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
C10orf2	56652	broad.mit.edu	37	10	102749166	102749166	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102749166G>T	uc001ksf.2	+	c.1199G>T	c.(1198-1200)CGT>CTT	p.R400L	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.R400L|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	400	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)										0.138298	22.608988	34.512118	13	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102749166	102749166	1634	10	G	T	T	T	520	40	C10orf2	1	1
GFRA1	2674	broad.mit.edu	37	10	117885020	117885020	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117885020C>T	uc001lcj.2	-	c.482G>A	c.(481-483)TGC>TAC	p.C161Y	GFRA1_uc001lci.2_Missense_Mutation_p.C156Y|GFRA1_uc009xyr.2_Missense_Mutation_p.C156Y	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	161	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell line-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		Ovarian(128;329 1725 45498 46808 50759)								0.285714	21.233752	22.360924	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117885020	117885020	6615	10	C	T	T	T	325	25	GFRA1	2	2
C10orf82	143379	broad.mit.edu	37	10	118424327	118424327	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118424327C>T	uc001lcr.2	-	c.406G>A	c.(406-408)GAC>AAC	p.D136N	C10orf82_uc001lcs.1_3'UTR	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	hypothetical protein LOC143379	136											0				all cancers(201;0.0143)										0.275	206.166589	218.864354	77	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118424327	118424327	1657	10	C	T	T	T	390	30	C10orf82	2	2
C10orf120	399814	broad.mit.edu	37	10	124457744	124457744	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124457744C>G	uc001lgn.2	-	c.513G>C	c.(511-513)ATG>ATC	p.M171I		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	171										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)												0.180258	109.351069	131.713904	42	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124457744	124457744	1625	10	C	G	G	G	377	29	C10orf120	3	3
ANKRD26	22852	broad.mit.edu	37	10	27322273	27322273	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27322273C>T	uc009xku.1	-	c.3688G>A	c.(3688-3690)GAT>AAT	p.D1230N	ANKRD26_uc001itg.2_Missense_Mutation_p.D916N|ANKRD26_uc001ith.2_Missense_Mutation_p.D1229N	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1229	Potential.									large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4														0.247619	132.088328	144.266218	52	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27322273	27322273	659	10	C	T	T	T	377	29	ANKRD26	2	2
MKX	283078	broad.mit.edu	37	10	28024265	28024265	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:28024265C>A	uc001ity.3	-	c.387G>T	c.(385-387)AAG>AAT	p.K129N	MKX_uc001itx.3_Missense_Mutation_p.K129N	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	129	Homeobox; TALE-type.				muscle organ development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.299213	102.207887	106.779271	38	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28024265	28024265	10000	10	C	A	A	A	415	32	MKX	2	2
SVIL	6840	broad.mit.edu	37	10	29820203	29820203	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:29820203G>A	uc001iut.1	-	c.2024C>T	c.(2023-2025)TCA>TTA	p.S675L	SVIL_uc001iuu.1_Missense_Mutation_p.S281L	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	675					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.13198	39.12367	65.040097	26	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29820203	29820203	15941	10	G	A	A	A	585	45	SVIL	2	2
MAP3K8	1326	broad.mit.edu	37	10	30748380	30748380	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30748380G>A	uc001ivi.1	+	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H	MAP3K8_uc009xlf.1_Missense_Mutation_p.R408H|MAP3K8_uc001ivj.1_Missense_Mutation_p.R408H	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	408			CQSLDSALLERKRLLSRK -> GHQVIHEGSSTNDPNNSC (in oncogenic form).		cell cycle|protein phosphorylation|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)								197				0.057971	-5.428192	8.681307	4	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30748380	30748380	9639	10	G	A	A	A	494	38	MAP3K8	1	1
ZNF239	8187	broad.mit.edu	37	10	44052872	44052872	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:44052872C>A	uc001jaw.3	-	c.656G>T	c.(655-657)AGC>ATC	p.S219I	ZNF239_uc001jax.3_Missense_Mutation_p.S219I|ZNF239_uc009xmj.2_Missense_Mutation_p.S219I|ZNF239_uc009xmk.2_Missense_Mutation_p.S219I	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	219	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0														0.080214	-0.574782	32.993804	15	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44052872	44052872	18382	10	C	A	A	A	364	28	ZNF239	2	2
A1CF	29974	broad.mit.edu	37	10	52566490	52566490	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:52566490C>T	uc010qho.1	-	c.1808G>A	c.(1807-1809)TGA>TAA	p.*603*	A1CF_uc010qhn.1_Silent_p.*595*|A1CF_uc001jji.2_Silent_p.*587*|A1CF_uc001jjj.2_Silent_p.*595*|A1CF_uc001jjh.2_Silent_p.*595*|A1CF_uc009xov.2_Silent_p.*587*	NM_138933	NP_620311	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 3	603					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1														0.111111	14.38688	31.885099	13	104	KEEP	---	---	---	---	capture		Silent	SNP	52566490	52566490	2	10	C	T	T	T	376	29	A1CF	2	2
A1CF	29974	broad.mit.edu	37	10	52566514	52566514	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:52566514C>T	uc010qho.1	-	c.1784G>A	c.(1783-1785)CGA>CAA	p.R595Q	A1CF_uc010qhn.1_Missense_Mutation_p.R587Q|A1CF_uc001jji.2_Missense_Mutation_p.R579Q|A1CF_uc001jjj.2_Missense_Mutation_p.R587Q|A1CF_uc001jjh.2_Missense_Mutation_p.R587Q|A1CF_uc009xov.2_Missense_Mutation_p.R579Q	NM_138933	NP_620311	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 3	587					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1														0.09434	8.899861	35.191854	15	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52566514	52566514	2	10	C	T	T	T	403	31	A1CF	1	1
PCDH15	65217	broad.mit.edu	37	10	56106178	56106178	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:56106178C>T	uc010qhy.1	-	c.556G>A	c.(556-558)GAT>AAT	p.D186N	PCDH15_uc010qhq.1_Missense_Mutation_p.D186N|PCDH15_uc010qhr.1_Missense_Mutation_p.D181N|PCDH15_uc010qhs.1_Missense_Mutation_p.D186N|PCDH15_uc010qht.1_Missense_Mutation_p.D181N|PCDH15_uc010qhu.1_Missense_Mutation_p.D181N|PCDH15_uc001jjv.1_Missense_Mutation_p.D159N|PCDH15_uc010qhv.1_Missense_Mutation_p.D181N|PCDH15_uc010qhw.1_Missense_Mutation_p.D181N|PCDH15_uc010qhx.1_Missense_Mutation_p.D181N|PCDH15_uc010qhz.1_Missense_Mutation_p.D181N|PCDH15_uc010qia.1_Missense_Mutation_p.D159N|PCDH15_uc001jju.1_Missense_Mutation_p.D181N|PCDH15_uc010qib.1_Missense_Mutation_p.D159N|PCDH15_uc001jjw.2_Missense_Mutation_p.D181N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	181	Extracellular (Potential).|Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.126168	35.965482	65.171114	27	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56106178	56106178	11931	10	C	T	T	T	377	29	PCDH15	2	2
