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
CNNM1	26507	broad.mit.edu	37	10	101122151	101122151	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101122151C>T	uc010qpi.1	+	c.2026C>T	c.(2026-2028)CAG>TAG	p.Q676*	CNNM1_uc009xwe.2_Nonsense_Mutation_p.Q676*|CNNM1_uc001kpp.3_Nonsense_Mutation_p.Q676*|CNNM1_uc009xwf.2_Nonsense_Mutation_p.Q676*|CNNM1_uc009xwg.2_Nonsense_Mutation_p.Q76*	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	676					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)										0.15625	7.769317	11.36844	5	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101122151	101122151	3750	10	C	T	T	T	221	17	CNNM1	5	2
GPAM	57678	broad.mit.edu	37	10	113933594	113933594	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:113933594C>A	uc009xxy.1	-	c.423G>T	c.(421-423)GAG>GAT	p.E141D	GPAM_uc001kzp.2_Missense_Mutation_p.E141D|GPAM_uc001kzq.1_Missense_Mutation_p.E141D	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	141					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)	1				Epithelial(162;0.0306)|all cancers(201;0.123)		Ovarian(161;1017 2606 18293 52943)								0.186667	28.61524	35.518916	14	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113933594	113933594	6862	10	C	A	A	A	311	24	GPAM	2	2
C10orf96	374355	broad.mit.edu	37	10	118101714	118101714	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118101714G>T	uc001lck.2	+	c.448_splice	c.e5+1	p.E150_splice		NM_198515	NP_940917			hypothetical protein LOC374355											ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)										0.338028	70.170445	71.821402	24	47	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118101714	118101714	1664	10	G	T	T	T	572	44	C10orf96	5	2
PNLIPRP3	119548	broad.mit.edu	37	10	118231325	118231325	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118231325C>A	uc001lcl.3	+	c.1106C>A	c.(1105-1107)ACT>AAT	p.T369N		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	369	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)										0.326316	85.977608	88.528036	31	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118231325	118231325	12578	10	C	A	A	A	260	20	PNLIPRP3	2	2
PNLIPRP1	5407	broad.mit.edu	37	10	118355831	118355831	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118355831A>T	uc001lco.1	+	c.571A>T	c.(571-573)ACA>TCA	p.T191S	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.T191S|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	191					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)										0.178862	45.783179	57.714679	22	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118355831	118355831	12576	10	A	T	T	T	182	14	PNLIPRP1	3	3
HSPA12A	259217	broad.mit.edu	37	10	118460560	118460560	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118460560T>A	uc001lct.2	-	c.335A>T	c.(334-336)CAC>CTC	p.H112L	HSPA12A_uc001lcu.2_Missense_Mutation_p.H29L	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	112							ATP binding			ovary(1)	1				all cancers(201;0.0158)										0.1	5.294641	16.473219	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118460560	118460560	7703	10	T	A	A	A	767	59	HSPA12A	3	3
DMBT1	1755	broad.mit.edu	37	10	124358499	124358499	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124358499G>T	uc001lgk.1	+	c.3166G>T	c.(3166-3168)GTC>TTC	p.V1056F	DMBT1_uc001lgl.1_Missense_Mutation_p.V1046F|DMBT1_uc001lgm.1_Missense_Mutation_p.V557F|DMBT1_uc009xzz.1_Missense_Mutation_p.V1056F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.V17F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1056	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				Ovarian(182;93 2026 18125 22222 38972)								0.155172	50.481436	70.192621	27	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124358499	124358499	4757	10	G	T	T	T	624	48	DMBT1	2	2
ITGA8	8516	broad.mit.edu	37	10	15648340	15648340	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15648340C>A	uc001ioc.1	-	c.1846G>T	c.(1846-1848)GGC>TGC	p.G616C	ITGA8_uc010qcb.1_Missense_Mutation_p.G601C	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	616	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.095238	2.740176	16.563011	8	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15648340	15648340	8186	10	C	A	A	A	312	24	ITGA8	2	2
GPR158	57512	broad.mit.edu	37	10	25887454	25887454	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25887454C>A	uc001isj.2	+	c.2899C>A	c.(2899-2901)CCA>ACA	p.P967T	GPR158_uc001isk.2_Missense_Mutation_p.P342T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	967	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.191011	34.694364	42.584198	17	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25887454	25887454	6938	10	C	A	A	A	338	26	GPR158	2	2
BMS1	9790	broad.mit.edu	37	10	43325851	43325851	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43325851G>T	uc001jaj.2	+	c.3599G>T	c.(3598-3600)CGC>CTC	p.R1200L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1200					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.212121	30.706198	35.696665	14	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43325851	43325851	1497	10	G	T	T	T	494	38	BMS1	1	1
ZNF488	118738	broad.mit.edu	37	10	48370539	48370539	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48370539G>C	uc001jex.2	+	c.7G>C	c.(7-9)GAG>CAG	p.E3Q	ZNF488_uc001jey.2_5'UTR	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.166667	35.37746	46.070385	17	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48370539	48370539	18534	10	G	C	C	C	429	33	ZNF488	3	3
RBP3	5949	broad.mit.edu	37	10	48388176	48388176	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48388176G>A	uc001jez.2	-	c.2702C>T	c.(2701-2703)GCC>GTC	p.A901V		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	901	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.177215	27.327071	35.064005	14	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48388176	48388176	13626	10	G	A	A	A	546	42	RBP3	2	2
CHAT	1103	broad.mit.edu	37	10	50872957	50872957	+	Silent	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50872957T>C	uc001jhz.2	+	c.2112T>C	c.(2110-2112)TCT>TCC	p.S704S	CHAT_uc001jhv.1_Silent_p.S586S|CHAT_uc001jhx.1_Silent_p.S586S|CHAT_uc001jhy.1_Silent_p.S586S|CHAT_uc001jia.2_Silent_p.S586S|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	704					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)									0.197309	116.634418	135.628861	44	179	KEEP	---	---	---	---	capture		Silent	SNP	50872957	50872957	3447	10	T	C	C	C	678	53	CHAT	4	4
ARID5B	84159	broad.mit.edu	37	10	63850762	63850762	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63850762C>A	uc001jlt.1	+	c.1540C>A	c.(1540-1542)CCA>ACA	p.P514T		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	514					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			ovary(2)|kidney(1)	3	Prostate(12;0.016)|all_hematologic(501;0.215)													0.214286	27.490755	31.696765	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63850762	63850762	937	10	C	A	A	A	286	22	ARID5B	2	2
RUFY2	55680	broad.mit.edu	37	10	70139235	70139235	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70139235C>A	uc001job.2	-	c.1256G>T	c.(1255-1257)CGA>CTA	p.R419L	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Missense_Mutation_p.R350L|RUFY2_uc010qiw.1_Missense_Mutation_p.R326L|RUFY2_uc001jod.1_Missense_Mutation_p.R384L	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	433	Potential.					nucleus	zinc ion binding			ovary(1)	1														0.243902	50.363775	55.270423	20	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70139235	70139235	14219	10	C	A	A	A	403	31	RUFY2	1	1
UNC5B	219699	broad.mit.edu	37	10	73055624	73055624	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73055624G>T	uc001jro.2	+	c.2232G>T	c.(2230-2232)CCG>CCT	p.P744P	UNC5B_uc001jrp.2_Silent_p.P733P	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	744	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3														0.169492	21.821708	27.914131	10	49	KEEP	---	---	---	---	capture		Silent	SNP	73055624	73055624	17550	10	G	T	T	T	483	38	UNC5B	1	1
CDH23	64072	broad.mit.edu	37	10	73544070	73544070	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73544070G>A	uc001jrx.3	+	c.5395G>A	c.(5395-5397)GGG>AGG	p.G1799R		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1799	Cadherin 17.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.171429	9.927449	13.516117	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73544070	73544070	3237	10	G	A	A	A	559	43	CDH23	2	2
ITIH2	3698	broad.mit.edu	37	10	7774354	7774354	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7774354T>A	uc001ijs.2	+	c.1701T>A	c.(1699-1701)GAT>GAA	p.D567E		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	567					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.264151	38.829911	41.492634	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7774354	7774354	8208	10	T	A	A	A	673	52	ITIH2	3	3
ITIH2	3698	broad.mit.edu	37	10	7776944	7776944	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7776944C>A	uc001ijs.2	+	c.1847C>A	c.(1846-1848)TCT>TAT	p.S616Y		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	616					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.127273	8.888823	16.33917	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7776944	7776944	8208	10	C	A	A	A	416	32	ITIH2	2	2
NRG3	10718	broad.mit.edu	37	10	84738801	84738801	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:84738801G>T	uc001kco.2	+	c.1508G>T	c.(1507-1509)GGT>GTT	p.G503V	NRG3_uc010qlz.1_Missense_Mutation_p.G502V|NRG3_uc001kcp.2_Missense_Mutation_p.G282V|NRG3_uc001kcq.2_Missense_Mutation_p.G153V|NRG3_uc001kcr.2_Missense_Mutation_p.G153V	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	503	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity				0				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)										0.15625	10.154858	13.763655	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84738801	84738801	11054	10	G	T	T	T	572	44	NRG3	2	2
OPN4	94233	broad.mit.edu	37	10	88419107	88419107	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88419107T>A	uc010qmk.1	+	c.715T>A	c.(715-717)TTC>ATC	p.F239I	OPN4_uc001kdp.2_Missense_Mutation_p.F239I|OPN4_uc001kdq.2_Missense_Mutation_p.F228I|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	opsin 4 isoform 2	228	Extracellular (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			ovary(1)	1														0.127907	14.484519	26.074962	11	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88419107	88419107	11288	10	T	A	A	A	728	56	OPN4	3	3
HHEX	3087	broad.mit.edu	37	10	94452278	94452278	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94452278A>T	uc001kid.2	+	c.515A>T	c.(514-516)AAG>ATG	p.K172M		NM_002729	NP_002720	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	172	Homeobox.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription by competitive promoter binding|negative regulation of transcription by transcription factor localization|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|promoter binding|protein homodimerization activity|repressing transcription factor binding|TBP-class protein binding			ovary(1)	1														0.206897	14.033045	16.342473	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94452278	94452278	7375	10	A	T	T	T	39	3	HHEX	3	3
RRP12	23223	broad.mit.edu	37	10	99130006	99130006	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99130006C>A	uc001knf.2	-	c.2715G>T	c.(2713-2715)CTG>CTT	p.L905L	RRP12_uc001kne.2_5'Flank|RRP12_uc009xvl.2_Silent_p.L22L|RRP12_uc009xvm.2_Silent_p.L623L|RRP12_uc010qou.1_Silent_p.L844L|RRP12_uc009xvn.2_Silent_p.L805L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	905	Helical; (Potential).					integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)										0.333333	8.221637	8.443224	3	6	KEEP	---	---	---	---	capture		Silent	SNP	99130006	99130006	14166	10	C	A	A	A	366	29	RRP12	2	2
CNTN5	53942	broad.mit.edu	37	11	100226948	100226948	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100226948G>A	uc001pga.2	+	c.3300G>A	c.(3298-3300)TGG>TGA	p.W1100*	CNTN5_uc001pgb.2_Nonsense_Mutation_p.W1026*|CNTN5_uc010ruk.1_Nonsense_Mutation_p.W371*	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	1100					cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.684211	43.480881	44.054097	13	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100226948	100226948	3782	11	G	A	A	A	572	44	CNTN5	5	2
MUC6	4588	broad.mit.edu	37	11	1024936	1024936	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1024936C>G	uc001lsw.2	-	c.3133G>C	c.(3133-3135)GAC>CAC	p.D1045H		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1045	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.107143	3.006861	7.292454	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1024936	1024936	10374	11	C	G	G	G	416	32	MUC6	3	3
MMP10	4319	broad.mit.edu	37	11	102649993	102649993	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102649993G>T	uc001phg.1	-	c.447C>A	c.(445-447)TCC>TCA	p.S149S		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	149					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)										0.203593	77.537659	91.192341	34	133	KEEP	---	---	---	---	capture		Silent	SNP	102649993	102649993	10039	11	G	T	T	T	600	47	MMP10	2	2
EXPH5	23086	broad.mit.edu	37	11	108383784	108383784	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108383784C>T	uc001pkk.2	-	c.2450G>A	c.(2449-2451)AGA>AAA	p.R817K	EXPH5_uc010rvy.1_Missense_Mutation_p.R629K|EXPH5_uc010rvz.1_Missense_Mutation_p.R661K|EXPH5_uc010rwa.1_Missense_Mutation_p.R741K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	817					intracellular protein transport		Rab GTPase binding			ovary(2)	2		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)										0.071429	-1.905003	21.920011	9	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108383784	108383784	5516	11	C	T	T	T	416	32	EXPH5	2	2
FAM55A	120400	broad.mit.edu	37	11	114392937	114392937	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114392937A>G	uc001ppa.2	-	c.971T>C	c.(970-972)CTA>CCA	p.L324P	FAM55A_uc010rxd.1_Missense_Mutation_p.L173P	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	466						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)										0.452381	113.144862	113.290418	38	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114392937	114392937	5806	11	A	G	G	G	195	15	FAM55A	4	4
DSCAML1	57453	broad.mit.edu	37	11	117332232	117332232	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117332232G>T	uc001prh.1	-	c.3526C>A	c.(3526-3528)CGC>AGC	p.R1176S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1116	Fibronectin type-III 3.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.339286	54.578139	55.823827	19	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117332232	117332232	4953	11	G	T	T	T	494	38	DSCAML1	1	1
UBE4A	9354	broad.mit.edu	37	11	118261406	118261406	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118261406G>T	uc001psv.2	+	c.2824G>T	c.(2824-2826)GAT>TAT	p.D942Y	UBE4A_uc001psw.2_Missense_Mutation_p.D935Y	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	935					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|breast(1)|kidney(1)	4	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)										0.358779	127.9911	130.290263	47	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118261406	118261406	17440	11	G	T	T	T	533	41	UBE4A	2	2
OR8G2	26492	broad.mit.edu	37	11	124096034	124096034	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124096034C>A	uc010saf.1	+	c.637C>A	c.(637-639)CTG>ATG	p.L213M		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	olfactory receptor, family 8, subfamily G,	213						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)										0.473684	216.597377	216.687969	72	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124096034	124096034	11646	11	C	A	A	A	415	32	OR8G2	2	2
FOXRED1	55572	broad.mit.edu	37	11	126142964	126142964	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:126142964G>T	uc001qdi.2	+	c.407G>T	c.(406-408)CGG>CTG	p.R136L	FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_Non-coding_Transcript|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Missense_Mutation_p.R122L|FOXRED1_uc001qdk.2_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	136					oxidation-reduction process	integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)										0.413043	60.716209	61.020067	19	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126142964	126142964	6279	11	G	T	T	T	507	39	FOXRED1	1	1
NAV2	89797	broad.mit.edu	37	11	20070532	20070532	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20070532C>T	uc001mpr.3	+	c.4161C>T	c.(4159-4161)AAC>AAT	p.N1387N	NAV2_uc001mpp.2_Silent_p.N1323N|NAV2_uc010rdm.1_Silent_p.N1410N|NAV2_uc001mpt.2_Silent_p.N473N|NAV2_uc009yhx.2_Silent_p.N473N|NAV2_uc009yhy.1_Silent_p.N386N|NAV2_uc009yhz.2_Silent_p.N69N	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1410	Ser-rich.					nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.129032	16.545682	29.001389	12	81	KEEP	---	---	---	---	capture		Silent	SNP	20070532	20070532	10580	11	C	T	T	T	246	19	NAV2	1	1
SLC17A6	57084	broad.mit.edu	37	11	22397560	22397560	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22397560G>C	uc001mqk.2	+	c.1207G>C	c.(1207-1209)GTT>CTT	p.V403L		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	403	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4														0.229508	38.244379	42.317949	14	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22397560	22397560	14917	11	G	C	C	C	520	40	SLC17A6	3	3
ANO3	63982	broad.mit.edu	37	11	26552836	26552836	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26552836G>A	uc001mqt.3	+	c.822G>A	c.(820-822)GAG>GAA	p.E274E	ANO3_uc010rdr.1_Silent_p.E258E|ANO3_uc010rds.1_Silent_p.E113E|ANO3_uc010rdt.1_Silent_p.E128E	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	274	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.115789	13.554005	27.365751	11	84	KEEP	---	---	---	---	capture		Silent	SNP	26552836	26552836	706	11	G	A	A	A	451	35	ANO3	2	2
KCNA4	3739	broad.mit.edu	37	11	30033147	30033147	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30033147T>A	uc001msk.2	-	c.1079A>T	c.(1078-1080)GAG>GTG	p.E360V		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	360						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.095238	3.175424	13.472499	6	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30033147	30033147	8310	11	T	A	A	A	702	54	KCNA4	3	3
WT1	7490	broad.mit.edu	37	11	32456435	32456435	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32456435C>T	uc001mtn.1	-	c.457G>A	c.(457-459)GAG>AAG	p.E153K	WT1_uc001mto.1_Missense_Mutation_p.E153K|WT1_uc001mtp.1_Missense_Mutation_p.E153K|WT1_uc001mtq.1_Missense_Mutation_p.E153K|WT1_uc009yjs.1_Non-coding_Transcript|WIT1_uc010rec.1_5'Flank|WIT1_uc010red.1_5'Flank|WIT1_uc010ree.1_5'Flank	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	85					adrenal gland development|branching involved in ureteric bud morphogenesis|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male gonad development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|positive regulation of gene-specific transcription|sex determination|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|promoter binding|RNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription repressor activity|zinc ion binding	p.W78fs*1(1)	EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(302)|soft_tissue(231)|kidney(132)|pleura(2)|peritoneum(1)|lung(1)	669	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)							684				0.214286	5.722651	6.775187	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32456435	32456435	17982	11	C	T	T	T	403	31	WT1	1	1
ACCSL	390110	broad.mit.edu	37	11	44069626	44069626	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44069626C>G	uc001mxw.1	+	c.40C>G	c.(40-42)CAG>GAG	p.Q14E	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	14							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5														0.272727	45.303174	47.862016	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44069626	44069626	135	11	C	G	G	G	377	29	ACCSL	3	3
OR51V1	283111	broad.mit.edu	37	11	5221650	5221650	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221650A>T	uc010qyz.1	-	c.281T>A	c.(280-282)CTG>CAG	p.L94Q		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.285714	21.177806	22.339653	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5221650	5221650	11517	11	A	T	T	T	91	7	OR51V1	3	3
OR4C6	219432	broad.mit.edu	37	11	55433258	55433258	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55433258G>T	uc001nht.3	+	c.616G>T	c.(616-618)GTG>TTG	p.V206L	OR4C6_uc010rik.1_Missense_Mutation_p.V206L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.408602	114.652879	115.325091	38	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55433258	55433258	11459	11	G	T	T	T	624	48	OR4C6	2	2
OR5L1	219437	broad.mit.edu	37	11	55579239	55579239	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579239G>A	uc001nhw.1	+	c.297G>A	c.(295-297)GTG>GTA	p.V99V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.074074	-4.816464	20.305979	10	125	KEEP	---	---	---	---	capture		Silent	SNP	55579239	55579239	11580	11	G	A	A	A	587	46	OR5L1	2	2
OR5D16	390144	broad.mit.edu	37	11	55607068	55607068	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55607068A>G	uc010rio.1	+	c.841A>G	c.(841-843)ACC>GCC	p.T281A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.188679	20.527933	25.336895	10	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55607068	55607068	11566	11	A	G	G	G	78	6	OR5D16	4	4
SPRYD5	84767	broad.mit.edu	37	11	55658995	55658995	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55658995G>C	uc010rip.1	+	c.1246G>C	c.(1246-1248)GAA>CAA	p.E416Q	SPRYD5_uc010riq.1_Missense_Mutation_p.E273Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	416	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)												0.166667	26.792193	34.347021	12	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55658995	55658995	15625	11	G	C	C	C	585	45	SPRYD5	3	3
OR8I2	120586	broad.mit.edu	37	11	55861580	55861580	+	Nonsense_Mutation	SNP	C	A	A	rs116327084	by1000genomes	TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55861580C>A	uc010rix.1	+	c.797C>A	c.(796-798)TCG>TAG	p.S266*		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)													0.425532	120.832766	121.296292	40	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55861580	55861580	11651	11	C	A	A	A	403	31	OR8I2	5	1
OR8J3	81168	broad.mit.edu	37	11	55904780	55904780	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55904780G>T	uc010riz.1	-	c.415C>A	c.(415-417)CGG>AGG	p.R139R		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00693)													0.457831	119.867886	119.991861	38	45	KEEP	---	---	---	---	capture		Silent	SNP	55904780	55904780	11653	11	G	T	T	T	493	38	OR8J3	1	1
OR5T2	219464	broad.mit.edu	37	11	55999894	55999894	+	Silent	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55999894G>C	uc010rjc.1	-	c.768C>G	c.(766-768)TCC>TCG	p.S256S		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	256	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.327273	93.852253	96.768157	36	74	KEEP	---	---	---	---	capture		Silent	SNP	55999894	55999894	11592	11	G	C	C	C	444	35	OR5T2	3	3
OR8K1	390157	broad.mit.edu	37	11	56113723	56113723	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56113723G>T	uc010rjg.1	+	c.209G>T	c.(208-210)AGA>ATA	p.R70I		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.162963	39.875052	54.443437	22	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56113723	56113723	11654	11	G	T	T	T	429	33	OR8K1	2	2
OR8J1	219477	broad.mit.edu	37	11	56128118	56128118	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56128118C>T	uc010rjh.1	+	c.396C>T	c.(394-396)TAC>TAT	p.Y132Y		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.277108	55.181197	58.898678	23	60	KEEP	---	---	---	---	capture		Silent	SNP	56128118	56128118	11652	11	C	T	T	T	220	17	OR8J1	2	2
OR5AR1	219493	broad.mit.edu	37	11	56432009	56432009	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56432009C>A	uc010rjm.1	+	c.848C>A	c.(847-849)CCC>CAC	p.P283H		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.28	34.126039	36.304138	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56432009	56432009	11555	11	C	A	A	A	286	22	OR5AR1	2	2
SLC43A1	8501	broad.mit.edu	37	11	57261522	57261522	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57261522G>A	uc001nkk.2	-	c.815C>T	c.(814-816)TCG>TTG	p.S272L	SLC43A1_uc001nkl.2_Missense_Mutation_p.S272L	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	272					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0												OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.34375	31.218161	31.906809	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57261522	57261522	15129	11	G	A	A	A	481	37	SLC43A1	1	1
MS4A14	84689	broad.mit.edu	37	11	60183159	60183159	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60183159T>A	uc001npj.2	+	c.718T>A	c.(718-720)TCT>ACT	p.S240T	MS4A14_uc001npi.2_Missense_Mutation_p.S128T|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.S223T|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	240						integral to membrane	receptor activity			breast(1)	1														0.427083	119.809436	120.263297	41	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60183159	60183159	10251	11	T	A	A	A	650	50	MS4A14	3	3
ZP1	22917	broad.mit.edu	37	11	60641165	60641165	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60641165C>T	uc001nqd.2	+	c.1489C>T	c.(1489-1491)CCT>TCT	p.P497S	ZP1_uc001nqe.2_Missense_Mutation_p.P204S	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	497	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0														0.233577	76.621933	85.544639	32	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60641165	60641165	18819	11	C	T	T	T	234	18	ZP1	2	2
DAGLA	747	broad.mit.edu	37	11	61496420	61496420	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61496420G>C	uc001nsa.2	+	c.789G>C	c.(787-789)TTG>TTC	p.L263F		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	263	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)										0.130435	8.313255	14.455754	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61496420	61496420	4393	11	G	C	C	C	607	47	DAGLA	3	3
OR52W1	120787	broad.mit.edu	37	11	6221384	6221384	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6221384G>A	uc010qzz.1	+	c.931G>A	c.(931-933)GAA>AAA	p.E311K		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.092784	6.060583	22.190516	9	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6221384	6221384	11542	11	G	A	A	A	533	41	OR52W1	2	2
AHNAK	79026	broad.mit.edu	37	11	62290506	62290506	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62290506C>A	uc001ntl.2	-	c.11383G>T	c.(11383-11385)GTT>TTT	p.V3795F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3795					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.425197	332.659712	333.895978	108	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62290506	62290506	417	11	C	A	A	A	221	17	AHNAK	2	2
ARL2	402	broad.mit.edu	37	11	64789251	64789251	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64789251T>C	uc001och.3	+	c.479T>C	c.(478-480)GTC>GCC	p.V160A	SNX15_uc001oci.3_Intron	NM_001667	NP_001658	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	160					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding				0														0.333333	22.900482	23.486667	8	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64789251	64789251	950	11	T	C	C	C	754	58	ARL2	4	4
SF3B2	10992	broad.mit.edu	37	11	65819889	65819889	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65819889G>T	uc001ogy.1	+	c.34G>T	c.(34-36)GAA>TAA	p.E12*	SF3B2_uc001ogx.1_Nonsense_Mutation_p.E12*	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	12					interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3														0.148148	11.453855	17.897581	8	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	65819889	65819889	14640	11	G	T	T	T	429	33	SF3B2	5	2
BRMS1	25855	broad.mit.edu	37	11	66108315	66108315	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66108315C>A	uc001oho.1	-	c.465G>T	c.(463-465)ACG>ACT	p.T155T	BRMS1_uc001ohp.1_Silent_p.T155T|BRMS1_uc009yre.2_Missense_Mutation_p.R3L	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 2	155					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						GBM(7;55 307 2662 20856 28942)								0.4	32.8505	33.06737	10	15	KEEP	---	---	---	---	capture		Silent	SNP	66108315	66108315	1547	11	C	A	A	A	340	27	BRMS1	1	1
KDM2A	22992	broad.mit.edu	37	11	67018137	67018137	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67018137A>G	uc001ojw.2	+	c.2636A>G	c.(2635-2637)AAT>AGT	p.N879S	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Missense_Mutation_p.N573S|KDM2A_uc010rpn.1_Missense_Mutation_p.N440S|KDM2A_uc001ojz.1_Missense_Mutation_p.N337S|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	879					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(3)|skin(1)	4														0.307692	34.686565	35.971672	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67018137	67018137	8430	11	A	G	G	G	52	4	KDM2A	4	4
GDPD5	81544	broad.mit.edu	37	11	75155473	75155473	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75155473G>A	uc001owo.3	-	c.782C>T	c.(781-783)GCT>GTT	p.A261V	GDPD5_uc001owp.3_Missense_Mutation_p.A261V|GDPD5_uc001own.3_Missense_Mutation_p.A16V|GDPD5_uc009yuc.2_Missense_Mutation_p.A123V|GDPD5_uc009yud.2_Missense_Mutation_p.A142V|GDPD5_uc009yue.1_Missense_Mutation_p.A149V	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	261	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1														0.085366	2.48074	16.758776	7	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75155473	75155473	6595	11	G	A	A	A	442	34	GDPD5	2	2
DLG2	1740	broad.mit.edu	37	11	83585503	83585503	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:83585503G>T	uc001pak.2	-	c.1525C>A	c.(1525-1527)CAG>AAG	p.Q509K	DLG2_uc001pai.2_Missense_Mutation_p.Q301K|DLG2_uc010rsy.1_Missense_Mutation_p.Q371K|DLG2_uc001paj.2_Missense_Mutation_p.Q404K|DLG2_uc010rsz.1_Missense_Mutation_p.Q404K|DLG2_uc010rta.1_Missense_Mutation_p.Q404K|DLG2_uc010rtb.1_Missense_Mutation_p.Q371K|DLG2_uc001pal.1_Missense_Mutation_p.Q404K|DLG2_uc001pam.1_Missense_Mutation_p.Q443K	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	404						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.230769	20.352694	22.945183	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83585503	83585503	4735	11	G	T	T	T	585	45	DLG2	2	2
GRM5	2915	broad.mit.edu	37	11	88780650	88780650	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88780650C>T	uc001pcq.2	-	c.391G>A	c.(391-393)GAT>AAT	p.D131N	GRM5_uc009yvm.2_Missense_Mutation_p.D131N|GRM5_uc009yvn.1_Missense_Mutation_p.D131N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	131	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.125984	21.241097	38.559926	16	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88780650	88780650	7079	11	C	T	T	T	390	30	GRM5	2	2
FAT3	120114	broad.mit.edu	37	11	92538430	92538430	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92538430C>A	uc001pdj.3	+	c.9008C>A	c.(9007-9009)ACT>AAT	p.T3003N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3003	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.37931	32.31646	32.687489	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92538430	92538430	5927	11	C	A	A	A	260	20	FAT3	2	2
FAT3	120114	broad.mit.edu	37	11	92538488	92538488	+	Silent	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92538488G>C	uc001pdj.3	+	c.9066G>C	c.(9064-9066)GTG>GTC	p.V3022V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3022	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.45	30.88174	30.92368	9	11	KEEP	---	---	---	---	capture		Silent	SNP	92538488	92538488	5927	11	G	C	C	C	574	45	FAT3	3	3
CNTN5	53942	broad.mit.edu	37	11	99942542	99942542	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:99942542G>T	uc001pga.2	+	c.1405G>T	c.(1405-1407)GCT>TCT	p.A469S	CNTN5_uc009ywv.1_Missense_Mutation_p.A469S|CNTN5_uc001pfz.2_Missense_Mutation_p.A469S|CNTN5_uc001pgb.2_Missense_Mutation_p.A395S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	469	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.176471	6.715657	8.391593	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99942542	99942542	3782	11	G	T	T	T	494	38	CNTN5	1	1
CLEC7A	64581	broad.mit.edu	37	12	10277985	10277985	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10277985T>A	uc001qxg.2	-	c.403A>T	c.(403-405)AGC>TGC	p.S135C	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.S89C|CLEC7A_uc001qxh.2_Missense_Mutation_p.S89C|CLEC7A_uc001qxi.2_Missense_Mutation_p.S135C|CLEC7A_uc001qxj.2_Missense_Mutation_p.S56C|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc001qxl.1_Missense_Mutation_p.S135C|CLEC7A_uc010sgy.1_Missense_Mutation_p.S89C|CLEC7A_uc001qxm.1_Missense_Mutation_p.S89C	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	135	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	MHC protein binding|sugar binding			central_nervous_system(1)	1														0.211538	28.023218	32.004148	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10277985	10277985	3659	12	T	A	A	A	715	55	CLEC7A	3	3
C12orf42	374470	broad.mit.edu	37	12	103700025	103700025	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:103700025C>A	uc001tjt.2	-	c.358G>T	c.(358-360)GAT>TAT	p.D120Y	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.D120Y|C12orf42_uc001tju.2_Missense_Mutation_p.D25Y	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	120										ovary(1)|central_nervous_system(1)	2														0.25	15.838627	17.201943	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103700025	103700025	1732	12	C	A	A	A	377	29	C12orf42	2	2
BTBD11	121551	broad.mit.edu	37	12	108010913	108010913	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108010913C>A	uc001tmk.1	+	c.2049C>A	c.(2047-2049)GGC>GGA	p.G683G	BTBD11_uc009zut.1_Silent_p.G683G|BTBD11_uc001tmj.2_Silent_p.G683G|BTBD11_uc001tml.1_Silent_p.G220G	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	683						integral to membrane	DNA binding			ovary(1)	1														0.363636	97.668664	99.069747	32	56	KEEP	---	---	---	---	capture		Silent	SNP	108010913	108010913	1571	12	C	A	A	A	340	27	BTBD11	1	1
FICD	11153	broad.mit.edu	37	12	108912393	108912393	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108912393A>T	uc001tmx.1	+	c.518A>T	c.(517-519)CAT>CTT	p.H173L		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	173	TPR 2.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0														0.425	54.169008	54.365128	17	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108912393	108912393	6125	12	A	T	T	T	104	8	FICD	3	3
MYO1H	283446	broad.mit.edu	37	12	109862553	109862553	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109862553G>T	uc010sxn.1	+	c.1597G>T	c.(1597-1599)GTG>TTG	p.V533L		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.2	9.961891	12.054558	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109862553	109862553	10470	12	G	T	T	T	572	44	MYO1H	2	2
MLXIP	22877	broad.mit.edu	37	12	122612480	122612480	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122612480G>T	uc001ubq.2	+	c.571G>T	c.(571-573)GGC>TGC	p.G191C	MLXIP_uc001ubr.2_5'UTR|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	191	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding|transcription regulator activity			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		Esophageal Squamous(105;787 1493 16200 18566 52466)								0.075	-2.431964	19.728414	9	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122612480	122612480	10026	12	G	T	T	T	507	39	MLXIP	1	1
ATP6V0A2	23545	broad.mit.edu	37	12	124232159	124232159	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124232159G>T	uc001ufr.2	+	c.1611G>T	c.(1609-1611)TGG>TGT	p.W537C		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	537	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)										0.333333	64.945681	66.792919	25	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124232159	124232159	1188	12	G	T	T	T	533	41	ATP6V0A2	2	2
GPR133	283383	broad.mit.edu	37	12	131439195	131439195	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:131439195G>T	uc010tbm.1	+	c.93G>T	c.(91-93)CAG>CAT	p.Q31H	GPR133_uc001uit.3_Missense_Mutation_p.Q31H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	31	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)										0.107692	6.983458	16.899034	7	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131439195	131439195	6917	12	G	T	T	T	451	35	GPR133	2	2
PUS1	80324	broad.mit.edu	37	12	132426239	132426239	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132426239G>T	uc001ujf.2	+	c.947G>T	c.(946-948)CGC>CTC	p.R316L	PUS1_uc001ujg.2_Missense_Mutation_p.R288L|PUS1_uc001ujh.2_Missense_Mutation_p.R288L|PUS1_uc001uji.2_Missense_Mutation_p.R263L	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	316						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		Esophageal Squamous(102;671 2009 17384 45666)								0.264706	71.261798	76.389262	27	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132426239	132426239	13288	12	G	T	T	T	494	38	PUS1	1	1
RERGL	79785	broad.mit.edu	37	12	18234319	18234319	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18234319C>A	uc001rdq.2	-	c.424G>T	c.(424-426)GCA>TCA	p.A142S	RERGL_uc001rdr.2_Missense_Mutation_p.A141S	NM_024730	NP_079006	Q9H628	RERGL_HUMAN	RERG/RAS-like	142	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity				0														0.448276	76.941774	77.076722	26	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18234319	18234319	13702	12	C	A	A	A	338	26	RERGL	2	2
SLCO1C1	53919	broad.mit.edu	37	12	20890125	20890125	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20890125C>A	uc010sii.1	+	c.1467C>A	c.(1465-1467)CCC>CCA	p.P489P	SLCO1C1_uc010sij.1_Silent_p.P440P|SLCO1C1_uc001rej.3_Silent_p.P489P|SLCO1C1_uc009zip.2_Silent_p.P323P|SLCO1C1_uc001rei.2_Silent_p.P489P|SLCO1C1_uc010sik.1_Silent_p.P371P	NM_001145946	NP_001139418	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	489	Extracellular (Potential).|Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.435484	81.914255	82.139511	27	35	KEEP	---	---	---	---	capture		Silent	SNP	20890125	20890125	15222	12	C	A	A	A	262	21	SLCO1C1	2	2
IFLTD1	160492	broad.mit.edu	37	12	25672876	25672876	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25672876G>A	uc010sji.1	-	c.932C>T	c.(931-933)GCT>GTT	p.A311V	IFLTD1_uc001rgs.2_Missense_Mutation_p.A290V|IFLTD1_uc001rgt.1_Missense_Mutation_p.A193V|IFLTD1_uc010sjj.1_Missense_Mutation_p.A227V|IFLTD1_uc009zjc.2_Missense_Mutation_p.A271V	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	290						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)													0.163636	16.839418	22.751516	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25672876	25672876	7831	12	G	A	A	A	442	34	IFLTD1	2	2
ITPR2	3709	broad.mit.edu	37	12	26775287	26775287	+	Silent	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26775287T>C	uc001rhg.2	-	c.3174A>G	c.(3172-3174)TTA>TTG	p.L1058L		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1058	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.222222	29.621419	33.419322	12	42	KEEP	---	---	---	---	capture		Silent	SNP	26775287	26775287	8225	12	T	C	C	C	738	57	ITPR2	4	4
OVCH1	341350	broad.mit.edu	37	12	29614865	29614865	+	Silent	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29614865A>G	uc001rix.1	-	c.2202T>C	c.(2200-2202)TAT>TAC	p.Y734Y		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	734	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.051471	-11.414699	17.468166	7	129	KEEP	---	---	---	---	capture		Silent	SNP	29614865	29614865	11736	12	A	G	G	G	50	4	OVCH1	4	4
CAPRIN2	65981	broad.mit.edu	37	12	30863316	30863316	+	Silent	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30863316A>T	uc001rji.1	-	c.2904T>A	c.(2902-2904)CGT>CGA	p.R968R	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Silent_p.R635R|CAPRIN2_uc001rjh.1_Silent_p.R918R|CAPRIN2_uc001rjj.1_Silent_p.R634R|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	968					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.351282	401.675065	409.275123	137	253	KEEP	---	---	---	---	capture		Silent	SNP	30863316	30863316	2755	12	A	T	T	T	171	14	CAPRIN2	3	3
