	624	48	TGIF2LX	2	2
DIS3	22894	broad.mit.edu	37	13	73333982	73333982	+	Frame_Shift_Del	DEL	T	-	-			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:73333982_73333982delT	uc001vix.3	-	c.2828_2828delA	c.(2827-2829)AACfs	p.N943fs	DIS3_uc001viy.3_Frame_Shift_Del_p.N913fs|DIS3_uc001viz.2_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	943					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding				0		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)							Multiple Myeloma(4;0.011)			0.51			54	51		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	73333982	73333982	4714	13	T	-	-	-	780	60	DIS3	5	5
TRPV3	162514	broad.mit.edu	37	17	3417247	3417247	+	Frame_Shift_Del	DEL	A	-	-			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3417247_3417247delA	uc002fvr.2	-	c.2340_2340delT	c.(2338-2340)TTTfs	p.F780fs	SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Frame_Shift_Del_p.F763fs|TRPV3_uc010vri.1_Frame_Shift_Del_p.F734fs|TRPV3_uc002fvt.1_Frame_Shift_Del_p.F779fs|TRPV3_uc010vrj.1_Frame_Shift_Del_p.F763fs|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Frame_Shift_Del_p.F764fs|TRPV3_uc010vrm.1_Non-coding_Transcript	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	779	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)									0.74			64	23		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	3417247	3417247	17148	17	A	-	-	-	63	5	TRPV3	5	5
IWS1	55677	broad.mit.edu	37	2	128261073	128261073	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128261073_128261073delC	uc002ton.2	-	c.1299_1299delG	c.(1297-1299)GAGfs	p.E433fs	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	433	Glu-rich.					nucleus	DNA binding|transcription regulator activity			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)										0.45			93	112		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	128261073	128261073	8235	2	C	-	-	-	415	32	IWS1	5	5
KIF6	221458	broad.mit.edu	37	6	39545914	39545914	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39545914_39545914delC	uc003oot.2	-	c.1099_1099delG	c.(1099-1101)GAAfs	p.E367fs	KIF6_uc010jxa.1_Frame_Shift_Del_p.E158fs|KIF6_uc011dua.1_Frame_Shift_Del_p.E367fs|KIF6_uc010jxb.1_Frame_Shift_Del_p.E367fs	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	367	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.32			92	198		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	39545914	39545914	8619	6	C	-	-	-	390	30	KIF6	5	5
ZC3HAV1	56829	broad.mit.edu	37	7	138749670	138749670	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138749670_138749670delC	uc003vun.2	-	c.1948_1948delG	c.(1948-1950)GTGfs	p.V650fs	ZC3HAV1_uc003vuo.2_Frame_Shift_Del_p.V111fs|ZC3HAV1_uc003vup.2_Frame_Shift_Del_p.V650fs	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	650	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1														0.31			56	125		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	138749670	138749670	18163	7	C	-	-	-	221	17	ZC3HAV1	5	5
ZNF169	169841	broad.mit.edu	37	9	97063626	97063628	+	In_Frame_Del	DEL	CAG	-	-	rs12350212	byFrequency;by1000genomes	TCGA-73-4668-01	TCGA-73-4668-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:97063626_97063628delCAG	uc004aum.1	+	c.1786_1788delCAG	c.(1786-1788)CAGdel	p.Q596del		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	596					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)												0.44			14	18		---	---	---	---	capture_indel		In_Frame_Del	DEL	97063626	97063628	18333	9	CAG	-	-	-	377	29	ZNF169	5	5