NDST2	8509	broad.mit.edu	37	10	75566094	75566094	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75566094G>A	uc001jvk.2	-	c.1387C>T	c.(1387-1389)CTC>TTC	p.L463F	NDST2_uc010qks.1_Missense_Mutation_p.L89F|NDST2_uc010qkt.1_Missense_Mutation_p.L340F|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.L89F|NDST2_uc010qku.1_Missense_Mutation_p.L338F	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	463	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)													0.166667	34.84073	46.185357	18	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75566094	75566094	10655	10	G	A	A	A	429	33	NDST2	2	2
CDHR1	92211	broad.mit.edu	37	10	85965669	85965669	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85965669G>A	uc001kcv.2	+	c.949G>A	c.(949-951)GAG>AAG	p.E317K	CDHR1_uc001kcw.2_Missense_Mutation_p.E317K|CDHR1_uc009xst.2_Missense_Mutation_p.E76K	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	317	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1												OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.16	5.178392	7.941079	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85965669	85965669	3247	10	G	A	A	A	585	45	CDHR1	2	2
GRID1	2894	broad.mit.edu	37	10	87482852	87482852	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:87482852G>A	uc001kdl.1	-	c.1905C>T	c.(1903-1905)GGC>GGT	p.G635G	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.G206G	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	635	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|large_intestine(2)	7					L-Glutamic Acid(DB00142)						Multiple Myeloma(13;0.14)			0.210526	23.516151	27.903131	12	45	KEEP	---	---	---	---	capture		Silent	SNP	87482852	87482852	7049	10	G	A	A	A	587	46	GRID1	2	2
KIF20B	9585	broad.mit.edu	37	10	91498223	91498223	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91498223C>T	uc001kgs.1	+	c.3625C>T	c.(3625-3627)CAG>TAG	p.Q1209*	KIF20B_uc001kgr.1_Nonsense_Mutation_p.Q1169*|KIF20B_uc001kgt.1_Nonsense_Mutation_p.Q420*|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1209					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.214953	54.36168	62.390889	23	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	91498223	91498223	8598	10	C	T	T	T	377	29	KIF20B	5	2
MYOF	26509	broad.mit.edu	37	10	95072853	95072853	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95072853G>C	uc001kin.2	-	c.5813C>G	c.(5812-5814)GCC>GGC	p.A1938G	MYOF_uc001kio.2_Missense_Mutation_p.A1925G|MYOF_uc009xue.2_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1938	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.158879	147.272401	194.699732	68	360	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95072853	95072853	10484	10	G	C	C	C	546	42	MYOF	3	3
TM9SF3	56889	broad.mit.edu	37	10	98307731	98307731	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98307731G>A	uc001kmm.3	-	c.975C>T	c.(973-975)CTC>CTT	p.L325L	TM9SF3_uc010qot.1_Silent_p.L325L|TM9SF3_uc001kmn.1_Silent_p.L94L	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	325						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)										0.151042	55.572449	77.950066	29	163	KEEP	---	---	---	---	capture		Silent	SNP	98307731	98307731	16509	10	G	A	A	A	574	45	TM9SF3	2	2
NPAT	4863	broad.mit.edu	37	11	108059914	108059914	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108059914G>A	uc001pjz.3	-	c.475C>T	c.(475-477)CGA>TGA	p.R159*	NPAT_uc001pka.2_5'UTR	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	159	Interaction with MIZF.				regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)						345				0.166667	61.183514	79.499437	29	145	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108059914	108059914	10970	11	G	A	A	A	480	37	NPAT	5	1
C11orf87	399947	broad.mit.edu	37	11	109294448	109294448	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:109294448G>T	uc001pkn.2	+	c.89G>T	c.(88-90)AGC>ATC	p.S30I	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	30	Extracellular (Potential).					integral to membrane				ovary(2)	2														0.351351	36.461021	37.183359	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109294448	109294448	1709	11	G	T	T	T	442	34	C11orf87	2	2
PIH1D2	120379	broad.mit.edu	37	11	111938705	111938705	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111938705C>G	uc001pmq.3	-	c.838G>C	c.(838-840)GAG>CAG	p.E280Q	PIH1D2_uc009yyl.2_Intron|PIH1D2_uc001pmp.3_Missense_Mutation_p.E280Q	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2 isoform 1	280										ovary(1)	1		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)										0.211268	42.48728	47.95893	15	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111938705	111938705	12331	11	C	G	G	G	377	29	PIH1D2	3	3
ZBTB16	7704	broad.mit.edu	37	11	114121118	114121118	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114121118G>T	uc001pop.2	+	c.1863G>T	c.(1861-1863)CTG>CTT	p.L621L	ZBTB16_uc001poq.2_Silent_p.L621L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	621	C2H2-type 8.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|specific transcriptional repressor activity|zinc ion binding			central_nervous_system(1)	1		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)						489				0.116711	45.711761	100.248639	44	333	KEEP	---	---	---	---	capture		Silent	SNP	114121118	114121118	18112	11	G	T	T	T	574	45	ZBTB16	2	2
C2CD2L	9854	broad.mit.edu	37	11	118980898	118980898	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118980898G>A	uc001pvn.2	+	c.439G>A	c.(439-441)GAG>AAG	p.E147K	DPAGT1_uc010ryz.1_5'Flank|C2CD2L_uc001pvo.2_Missense_Mutation_p.E147K	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	147						integral to membrane					0														0.232394	78.093611	87.414101	33	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118980898	118980898	2236	11	G	A	A	A	585	45	C2CD2L	2	2
OR6X1	390260	broad.mit.edu	37	11	123624576	123624576	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123624576G>C	uc010rzy.1	-	c.651C>G	c.(649-651)ATC>ATG	p.I217M		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	217	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)										0.181452	109.693814	133.405447	45	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123624576	123624576	11623	11	G	C	C	C	421	33	OR6X1	3	3
OR8D4	338662	broad.mit.edu	37	11	123777198	123777198	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123777198A>T	uc010saa.1	+	c.60A>T	c.(58-60)CAA>CAT	p.Q20H		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)										0.122172	34.519508	65.377894	27	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123777198	123777198	11644	11	A	T	T	T	37	3	OR8D4	3	3