YARS2	51067	broad.mit.edu	37	12	32908772	32908772	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32908772G>A	uc001rli.2	-	c.37C>T	c.(37-39)CGG>TGG	p.R13W		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	13					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)							OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.157143	22.88512	30.730151	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32908772	32908772	18051	12	G	A	A	A	506	39	YARS2	1	1
PKP2	5318	broad.mit.edu	37	12	32974458	32974458	+	Nonsense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32974458G>C	uc001rlj.3	-	c.1977C>G	c.(1975-1977)TAC>TAG	p.Y659*	PKP2_uc001rlk.3_Nonsense_Mutation_p.Y615*|PKP2_uc010skj.1_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	659					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.09434	3.551884	12.298961	5	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32974458	32974458	12410	12	G	C	C	C	568	44	PKP2	5	3
SYT10	341359	broad.mit.edu	37	12	33532808	33532808	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33532808A>T	uc001rll.1	-	c.1459T>A	c.(1459-1461)TAT>AAT	p.Y487N	SYT10_uc009zju.1_Missense_Mutation_p.Y297N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	487	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.119205	20.143135	41.680138	18	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33532808	33532808	15987	12	A	T	T	T	195	15	SYT10	3	3
CNTN1	1272	broad.mit.edu	37	12	41312565	41312565	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41312565G>A	uc001rmm.1	+	c.219G>A	c.(217-219)CCG>CCA	p.P73P	CNTN1_uc009zjy.1_Silent_p.P73P|CNTN1_uc001rmn.1_Silent_p.P62P|CNTN1_uc001rmo.2_Silent_p.P73P	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	73	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.171171	41.364013	52.704408	19	92	KEEP	---	---	---	---	capture		Silent	SNP	41312565	41312565	3778	12	G	A	A	A	496	39	CNTN1	1	1
CNTN1	1272	broad.mit.edu	37	12	41374864	41374864	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41374864A>T	uc001rmm.1	+	c.1958A>T	c.(1957-1959)AAG>ATG	p.K653M	CNTN1_uc001rmn.1_Missense_Mutation_p.K642M	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	653	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.32	113.56399	117.158058	40	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41374864	41374864	3778	12	A	T	T	T	39	3	CNTN1	3	3
ADAMTS20	80070	broad.mit.edu	37	12	43944935	43944935	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43944935C>A	uc010skx.1	-	c.230G>T	c.(229-231)CGA>CTA	p.R77L		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	77						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				0.25	45.604445	50.214194	20	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43944935	43944935	267	12	C	A	A	A	403	31	ADAMTS20	1	1
PUS7L	83448	broad.mit.edu	37	12	44139883	44139883	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44139883C>T	uc001rnq.3	-	c.1229G>A	c.(1228-1230)AGG>AAG	p.R410K	PUS7L_uc001rnr.3_Missense_Mutation_p.R410K|PUS7L_uc001rns.3_Missense_Mutation_p.R410K|PUS7L_uc009zkb.2_Missense_Mutation_p.R97K	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	410					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)										0.080645	1.840281	12.940228	5	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44139883	44139883	13292	12	C	T	T	T	312	24	PUS7L	2	2
AKAP3	10566	broad.mit.edu	37	12	4736765	4736765	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4736765A>T	uc001qnb.3	-	c.1303T>A	c.(1303-1305)TAT>AAT	p.Y435N		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	435					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(2)|large_intestine(1)|ovary(1)|kidney(1)	5														0.058394	-10.567091	17.388125	8	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4736765	4736765	455	12	A	T	T	T	182	14	AKAP3	3	3
CACNB3	784	broad.mit.edu	37	12	49220592	49220592	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49220592G>T	uc001rsl.1	+	c.945G>T	c.(943-945)CTG>CTT	p.L315L	CACNB3_uc010sly.1_Silent_p.L302L|CACNB3_uc010slz.1_Silent_p.L314L|CACNB3_uc001rsk.1_Silent_p.L162L	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	315					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)									0.390863	216.535124	218.588019	77	120	KEEP	---	---	---	---	capture		Silent	SNP	49220592	49220592	2670	12	G	T	T	T	574	45	CACNB3	2	2
TROAP	10024	broad.mit.edu	37	12	49722798	49722798	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49722798G>T	uc009zlh.2	+	c.980G>T	c.(979-981)GGA>GTA	p.G327V	TROAP_uc001rtx.3_Missense_Mutation_p.G327V|TROAP_uc001rty.2_Missense_Mutation_p.G35V	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	327					cell adhesion	cytoplasm				ovary(1)	1														0.142857	13.909237	22.510762	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49722798	49722798	17126	12	G	T	T	T	533	41	TROAP	2	2
TFCP2	7024	broad.mit.edu	37	12	51495754	51495754	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51495754G>T	uc001rxw.2	-	c.1115C>A	c.(1114-1116)GCA>GAA	p.A372E	TFCP2_uc001rxv.1_Missense_Mutation_p.A372E|TFCP2_uc009zlx.1_Missense_Mutation_p.A321E|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.A274E	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	372	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.168317	29.885345	40.457745	17	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51495754	51495754	16323	12	G	T	T	T	598	46	TFCP2	2	2
KRT5	3852	broad.mit.edu	37	12	52912730	52912730	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52912730T>A	uc001san.2	-	c.770A>T	c.(769-771)AAG>ATG	p.K257M	KRT5_uc009zmh.2_Missense_Mutation_p.K257M	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	257	Rod.|Coil 1B.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.132812	21.683176	38.451427	17	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52912730	52912730	8794	12	T	A	A	A	728	56	KRT5	3	3
ESPL1	9700	broad.mit.edu	37	12	53680397	53680397	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53680397G>T	uc001sck.2	+	c.3877G>T	c.(3877-3879)GGC>TGC	p.G1293C	ESPL1_uc001scj.2_Missense_Mutation_p.G968C|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1293					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)	2						Colon(53;1069 1201 2587 5382)								0.25974	49.096844	53.101859	20	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53680397	53680397	5446	12	G	T	T	T	559	43	ESPL1	2	2
OR6C75	390323	broad.mit.edu	37	12	55759166	55759166	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55759166C>A	uc010spk.1	+	c.272C>A	c.(271-273)TCT>TAT	p.S91Y		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.090909	7.061815	42.328265	19	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55759166	55759166	11609	12	C	A	A	A	416	32	OR6C75	2	2
ITGA7	3679	broad.mit.edu	37	12	56092167	56092167	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56092167C>A	uc001shh.2	-	c.1204G>T	c.(1204-1206)GAT>TAT	p.D402Y	ITGA7_uc001shg.2_Missense_Mutation_p.D398Y|ITGA7_uc010sps.1_Missense_Mutation_p.D305Y|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.D285Y	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	442	Potential.|FG-GAP 6.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4										261				0.230769	12.435394	14.164766	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56092167	56092167	8185	12	C	A	A	A	312	24	ITGA7	2	2
ZBTB39	9880	broad.mit.edu	37	12	57396984	57396984	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57396984C>T	uc001sml.1	-	c.1718G>A	c.(1717-1719)GGG>GAG	p.G573E	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.173913	16.171683	20.788431	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57396984	57396984	18126	12	C	T	T	T	286	22	ZBTB39	2	2
LRP1	4035	broad.mit.edu	37	12	57556762	57556762	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57556762C>T	uc001snd.2	+	c.2526C>T	c.(2524-2526)TGC>TGT	p.C842C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	842	EGF-like 4.|Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.166667	7.788635	10.314481	4	20	KEEP	---	---	---	---	capture		Silent	SNP	57556762	57556762	9324	12	C	T	T	T	363	28	LRP1	2	2
AGAP2	116986	broad.mit.edu	37	12	58124650	58124650	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58124650G>C	uc001spq.2	-	c.2232C>G	c.(2230-2232)ATC>ATG	p.I744M	AGAP2_uc001spp.2_Missense_Mutation_p.I744M|AGAP2_uc001spr.2_Missense_Mutation_p.I408M	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	744	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5										257				0.230769	14.633503	16.36462	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58124650	58124650	370	12	G	C	C	C	421	33	AGAP2	3	3
LRIG3	121227	broad.mit.edu	37	12	59266403	59266403	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:59266403A>G	uc001sqr.2	-	c.3311T>C	c.(3310-3312)TTA>TCA	p.L1104S	LRIG3_uc009zqh.2_Missense_Mutation_p.L1044S|LRIG3_uc010ssh.1_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	1104						integral to membrane				ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.17e-18)											0.170732	32.518838	40.9107	14	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59266403	59266403	9319	12	A	G	G	G	169	13	LRIG3	4	4
C12orf66	144577	broad.mit.edu	37	12	64588415	64588415	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64588415G>T	uc001srw.3	-	c.545C>A	c.(544-546)CCT>CAT	p.P182H	C12orf66_uc009zql.2_Missense_Mutation_p.P129H	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	182										ovary(1)	1														0.27027	25.134275	26.895775	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64588415	64588415	1753	12	G	T	T	T	455	35	C12orf66	2	2
C12orf66	144577	broad.mit.edu	37	12	64615957	64615957	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64615957A>T	uc001srw.3	-	c.61T>A	c.(61-63)TTC>ATC	p.F21I	C12orf66_uc009zql.2_Missense_Mutation_p.F21I	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	21										ovary(1)	1														0.121951	2.643974	8.429459	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64615957	64615957	1753	12	A	T	T	T	26	2	C12orf66	3	3
NAV3	89795	broad.mit.edu	37	12	78574791	78574791	+	Silent	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78574791A>T	uc001syp.2	+	c.5658A>T	c.(5656-5658)CTA>CTT	p.L1886L	NAV3_uc001syo.2_Silent_p.L1864L|NAV3_uc010sub.1_Silent_p.L1343L|NAV3_uc009zsf.2_Silent_p.L695L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1886						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.076923	-0.039669	9.486676	4	48	KEEP	---	---	---	---	capture		Silent	SNP	78574791	78574791	10581	12	A	T	T	T	158	13	NAV3	3	3
FOXJ2	55810	broad.mit.edu	37	12	8201376	8201376	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8201376G>C	uc001qtu.2	+	c.1309G>C	c.(1309-1311)GAG>CAG	p.E437Q	FOXJ2_uc001qtt.1_Missense_Mutation_p.E437Q	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	437					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|nucleus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|skin(1)	3				Kidney(36;0.0944)										0.175	45.698999	57.660527	21	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8201376	8201376	6258	12	G	C	C	C	585	45	FOXJ2	3	3
SLC6A15	55117	broad.mit.edu	37	12	85255538	85255538	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85255538T>G	uc001szv.2	-	c.2066A>C	c.(2065-2067)AAT>ACT	p.N689T	SLC6A15_uc010sul.1_Missense_Mutation_p.N582T|SLC6A15_uc001szw.1_3'UTR	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	689	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3														0.384	150.040238	151.523813	48	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85255538	85255538	15175	12	T	G	G	G	676	52	SLC6A15	4	4
SLC6A15	55117	broad.mit.edu	37	12	85264451	85264451	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85264451T>A	uc001szv.2	-	c.1303_splice	c.e9-1	p.A435_splice	SLC6A15_uc010sul.1_Splice_Site_SNP_p.A328_splice|SLC6A15_uc001szw.1_Splice_Site_SNP_p.A143_splice	NM_182767	NP_877499			solute carrier family 6, member 15 isoform 1						cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3														0.4375	69.769343	69.932575	21	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	85264451	85264451	15175	12	T	A	A	A	715	55	SLC6A15	5	3
EPYC	1833	broad.mit.edu	37	12	91371911	91371911	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91371911G>T	uc001tbk.2	-	c.294C>A	c.(292-294)CCC>CCA	p.P98P		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	98					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding				0												OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.253012	46.426433	51.033017	21	62	KEEP	---	---	---	---	capture		Silent	SNP	91371911	91371911	5394	12	G	T	T	T	548	43	EPYC	2	2
KERA	11081	broad.mit.edu	37	12	91449431	91449431	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91449431T>C	uc001tbl.2	-	c.628A>G	c.(628-630)AGA>GGA	p.R210G		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	210	LRR 6.				response to stimulus|visual perception	proteinaceous extracellular matrix					0														0.090226	7.748726	30.307	12	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91449431	91449431	8449	12	T	C	C	C	726	56	KERA	4	4
PZP	5858	broad.mit.edu	37	12	9316324	9316324	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9316324C>T	uc001qvl.2	-	c.2676G>A	c.(2674-2676)GAG>GAA	p.E892E	PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.142857	12.79372	18.814675	7	42	KEEP	---	---	---	---	capture		Silent	SNP	9316324	9316324	13327	12	C	T	T	T	311	24	PZP	2	2
TMCC3	57458	broad.mit.edu	37	12	94976065	94976065	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:94976065G>T	uc001tdj.2	-	c.328C>A	c.(328-330)CGT>AGT	p.R110S	TMCC3_uc001tdi.2_Missense_Mutation_p.R79S	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	110						integral to membrane				ovary(1)	1														0.315789	70.168256	72.465356	24	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94976065	94976065	16524	12	G	T	T	T	520	40	TMCC3	1	1
NALCN	259232	broad.mit.edu	37	13	101710344	101710344	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101710344G>T	uc001vox.1	-	c.4970C>A	c.(4969-4971)GCA>GAA	p.A1657E		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1657	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.39726	84.522587	85.206552	29	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101710344	101710344	10544	13	G	T	T	T	598	46	NALCN	2	2
COL4A1	1282	broad.mit.edu	37	13	110804758	110804758	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110804758G>T	uc001vqw.3	-	c.4851C>A	c.(4849-4851)CAC>CAA	p.H1617Q	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1617	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.282051	29.416282	31.076287	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110804758	110804758	3827	13	G	T	T	T	516	40	COL4A1	1	1
COL4A1	1282	broad.mit.edu	37	13	110866325	110866325	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110866325C>A	uc001vqw.3	-	c.182G>T	c.(181-183)GGG>GTG	p.G61V	COL4A1_uc010agl.2_Missense_Mutation_p.G61V	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	61					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.329268	69.243421	71.340032	27	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110866325	110866325	3827	13	C	A	A	A	286	22	COL4A1	2	2
TUBGCP3	10426	broad.mit.edu	37	13	113210435	113210435	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113210435T>C	uc001vse.1	-	c.652A>G	c.(652-654)ACC>GCC	p.T218A	TUBGCP3_uc010tjq.1_Missense_Mutation_p.T208A|TUBGCP3_uc001vsf.2_Missense_Mutation_p.T218A|TUBGCP3_uc001vsg.1_Missense_Mutation_p.T218A	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	218					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)													0.461538	59.151663	59.201032	18	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113210435	113210435	17322	13	T	C	C	C	741	57	TUBGCP3	4	4
POSTN	10631	broad.mit.edu	37	13	38161989	38161989	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38161989C>A	uc001uwo.3	-	c.576G>T	c.(574-576)TTG>TTT	p.L192F	POSTN_uc001uwp.3_Missense_Mutation_p.L192F|POSTN_uc001uwr.2_Missense_Mutation_p.L192F|POSTN_uc001uwq.2_Missense_Mutation_p.L192F|POSTN_uc010teu.1_Missense_Mutation_p.L192F|POSTN_uc010tev.1_Missense_Mutation_p.L192F|POSTN_uc010tew.1_Missense_Mutation_p.L192F|POSTN_uc010tex.1_Missense_Mutation_p.L107F	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	192	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.134615	11.094081	17.821173	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38161989	38161989	12688	13	C	A	A	A	272	21	POSTN	2	2
STOML3	161003	broad.mit.edu	37	13	39542642	39542642	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:39542642C>A	uc001uwx.2	-	c.546G>T	c.(544-546)TGG>TGT	p.W182C	STOML3_uc010tez.1_Missense_Mutation_p.W173C	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	182	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)										0.230769	42.675124	47.812993	18	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39542642	39542642	15835	13	C	A	A	A	286	22	STOML3	2	2
ESD	2098	broad.mit.edu	37	13	47354121	47354121	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:47354121C>G	uc001vbn.2	-	c.549G>C	c.(547-549)TGG>TGC	p.W183C	ESD_uc001vbo.2_Missense_Mutation_p.W183C|ESD_uc001vbp.1_Missense_Mutation_p.W41C	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	183						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)									0.373333	82.351744	83.380915	28	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47354121	47354121	5443	13	C	G	G	G	286	22	ESD	3	3
HTR2A	3356	broad.mit.edu	37	13	47466575	47466575	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:47466575G>T	uc001vbq.2	-	c.563C>A	c.(562-564)TCC>TAC	p.S188Y	HTR2A_uc001vbr.2_Missense_Mutation_p.S88Y|HTR2A_uc010acr.2_Missense_Mutation_p.S188Y	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	188	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|central_nervous_system(1)	4		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.166667	89.253929	121.486551	51	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47466575	47466575	7741	13	G	T	T	T	533	41	HTR2A	2	2
ATP7B	540	broad.mit.edu	37	13	52534376	52534376	+	Missense_Mutation	SNP	C	T	T	rs2277447		TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52534376C>T	uc001vfw.2	-	c.2029G>A	c.(2029-2031)GAG>AAG	p.E677K	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Missense_Mutation_p.E566K|ATP7B_uc010tgt.1_Missense_Mutation_p.E677K|ATP7B_uc010tgu.1_Missense_Mutation_p.E677K|ATP7B_uc010tgv.1_Missense_Mutation_p.E677K|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_Intron|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	677	Extracellular (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										0.261905	27.915321	30.063715	11	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52534376	52534376	1210	13	C	T	T	T	403	31	ATP7B	1	1
TBC1D4	9882	broad.mit.edu	37	13	75900386	75900386	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:75900386C>A	uc001vjl.1	-	c.1980G>T	c.(1978-1980)AGG>AGT	p.R660S	TBC1D4_uc010aer.2_Missense_Mutation_p.R660S|TBC1D4_uc010aes.2_Missense_Mutation_p.R660S	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	660						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)	5		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)										0.35	36.931187	37.728114	14	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75900386	75900386	16148	13	C	A	A	A	285	22	TBC1D4	2	2
TBC1D4	9882	broad.mit.edu	37	13	75900391	75900391	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:75900391C>T	uc001vjl.1	-	c.1975G>A	c.(1975-1977)GGG>AGG	p.G659R	TBC1D4_uc010aer.2_Missense_Mutation_p.G659R|TBC1D4_uc010aes.2_Missense_Mutation_p.G659R	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	659						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)	5		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)										0.177778	18.135126	22.485848	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75900391	75900391	16148	13	C	T	T	T	273	21	TBC1D4	2	2
CLDN10	9071	broad.mit.edu	37	13	96230177	96230177	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:96230177C>A	uc001vmh.2	+	c.596C>A	c.(595-597)TCT>TAT	p.S199Y	CLDN10_uc001vmg.2_Missense_Mutation_p.S197Y|CLDN10_uc010tii.1_Missense_Mutation_p.S178Y|DZIP1_uc010afn.2_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	199	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)											0.322581	26.437859	27.305011	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96230177	96230177	3608	13	C	A	A	A	416	32	CLDN10	2	2
SLC15A1	6564	broad.mit.edu	37	13	99356602	99356602	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99356602C>T	uc001vno.2	-	c.1357G>A	c.(1357-1359)GAC>AAC	p.D453N		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	453	Extracellular (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)									0.076923	-3.622523	17.898182	9	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99356602	99356602	14893	13	C	T	T	T	403	31	SLC15A1	1	1
GPR183	1880	broad.mit.edu	37	13	99948054	99948054	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99948054A>T	uc001vog.2	-	c.346T>A	c.(346-348)TAT>AAT	p.Y116N	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	NM_004951	NP_004942	P32249	GP183_HUMAN	EBV-induced G protein-coupled receptor 2	116	Helical; Name=3; (Potential).				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0										30				0.541667	87.154272	87.226908	26	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99948054	99948054	6953	13	A	T	T	T	208	16	GPR183	3	3
AHNAK2	113146	broad.mit.edu	37	14	105416670	105416671	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105416670_105416671GA>TT	uc010axc.1	-	c.5117_5118TC>AA	c.(5116-5118)CTC>CAA	p.L1706Q	AHNAK2_uc001ypx.2_Missense_Mutation_p.L1606Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1706						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.142857	19.002258	27.605501	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	105416670	105416671	418	14	GA	TT	TT	TT	574	45	AHNAK2	2	2
OR11H12	440153	broad.mit.edu	37	14	19378090	19378090	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:19378090G>T	uc010tkp.1	+	c.497G>T	c.(496-498)TGT>TTT	p.C166F		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	166	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.043605	-43.230753	33.495539	15	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19378090	19378090	11333	14	G	T	T	T	624	48	OR11H12	2	2
OR4Q3	441669	broad.mit.edu	37	14	20216001	20216002	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20216001_20216002CC>AA	uc010tkt.1	+	c.415_416CC>AA	c.(415-417)CCC>AAC	p.P139N		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.068966	-3.297982	13.387264	6	81	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	20216001	20216002	11491	14	CC	AA	AA	AA	286	22	OR4Q3	2	2
OR4K1	79544	broad.mit.edu	37	14	20404494	20404494	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20404494C>A	uc001vwj.1	+	c.669C>A	c.(667-669)ATC>ATA	p.I223I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.108333	11.197892	29.437752	13	107	KEEP	---	---	---	---	capture		Silent	SNP	20404494	20404494	11477	14	C	A	A	A	395	31	OR4K1	1	1
GZMB	3002	broad.mit.edu	37	14	25101073	25101073	+	Silent	SNP	A	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:25101073A>C	uc001wps.2	-	c.591T>G	c.(589-591)ACT>ACG	p.T197T	GZMB_uc010ama.2_Silent_p.T185T|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	197	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.028)										0.067416	-3.697727	13.526636	6	83	KEEP	---	---	---	---	capture		Silent	SNP	25101073	25101073	7196	14	A	C	C	C	28	3	GZMB	4	4
HECTD1	25831	broad.mit.edu	37	14	31570180	31570180	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31570180G>A	uc001wrc.1	-	c.7789C>T	c.(7789-7791)CGC>TGC	p.R2597C	HECTD1_uc001wra.1_Missense_Mutation_p.R723C|HECTD1_uc001wrb.1_Missense_Mutation_p.R723C	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2597	HECT.				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)										0.092105	2.588132	15.302824	7	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31570180	31570180	7322	14	G	A	A	A	494	38	HECTD1	1	1
FANCM	57697	broad.mit.edu	37	14	45605533	45605533	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45605533G>T	uc001wwd.3	+	c.299G>T	c.(298-300)CGG>CTG	p.R100L	FANCM_uc001wwc.2_Missense_Mutation_p.R100L|FANCM_uc010anf.2_Missense_Mutation_p.R100L|FKBP3_uc010tqf.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	100	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.16129	19.310659	26.078211	10	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45605533	45605533	5907	14	G	T	T	T	507	39	FANCM	1	1
DLGAP5	9787	broad.mit.edu	37	14	55650349	55650349	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55650349C>G	uc001xbs.2	-	c.361G>C	c.(361-363)GGT>CGT	p.G121R	DLGAP5_uc001xbt.2_Missense_Mutation_p.G121R	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	121					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)	1														0.317073	37.95951	39.179893	13	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55650349	55650349	4743	14	C	G	G	G	286	22	DLGAP5	3	3
KCNH5	27133	broad.mit.edu	37	14	63269193	63269193	+	Missense_Mutation	SNP	A	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63269193A>C	uc001xfx.2	-	c.1676T>G	c.(1675-1677)CTG>CGG	p.L559R	KCNH5_uc001xfy.2_Missense_Mutation_p.L559R|KCNH5_uc001xfz.1_Missense_Mutation_p.L501R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	559	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)										0.142857	8.156531	14.298767	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63269193	63269193	8340	14	A	C	C	C	91	7	KCNH5	4	4
ESR2	2100	broad.mit.edu	37	14	64735616	64735616	+	Silent	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64735616A>G	uc001xha.1	-	c.549T>C	c.(547-549)TAT>TAC	p.Y183Y	ESR2_uc001xgu.2_Silent_p.Y183Y|ESR2_uc001xgv.2_Silent_p.Y183Y|ESR2_uc001xgw.2_Non-coding_Transcript|ESR2_uc001xgx.2_Silent_p.Y183Y|ESR2_uc001xgy.1_Silent_p.Y183Y|ESR2_uc001xgz.1_Silent_p.Y183Y|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Silent_p.Y183Y	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	183	Nuclear receptor.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)					196				0.185714	29.738682	36.21747	13	57	KEEP	---	---	---	---	capture		Silent	SNP	64735616	64735616	5450	14	A	G	G	G	206	16	ESR2	4	4
TTLL5	23093	broad.mit.edu	37	14	76211925	76211925	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76211925G>T	uc010ask.1	+	c.1529_splice	c.e18+1	p.G510_splice	TTLL5_uc001xrx.2_Splice_Site_SNP_p.G496_splice|TTLL5_uc001xrz.2_Splice_Site_SNP_p.G58_splice|TTLL5_uc001xry.1_Splice_Site_SNP	NM_015072	NP_055887			tubulin tyrosine ligase-like family, member 5						protein modification process|transcription, DNA-dependent	cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)										0.192308	12.264024	14.559353	5	21	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	76211925	76211925	17285	14	G	T	T	T	572	44	TTLL5	5	2
NRXN3	9369	broad.mit.edu	37	14	79432593	79432593	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:79432593C>T	uc001xun.2	+	c.1502C>T	c.(1501-1503)ACC>ATC	p.T501I	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.T626I	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	874	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.134615	10.027405	16.727482	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79432593	79432593	11072	14	C	T	T	T	234	18	NRXN3	2	2
GALC	2581	broad.mit.edu	37	14	88407756	88407756	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88407756C>T	uc001xvt.2	-	c.1817G>A	c.(1816-1818)AGG>AAG	p.R606K	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvx.1_Missense_Mutation_p.R580K|GALC_uc010tvy.1_Missense_Mutation_p.R583K|GALC_uc010tvz.1_Missense_Mutation_p.R550K	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	606					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0														0.072581	-5.035265	18.506977	9	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88407756	88407756	6465	14	C	T	T	T	312	24	GALC	2	2
RPS6KA5	9252	broad.mit.edu	37	14	91360853	91360853	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91360853G>A	uc001xys.2	-	c.1548C>T	c.(1546-1548)TTC>TTT	p.F516F	RPS6KA5_uc010twi.1_Silent_p.F437F|RPS6KA5_uc001xyt.2_Silent_p.F516F	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	516	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)						302				0.072727	-0.64278	9.68519	4	51	KEEP	---	---	---	---	capture		Silent	SNP	91360853	91360853	14134	14	G	A	A	A	581	45	RPS6KA5	2	2
KIAA1409	57578	broad.mit.edu	37	14	94155059	94155059	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94155059G>A	uc001ybv.1	+	c.6610G>A	c.(6610-6612)GGA>AGA	p.G2204R	KIAA1409_uc001ybs.1_Missense_Mutation_p.G2182R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2359						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.104167	1.528158	9.050716	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94155059	94155059	8539	14	G	A	A	A	559	43	KIAA1409	2	2
OR4F15	390649	broad.mit.edu	37	15	102358610	102358610	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:102358610G>T	uc010uts.1	+	c.221G>T	c.(220-222)TGC>TTC	p.C74F		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)											0.072539	-6.789108	29.509629	14	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102358610	102358610	11468	15	G	T	T	T	598	46	OR4F15	2	2
GABRB3	2562	broad.mit.edu	37	15	26806155	26806155	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:26806155C>A	uc001zbb.2	-	c.1172G>T	c.(1171-1173)GGC>GTC	p.G391V	GABRB3_uc010uae.1_Missense_Mutation_p.G250V|GABRB3_uc001zaz.2_Missense_Mutation_p.G335V|GABRB3_uc001zba.2_Missense_Mutation_p.G335V	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	335	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.158537	19.306494	28.493758	13	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26806155	26806155	6419	15	C	A	A	A	338	26	GABRB3	2	2
RYR3	6263	broad.mit.edu	37	15	34023790	34023790	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34023790C>T	uc001zhi.2	+	c.7319C>T	c.(7318-7320)TCT>TTT	p.S2440F	RYR3_uc010bar.2_Missense_Mutation_p.S2440F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2440	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)										0.2	7.91616	9.171752	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34023790	34023790	14250	15	C	T	T	T	416	32	RYR3	2	2
RYR3	6263	broad.mit.edu	37	15	34157385	34157385	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34157385C>A	uc001zhi.2	+	c.14571C>A	c.(14569-14571)GCC>GCA	p.A4857A	RYR3_uc010bar.2_Silent_p.A4852A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4857					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)										0.282051	30.507266	32.172988	11	28	KEEP	---	---	---	---	capture		Silent	SNP	34157385	34157385	14250	15	C	A	A	A	288	23	RYR3	1	1
CILP	8483	broad.mit.edu	37	15	65489641	65489641	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65489641C>T	uc002aon.2	-	c.2983G>A	c.(2983-2985)GAC>AAC	p.D995N		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	995					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)	6														0.270833	35.165831	37.431769	13	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65489641	65489641	3563	15	C	T	T	T	390	30	CILP	2	2
CILP	8483	broad.mit.edu	37	15	65491332	65491332	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65491332C>A	uc002aon.2	-	c.1292G>T	c.(1291-1293)CGC>CTC	p.R431L		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	431					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)	6														0.254902	35.45388	38.231355	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65491332	65491332	3563	15	C	A	A	A	351	27	CILP	1	1
IGDCC4	57722	broad.mit.edu	37	15	65682492	65682492	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65682492C>A	uc002aou.1	-	c.2408_splice	c.e13+1	p.S803_splice	IGDCC4_uc002aot.1_Splice_Site_SNP_p.S391_splice	NM_020962	NP_066013			immunoglobulin superfamily, DCC subclass, member							integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.127273	9.724353	17.145742	7	48	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	65682492	65682492	7870	15	C	A	A	A	234	18	IGDCC4	5	2
MAP2K1	5604	broad.mit.edu	37	15	66729175	66729175	+	Missense_Mutation	SNP	G	T	T	rs121908596		TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:66729175G>T	uc010bhq.2	+	c.383G>T	c.(382-384)GGC>GTC	p.G128V	MAP2K1_uc010ujp.1_Missense_Mutation_p.G106V	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	128	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0										667				0.209677	25.838486	30.681477	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66729175	66729175	9619	15	G	T	T	T	546	42	MAP2K1	2	2
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:72190946G>A	uc002atl.3	-	c.3898C>T	c.(3898-3900)CCT>TCT	p.P1300S	MYO9A_uc010biq.2_Missense_Mutation_p.P920S|MYO9A_uc002atn.1_Missense_Mutation_p.P1281S|MYO9A_uc002atk.2_Missense_Mutation_p.P24S|MYO9A_uc002atm.1_Missense_Mutation_p.P24S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3														0.372549	107.776785	109.248822	38	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72190946	72190946	10479	15	G	A	A	A	533	41	MYO9A	2	2
TMC3	342125	broad.mit.edu	37	15	81637141	81637142	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81637141_81637142GG>AT	uc002bgo.1	-	c.1483_1484CC>AT	c.(1483-1485)CCA>ATA	p.P495I	TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.2_Missense_Mutation_p.P495I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	495	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2														0.146341	10.740767	15.654593	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	81637141	81637142	16516	15	GG	AT	AT	AT	611	47	TMC3	2	2
SH3GL3	6457	broad.mit.edu	37	15	84286922	84286922	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84286922G>A	uc002bju.2	+	c.951G>A	c.(949-951)GGG>GGA	p.G317G	SH3GL3_uc002bjw.2_Silent_p.G309G|SH3GL3_uc002bjx.2_Silent_p.G240G|SH3GL3_uc002bjv.2_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	309	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|pancreas(1)	2														0.333333	55.522074	56.916344	19	38	KEEP	---	---	---	---	capture		Silent	SNP	84286922	84286922	14744	15	G	A	A	A	548	43	SH3GL3	2	2
NTRK3	4916	broad.mit.edu	37	15	88472601	88472601	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88472601C>G	uc002bme.1	-	c.1954G>C	c.(1954-1956)GGG>CGG	p.G652R	NTRK3_uc002bmh.2_Missense_Mutation_p.G644R|NTRK3_uc002bmf.1_Missense_Mutation_p.G652R|NTRK3_uc010upl.1_Missense_Mutation_p.G554R|NTRK3_uc010bnh.1_Missense_Mutation_p.G644R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	652	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)							506	TSP Lung(13;0.10)			0.171429	12.647662	16.204296	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88472601	88472601	11113	15	C	G	G	G	286	22	NTRK3	3	3
ST8SIA2	8128	broad.mit.edu	37	15	92988137	92988137	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:92988137C>A	uc002bra.2	+	c.820C>A	c.(820-822)CGC>AGC	p.R274S	ST8SIA2_uc002brb.2_Missense_Mutation_p.R253S	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	274	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)											0.128205	12.346503	22.89788	10	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92988137	92988137	15750	15	C	A	A	A	351	27	ST8SIA2	1	1
PARN	5073	broad.mit.edu	37	16	14687236	14687236	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14687236C>A	uc010uzd.1	-	c.841_splice	c.e13-1	p.G281_splice	PARN_uc010uzc.1_Splice_Site_SNP_p.G220_splice|PARN_uc010uze.1_Splice_Site_SNP_p.G235_splice|PARN_uc010uzf.1_Splice_Site_SNP_p.G106_splice	NM_002582	NP_002573			poly(A)-specific ribonuclease (deadenylation						female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2														0.157895	5.311895	7.433103	3	16	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	14687236	14687236	11870	16	C	A	A	A	312	24	PARN	5	2
XYLT1	64131	broad.mit.edu	37	16	17202798	17202798	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17202798G>T	uc002dfa.2	-	c.2634C>A	c.(2632-2634)GTC>GTA	p.V878V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	878	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.242424	32.305362	36.367211	16	50	KEEP	---	---	---	---	capture		Silent	SNP	17202798	17202798	18046	16	G	T	T	T	522	41	XYLT1	2	2
XYLT1	64131	broad.mit.edu	37	16	17292209	17292209	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17292209G>T	uc002dfa.2	-	c.1149C>A	c.(1147-1149)GTC>GTA	p.V383V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	383	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.138889	7.266557	11.790591	5	31	KEEP	---	---	---	---	capture		Silent	SNP	17292209	17292209	18046	16	G	T	T	T	574	45	XYLT1	2	2
ZP2	7783	broad.mit.edu	37	16	21213478	21213478	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21213478G>A	uc010bwn.1	-	c.1351C>T	c.(1351-1353)CAG>TAG	p.Q451*	ZP2_uc002dii.2_Nonsense_Mutation_p.Q412*	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	412	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0573)										0.130435	7.033466	13.137803	6	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21213478	21213478	18820	16	G	A	A	A	585	45	ZP2	5	2
HBA2	3040	broad.mit.edu	37	16	223544	223544	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:223544C>T	uc002cfv.3	+	c.374C>T	c.(373-375)TCC>TTC	p.S125F	HBA2_uc002cfw.2_Intron	NM_000517	NP_000508	P69905	HBA_HUMAN	alpha 2 globin	125					hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding				0		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	GBM(107;1340 2104 14383 27419)						OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.16129	9.854421	13.238516	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223544	223544	7259	16	C	T	T	T	390	30	HBA2	2	2
CASKIN1	57524	broad.mit.edu	37	16	2239498	2239498	+	Silent	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2239498C>G	uc010bsg.1	-	c.312G>C	c.(310-312)GCG>GCC	p.A104A		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	104	ANK 2.				signal transduction	cytoplasm					0														0.2	10.697511	13.647184	7	28	KEEP	---	---	---	---	capture		Silent	SNP	2239498	2239498	2785	16	C	G	G	G	288	23	CASKIN1	3	3
EARS2	124454	broad.mit.edu	37	16	23540889	23540889	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23540889G>A	uc002dlu.2	-	c.1286C>T	c.(1285-1287)GCA>GTA	p.A429V	EARS2_uc002dlr.3_Non-coding_Transcript|EARS2_uc002dls.3_Non-coding_Transcript|EARS2_uc002dlt.3_Missense_Mutation_p.A429V	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	429					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)									0.125	6.616689	13.213658	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23540889	23540889	5064	16	G	A	A	A	598	46	EARS2	2	2
ERN2	10595	broad.mit.edu	37	16	23712312	23712312	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23712312G>A	uc002dma.3	-	c.1471C>T	c.(1471-1473)CTG>TTG	p.L491L	ERN2_uc010bxp.2_Intron|ERN2_uc010bxq.1_Silent_p.L299L	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	443	Helical; (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|protein phosphorylation|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)						225				0.122449	9.314841	16.152763	6	43	KEEP	---	---	---	---	capture		Silent	SNP	23712312	23712312	5431	16	G	A	A	A	451	35	ERN2	2	2
ERN2	10595	broad.mit.edu	37	16	23713533	23713533	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23713533C>A	uc002dma.3	-	c.1287G>T	c.(1285-1287)GGG>GGT	p.G429G	ERN2_uc010bxp.2_Silent_p.G429G|ERN2_uc010bxq.1_Silent_p.G237G	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	381	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|protein phosphorylation|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)						225				0.254717	61.382634	67.167208	27	79	KEEP	---	---	---	---	capture		Silent	SNP	23713533	23713533	5431	16	C	A	A	A	379	30	ERN2	2	2
ITGAX	3687	broad.mit.edu	37	16	31371363	31371363	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31371363G>T	uc002ebt.2	+	c.684G>T	c.(682-684)ACG>ACT	p.T228T	ITGAX_uc002ebu.1_Silent_p.T228T|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	228	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.202532	38.475774	44.953447	16	63	KEEP	---	---	---	---	capture		Silent	SNP	31371363	31371363	8193	16	G	T	T	T	496	39	ITGAX	1	1
OR2C1	4993	broad.mit.edu	37	16	3406339	3406339	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3406339C>T	uc002cuw.1	+	c.399C>T	c.(397-399)ACC>ACT	p.T133T		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.122807	7.290387	15.238979	7	50	KEEP	---	---	---	---	capture		Silent	SNP	3406339	3406339	11398	16	C	T	T	T	288	23	OR2C1	1	1