OR6T1	219874	broad.mit.edu	37	11	123814447	123814447	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123814447C>A	uc010sab.1	-	c.99G>T	c.(97-99)GTG>GTT	p.V33V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)										0.28	107.654085	114.206049	42	108	KEEP	---	---	---	---	capture		Silent	SNP	123814447	123814447	11621	11	C	A	A	A	366	29	OR6T1	2	2
ESAM	90952	broad.mit.edu	37	11	124628319	124628319	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124628319C>G	uc001qav.3	-	c.175G>C	c.(175-177)GAG>CAG	p.E59Q	ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_5'Flank|ESAM_uc001qaw.3_Non-coding_Transcript|ESAM_uc001qax.3_Non-coding_Transcript|ESAM_uc009zbi.2_Missense_Mutation_p.E59Q	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	59	Extracellular (Potential).|Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)								OREG0021463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.113636	7.744538	14.221379	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124628319	124628319	5440	11	C	G	G	G	390	30	ESAM	3	3
ROBO4	54538	broad.mit.edu	37	11	124764190	124764190	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124764190C>T	uc001qbg.2	-	c.1225G>A	c.(1225-1227)GCC>ACC	p.A409T	ROBO4_uc010sas.1_Missense_Mutation_p.A264T|ROBO4_uc001qbh.2_Missense_Mutation_p.A299T|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'UTR	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	409	Fibronectin type-III 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)										0.164384	21.661667	29.465588	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124764190	124764190	13995	11	C	T	T	T	351	27	ROBO4	1	1
PKNOX2	63876	broad.mit.edu	37	11	125301229	125301229	+	Nonsense_Mutation	SNP	G	T	T	rs71474144		TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125301229G>T	uc001qbu.2	+	c.1360G>T	c.(1360-1362)GAG>TAG	p.E454*	PKNOX2_uc010saz.1_Nonsense_Mutation_p.E425*|PKNOX2_uc010sba.1_Nonsense_Mutation_p.E425*|PKNOX2_uc010sbb.1_Nonsense_Mutation_p.E390*|PKNOX2_uc001qbv.2_Nonsense_Mutation_p.E219*	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	454	Asp/Glu-rich (acidic).					nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)										0.244094	77.819511	85.360739	31	96	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125301229	125301229	12408	11	G	T	T	T	481	37	PKNOX2	5	1
NTM	50863	broad.mit.edu	37	11	132177677	132177677	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132177677G>T	uc010sci.1	+	c.621G>T	c.(619-621)GTG>GTT	p.V207V	NTM_uc001qgm.2_Silent_p.V207V|NTM_uc010sch.1_Silent_p.V198V|NTM_uc010scj.1_Silent_p.V166V|NTM_uc001qgo.2_Silent_p.V207V|NTM_uc001qgq.2_Silent_p.V207V|NTM_uc001qgp.2_Silent_p.V207V|NTM_uc001qgr.2_5'UTR	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	207	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5														0.22093	46.3806	52.545457	19	67	KEEP	---	---	---	---	capture		Silent	SNP	132177677	132177677	11104	11	G	T	T	T	600	47	NTM	2	2
IGSF9B	22997	broad.mit.edu	37	11	133795691	133795691	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:133795691C>T	uc001qgx.3	-	c.1977G>A	c.(1975-1977)TTG>TTA	p.L659L	IGSF9B_uc001qgy.1_Silent_p.L501L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	659	Fibronectin type-III 2.|Extracellular (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)										0.325	34.404961	35.469677	13	27	KEEP	---	---	---	---	capture		Silent	SNP	133795691	133795691	7907	11	C	T	T	T	324	25	IGSF9B	2	2
CALCB	797	broad.mit.edu	37	11	15096643	15096643	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15096643C>A	uc001mlx.1	+	c.123C>A	c.(121-123)CTC>CTA	p.L41L	CALCB_uc009ygr.1_Silent_p.L41L	NM_000728	NP_000719	P10092	CALCB_HUMAN	calcitonin-related polypeptide, beta precursor	41					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity				0												OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.383784	200.470923	202.663754	71	114	KEEP	---	---	---	---	capture		Silent	SNP	15096643	15096643	2692	11	C	A	A	A	366	29	CALCB	2	2
MRGPRX2	117194	broad.mit.edu	37	11	19077037	19077037	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:19077037G>T	uc001mph.2	-	c.913C>A	c.(913-915)CAG>AAG	p.Q305K		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	305	Cytoplasmic (Potential).				sensory perception of pain|sleep	integral to membrane|plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GBM(198;1966 2199 4849 37227 49954)								0.126316	35.362549	61.258544	24	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19077037	19077037	10160	11	G	T	T	T	598	46	MRGPRX2	2	2
KIF18A	81930	broad.mit.edu	37	11	28090868	28090868	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:28090868T>A	uc001msc.2	-	c.1528A>T	c.(1528-1530)AAT>TAT	p.N510Y		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	510					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2														0.37037	83.418993	84.61853	30	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28090868	28090868	8591	11	T	A	A	A	793	61	KIF18A	3	3
PAX6	5080	broad.mit.edu	37	11	31823248	31823248	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31823248C>A	uc001mtg.3	-	c.260G>T	c.(259-261)GGT>GTT	p.G87V	PAX6_uc001mtd.3_Missense_Mutation_p.G73V|PAX6_uc001mte.3_Missense_Mutation_p.G73V|PAX6_uc001mtf.3_Missense_Mutation_p.G73V|PAX6_uc001mth.3_Missense_Mutation_p.G73V|PAX6_uc009yjr.2_Missense_Mutation_p.G73V	NM_001604	NP_001595	P26367	PAX6_HUMAN	paired box gene 6 isoform b	73	Paired.		G -> D (in AN; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild- type protein).		central nervous system development|eye development|gene-specific transcription from RNA polymerase II promoter|negative regulation of neurogenesis|neuron fate commitment|organ morphogenesis|pancreatic A cell development|positive regulation of gene expression|regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription activator activity|ubiquitin-protein ligase activity			ovary(2)|pancreas(1)	3	Lung SC(675;0.225)													0.168317	30.933059	41.448968	17	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31823248	31823248	11903	11	C	A	A	A	234	18	PAX6	2	2
CCDC73	493860	broad.mit.edu	37	11	32635665	32635665	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32635665C>T	uc001mtv.2	-	c.2199G>A	c.(2197-2199)ATG>ATA	p.M733I		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	733										ovary(1)	1	Breast(20;0.112)													0.098684	8.006639	32.503995	15	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32635665	32635665	2969	11	C	T	T	T	221	17	CCDC73	2	2