OR2C1	4993	broad.mit.edu	37	16	3406478	3406478	+	Nonsense_Mutation	SNP	G	T	T	rs113396384		TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3406478G>T	uc002cuw.1	+	c.538G>T	c.(538-540)GAG>TAG	p.E180*		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.139785	19.437007	31.074833	13	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3406478	3406478	11398	16	G	T	T	T	481	37	OR2C1	5	1
BTBD12	84464	broad.mit.edu	37	16	3640110	3640110	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3640110C>A	uc002cvp.2	-	c.3529G>T	c.(3529-3531)GAA>TAA	p.E1177*		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1177	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0														0.189024	62.969224	77.779783	31	133	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3640110	3640110	1572	16	C	A	A	A	390	30	BTBD12	5	2
MYLK3	91807	broad.mit.edu	37	16	46743503	46743503	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46743503C>A	uc002eei.3	-	c.2348G>T	c.(2347-2349)CGT>CTT	p.R783L	MYLK3_uc010vge.1_Missense_Mutation_p.R442L	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	783					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|protein phosphorylation|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)							p.R783H(ISHIKAWAHERAKLIO02ER-Tumor)	207				0.350877	125.677965	127.9088	40	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46743503	46743503	10453	16	C	A	A	A	247	19	MYLK3	1	1
MYLK3	91807	broad.mit.edu	37	16	46781731	46781731	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46781731G>A	uc002eei.3	-	c.375C>T	c.(373-375)ATC>ATT	p.I125I	MYLK3_uc010vge.1_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	125					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|protein phosphorylation|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)								207				0.152174	11.038357	16.340637	7	39	KEEP	---	---	---	---	capture		Silent	SNP	46781731	46781731	10453	16	G	A	A	A	473	37	MYLK3	1	1
PHKB	5257	broad.mit.edu	37	16	47622890	47622890	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:47622890G>T	uc002eev.3	+	c.945G>T	c.(943-945)CAG>CAT	p.Q315H	PHKB_uc002eeu.3_Missense_Mutation_p.Q308H	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	315					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)												0.157895	14.948897	21.302964	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47622890	47622890	12269	16	G	T	T	T	425	33	PHKB	2	2
CDH11	1009	broad.mit.edu	37	16	64981687	64981687	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:64981687T>C	uc002eoi.2	-	c.2210A>G	c.(2209-2211)TAT>TGT	p.Y737C	CDH11_uc010cdn.2_Non-coding_Transcript|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.Y611C	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	737	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.223404	53.536544	60.152237	21	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64981687	64981687	3226	16	T	C	C	C	637	49	CDH11	4	4
NAE1	8883	broad.mit.edu	37	16	66842457	66842457	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66842457C>G	uc010cdv.2	-	c.1306G>C	c.(1306-1308)GAT>CAT	p.D436H	NAE1_uc002eqe.2_Missense_Mutation_p.D427H|NAE1_uc002eqf.2_Missense_Mutation_p.D433H|NAE1_uc002eqg.2_Missense_Mutation_p.D344H	NM_001018160	NP_001018170	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1 isoform c	433					apoptosis|cell cycle|DNA replication|protein neddylation|S-M checkpoint	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)									0.082645	3.181659	24.613552	10	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66842457	66842457	10535	16	C	G	G	G	377	29	NAE1	3	3
PDP2	57546	broad.mit.edu	37	16	66918897	66918897	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66918897G>T	uc002eqk.1	+	c.710G>T	c.(709-711)AGA>ATA	p.R237I		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	237					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)										0.372549	52.134859	52.853117	19	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66918897	66918897	12107	16	G	T	T	T	429	33	PDP2	2	2
C16orf70	80262	broad.mit.edu	37	16	67179530	67179530	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67179530A>T	uc002erc.2	+	c.1108A>T	c.(1108-1110)AGG>TGG	p.R370W	C16orf70_uc002erd.2_Missense_Mutation_p.R370W	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	370										ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)										0.25	30.476542	33.204219	12	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67179530	67179530	1882	16	A	T	T	T	88	7	C16orf70	3	3
ZFP90	146198	broad.mit.edu	37	16	68598220	68598220	+	Silent	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68598220A>T	uc010cff.2	+	c.1530A>T	c.(1528-1530)ACA>ACT	p.T510T	ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.T510T|ZFP90_uc002ewe.2_Silent_p.T510T	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	510	C2H2-type 9.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)										0.387097	70.548699	71.252352	24	38	KEEP	---	---	---	---	capture		Silent	SNP	68598220	68598220	18243	16	A	T	T	T	54	5	ZFP90	3	3
KARS	3735	broad.mit.edu	37	16	75665353	75665353	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75665353C>A	uc002fer.2	-	c.1297G>T	c.(1297-1299)GGG>TGG	p.G433W	KARS_uc002feq.2_Missense_Mutation_p.G405W|KARS_uc002fes.2_Missense_Mutation_p.G249W	NM_001130089	NP_001123561	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 1	405					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)									0.24	44.710627	49.339654	18	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75665353	75665353	8284	16	C	A	A	A	286	22	KARS	2	2
CNTNAP4	85445	broad.mit.edu	37	16	76569483	76569483	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76569483C>A	uc002fex.1	+	c.2806C>A	c.(2806-2808)CGG>AGG	p.R936R	CNTNAP4_uc002feu.1_Silent_p.R933R|CNTNAP4_uc002fev.1_Silent_p.R797R|CNTNAP4_uc010chb.1_Silent_p.R860R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	933	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.25	33.167852	36.407257	14	42	KEEP	---	---	---	---	capture		Silent	SNP	76569483	76569483	3787	16	C	A	A	A	399	31	CNTNAP4	1	1
FOXL1	2300	broad.mit.edu	37	16	86612497	86612497	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:86612497G>A	uc002fjr.2	+	c.168G>A	c.(166-168)GCG>GCA	p.A56A		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	56	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						NSCLC(163;308 2020 10889 11476 18208)								0.18	18.766075	23.564498	9	41	KEEP	---	---	---	---	capture		Silent	SNP	86612497	86612497	6262	16	G	A	A	A	483	38	FOXL1	1	1
MYH13	8735	broad.mit.edu	37	17	10206554	10206554	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10206554G>T	uc002gmk.1	-	c.5626C>A	c.(5626-5628)CAG>AAG	p.Q1876K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1876	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.073171	-2.419047	20.617802	9	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10206554	10206554	10427	17	G	T	T	T	598	46	MYH13	2	2
MYH13	8735	broad.mit.edu	37	17	10222286	10222287	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10222286_10222287GG>TT	uc002gmk.1	-	c.3558_3559CC>AA	c.(3556-3561)ACCCTG>ACAATG	p.L1187M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1187	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.111111	10.545392	26.734216	12	96	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	10222286	10222287	10427	17	GG	TT	TT	TT	451	35	MYH13	2	2
MYH8	4626	broad.mit.edu	37	17	10309708	10309708	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10309708C>A	uc002gmm.2	-	c.2178G>T	c.(2176-2178)AAG>AAT	p.K726N		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	726	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.147059	8.051289	12.12144	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10309708	10309708	10436	17	C	A	A	A	311	24	MYH8	2	2
DNAH9	1770	broad.mit.edu	37	17	11659961	11659961	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11659961G>T	uc002gne.2	+	c.6815G>T	c.(6814-6816)CGC>CTC	p.R2272L	DNAH9_uc010coo.2_Missense_Mutation_p.R1566L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2272	AAA 2 (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)										0.078652	0.380192	16.499179	7	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11659961	11659961	4791	17	G	T	T	T	494	38	DNAH9	1	1
CDRT15	146822	broad.mit.edu	37	17	14140027	14140027	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:14140027T>C	uc010vvu.1	-	c.124A>G	c.(124-126)ATA>GTA	p.I42V	CDRT15_uc010coq.2_Non-coding_Transcript	NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	42											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)										0.166667	5.813824	7.710045	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14140027	14140027	3304	17	T	C	C	C	676	52	CDRT15	4	4
LLGL1	3996	broad.mit.edu	37	17	18141833	18141833	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18141833G>T	uc002gsp.2	+	c.2116G>T	c.(2116-2118)GTG>TTG	p.V706L		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	706					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|ovary(1)|skin(1)	4	all_neural(463;0.228)													0.172414	10.161745	13.098916	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18141833	18141833	9162	17	G	T	T	T	520	40	LLGL1	1	1
MAPK7	5598	broad.mit.edu	37	17	19284391	19284391	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19284391G>T	uc002gvn.2	+	c.869G>T	c.(868-870)GGG>GTG	p.G290V	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.G151V|MAPK7_uc002gvq.2_Missense_Mutation_p.G290V|MAPK7_uc002gvp.2_Missense_Mutation_p.G290V	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	290	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(3)|lung(1)|skin(1)	5	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)									176				0.090909	1.663681	9.090943	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19284391	19284391	9665	17	G	T	T	T	559	43	MAPK7	2	2
GOSR1	9527	broad.mit.edu	37	17	28811679	28811679	+	Splice_Site_SNP	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28811679A>G	uc002hfe.2	+	c.241_splice	c.e4-2	p.L81_splice	GOSR1_uc002hfd.2_Splice_Site_SNP_p.L79_splice|GOSR1_uc002hff.2_Splice_Site_SNP_p.L16_splice|GOSR1_uc002hfc.1_Splice_Site_SNP_p.L81_splice	NM_004871	NP_004862			golgi SNAP receptor complex member 1 isoform 1						intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0														0.166667	7.244401	9.728201	4	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	28811679	28811679	6850	17	A	G	G	G	195	15	GOSR1	5	4
OR1E1	8387	broad.mit.edu	37	17	3301242	3301242	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3301242G>A	uc002fvj.1	-	c.463C>T	c.(463-465)CAT>TAT	p.H155Y		NM_003553	NP_003544	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.192308	10.058469	12.358643	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3301242	3301242	11360	17	G	A	A	A	611	47	OR1E1	2	2
LYZL6	57151	broad.mit.edu	37	17	34261816	34261816	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34261816C>T	uc002hkj.1	-	c.431G>A	c.(430-432)GGA>GAA	p.G144E	LYZL6_uc002hkk.1_Missense_Mutation_p.G144E	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	144					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.186441	22.594179	28.027201	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34261816	34261816	9511	17	C	T	T	T	390	30	LYZL6	2	2
KRT24	192666	broad.mit.edu	37	17	38856534	38856534	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38856534C>A	uc002hvd.2	-	c.957G>T	c.(955-957)GCG>GCT	p.A319A		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	319	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				GBM(61;380 1051 14702 23642 31441)								0.120419	27.567525	54.49584	23	168	KEEP	---	---	---	---	capture		Silent	SNP	38856534	38856534	8776	17	C	A	A	A	340	27	KRT24	1	1
KRTAP9-8	83901	broad.mit.edu	37	17	39394429	39394429	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39394429C>T	uc002hwh.3	+	c.126C>T	c.(124-126)TGC>TGT	p.C42C	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	42	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)											0.232143	30.153366	33.829467	13	43	KEEP	---	---	---	---	capture		Silent	SNP	39394429	39394429	8899	17	C	T	T	T	363	28	KRTAP9-8	2	2
CBX1	10951	broad.mit.edu	37	17	46148849	46148849	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46148849G>T	uc002ind.3	-	c.506C>A	c.(505-507)ACG>AAG	p.T169K	CBX1_uc002ine.3_Missense_Mutation_p.T169K	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	169	Chromo 2; shadow subtype.				chromatin assembly or disassembly	nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						NSCLC(136;694 2497 38792 39034)								0.156863	17.076499	22.797921	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46148849	46148849	2836	17	G	T	T	T	520	40	CBX1	1	1
HOXB3	3213	broad.mit.edu	37	17	46628343	46628343	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46628343G>C	uc002inn.2	-	c.649C>G	c.(649-651)CGC>GGC	p.R217G	HOXB3_uc010wlm.1_Missense_Mutation_p.R144G|HOXB3_uc010dbf.2_Missense_Mutation_p.R217G|HOXB3_uc010dbg.2_Missense_Mutation_p.R217G|HOXB3_uc002ino.2_Missense_Mutation_p.R217G|HOXB3_uc010wlk.1_Missense_Mutation_p.R85G|HOXB3_uc010wll.1_Missense_Mutation_p.R144G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	217	Homeobox.				angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.09375	7.72423	23.627962	9	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46628343	46628343	7594	17	G	C	C	C	481	37	HOXB3	3	3
MRPL27	51264	broad.mit.edu	37	17	48445530	48445530	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48445530C>A	uc002iqq.2	-	c.370G>T	c.(370-372)GCT>TCT	p.A124S	MRPL27_uc002iqr.2_3'UTR	NM_016504	NP_057588	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	124					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)											0.456522	59.498264	59.56855	21	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48445530	48445530	10184	17	C	A	A	A	325	25	MRPL27	2	2
KIF2B	84643	broad.mit.edu	37	17	51901748	51901748	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901748G>C	uc002iua.2	+	c.1354G>C	c.(1354-1356)GAA>CAA	p.E452Q		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	452	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.105263	6.176298	12.056466	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51901748	51901748	8609	17	G	C	C	C	585	45	KIF2B	3	3
RGS9	8787	broad.mit.edu	37	17	63206645	63206645	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:63206645C>A	uc002jfe.2	+	c.1329C>A	c.(1327-1329)AGC>AGA	p.S443R	RGS9_uc010dem.2_Missense_Mutation_p.S440R|RGS9_uc002jfd.2_Missense_Mutation_p.S440R|RGS9_uc002jff.2_Non-coding_Transcript|RGS9_uc002jfg.2_Missense_Mutation_p.S214R	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	443					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)	2														0.192982	19.682751	24.714403	11	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63206645	63206645	13787	17	C	A	A	A	337	26	RGS9	2	2
SLC16A6	9120	broad.mit.edu	37	17	66268785	66268785	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66268785G>A	uc002jgz.1	-	c.500C>T	c.(499-501)GCA>GTA	p.A167V	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.A167V	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	167	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)									0.101449	4.697489	15.610952	7	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66268785	66268785	14908	17	G	A	A	A	598	46	SLC16A6	2	2
SLC39A11	201266	broad.mit.edu	37	17	70845807	70845807	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:70845807C>A	uc002jjb.2	-	c.588G>T	c.(586-588)CTG>CTT	p.L196L	SLC39A11_uc002jja.2_Silent_p.L189L|SLC39A11_uc002jjc.1_Silent_p.L189L	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	196	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						NSCLC(95;736 1527 12296 39625 41839)								0.076923	-0.306103	13.980552	6	72	KEEP	---	---	---	---	capture		Silent	SNP	70845807	70845807	15111	17	C	A	A	A	314	25	SLC39A11	2	2
C17orf74	201243	broad.mit.edu	37	17	7330220	7330220	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7330220G>T	uc002ggw.2	+	c.910G>T	c.(910-912)GGC>TGC	p.G304C	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	304						integral to membrane					0		Prostate(122;0.157)												0.195652	19.35508	23.322417	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7330220	7330220	1937	17	G	T	T	T	559	43	C17orf74	2	2
EVPL	2125	broad.mit.edu	37	17	74019390	74019390	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74019390C>A	uc010wss.1	-	c.463G>T	c.(463-465)GTG>TTG	p.V155L	EVPL_uc002jqi.2_Missense_Mutation_p.V155L|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	155	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.3	71.07713	73.931448	24	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74019390	74019390	5485	17	C	A	A	A	247	19	EVPL	1	1
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7579485C>A	uc002gim.2	-	c.202G>T	c.(202-204)GAG>TAG	p.E68*	TP53_uc002gig.1_Nonsense_Mutation_p.E68*|TP53_uc002gih.2_Nonsense_Mutation_p.E68*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.E68*|TP53_uc010cni.1_Nonsense_Mutation_p.E68*|TP53_uc002gij.2_Nonsense_Mutation_p.E68*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.E29*|TP53_uc010cnk.1_Nonsense_Mutation_p.E83*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	68	Interaction with WWOX.|Interaction with HRMT1L2.		E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.0?(6)|p.E68*(4)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.348624	95.472378	97.69618	38	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7579485	7579485	16923	17	C	A	A	A	416	32	TP53	5	2
SIRT7	51547	broad.mit.edu	37	17	79873370	79873370	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79873370C>T	uc002kcj.1	-	c.426G>A	c.(424-426)GAG>GAA	p.E142E	SIRT7_uc002kck.1_5'UTR|SIRT7_uc002kcl.1_Silent_p.E60E	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7	142	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)											0.16	8.118434	10.842455	4	21	KEEP	---	---	---	---	capture		Silent	SNP	79873370	79873370	14838	17	C	T	T	T	311	24	SIRT7	2	2
GLP2R	9340	broad.mit.edu	37	17	9760870	9760870	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9760870G>T	uc002gmd.1	+	c.742G>T	c.(742-744)GGG>TGG	p.G248W		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	248	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				ovary(1)	1					Glucagon recombinant(DB00040)									0.315789	32.183305	33.331963	12	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9760870	9760870	6721	17	G	T	T	T	611	47	GLP2R	2	2
RCVRN	5957	broad.mit.edu	37	17	9801495	9801495	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9801495C>T	uc002gme.1	-	c.520G>A	c.(520-522)GAG>AAG	p.E174K		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	174	EF-hand 4.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0														0.170732	39.299194	51.916228	21	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9801495	9801495	13655	17	C	T	T	T	377	29	RCVRN	2	2
GAS7	8522	broad.mit.edu	37	17	9885145	9885145	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9885145G>A	uc002gmg.1	-	c.361C>T	c.(361-363)CAC>TAC	p.H121Y	GAS7_uc010vvd.1_Missense_Mutation_p.H73Y|GAS7_uc002gmi.2_Missense_Mutation_p.H57Y|GAS7_uc002gmj.1_Missense_Mutation_p.H61Y|GAS7_uc010coh.1_Missense_Mutation_p.H61Y	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	121					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			pancreas(1)	1										523				0.075949	-0.91482	13.64594	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9885145	9885145	6514	17	G	A	A	A	585	45	GAS7	2	2
ROCK1	6093	broad.mit.edu	37	18	18624092	18624092	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:18624092C>A	uc002kte.2	-	c.646G>T	c.(646-648)GAT>TAT	p.D216Y		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	216	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|protein phosphorylation|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)									408				0.561538	227.375374	227.802363	73	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18624092	18624092	13996	18	C	A	A	A	416	32	ROCK1	2	2
CHST9	83539	broad.mit.edu	37	18	24604097	24604097	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:24604097C>G	uc002kwd.2	-	c.185G>C	c.(184-186)CGG>CCG	p.R62P	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_5'UTR|CHST9_uc002kwe.2_Missense_Mutation_p.R62P	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	62	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)	2	all_lung(6;0.0145)|Ovarian(20;0.124)													0.357143	27.741415	28.244996	10	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24604097	24604097	3545	18	C	G	G	G	299	23	CHST9	3	3
DSG3	1830	broad.mit.edu	37	18	29054110	29054110	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29054110G>T	uc002kws.2	+	c.2128G>T	c.(2128-2130)GGC>TGC	p.G710C	DSG3_uc002kwt.2_De_novo_Start_OutOfFrame	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	710	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.147059	6.021334	10.159723	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29054110	29054110	4962	18	G	T	T	T	455	35	DSG3	2	2
SLC39A6	25800	broad.mit.edu	37	18	33694177	33694177	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33694177G>A	uc010dmy.2	-	c.1726C>T	c.(1726-1728)CAC>TAC	p.H576Y	SLC39A6_uc002kzj.2_Missense_Mutation_p.H301Y	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	576	His-rich.|Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2														0.192308	10.961448	13.259072	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33694177	33694177	15119	18	G	A	A	A	585	45	SLC39A6	2	2
HAUS1	115106	broad.mit.edu	37	18	43705725	43705725	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43705725C>G	uc002lbu.2	+	c.754C>G	c.(754-756)CAA>GAA	p.Q252E	HAUS1_uc002lbv.2_Missense_Mutation_p.Q176E	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	coiled-coil domain containing 5	252	Potential.				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle pole				ovary(1)	1						NSCLC(79;183 1423 5813 15597 38427)								0.428571	37.397478	37.521139	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43705725	43705725	7247	18	C	G	G	G	377	29	HAUS1	3	3
RNF165	494470	broad.mit.edu	37	18	44013278	44013278	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44013278G>T	uc002lcb.1	+	c.187G>T	c.(187-189)GGC>TGC	p.G63C	RNF165_uc002lby.1_De_novo_Start_OutOfFrame|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	63							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)										0.333333	13.770186	14.139103	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44013278	44013278	13933	18	G	T	T	T	455	35	RNF165	2	2
ST8SIA5	29906	broad.mit.edu	37	18	44260416	44260416	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44260416C>A	uc010xcy.1	-	c.828G>T	c.(826-828)GAG>GAT	p.E276D	ST8SIA5_uc002lci.1_Missense_Mutation_p.E87D|ST8SIA5_uc002lcj.1_Missense_Mutation_p.E240D|ST8SIA5_uc010xcz.1_Missense_Mutation_p.E209D	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	240	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				ovary(1)|pancreas(1)	2														0.388889	17.618507	17.813833	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44260416	44260416	15753	18	C	A	A	A	415	32	ST8SIA5	2	2
SERPINB5	5268	broad.mit.edu	37	18	61170715	61170715	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61170715C>A	uc002liz.3	+	c.888C>A	c.(886-888)ATC>ATA	p.I296I		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	296					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1														0.147059	13.486256	21.676299	10	58	KEEP	---	---	---	---	capture		Silent	SNP	61170715	61170715	14592	18	C	A	A	A	408	32	SERPINB5	2	2
SERPINB3	6317	broad.mit.edu	37	18	61323003	61323003	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61323003G>T	uc002lji.2	-	c.1061C>A	c.(1060-1062)TCA>TAA	p.S354*	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Nonsense_Mutation_p.S302*	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	354		Reactive bond.		SS->PP: Loss of inhibitory activity.	regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2														0.292308	45.60243	48.112637	19	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61323003	61323003	14590	18	G	T	T	T	585	45	SERPINB3	5	2
CDH7	1005	broad.mit.edu	37	18	63511294	63511294	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63511294C>T	uc002ljz.2	+	c.1228C>T	c.(1228-1230)CCT>TCT	p.P410S	CDH7_uc002lka.2_Missense_Mutation_p.P410S|CDH7_uc002lkb.2_Missense_Mutation_p.P410S	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	410	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.089552	3.00448	14.393607	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63511294	63511294	3244	18	C	T	T	T	286	22	CDH7	2	2
KIAA0802	23255	broad.mit.edu	37	18	8784569	8784569	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8784569G>T	uc002knr.2	+	c.1459G>T	c.(1459-1461)GGT>TGT	p.G487C	KIAA0802_uc002knq.2_Missense_Mutation_p.G487C|KIAA0802_uc010dkw.1_Missense_Mutation_p.G325C	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	838										ovary(6)|central_nervous_system(1)	7										468				0.475248	137.253357	137.309197	48	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8784569	8784569	8501	18	G	T	T	T	611	47	KIAA0802	2	2
STK11	6794	broad.mit.edu	37	19	1221340	1221340	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1221340G>T	uc002lrl.1	+	c.862_splice	c.e6+1	p.G288_splice		NM_000455	NP_000446			serine/threonine protein kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|protein phosphorylation|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)		lung(162)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|ovary(4)|stomach(3)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|breast(1)|oesophagus(1)|prostate(1)|kidney(1)	252		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)				14		1341	TSP Lung(3;<1E-8)			0.25	8.420332	9.101265	3	9	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	1221340	1221340	15807	19	G	T	T	T	572	44	STK11	5	2
SLC1A6	6511	broad.mit.edu	37	19	15061096	15061096	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15061096G>T	uc002naa.1	-	c.1606C>A	c.(1606-1608)CTC>ATC	p.L536I	SLC1A6_uc010dzu.1_Missense_Mutation_p.L458I|SLC1A6_uc010xod.1_Missense_Mutation_p.L472I	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	536					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)	5					L-Glutamic Acid(DB00142)									0.347826	41.784356	42.725219	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15061096	15061096	14932	19	G	T	T	T	455	35	SLC1A6	2	2
AP1M1	8907	broad.mit.edu	37	19	16344406	16344406	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16344406T>A	uc002ndv.2	+	c.1186T>A	c.(1186-1188)TAC>AAC	p.Y396N	AP1M1_uc002ndu.2_Missense_Mutation_p.Y384N|AP1M1_uc010xpd.1_Missense_Mutation_p.Y331N	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	384	MHD.				cellular membrane organization|endosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(3)|breast(1)	4														0.375	8.122887	8.232646	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16344406	16344406	744	19	T	A	A	A	793	61	AP1M1	3	3
TMEM59L	25789	broad.mit.edu	37	19	18727909	18727909	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18727909G>T	uc010ebu.1	+	c.661G>T	c.(661-663)GTG>TTG	p.V221L	TMEM59L_uc002njy.3_Missense_Mutation_p.V221L	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	221						Golgi membrane|integral to membrane|membrane fraction				ovary(2)	2														0.46875	44.571836	44.602548	15	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18727909	18727909	16725	19	G	T	T	T	520	40	TMEM59L	1	1
ZNF430	80264	broad.mit.edu	37	19	21216262	21216262	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21216262G>T	uc002npj.2	+	c.97G>T	c.(97-99)GGG>TGG	p.G33W	ZNF430_uc002npk.2_Missense_Mutation_p.G33W	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.351351	67.573603	68.995096	26	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21216262	21216262	18497	19	G	T	T	T	559	43	ZNF430	2	2
ZNF492	57615	broad.mit.edu	37	19	22847720	22847720	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22847720G>T	uc002nqw.3	+	c.1249G>T	c.(1249-1251)GGA>TGA	p.G417*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)												0.12766	16.829811	29.551977	12	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22847720	22847720	18537	19	G	T	T	T	611	47	ZNF492	5	2
ZNF536	9745	broad.mit.edu	37	19	30935040	30935040	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935040C>A	uc002nsu.1	+	c.571C>A	c.(571-573)CGT>AGT	p.R191S	ZNF536_uc010edd.1_Missense_Mutation_p.R191S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.73913	61.802886	63.023229	17	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30935040	30935040	18568	19	C	A	A	A	351	27	ZNF536	1	1
TSHZ3	57616	broad.mit.edu	37	19	31769178	31769178	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769178C>A	uc002nsy.3	-	c.1521G>T	c.(1519-1521)TTG>TTT	p.L507F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	507					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.651685	720.429395	727.676112	232	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31769178	31769178	17176	19	C	A	A	A	376	29	TSHZ3	2	2
GPI	2821	broad.mit.edu	37	19	34884931	34884931	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:34884931A>G	uc002nvf.2	+	c.1139A>G	c.(1138-1140)TAT>TGT	p.Y380C	GPI_uc010xrv.1_Missense_Mutation_p.Y352C|GPI_uc002nvg.1_Missense_Mutation_p.Y341C|GPI_uc010xrw.1_Missense_Mutation_p.Y313C|GPI_uc010edl.1_Missense_Mutation_p.Y341C|GPI_uc002nvi.1_Missense_Mutation_p.Y4C	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	341					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)													0.111111	14.629857	30.769877	12	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34884931	34884931	6885	19	A	G	G	G	208	16	GPI	4	4
HPN	3249	broad.mit.edu	37	19	35556239	35556239	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35556239G>T	uc002nxq.1	+	c.897G>T	c.(895-897)ACG>ACT	p.T299T	HPN_uc002nxr.1_Silent_p.T299T|HPN_uc002nxs.1_Silent_p.T141T|HPN_uc010xsh.1_Silent_p.T268T|HPN_uc002nxt.1_Silent_p.T183T|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	299	Extracellular (Potential).|Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)									0.568966	108.582973	108.823662	33	25	KEEP	---	---	---	---	capture		Silent	SNP	35556239	35556239	7628	19	G	T	T	T	483	38	HPN	1	1
FBL	2091	broad.mit.edu	37	19	40331137	40331137	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40331137C>A	uc002omn.2	-	c.200G>T	c.(199-201)GGT>GTT	p.G67V	FBL_uc002omm.1_5'UTR|FBL_uc002omo.2_Missense_Mutation_p.G66V|FBL_uc010egr.2_Missense_Mutation_p.G67V	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	67	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)										0.241546	119.06868	131.669529	50	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40331137	40331137	5932	19	C	A	A	A	234	18	FBL	2	2
PSMC4	5704	broad.mit.edu	37	19	40478061	40478061	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40478061C>T	uc002omq.2	+	c.45C>T	c.(43-45)ATC>ATT	p.I15I	PSMC4_uc002omr.2_Silent_p.I15I	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	15					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|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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					Colon(105;1478 1543 4034 6132 38638)								0.168142	35.521368	47.388366	19	94	KEEP	---	---	---	---	capture		Silent	SNP	40478061	40478061	13142	19	C	T	T	T	382	30	PSMC4	2	2
ZNF780B	163131	broad.mit.edu	37	19	40540490	40540490	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40540490C>A	uc002omu.2	-	c.2276G>T	c.(2275-2277)GGG>GTG	p.G759V	ZNF780B_uc002omv.2_Missense_Mutation_p.G611V	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	759	C2H2-type 22; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.323529	87.902327	90.690832	33	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40540490	40540490	18751	19	C	A	A	A	286	22	ZNF780B	2	2
CCDC97	90324	broad.mit.edu	37	19	41822700	41822700	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41822700G>A	uc002oqg.2	+	c.458G>A	c.(457-459)CGC>CAC	p.R153H	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	153											0														0.098039	0.668531	8.992852	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41822700	41822700	3000	19	G	A	A	A	494	38	CCDC97	1	1
PSG6	5675	broad.mit.edu	37	19	43421904	43421904	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43421904G>T	uc002ovj.1	-	c.41C>A	c.(40-42)ACC>AAC	p.T14N	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.T14N|PSG6_uc002ovg.1_Missense_Mutation_p.T14N	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	14					female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.124352	30.320701	56.908186	24	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43421904	43421904	13112	19	G	T	T	T	572	44	PSG6	2	2
PSG5	5673	broad.mit.edu	37	19	43688994	43688994	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43688994T>A	uc002ovv.2	-	c.370A>T	c.(370-372)ATC>TTC	p.I124F	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.I52F|PSG5_uc002ovu.2_Missense_Mutation_p.I124F|PSG5_uc002ovx.2_Missense_Mutation_p.I124F|PSG5_uc002ovw.2_Missense_Mutation_p.I124F	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	124	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00899)												0.574944	860.965366	863.158999	257	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43688994	43688994	13111	19	T	A	A	A	663	51	PSG5	3	3
ZNF283	284349	broad.mit.edu	37	19	44352416	44352416	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44352416G>T	uc002oxr.3	+	c.1663G>T	c.(1663-1665)GGC>TGC	p.G555C	ZNF283_uc002oxp.3_Missense_Mutation_p.G416C	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	555	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.583333	154.282243	154.795671	49	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44352416	44352416	18412	19	G	T	T	T	611	47	ZNF283	2	2
ERCC2	2068	broad.mit.edu	37	19	45855483	45855483	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45855483G>A	uc002pbj.2	-	c.2174C>T	c.(2173-2175)GCA>GTA	p.A725V	ERCC2_uc002pbh.2_Missense_Mutation_p.A288V|ERCC2_uc002pbi.2_Missense_Mutation_p.A418V|ERCC2_uc010ejz.2_Missense_Mutation_p.A647V|ERCC2_uc002pbk.2_Missense_Mutation_p.A701V	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	725			Missing (in XP-D and TTDP).|A -> P (in TTDP).		cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(1)|pancreas(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)						447				0.25	9.889611	11.012036	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45855483	45855483	5406	19	G	A	A	A	598	46	ERCC2	2	2
TMEM143	55260	broad.mit.edu	37	19	48848507	48848507	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48848507C>A	uc002pix.1	-	c.474G>T	c.(472-474)GAG>GAT	p.E158D	TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc002piy.1_Missense_Mutation_p.E123D|TMEM143_uc010xzn.1_Intron|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_5'UTR|TMEM143_uc010xzp.1_Intron|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	158						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)										0.19469	43.605031	53.420248	22	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48848507	48848507	16589	19	C	A	A	A	363	28	TMEM143	2	2
SIGLEC6	946	broad.mit.edu	37	19	52034136	52034136	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52034136G>T	uc002pwy.2	-	c.505C>A	c.(505-507)CCC>ACC	p.P169T	SIGLEC6_uc002pwz.2_Missense_Mutation_p.P169T|SIGLEC6_uc002pxa.2_Missense_Mutation_p.P169T|SIGLEC6_uc010ydb.1_Missense_Mutation_p.P122T|SIGLEC6_uc010ydc.1_Missense_Mutation_p.P158T|SIGLEC6_uc010eoz.1_Missense_Mutation_p.P147T|SIGLEC6_uc010epb.1_Missense_Mutation_p.P122T|SIGLEC6_uc010epa.1_Missense_Mutation_p.P158T	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	169	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)										0.123077	9.470337	18.494195	8	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52034136	52034136	14807	19	G	T	T	T	546	42	SIGLEC6	2	2
LILRA4	23547	broad.mit.edu	37	19	54849819	54849819	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54849819G>T	uc002qfj.2	-	c.203C>A	c.(202-204)TCG>TAG	p.S68*	LILRA4_uc002qfi.2_Nonsense_Mutation_p.S2*	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	68	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)										0.169811	35.302264	46.225678	18	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54849819	54849819	9113	19	G	T	T	T	481	37	LILRA4	5	1
LENG8	114823	broad.mit.edu	37	19	54969154	54969154	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54969154G>T	uc002qfw.2	+	c.1875G>T	c.(1873-1875)GAG>GAT	p.E625D	LENG8_uc002qfv.1_Missense_Mutation_p.E588D	NM_052925	NP_443157	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster member 8	588							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)										0.176471	15.318545	20.399486	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54969154	54969154	9048	19	G	T	T	T	425	33	LENG8	2	2
KIR2DL3	3804	broad.mit.edu	37	19	55253683	55253683	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55253683C>A	uc010erw.1	+	c.328C>A	c.(328-330)CAG>AAG	p.Q110K	KIR2DL3_uc002qgv.2_Missense_Mutation_p.Q110K|KIR2DL3_uc002qgx.2_Missense_Mutation_p.Q110K|KIR2DL3_uc002qgy.2_Missense_Mutation_p.Q110K|KIR2DL1_uc002qgz.1_Missense_Mutation_p.Q20K|KIR2DL3_uc002qha.1_Non-coding_Transcript	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	110	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)										0.172727	35.164011	46.29001	19	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55253683	55253683	8629	19	C	A	A	A	377	29	KIR2DL3	2	2
NLRP13	126204	broad.mit.edu	37	19	56435333	56435333	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56435333G>A	uc010ygg.1	-	c.470C>T	c.(469-471)GCC>GTC	p.A157V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	157							ATP binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)										0.213333	34.370493	40.060942	16	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56435333	56435333	10878	19	G	A	A	A	546	42	NLRP13	2	2
ZNF211	10520	broad.mit.edu	37	19	58152079	58152079	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58152079G>T	uc002qps.2	+	c.420G>T	c.(418-420)TGG>TGT	p.W140C	ZNF211_uc010yhb.1_Missense_Mutation_p.W79C|ZNF211_uc002qpp.2_Missense_Mutation_p.W88C|ZNF211_uc002qpq.2_Missense_Mutation_p.W75C|ZNF211_uc002qpr.2_Missense_Mutation_p.W139C|ZNF211_uc002qpt.2_Missense_Mutation_p.W87C|ZNF211_uc010yhc.1_Missense_Mutation_p.W87C|ZNF211_uc010yhd.1_Missense_Mutation_p.W14C|ZNF211_uc010yhe.1_Missense_Mutation_p.W66C	NM_006385	NP_006376	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 1	75	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.162162	10.626286	14.647418	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58152079	58152079	18358	19	G	T	T	T	572	44	ZNF211	2	2
MYO1F	4542	broad.mit.edu	37	19	8592263	8592263	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8592263C>T	uc002mkg.2	-	c.2433G>A	c.(2431-2433)AAG>AAA	p.K811K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	811						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)	2														0.181818	8.993689	11.080554	4	18	KEEP	---	---	---	---	capture		Silent	SNP	8592263	8592263	10468	19	C	T	T	T	415	32	MYO1F	2	2
MUC16	94025	broad.mit.edu	37	19	9024902	9024902	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9024902C>T	uc002mkp.2	-	c.36960G>A	c.(36958-36960)TGG>TGA	p.W12320*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12322	SEA 2.|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														0.115385	10.538058	21.88686	9	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9024902	9024902	10367	19	C	T	T	T	286	22	MUC16	5	2
MUC16	94025	broad.mit.edu	37	19	9065439	9065439	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9065439G>A	uc002mkp.2	-	c.22007C>T	c.(22006-22008)ACA>ATA	p.T7336I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7338	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														0.346154	25.466157	26.009942	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9065439	9065439	10367	19	G	A	A	A	624	48	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9084779	9084779	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9084779C>G	uc002mkp.2	-	c.7036G>C	c.(7036-7038)GAA>CAA	p.E2346Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2346	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														0.411765	20.518902	20.634645	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9084779	9084779	10367	19	C	G	G	G	377	29	MUC16	3	3
MUC16	94025	broad.mit.edu	37	19	9088216	9088216	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9088216G>T	uc002mkp.2	-	c.3599C>A	c.(3598-3600)TCC>TAC	p.S1200Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1200	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														0.348837	121.448217	124.043695	45	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9088216	9088216	10367	19	G	T	T	T	533	41	MUC16	2	2
OR7G3	390883	broad.mit.edu	37	19	9237033	9237033	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9237033C>A	uc010xkl.1	-	c.594G>T	c.(592-594)CTG>CTT	p.L198L		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.384615	55.979029	56.587865	20	32	KEEP	---	---	---	---	capture		Silent	SNP	9237033	9237033	11635	19	C	A	A	A	262	21	OR7G3	2	2
EXTL2	2135	broad.mit.edu	37	1	101339551	101339551	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101339551T>C	uc001dtk.1	-	c.940A>G	c.(940-942)ATT>GTT	p.I314V	EXTL2_uc001dtl.1_Missense_Mutation_p.I314V|EXTL2_uc010ouk.1_Missense_Mutation_p.I301V|EXTL2_uc001dtm.1_Missense_Mutation_p.I313V	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	314	Lumenal (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding				0		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)										0.189655	22.388366	27.618395	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101339551	101339551	5520	1	T	C	C	C	663	51	EXTL2	4	4
GPSM2	29899	broad.mit.edu	37	1	109439559	109439559	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109439559G>A	uc010ovc.1	+	c.130G>A	c.(130-132)GTG>ATG	p.V44M	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.V44M|GPSM2_uc010ove.1_Missense_Mutation_p.V44M	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	44	TPR 1.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)										0.159236	47.789454	65.14521	25	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109439559	109439559	7011	1	G	A	A	A	520	40	GPSM2	1	1
KCNA3	3738	broad.mit.edu	37	1	111216190	111216190	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111216190G>A	uc001dzv.1	-	c.1242C>T	c.(1240-1242)AGC>AGT	p.S414S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	414	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.2	15.635516	19.442949	9	36	KEEP	---	---	---	---	capture		Silent	SNP	111216190	111216190	8309	1	G	A	A	A	490	38	KCNA3	1	1
OVGP1	5016	broad.mit.edu	37	1	111957412	111957412	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111957412G>A	uc001eba.2	-	c.1711C>T	c.(1711-1713)CGT>TGT	p.R571C	OVGP1_uc001eaz.2_Missense_Mutation_p.R533C|OVGP1_uc010owb.1_Missense_Mutation_p.R219C	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	571					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)										0.217391	58.667104	67.203191	25	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111957412	111957412	11738	1	G	A	A	A	507	39	OVGP1	1	1
NGF	4803	broad.mit.edu	37	1	115829197	115829197	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115829197G>T	uc001efu.1	-	c.220C>A	c.(220-222)CCC>ACC	p.P74T		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	74					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(1)	1	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)					36				0.25	11.664773	12.801587	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115829197	115829197	10795	1	G	T	T	T	559	43	NGF	2	2
REG4	83998	broad.mit.edu	37	1	120351347	120351347	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120351347C>A	uc001eig.2	-	c.46G>T	c.(46-48)GCC>TCC	p.A16S	REG4_uc001eif.2_Missense_Mutation_p.A16S|REG4_uc001eih.1_Missense_Mutation_p.A16S	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	16						extracellular region	sugar binding			ovary(1)	1	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)								OREG0013729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.214286	7.118155	8.172868	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120351347	120351347	13683	1	C	A	A	A	338	26	REG4	2	2
VPS13D	55187	broad.mit.edu	37	1	12387806	12387806	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12387806G>T	uc001atv.2	+	c.8092G>T	c.(8092-8094)GCG>TCG	p.A2698S	VPS13D_uc001atw.2_Missense_Mutation_p.A2698S|VPS13D_uc001atx.2_Missense_Mutation_p.A1886S|VPS13D_uc001aty.1_Missense_Mutation_p.A436S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2698					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)										0.114035	15.402792	32.139941	13	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12387806	12387806	17759	1	G	T	T	T	442	34	VPS13D	2	2
GJA8	2703	broad.mit.edu	37	1	147380415	147380415	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:147380415G>A	uc001epu.1	+	c.333G>A	c.(331-333)GCG>GCA	p.A111A		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	111	Cytoplasmic (Potential).			EA -> D (in Ref. 1; AAA77062).	cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)	5	all_hematologic(923;0.0276)					Melanoma(76;1255 1795 8195 52096)								0.106796	10.697643	26.466337	11	92	KEEP	---	---	---	---	capture		Silent	SNP	147380415	147380415	6673	1	G	A	A	A	496	39	GJA8	1	1
HRNR	388697	broad.mit.edu	37	1	152191868	152191868	+	Nonsense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152191868G>C	uc001ezt.1	-	c.2237C>G	c.(2236-2238)TCA>TGA	p.S746*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	746	7.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.237864	136.851711	149.728325	49	157	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152191868	152191868	7653	1	G	C	C	C	585	45	HRNR	5	3
HRNR	388697	broad.mit.edu	37	1	152192829	152192829	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152192829G>T	uc001ezt.1	-	c.1276C>A	c.(1276-1278)CAC>AAC	p.H426N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	426	4.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.119565	13.505505	26.534129	11	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152192829	152192829	7653	1	G	T	T	T	611	47	HRNR	2	2
FLG	2312	broad.mit.edu	37	1	152281950	152281950	+	Silent	SNP	T	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152281950T>G	uc001ezu.1	-	c.5412A>C	c.(5410-5412)TCA>TCC	p.S1804S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1804	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.055238	-57.093649	52.751525	29	496	KEEP	---	---	---	---	capture		Silent	SNP	152281950	152281950	6160	1	T	G	G	G	704	55	FLG	4	4
S100A3	6274	broad.mit.edu	37	1	153520866	153520866	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153520866C>A	uc001fca.1	-	c.96G>T	c.(94-96)GCG>GCT	p.A32A	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	32	1; low affinity (Potential).|EF-hand 1.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.203883	98.160841	114.908129	42	164	KEEP	---	---	---	---	capture		Silent	SNP	153520866	153520866	14259	1	C	A	A	A	288	23	S100A3	1	1
SEMA4A	64218	broad.mit.edu	37	1	156131247	156131247	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156131247G>T	uc001fnl.2	+	c.921G>T	c.(919-921)GCG>GCT	p.A307A	SEMA4A_uc009wrq.2_Silent_p.A307A|SEMA4A_uc001fnm.2_Silent_p.A307A|SEMA4A_uc001fnn.2_Silent_p.A175A|SEMA4A_uc001fno.2_Silent_p.A307A	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	307	Sema.|Extracellular (Potential).			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1).	axon guidance|visual perception	integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Hepatocellular(266;0.158)													0.112903	5.684699	14.856197	7	55	KEEP	---	---	---	---	capture		Silent	SNP	156131247	156131247	14517	1	G	T	T	T	496	39	SEMA4A	1	1
BCAN	63827	broad.mit.edu	37	1	156616891	156616891	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156616891C>A	uc001fpp.2	+	c.390C>A	c.(388-390)AAC>AAA	p.N130K	BCAN_uc001fpo.2_Missense_Mutation_p.N130K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	130	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.153846	7.68368	10.661918	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156616891	156616891	1366	1	C	A	A	A	246	19	BCAN	1	1
INSRR	3645	broad.mit.edu	37	1	156814510	156814510	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156814510G>T	uc010pht.1	-	c.2563C>A	c.(2563-2565)CGC>AGC	p.R855S	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	855	Fibronectin type-III 3.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(7)|ovary(4)|kidney(1)|central_nervous_system(1)|skin(1)	14	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									299				0.444444	100.497964	100.69011	32	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156814510	156814510	8075	1	G	T	T	T	507	39	INSRR	1	1
CD1B	910	broad.mit.edu	37	1	158300743	158300743	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158300743G>T	uc001frx.2	-	c.171C>A	c.(169-171)GGC>GGA	p.G57G	CD1B_uc001frw.2_De_novo_Start_OutOfFrame|CD1B_uc010pic.1_Silent_p.G57G	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	57	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)													0.148615	93.720684	140.923955	59	338	KEEP	---	---	---	---	capture		Silent	SNP	158300743	158300743	3102	1	G	T	T	T	431	34	CD1B	2	2
CD1E	913	broad.mit.edu	37	1	158325757	158325757	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158325757C>A	uc001fse.2	+	c.766C>A	c.(766-768)CGA>AGA	p.R256R	CD1E_uc010pid.1_Silent_p.R254R|CD1E_uc010pie.1_Silent_p.R157R|CD1E_uc010pif.1_Silent_p.R67R|CD1E_uc001fsd.2_Silent_p.R256R|CD1E_uc001fsk.2_Silent_p.R166R|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Silent_p.R67R|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.R256R|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Silent_p.R67R|CD1E_uc001fsh.2_Silent_p.R67R|CD1E_uc001fsi.2_Silent_p.R256R|CD1E_uc009wsv.2_Silent_p.R157R|CD1E_uc001frz.2_Silent_p.R166R|CD1E_uc009wsw.2_Silent_p.R14R	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	256	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen					0	all_hematologic(112;0.0378)													0.284483	87.93858	92.77365	33	83	KEEP	---	---	---	---	capture		Silent	SNP	158325757	158325757	3105	1	C	A	A	A	347	27	CD1E	1	1
OR10K2	391107	broad.mit.edu	37	1	158390370	158390370	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158390370C>A	uc010pii.1	-	c.287G>T	c.(286-288)GGC>GTC	p.G96V		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.271084	111.896467	119.753155	45	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158390370	158390370	11320	1	C	A	A	A	338	26	OR10K2	2	2
OR10K2	391107	broad.mit.edu	37	1	158390586	158390586	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158390586T>C	uc010pii.1	-	c.71A>G	c.(70-72)CAG>CGG	p.Q24R		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.344262	57.55449	58.862087	21	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158390586	158390586	11320	1	T	C	C	C	715	55	OR10K2	4	4
OR10R2	343406	broad.mit.edu	37	1	158450540	158450540	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158450540C>A	uc010pik.1	+	c.873C>A	c.(871-873)GAC>GAA	p.D291E		NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	291	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)	2	all_hematologic(112;0.0378)													0.116667	7.87865	16.561711	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158450540	158450540	11323	1	C	A	A	A	220	17	OR10R2	2	2
OR10X1	128367	broad.mit.edu	37	1	158549500	158549500	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158549500G>T	uc010pin.1	-	c.190C>A	c.(190-192)CTA>ATA	p.L64I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	64	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.109589	4.466243	15.718134	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158549500	158549500	11328	1	G	T	T	T	425	33	OR10X1	2	2
OR10Z1	128368	broad.mit.edu	37	1	158576496	158576496	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158576496C>A	uc010pio.1	+	c.268C>A	c.(268-270)CAG>AAG	p.Q90K		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.068111	-18.751135	43.558179	22	301	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158576496	158576496	11329	1	C	A	A	A	273	21	OR10Z1	2	2
SPTA1	6708	broad.mit.edu	37	1	158607877	158607877	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158607877G>T	uc001fst.1	-	c.5135C>A	c.(5134-5136)GCC>GAC	p.A1712D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1712					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.189189	73.393778	89.979589	35	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158607877	158607877	15630	1	G	T	T	T	546	42	SPTA1	2	2
SPTA1	6708	broad.mit.edu	37	1	158654908	158654908	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158654908G>T	uc001fst.1	-	c.254C>A	c.(253-255)ACT>AAT	p.T85N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	85	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.240385	63.612823	70.020189	25	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158654908	158654908	15630	1	G	T	T	T	468	36	SPTA1	2	2
SPTA1	6708	broad.mit.edu	37	1	158655041	158655041	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158655041G>C	uc001fst.1	-	c.121C>G	c.(121-123)CGG>GGG	p.R41G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	41	Spectrin 1.		R -> W (in EL2; Tunis).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.32	93.800916	96.660822	32	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158655041	158655041	15630	1	G	C	C	C	493	38	SPTA1	3	3
OR6K3	391114	broad.mit.edu	37	1	158687357	158687357	+	Silent	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158687357A>G	uc010pip.1	-	c.597T>C	c.(595-597)CCT>CCC	p.P199P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.196429	51.436164	61.016149	22	90	KEEP	---	---	---	---	capture		Silent	SNP	158687357	158687357	11613	1	A	G	G	G	80	7	OR6K3	4	4
PYHIN1	149628	broad.mit.edu	37	1	158914793	158914793	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158914793G>T	uc001ftb.2	+	c.1320G>T	c.(1318-1320)CAG>CAT	p.Q440H	PYHIN1_uc001ftc.2_Missense_Mutation_p.Q431H|PYHIN1_uc001ftd.2_Missense_Mutation_p.Q440H|PYHIN1_uc001fte.2_Missense_Mutation_p.Q431H	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	440					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.072464	-6.263176	19.706015	10	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158914793	158914793	13323	1	G	T	T	T	425	33	PYHIN1	2	2
AIM2	9447	broad.mit.edu	37	1	159036095	159036096	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159036095_159036096GG>TT	uc001ftj.1	-	c.420_421CC>AA	c.(418-423)GCCCAG>GCAAAG	p.Q141K		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	141	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)													0.211765	45.550398	52.045169	18	67	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	159036095	159036096	435	1	GG	TT	TT	TT	611	47	AIM2	2	2
ATP1A2	477	broad.mit.edu	37	1	160099947	160099947	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160099947G>T	uc001fvc.2	+	c.1517G>T	c.(1516-1518)GGG>GTG	p.G506V	ATP1A2_uc001fvb.2_Missense_Mutation_p.G506V|ATP1A2_uc001fvd.2_Missense_Mutation_p.G242V|ATP1A2_uc009wtg.1_Missense_Mutation_p.G194V	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	506	Cytoplasmic (Potential).				ATP biosynthetic process	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|central_nervous_system(2)	4	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)											0.398601	153.483033	154.78388	57	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160099947	160099947	1148	1	G	T	T	T	559	43	ATP1A2	2	2
NCSTN	23385	broad.mit.edu	37	1	160326918	160326918	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160326918G>T	uc001fvx.2	+	c.1882G>T	c.(1882-1884)GCC>TCC	p.A628S	NCSTN_uc001fvy.2_Missense_Mutation_p.A608S|NCSTN_uc010pjf.1_Missense_Mutation_p.A490S|NCSTN_uc001fvz.2_Missense_Mutation_p.A408S|NCSTN_uc010pjg.1_Missense_Mutation_p.A370S	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	628	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding				0	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.216981	53.673683	61.502527	23	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160326918	160326918	10640	1	G	T	T	T	442	34	NCSTN	2	2
UHMK1	127933	broad.mit.edu	37	1	162492234	162492234	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162492234C>T	uc001gcc.1	+	c.1154C>T	c.(1153-1155)GCG>GTG	p.A385V	UHMK1_uc001gcb.1_Missense_Mutation_p.A311V|UHMK1_uc009wuu.1_3'UTR	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	385	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)							266				0.27027	74.56274	79.810382	30	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162492234	162492234	17524	1	C	T	T	T	351	27	UHMK1	1	1
RFWD2	64326	broad.mit.edu	37	1	176153825	176153825	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176153825G>A	uc001gku.1	-	c.411C>T	c.(409-411)CCC>CCT	p.P137P	RFWD2_uc001gkv.1_Silent_p.P137P|RFWD2_uc001gkw.1_5'UTR|RFWD2_uc001gkt.1_5'UTR	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	137	RING-type.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						Ovarian(134;1413 1765 5706 35534 51541)								0.13245	33.460475	53.216982	20	131	KEEP	---	---	---	---	capture		Silent	SNP	176153825	176153825	13732	1	G	A	A	A	600	47	RFWD2	2	2
CACNA1E	777	broad.mit.edu	37	1	181702831	181702831	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181702831C>A	uc001gow.2	+	c.3207C>A	c.(3205-3207)AGC>AGA	p.S1069R	CACNA1E_uc009wxs.2_Missense_Mutation_p.S957R|CACNA1E_uc001gox.1_Missense_Mutation_p.S295R|CACNA1E_uc009wxt.2_Missense_Mutation_p.S295R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1069	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														0.185185	11.559731	14.067857	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181702831	181702831	2658	1	C	A	A	A	350	27	CACNA1E	1	1
RNASEL	6041	broad.mit.edu	37	1	182555440	182555440	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182555440C>A	uc001gpj.1	-	c.502G>T	c.(502-504)GGG>TGG	p.G168W	RNASEL_uc009wxz.1_Missense_Mutation_p.G168W|RNASEL_uc001gpk.2_Missense_Mutation_p.G168W|RNASEL_uc009wya.1_Missense_Mutation_p.G168W	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	168	ANK 5.				mRNA processing|protein phosphorylation|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)	4										183				0.288889	33.360026	35.15605	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182555440	182555440	13893	1	C	A	A	A	312	24	RNASEL	2	2
NMNAT2	23057	broad.mit.edu	37	1	183247712	183247712	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183247712G>A	uc001gqc.1	-	c.627C>T	c.(625-627)ATC>ATT	p.I209I	NMNAT2_uc009wye.1_Non-coding_Transcript|NMNAT2_uc001gqb.1_Silent_p.I204I	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	nicotinamide mononucleotide adenylyltransferase	209					NAD biosynthetic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0														0.148148	14.06445	20.482188	8	46	KEEP	---	---	---	---	capture		Silent	SNP	183247712	183247712	10902	1	G	A	A	A	525	41	NMNAT2	2	2
FAM5C	339479	broad.mit.edu	37	1	190203594	190203594	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190203594C>A	uc001gse.1	-	c.632G>T	c.(631-633)CGG>CTG	p.R211L	FAM5C_uc010pot.1_Missense_Mutation_p.R109L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	211						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.346154	52.324148	53.415195	18	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190203594	190203594	5817	1	C	A	A	A	299	23	FAM5C	1	1
CFH	3075	broad.mit.edu	37	1	196648885	196648885	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196648885G>C	uc001gtj.3	+	c.752G>C	c.(751-753)TGC>TCC	p.C251S	CFH_uc001gti.3_Missense_Mutation_p.C251S|CFH_uc009wyw.2_Missense_Mutation_p.C251S|CFH_uc009wyx.2_Missense_Mutation_p.C187S	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	251	Sushi 4.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.5	86.325371	86.325371	26	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196648885	196648885	3416	1	G	C	C	C	598	46	CFH	3	3
CRB1	23418	broad.mit.edu	37	1	197404648	197404648	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197404648C>A	uc001gtz.2	+	c.3655C>A	c.(3655-3657)CAG>AAG	p.Q1219K	CRB1_uc010poz.1_Missense_Mutation_p.Q1195K|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.Q1107K|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.Q700K|CRB1_uc001gub.1_Missense_Mutation_p.Q868K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1219	EGF-like 17.|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.291667	38.228349	40.095911	14	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197404648	197404648	3987	1	C	A	A	A	273	21	CRB1	2	2
TNNT2	7139	broad.mit.edu	37	1	201330434	201330434	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201330434C>A	uc001gwf.2	-	c.774G>T	c.(772-774)CAG>CAT	p.Q258H	TNNT2_uc009wzn.2_Non-coding_Transcript|TNNT2_uc009wzo.2_Non-coding_Transcript|TNNT2_uc009wzp.2_Non-coding_Transcript|TNNT2_uc001gwg.2_Missense_Mutation_p.Q248H|TNNT2_uc001gwh.2_Missense_Mutation_p.Q245H|TNNT2_uc001gwi.2_Missense_Mutation_p.Q218H|TNNT2_uc009wzr.2_Missense_Mutation_p.Q189H	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	261					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0												OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.127413	45.017599	80.058664	33	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201330434	201330434	16872	1	C	A	A	A	311	24	TNNT2	2	2
CHIT1	1118	broad.mit.edu	37	1	203191396	203191396	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203191396G>T	uc001gzn.2	-	c.663C>A	c.(661-663)GTC>GTA	p.V221V	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Silent_p.V12V|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.V212V	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	221					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0														0.137255	10.603398	17.086218	7	44	KEEP	---	---	---	---	capture		Silent	SNP	203191396	203191396	3480	1	G	T	T	T	574	45	CHIT1	2	2
ZC3H11A	9877	broad.mit.edu	37	1	203819698	203819698	+	Silent	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203819698A>G	uc001hac.2	+	c.1995A>G	c.(1993-1995)AAA>AAG	p.K665K	ZC3H11A_uc001had.2_Silent_p.K665K|ZC3H11A_uc001hae.2_Silent_p.K665K|ZC3H11A_uc001haf.2_Silent_p.K665K|ZC3H11A_uc010pqm.1_Silent_p.K611K	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	665							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.158416	34.041693	45.268874	16	85	KEEP	---	---	---	---	capture		Silent	SNP	203819698	203819698	18148	1	A	G	G	G	50	4	ZC3H11A	4	4
DYRK3	8444	broad.mit.edu	37	1	206821364	206821364	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206821364T>C	uc001hej.2	+	c.821T>C	c.(820-822)ATG>ACG	p.M274T	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.M254T	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	274	Protein kinase.				erythrocyte differentiation|protein phosphorylation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(1)|central_nervous_system(1)	2	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			Melanoma(164;427 2622 26826 51707)				219				0.136752	24.62139	39.567736	16	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206821364	206821364	5043	1	T	C	C	C	663	51	DYRK3	4	4
CR1	1378	broad.mit.edu	37	1	207679247	207679247	+	Splice_Site_SNP	SNP	A	T	T	rs55704635		TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207679247A>T	uc001hfx.2	+	c.122_splice	c.e2-2	p.G41_splice	CR1_uc009xcl.1_Splice_Site_SNP_p.G41_splice|CR1_uc001hfy.2_Splice_Site_SNP_p.G41_splice|CR1_uc010psg.1_Splice_Site_SNP_p.G41_splice|CR1_uc009xcj.1_Splice_Site_SNP_p.G41_splice|CR1_uc009xck.1_Splice_Site_SNP_p.G41_splice	NM_000651	NP_000642			complement receptor 1 isoform S precursor						complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.346939	103.42109	105.447516	34	64	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	207679247	207679247	3979	1	A	T	T	T	91	7	CR1	5	3
USH2A	7399	broad.mit.edu	37	1	215848654	215848654	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215848654C>G	uc001hku.1	-	c.12599G>C	c.(12598-12600)TGG>TCG	p.W4200S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4200	Extracellular (Potential).|Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.362637	88.74458	90.298292	33	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215848654	215848654	17598	1	C	G	G	G	273	21	USH2A	3	3
TGFB2	7042	broad.mit.edu	37	1	218610705	218610705	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:218610705G>A	uc001hln.2	+	c.1037G>A	c.(1036-1038)TGC>TAC	p.C346Y	TGFB2_uc001hlm.2_Missense_Mutation_p.C318Y|TGFB2_uc010pue.1_Non-coding_Transcript|TGFB2_uc001hlo.2_Non-coding_Transcript	NM_001135599	NP_001129071	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 1	318					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)						137				0.138298	16.331441	28.217323	13	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218610705	218610705	16346	1	G	A	A	A	598	46	TGFB2	2	2
LEFTY1	10637	broad.mit.edu	37	1	226075248	226075248	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226075248C>A	uc001hpo.2	-	c.588G>T	c.(586-588)CCG>CCT	p.P196P	LEFTY1_uc010pvj.1_Missense_Mutation_p.A305S|LEFTY1_uc009xej.1_3'UTR	NM_020997	NP_066277	O75610	LFTY1_HUMAN	left-right determination, factor B	196					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)													0.206897	14.247548	16.546359	6	23	KEEP	---	---	---	---	capture		Silent	SNP	226075248	226075248	9039	1	C	A	A	A	340	27	LEFTY1	1	1
CABC1	56997	broad.mit.edu	37	1	227152832	227152832	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227152832G>A	uc001hqm.1	+	c.309G>A	c.(307-309)GCG>GCA	p.A103A	CABC1_uc010pvp.1_Silent_p.A66A|CABC1_uc001hqn.1_Silent_p.A103A|CABC1_uc009xeq.1_Silent_p.A51A|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	103					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)							p.A103A(SNU407-Tumor)					0.142857	10.636799	18.385326	9	54	KEEP	---	---	---	---	capture		Silent	SNP	227152832	227152832	2643	1	G	A	A	A	483	38	CABC1	1	1
CABC1	56997	broad.mit.edu	37	1	227171546	227171546	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227171546G>A	uc001hqm.1	+	c.1247G>A	c.(1246-1248)CGC>CAC	p.R416H	CABC1_uc001hqn.1_Missense_Mutation_p.R416H|CABC1_uc009xeq.1_Missense_Mutation_p.R364H|CABC1_uc010pvq.1_Missense_Mutation_p.R137H|CABC1_uc010pvr.1_Missense_Mutation_p.R90H|CABC1_uc001hqo.1_Missense_Mutation_p.R137H|CABC1_uc009xer.1_5'UTR	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	416	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)												0.172414	8.659428	11.598607	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227171546	227171546	2643	1	G	A	A	A	494	38	CABC1	1	1
ACTA1	58	broad.mit.edu	37	1	229568535	229568535	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229568535C>T	uc001htm.2	-	c.222G>A	c.(220-222)GAG>GAA	p.E74E		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	74			E -> K (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)									0.053571	-11.026098	12.511018	6	106	KEEP	---	---	---	---	capture		Silent	SNP	229568535	229568535	192	1	C	T	T	T	363	28	ACTA1	2	2
DISC1	27185	broad.mit.edu	37	1	231829612	231829612	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231829612G>A	uc001huz.2	+	c.108G>A	c.(106-108)AGG>AGA	p.R36R	TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_5'UTR|TSNAX-DISC1_uc010pwg.1_Silent_p.R25R|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_5'UTR|TSNAX-DISC1_uc010pwj.1_Silent_p.R25R|TSNAX-DISC1_uc010pwk.1_Silent_p.R25R|TSNAX-DISC1_uc010pwl.1_Non-coding_Transcript|DISC1_uc010pwo.1_Silent_p.R36R|DISC1_uc010pwp.1_Silent_p.R36R|DISC1_uc010pwq.1_Silent_p.R36R|DISC1_uc010pwr.1_Silent_p.R36R|DISC1_uc010pws.1_Silent_p.R36R|DISC1_uc010pwt.1_Silent_p.R36R|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_Non-coding_Transcript|DISC1_uc010pww.1_Silent_p.R36R|DISC1_uc010pwx.1_Non-coding_Transcript|DISC1_uc010pwy.1_Non-coding_Transcript|DISC1_uc010pwz.1_Non-coding_Transcript|DISC1_uc010pxa.1_Non-coding_Transcript|DISC1_uc001huy.2_Silent_p.R36R|DISC1_uc010pxb.1_Silent_p.R36R|DISC1_uc010pxc.1_Silent_p.R36R|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Silent_p.R36R|DISC1_uc009xfr.2_5'UTR|DISC1_uc010pxf.1_Silent_p.R36R|DISC1_uc010pxg.1_Silent_p.R36R|DISC1_uc010pxh.1_Silent_p.R36R|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.1_Silent_p.R36R|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Silent_p.R36R|DISC1_uc010pwm.1_Silent_p.R36R|DISC1_uc001hux.1_Silent_p.R36R|DISC1_uc001hvc.3_Silent_p.R36R|DISC1_uc010pwn.1_Silent_p.R36R	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	36	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding				0		all_cancers(173;0.0208)|Prostate(94;0.0975)												0.103448	3.738865	12.795048	6	52	KEEP	---	---	---	---	capture		Silent	SNP	231829612	231829612	4717	1	G	A	A	A	542	42	DISC1	2	2
KIAA1804	84451	broad.mit.edu	37	1	233497909	233497909	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233497909G>T	uc001hvt.3	+	c.1422G>T	c.(1420-1422)GTG>GTT	p.V474V	KIAA1804_uc001hvs.1_Silent_p.V474V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	474	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)	7		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)								196				0.475	58.340731	58.360703	19	21	KEEP	---	---	---	---	capture		Silent	SNP	233497909	233497909	8570	1	G	T	T	T	587	46	KIAA1804	2	2
LYST	1130	broad.mit.edu	37	1	235894397	235894397	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235894397C>A	uc001hxj.2	-	c.8882G>T	c.(8881-8883)CGT>CTT	p.R2961L	LYST_uc001hxi.2_Missense_Mutation_p.R185L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2961					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.452381	125.565653	125.727291	38	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235894397	235894397	9505	1	C	A	A	A	247	19	LYST	1	1
ACTN2	88	broad.mit.edu	37	1	236889314	236889314	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236889314A>G	uc001hyf.2	+	c.530A>G	c.(529-531)CAT>CGT	p.H177R	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.H177R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	177	CH 2.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.178947	38.023207	47.233601	17	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236889314	236889314	206	1	A	G	G	G	104	8	ACTN2	4	4
MTR	4548	broad.mit.edu	37	1	236988699	236988699	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236988699G>T	uc001hyi.3	+	c.927G>T	c.(925-927)AAG>AAT	p.K309N	MTR_uc010pxw.1_De_novo_Start_InFrame|MTR_uc010pxx.1_Missense_Mutation_p.K309N|MTR_uc010pxy.1_Missense_Mutation_p.K309N|MTR_uc009xgj.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	309	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)									0.110294	11.904281	32.434053	15	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236988699	236988699	10351	1	G	T	T	T	451	35	MTR	2	2
RYR2	6262	broad.mit.edu	37	1	237948092	237948092	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237948092C>A	uc001hyl.1	+	c.13080C>A	c.(13078-13080)TCC>TCA	p.S4360S	RYR2_uc010pya.1_Silent_p.S775S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4360					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)											0.183673	19.751291	24.348362	9	40	KEEP	---	---	---	---	capture		Silent	SNP	237948092	237948092	14249	1	C	A	A	A	288	23	RYR2	1	1
OR2AK2	391191	broad.mit.edu	37	1	248128787	248128787	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248128787G>T	uc010pzd.1	+	c.154G>T	c.(154-156)GTT>TTT	p.V52F	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	52	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.360465	184.502939	187.450698	62	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248128787	248128787	11392	1	G	T	T	T	468	36	OR2AK2	2	2
OR2L3	391192	broad.mit.edu	37	1	248223986	248223986	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248223986G>T	uc001idx.1	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.369792	205.010183	207.894366	71	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248223986	248223986	11414	1	G	T	T	T	611	47	OR2L3	2	2
OR2T33	391195	broad.mit.edu	37	1	248436634	248436634	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248436634G>T	uc010pzi.1	-	c.483C>A	c.(481-483)ACC>ACA	p.T161T		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.333333	68.750074	70.595085	25	50	KEEP	---	---	---	---	capture		Silent	SNP	248436634	248436634	11430	1	G	T	T	T	548	43	OR2T33	2	2
OR2T6	254879	broad.mit.edu	37	1	248551394	248551394	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248551394T>C	uc001iei.1	+	c.485T>C	c.(484-486)ATT>ACT	p.I162T		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	162	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.243243	21.18055	23.485222	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248551394	248551394	11435	1	T	C	C	C	676	52	OR2T6	4	4
EXTL1	2134	broad.mit.edu	37	1	26360245	26360245	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26360245C>T	uc001blf.2	+	c.1577C>T	c.(1576-1578)ACG>ATG	p.T526M		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	526	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)										0.234043	48.561632	54.549402	22	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26360245	26360245	5519	1	C	T	T	T	247	19	EXTL1	1	1
RCC1	1104	broad.mit.edu	37	1	28858388	28858388	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28858388G>T	uc001bqf.1	+	c.240G>T	c.(238-240)GGG>GGT	p.G80G	SNHG3-RCC1_uc001bqa.1_Silent_p.G49G|SNHG3-RCC1_uc001bqb.1_Silent_p.G49G|SNHG3-RCC1_uc001bqc.1_Silent_p.G49G|RCC1_uc001bqe.1_Silent_p.G66G|RCC1_uc001bqg.1_Silent_p.G49G	NM_001048194	NP_001041659	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	49	RCC1 1.				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)										0.432432	41.270858	41.421764	16	21	KEEP	---	---	---	---	capture		Silent	SNP	28858388	28858388	13642	1	G	T	T	T	535	42	RCC1	2	2
WDR8	49856	broad.mit.edu	37	1	3564093	3564093	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3564093C>A	uc001ako.2	-	c.101G>T	c.(100-102)CGG>CTG	p.R34L	WDR8_uc001akn.3_Missense_Mutation_p.R34L|WDR8_uc010nzi.1_Missense_Mutation_p.R34L	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	34						cytoplasm	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)										0.190476	10.388039	12.268232	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3564093	3564093	17902	1	C	A	A	A	299	23	WDR8	1	1
TP73	7161	broad.mit.edu	37	1	3599737	3599737	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3599737C>G	uc001akp.2	+	c.179C>G	c.(178-180)TCT>TGT	p.S60C	TP73_uc001akq.2_Missense_Mutation_p.S60C	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	60					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)						1049				0.12963	11.486253	18.69755	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3599737	3599737	16937	1	C	G	G	G	416	32	TP73	3	3
GRIK3	2899	broad.mit.edu	37	1	37337920	37337920	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37337920G>A	uc001caz.2	-	c.601C>T	c.(601-603)CGC>TGC	p.R201C	GRIK3_uc001cba.1_Missense_Mutation_p.R201C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	201	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.314815	43.235614	44.895178	17	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37337920	37337920	7054	1	G	A	A	A	507	39	GRIK3	1	1
SCP2	6342	broad.mit.edu	37	1	53480680	53480680	+	Silent	SNP	A	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53480680A>C	uc001cur.1	+	c.1200A>C	c.(1198-1200)GTA>GTC	p.V400V	SCP2_uc001cus.1_Non-coding_Transcript|SCP2_uc010ono.1_Silent_p.V319V|SCP2_uc010onp.1_Silent_p.V376V|SCP2_uc009vzi.1_Silent_p.V356V|SCP2_uc010onq.1_5'UTR|SCP2_uc001cut.1_5'UTR|SCP2_uc001cuu.1_5'UTR	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	400					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1														0.135593	12.260272	19.855216	8	51	KEEP	---	---	---	---	capture		Silent	SNP	53480680	53480680	14416	1	A	C	C	C	158	13	SCP2	4	4
CHD5	26038	broad.mit.edu	37	1	6194275	6194275	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6194275C>A	uc001amb.1	-	c.3057G>T	c.(3055-3057)CTG>CTT	p.L1019L	CHD5_uc001alz.1_5'Flank|CHD5_uc001ama.1_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript|CHD5_uc009vlx.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1019					chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)						2304				0.306667	62.574871	65.088506	23	52	KEEP	---	---	---	---	capture		Silent	SNP	6194275	6194275	3462	1	C	A	A	A	262	21	CHD5	2	2
C1orf173	127254	broad.mit.edu	37	1	75038046	75038046	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75038046T>A	uc001dgg.2	-	c.3348A>T	c.(3346-3348)AAA>AAT	p.K1116N		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1116	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.172043	30.343345	39.798372	16	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75038046	75038046	2081	1	T	A	A	A	725	56	C1orf173	3	3
ASB17	127247	broad.mit.edu	37	1	76384715	76384716	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76384715_76384716GG>TT	uc001dhe.1	-	c.809_810CC>AA	c.(808-810)ACC>AAA	p.T270K	ASB17_uc001dhf.1_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	270	SOCS box.				intracellular signal transduction					ovary(1)	1														0.204082	24.52254	28.504371	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	76384715	76384716	1039	1	GG	TT	TT	TT	600	47	ASB17	2	2
USP33	23032	broad.mit.edu	37	1	78193990	78193990	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78193990G>A	uc001dht.2	-	c.1218C>T	c.(1216-1218)AGC>AGT	p.S406S	USP33_uc001dhs.2_Silent_p.S127S|USP33_uc001dhu.2_Silent_p.S375S|USP33_uc001dhv.2_Silent_p.S211S|USP33_uc001dhw.2_Silent_p.S406S	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	406					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1						Melanoma(152;72 1870 11110 26780 42647)								0.195122	33.273499	40.366764	16	66	KEEP	---	---	---	---	capture		Silent	SNP	78193990	78193990	17628	1	G	A	A	A	594	46	USP33	2	2
CLCA2	9635	broad.mit.edu	37	1	86891068	86891068	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86891068G>T	uc001dlr.3	+	c.233G>T	c.(232-234)AGA>ATA	p.R78I		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	78	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.254545	30.691774	33.72949	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86891068	86891068	3594	1	G	T	T	T	429	33	CLCA2	2	2
GBP4	115361	broad.mit.edu	37	1	89650993	89650993	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89650993G>T	uc001dnb.2	-	c.1867C>A	c.(1867-1869)CCT>ACT	p.P623T		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	623						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)										0.418919	96.417238	96.840504	31	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89650993	89650993	6542	1	G	T	T	T	572	44	GBP4	2	2
GBP6	163351	broad.mit.edu	37	1	89848331	89848331	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89848331A>G	uc001dnf.2	+	c.1261A>G	c.(1261-1263)ATC>GTC	p.I421V	GBP6_uc010ost.1_Missense_Mutation_p.I291V	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	421							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)										0.227273	24.39024	27.442855	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89848331	89848331	6544	1	A	G	G	G	208	16	GBP6	4	4
CST8	10047	broad.mit.edu	37	20	23476503	23476503	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23476503C>T	uc002wth.1	+	c.381C>T	c.(379-381)CCC>CCT	p.P127P		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	127						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)													0.18018	48.033515	58.708077	20	91	KEEP	---	---	---	---	capture		Silent	SNP	23476503	23476503	4119	20	C	T	T	T	301	24	CST8	2	2
CST1	1469	broad.mit.edu	37	20	23731387	23731387	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23731387G>T	uc002wtp.2	-	c.117C>A	c.(115-117)CTC>CTA	p.L39L		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	39						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)													0.326531	42.582182	43.890703	16	33	KEEP	---	---	---	---	capture		Silent	SNP	23731387	23731387	4111	20	G	T	T	T	574	45	CST1	2	2
TGM6	343641	broad.mit.edu	37	20	2411674	2411674	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2411674G>T	uc002wfy.1	+	c.1967_splice	c.e12+1	p.D656_splice	TGM6_uc010gal.1_Intron	NM_198994	NP_945345			transglutaminase 6						peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)	3					L-Glutamine(DB00130)									0.458716	160.956011	161.115177	50	59	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2411674	2411674	16362	20	G	T	T	T	468	36	TGM6	5	2