FNBP4	23360	broad.mit.edu	37	11	47767698	47767698	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47767698C>T	uc009ylv.2	-	c.1155G>A	c.(1153-1155)GAG>GAA	p.E385E	FNBP4_uc001ngj.2_Silent_p.E292E|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	385										ovary(1)	1														0.125761	96.185171	163.630422	62	431	KEEP	---	---	---	---	capture		Silent	SNP	47767698	47767698	6209	11	C	T	T	T	311	24	FNBP4	2	2
OR4S2	219431	broad.mit.edu	37	11	55419180	55419180	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55419180G>C	uc001nhs.1	+	c.801G>C	c.(799-801)AAG>AAC	p.K267N		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.230637	380.447391	419.083085	134	447	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55419180	55419180	11493	11	G	C	C	C	425	33	OR4S2	3	3
OR5D14	219436	broad.mit.edu	37	11	55563770	55563770	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563770C>A	uc010rim.1	+	c.739C>A	c.(739-741)CTG>ATG	p.L247M		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.065421	-6.36033	14.619481	7	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55563770	55563770	11565	11	C	A	A	A	311	24	OR5D14	2	2
OR5I1	10798	broad.mit.edu	37	11	55703185	55703185	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55703185C>G	uc010ris.1	-	c.692G>C	c.(691-693)CGC>CCC	p.R231P		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.145161	19.436472	26.942582	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55703185	55703185	11574	11	C	G	G	G	351	27	OR5I1	3	3
OR5F1	338674	broad.mit.edu	37	11	55761919	55761919	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55761919G>C	uc010riv.1	-	c.183C>G	c.(181-183)TTC>TTG	p.F61L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	61	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)													0.081633	4.779693	30.983563	12	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55761919	55761919	11568	11	G	C	C	C	425	33	OR5F1	3	3
OR8J1	219477	broad.mit.edu	37	11	56128652	56128652	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56128652C>A	uc010rjh.1	+	c.930C>A	c.(928-930)TGC>TGA	p.C310*		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.318519	116.956862	120.920224	43	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56128652	56128652	11652	11	C	A	A	A	363	28	OR8J1	5	2
OR4D10	390197	broad.mit.edu	37	11	59244952	59244952	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59244952T>C	uc001nnz.1	+	c.50T>C	c.(49-51)CTG>CCG	p.L17P		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.282609	112.150234	118.022627	39	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59244952	59244952	11461	11	T	C	C	C	715	55	OR4D10	4	4
ZP1	22917	broad.mit.edu	37	11	60641198	60641198	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60641198G>T	uc001nqd.2	+	c.1522G>T	c.(1522-1524)GCT>TCT	p.A508S	ZP1_uc001nqe.2_Missense_Mutation_p.A215S	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	508	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0														0.121951	13.339005	24.777452	10	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60641198	60641198	18819	11	G	T	T	T	598	46	ZP1	2	2
ASRGL1	80150	broad.mit.edu	37	11	62105605	62105605	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62105605C>A	uc001nte.3	+	c.156C>A	c.(154-156)GTC>GTA	p.V52V	ASRGL1_uc001ntf.3_Silent_p.V52V|ASRGL1_uc001ntg.3_5'UTR	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	52					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)									0.2	10.690264	12.362815	4	16	KEEP	---	---	---	---	capture		Silent	SNP	62105605	62105605	1079	11	C	A	A	A	392	31	ASRGL1	1	1
AHNAK	79026	broad.mit.edu	37	11	62289498	62289498	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62289498T>C	uc001ntl.2	-	c.12391A>G	c.(12391-12393)ATG>GTG	p.M4131V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4131					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.140777	58.74045	84.400793	29	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62289498	62289498	417	11	T	C	C	C	637	49	AHNAK	4	4
C11orf48	79081	broad.mit.edu	37	11	62437203	62437203	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62437203G>A	uc001nue.2	-	c.223C>T	c.(223-225)CTC>TTC	p.L75F	C11orf48_uc001nuf.2_Missense_Mutation_p.L75F|C11orf48_uc010rmd.1_Missense_Mutation_p.L75F|C11orf83_uc001nui.3_5'Flank	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	hypothetical protein LOC79081	101											0														0.141935	36.038889	55.21026	22	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62437203	62437203	1683	11	G	A	A	A	429	33	C11orf48	2	2
SLC22A10	387775	broad.mit.edu	37	11	63058004	63058004	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63058004G>A	uc009yor.2	+	c.367G>A	c.(367-369)GAT>AAT	p.D123N	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.D71N	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	123	Extracellular (Potential).				transmembrane transport	integral to membrane	transporter activity			ovary(2)	2														0.321429	175.351772	180.905446	63	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63058004	63058004	14937	11	G	A	A	A	585	45	SLC22A10	2	2
MACROD1	28992	broad.mit.edu	37	11	63767231	63767231	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63767231G>T	uc001nyh.2	-	c.669C>A	c.(667-669)GTC>GTA	p.V223V		NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	223	Macro.										0														0.4	29.272542	29.482072	10	15	KEEP	---	---	---	---	capture		Silent	SNP	63767231	63767231	9522	11	G	T	T	T	574	45	MACROD1	2	2
TBX10	347853	broad.mit.edu	37	11	67401814	67401814	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67401814G>A	uc001omp.2	-	c.395C>T	c.(394-396)TCG>TTG	p.S132L		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	132	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.4	10.996233	11.08406	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67401814	67401814	16177	11	G	A	A	A	481	37	TBX10	1	1
SUV420H1	51111	broad.mit.edu	37	11	67941312	67941312	+	Silent	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67941312T>A	uc001onm.1	-	c.612A>T	c.(610-612)TCA>TCT	p.S204S	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Silent_p.S32S|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Silent_p.S204S|SUV420H1_uc001onp.2_Silent_p.S204S|SUV420H1_uc010rqa.1_Silent_p.S181S|SUV420H1_uc001onq.2_Silent_p.S204S	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	204	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3														0.318182	67.054284	68.992137	21	45	KEEP	---	---	---	---	capture		Silent	SNP	67941312	67941312	15934	11	T	A	A	A	652	51	SUV420H1	3	3
CAPN5	726	broad.mit.edu	37	11	76823721	76823721	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76823721C>T	uc009yup.2	+	c.504C>T	c.(502-504)TTC>TTT	p.F168F	CAPN5_uc001oxx.2_Silent_p.F128F|CAPN5_uc009yuq.2_Silent_p.F164F|CAPN5_uc001oxy.2_Silent_p.F168F	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	128	Calpain catalytic.			FGEW -> LGM (in Ref. 1; AAC51869).	proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0														0.129032	17.079297	29.512043	12	81	KEEP	---	---	---	---	capture		Silent	SNP	76823721	76823721	2747	11	C	T	T	T	402	31	CAPN5	1	1
RSF1	51773	broad.mit.edu	37	11	77378100	77378100	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77378100G>C	uc001oyn.2	-	c.4188C>G	c.(4186-4188)GAC>GAG	p.D1396E	RSF1_uc001oym.2_Missense_Mutation_p.D1144E	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1396					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)											0.090643	28.891013	86.672241	31	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77378100	77378100	14179	11	G	C	C	C	620	48	RSF1	3	3
CNTN5	53942	broad.mit.edu	37	11	99827588	99827588	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:99827588G>C	uc001pga.2	+	c.724G>C	c.(724-726)GAC>CAC	p.D242H	CNTN5_uc009ywv.1_Missense_Mutation_p.D242H|CNTN5_uc001pfz.2_Missense_Mutation_p.D242H|CNTN5_uc001pgb.2_Missense_Mutation_p.D168H	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	242	Ig-like C2-type 2.				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				0.1	16.417683	37.209274	13	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99827588	99827588	3782	11	G	C	C	C	429	33	CNTN5	3	3
ANKS1B	56899	broad.mit.edu	37	12	100169438	100169438	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100169438C>A	uc001tge.1	-	c.849G>T	c.(847-849)GAG>GAT	p.E283D	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.E249D	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	283						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.4	57.185197	57.623793	20	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100169438	100169438	697	12	C	A	A	A	259	20	ANKS1B	2	2
NOS1	4842	broad.mit.edu	37	12	117768312	117768312	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117768312G>A	uc001twm.1	-	c.563C>T	c.(562-564)GCG>GTG	p.A188V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	188	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.122642	13.601377	28.390991	13	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117768312	117768312	10944	12	G	A	A	A	494	38	NOS1	1	1
RNF10	9921	broad.mit.edu	37	12	120984337	120984337	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120984337C>T	uc001typ.3	+	c.287C>T	c.(286-288)CCT>CTT	p.P96L	RNF10_uc010szk.1_Non-coding_Transcript|RNF10_uc001tyq.3_Missense_Mutation_p.P2L	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	96	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	promoter binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.46729	167.244951	167.344214	50	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120984337	120984337	13899	12	C	T	T	T	312	24	RNF10	2	2
STX2	2054	broad.mit.edu	37	12	131283117	131283117	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:131283117T>C	uc001uio.2	-	c.739A>G	c.(739-741)AAA>GAA	p.K247E	STX2_uc001uip.2_Missense_Mutation_p.K247E|STX2_uc010tbj.1_Missense_Mutation_p.K247E	NM_194356	NP_919337	P32856	STX2_HUMAN	syntaxin 2 isoform 2	247	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)										0.462121	219.945756	220.111843	61	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131283117	131283117	15865	12	T	C	C	C	793	61	STX2	4	4
MGP	4256	broad.mit.edu	37	12	15035930	15035930	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:15035930C>G	uc001rcn.1	-	c.146G>C	c.(145-147)AGA>ACA	p.R49T		NM_000900	NP_000891	P08493	MGP_HUMAN	matrix Gla protein precursor	49					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			ovary(1)	1														0.15142	112.879082	149.776699	48	269	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15035930	15035930	9948	12	C	G	G	G	416	32	MGP	3	3
SLCO1B1	10599	broad.mit.edu	37	12	21392104	21392104	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21392104A>C	uc001req.3	+	c.2057A>C	c.(2056-2058)GAT>GCT	p.D686A		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	686	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)									0.427027	263.666184	264.529401	79	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21392104	21392104	15220	12	A	C	C	C	156	12	SLCO1B1	4	4
KCNJ8	3764	broad.mit.edu	37	12	21919520	21919520	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21919520G>C	uc001rff.2	-	c.412C>G	c.(412-414)CAA>GAA	p.Q138E		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	138						voltage-gated potassium channel complex					0					Levosimendan(DB00922)									0.101852	16.441815	33.512405	11	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21919520	21919520	8361	12	G	C	C	C	585	45	KCNJ8	3	3
LRRK2	120892	broad.mit.edu	37	12	40713922	40713922	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40713922G>A	uc001rmg.3	+	c.4960G>A	c.(4960-4962)GAA>AAA	p.E1654K	LRRK2_uc009zjw.2_Missense_Mutation_p.E492K|LRRK2_uc001rmi.2_Missense_Mutation_p.E487K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1654					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771		OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.130435	23.550877	38.824599	15	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40713922	40713922	9409	12	G	A	A	A	429	33	LRRK2	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43822330	43822330	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43822330G>C	uc010skx.1	-	c.3659C>G	c.(3658-3660)TCA>TGA	p.S1220*	ADAMTS20_uc001rno.1_Nonsense_Mutation_p.S338*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.S374*	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1220	TSP type-1 8.					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				0.18	21.94341	26.759721	9	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43822330	43822330	267	12	G	C	C	C	585	45	ADAMTS20	5	3
ARID2	196528	broad.mit.edu	37	12	46244727	46244727	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46244727C>A	uc001ros.1	+	c.2821C>A	c.(2821-2823)CCA>ACA	p.P941T	ARID2_uc001ror.2_Missense_Mutation_p.P941T|ARID2_uc009zkg.1_Missense_Mutation_p.P397T|ARID2_uc009zkh.1_Missense_Mutation_p.P568T|ARID2_uc001rou.1_Missense_Mutation_p.P275T	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	941	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(1)	7	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)										0.100877	20.79464	57.01517	23	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46244727	46244727	930	12	C	A	A	A	234	18	ARID2	2	2
TMEM106C	79022	broad.mit.edu	37	12	48360468	48360468	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48360468G>A	uc001rqp.2	+	c.555G>A	c.(553-555)GTG>GTA	p.V185V	TMEM106C_uc001rqo.2_Silent_p.V166V|TMEM106C_uc001rqr.2_Silent_p.V185V|TMEM106C_uc001rqq.2_Silent_p.V166V	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	185						endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)										0.262887	128.905415	138.802161	51	143	KEEP	---	---	---	---	capture		Silent	SNP	48360468	48360468	16552	12	G	A	A	A	574	45	TMEM106C	2	2