TMC2	117532	broad.mit.edu	37	20	2575512	2575512	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2575512C>A	uc002wgf.1	+	c.975C>A	c.(973-975)AAC>AAA	p.N325K	TMC2_uc002wgg.1_Missense_Mutation_p.N309K|TMC2_uc010zpw.1_Missense_Mutation_p.N157K|TMC2_uc010zpx.1_Missense_Mutation_p.N156K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	325	Extracellular (Potential).					integral to membrane				ovary(3)	3														0.150943	22.347116	34.930026	16	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2575512	2575512	16515	20	C	A	A	A	220	17	TMC2	2	2
DNMT3B	1789	broad.mit.edu	37	20	31390197	31390197	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31390197C>T	uc002wyc.2	+	c.2152C>T	c.(2152-2154)CCA>TCA	p.P718S	DNMT3B_uc002wyd.2_Missense_Mutation_p.P698S|DNMT3B_uc002wye.2_Missense_Mutation_p.P698S|DNMT3B_uc010gee.2_Non-coding_Transcript|DNMT3B_uc010gef.2_Non-coding_Transcript|DNMT3B_uc010ztz.1_Missense_Mutation_p.P656S|DNMT3B_uc010zua.1_Missense_Mutation_p.P622S|DNMT3B_uc002wyf.2_Missense_Mutation_p.P710S|DNMT3B_uc002wyg.2_Missense_Mutation_p.P417S|DNMT3B_uc010geg.2_Missense_Mutation_p.P17S|DNMT3B_uc010geh.2_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	718					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		protein binding|transcription corepressor activity|zinc ion binding			ovary(2)|lung(1)	3										1211				0.191489	60.058539	72.585277	27	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31390197	31390197	4860	20	C	T	T	T	390	30	DNMT3B	2	2
SLC4A11	83959	broad.mit.edu	37	20	3214740	3214740	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3214740A>G	uc010zqe.1	-	c.641T>C	c.(640-642)ATG>ACG	p.M214T	SLC4A11_uc002wig.2_Missense_Mutation_p.M187T|SLC4A11_uc002wih.2_Non-coding_Transcript|SLC4A11_uc010zqf.1_Missense_Mutation_p.M171T	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	187	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						NSCLC(190;922 2139 10266 10292 38692)								0.207407	51.229244	61.950237	28	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3214740	3214740	15149	20	A	G	G	G	104	8	SLC4A11	4	4
SLC4A11	83959	broad.mit.edu	37	20	3214910	3214910	+	Silent	SNP	T	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3214910T>G	uc010zqe.1	-	c.471A>C	c.(469-471)CTA>CTC	p.L157L	SLC4A11_uc002wig.2_Silent_p.L130L|SLC4A11_uc002wih.2_Non-coding_Transcript|SLC4A11_uc010zqf.1_Silent_p.L114L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	130	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						NSCLC(190;922 2139 10266 10292 38692)								0.133333	31.16556	48.773308	18	117	KEEP	---	---	---	---	capture		Silent	SNP	3214910	3214910	15149	20	T	G	G	G	678	53	SLC4A11	4	4
TRPC4AP	26133	broad.mit.edu	37	20	33608995	33608995	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33608995G>A	uc002xbk.2	-	c.1216C>T	c.(1216-1218)CAG>TAG	p.Q406*	TRPC4AP_uc010zuq.1_Intron|TRPC4AP_uc002xbl.2_Nonsense_Mutation_p.Q398*|TRPC4AP_uc010zur.1_Nonsense_Mutation_p.Q367*|TRPC4AP_uc002xbm.1_Nonsense_Mutation_p.Q406*	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	406					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00936)											0.25	32.189496	34.908117	12	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33608995	33608995	17132	20	G	A	A	A	611	47	TRPC4AP	5	2
C20orf118	140711	broad.mit.edu	37	20	35509141	35509142	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35509141_35509142CC>AA	uc002xgg.1	+	c.426_427CC>AA	c.(424-429)TCCCCA>TCAACA	p.P143T		NM_080628	NP_542195	A0PJX2	CT118_HUMAN	hypothetical protein LOC140711	143	TLD.										0		Myeloproliferative disorder(115;0.00874)												0.194805	30.876013	37.573324	15	62	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	35509141	35509142	2160	20	CC	AA	AA	AA	275	22	C20orf118	2	2
SIGLEC1	6614	broad.mit.edu	37	20	3672810	3672810	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3672810G>T	uc002wja.2	-	c.4070C>A	c.(4069-4071)TCC>TAC	p.S1357Y	SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.S1357Y	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1357	Ig-like C2-type 14.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|breast(1)|central_nervous_system(1)	8														0.129032	5.780101	9.933035	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3672810	3672810	14800	20	G	T	T	T	533	41	SIGLEC1	2	2
KIAA1755	85449	broad.mit.edu	37	20	36869726	36869726	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36869726C>T	uc002xhy.1	-	c.807G>A	c.(805-807)CAG>CAA	p.Q269Q	KIAA1755_uc002xhz.1_Silent_p.Q269Q	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	269										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.318182	99.792007	103.021247	35	75	KEEP	---	---	---	---	capture		Silent	SNP	36869726	36869726	8568	20	C	T	T	T	311	24	KIAA1755	2	2
PPP1R16B	26051	broad.mit.edu	37	20	37546983	37546983	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37546983C>T	uc002xje.2	+	c.1378C>T	c.(1378-1380)CCT>TCT	p.P460S	PPP1R16B_uc010ggc.2_Missense_Mutation_p.P418S	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	460					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			kidney(1)	1		Myeloproliferative disorder(115;0.00878)												0.300546	135.513998	142.05282	55	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37546983	37546983	12801	20	C	T	T	T	286	22	PPP1R16B	2	2
SLC12A5	57468	broad.mit.edu	37	20	44665907	44665907	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44665907C>A	uc010zxl.1	+	c.564C>A	c.(562-564)TAC>TAA	p.Y188*	SLC12A5_uc002xra.2_Nonsense_Mutation_p.Y165*|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Nonsense_Mutation_p.Y165*	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	188	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.301887	45.488855	47.341421	16	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44665907	44665907	14881	20	C	A	A	A	259	20	SLC12A5	5	2
CASS4	57091	broad.mit.edu	37	20	55027543	55027543	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55027543G>T	uc002xxp.2	+	c.1311G>T	c.(1309-1311)CTG>CTT	p.L437L	CASS4_uc002xxq.3_Silent_p.L437L|CASS4_uc002xxr.2_Silent_p.L437L|CASS4_uc010zze.1_Silent_p.L383L|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	437					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)	2														0.1	3.463168	11.432834	5	45	KEEP	---	---	---	---	capture		Silent	SNP	55027543	55027543	2802	20	G	T	T	T	600	47	CASS4	2	2
PCK1	5105	broad.mit.edu	37	20	56137929	56137929	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56137929C>A	uc002xyn.3	+	c.584C>A	c.(583-585)TCT>TAT	p.S195Y	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	195					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)											0.217391	22.023543	25.412642	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56137929	56137929	12001	20	C	A	A	A	416	32	PCK1	2	2
PAK7	57144	broad.mit.edu	37	20	9520259	9520259	+	Silent	SNP	A	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9520259A>C	uc002wnl.2	-	c.2010T>G	c.(2008-2010)TCT>TCG	p.S670S	PAK7_uc002wnk.2_Silent_p.S670S|PAK7_uc002wnj.2_Silent_p.S670S|PAK7_uc010gby.1_Silent_p.S583S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	670	Protein kinase.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(7)|skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	15			COAD - Colon adenocarcinoma(9;0.194)							177				0.054945	-20.709261	17.295335	10	172	KEEP	---	---	---	---	capture		Silent	SNP	9520259	9520259	11821	20	A	C	C	C	28	3	PAK7	4	4
TPTE	7179	broad.mit.edu	37	21	10933934	10933934	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10933934C>T	uc002yip.1	-	c.945G>A	c.(943-945)ATG>ATA	p.M315I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.M297I|TPTE_uc002yir.1_Missense_Mutation_p.M277I|TPTE_uc010gkv.1_Missense_Mutation_p.M177I	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	315	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.110672	22.406764	60.375755	28	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10933934	10933934	16974	21	C	T	T	T	273	21	TPTE	2	2
KRTAP26-1	388818	broad.mit.edu	37	21	31692093	31692093	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31692093G>T	uc002ynw.2	-	c.261C>A	c.(259-261)TAC>TAA	p.Y87*		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	87						intermediate filament				ovary(1)	1														0.342105	120.215861	122.714941	39	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31692093	31692093	8865	21	G	T	T	T	516	40	KRTAP26-1	5	1
ERG	2078	broad.mit.edu	37	21	39817490	39817490	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:39817490T>A	uc010gnw.2	-	c.94A>T	c.(94-96)ACG>TCG	p.T32S	ERG_uc002yxa.2_Missense_Mutation_p.T25S|ERG_uc011aek.1_Intron|ERG_uc010gnv.2_Intron|ERG_uc010gnx.2_Missense_Mutation_p.T32S|ERG_uc011ael.1_Missense_Mutation_p.T32S|ERG_uc002yxb.2_Missense_Mutation_p.T32S|ERG_uc011aem.1_Missense_Mutation_p.T25S|ERG_uc002yxc.3_Missense_Mutation_p.T32S	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	32					cell proliferation|multicellular organismal development|protein phosphorylation|regulation of transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2058)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2058)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|ovary(1)	2386		Prostate(19;3.6e-06)				Esophageal Squamous(130;336 1700 3010 3083 40589)				177				0.275862	19.985123	21.298683	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39817490	39817490	5415	21	T	A	A	A	780	60	ERG	3	3
COL6A1	1291	broad.mit.edu	37	21	47410685	47410685	+	Splice_Site_SNP	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47410685A>T	uc002zhu.1	+	c.1003_splice	c.e14-2	p.G335_splice		NM_001848	NP_001839			collagen, type VI, alpha 1 precursor						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)									0.327273	55.642114	57.091806	18	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47410685	47410685	3837	21	A	T	T	T	91	7	COL6A1	5	3
POTEH	23784	broad.mit.edu	37	22	16287396	16287396	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:16287396C>A	uc010gqp.2	-	c.490G>T	c.(490-492)GCT>TCT	p.A164S	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	164											0														0.119792	24.864991	51.96023	23	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16287396	16287396	12697	22	C	A	A	A	351	27	POTEH	1	1
VPREB1	7441	broad.mit.edu	37	22	22599636	22599636	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22599636G>T	uc002zvx.1	+	c.325G>T	c.(325-327)GAC>TAC	p.D109Y	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	109	Ig-like V-type.|Framework-3.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)										0.322581	24.739391	25.605912	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22599636	22599636	17753	22	G	T	T	T	533	41	VPREB1	2	2
RFPL2	10739	broad.mit.edu	37	22	32586793	32586793	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32586793G>T	uc003amg.3	-	c.1103C>A	c.(1102-1104)ACT>AAT	p.T368N	RFPL2_uc003ame.3_Missense_Mutation_p.T307N|RFPL2_uc003amf.3_Missense_Mutation_p.T278N|RFPL2_uc003amh.3_Missense_Mutation_p.T278N	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	368							zinc ion binding				0														0.349515	107.480163	109.533183	36	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32586793	32586793	13725	22	G	T	T	T	468	36	RFPL2	2	2
MYH9	4627	broad.mit.edu	37	22	36708174	36708174	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:36708174G>A	uc003apg.2	-	c.1648C>T	c.(1648-1650)CAG>TAG	p.Q550*	MYH9_uc003aph.1_Nonsense_Mutation_p.Q414*	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	550	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	10										1624				0.107692	5.884222	15.80042	7	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36708174	36708174	10437	22	G	A	A	A	598	46	MYH9	5	2
PNPLA3	80339	broad.mit.edu	37	22	44332968	44332968	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44332968C>T	uc003bei.1	+	c.795C>T	c.(793-795)TCC>TCT	p.S265S	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	265	Lumenal (Potential).				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)												0.275862	23.187447	24.499046	8	21	KEEP	---	---	---	---	capture		Silent	SNP	44332968	44332968	12593	22	C	T	T	T	301	24	PNPLA3	2	2
CHST10	9486	broad.mit.edu	37	2	101012006	101012006	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101012006C>T	uc002tam.2	-	c.498G>A	c.(496-498)CGG>CGA	p.R166R		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	166	Lumenal (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1														0.232877	37.762957	42.520853	17	56	KEEP	---	---	---	---	capture		Silent	SNP	101012006	101012006	3532	2	C	T	T	T	327	26	CHST10	2	2
GPR45	11250	broad.mit.edu	37	2	105859262	105859262	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:105859262A>T	uc002tco.1	+	c.947A>T	c.(946-948)AAG>ATG	p.K316M		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	316	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)	2														0.118056	15.026807	35.835747	17	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105859262	105859262	6971	2	A	T	T	T	39	3	GPR45	3	3
MERTK	10461	broad.mit.edu	37	2	112740486	112740486	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:112740486A>T	uc002thk.1	+	c.1212A>T	c.(1210-1212)AGA>AGT	p.R404S	MERTK_uc002thl.1_Missense_Mutation_p.R228S	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	404	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration|protein phosphorylation|visual perception	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|kidney(1)	6										602				0.090278	7.781463	32.15026	13	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112740486	112740486	9868	2	A	T	T	T	154	12	MERTK	3	3
GREB1	9687	broad.mit.edu	37	2	11756801	11756801	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11756801C>T	uc002rbk.1	+	c.3367C>T	c.(3367-3369)CGC>TGC	p.R1123C	GREB1_uc002rbp.1_Missense_Mutation_p.R121C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1123	Ser-rich.					integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		Ovarian(39;850 945 2785 23371 33093)								0.275862	108.575387	115.110487	40	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11756801	11756801	7037	2	C	T	T	T	299	23	GREB1	1	1
NTSR2	23620	broad.mit.edu	37	2	11798797	11798797	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11798797G>C	uc002rbq.3	-	c.1041C>G	c.(1039-1041)TTC>TTG	p.F347L		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	347	Helical; Name=7; (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)									0.320513	75.848185	78.080145	25	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11798797	11798797	11116	2	G	C	C	C	425	33	NTSR2	3	3
CNTNAP5	129684	broad.mit.edu	37	2	125504849	125504849	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125504849G>T	uc010flu.2	+	c.2121G>T	c.(2119-2121)AGG>AGT	p.R707S	CNTNAP5_uc002tno.2_Missense_Mutation_p.R706S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	706	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.14	7.083134	13.365988	7	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125504849	125504849	3788	2	G	T	T	T	542	42	CNTNAP5	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125521593	125521593	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125521593C>G	uc010flu.2	+	c.2402C>G	c.(2401-2403)TCT>TGT	p.S801C	CNTNAP5_uc002tno.2_Missense_Mutation_p.S800C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	800	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.151515	20.103584	27.78426	10	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125521593	125521593	3788	2	C	G	G	G	416	32	CNTNAP5	3	3
CNTNAP5	129684	broad.mit.edu	37	2	125521627	125521627	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125521627C>G	uc010flu.2	+	c.2436C>G	c.(2434-2436)TTC>TTG	p.F812L	CNTNAP5_uc002tno.2_Missense_Mutation_p.F811L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	811	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.094595	5.878422	18.083899	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125521627	125521627	3788	2	C	G	G	G	376	29	CNTNAP5	3	3
CNTNAP5	129684	broad.mit.edu	37	2	125521645	125521645	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125521645C>G	uc010flu.2	+	c.2454C>G	c.(2452-2454)TTC>TTG	p.F818L	CNTNAP5_uc002tno.2_Missense_Mutation_p.F817L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	817	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.128205	15.893068	26.40212	10	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125521645	125521645	3788	2	C	G	G	G	415	32	CNTNAP5	3	3
CNTNAP5	129684	broad.mit.edu	37	2	125521699	125521699	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125521699A>T	uc010flu.2	+	c.2508A>T	c.(2506-2508)AAA>AAT	p.K836N	CNTNAP5_uc002tno.2_Missense_Mutation_p.K835N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	835	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.216216	38.072378	43.561088	16	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125521699	125521699	3788	2	A	T	T	T	37	3	CNTNAP5	3	3
CCDC74A	90557	broad.mit.edu	37	2	132290238	132290238	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132290238G>T	uc002tta.2	+	c.760G>T	c.(760-762)GCG>TCG	p.A254S	CCDC74A_uc002ttb.2_Missense_Mutation_p.A188S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	254											0														0.14876	24.927134	39.221471	18	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132290238	132290238	2970	2	G	T	T	T	546	42	CCDC74A	2	2
GPR39	2863	broad.mit.edu	37	2	133175302	133175302	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133175302G>T	uc002ttl.2	+	c.687G>T	c.(685-687)GTG>GTT	p.V229V		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	229	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0														0.207547	24.204958	28.398148	11	42	KEEP	---	---	---	---	capture		Silent	SNP	133175302	133175302	6968	2	G	T	T	T	600	47	GPR39	2	2
LRP1B	53353	broad.mit.edu	37	2	141819697	141819697	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141819697C>T	uc002tvj.1	-	c.1159G>A	c.(1159-1161)GTA>ATA	p.V387I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	387	Extracellular (Potential).|LDL-receptor class B 4.				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)			0.151786	29.386201	42.428132	17	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141819697	141819697	9328	2	C	T	T	T	234	18	LRP1B	2	2
TPO	7173	broad.mit.edu	37	2	1426887	1426887	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1426887C>A	uc002qww.2	+	c.165C>A	c.(163-165)TAC>TAA	p.Y55*	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Nonsense_Mutation_p.Y55*|TPO_uc002qwu.2_Nonsense_Mutation_p.Y55*|TPO_uc002qwr.2_Nonsense_Mutation_p.Y55*|TPO_uc002qwx.2_Nonsense_Mutation_p.Y55*|TPO_uc010yio.1_Nonsense_Mutation_p.Y55*|TPO_uc010yip.1_Nonsense_Mutation_p.Y55*	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	55	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.205882	16.811652	19.53613	7	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1426887	1426887	16954	2	C	A	A	A	246	19	TPO	5	1
SCN9A	6335	broad.mit.edu	37	2	167151151	167151151	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167151151C>G	uc010fpl.2	-	c.923G>C	c.(922-924)GGA>GCA	p.G308A	SCN9A_uc002udr.1_Missense_Mutation_p.G179A|SCN9A_uc002uds.1_Missense_Mutation_p.G179A|SCN9A_uc002udt.1_Missense_Mutation_p.G179A	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	308	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.444444	23.668531	23.720551	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167151151	167151151	14407	2	C	G	G	G	390	30	SCN9A	3	3
XIRP2	129446	broad.mit.edu	37	2	168099781	168099781	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168099781G>A	uc002udx.2	+	c.1879G>A	c.(1879-1881)GAC>AAC	p.D627N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D452N|XIRP2_uc010fpq.2_Missense_Mutation_p.D405N|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	452	Xin 3.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.307692	51.6956	53.890236	20	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168099781	168099781	18011	2	G	A	A	A	481	37	XIRP2	1	1
XIRP2	129446	broad.mit.edu	37	2	168100426	168100426	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168100426T>C	uc002udx.2	+	c.2524T>C	c.(2524-2526)TGT>CGT	p.C842R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.C667R|XIRP2_uc010fpq.2_Missense_Mutation_p.C620R|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	667	Xin 9.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.080357	0.72233	20.803454	9	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168100426	168100426	18011	2	T	C	C	C	767	59	XIRP2	4	4
FASTKD1	79675	broad.mit.edu	37	2	170428515	170428515	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170428515C>A	uc002uev.3	-	c.25G>T	c.(25-27)GAG>TAG	p.E9*	FASTKD1_uc002uew.3_Non-coding_Transcript|FASTKD1_uc002uex.3_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	9					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4														0.097222	4.075295	15.772405	7	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	170428515	170428515	5921	2	C	A	A	A	416	32	FASTKD1	5	2
TTN	7273	broad.mit.edu	37	2	179454471	179454471	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179454471G>A	uc010zfg.1	-	c.54277C>T	c.(54277-54279)CTG>TTG	p.L18093L	TTN_uc010zfh.1_Silent_p.L11788L|TTN_uc010zfi.1_Silent_p.L11721L|TTN_uc010zfj.1_Silent_p.L11596L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4351										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				0.059829	-16.946534	30.517284	14	220	KEEP	---	---	---	---	capture		Silent	SNP	179454471	179454471	17290	2	G	A	A	A	425	33	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179484999	179484999	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179484999C>T	uc010zfg.1	-	c.38545G>A	c.(38545-38547)GAG>AAG	p.E12849K	TTN_uc010zfh.1_Missense_Mutation_p.E6544K|TTN_uc010zfi.1_Missense_Mutation_p.E6477K|TTN_uc010zfj.1_Missense_Mutation_p.E6352K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3173										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				0.058333	-8.600065	15.862384	7	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179484999	179484999	17290	2	C	T	T	T	416	32	TTN	2	2
GEN1	348654	broad.mit.edu	37	2	17953995	17953995	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17953995G>T	uc002rct.2	+	c.897G>T	c.(895-897)GAG>GAT	p.E299D	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E299D|GEN1_uc002rcu.2_Missense_Mutation_p.E299D	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	299					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)													0.156863	16.710479	22.404556	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17953995	17953995	6603	2	G	T	T	T	464	36	GEN1	2	2
TTN	7273	broad.mit.edu	37	2	179648807	179648807	+	Missense_Mutation	SNP	C	A	A	rs56046320		TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179648807C>A	uc010zfg.1	-	c.2765G>T	c.(2764-2766)CGC>CTC	p.R922L	TTN_uc010zfh.1_Missense_Mutation_p.R876L|TTN_uc010zfi.1_Missense_Mutation_p.R876L|TTN_uc010zfj.1_Missense_Mutation_p.R876L|TTN_uc002unb.2_Missense_Mutation_p.R922L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	922										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)						p.R922H(MOLT16-Tumor)	8722				0.123288	11.053703	21.165465	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179648807	179648807	17290	2	C	A	A	A	351	27	TTN	1	1
CCDC141	285025	broad.mit.edu	37	2	179718292	179718292	+	Silent	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179718292T>C	uc002unf.1	-	c.1395A>G	c.(1393-1395)ACA>ACG	p.T465T		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	465							protein binding			ovary(7)|pancreas(2)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.089888	2.62911	17.74353	8	81	KEEP	---	---	---	---	capture		Silent	SNP	179718292	179718292	2895	2	T	C	C	C	704	55	CCDC141	4	4
ITGA4	3676	broad.mit.edu	37	2	182360581	182360581	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182360581G>C	uc002unu.2	+	c.1457G>C	c.(1456-1458)TGT>TCT	p.C486S	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	486	Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)									0.098361	11.601359	31.304302	12	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182360581	182360581	8182	2	G	C	C	C	624	48	ITGA4	3	3
PPP1R1C	151242	broad.mit.edu	37	2	182850885	182850885	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182850885C>A	uc010frm.1	+	c.48C>A	c.(46-48)TTC>TTA	p.F16L	PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uoo.2_Missense_Mutation_p.F16L|PPP1R1C_uc002uop.1_Missense_Mutation_p.F16L|PPP1R1C_uc010frn.1_Non-coding_Transcript	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	16					signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)											0.101266	4.64094	17.178167	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182850885	182850885	12804	2	C	A	A	A	389	30	PPP1R1C	2	2
ZSWIM2	151112	broad.mit.edu	37	2	187703837	187703837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187703837G>A	uc002upu.1	-	c.343C>T	c.(343-345)CGA>TGA	p.R115*		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	115					apoptosis		zinc ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)											0.047337	-20.111682	16.738891	8	161	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	187703837	187703837	18845	2	G	A	A	A	480	37	ZSWIM2	5	1
DNAH7	56171	broad.mit.edu	37	2	196753131	196753131	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196753131C>A	uc002utj.3	-	c.5257G>T	c.(5257-5259)GAG>TAG	p.E1753*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1753	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.105263	2.67273	8.559762	4	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196753131	196753131	4789	2	C	A	A	A	390	30	DNAH7	5	2
ADAM23	8745	broad.mit.edu	37	2	207429762	207429762	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207429762C>A	uc002vbq.2	+	c.1364C>A	c.(1363-1365)TCC>TAC	p.S455Y	ADAM23_uc010ziv.1_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	455	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		Melanoma(194;1127 2130 19620 24042 27855)								0.083333	-2.084423	12.935298	7	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207429762	207429762	246	2	C	A	A	A	390	30	ADAM23	2	2
MAP2	4133	broad.mit.edu	37	2	210543380	210543380	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210543380A>G	uc002vde.1	+	c.347A>G	c.(346-348)CAT>CGT	p.H116R	MAP2_uc002vdc.1_Missense_Mutation_p.H116R|MAP2_uc002vdd.1_Missense_Mutation_p.H116R|MAP2_uc002vdf.1_Missense_Mutation_p.H116R|MAP2_uc002vdg.1_Missense_Mutation_p.H116R|MAP2_uc002vdh.1_Missense_Mutation_p.H116R|MAP2_uc002vdi.1_Missense_Mutation_p.H116R	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	116					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|large_intestine(2)|pancreas(2)|central_nervous_system(1)	14		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	Pancreas(27;423 979 28787 29963)								0.135135	9.411147	14.132767	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210543380	210543380	9618	2	A	G	G	G	104	8	MAP2	4	4
CPS1	1373	broad.mit.edu	37	2	211455616	211455616	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211455616G>A	uc010fur.2	+	c.951G>A	c.(949-951)ATG>ATA	p.M317I	CPS1_uc002vee.3_Missense_Mutation_p.M311I|CPS1_uc010fus.2_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	311	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.121951	6.080387	11.791232	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211455616	211455616	3961	2	G	A	A	A	624	48	CPS1	2	2
ABCA12	26154	broad.mit.edu	37	2	215884140	215884140	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215884140A>T	uc002vew.2	-	c.1577T>A	c.(1576-1578)TTG>TAG	p.L526*	ABCA12_uc002vev.2_Nonsense_Mutation_p.L208*|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	526					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		Ovarian(66;664 1488 5121 34295)								0.074074	-2.417088	12.680428	6	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	215884140	215884140	31	2	A	T	T	T	65	5	ABCA12	5	3
SPEG	10290	broad.mit.edu	37	2	220346034	220346034	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220346034G>C	uc010fwg.2	+	c.5378G>C	c.(5377-5379)GGA>GCA	p.G1793A		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1793	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)					p.G1793E(NCIH2066-Tumor)	482				0.141026	20.172583	29.8703	11	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220346034	220346034	15548	2	G	C	C	C	533	41	SPEG	3	3
CCL20	6364	broad.mit.edu	37	2	228681090	228681090	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228681090C>G	uc002vpl.2	+	c.259C>G	c.(259-261)CGT>GGT	p.R87G	CCL20_uc002vpm.2_Missense_Mutation_p.R86G	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	87					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)										0.067568	-3.574031	10.747271	5	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228681090	228681090	3017	2	C	G	G	G	351	27	CCL20	3	3
TRIP12	9320	broad.mit.edu	37	2	230723713	230723713	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230723713T>C	uc002vpx.1	-	c.802A>G	c.(802-804)AAA>GAA	p.K268E	TRIP12_uc002vpw.1_Missense_Mutation_p.K226E|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Missense_Mutation_p.K226E	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	226					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|breast(1)|central_nervous_system(1)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)										0.090909	3.581706	10.99003	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230723713	230723713	17106	2	T	C	C	C	832	64	TRIP12	4	4
NMUR1	10316	broad.mit.edu	37	2	232390093	232390093	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232390093G>T	uc002vry.3	-	c.942C>A	c.(940-942)CAC>CAA	p.H314Q		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	314	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			central_nervous_system(1)|pancreas(1)	2		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)										0.097561	3.035899	9.629257	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232390093	232390093	10909	2	G	T	T	T	516	40	NMUR1	1	1
ECEL1	9427	broad.mit.edu	37	2	233344908	233344908	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233344908G>T	uc002vsv.2	-	c.2283C>A	c.(2281-2283)CCC>CCA	p.P761P	ECEL1_uc010fya.1_Silent_p.P759P|ECEL1_uc010fyb.1_Silent_p.P468P	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	761	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.305556	30.316121	31.527557	11	25	KEEP	---	---	---	---	capture		Silent	SNP	233344908	233344908	5078	2	G	T	T	T	600	47	ECEL1	2	2
SH3BP4	23677	broad.mit.edu	37	2	235951092	235951092	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:235951092G>T	uc002vvp.2	+	c.1679G>T	c.(1678-1680)CGA>CTA	p.R560L	SH3BP4_uc010fym.2_Missense_Mutation_p.R560L|SH3BP4_uc002vvq.2_Missense_Mutation_p.R560L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	560					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			ovary(1)|skin(1)	2		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)										0.301587	54.508328	56.718956	19	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235951092	235951092	14737	2	G	T	T	T	481	37	SH3BP4	1	1
MLPH	79083	broad.mit.edu	37	2	238419635	238419635	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238419635C>A	uc002vwt.2	+	c.336C>A	c.(334-336)GTC>GTA	p.V112V	MLPH_uc002vws.2_Silent_p.V112V|MLPH_uc010fyt.1_Silent_p.V112V|MLPH_uc002vwu.2_Silent_p.V112V|MLPH_uc002vwv.2_Silent_p.V112V|MLPH_uc002vww.2_Silent_p.V88V	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	112	RabBD.						zinc ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)										0.187817	69.514368	87.596744	37	160	KEEP	---	---	---	---	capture		Silent	SNP	238419635	238419635	10023	2	C	A	A	A	392	31	MLPH	1	1
OR6B2	389090	broad.mit.edu	37	2	240969497	240969497	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240969497G>A	uc002vyr.2	-	c.350C>T	c.(349-351)TCC>TTC	p.S117F	OR6B2_uc010zoc.1_Missense_Mutation_p.S117F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)										0.25	20.991431	22.804807	8	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240969497	240969497	11598	2	G	A	A	A	533	41	OR6B2	2	2
C2orf44	80304	broad.mit.edu	37	2	24255711	24255711	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24255711C>A	uc002rep.2	-	c.1924G>T	c.(1924-1926)GAA>TAA	p.E642*	C2orf44_uc010eya.2_Intron	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	642							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.157895	29.890573	42.604963	18	96	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24255711	24255711	2256	2	C	A	A	A	377	29	C2orf44	5	2
C2orf71	388939	broad.mit.edu	37	2	29295578	29295578	+	Nonsense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29295578G>C	uc002rmt.1	-	c.1550C>G	c.(1549-1551)TCA>TGA	p.S517*		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	517					response to stimulus|visual perception	photoreceptor outer segment					0														0.117647	19.650459	36.680713	14	105	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29295578	29295578	2279	2	G	C	C	C	585	45	C2orf71	5	3
VIT	5212	broad.mit.edu	37	2	37028518	37028519	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37028518_37028519TT>AA	uc002rpl.2	+	c.1133_1134TT>AA	c.(1132-1134)ATT>AAA	p.I378K	VIT_uc002rpm.2_Missense_Mutation_p.I356K|VIT_uc010ezv.2_Missense_Mutation_p.I334K|VIT_uc010ezw.2_Missense_Mutation_p.I335K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	363	VWFA 1.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)												0.120567	19.742914	39.764296	17	124	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	37028518	37028519	17738	2	TT	AA	AA	AA	676	52	VIT	3	3
PLEKHH2	130271	broad.mit.edu	37	2	43969890	43969890	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:43969890G>T	uc010yny.1	+	c.3232G>T	c.(3232-3234)GGA>TGA	p.G1078*		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1078	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.142857	7.38017	10.822115	4	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43969890	43969890	12503	2	G	T	T	T	611	47	PLEKHH2	5	2
SLC3A1	6519	broad.mit.edu	37	2	44502977	44502977	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44502977C>A	uc002ruc.3	+	c.303C>A	c.(301-303)ATC>ATA	p.I101I	SLC3A1_uc002rty.2_Silent_p.I101I|SLC3A1_uc002rtz.2_Silent_p.I101I|SLC3A1_uc002rua.2_Silent_p.I101I|SLC3A1_uc002rub.2_Silent_p.I101I	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	101	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)									0.263158	38.912346	41.795604	15	42	KEEP	---	---	---	---	capture		Silent	SNP	44502977	44502977	15123	2	C	A	A	A	395	31	SLC3A1	1	1
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809304	48809304	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48809304G>A	uc002rwp.1	+	c.1532G>A	c.(1531-1533)CGG>CAG	p.R511Q	STON1_uc002rwo.3_Missense_Mutation_p.R511Q|STON1_uc010fbm.2_Missense_Mutation_p.R511Q|STON1-GTF2A1L_uc010yol.1_Missense_Mutation_p.R511Q|STON1_uc002rwr.2_Non-coding_Transcript|STON1_uc002rwq.2_Missense_Mutation_p.R511Q	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	STON1-GTF2A1L protein	511					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)											0.068376	-4.132647	18.353756	8	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48809304	48809304	15837	2	G	A	A	A	507	39	STON1-GTF2A1L	1	1
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48872253	48872253	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48872253T>C	uc002rwp.1	+	c.2497T>C	c.(2497-2499)TCT>CCT	p.S833P	STON1-GTF2A1L_uc010yol.1_Intron|GTF2A1L_uc002rws.1_Missense_Mutation_p.S129P|GTF2A1L_uc010yom.1_Missense_Mutation_p.S95P|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S129P	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	STON1-GTF2A1L protein	786					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)											0.135593	12.470545	20.091804	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48872253	48872253	15837	2	T	C	C	C	650	50	STON1-GTF2A1L	4	4
FSHR	2492	broad.mit.edu	37	2	49210116	49210116	+	Missense_Mutation	SNP	G	C	C	rs75552966	byFrequency;by1000genomes	TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49210116G>C	uc002rww.2	-	c.603C>G	c.(601-603)AGC>AGG	p.S201R	FSHR_uc002rwx.2_Missense_Mutation_p.S201R|FSHR_uc010fbn.2_Missense_Mutation_p.S175R	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	201	LRR 7.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.217391	24.401072	27.819479	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49210116	49210116	6324	2	G	C	C	C	490	38	FSHR	3	3
NRXN1	9378	broad.mit.edu	37	2	50765556	50765556	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50765556C>A	uc010fbq.2	-	c.2098G>T	c.(2098-2100)GCT>TCT	p.A700S	NRXN1_uc002rxb.3_Missense_Mutation_p.A332S|NRXN1_uc002rxe.3_Missense_Mutation_p.A660S|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.22905	185.490106	209.598593	82	276	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50765556	50765556	11070	2	C	A	A	A	338	26	NRXN1	2	2
NRXN1	9378	broad.mit.edu	37	2	50765686	50765686	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50765686C>T	uc010fbq.2	-	c.1968G>A	c.(1966-1968)GGG>GGA	p.G656G	NRXN1_uc002rxb.3_Silent_p.G288G|NRXN1_uc002rxe.3_Silent_p.G616G|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	220	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)											0.082353	1.286278	16.345383	7	78	KEEP	---	---	---	---	capture		Silent	SNP	50765686	50765686	11070	2	C	T	T	T	275	22	NRXN1	2	2
NRXN1	9378	broad.mit.edu	37	2	51255041	51255041	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:51255041C>A	uc010fbq.2	-	c.371G>T	c.(370-372)CGC>CTC	p.R124L	NRXN1_uc002rxe.3_Missense_Mutation_p.R124L|NRXN1_uc002rxd.1_Missense_Mutation_p.R124L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	187	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)											0.310345	25.455703	26.39013	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51255041	51255041	11070	2	C	A	A	A	351	27	NRXN1	1	1
XPO1	7514	broad.mit.edu	37	2	61720116	61720117	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61720116_61720117CT>TA	uc002sbj.2	-	c.1317_1318AG>TA	c.(1315-1320)GAAGTT>GATATT	p.439_440EV>DI	XPO1_uc010fcl.2_Missense_Mutation_p.435_436EV>DI|XPO1_uc010ypn.1_Missense_Mutation_p.435_436EV>DI|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_Missense_Mutation_p.86_87EV>DI	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	439_440	HEAT 3.|Necessary for HTLV-1 Rex-mediated mRNA export.|Interaction with RANBP3.|Interaction with Ran and nuclear export complex formation.			VLVVENDQGEVVREFMK->DEDEENDQGEDEEEDDD: Partially restores Ran binding activity in presence of cargo.|EEVLVVENDQGEVVREFMKD->QQVLVVQNNQGQVVRQFMK N: Abolishes Ran binding activity in absence of cargo and abolishes partially Ran binding activity in presence of cargo.	intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)											0.106557	11.09428	29.837543	13	109	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	61720116	61720117	18028	2	CT	TA	TA	TA	260	20	XPO1	2	2
CLEC4F	165530	broad.mit.edu	37	2	71043523	71043523	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71043523T>A	uc002shf.2	-	c.990A>T	c.(988-990)GAA>GAT	p.E330D	CLEC4F_uc010yqv.1_Missense_Mutation_p.E330D	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	330	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						Colon(107;10 2157 6841 26035)								0.224299	55.247589	62.720166	24	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71043523	71043523	3654	2	T	A	A	A	829	64	CLEC4F	3	3
DYSF	8291	broad.mit.edu	37	2	71780983	71780983	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71780983G>T	uc010fen.2	+	c.2031G>T	c.(2029-2031)GTG>GTT	p.V677V	DYSF_uc010feg.2_Silent_p.V690V|DYSF_uc010feh.2_Silent_p.V645V|DYSF_uc002sig.3_Silent_p.V645V|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Silent_p.V659V|DYSF_uc010fef.2_Silent_p.V676V|DYSF_uc002sie.2_Silent_p.V659V|DYSF_uc010fei.2_Silent_p.V676V|DYSF_uc010fek.2_Silent_p.V677V|DYSF_uc010fej.2_Silent_p.V646V|DYSF_uc010fel.2_Silent_p.V646V|DYSF_uc010feo.2_Silent_p.V691V|DYSF_uc010fem.2_Silent_p.V660V|DYSF_uc002sif.2_Silent_p.V660V	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	659	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.192308	10.464126	12.760233	5	21	KEEP	---	---	---	---	capture		Silent	SNP	71780983	71780983	5045	2	G	T	T	T	600	47	DYSF	2	2