MLL2	8085	broad.mit.edu	37	12	49438022	49438022	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49438022G>A	uc001rta.3	-	c.5149C>T	c.(5149-5151)CAG>TAG	p.Q1717*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1717					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29												OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.192982	22.392052	27.409717	11	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49438022	49438022	10011	12	G	A	A	A	624	48	MLL2	5	2
DIP2B	57609	broad.mit.edu	37	12	51126161	51126161	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51126161A>C	uc001rwv.2	+	c.3823A>C	c.(3823-3825)AAC>CAC	p.N1275H	DIP2B_uc009zlt.2_Missense_Mutation_p.N705H	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1275						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6														0.268966	113.060766	120.047334	39	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51126161	51126161	4707	12	A	C	C	C	65	5	DIP2B	4	4
HOXC6	3223	broad.mit.edu	37	12	54423644	54423644	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54423644C>T	uc001sev.2	+	c.606C>T	c.(604-606)CTC>CTT	p.L202L	HOXC6_uc001ses.2_Silent_p.L120L|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	202					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(2)	2														0.34375	55.322094	56.706148	22	42	KEEP	---	---	---	---	capture		Silent	SNP	54423644	54423644	7607	12	C	T	T	T	366	29	HOXC6	2	2
KIAA0748	9840	broad.mit.edu	37	12	55368344	55368344	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55368344C>A	uc001sgn.3	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I	KIAA0748_uc001sgl.3_5'Flank|KIAA0748_uc001sgm.3_5'Flank|KIAA0748_uc010spb.1_5'Flank|KIAA0748_uc010spc.1_5'Flank|KIAA0748_uc010spd.1_Missense_Mutation_p.M1I|KIAA0748_uc001sgo.3_Non-coding_Transcript	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	1										ovary(1)|central_nervous_system(1)	2														0.357143	14.470466	14.722398	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55368344	55368344	8497	12	C	A	A	A	273	21	KIAA0748	2	2
DDIT3	1649	broad.mit.edu	37	12	57910625	57910625	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57910625C>G	uc009zps.2	-	c.546G>C	c.(544-546)CTG>CTC	p.L182L	MARS_uc001sof.1_Intron|DDIT3_uc001soi.2_Silent_p.L159L|DDIT3_uc009zpt.2_Silent_p.L182L	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	159					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	670						GBM(112;1383 1547 7626 23045 28770)				27				0.164234	112.602135	141.929395	45	229	KEEP	---	---	---	---	capture		Silent	SNP	57910625	57910625	4501	12	C	G	G	G	366	29	DDIT3	3	3
LRIG3	121227	broad.mit.edu	37	12	59271635	59271635	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:59271635C>G	uc001sqr.2	-	c.2084_splice	c.e15-1	p.E695_splice	LRIG3_uc009zqh.2_Splice_Site_SNP_p.E635_splice|LRIG3_uc010ssh.1_Splice_Site_SNP	NM_153377	NP_700356			leucine-rich repeats and immunoglobulin-like							integral to membrane				ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.17e-18)											0.22973	49.134976	54.091018	17	57	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	59271635	59271635	9319	12	C	G	G	G	416	32	LRIG3	5	3
CD163L1	283316	broad.mit.edu	37	12	7527343	7527343	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7527343C>T	uc010sge.1	-	c.3134G>A	c.(3133-3135)CGG>CAG	p.R1045Q	CD163L1_uc001qsy.2_Missense_Mutation_p.R1035Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1035	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9												OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.440678	77.831209	78.01347	26	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7527343	7527343	3095	12	C	T	T	T	299	23	CD163L1	1	1
PLXNC1	10154	broad.mit.edu	37	12	94620960	94620960	+	Silent	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:94620960A>T	uc001tdc.2	+	c.1929A>T	c.(1927-1929)GGA>GGT	p.G643G		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	643	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3														0.278195	99.520561	105.406564	37	96	KEEP	---	---	---	---	capture		Silent	SNP	94620960	94620960	12552	12	A	T	T	T	132	11	PLXNC1	3	3
WNK1	65125	broad.mit.edu	37	12	980452	980452	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:980452C>T	uc001qio.3	+	c.2161C>T	c.(2161-2163)CAG>TAG	p.Q721*	WNK1_uc001qip.3_Nonsense_Mutation_p.Q721*|WNK1_uc001qir.3_Intron	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	721					intracellular protein kinase cascade|ion transport|neuron development|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			ovary(5)|breast(4)|large_intestine(1)|lung(1)|central_nervous_system(1)	12	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			Colon(19;451 567 6672 12618 28860)				913				0.414894	113.593095	114.190145	39	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	980452	980452	17951	12	C	T	T	T	377	29	WNK1	5	2
LIG4	3981	broad.mit.edu	37	13	108860946	108860946	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:108860946C>T	uc001vqn.2	-	c.2671G>A	c.(2671-2673)GAA>AAA	p.E891K	LIG4_uc001vqo.2_Missense_Mutation_p.E891K|LIG4_uc010agg.1_Missense_Mutation_p.E824K|LIG4_uc010agf.2_Missense_Mutation_p.E891K|LIG4_uc001vqp.2_Missense_Mutation_p.E891K	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	891	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)													0.153846	9.920956	14.394556	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108860946	108860946	9109	13	C	T	T	T	416	32	LIG4	2	2
TMCO3	55002	broad.mit.edu	37	13	114157899	114157899	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114157899G>T	uc001vtu.3	+	c.1034G>T	c.(1033-1035)AGA>ATA	p.R345I	TMCO3_uc001vtt.3_Missense_Mutation_p.R345I	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	345						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)											0.294574	96.676279	101.563373	38	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114157899	114157899	16527	13	G	T	T	T	429	33	TMCO3	2	2
SGCG	6445	broad.mit.edu	37	13	23808791	23808791	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:23808791C>T	uc001uom.2	+	c.237C>T	c.(235-237)CGC>CGT	p.R79R	SGCG_uc009zzv.2_Silent_p.R79R|SGCG_uc009zzw.2_Silent_p.R79R	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	79	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)										0.177215	83.349118	106.581526	42	195	KEEP	---	---	---	---	capture		Silent	SNP	23808791	23808791	14694	13	C	T	T	T	353	28	SGCG	2	2
LNX2	222484	broad.mit.edu	37	13	28122551	28122551	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28122551G>A	uc001url.3	-	c.1994C>T	c.(1993-1995)TCT>TTT	p.S665F		NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	665	PDZ 4.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)						288				0.245614	35.722708	39.081359	14	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28122551	28122551	9195	13	G	A	A	A	429	33	LNX2	2	2