CTNNA2	1496	broad.mit.edu	37	2	79878745	79878745	+	Silent	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79878745G>C	uc010ysh.1	+	c.63G>C	c.(61-63)ACG>ACC	p.T21T	CTNNA2_uc010yse.1_Silent_p.T21T|CTNNA2_uc010ysf.1_Silent_p.T21T|CTNNA2_uc010ysg.1_Silent_p.T21T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	21					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.2	22.983905	27.127022	10	40	KEEP	---	---	---	---	capture		Silent	SNP	79878745	79878745	4172	2	G	C	C	C	483	38	CTNNA2	3	3
MBOAT2	129642	broad.mit.edu	37	2	9098626	9098626	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:9098626C>A	uc002qzg.1	-	c.221G>T	c.(220-222)TGG>TTG	p.W74L	MBOAT2_uc010yix.1_Missense_Mutation_p.W74L	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain	74	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					Ovarian(194;1699 3813 22401)								0.142857	13.661013	20.544937	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9098626	9098626	9745	2	C	A	A	A	273	21	MBOAT2	2	2
ZNF2	7549	broad.mit.edu	37	2	95847560	95847560	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:95847560G>T	uc002suf.2	+	c.984G>T	c.(982-984)CTG>CTT	p.L328L	ZNF2_uc002sug.2_Silent_p.L286L|ZNF2_uc010yue.1_Silent_p.L291L|ZNF2_uc010fhs.2_Silent_p.L249L	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	328	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)										0.19697	28.635715	34.282696	13	53	KEEP	---	---	---	---	capture		Silent	SNP	95847560	95847560	18351	2	G	T	T	T	574	45	ZNF2	2	2
ZBTB11	27107	broad.mit.edu	37	3	101390880	101390880	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101390880G>A	uc003dve.3	-	c.488C>T	c.(487-489)CCA>CTA	p.P163L	ZBTB11_uc003dvf.2_Missense_Mutation_p.P163L	NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.085366	0.275271	14.568287	7	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101390880	101390880	18110	3	G	A	A	A	611	47	ZBTB11	2	2
CEP97	79598	broad.mit.edu	37	3	101477085	101477085	+	Silent	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101477085T>C	uc003dvk.1	+	c.1635T>C	c.(1633-1635)TCT>TCC	p.S545S	CEP97_uc010hpm.1_Silent_p.S511S|CEP97_uc011bhf.1_Silent_p.S486S|CEP97_uc003dvl.1_Silent_p.S241S|CEP97_uc003dvm.1_Silent_p.S383S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	545	CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2														0.330275	101.461506	104.245127	36	73	KEEP	---	---	---	---	capture		Silent	SNP	101477085	101477085	3396	3	T	C	C	C	704	55	CEP97	4	4
PHLDB2	90102	broad.mit.edu	37	3	111603084	111603084	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111603084G>T	uc010hqa.2	+	c.160G>T	c.(160-162)GAC>TAC	p.D54Y	PHLDB2_uc003dyc.2_Missense_Mutation_p.D81Y|PHLDB2_uc003dyd.2_Missense_Mutation_p.D54Y|PHLDB2_uc003dyg.2_Missense_Mutation_p.D54Y|PHLDB2_uc003dyh.2_Missense_Mutation_p.D54Y|PHLDB2_uc003dye.3_Missense_Mutation_p.D54Y|PHLDB2_uc003dyf.3_Missense_Mutation_p.D54Y	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	54						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)	4														0.15493	35.364902	51.520002	22	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111603084	111603084	12276	3	G	T	T	T	429	33	PHLDB2	2	2
PHLDB2	90102	broad.mit.edu	37	3	111672842	111672843	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111672842_111672843GG>TT	uc010hqa.2	+	c.2838_2839GG>TT	c.(2836-2841)ATGGCC>ATTTCC	p.946_947MA>IS	PHLDB2_uc003dyc.2_Missense_Mutation_p.930_931MA>IS|PHLDB2_uc003dyd.2_Missense_Mutation_p.903_904MA>IS|PHLDB2_uc003dyg.2_Missense_Mutation_p.946_947MA>IS|PHLDB2_uc003dyh.2_Missense_Mutation_p.903_904MA>IS|PHLDB2_uc003dyi.2_Missense_Mutation_p.437_438MA>IS	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	946_947						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)	4														0.272727	18.042776	19.065358	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	111672842	111672843	12276	3	GG	TT	TT	TT	611	47	PHLDB2	2	2
DRD3	1814	broad.mit.edu	37	3	113850048	113850048	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113850048G>A	uc003ebd.2	-	c.923C>T	c.(922-924)ACA>ATA	p.T308I	DRD3_uc010hqn.1_Missense_Mutation_p.T308I|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Missense_Mutation_p.T308I	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	308	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|dopamine metabolic process|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|regulation of dopamine uptake|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)									0.149068	36.493043	55.519919	24	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113850048	113850048	4942	3	G	A	A	A	624	48	DRD3	2	2
C3orf30	152405	broad.mit.edu	37	3	118866368	118866368	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118866368C>A	uc003ecb.1	+	c.1332C>A	c.(1330-1332)CCC>CCA	p.P444P	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.P444P	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	444										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)										0.089286	1.333365	10.872593	5	51	KEEP	---	---	---	---	capture		Silent	SNP	118866368	118866368	2313	3	C	A	A	A	301	24	C3orf30	2	2
ADPRH	141	broad.mit.edu	37	3	119306668	119306668	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119306668G>A	uc003ecs.2	+	c.1017G>A	c.(1015-1017)GAG>GAA	p.E339E	ADPRH_uc010hqv.2_Silent_p.E339E|ADPRH_uc011bjb.1_Silent_p.E232E|ADPRH_uc003ect.2_Silent_p.E339E	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	339					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GBM(133;579 1804 5989 9967 40052)								0.313253	71.572089	74.177371	26	57	KEEP	---	---	---	---	capture		Silent	SNP	119306668	119306668	332	3	G	A	A	A	425	33	ADPRH	2	2
ADCY5	111	broad.mit.edu	37	3	123019029	123019029	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123019029G>T	uc003egh.1	-	c.2838C>A	c.(2836-2838)ATC>ATA	p.I946I	ADCY5_uc003egg.1_Silent_p.I579I|ADCY5_uc003egi.1_Silent_p.I505I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	946	Helical; (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)										0.16	14.580352	20.074767	8	42	KEEP	---	---	---	---	capture		Silent	SNP	123019029	123019029	298	3	G	T	T	T	473	37	ADCY5	1	1
CCDC14	64770	broad.mit.edu	37	3	123633773	123633773	+	Silent	SNP	A	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123633773A>C	uc011bjx.1	-	c.2715T>G	c.(2713-2715)ACT>ACG	p.T905T	CCDC14_uc003egv.3_Silent_p.T546T|CCDC14_uc003egx.3_Silent_p.T705T|CCDC14_uc010hrt.2_Silent_p.T864T|CCDC14_uc003egy.3_Silent_p.T705T|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	905											0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)										0.142857	8.280691	11.721946	4	24	KEEP	---	---	---	---	capture		Silent	SNP	123633773	123633773	2893	3	A	C	C	C	28	3	CCDC14	4	4
KALRN	8997	broad.mit.edu	37	3	124211594	124211594	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124211594A>G	uc003ehg.2	+	c.4691A>G	c.(4690-4692)AAC>AGC	p.N1564S	KALRN_uc010hrv.1_Missense_Mutation_p.N1555S|KALRN_uc003ehf.1_Missense_Mutation_p.N1564S|KALRN_uc011bjy.1_Missense_Mutation_p.N1555S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1564	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.142857	11.320345	16.483696	6	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124211594	124211594	8279	3	A	G	G	G	26	2	KALRN	4	4
PODXL2	50512	broad.mit.edu	37	3	127379946	127379946	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:127379946C>A	uc003ejq.2	+	c.1075C>A	c.(1075-1077)CTC>ATC	p.L359I		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	359	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2														0.265306	33.952764	36.391896	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127379946	127379946	12609	3	C	A	A	A	364	28	PODXL2	2	2
CNTN6	27255	broad.mit.edu	37	3	1367631	1367631	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:1367631C>T	uc003boz.2	+	c.1079C>T	c.(1078-1080)CCA>CTA	p.P360L	CNTN6_uc011asj.1_Missense_Mutation_p.P288L|CNTN6_uc003bpa.2_Missense_Mutation_p.P360L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	360	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				lung(2)|breast(2)|pancreas(1)	5		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)						1038				0.159091	10.89724	15.7712	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1367631	1367631	3783	3	C	T	T	T	273	21	CNTN6	2	2
ESYT3	83850	broad.mit.edu	37	3	138188971	138188971	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138188971G>T	uc003esk.2	+	c.1573G>T	c.(1573-1575)GAG>TAG	p.E525*	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	525	C2 2.					integral to membrane|plasma membrane					0														0.15625	5.221974	8.900595	5	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	138188971	138188971	5459	3	G	T	T	T	585	45	ESYT3	5	2
WNT7A	7476	broad.mit.edu	37	3	13896294	13896294	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13896294C>G	uc003bye.1	-	c.305G>C	c.(304-306)CGG>CCG	p.R102P		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	102					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of JNK cascade|positive regulation of synaptogenesis|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)	2														0.179487	15.72991	19.476557	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13896294	13896294	17968	3	C	G	G	G	299	23	WNT7A	3	3
SPSB4	92369	broad.mit.edu	37	3	140785432	140785432	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140785432G>T	uc003ett.2	+	c.486G>T	c.(484-486)CCG>CCT	p.P162P	SPSB4_uc010hum.2_Silent_p.P162P	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	162	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0														0.375	8.427924	8.53569	3	5	KEEP	---	---	---	---	capture		Silent	SNP	140785432	140785432	15629	3	G	T	T	T	496	39	SPSB4	1	1
CPA3	1359	broad.mit.edu	37	3	148601591	148601591	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148601591C>T	uc003ewm.2	+	c.970C>T	c.(970-972)CAT>TAT	p.H324Y		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	324					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)											0.181818	18.514371	23.749503	10	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148601591	148601591	3929	3	C	T	T	T	273	21	CPA3	2	2
FGD5	152273	broad.mit.edu	37	3	14861776	14861776	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14861776C>G	uc003bzc.2	+	c.1198C>G	c.(1198-1200)CTA>GTA	p.L400V	FGD5_uc011avk.1_Missense_Mutation_p.L400V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	400					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.142857	5.48084	8.924041	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14861776	14861776	6073	3	C	G	G	G	311	24	FGD5	3	3
PPM1L	151742	broad.mit.edu	37	3	160474394	160474394	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160474394G>T	uc003fdr.2	+	c.298G>T	c.(298-300)GGC>TGC	p.G100C		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	100	Cytoplasmic (Potential).|PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			Pancreas(86;250 1994 13715 43211)								0.25	15.70974	17.302557	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160474394	160474394	12779	3	G	T	T	T	559	43	PPM1L	2	2
SI	6476	broad.mit.edu	37	3	164714404	164714404	+	Silent	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164714404T>C	uc003fei.2	-	c.4611A>G	c.(4609-4611)TCA>TCG	p.S1537S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1537	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)									0.089744	2.976472	16.220624	7	71	KEEP	---	---	---	---	capture		Silent	SNP	164714404	164714404	14792	3	T	C	C	C	704	55	SI	4	4
ZBBX	79740	broad.mit.edu	37	3	167086304	167086304	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167086304C>A	uc011bpc.1	-	c.127G>T	c.(127-129)GAG>TAG	p.E43*	ZBBX_uc003fep.2_Nonsense_Mutation_p.E43*|ZBBX_uc003feq.2_Nonsense_Mutation_p.E14*	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	43	Potential.					intracellular	zinc ion binding			ovary(2)	2														0.241379	33.140094	36.666465	14	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	167086304	167086304	18100	3	C	A	A	A	390	30	ZBBX	5	2
PLD1	5337	broad.mit.edu	37	3	171330158	171330158	+	Silent	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:171330158C>G	uc003fhs.2	-	c.2793G>C	c.(2791-2793)GTG>GTC	p.V931V	PLD1_uc003fht.2_Silent_p.V893V|PLD1_uc003fhu.3_Silent_p.V225V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	931					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)	2	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	NSCLC(149;2174 3517 34058)				595				0.171429	26.096138	33.209065	12	58	KEEP	---	---	---	---	capture		Silent	SNP	171330158	171330158	12471	3	C	G	G	G	314	25	PLD1	3	3
PLD1	5337	broad.mit.edu	37	3	171377053	171377053	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:171377053C>A	uc003fhs.2	-	c.2379G>T	c.(2377-2379)GTG>GTT	p.V793V	PLD1_uc003fht.2_Silent_p.V755V|PLD1_uc003fhu.3_Silent_p.V87V|PLD1_uc003fhv.1_Silent_p.V118V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	793	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)	2	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	NSCLC(149;2174 3517 34058)				595				0.168539	62.346135	80.863728	30	148	KEEP	---	---	---	---	capture		Silent	SNP	171377053	171377053	12471	3	C	A	A	A	210	17	PLD1	2	2
PEX5L	51555	broad.mit.edu	37	3	179605466	179605466	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179605466G>T	uc003fki.1	-	c.305C>A	c.(304-306)ACA>AAA	p.T102K	PEX5L_uc011bqd.1_Missense_Mutation_p.T59K|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.T59K|PEX5L_uc003fkj.1_Missense_Mutation_p.T67K|PEX5L_uc010hxd.1_Missense_Mutation_p.T100K|PEX5L_uc011bqg.1_Missense_Mutation_p.T78K|PEX5L_uc011bqh.1_Missense_Mutation_p.T43K	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	102					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)							648				0.212903	81.518467	93.302849	33	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179605466	179605466	12171	3	G	T	T	T	624	48	PEX5L	2	2
KLHL6	89857	broad.mit.edu	37	3	183217606	183217606	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183217606C>A	uc003flr.2	-	c.919G>T	c.(919-921)GAA>TAA	p.E307*	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	307										ovary(1)	1	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)											0.439024	55.35279	55.483817	18	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	183217606	183217606	8707	3	C	A	A	A	390	30	KLHL6	5	2
ECE2	9718	broad.mit.edu	37	3	184009934	184009935	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184009934_184009935GG>TT	uc003fni.3	+	c.2560_2561GG>TT	c.(2560-2562)GGC>TTC	p.G854F	ECE2_uc003fnl.3_Missense_Mutation_p.G782F|ECE2_uc003fnm.3_Missense_Mutation_p.G736F|ECE2_uc003fnk.3_Missense_Mutation_p.G707F	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	854	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)	2	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.09375	3.220061	13.821191	6	58	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	184009934	184009935	5077	3	GG	TT	TT	TT	559	43	ECE2	2	2
NGLY1	55768	broad.mit.edu	37	3	25781255	25781255	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25781255C>A	uc003cdl.2	-	c.694G>T	c.(694-696)GAG>TAG	p.E232*	NGLY1_uc010hfg.2_Nonsense_Mutation_p.E232*|NGLY1_uc003cdm.2_Nonsense_Mutation_p.E232*|NGLY1_uc011awo.1_Nonsense_Mutation_p.E190*|NGLY1_uc003cdk.2_Intron	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	232					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1														0.128205	5.859441	11.104684	5	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25781255	25781255	10798	3	C	A	A	A	390	30	NGLY1	5	2
GOLGA4	2803	broad.mit.edu	37	3	37365626	37365626	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37365626C>T	uc003cgw.2	+	c.2315C>T	c.(2314-2316)ACT>ATT	p.T772I	GOLGA4_uc010hgr.1_Missense_Mutation_p.T311I|GOLGA4_uc003cgv.2_Missense_Mutation_p.T750I|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.T631I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	750	Potential.|Glu-rich.				vesicle-mediated transport	Golgi membrane|trans-Golgi network				ovary(2)|breast(1)|central_nervous_system(1)	4														0.372093	48.491315	49.108375	16	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37365626	37365626	6824	3	C	T	T	T	260	20	GOLGA4	2	2
COL7A1	1294	broad.mit.edu	37	3	48621050	48621050	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48621050T>A	uc003ctz.2	-	c.4342_splice	c.e40-1	p.G1448_splice		NM_000094	NP_000085			alpha 1 type VII collagen precursor						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.105263	3.972694	9.857197	4	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	48621050	48621050	3842	3	T	A	A	A	715	55	COL7A1	5	3
COL7A1	1294	broad.mit.edu	37	3	48629256	48629256	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48629256C>A	uc003ctz.2	-	c.1358_splice	c.e11-1	p.G453_splice		NM_000094	NP_000085			alpha 1 type VII collagen precursor						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.21875	15.420985	17.744263	7	25	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	48629256	48629256	3842	3	C	A	A	A	312	24	COL7A1	5	2
CELSR3	1951	broad.mit.edu	37	3	48688359	48688359	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48688359A>T	uc003cuf.1	-	c.6546T>A	c.(6544-6546)AGT>AGA	p.S2182R	CELSR3_uc010hkg.2_Missense_Mutation_p.S90R|CELSR3_uc003cul.2_Missense_Mutation_p.S2112R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2112	Extracellular (Potential).|Laminin EGF-like.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.244444	25.302785	27.981899	11	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48688359	48688359	3356	3	A	T	T	T	128	10	CELSR3	3	3
KLHDC8B	200942	broad.mit.edu	37	3	49212227	49212227	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49212227G>C	uc003cwh.2	+	c.594G>C	c.(592-594)GAG>GAC	p.E198D	KLHDC8B_uc003cwi.1_Missense_Mutation_p.E71D	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	198	Kelch 5.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)										0.27907	29.677221	31.56836	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49212227	49212227	8675	3	G	C	C	C	451	35	KLHDC8B	3	3
BSN	8927	broad.mit.edu	37	3	49691858	49691858	+	Silent	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49691858A>T	uc003cxe.3	+	c.4869A>T	c.(4867-4869)GCA>GCT	p.A1623A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1623					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)										0.380952	24.498728	24.758356	8	13	KEEP	---	---	---	---	capture		Silent	SNP	49691858	49691858	1561	3	A	T	T	T	80	7	BSN	3	3
RBM5	10181	broad.mit.edu	37	3	50153390	50153390	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50153390G>C	uc003cyg.2	+	c.2071G>C	c.(2071-2073)GCC>CCC	p.A691P	RBM5_uc011bdj.1_Missense_Mutation_p.A635P|RBM5_uc011bdk.1_Missense_Mutation_p.A519P|RBM5_uc003cyh.2_Missense_Mutation_p.A148P	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	691	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.181818	23.619471	28.848438	10	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50153390	50153390	13605	3	G	C	C	C	442	34	RBM5	3	3
BHLHE40	8553	broad.mit.edu	37	3	5025131	5025131	+	Silent	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:5025131A>T	uc003bqf.2	+	c.993A>T	c.(991-993)TCA>TCT	p.S331S	BHLHE40_uc011asw.1_Silent_p.S191S	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	331						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.205882	31.012376	36.474569	14	54	KEEP	---	---	---	---	capture		Silent	SNP	5025131	5025131	1448	3	A	T	T	T	80	7	BHLHE40	3	3
RBM15B	29890	broad.mit.edu	37	3	51431139	51431139	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51431139G>C	uc003dbd.2	+	c.2309G>C	c.(2308-2310)CGA>CCA	p.R770P		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	770	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)										0.137255	10.453618	17.054081	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51431139	51431139	13578	3	G	C	C	C	481	37	RBM15B	3	3
MAGI1	9223	broad.mit.edu	37	3	66023765	66023765	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:66023765C>A	uc003dmn.2	-	c.219G>T	c.(217-219)GTG>GTT	p.V73V	MAGI1_uc003dmm.2_Silent_p.V73V|MAGI1_uc003dmo.2_Silent_p.V73V|MAGI1_uc003dmp.2_Silent_p.V73V|MAGI1_uc003dmr.2_Silent_p.V73V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	73	PDZ 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			kidney(1)|pancreas(1)	2		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)										0.260274	46.800796	50.593217	19	54	KEEP	---	---	---	---	capture		Silent	SNP	66023765	66023765	9573	3	C	A	A	A	314	25	MAGI1	2	2
SHQ1	55164	broad.mit.edu	37	3	72799761	72799761	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:72799761C>G	uc003dpf.2	-	c.1408G>C	c.(1408-1410)GAC>CAC	p.D470H	SHQ1_uc010hod.2_Missense_Mutation_p.D381H	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	470	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)										0.238095	27.361333	29.970496	10	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72799761	72799761	14787	3	C	G	G	G	416	32	SHQ1	3	3
PDZRN3	23024	broad.mit.edu	37	3	73432630	73432631	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73432630_73432631CC>AG	uc003dpl.1	-	c.3086_3087GG>CT	c.(3085-3087)AGG>ACT	p.R1029T	PDZRN3_uc011bgh.1_Missense_Mutation_p.R686T|PDZRN3_uc010hoe.1_Missense_Mutation_p.R727T|PDZRN3_uc011bgf.1_Missense_Mutation_p.R746T|PDZRN3_uc011bgg.1_Missense_Mutation_p.R749T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1029							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|pancreas(2)|large_intestine(1)	5		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)										0.067873	-12.313543	30.290806	15	206	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	73432630	73432631	12130	3	CC	AG	AG	AG	389	30	PDZRN3	2	2
EPHA6	285220	broad.mit.edu	37	3	96706829	96706829	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:96706829C>A	uc010how.1	+	c.1106C>A	c.(1105-1107)TCT>TAT	p.S369Y	EPHA6_uc003drp.1_Missense_Mutation_p.S369Y	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	274	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.192982	22.013638	27.01926	11	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96706829	96706829	5364	3	C	A	A	A	416	32	EPHA6	2	2
EPHA6	285220	broad.mit.edu	37	3	97329697	97329697	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97329697G>T	uc010how.1	+	c.2573G>T	c.(2572-2574)CGG>CTG	p.R858L	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.R224L|EPHA6_uc003drs.3_Missense_Mutation_p.R250L|EPHA6_uc003drr.3_Missense_Mutation_p.R250L|EPHA6_uc003drt.2_Missense_Mutation_p.R250L|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	763	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.361111	39.864488	40.476033	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97329697	97329697	5364	3	G	T	T	T	507	39	EPHA6	1	1
ADH1B	125	broad.mit.edu	37	4	100239212	100239212	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100239212C>A	uc003hus.3	-	c.250G>T	c.(250-252)GTC>TTC	p.V84F	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.V44F|ADH1B_uc011ceh.1_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.V44F	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	84					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)									0.21118	75.856618	88.285619	34	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100239212	100239212	309	4	C	A	A	A	260	20	ADH1B	2	2
ADH7	131	broad.mit.edu	37	4	100349720	100349720	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100349720G>T	uc003huv.1	-	c.224C>A	c.(223-225)CCA>CAA	p.P75Q		NM_000673	NP_000664	P40394	ADH7_HUMAN	class IV alcohol dehydrogenase, mu or sigma	75					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)	2				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)									0.206612	59.411486	69.062005	25	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100349720	100349720	314	4	G	T	T	T	611	47	ADH7	2	2
LEF1	51176	broad.mit.edu	37	4	108991841	108991841	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:108991841C>A	uc003hyt.1	-	c.1094G>T	c.(1093-1095)GGC>GTC	p.G365V	LEF1_uc011cfj.1_Missense_Mutation_p.G222V|LEF1_uc011cfk.1_Missense_Mutation_p.G269V|LEF1_uc003hyu.1_Missense_Mutation_p.G337V|LEF1_uc003hyv.1_Missense_Mutation_p.G337V|LEF1_uc010imb.1_Non-coding_Transcript|LEF1_uc003hys.1_Non-coding_Transcript|LEF1_uc010ima.1_Missense_Mutation_p.G53V|LEF1_uc003hyw.1_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	365	HMG box.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of caspase activity|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of gene-specific transcription|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|promoter binding|transcription activator activity|transcription repressor activity			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)										0.266667	57.260059	61.695527	24	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108991841	108991841	9038	4	C	A	A	A	338	26	LEF1	2	2
NDST4	64579	broad.mit.edu	37	4	115997901	115997901	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115997901T>C	uc003ibu.2	-	c.292A>G	c.(292-294)ATT>GTT	p.I98V	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	98	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.126761	11.540218	21.190849	9	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115997901	115997901	10657	4	T	C	C	C	637	49	NDST4	4	4
PDE5A	8654	broad.mit.edu	37	4	120419774	120419774	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:120419774G>T	uc003idh.2	-	c.2610C>A	c.(2608-2610)GGC>GGA	p.G870G	PDE5A_uc003idf.2_Silent_p.G828G|PDE5A_uc003idg.2_Silent_p.G818G	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	870					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)									0.243243	36.976072	41.463399	18	56	KEEP	---	---	---	---	capture		Silent	SNP	120419774	120419774	12065	4	G	T	T	T	535	42	PDE5A	2	2
SCLT1	132320	broad.mit.edu	37	4	129809853	129809853	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:129809853G>A	uc003igp.2	-	c.1985C>T	c.(1984-1986)GCT>GTT	p.A662V	SCLT1_uc003ign.2_Missense_Mutation_p.A326V|SCLT1_uc003igo.2_Missense_Mutation_p.A272V|SCLT1_uc003igq.2_Missense_Mutation_p.A281V|SCLT1_uc010iob.1_Missense_Mutation_p.A149V	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	662	Potential.					cytoplasm				ovary(3)|central_nervous_system(1)	4														0.137931	19.275963	30.279598	12	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129809853	129809853	14388	4	G	A	A	A	442	34	SCLT1	2	2
ZNF827	152485	broad.mit.edu	37	4	146807039	146807039	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146807039C>A	uc003ikn.2	-	c.1538G>T	c.(1537-1539)GGA>GTA	p.G513V	ZNF827_uc003ikm.2_Missense_Mutation_p.G513V|ZNF827_uc010iox.2_Missense_Mutation_p.G163V	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)													0.178571	16.807608	22.268946	10	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146807039	146807039	18779	4	C	A	A	A	390	30	ZNF827	2	2
MAB21L2	10586	broad.mit.edu	37	4	151505111	151505111	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151505111C>A	uc003ilw.2	+	c.930C>A	c.(928-930)TGC>TGA	p.C310*	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	310					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)										0.142857	6.082627	9.52342	4	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151505111	151505111	9519	4	C	A	A	A	337	26	MAB21L2	5	2
TRIM2	23321	broad.mit.edu	37	4	154249741	154249741	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154249741G>A	uc003inh.2	+	c.2082G>A	c.(2080-2082)GGG>GGA	p.G694G	TRIM2_uc003ing.2_Silent_p.G667G	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 1	667	NHL 5.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)										0.171429	11.935401	15.501842	6	29	KEEP	---	---	---	---	capture		Silent	SNP	154249741	154249741	17038	4	G	A	A	A	535	42	TRIM2	2	2
DCHS2	54798	broad.mit.edu	37	4	155156668	155156668	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155156668C>T	uc003inw.2	-	c.7771G>A	c.(7771-7773)GCC>ACC	p.A2591T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2591					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.175	25.214318	33.17727	14	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155156668	155156668	4459	4	C	T	T	T	325	25	DCHS2	2	2
WDR17	116966	broad.mit.edu	37	4	177095826	177095826	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177095826A>G	uc003iuj.2	+	c.3523A>G	c.(3523-3525)AGA>GGA	p.R1175G	WDR17_uc003iuk.2_Missense_Mutation_p.R1151G|WDR17_uc003ium.3_Missense_Mutation_p.R1136G|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.R386G	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1175										ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)										0.103448	8.004888	17.086518	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177095826	177095826	17850	4	A	G	G	G	36	3	WDR17	4	4
SORBS2	8470	broad.mit.edu	37	4	186544296	186544296	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:186544296G>A	uc003iyg.2	-	c.2617C>T	c.(2617-2619)CGC>TGC	p.R873C	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iyl.2_Missense_Mutation_p.R759C|SORBS2_uc003iym.2_Missense_Mutation_p.R859C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.R663C|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	759						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		Esophageal Squamous(153;41 2433 9491 36028)								0.123377	26.786845	48.098271	19	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186544296	186544296	15428	4	G	A	A	A	507	39	SORBS2	1	1
ZFP42	132625	broad.mit.edu	37	4	188924555	188924555	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:188924555G>T	uc003izg.1	+	c.594G>T	c.(592-594)AAG>AAT	p.K198N	ZFP42_uc003izh.1_Missense_Mutation_p.K198N|ZFP42_uc003izi.1_Missense_Mutation_p.K198N	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	198	C2H2-type 1.				female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)										0.16	21.350105	29.609335	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188924555	188924555	18238	4	G	T	T	T	464	36	ZFP42	2	2
TLR10	81793	broad.mit.edu	37	4	38776878	38776878	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38776878T>A	uc003gti.2	-	c.334A>T	c.(334-336)ACT>TCT	p.T112S	TLR10_uc003gtj.2_Missense_Mutation_p.T112S|TLR10_uc003gtk.2_Missense_Mutation_p.T112S	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	112	LRR 4.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.209677	28.846783	33.679255	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38776878	38776878	16480	4	T	A	A	A	780	60	TLR10	3	3
PDS5A	23244	broad.mit.edu	37	4	39839704	39839704	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39839704C>A	uc003guv.3	-	c.3782G>T	c.(3781-3783)GGA>GTA	p.G1261V	PDS5A_uc010ifo.2_Missense_Mutation_p.G1221V	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1261					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0														0.294118	10.459659	11.110802	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39839704	39839704	12112	4	C	A	A	A	390	30	PDS5A	2	2
GABRG1	2565	broad.mit.edu	37	4	46060519	46060519	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46060519A>G	uc003gxb.2	-	c.746T>C	c.(745-747)ATC>ACC	p.I249T		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	249	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)										0.137931	16.162834	23.513227	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46060519	46060519	6422	4	A	G	G	G	156	12	GABRG1	4	4
GABRA4	2557	broad.mit.edu	37	4	46930369	46930369	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46930369G>T	uc003gxg.2	-	c.1538C>A	c.(1537-1539)TCT>TAT	p.S513Y		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	513	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.15625	25.25924	36.09363	15	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46930369	46930369	6414	4	G	T	T	T	429	33	GABRA4	2	2
CORIN	10699	broad.mit.edu	37	4	47663870	47663870	+	Silent	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47663870T>A	uc003gxm.2	-	c.1593A>T	c.(1591-1593)GCA>GCT	p.A531A	CORIN_uc011bzf.1_Silent_p.A392A|CORIN_uc011bzg.1_Silent_p.A464A|CORIN_uc011bzh.1_Silent_p.A494A|CORIN_uc011bzi.1_Silent_p.A494A	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	531	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)	1														0.288889	37.752814	39.553622	13	32	KEEP	---	---	---	---	capture		Silent	SNP	47663870	47663870	3890	4	T	A	A	A	652	51	CORIN	3	3
KIAA1211	57482	broad.mit.edu	37	4	57180410	57180410	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57180410C>A	uc003hbk.2	+	c.742C>A	c.(742-744)CTA>ATA	p.L248I	KIAA1211_uc010iha.2_Missense_Mutation_p.L241I|KIAA1211_uc011bzz.1_Missense_Mutation_p.L158I|KIAA1211_uc003hbm.1_Missense_Mutation_p.L134I	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	248	Glu-rich.									ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.666667	6.506182	6.530287	2	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57180410	57180410	8523	4	C	A	A	A	311	24	KIAA1211	2	2
POLR2B	5431	broad.mit.edu	37	4	57856922	57856922	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57856922T>G	uc003hcl.1	+	c.101T>G	c.(100-102)TTT>TGT	p.F34C	POLR2B_uc011cae.1_Missense_Mutation_p.F27C|POLR2B_uc011caf.1_Intron	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	34					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)													0.070866	-4.505627	19.599339	9	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57856922	57856922	12643	4	T	G	G	G	832	64	POLR2B	4	4
LPHN3	23284	broad.mit.edu	37	4	62812713	62812713	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62812713C>T	uc010ihh.2	+	c.2297C>T	c.(2296-2298)ACG>ATG	p.T766M	LPHN3_uc003hcq.3_Missense_Mutation_p.T766M|LPHN3_uc003hct.2_Missense_Mutation_p.T159M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	753	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.093525	4.337992	27.46008	13	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62812713	62812713	9290	4	C	T	T	T	247	19	LPHN3	1	1
EPHA5	2044	broad.mit.edu	37	4	66356306	66356306	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66356306C>G	uc011cah.1	-	c.1191G>C	c.(1189-1191)AAG>AAC	p.K397N	EPHA5_uc003hcx.2_Missense_Mutation_p.K328N|EPHA5_uc003hcy.2_Missense_Mutation_p.K397N|EPHA5_uc003hcz.2_Missense_Mutation_p.K397N|EPHA5_uc011cai.1_Missense_Mutation_p.K397N|EPHA5_uc003hda.2_Missense_Mutation_p.K397N	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	397	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.235294	21.582846	23.761413	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66356306	66356306	5363	4	C	G	G	G	259	20	EPHA5	3	3
EPHA5	2044	broad.mit.edu	37	4	66509116	66509116	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66509116C>T	uc011cah.1	-	c.211G>A	c.(211-213)GGG>AGG	p.G71R	EPHA5_uc003hcx.2_Missense_Mutation_p.G2R|EPHA5_uc003hcy.2_Missense_Mutation_p.G71R|EPHA5_uc003hcz.2_Missense_Mutation_p.G71R|EPHA5_uc011cai.1_Missense_Mutation_p.G71R|EPHA5_uc003hda.2_Missense_Mutation_p.G71R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	71	Extracellular (Potential).				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.15	11.86914	16.529184	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66509116	66509116	5363	4	C	T	T	T	286	22	EPHA5	2	2
YTHDC1	91746	broad.mit.edu	37	4	69179973	69179973	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69179973A>T	uc003hdx.2	-	c.2028T>A	c.(2026-2028)AGT>AGA	p.S676R	YTHDC1_uc003hdy.2_Missense_Mutation_p.S658R	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	676	Arg-rich.									ovary(1)	1														0.1875	6.117393	7.579296	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69179973	69179973	18079	4	A	T	T	T	180	14	YTHDC1	3	3
UGT2B11	10720	broad.mit.edu	37	4	70079862	70079862	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70079862G>T	uc003heh.2	-	c.579C>A	c.(577-579)TAC>TAA	p.Y193*		NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	193					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.292308	51.540547	54.09345	19	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70079862	70079862	17515	4	G	T	T	T	620	48	UGT2B11	5	2
SULT1E1	6783	broad.mit.edu	37	4	70723311	70723311	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70723311G>T	uc003heo.2	-	c.52C>A	c.(52-54)CTA>ATA	p.L18I	SULT1E1_uc010ihv.1_Missense_Mutation_p.L18I	NM_005420	NP_005411	P49888	ST1E1_HUMAN	estrogen sulfotransferase	18					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			ovary(1)	1														0.253968	39.387839	42.837797	16	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70723311	70723311	15900	4	G	T	T	T	425	33	SULT1E1	2	2
MUC7	4589	broad.mit.edu	37	4	71346709	71346709	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71346709A>G	uc011cat.1	+	c.248A>G	c.(247-249)AAA>AGA	p.K83R	MUC7_uc011cau.1_Missense_Mutation_p.K83R|MUC7_uc003hfj.2_Missense_Mutation_p.K83R	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	83						extracellular region	protein binding			ovary(2)|central_nervous_system(1)	3			Lung(101;0.211)											0.08	-0.240296	8.760056	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71346709	71346709	10375	4	A	G	G	G	13	1	MUC7	4	4
MOBKL1A	92597	broad.mit.edu	37	4	71840984	71840984	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71840984G>T	uc011cba.1	+	c.405G>T	c.(403-405)ACG>ACT	p.T135T	MOBKL1A_uc003hfv.1_Silent_p.T130T|MOBKL1A_uc003hfw.2_Silent_p.T130T	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	130					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)	Lung(101;0.235)											0.098592	7.184292	18.61568	7	64	KEEP	---	---	---	---	capture		Silent	SNP	71840984	71840984	10073	4	G	T	T	T	509	40	MOBKL1A	1	1
NPFFR2	10886	broad.mit.edu	37	4	73013266	73013266	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73013266G>A	uc003hgg.2	+	c.1306G>A	c.(1306-1308)GGT>AGT	p.G436S	NPFFR2_uc010iig.1_Missense_Mutation_p.G218S|NPFFR2_uc003hgi.2_Missense_Mutation_p.G337S|NPFFR2_uc003hgh.2_Missense_Mutation_p.G334S|NPFFR2_uc003hgj.2_Non-coding_Transcript	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	436	Cytoplasmic (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)											0.235294	37.364904	41.724653	16	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73013266	73013266	10982	4	G	A	A	A	611	47	NPFFR2	2	2
CDKL2	8999	broad.mit.edu	37	4	76523301	76523301	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76523301T>C	uc011cbp.1	-	c.980A>G	c.(979-981)GAT>GGT	p.D327G	CDKL2_uc003hiq.2_Missense_Mutation_p.D327G|CDKL2_uc010iix.1_Non-coding_Transcript	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	327					protein phosphorylation|sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|breast(2)	4			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)							284				0.095238	3.372987	10.27429	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76523301	76523301	3283	4	T	C	C	C	650	50	CDKL2	4	4
HERC3	8916	broad.mit.edu	37	4	89608371	89608371	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89608371T>A	uc003hrw.1	+	c.2578T>A	c.(2578-2580)TGC>AGC	p.C860S	HERC3_uc011cdn.1_Missense_Mutation_p.C742S|HERC3_uc011cdo.1_Missense_Mutation_p.C304S	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	860					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000319)										0.12766	9.319248	15.669234	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89608371	89608371	7342	4	T	A	A	A	715	55	HERC3	3	3
ATOH1	474	broad.mit.edu	37	4	94751134	94751134	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94751134G>A	uc003hta.1	+	c.1057G>A	c.(1057-1059)GCA>ACA	p.A353T		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	353					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)										0.19697	27.042125	32.684937	13	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94751134	94751134	1131	4	G	A	A	A	546	42	ATOH1	2	2
SLC12A2	6558	broad.mit.edu	37	5	127466874	127466874	+	Silent	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127466874A>T	uc003kus.2	+	c.1164A>T	c.(1162-1164)GCA>GCT	p.A388A	SLC12A2_uc010jdf.2_Non-coding_Transcript|SLC12A2_uc010jdg.2_Silent_p.A388A	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	388	Extracellular (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(2)	2		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.204545	43.102232	50.228916	18	70	KEEP	---	---	---	---	capture		Silent	SNP	127466874	127466874	14878	5	A	T	T	T	80	7	SLC12A2	3	3