FLT1	2321	broad.mit.edu	37	13	28896409	28896409	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28896409G>A	uc001usb.3	-	c.3041C>T	c.(3040-3042)TCT>TTT	p.S1014F	FLT1_uc010aap.2_Missense_Mutation_p.S19F|FLT1_uc010aaq.2_Missense_Mutation_p.S139F|FLT1_uc001usa.3_Missense_Mutation_p.S232F	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1014	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.106061	15.156494	35.497766	14	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28896409	28896409	6183	13	G	A	A	A	429	33	FLT1	2	2
FLT1	2321	broad.mit.edu	37	13	28903844	28903844	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28903844T>A	uc001usb.3	-	c.2615A>T	c.(2614-2616)TAC>TTC	p.Y872F	FLT1_uc010aaq.2_5'UTR|FLT1_uc001usa.3_Missense_Mutation_p.Y90F	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	872	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.1	3.573692	9.963307	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28903844	28903844	6183	13	T	A	A	A	741	57	FLT1	3	3
BRCA2	675	broad.mit.edu	37	13	32913437	32913437	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32913437A>G	uc001uub.1	+	c.4945A>G	c.(4945-4947)AAA>GAA	p.K1649E		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1649					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.4	50.844274	51.150086	14	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32913437	32913437	1530	13	A	G	G	G	13	1	BRCA2	4	4
MAB21L1	4081	broad.mit.edu	37	13	36049557	36049557	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36049557C>A	uc001uvc.2	-	c.719G>T	c.(718-720)AGA>ATA	p.R240I	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	240					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)										0.352	120.155427	122.573346	44	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36049557	36049557	9518	13	C	A	A	A	416	32	MAB21L1	2	2
ZC3H13	23091	broad.mit.edu	37	13	46584555	46584555	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46584555G>C	uc010tfw.1	-	c.674C>G	c.(673-675)CCG>CGG	p.P225R	ZC3H13_uc001vas.1_Missense_Mutation_p.P225R|ZC3H13_uc001vat.1_Missense_Mutation_p.P225R	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	225	Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.336245	233.607803	239.03863	77	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46584555	46584555	18153	13	G	C	C	C	507	39	ZC3H13	3	3
KCNRG	283518	broad.mit.edu	37	13	50589843	50589843	+	Silent	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:50589843T>C	uc001vdu.2	+	c.214T>C	c.(214-216)TTA>CTA	p.L72L	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.L72L|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	72	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)										0.183761	104.398163	126.353938	43	191	KEEP	---	---	---	---	capture		Silent	SNP	50589843	50589843	8392	13	T	C	C	C	673	52	KCNRG	4	4
PCDH9	5101	broad.mit.edu	37	13	67800888	67800889	+	Missense_Mutation	DNP	AC	CA	CA			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67800888_67800889AC>CA	uc001vik.2	-	c.1684_1685GT>TG	c.(1684-1686)GTT>TGT	p.V562C	PCDH9_uc001vil.2_Missense_Mutation_p.V562C|PCDH9_uc010thl.1_Missense_Mutation_p.V562C|PCDH9_uc001vin.3_Missense_Mutation_p.V562C	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	562	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.087805	7.54622	42.787206	18	187	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	67800888	67800889	11938	13	AC	CA	CA	CA	26	2	PCDH9	4	4
HS6ST3	266722	broad.mit.edu	37	13	97484854	97484854	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:97484854G>A	uc001vmw.2	+	c.818G>A	c.(817-819)GGA>GAA	p.G273E		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	273	Lumenal (Potential).				carbohydrate biosynthetic process	integral to membrane	sulfotransferase activity			ovary(1)	1	all_neural(89;0.0878)|Medulloblastoma(90;0.163)													0.29703	81.156283	84.850893	30	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97484854	97484854	7666	13	G	A	A	A	533	41	HS6ST3	2	2
HS6ST3	266722	broad.mit.edu	37	13	97485409	97485409	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:97485409G>A	uc001vmw.2	+	c.1373G>A	c.(1372-1374)GGG>GAG	p.G458E		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	458	Lumenal (Potential).				carbohydrate biosynthetic process	integral to membrane	sulfotransferase activity			ovary(1)	1	all_neural(89;0.0878)|Medulloblastoma(90;0.163)													0.328125	58.851835	60.52904	21	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97485409	97485409	7666	13	G	A	A	A	559	43	HS6ST3	2	2
MARK3	4140	broad.mit.edu	37	14	103871486	103871486	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:103871486C>G	uc001ymz.3	+	c.125C>G	c.(124-126)TCT>TGT	p.S42C	MARK3_uc001ymx.3_Missense_Mutation_p.S42C|MARK3_uc001ymw.3_Missense_Mutation_p.S42C|MARK3_uc001yna.3_Missense_Mutation_p.S42C|MARK3_uc001ymy.3_Missense_Mutation_p.S42C|MARK3_uc010awp.2_Missense_Mutation_p.S42C	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	42					protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)	2		Melanoma(154;0.155)	Epithelial(46;0.241)						p.S42F(CI1-Tumor)	260				0.120482	48.170186	83.416338	30	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103871486	103871486	9697	14	C	G	G	G	416	32	MARK3	3	3
TTC5	91875	broad.mit.edu	37	14	20767521	20767521	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20767521G>A	uc001vwt.2	-	c.483C>T	c.(481-483)GTC>GTT	p.V161V	TTC5_uc001vwu.2_Silent_p.V18V	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	161					DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)										0.156863	55.366203	78.291085	32	172	KEEP	---	---	---	---	capture		Silent	SNP	20767521	20767521	17266	14	G	A	A	A	574	45	TTC5	2	2
TEP1	7011	broad.mit.edu	37	14	20850472	20850472	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20850472A>T	uc001vxe.2	-	c.4184T>A	c.(4183-4185)CTG>CAG	p.L1395Q	TEP1_uc010ahk.2_Missense_Mutation_p.L738Q|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.L1287Q|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1395	NACHT.				telomere maintenance via recombination|telomere maintenance via telomerase	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)										0.185185	30.474727	38.004878	15	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20850472	20850472	16286	14	A	T	T	T	91	7	TEP1	3	3
SLC7A8	23428	broad.mit.edu	37	14	23598916	23598916	+	Silent	SNP	C	A	A	rs35143650		TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23598916C>A	uc001wiz.2	-	c.1206G>T	c.(1204-1206)ACG>ACT	p.T402T	SLC7A8_uc001wiw.2_Silent_p.T19T|SLC7A8_uc001wix.2_Silent_p.T199T|SLC7A8_uc010tnk.1_Silent_p.T178T|SLC7A8_uc010tnl.1_Silent_p.T297T|SLC7A8_uc001wiy.2_Non-coding_Transcript|SLC7A8_uc010akj.2_Intron	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	402	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)									0.168116	238.086996	310.220725	116	574	KEEP	---	---	---	---	capture		Silent	SNP	23598916	23598916	15201	14	C	A	A	A	288	23	SLC7A8	1	1