FBN2	2201	broad.mit.edu	37	5	127645078	127645078	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127645078G>T	uc003kuu.2	-	c.5214C>A	c.(5212-5214)AGC>AGA	p.S1738R		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1738	TB 7.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.325	37.763687	38.849417	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127645078	127645078	5939	5	G	T	T	T	438	34	FBN2	2	2
CAMLG	819	broad.mit.edu	37	5	134077087	134077087	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134077087G>T	uc003kzt.2	+	c.507G>T	c.(505-507)CTG>CTT	p.L169L	CAMLG_uc003kzu.2_Intron	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand	169	Cytoplasmic (Potential).				defense response	endoplasmic reticulum|integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)									0.318182	55.613167	57.574947	21	45	KEEP	---	---	---	---	capture		Silent	SNP	134077087	134077087	2726	5	G	T	T	T	574	45	CAMLG	2	2
PSD2	84249	broad.mit.edu	37	5	139201498	139201498	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139201498C>A	uc003leu.1	+	c.1118C>A	c.(1117-1119)CCG>CAG	p.P373Q		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	373	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.462687	98.721701	98.802496	31	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139201498	139201498	13100	5	C	A	A	A	299	23	PSD2	1	1
PCDHA6	56142	broad.mit.edu	37	5	140209440	140209440	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140209440C>A	uc003lho.2	+	c.1764C>A	c.(1762-1764)GGC>GGA	p.G588G	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_uc011dab.1_Silent_p.G588G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	588	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.288136	42.988743	45.341753	17	42	KEEP	---	---	---	---	capture		Silent	SNP	140209440	140209440	11948	5	C	A	A	A	327	26	PCDHA6	2	2
PCDHA8	56140	broad.mit.edu	37	5	140221019	140221019	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140221019A>T	uc003lhs.2	+	c.113A>T	c.(112-114)GAG>GTG	p.E38V	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_uc003lhr.1_Missense_Mutation_p.E38V	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	38	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.39726	73.904305	74.592849	29	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140221019	140221019	11950	5	A	T	T	T	143	11	PCDHA8	3	3
PCDHAC1	56135	broad.mit.edu	37	5	140307607	140307607	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140307607G>T	uc003lih.2	+	c.1130G>T	c.(1129-1131)TGT>TTT	p.C377F	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_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.C377F	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	377	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.125	6.179623	10.573814	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140307607	140307607	11952	5	G	T	T	T	624	48	PCDHAC1	2	2
PCDHGB4	8641	broad.mit.edu	37	5	140768680	140768680	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140768680G>T	uc003lkc.1	+	c.1229G>T	c.(1228-1230)CGC>CTC	p.R410L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R410L	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	410	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)											0.134021	20.941438	33.519722	13	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140768680	140768680	11985	5	G	T	T	T	494	38	PCDHGB4	1	1
PCDHGA9	56107	broad.mit.edu	37	5	140784118	140784118	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140784118G>A	uc003lkh.1	+	c.1599G>A	c.(1597-1599)ACG>ACA	p.T533T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.T533T	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	533	Extracellular (Potential).|Cadherin 5.				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)											0.547619	72.632525	72.716985	23	19	KEEP	---	---	---	---	capture		Silent	SNP	140784118	140784118	11981	5	G	A	A	A	496	39	PCDHGA9	1	1
SH3TC2	79628	broad.mit.edu	37	5	148406797	148406797	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148406797G>T	uc003lpu.2	-	c.2498C>A	c.(2497-2499)ACT>AAT	p.T833N	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.2_Missense_Mutation_p.T477N|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_Missense_Mutation_p.T380N|SH3TC2_uc010jgx.2_Missense_Mutation_p.T826N|SH3TC2_uc003lpv.1_Missense_Mutation_p.T380N|SH3TC2_uc011dbz.1_Missense_Mutation_p.T718N	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	833							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.374269	191.585347	193.947617	64	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148406797	148406797	14754	5	G	T	T	T	468	36	SH3TC2	2	2
SH3TC2	79628	broad.mit.edu	37	5	148407947	148407947	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148407947G>A	uc003lpu.2	-	c.1348C>T	c.(1348-1350)CCG>TCG	p.P450S	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.2_Missense_Mutation_p.P94S|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.P443S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.P335S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	450							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.413793	73.698397	74.0719	24	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148407947	148407947	14754	5	G	A	A	A	559	43	SH3TC2	2	2
SH3TC2	79628	broad.mit.edu	37	5	148422262	148422262	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148422262T>A	uc003lpu.2	-	c.524A>T	c.(523-525)CAG>CTG	p.Q175L	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.2_5'Flank|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.Q168L|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.Q60L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	175							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.417722	106.266226	106.731768	33	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148422262	148422262	14754	5	T	A	A	A	715	55	SH3TC2	3	3
FAM114A2	10827	broad.mit.edu	37	5	153413357	153413357	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153413357C>T	uc003lvb.2	-	c.397G>A	c.(397-399)GTA>ATA	p.V133I	FAM114A2_uc003lvc.2_Missense_Mutation_p.V133I|FAM114A2_uc003lvd.2_Missense_Mutation_p.V133I|FAM114A2_uc003lve.2_5'UTR|FAM114A2_uc011dda.1_Missense_Mutation_p.V63I	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	133							purine nucleotide binding				0														0.4375	43.245345	43.354343	14	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153413357	153413357	5601	5	C	T	T	T	221	17	FAM114A2	2	2
FAM134B	54463	broad.mit.edu	37	5	16565890	16565890	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16565890C>A	uc003jfs.2	-	c.440G>T	c.(439-441)TGG>TTG	p.W147L		NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	147					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3														0.363636	21.892027	22.25267	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16565890	16565890	5643	5	C	A	A	A	273	21	FAM134B	2	2
NKX2-5	1482	broad.mit.edu	37	5	172659600	172659600	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:172659600G>T	uc003mcm.1	-	c.947C>A	c.(946-948)TCC>TAC	p.S316Y		NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	316					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of myotube differentiation|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|septum secundum development|spleen development|thyroid gland development|tongue development|vasculogenesis|ventricular septum morphogenesis	transcription factor complex	chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription activator activity|transcription factor binding|transcription repressor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			Esophageal Squamous(72;810 1219 2387 13420 44943)								0.148148	5.911358	9.097644	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172659600	172659600	10855	5	G	T	T	T	533	41	NKX2-5	2	2
RNF130	55819	broad.mit.edu	37	5	179397486	179397486	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179397486C>A	uc003mll.1	-	c.869G>T	c.(868-870)TGC>TTC	p.C290F	RNF130_uc003mlm.1_Missense_Mutation_p.C290F	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	ring finger protein 130 precursor	290	Cytoplasmic (Potential).|RING-type.				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			lung(2)|ovary(1)	3	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GBM(24;432 554 38471 39699 51728)				168				0.185185	11.257808	13.767495	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179397486	179397486	13915	5	C	A	A	A	325	25	RNF130	2	2
CDH12	1010	broad.mit.edu	37	5	21752203	21752203	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21752203C>A	uc010iuc.2	-	c.2028G>T	c.(2026-2028)GGG>GGT	p.G676G	CDH12_uc011cno.1_Silent_p.G636G|CDH12_uc003jgk.2_Silent_p.G676G	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	676	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.147727	17.833419	28.3169	13	75	KEEP	---	---	---	---	capture		Silent	SNP	21752203	21752203	3227	5	C	A	A	A	275	22	CDH12	2	2
CDH12	1010	broad.mit.edu	37	5	21752206	21752206	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21752206G>C	uc010iuc.2	-	c.2025C>G	c.(2023-2025)ATC>ATG	p.I675M	CDH12_uc011cno.1_Missense_Mutation_p.I635M|CDH12_uc003jgk.2_Missense_Mutation_p.I675M	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	675	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.147368	25.851064	37.153731	14	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21752206	21752206	3227	5	G	C	C	C	473	37	CDH12	3	3
CDH10	1008	broad.mit.edu	37	5	24488151	24488151	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24488151C>A	uc003jgr.1	-	c.1988G>T	c.(1987-1989)GGA>GTA	p.G663V	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	663	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.125	9.385865	23.730859	13	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24488151	24488151	3225	5	C	A	A	A	390	30	CDH10	2	2
CDH6	1004	broad.mit.edu	37	5	31294306	31294306	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31294306G>T	uc003jhe.1	+	c.466G>T	c.(466-468)GAA>TAA	p.E156*	CDH6_uc003jhd.1_Nonsense_Mutation_p.E156*	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	156	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.082524	-0.412648	36.080276	17	189	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31294306	31294306	3243	5	G	T	T	T	585	45	CDH6	5	2
ADAMTS12	81792	broad.mit.edu	37	5	33576789	33576789	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33576789G>T	uc003jia.1	-	c.3342C>A	c.(3340-3342)ACC>ACA	p.T1114T	ADAMTS12_uc010iuq.1_Silent_p.T1029T	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1114	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.2125	35.674203	41.759659	17	63	KEEP	---	---	---	---	capture		Silent	SNP	33576789	33576789	258	5	G	T	T	T	444	35	ADAMTS12	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33881337	33881337	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33881337G>A	uc003jia.1	-	c.376C>T	c.(376-378)CTC>TTC	p.L126F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.L126F|ADAMTS12_uc003jib.1_Missense_Mutation_p.L126F	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	126					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.473118	142.604609	142.66188	44	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33881337	33881337	258	5	G	A	A	A	455	35	ADAMTS12	2	2
SLC1A3	6507	broad.mit.edu	37	5	36671316	36671316	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36671316G>A	uc003jkj.3	+	c.505G>A	c.(505-507)GCC>ACC	p.A169T	SLC1A3_uc011cox.1_Missense_Mutation_p.A62T|SLC1A3_uc010iuy.2_Missense_Mutation_p.A169T	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	169	Extracellular (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)									0.357143	22.419958	22.93226	10	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36671316	36671316	14929	5	G	A	A	A	598	46	SLC1A3	2	2
CARD6	84674	broad.mit.edu	37	5	40852903	40852903	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40852903A>T	uc003jmg.2	+	c.1469A>T	c.(1468-1470)GAT>GTT	p.D490V		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	490					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.316832	85.487395	88.489079	32	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40852903	40852903	2769	5	A	T	T	T	156	12	CARD6	3	3
HEATR7B2	133558	broad.mit.edu	37	5	41064640	41064640	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41064640G>T	uc003jmj.3	-	c.394C>A	c.(394-396)CTG>ATG	p.L132M		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	132							binding			ovary(6)|central_nervous_system(2)	8														0.205882	15.704513	18.432896	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41064640	41064640	7318	5	G	T	T	T	451	35	HEATR7B2	2	2
FST	10468	broad.mit.edu	37	5	52779975	52779975	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52779975C>T	uc003jpd.2	+	c.573C>T	c.(571-573)ACC>ACT	p.T191T	FST_uc003jpc.2_Silent_p.T191T	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	191	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)												0.0625	-3.674873	12.266722	5	75	KEEP	---	---	---	---	capture		Silent	SNP	52779975	52779975	6327	5	C	T	T	T	301	24	FST	2	2
KIAA0947	23379	broad.mit.edu	37	5	5447972	5447972	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5447972C>A	uc003jdm.3	+	c.566C>A	c.(565-567)ACA>AAA	p.T189K		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	189										ovary(1)|central_nervous_system(1)	2														0.5	12.999918	12.999918	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5447972	5447972	8509	5	C	A	A	A	221	17	KIAA0947	2	2
CWC27	10283	broad.mit.edu	37	5	64084801	64084801	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64084801G>T	uc003jtn.1	+	c.623G>T	c.(622-624)GGA>GTA	p.G208V	CWC27_uc003jtl.2_Missense_Mutation_p.G208V|CWC27_uc003jtm.2_Missense_Mutation_p.G208V|CWC27_uc010iwt.1_Missense_Mutation_p.G208V	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	208	Potential.				nuclear mRNA splicing, via spliceosome|protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0														0.2	22.946047	27.511949	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64084801	64084801	4230	5	G	T	T	T	533	41	CWC27	2	2
NSUN2	54888	broad.mit.edu	37	5	6600335	6600335	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:6600335C>A	uc003jdu.2	-	c.2008G>T	c.(2008-2010)GCT>TCT	p.A670S	NSUN2_uc003jds.2_Missense_Mutation_p.A116S|NSUN2_uc003jdt.2_Missense_Mutation_p.A434S|NSUN2_uc011cmk.1_Missense_Mutation_p.A635S|NSUN2_uc003jdv.2_Missense_Mutation_p.A434S	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	670						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.230769	16.051906	17.76814	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6600335	6600335	11083	5	C	A	A	A	351	27	NSUN2	1	1
MAP1B	4131	broad.mit.edu	37	5	71494207	71494207	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71494207C>A	uc003kbw.3	+	c.5025C>A	c.(5023-5025)GGC>GGA	p.G1675G	MAP1B_uc010iyw.1_Silent_p.G1692G|MAP1B_uc010iyx.1_Silent_p.G1549G|MAP1B_uc010iyy.1_Silent_p.G1549G	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1675						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		Melanoma(17;367 822 11631 31730 47712)								0.463415	60.522671	60.570083	19	22	KEEP	---	---	---	---	capture		Silent	SNP	71494207	71494207	9611	5	C	A	A	A	340	27	MAP1B	1	1
IQGAP2	10788	broad.mit.edu	37	5	75998366	75998366	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75998366G>C	uc003kek.2	+	c.4565G>C	c.(4564-4566)AGA>ACA	p.R1522T	IQGAP2_uc011csv.1_Missense_Mutation_p.R1018T|IQGAP2_uc003kel.2_Missense_Mutation_p.R1018T	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1522					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)										0.097561	3.976528	10.618459	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75998366	75998366	8118	5	G	C	C	C	429	33	IQGAP2	3	3
PRDM13	59336	broad.mit.edu	37	6	100056667	100056667	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100056667G>T	uc003pqg.1	+	c.195G>T	c.(193-195)CTG>CTT	p.L65L		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	65	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)										0.192308	11.260465	13.558703	5	21	KEEP	---	---	---	---	capture		Silent	SNP	100056667	100056667	12896	6	G	T	T	T	600	47	PRDM13	2	2
TRDN	10345	broad.mit.edu	37	6	123709674	123709674	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123709674C>G	uc003pzj.1	-	c.1128G>C	c.(1126-1128)AAG>AAC	p.K376N	TRDN_uc003pzk.1_Missense_Mutation_p.K377N|TRDN_uc003pzl.1_Missense_Mutation_p.K377N|TRDN_uc010kem.1_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	376	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)										0.285714	6.347104	6.635516	2	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123709674	123709674	17012	6	C	G	G	G	415	32	TRDN	3	3
TMEM200A	114801	broad.mit.edu	37	6	130762738	130762738	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130762738C>A	uc003qca.2	+	c.1171C>A	c.(1171-1173)CTC>ATC	p.L391I	TMEM200A_uc010kfh.2_Missense_Mutation_p.L391I|TMEM200A_uc010kfi.2_Missense_Mutation_p.L391I|TMEM200A_uc003qcb.2_Missense_Mutation_p.L391I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	391	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)						66				0.267857	33.220184	36.014557	15	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130762738	130762738	16658	6	C	A	A	A	364	28	TMEM200A	2	2
BCLAF1	9774	broad.mit.edu	37	6	136599731	136599731	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136599731G>T	uc003qgx.1	-	c.288C>A	c.(286-288)GTC>GTA	p.V96V	BCLAF1_uc003qgw.1_Silent_p.V96V|BCLAF1_uc003qgy.1_Silent_p.V94V|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.V94V	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	96					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)								0.090909	2.76084	21.328871	10	100	KEEP	---	---	---	---	capture		Silent	SNP	136599731	136599731	1404	6	G	T	T	T	418	33	BCLAF1	2	2
TIAM2	26230	broad.mit.edu	37	6	155569292	155569292	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155569292G>C	uc003qqb.2	+	c.3811G>C	c.(3811-3813)GAG>CAG	p.E1271Q	TIAM2_uc003qqe.2_Missense_Mutation_p.E1271Q|TIAM2_uc010kjj.2_Missense_Mutation_p.E804Q|TIAM2_uc003qqf.2_Missense_Mutation_p.E647Q|TIAM2_uc011efl.1_Missense_Mutation_p.E607Q|TIAM2_uc003qqg.2_Missense_Mutation_p.E583Q|TIAM2_uc003qqh.2_Missense_Mutation_p.E196Q	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1271	DH.				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)								OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.208333	11.06113	12.952727	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155569292	155569292	16419	6	G	C	C	C	481	37	TIAM2	3	3
SLC22A2	6582	broad.mit.edu	37	6	160645737	160645737	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160645737C>A	uc003qte.1	-	c.1601G>T	c.(1600-1602)AGA>ATA	p.R534I	SLC22A2_uc003qtf.2_Missense_Mutation_p.R534I	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	534	Cytoplasmic (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)										0.183099	27.847041	34.531378	13	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160645737	160645737	14947	6	C	A	A	A	312	24	SLC22A2	2	2
LPA	4018	broad.mit.edu	37	6	161027644	161027644	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161027644G>T	uc003qtl.2	-	c.2650C>A	c.(2650-2652)CCT>ACT	p.P884T		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3392	Kringle 30.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.191489	34.804029	43.162058	18	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161027644	161027644	9276	6	G	T	T	T	559	43	LPA	2	2
C6orf118	168090	broad.mit.edu	37	6	165715488	165715488	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165715488G>A	uc003qum.3	-	c.323C>T	c.(322-324)GCC>GTC	p.A108V	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	108											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)										0.303571	41.247791	43.180089	17	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165715488	165715488	2425	6	G	A	A	A	546	42	C6orf118	2	2
C6orf70	55780	broad.mit.edu	37	6	170155445	170155445	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170155445A>T	uc003qxg.1	+	c.242A>T	c.(241-243)CAT>CTT	p.H81L	C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Missense_Mutation_p.H81L|C6orf70_uc010kky.1_5'UTR	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	81						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)										0.333333	74.043555	75.89184	25	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170155445	170155445	2476	6	A	T	T	T	104	8	C6orf70	3	3
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170871082G>A	uc003qxt.2	+	c.258G>A	c.(256-258)CAG>CAA	p.Q86Q	TBP_uc003qxu.2_Silent_p.Q86Q|TBP_uc011ehf.1_Silent_p.Q66Q|TBP_uc011ehg.1_Silent_p.Q86Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death|general transcription from RNA polymerase II promoter|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	general RNA polymerase II transcription factor activity|promoter binding|repressing transcription factor binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)										0.2	7.794211	9.464947	4	16	KEEP	---	---	---	---	capture		Silent	SNP	170871082	170871082	16170	6	G	A	A	A	438	34	TBP	2	2
OR2B3	442184	broad.mit.edu	37	6	29054663	29054663	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29054663G>T	uc003nlx.2	-	c.363C>A	c.(361-363)GAC>GAA	p.D121E		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,												0														0.137931	19.244796	30.273275	12	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29054663	29054663	11396	6	G	T	T	T	620	48	OR2B3	2	2
GRM4	2914	broad.mit.edu	37	6	33996086	33996086	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33996086G>T	uc003oir.3	-	c.2500C>A	c.(2500-2502)CTG>ATG	p.L834M	GRM4_uc011dsn.1_Missense_Mutation_p.L787M|GRM4_uc010jvh.2_Missense_Mutation_p.L834M|GRM4_uc010jvi.2_Missense_Mutation_p.L526M|GRM4_uc003oio.2_Missense_Mutation_p.L526M|GRM4_uc003oip.2_Non-coding_Transcript|GRM4_uc011dsl.1_Missense_Mutation_p.L694M|GRM4_uc003oiq.2_Missense_Mutation_p.L701M|GRM4_uc011dsm.1_Missense_Mutation_p.L665M	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	834	Helical; Name=7; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.138889	38.802922	61.465067	25	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33996086	33996086	7078	6	G	T	T	T	451	35	GRM4	2	2
PACSIN1	29993	broad.mit.edu	37	6	34499478	34499478	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34499478C>A	uc003ojo.2	+	c.1139C>A	c.(1138-1140)CCC>CAC	p.P380H	PACSIN1_uc003ojp.2_Missense_Mutation_p.P380H	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	380					endocytosis		protein kinase activity				0														0.485714	290.003288	290.040714	102	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34499478	34499478	11790	6	C	A	A	A	286	22	PACSIN1	2	2
KIF6	221458	broad.mit.edu	37	6	39328218	39328218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39328218G>A	uc003oot.2	-	c.2035C>T	c.(2035-2037)CAG>TAG	p.Q679*	KIF6_uc003oos.2_Nonsense_Mutation_p.Q130*|KIF6_uc010jwz.1_Nonsense_Mutation_p.Q54*|KIF6_uc010jxa.1_Nonsense_Mutation_p.Q470*|KIF6_uc011dua.1_Nonsense_Mutation_p.Q662*|KIF6_uc010jxb.1_Nonsense_Mutation_p.Q623*	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	679	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.08209	0.839085	24.640175	11	123	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39328218	39328218	8619	6	G	A	A	A	624	48	KIF6	5	2
MOCS1	4337	broad.mit.edu	37	6	39880040	39880040	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39880040G>A	uc003opb.2	-	c.949C>T	c.(949-951)CGC>TGC	p.R317C	MOCS1_uc003opa.2_Missense_Mutation_p.R317C|MOCS1_uc003opc.2_Missense_Mutation_p.R317C|MOCS1_uc003opd.2_Missense_Mutation_p.R317C|MOCS1_uc003ope.2_Missense_Mutation_p.R230C	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	317	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)								0.122951	18.654442	35.619596	15	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39880040	39880040	10081	6	G	A	A	A	507	39	MOCS1	1	1
SLC22A7	10864	broad.mit.edu	37	6	43267366	43267366	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43267366T>A	uc003out.2	+	c.505T>A	c.(505-507)TTT>ATT	p.F169I	SLC22A7_uc010jyl.1_Missense_Mutation_p.F167I|SLC22A7_uc003ous.2_Missense_Mutation_p.F167I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	169						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)											0.084592	3.395068	61.330597	28	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43267366	43267366	14956	6	T	A	A	A	780	60	SLC22A7	3	3
OPN5	221391	broad.mit.edu	37	6	47763200	47763200	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47763200C>A	uc003ozc.2	+	c.657C>A	c.(655-657)TAC>TAA	p.Y219*	OPN5_uc003ozd.2_Nonsense_Mutation_p.Y54*	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	219	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						Melanoma(28;740 973 10870 42660 45347)								0.149123	33.529565	46.968153	17	97	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47763200	47763200	11289	6	C	A	A	A	246	19	OPN5	5	1
RHAG	6005	broad.mit.edu	37	6	49578805	49578805	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49578805G>T	uc003ozk.3	-	c.999C>A	c.(997-999)CTC>CTA	p.L333L	RHAG_uc010jzl.2_Silent_p.L333L|RHAG_uc010jzm.2_Intron	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	333	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)	1	Lung NSC(77;0.0255)					Ovarian(176;476 2003 7720 43408 44749)								0.14433	21.408914	33.202367	14	83	KEEP	---	---	---	---	capture		Silent	SNP	49578805	49578805	13790	6	G	T	T	T	522	41	RHAG	2	2
DEFB110	245913	broad.mit.edu	37	6	49989610	49989610	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49989610C>A	uc003pac.2	-	c.39G>T	c.(37-39)TGG>TGT	p.W13C	DEFB110_uc011dwr.1_Missense_Mutation_p.W13C	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	beta-defensin 110 isoform a	13					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)													0.108696	4.640457	11.620645	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49989610	49989610	4577	6	C	A	A	A	286	22	DEFB110	2	2
RPP40	10799	broad.mit.edu	37	6	5002426	5002426	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:5002426C>T	uc003mwl.2	-	c.177G>A	c.(175-177)CTG>CTA	p.L59L	RPP40_uc003mwm.2_Silent_p.L59L	NM_006638	NP_006629	O75818	RPP40_HUMAN	ribonuclease P 40kDa subunit	59					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0895)												0.055556	-9.503764	12.907886	6	102	KEEP	---	---	---	---	capture		Silent	SNP	5002426	5002426	14093	6	C	T	T	T	262	21	RPP40	2	2
DST	667	broad.mit.edu	37	6	56535599	56535599	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56535599C>A	uc003pdf.2	-	c.955G>T	c.(955-957)GAT>TAT	p.D319Y	DST_uc003pcz.3_Missense_Mutation_p.D141Y|DST_uc011dxj.1_Missense_Mutation_p.D170Y|DST_uc011dxk.1_Missense_Mutation_p.D181Y|DST_uc011dxl.1_Missense_Mutation_p.D170Y|DST_uc003pde.2_Missense_Mutation_p.D257Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	141	Actin-binding.				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				0.166667	7.78376	10.313033	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56535599	56535599	4967	6	C	A	A	A	365	29	DST	2	2
PRIM2	5558	broad.mit.edu	37	6	57512673	57512673	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:57512673C>A	uc003pdx.2	+	c.1501C>A	c.(1501-1503)CTA>ATA	p.L501I		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	501					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)										0.063361	-21.345056	50.58323	23	340	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57512673	57512673	12934	6	C	A	A	A	259	20	PRIM2	2	2
F13A1	2162	broad.mit.edu	37	6	6266798	6266798	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6266798C>A	uc003mwv.2	-	c.564G>T	c.(562-564)TGG>TGT	p.W188C	F13A1_uc011dib.1_Missense_Mutation_p.W125C	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	188					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.076923	-4.231082	26.743728	13	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6266798	6266798	5534	6	C	A	A	A	234	18	F13A1	2	2
SMAP1	60682	broad.mit.edu	37	6	71569988	71569988	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71569988G>C	uc003pfr.2	+	c.1355G>C	c.(1354-1356)TGG>TCG	p.W452S	SMAP1_uc003pfs.2_Missense_Mutation_p.W425S|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_Missense_Mutation_p.W442S|B3GAT2_uc011dxz.1_Non-coding_Transcript	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	452					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0														0.4	77.664053	78.281671	28	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71569988	71569988	15264	6	G	C	C	C	611	47	SMAP1	3	3
LCA5	167691	broad.mit.edu	37	6	80197179	80197179	+	Missense_Mutation	SNP	C	A	A	rs35415141	byFrequency	TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80197179C>A	uc003pix.2	-	c.1636G>T	c.(1636-1638)GCC>TCC	p.A546S	LCA5_uc003piy.2_Missense_Mutation_p.A546S	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	546					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)										0.325203	107.290866	110.662394	40	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80197179	80197179	8979	6	C	A	A	A	364	28	LCA5	2	2
C6orf167	253714	broad.mit.edu	37	6	97720756	97720756	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97720756A>G	uc003ppb.2	-	c.430T>C	c.(430-432)TAT>CAT	p.Y144H	C6orf167_uc011eaf.1_Missense_Mutation_p.Y144H|C6orf167_uc010kcn.1_5'UTR|C6orf167_uc010kco.1_5'UTR|C6orf167_uc003ppc.2_Missense_Mutation_p.Y144H	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	144					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)										0.078125	-0.951364	10.67523	5	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97720756	97720756	2447	6	A	G	G	G	182	14	C6orf167	4	4
FBXO24	26261	broad.mit.edu	37	7	100189522	100189522	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100189522G>T	uc011kjz.1	+	c.669G>T	c.(667-669)AAG>AAT	p.K223N	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.K171N|FBXO24_uc003uvm.1_Missense_Mutation_p.K185N|FBXO24_uc003uvn.1_De_novo_Start_OutOfFrame|FBXO24_uc011kka.1_Missense_Mutation_p.K173N	NM_012172	NP_036304	O75426	FBX24_HUMAN	F-box only protein 24 isoform 3	185						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)													0.180723	31.878798	39.829218	15	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100189522	100189522	5972	7	G	T	T	T	451	35	FBXO24	2	2
ZAN	7455	broad.mit.edu	37	7	100373109	100373109	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100373109A>T	uc003uwj.2	+	c.5939A>T	c.(5938-5940)GAA>GTA	p.E1980V	ZAN_uc003uwk.2_Missense_Mutation_p.E1980V|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Missense_Mutation_p.E67V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1980	Extracellular (Potential).|VWFD 3.				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)											0.113636	4.791096	11.229595	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100373109	100373109	18096	7	A	T	T	T	117	9	ZAN	3	3
ZAN	7455	broad.mit.edu	37	7	100386844	100386844	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100386844A>G	uc003uwj.2	+	c.7232A>G	c.(7231-7233)AAC>AGC	p.N2411S	ZAN_uc003uwk.2_Missense_Mutation_p.N2411S|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Missense_Mutation_p.N461S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2411	VWFD 4.|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)											0.105263	3.173862	9.0585	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100386844	100386844	18096	7	A	G	G	G	26	2	ZAN	4	4
PLOD3	8985	broad.mit.edu	37	7	100853845	100853846	+	Missense_Mutation	DNP	CC	GA	GA			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100853845_100853846CC>GA	uc003uyd.2	-	c.1467_1468GG>TC	c.(1465-1470)CCGGAC>CCTCAC	p.D490H	PLOD3_uc010lhs.2_Missense_Mutation_p.D55H	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	490					oxidation-reduction process|protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)									0.083333	2.195615	10.633589	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	100853845	100853846	12529	7	CC	GA	GA	GA	390	30	PLOD3	3	3
PIK3CG	5294	broad.mit.edu	37	7	106508431	106508431	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106508431C>A	uc003vdv.3	+	c.425C>A	c.(424-426)CCG>CAG	p.P142Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.P142Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.P142Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	142					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.185185	10.058597	12.568951	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106508431	106508431	12340	7	C	A	A	A	299	23	PIK3CG	1	1
PNPLA8	50640	broad.mit.edu	37	7	108113021	108113021	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:108113021C>A	uc003vff.1	-	c.2173G>T	c.(2173-2175)GAA>TAA	p.E725*	PNPLA8_uc003vfg.1_Non-coding_Transcript|PNPLA8_uc003vfh.1_Nonsense_Mutation_p.E725*|PNPLA8_uc003vfi.1_Nonsense_Mutation_p.E625*|PNPLA8_uc003vfj.1_Nonsense_Mutation_p.E725*|PNPLA8_uc003vfk.1_Nonsense_Mutation_p.E625*	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	725					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2														0.228916	43.50475	49.083711	19	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108113021	108113021	12598	7	C	A	A	A	377	29	PNPLA8	5	2
PPP1R3A	5506	broad.mit.edu	37	7	113558551	113558551	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:113558551C>G	uc010ljy.1	-	c.501G>C	c.(499-501)CAG>CAC	p.Q167H		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	167	CBM21.				glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.220339	32.269404	36.511818	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113558551	113558551	12806	7	C	G	G	G	415	32	PPP1R3A	3	3
FOXP2	93986	broad.mit.edu	37	7	114268643	114268643	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:114268643C>A	uc003vgz.2	+	c.382C>A	c.(382-384)CAA>AAA	p.Q128K	FOXP2_uc003vgu.2_Non-coding_Transcript|FOXP2_uc003vha.2_Missense_Mutation_p.Q11K|FOXP2_uc003vhb.2_Missense_Mutation_p.Q103K|FOXP2_uc011kmu.1_Missense_Mutation_p.Q103K|FOXP2_uc011kmv.1_Missense_Mutation_p.Q103K|FOXP2_uc010ljz.1_Missense_Mutation_p.Q11K|FOXP2_uc003vgt.1_Non-coding_Transcript|FOXP2_uc003vgv.1_Missense_Mutation_p.Q103K|FOXP2_uc003vgw.2_Missense_Mutation_p.Q128K|FOXP2_uc003vgx.2_Missense_Mutation_p.Q103K|FOXP2_uc003vhd.2_Missense_Mutation_p.Q103K|FOXP2_uc003vhc.2_Missense_Mutation_p.Q128K	NM_148898	NP_683696	O15409	FOXP2_HUMAN	forkhead box P2 isoform II	103	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|lung(1)|breast(1)|pancreas(1)	7														0.213675	58.920233	67.77426	25	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114268643	114268643	6273	7	C	A	A	A	325	25	FOXP2	2	2
THSD7A	221981	broad.mit.edu	37	7	11871399	11871399	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11871399G>A	uc003ssf.3	-	c.174C>T	c.(172-174)CTC>CTT	p.L58L		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	58	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.230769	7.318465	8.181832	3	10	KEEP	---	---	---	---	capture		Silent	SNP	11871399	11871399	16407	7	G	A	A	A	418	33	THSD7A	2	2
PTPRZ1	5803	broad.mit.edu	37	7	121652004	121652004	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121652004T>G	uc003vjy.2	+	c.2904T>G	c.(2902-2904)CAT>CAG	p.H968Q	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	968	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.217822	61.109296	68.511828	22	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121652004	121652004	13272	7	T	G	G	G	634	49	PTPRZ1	4	4
SLC13A1	6561	broad.mit.edu	37	7	122809329	122809329	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122809329C>A	uc003vkm.2	-	c.426G>T	c.(424-426)TCG>TCT	p.S142S	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	142	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)									0.212121	16.816393	19.337518	7	26	KEEP	---	---	---	---	capture		Silent	SNP	122809329	122809329	14886	7	C	A	A	A	392	31	SLC13A1	1	1
GCC1	79571	broad.mit.edu	37	7	127222944	127222944	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127222944C>T	uc003vma.2	-	c.1452G>A	c.(1450-1452)GAG>GAA	p.E484E		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	484	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2														0.161616	28.593396	39.483082	16	83	KEEP	---	---	---	---	capture		Silent	SNP	127222944	127222944	6551	7	C	T	T	T	363	28	GCC1	2	2
PAX4	5078	broad.mit.edu	37	7	127251669	127251669	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127251669C>G	uc010lld.1	-	c.809G>C	c.(808-810)TGC>TCC	p.C270S	PAX4_uc003vmf.2_Missense_Mutation_p.C268S|PAX4_uc003vmg.1_Missense_Mutation_p.C270S	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	278	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1						Ovarian(113;737 1605 7858 27720 34092)								0.0875	2.359876	16.140474	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127251669	127251669	11901	7	C	G	G	G	325	25	PAX4	3	3
FLNC	2318	broad.mit.edu	37	7	128491313	128491313	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128491313C>A	uc003vnz.3	+	c.5567C>A	c.(5566-5568)GCC>GAC	p.A1856D	FLNC_uc003voa.3_Missense_Mutation_p.A1823D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1856	Filamin 17.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.114286	3.279598	8.414438	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128491313	128491313	6177	7	C	A	A	A	338	26	FLNC	2	2
CPA5	93979	broad.mit.edu	37	7	129986367	129986367	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129986367C>G	uc010lmd.1	+	c.41C>G	c.(40-42)TCC>TGC	p.S14C	CPA5_uc003vps.2_Missense_Mutation_p.S14C|CPA5_uc003vpt.2_Missense_Mutation_p.S14C|CPA5_uc010lme.1_Missense_Mutation_p.S14C|CPA5_uc003vpu.1_Missense_Mutation_p.S14C	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	14					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)													0.276316	54.201717	57.65996	21	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129986367	129986367	3931	7	C	G	G	G	390	30	CPA5	3	3
CPA1	1357	broad.mit.edu	37	7	130022004	130022004	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130022004T>C	uc003vpx.2	+	c.437T>C	c.(436-438)ATC>ACC	p.I146T	CPA1_uc011kpf.1_Missense_Mutation_p.I58T|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	146					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.287879	43.573204	46.332132	19	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130022004	130022004	3927	7	T	C	C	C	650	50	CPA1	4	4
SVOPL	136306	broad.mit.edu	37	7	138341202	138341202	+	Silent	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138341202G>A	uc011kqh.1	-	c.525C>T	c.(523-525)CCC>CCT	p.P175P	SVOPL_uc003vue.2_Silent_p.P23P	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	175					transmembrane transport	integral to membrane	transporter activity				0														0.097902	14.461993	37.584972	14	129	KEEP	---	---	---	---	capture		Silent	SNP	138341202	138341202	15944	7	G	A	A	A	444	35	SVOPL	2	2
KIAA1549	57670	broad.mit.edu	37	7	138603171	138603171	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138603171C>A	uc011kql.1	-	c.1201G>T	c.(1201-1203)GGT>TGT	p.G401C	KIAA1549_uc003vuk.3_Missense_Mutation_p.G351C|KIAA1549_uc011kqj.1_Missense_Mutation_p.G401C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	401						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.205882	31.598366	37.082716	14	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138603171	138603171	8553	7	C	A	A	A	299	23	KIAA1549	1	1
TRPV5	56302	broad.mit.edu	37	7	142605742	142605742	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142605742C>A	uc003wby.1	-	c.2128G>T	c.(2128-2130)GGG>TGG	p.G710W		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	710	Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.067568	-3.849187	10.449813	5	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142605742	142605742	17150	7	C	A	A	A	286	22	TRPV5	2	2
GIMAP5	55340	broad.mit.edu	37	7	150439478	150439479	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150439478_150439479CC>AA	uc003whr.1	+	c.251_252CC>AA	c.(250-252)CCC>CAA	p.P84Q	GIMAP5_uc010lpu.2_5'UTR	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	84	GTP (Potential).|Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.231884	40.211212	44.722096	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	150439478	150439479	6650	7	CC	AA	AA	AA	286	22	GIMAP5	2	2
TWIST1	7291	broad.mit.edu	37	7	19156451	19156451	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19156451C>G	uc003sum.2	-	c.494G>C	c.(493-495)AGC>ACC	p.S165T		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	165	Sufficient for transactivation activity (By similarity).				muscle organ development|negative regulation of transcription from RNA polymerase II promoter	nucleus	enzyme inhibitor activity|transcription factor binding|transcription regulator activity				0														0.113636	5.886694	12.328358	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19156451	19156451	17339	7	C	G	G	G	364	28	TWIST1	3	3
ITGB8	3696	broad.mit.edu	37	7	20418723	20418723	+	Silent	SNP	T	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20418723T>G	uc003suu.2	+	c.438T>G	c.(436-438)CCT>CCG	p.P146P	ITGB8_uc011jyh.1_Silent_p.P11P|ITGB8_uc003sut.2_Silent_p.P146P	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	146	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(2)	2										842				0.086538	1.591406	19.603379	9	95	KEEP	---	---	---	---	capture		Silent	SNP	20418723	20418723	8205	7	T	G	G	G	704	55	ITGB8	4	4
LFNG	3955	broad.mit.edu	37	7	2565073	2565073	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2565073A>T	uc003smf.2	+	c.607A>T	c.(607-609)AAC>TAC	p.N203Y	LFNG_uc003smg.2_Missense_Mutation_p.N203Y	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	lunatic fringe isoform a	203	Lumenal (Potential).				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)										0.371429	36.562489	37.072008	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2565073	2565073	9062	7	A	T	T	T	65	5	LFNG	3	3
HOXA4	3201	broad.mit.edu	37	7	27169145	27169145	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27169145G>T	uc003sym.3	-	c.662C>A	c.(661-663)GCC>GAC	p.A221D	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	221	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(1)	1														0.305085	49.62838	51.627852	18	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27169145	27169145	7586	7	G	T	T	T	546	42	HOXA4	2	2
CARD11	84433	broad.mit.edu	37	7	2974224	2974224	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2974224C>A	uc003smv.2	-	c.1381G>T	c.(1381-1383)GAC>TAC	p.D461Y		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	461					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.117647	4.435249	11.757589	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2974224	2974224	2764	7	C	A	A	A	390	30	CARD11	2	2
GARS	2617	broad.mit.edu	37	7	30655527	30655527	+	Silent	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30655527A>T	uc003tbm.2	+	c.1047A>T	c.(1045-1047)GCA>GCT	p.A349A		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	349	Substrate binding.				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)									0.161765	21.902734	29.285759	11	57	KEEP	---	---	---	---	capture		Silent	SNP	30655527	30655527	6506	7	A	T	T	T	80	7	GARS	3	3
AOAH	313	broad.mit.edu	37	7	36561649	36561649	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36561649T>A	uc003tfh.3	-	c.1595A>T	c.(1594-1596)AAC>ATC	p.N532I	AOAH_uc010kxf.2_Missense_Mutation_p.N532I|AOAH_uc011kba.1_Missense_Mutation_p.N500I	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	532					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity				0														0.386364	50.26465	50.762605	17	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36561649	36561649	736	7	T	A	A	A	780	60	AOAH	3	3
AMPH	273	broad.mit.edu	37	7	38424435	38424435	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38424435G>T	uc003tgu.2	-	c.2072C>A	c.(2071-2073)ACC>AAC	p.T691N	AMPH_uc003tgv.2_Missense_Mutation_p.T649N|AMPH_uc003tgt.2_Missense_Mutation_p.T576N	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	691	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.25	52.942308	57.710151	21	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38424435	38424435	591	7	G	T	T	T	572	44	AMPH	2	2
HECW1	23072	broad.mit.edu	37	7	43508597	43508597	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43508597G>T	uc003tid.1	+	c.2992G>T	c.(2992-2994)GAA>TAA	p.E998*	HECW1_uc011kbi.1_Nonsense_Mutation_p.E964*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	998					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.14	11.61087	17.851708	7	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43508597	43508597	7325	7	G	T	T	T	585	45	HECW1	5	2
ABCA13	154664	broad.mit.edu	37	7	48311759	48311759	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48311759C>A	uc003toq.2	+	c.2496C>A	c.(2494-2496)CCC>CCA	p.P832P	ABCA13_uc010kyr.2_Silent_p.P335P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	832					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.107143	3.204052	7.49195	3	25	KEEP	---	---	---	---	capture		Silent	SNP	48311759	48311759	32	7	C	A	A	A	262	21	ABCA13	2	2
VSTM2A	222008	broad.mit.edu	37	7	54612373	54612373	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:54612373G>T	uc003tqc.3	+	c.138G>T	c.(136-138)ATG>ATT	p.M46I	VSTM2A_uc010kze.2_Missense_Mutation_p.M46I|VSTM2A_uc010kzf.2_Missense_Mutation_p.M46I	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	46	Ig-like V-type.					extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)											0.126984	12.458789	21.006132	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54612373	54612373	17797	7	G	T	T	T	624	48	VSTM2A	2	2
RFC2	5982	broad.mit.edu	37	7	73664086	73664086	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73664086G>C	uc003uaj.2	-	c.208C>G	c.(208-210)CCC>GCC	p.P70A	RFC2_uc011kfa.1_Non-coding_Transcript|RFC2_uc003uak.2_Missense_Mutation_p.P70A|RFC2_uc010lbp.2_Missense_Mutation_p.P33A|RFC2_uc003ual.2_5'UTR	NM_181471	NP_852136	P35250	RFC2_HUMAN	replication factor C 2 isoform 1	70					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2														0.122807	11.499534	19.423159	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73664086	73664086	13716	7	G	C	C	C	546	42	RFC2	3	3
HGF	3082	broad.mit.edu	37	7	81336644	81336644	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81336644C>A	uc003uhl.2	-	c.1578G>T	c.(1576-1578)GAG>GAT	p.E526D	HGF_uc003uhm.2_Missense_Mutation_p.E521D	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	526	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.229508	31.614117	35.710667	14	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81336644	81336644	7369	7	C	A	A	A	415	32	HGF	2	2
PCLO	27445	broad.mit.edu	37	7	82579889	82579889	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82579889C>G	uc003uhx.2	-	c.10015G>C	c.(10015-10017)GGT>CGT	p.G3339R	PCLO_uc003uhv.2_Missense_Mutation_p.G3339R|PCLO_uc010lec.2_Missense_Mutation_p.G304R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3270					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														0.318182	68.550251	71.147851	28	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82579889	82579889	12003	7	C	G	G	G	312	24	PCLO	3	3
AKAP9	10142	broad.mit.edu	37	7	91714919	91714919	+	Silent	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91714919A>G	uc003ulg.2	+	c.8943A>G	c.(8941-8943)CTA>CTG	p.L2981L	AKAP9_uc003ulf.2_Silent_p.L2973L|AKAP9_uc003uli.2_Silent_p.L2604L|AKAP9_uc003ulj.2_Silent_p.L751L|AKAP9_uc003ulk.2_Silent_p.L256L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2985					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)							807				0.373134	82.463655	83.408608	25	42	KEEP	---	---	---	---	capture		Silent	SNP	91714919	91714919	462	7	A	G	G	G	184	15	AKAP9	4	4
PEX1	5189	broad.mit.edu	37	7	92146692	92146692	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92146692C>A	uc003uly.2	-	c.1137G>T	c.(1135-1137)GAG>GAT	p.E379D	PEX1_uc011khr.1_Missense_Mutation_p.E171D|PEX1_uc010ley.2_Missense_Mutation_p.E379D|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	379					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)											0.22905	94.024362	106.048158	41	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92146692	92146692	12157	7	C	A	A	A	415	32	PEX1	2	2
ASNS	440	broad.mit.edu	37	7	97481671	97481671	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:97481671C>A	uc003uot.3	-	c.1586G>T	c.(1585-1587)CGG>CTG	p.R529L	ASNS_uc011kin.1_Missense_Mutation_p.R446L|ASNS_uc003uou.3_Missense_Mutation_p.R529L|ASNS_uc003uov.3_Missense_Mutation_p.R529L|ASNS_uc011kio.1_Missense_Mutation_p.R508L|ASNS_uc003uow.3_Missense_Mutation_p.R508L|ASNS_uc003uox.3_Missense_Mutation_p.R446L	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	529	Asparagine synthetase.				asparagine biosynthetic process|cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)								0.333333	98.451581	101.1147	36	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97481671	97481671	1067	7	C	A	A	A	299	23	ASNS	1	1
GRHL2	79977	broad.mit.edu	37	8	102555568	102555568	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:102555568G>T	uc010mbu.2	+	c.120G>T	c.(118-120)TTG>TTT	p.L40F	GRHL2_uc010mbt.1_Missense_Mutation_p.L40F|GRHL2_uc011lhi.1_Missense_Mutation_p.L40F	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	40	Transcription activation.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)											0.110169	12.356248	30.046426	13	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102555568	102555568	7042	8	G	T	T	T	607	47	GRHL2	2	2
ANGPT1	284	broad.mit.edu	37	8	108276559	108276559	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108276559G>T	uc003ymn.2	-	c.1226C>A	c.(1225-1227)ACT>AAT	p.T409N	ANGPT1_uc011lhv.1_Missense_Mutation_p.T209N|ANGPT1_uc003ymo.2_Missense_Mutation_p.T408N	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	409	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)	3	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)											0.192308	22.826055	27.419496	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108276559	108276559	613	8	G	T	T	T	468	36	ANGPT1	2	2
NUDCD1	84955	broad.mit.edu	37	8	110293353	110293353	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110293353A>G	uc003ynb.3	-	c.872T>C	c.(871-873)ATA>ACA	p.I291T	NUDCD1_uc003yna.2_Missense_Mutation_p.I262T|NUDCD1_uc010mcl.2_Missense_Mutation_p.I204T|NUDCD1_uc010mcm.1_Missense_Mutation_p.I204T	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	291	CS.									ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)											0.226415	31.174726	34.815789	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110293353	110293353	11127	8	A	G	G	G	208	16	NUDCD1	4	4
PKHD1L1	93035	broad.mit.edu	37	8	110455957	110455958	+	Nonsense_Mutation	DNP	AG	GT	GT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110455957_110455958AG>GT	uc003yne.2	+	c.4617_4618AG>GT	c.(4615-4620)ACAGAA>ACGTAA	p.E1540*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1540	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.40625	32.088227	32.353733	13	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	110455957	110455958	12397	8	AG	GT	GT	GT	80	7	PKHD1L1	5	4
CSMD3	114788	broad.mit.edu	37	8	113301729	113301729	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113301729C>A	uc003ynu.2	-	c.9013G>T	c.(9013-9015)GTC>TTC	p.V3005F	CSMD3_uc003yns.2_Missense_Mutation_p.V2207F|CSMD3_uc003ynt.2_Missense_Mutation_p.V2965F|CSMD3_uc011lhx.1_Missense_Mutation_p.V2836F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3005	Sushi 21.|Extracellular (Potential).					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)			0.483871	47.72314	47.730192	15	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113301729	113301729	4087	8	C	A	A	A	260	20	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113349926	113349926	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113349926C>A	uc003ynu.2	-	c.6687G>T	c.(6685-6687)CCG>CCT	p.P2229P	CSMD3_uc003yns.2_Silent_p.P1431P|CSMD3_uc003ynt.2_Silent_p.P2189P|CSMD3_uc011lhx.1_Silent_p.P2125P|CSMD3_uc003ynw.1_5'UTR	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2229	Extracellular (Potential).|Sushi 12.					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)			0.2	42.484371	49.157174	16	64	KEEP	---	---	---	---	capture		Silent	SNP	113349926	113349926	4087	8	C	A	A	A	236	19	CSMD3	1	1
BLK	640	broad.mit.edu	37	8	11412861	11412861	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11412861C>T	uc003wty.2	+	c.640C>T	c.(640-642)CAG>TAG	p.Q214*	BLK_uc003wtz.2_Nonsense_Mutation_p.Q143*	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	214	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion|protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|ovary(1)	2			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)						676				0.194444	31.412567	37.680236	14	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11412861	11412861	1469	8	C	T	T	T	273	21	BLK	5	2
DLC1	10395	broad.mit.edu	37	8	12943439	12943439	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:12943439C>G	uc003wwm.2	-	c.4468G>C	c.(4468-4470)GGC>CGC	p.G1490R	DLC1_uc003wwk.1_Missense_Mutation_p.G1053R|DLC1_uc003wwl.1_Missense_Mutation_p.G1087R|DLC1_uc011kxx.1_Missense_Mutation_p.G979R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1490	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7										739				0.210526	16.975536	19.926769	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12943439	12943439	4730	8	C	G	G	G	286	22	DLC1	3	3
TG	7038	broad.mit.edu	37	8	133920554	133920554	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133920554A>T	uc003ytw.2	+	c.3971A>T	c.(3970-3972)GAG>GTG	p.E1324V	TG_uc010mdw.2_Missense_Mutation_p.E83V	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1324					hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.081633	-0.34009	8.39832	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133920554	133920554	16341	8	A	T	T	T	143	11	TG	3	3
WISP1	8840	broad.mit.edu	37	8	134232832	134232832	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134232832G>T	uc003yub.2	+	c.358G>T	c.(358-360)GGT>TGT	p.G120C	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	120					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)											0.137255	11.705991	18.186117	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134232832	134232832	17946	8	G	T	T	T	507	39	WISP1	1	1
FAM135B	51059	broad.mit.edu	37	8	139163465	139163465	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139163465C>A	uc003yuy.2	-	c.3253G>T	c.(3253-3255)GAT>TAT	p.D1085Y	FAM135B_uc003yux.2_Missense_Mutation_p.D986Y|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Missense_Mutation_p.D647Y|FAM135B_uc003yvb.2_Missense_Mutation_p.D647Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1085										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.21875	15.906356	18.239996	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139163465	139163465	5646	8	C	A	A	A	390	30	FAM135B	2	2
FAM83H	286077	broad.mit.edu	37	8	144810850	144810850	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144810850C>A	uc003yzk.2	-	c.781G>T	c.(781-783)GTG>TTG	p.V261L	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	261					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)											0.272727	24.066352	25.600468	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144810850	144810850	5866	8	C	A	A	A	247	19	FAM83H	1	1
GSR	2936	broad.mit.edu	37	8	30560645	30560645	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30560645C>A	uc003xih.1	-	c.605G>T	c.(604-606)GGT>GTT	p.G202V		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	202					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion|oxidation-reduction process	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)									0.323944	64.810144	66.758421	23	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30560645	30560645	7108	8	C	A	A	A	234	18	GSR	2	2
TEX15	56154	broad.mit.edu	37	8	30703989	30703989	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30703989C>A	uc003xil.2	-	c.2545G>T	c.(2545-2547)GTG>TTG	p.V849L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	849										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.236364	32.948015	36.442806	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30703989	30703989	16306	8	C	A	A	A	260	20	TEX15	2	2
CSMD1	64478	broad.mit.edu	37	8	3081280	3081281	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3081280_3081281CG>AA	uc011kwk.1	-	c.4457_4458CG>TT	c.(4456-4458)CCG>CTT	p.P1486L	CSMD1_uc011kwj.1_Missense_Mutation_p.P878L|CSMD1_uc003wqe.2_Missense_Mutation_p.P642L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1486	Extracellular (Potential).|CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.2	19.187352	22.527674	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	3081280	3081281	4085	8	CG	AA	AA	AA	288	23	CSMD1	1	1
IKBKB	3551	broad.mit.edu	37	8	42162703	42162703	+	Splice_Site_SNP	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42162703A>T	uc003xow.1	+	c.389_splice	c.e6-2	p.A130_splice	IKBKB_uc003xov.2_Splice_Site_SNP_p.A130_splice|IKBKB_uc010lxh.1_Splice_Site_SNP_p.A25_splice|IKBKB_uc011lco.1_Splice_Site_SNP|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_Splice_Site_SNP|IKBKB_uc011lcp.1_Splice_Site_SNP|IKBKB_uc011lcq.1_Splice_Site_SNP_p.A128_splice|IKBKB_uc010lxi.1_Splice_Site_SNP|IKBKB_uc011lcr.1_Splice_Site_SNP_p.A71_splice	NM_001556	NP_001547			inhibitor of nuclear factor kappa B kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein phosphorylation|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity|transcription activator activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)					402				0.151515	10.254365	14.091053	5	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42162703	42162703	7912	8	A	T	T	T	91	7	IKBKB	5	3
SNTG1	54212	broad.mit.edu	37	8	51362231	51362232	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51362231_51362232GG>AT	uc010lxy.1	+	c.223_224GG>AT	c.(223-225)GGA>ATA	p.G75I	SNTG1_uc003xqs.1_Missense_Mutation_p.G75I|SNTG1_uc010lxz.1_Missense_Mutation_p.G75I|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	75	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.107143	3.807724	8.092071	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	51362231	51362232	15374	8	GG	AT	AT	AT	455	35	SNTG1	2	2
ST18	9705	broad.mit.edu	37	8	53079509	53079509	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53079509C>A	uc003xqz.2	-	c.1107G>T	c.(1105-1107)CCG>CCT	p.P369P	ST18_uc011ldq.1_Silent_p.P16P|ST18_uc011ldr.1_Silent_p.P334P|ST18_uc011lds.1_Silent_p.P274P|ST18_uc003xra.2_Silent_p.P369P|ST18_uc003xrb.2_Silent_p.P369P	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	369	C2HC-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.104839	12.80056	32.038964	13	111	KEEP	---	---	---	---	capture		Silent	SNP	53079509	53079509	15730	8	C	A	A	A	392	31	ST18	1	1
FAM150A	389658	broad.mit.edu	37	8	53454952	53454952	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53454952C>T	uc003xrd.2	-	c.244G>A	c.(244-246)GGG>AGG	p.G82R	FAM150A_uc011ldt.1_Missense_Mutation_p.G82R	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	hypothetical protein LOC389658 precursor	82						extracellular region					0		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)												0.25	16.53756	17.901672	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53454952	53454952	5654	8	C	T	T	T	312	24	FAM150A	2	2
MOS	4342	broad.mit.edu	37	8	57026314	57026314	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57026314C>T	uc011leb.1	-	c.228G>A	c.(226-228)AAG>AAA	p.K76K		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	76	Protein kinase.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3			Epithelial(17;0.00117)|all cancers(17;0.00879)			Esophageal Squamous(124;373 2870 4778)				32				0.139535	21.483756	32.242159	12	74	KEEP	---	---	---	---	capture		Silent	SNP	57026314	57026314	10104	8	C	T	T	T	311	24	MOS	2	2
ARFGEF1	10565	broad.mit.edu	37	8	68131673	68131673	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68131673T>G	uc003xxo.1	-	c.4331A>C	c.(4330-4332)CAG>CCG	p.Q1444P	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q898P|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Q427P	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1444					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)							932				0.342857	33.687886	34.45213	12	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68131673	68131673	863	8	T	G	G	G	715	55	ARFGEF1	4	4
DEFA1B	728358	broad.mit.edu	37	8	6873527	6873527	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6873527C>A	uc003wqz.1	-	c.270G>T	c.(268-270)TGG>TGT	p.W90C		NM_005217	NP_005208	P59665	DEF1_HUMAN	defensin, alpha 3 preproprotein	90					chemotaxis|defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism|response to virus	extracellular space					0														0.285714	27.450546	28.883788	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6873527	6873527	4560	8	C	A	A	A	286	22	DEFA1B	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88885799	88885799	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88885799G>T	uc003ydz.2	-	c.401C>A	c.(400-402)TCA>TAA	p.S134*		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	134										ovary(1)	1														0.10989	10.288869	23.991625	10	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88885799	88885799	4443	8	G	T	T	T	585	45	DCAF4L2	5	2
PDP1	54704	broad.mit.edu	37	8	94934891	94934891	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:94934891A>G	uc011lgn.1	+	c.781A>G	c.(781-783)AAG>GAG	p.K261E	PDP1_uc003yge.2_Missense_Mutation_p.K202E|PDP1_uc003ygf.2_Missense_Mutation_p.K227E|PDP1_uc010max.2_Missense_Mutation_p.K227E|PDP1_uc011lgm.1_Missense_Mutation_p.K202E	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	202					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.103896	3.906599	16.066758	8	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94934891	94934891	12106	8	A	G	G	G	169	13	PDP1	4	4
CDH17	1015	broad.mit.edu	37	8	95188891	95188891	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95188891G>A	uc003ygh.2	-	c.302C>T	c.(301-303)GCT>GTT	p.A101V	CDH17_uc011lgo.1_Missense_Mutation_p.A101V|CDH17_uc011lgp.1_Missense_Mutation_p.A101V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	101	Extracellular (Potential).|Cadherin 1.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.409091	52.337265	52.655912	18	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95188891	95188891	3231	8	G	A	A	A	442	34	CDH17	2	2
DMRT2	10655	broad.mit.edu	37	9	1053751	1053751	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:1053751T>A	uc003zha.2	+	c.555T>A	c.(553-555)AAT>AAA	p.N185K	DMRT2_uc003zgx.3_5'UTR|DMRT2_uc010mgz.2_5'UTR|DMRT2_uc003zgy.3_Missense_Mutation_p.N29K|DMRT2_uc003zhb.3_Missense_Mutation_p.N185K|DMRT2_uc011llt.1_Missense_Mutation_p.N185K|DMRT2_uc011llu.1_Missense_Mutation_p.N185K|DMRT2_uc011llv.1_Missense_Mutation_p.N185K	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	185					male gonad development|regulation of transcription, DNA-dependent|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)										0.230769	39.893749	44.209389	15	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1053751	1053751	4766	9	T	A	A	A	634	49	DMRT2	3	3
EPB41L4B	54566	broad.mit.edu	37	9	111945062	111945062	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:111945062C>G	uc004bdz.1	-	c.2434G>C	c.(2434-2436)GTT>CTT	p.V812L		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	812						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2														0.269663	70.90661	75.137817	24	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111945062	111945062	5349	9	C	G	G	G	234	18	EPB41L4B	3	3
PTPN3	5774	broad.mit.edu	37	9	112145729	112145729	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:112145729G>C	uc004bed.2	-	c.2356C>G	c.(2356-2358)CGA>GGA	p.R786G	PTPN3_uc004beb.2_Missense_Mutation_p.R655G|PTPN3_uc004bec.2_Missense_Mutation_p.R610G|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R741G|PTPN3_uc011lwh.1_Missense_Mutation_p.R632G|PTPN3_uc011lwd.1_Missense_Mutation_p.R254G|PTPN3_uc011lwe.1_Missense_Mutation_p.R499G|PTPN3_uc011lwf.1_Missense_Mutation_p.R454G	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	786	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.336364	98.528955	101.140519	37	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112145729	112145729	13246	9	G	C	C	C	506	39	PTPN3	3	3
COL27A1	85301	broad.mit.edu	37	9	116931472	116931472	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116931472G>A	uc011lxl.1	+	c.1637G>A	c.(1636-1638)GGA>GAA	p.G546E	COL27A1_uc004bii.2_Non-coding_Transcript|COL27A1_uc010mvd.1_Missense_Mutation_p.G396E	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	546	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.214286	32.903058	38.169045	15	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116931472	116931472	3823	9	G	A	A	A	533	41	COL27A1	2	2
DDX31	64794	broad.mit.edu	37	9	135470484	135470484	+	Silent	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135470484C>T	uc004cbq.1	-	c.2325G>A	c.(2323-2325)AAG>AAA	p.K775K	DDX31_uc010mzu.1_Silent_p.K702K	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	775						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)										0.067416	-2.824781	14.422984	6	83	KEEP	---	---	---	---	capture		Silent	SNP	135470484	135470484	4527	9	C	T	T	T	415	32	DDX31	2	2
DBH	1621	broad.mit.edu	37	9	136501520	136501520	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136501520C>A	uc004cel.2	+	c.27C>A	c.(25-27)AGC>AGA	p.S9R		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	9	Cytoplasmic (Potential).				hormone biosynthetic process|oxidation-reduction process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)									0.105263	3.629247	9.464367	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136501520	136501520	4421	9	C	A	A	A	337	26	DBH	2	2
COL5A1	1289	broad.mit.edu	37	9	137681001	137681001	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137681001G>T	uc004cfe.2	+	c.2647G>T	c.(2647-2649)GGC>TGC	p.G883C		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	883	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)										0.388889	19.821878	20.016164	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137681001	137681001	3834	9	G	T	T	T	559	43	COL5A1	2	2
ENTPD2	954	broad.mit.edu	37	9	139945771	139945771	+	Silent	SNP	T	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139945771T>C	uc004ckw.1	-	c.438A>G	c.(436-438)ACA>ACG	p.T146T	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.T146T	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	146	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)										0.22449	22.026926	25.536219	11	38	KEEP	---	---	---	---	capture		Silent	SNP	139945771	139945771	5332	9	T	C	C	C	756	59	ENTPD2	4	4
SH3GL2	6456	broad.mit.edu	37	9	17789439	17789439	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:17789439A>T	uc003zna.2	+	c.515A>T	c.(514-516)AAG>ATG	p.K172M	SH3GL2_uc011lmx.1_Missense_Mutation_p.K137M|SH3GL2_uc011lmy.1_Missense_Mutation_p.K125M	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	172	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding				0				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)										0.12963	9.484883	16.699513	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17789439	17789439	14743	9	A	T	T	T	39	3	SH3GL2	3	3
FAM108B1	51104	broad.mit.edu	37	9	74489639	74489639	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74489639A>T	uc004ail.2	-	c.358T>A	c.(358-360)TGT>AGT	p.C120S	FAM108B1_uc004aim.1_Missense_Mutation_p.C120S	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	family with sequence similarity 108, member B1	120					proteolysis	extracellular region	serine-type peptidase activity				0														0.106061	8.088359	18.249932	7	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74489639	74489639	5589	9	A	T	T	T	65	5	FAM108B1	3	3
TRPM6	140803	broad.mit.edu	37	9	77377884	77377884	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77377884C>A	uc004ajl.1	-	c.3703G>T	c.(3703-3705)GAG>TAG	p.E1235*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.E1230*|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.E191*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1235	Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.283019	39.707489	41.94591	15	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77377884	77377884	17141	9	C	A	A	A	377	29	TRPM6	5	2
FLJ46321	389763	broad.mit.edu	37	9	84609053	84609053	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84609053C>A	uc004amn.2	+	c.3668C>A	c.(3667-3669)ACT>AAT	p.T1223N		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1223						integral to membrane					0														0.322148	145.647845	149.833098	48	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84609053	84609053	6174	9	C	A	A	A	260	20	FLJ46321	2	2
PTPRD	5789	broad.mit.edu	37	9	8486071	8486071	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8486071C>T	uc003zkk.2	-	c.2746G>A	c.(2746-2748)GAA>AAA	p.E916K	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.E907K|PTPRD_uc003zkm.2_Missense_Mutation_p.E903K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	916	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.272727	31.479332	33.528889	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8486071	8486071	13256	9	C	T	T	T	416	32	PTPRD	2	2
PTPRD	5789	broad.mit.edu	37	9	8486172	8486172	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8486172G>T	uc003zkk.2	-	c.2645C>A	c.(2644-2646)GCT>GAT	p.A882D	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.A873D|PTPRD_uc003zkm.2_Missense_Mutation_p.A869D|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	882	Fibronectin type-III 6.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.162162	11.924805	15.941405	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8486172	8486172	13256	9	G	T	T	T	442	34	PTPRD	2	2
TEX13A	56157	broad.mit.edu	37	X	104463698	104463698	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:104463698C>G	uc004ema.2	-	c.1178G>C	c.(1177-1179)AGG>ACG	p.R393T	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_3'UTR	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	393	RanBP2-type.					intracellular	zinc ion binding			ovary(2)	2														0.359551	92.080628	93.623875	32	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104463698	104463698	16303	23	C	G	G	G	312	24	TEX13A	3	3
SERPINA7	6906	broad.mit.edu	37	X	105277677	105277677	+	Silent	SNP	C	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105277677C>G	uc004eme.1	-	c.1062G>C	c.(1060-1062)GTG>GTC	p.V354V	SERPINA7_uc010npd.2_Silent_p.V354V	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	354					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)									0.271845	81.669226	86.579749	28	75	KEEP	---	---	---	---	capture		Silent	SNP	105277677	105277677	14582	23	C	G	G	G	314	25	SERPINA7	3	3
AKAP14	158798	broad.mit.edu	37	X	119048729	119048729	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119048729G>A	uc004ese.2	+	c.329G>A	c.(328-330)AGC>AAC	p.S110N	AKAP14_uc004esf.2_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	110						cytoplasm					0														0.217391	38.515136	43.576175	15	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119048729	119048729	453	23	G	A	A	A	442	34	AKAP14	2	2
FHL1	2273	broad.mit.edu	37	X	135289240	135289240	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135289240C>A	uc004ezo.2	+	c.222C>A	c.(220-222)CCC>CCA	p.P74P	FHL1_uc010nrz.2_Silent_p.P74P|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Silent_p.P74P|FHL1_uc004ezq.2_Silent_p.P74P|FHL1_uc011mvy.1_Silent_p.P74P|FHL1_uc011mvz.1_Silent_p.P74P|FHL1_uc004ezn.2_Silent_p.P74P|FHL1_uc011mwa.1_Silent_p.P103P|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Silent_p.P90P|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	74	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.314286	57.312037	59.467712	22	48	KEEP	---	---	---	---	capture		Silent	SNP	135289240	135289240	6116	23	C	A	A	A	301	24	FHL1	2	2
SLITRK2	84631	broad.mit.edu	37	X	144904080	144904080	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904080G>C	uc004fcd.2	+	c.137G>C	c.(136-138)TGT>TCT	p.C46S	SLITRK2_uc010nsp.2_Missense_Mutation_p.C46S|SLITRK2_uc010nso.2_Missense_Mutation_p.C46S|SLITRK2_uc011mwq.1_Missense_Mutation_p.C46S|SLITRK2_uc011mwr.1_Missense_Mutation_p.C46S|SLITRK2_uc011mws.1_Missense_Mutation_p.C46S|SLITRK2_uc004fcg.2_Missense_Mutation_p.C46S|SLITRK2_uc011mwt.1_Missense_Mutation_p.C46S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	46	Extracellular (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.285714	30.640833	32.079729	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144904080	144904080	15241	23	G	C	C	C	624	48	SLITRK2	3	3
SLITRK2	84631	broad.mit.edu	37	X	144904888	144904888	+	Silent	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904888G>T	uc004fcd.2	+	c.945G>T	c.(943-945)GTG>GTT	p.V315V	SLITRK2_uc010nsp.2_Silent_p.V315V|SLITRK2_uc010nso.2_Silent_p.V315V|SLITRK2_uc011mwq.1_Silent_p.V315V|SLITRK2_uc011mwr.1_Silent_p.V315V|SLITRK2_uc011mws.1_Silent_p.V315V|SLITRK2_uc004fcg.2_Silent_p.V315V|SLITRK2_uc011mwt.1_Silent_p.V315V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	315	Extracellular (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.15625	8.983972	12.569502	5	27	KEEP	---	---	---	---	capture		Silent	SNP	144904888	144904888	15241	23	G	T	T	T	574	45	SLITRK2	2	2
ATP2B3	492	broad.mit.edu	37	X	152813361	152813361	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152813361G>T	uc004fht.1	+	c.1027G>T	c.(1027-1029)GAG>TAG	p.E343*	ATP2B3_uc004fhs.1_Nonsense_Mutation_p.E343*	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	343	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.28	15.15178	16.289515	7	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152813361	152813361	1160	23	G	T	T	T	533	41	ATP2B3	5	2
DCAF8L1	139425	broad.mit.edu	37	X	27998072	27998072	+	Silent	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27998072C>A	uc004dbx.1	-	c.1380G>T	c.(1378-1380)GGG>GGT	p.G460G		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	460	WD 6.									ovary(3)	3														0.315789	14.935925	15.513631	6	13	KEEP	---	---	---	---	capture		Silent	SNP	27998072	27998072	4448	23	C	A	A	A	327	26	DCAF8L1	2	2
DMD	1756	broad.mit.edu	37	X	32632455	32632455	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32632455G>T	uc004dda.1	-	c.1447C>A	c.(1447-1449)CTT>ATT	p.L483I	DMD_uc004dcz.2_Missense_Mutation_p.L360I|DMD_uc004dcy.1_Missense_Mutation_p.L479I|DMD_uc004ddb.1_Missense_Mutation_p.L475I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L475I|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	483	Spectrin 2.				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)												0.423077	29.257661	29.404066	11	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32632455	32632455	4760	23	G	T	T	T	429	33	DMD	2	2
DMD	1756	broad.mit.edu	37	X	32663190	32663190	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32663190G>T	uc004dda.1	-	c.1040C>A	c.(1039-1041)GCT>GAT	p.A347D	DMD_uc004dcz.2_Missense_Mutation_p.A224D|DMD_uc004dcy.1_Missense_Mutation_p.A343D|DMD_uc004ddb.1_Missense_Mutation_p.A339D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.A339D|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.A58D	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	347	Spectrin 1.				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)												0.416667	91.1364	91.573071	30	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32663190	32663190	4760	23	G	T	T	T	442	34	DMD	2	2
CASK	8573	broad.mit.edu	37	X	41519762	41519762	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41519762C>A	uc004dfl.3	-	c.761G>T	c.(760-762)CGT>CTT	p.R254L	CASK_uc004dfk.3_Missense_Mutation_p.R69L|CASK_uc004dfm.3_Missense_Mutation_p.R254L|CASK_uc004dfn.3_Missense_Mutation_p.R254L	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	254	Protein kinase.				cell adhesion|protein phosphorylation	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						NSCLC(42;104 1086 3090 27189 35040)				254				0.166667	6.613884	8.509716	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41519762	41519762	2784	23	C	A	A	A	247	19	CASK	1	1
CASK	8573	broad.mit.edu	37	X	41519769	41519769	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41519769G>C	uc004dfl.3	-	c.754C>G	c.(754-756)CTA>GTA	p.L252V	CASK_uc004dfk.3_Missense_Mutation_p.L67V|CASK_uc004dfm.3_Missense_Mutation_p.L252V|CASK_uc004dfn.3_Missense_Mutation_p.L252V	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	252	Protein kinase.				cell adhesion|protein phosphorylation	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						NSCLC(42;104 1086 3090 27189 35040)				254				0.166667	5.514056	7.4102	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41519769	41519769	2784	23	G	C	C	C	451	35	CASK	3	3
HEPH	9843	broad.mit.edu	37	X	65423352	65423352	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65423352G>A	uc011moz.1	+	c.2233G>A	c.(2233-2235)GTA>ATA	p.V745I	HEPH_uc004dwn.2_Missense_Mutation_p.V745I|HEPH_uc004dwo.2_Missense_Mutation_p.V475I|HEPH_uc010nkr.2_Missense_Mutation_p.V553I|HEPH_uc011mpa.1_Missense_Mutation_p.V745I|HEPH_uc010nks.2_Missense_Mutation_p.V34I	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	742	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.2	9.590141	11.262962	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65423352	65423352	7337	23	G	A	A	A	468	36	HEPH	2	2
HDX	139324	broad.mit.edu	37	X	83724066	83724066	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83724066A>G	uc004eek.1	-	c.665T>C	c.(664-666)ATT>ACT	p.I222T	HDX_uc011mqv.1_Missense_Mutation_p.I222T|HDX_uc004eel.1_Missense_Mutation_p.I164T	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	222					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						Pancreas(53;231 1169 36156 43751 51139)								0.240506	54.789372	59.640446	19	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83724066	83724066	7309	23	A	G	G	G	52	4	HDX	4	4
OR8I2	120586	broad.mit.edu	37	11	55861360	55861360	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55861360_55861360delG	uc010rix.1	+	c.577_577delG	c.(577-579)GGCfs	p.G193fs		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)													0.39			55	87		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	55861360	55861360	11651	11	G	-	-	-	507	39	OR8I2	5	5
ZNF404	342908	broad.mit.edu	37	19	44384237	44384237	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44384237_44384237delC	uc002oxs.3	-	c.52_52delG	c.(52-54)GAAfs	p.E18fs		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.47			89	99		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	44384237	44384237	18479	19	C	-	-	-	390	30	ZNF404	5	5
OR2T11	127077	broad.mit.edu	37	1	248789739	248789740	+	Frame_Shift_Ins	INS	-	A	A			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248789739_248789740insA	uc001ier.1	-	c.690_691insT	c.(688-693)GGTCGCfs	p.G230fs		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	230_231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.32			11	23		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	248789739	248789740	11424	1	-	A	A	A	481	37	OR2T11	5	5
DEFB123	245936	broad.mit.edu	37	20	30037939	30037939	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30037939_30037939delC	uc002wvy.2	+	c.166_166delC	c.(166-168)CCCfs	p.P56fs		NM_153324	NP_697019	Q8N688	DB123_HUMAN	defensin, beta 123 precursor	56					defense response to bacterium	extracellular region					0	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)											0.40			61	92		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	30037939	30037939	4586	20	C	-	-	-	338	26	DEFB123	5	5
TRANK1	9881	broad.mit.edu	37	3	36875088	36875094	+	Frame_Shift_Del	DEL	CGGCCCC	-	-			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36875088_36875094delCGGCCCC	uc003cgj.2	-	c.4198_4204delGGGGCCG	c.(4198-4206)GGGGCCGCCfs	p.G1400fs		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1950_1952					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2														0.35			6	11		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	36875088	36875094	16998	3	CGGCCCC	-	-	-	351	27	TRANK1	5	5
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	-	-			TCGA-05-5425-01	TCGA-05-5425-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107956280_107956282delGCC	uc003prx.2	+	c.2232_2234delGCC	c.(2230-2235)CAGCCG>CAG	p.P751del		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	751	Pro-rich.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)										0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	107956280	107956282	15412	6	GCC	-	-	-	438	34	SOBP	5	5