RIPK3	11035	broad.mit.edu	37	14	24805446	24805446	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24805446C>T	uc001wpb.2	-	c.1492G>A	c.(1492-1494)GAA>AAA	p.E498K	ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.E298K|RIPK3_uc010alq.2_Non-coding_Transcript|RIPK3_uc010toi.1_Missense_Mutation_p.E277K	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	498					apoptosis|induction of apoptosis by extracellular signals|protein phosphorylation	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		Pancreas(58;918 1191 4668 13304 15331)				120				0.10989	10.382187	24.09114	10	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24805446	24805446	13859	14	C	T	T	T	416	32	RIPK3	2	2
RPL10L	140801	broad.mit.edu	37	14	47120689	47120689	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47120689C>A	uc001wwg.2	-	c.251G>T	c.(250-252)GGC>GTC	p.G84V		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	84					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1														0.414141	113.269249	113.901711	41	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47120689	47120689	14035	14	C	A	A	A	338	26	RPL10L	2	2
GPR68	8111	broad.mit.edu	37	14	91700939	91700939	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91700939G>T	uc001xzh.2	-	c.486C>A	c.(484-486)ACC>ACA	p.T162T	GPR68_uc001xzg.2_Silent_p.T152T	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	152	Helical; Name=4; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)										0.317073	35.665645	36.88302	13	28	KEEP	---	---	---	---	capture		Silent	SNP	91700939	91700939	6982	14	G	T	T	T	600	47	GPR68	2	2
ASB2	51676	broad.mit.edu	37	14	94401096	94401096	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94401096C>T	uc001ycd.2	-	c.1814G>A	c.(1813-1815)CGA>CAA	p.R605Q	ASB2_uc001ycb.1_Missense_Mutation_p.R251Q|ASB2_uc001ycc.1_Missense_Mutation_p.R557Q	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	557	SOCS box.				intracellular signal transduction					pancreas(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)										0.272727	58.144179	61.727039	21	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94401096	94401096	1041	14	C	T	T	T	403	31	ASB2	1	1
OR4N4	283694	broad.mit.edu	37	15	22382687	22382687	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22382687C>T	uc001yuc.1	+	c.215C>T	c.(214-216)TCC>TTC	p.S72F	LOC727924_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.1_Missense_Mutation_p.S72F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.02673	-127.928035	29.360799	17	619	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22382687	22382687	11488	15	C	T	T	T	390	30	OR4N4	2	2
NDN	4692	broad.mit.edu	37	15	23931653	23931653	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23931653C>A	uc001ywk.2	-	c.712G>T	c.(712-714)GAG>TAG	p.E238*		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	238	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										0.123077	8.775268	17.796438	8	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23931653	23931653	10646	15	C	A	A	A	390	30	NDN	5	2
HERC2	8924	broad.mit.edu	37	15	28375358	28375358	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28375358G>A	uc001zbj.2	-	c.12753C>T	c.(12751-12753)GTC>GTT	p.V4251V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4251	WD 6.|RCC1 18.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.172269	70.104161	94.317654	41	197	KEEP	---	---	---	---	capture		Silent	SNP	28375358	28375358	7341	15	G	A	A	A	574	45	HERC2	2	2
RYR3	6263	broad.mit.edu	37	15	33831598	33831598	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33831598G>A	uc001zhi.2	+	c.481G>A	c.(481-483)GAA>AAA	p.E161K	RYR3_uc010bar.2_Missense_Mutation_p.E161K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	161	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)										0.130435	4.409588	7.46511	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33831598	33831598	14250	15	G	A	A	A	481	37	RYR3	1	1
C15orf29	79768	broad.mit.edu	37	15	34455870	34455870	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34455870G>A	uc001zhp.2	-	c.8C>T	c.(7-9)TCA>TTA	p.S3L	C15orf29_uc010ubz.1_Intron|C15orf29_uc010uca.1_Missense_Mutation_p.S3L	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768	3						nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)										0.144928	16.515947	24.877276	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34455870	34455870	1839	15	G	A	A	A	585	45	C15orf29	2	2
UBR1	197131	broad.mit.edu	37	15	43313527	43313527	+	Silent	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43313527G>C	uc001zqq.2	-	c.2886C>G	c.(2884-2886)CTC>CTG	p.L962L	UBR1_uc010udk.1_Silent_p.L962L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	962						cytosol	zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)										0.129771	33.88198	51.356198	17	114	KEEP	---	---	---	---	capture		Silent	SNP	43313527	43313527	17459	15	G	C	C	C	574	45	UBR1	3	3
DUOX1	53905	broad.mit.edu	37	15	45426448	45426448	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45426448C>G	uc001zus.1	+	c.248C>G	c.(247-249)TCA>TGA	p.S83*	DUOX1_uc001zut.1_Nonsense_Mutation_p.S83*|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	83	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|breast(1)	6		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)										0.23913	32.6015	35.459651	11	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45426448	45426448	4985	15	C	G	G	G	377	29	DUOX1	5	3
SLC12A1	6557	broad.mit.edu	37	15	48500035	48500035	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48500035C>A	uc001zwn.3	+	c.119C>A	c.(118-120)ACT>AAT	p.T40N	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.T40N|SLC12A1_uc010uex.1_Missense_Mutation_p.T40N	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	40	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.322581	55.784648	57.514261	20	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48500035	48500035	14877	15	C	A	A	A	260	20	SLC12A1	2	2
SLC12A1	6557	broad.mit.edu	37	15	48500163	48500163	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48500163G>A	uc001zwn.3	+	c.247G>A	c.(247-249)GAT>AAT	p.D83N	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.D83N|SLC12A1_uc010uex.1_Missense_Mutation_p.D83N	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	83	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.1875	45.797186	56.054647	21	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48500163	48500163	14877	15	G	A	A	A	429	33	SLC12A1	2	2
FBN1	2200	broad.mit.edu	37	15	48756110	48756110	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48756110C>T	uc001zwx.1	-	c.5051G>A	c.(5050-5052)GGA>GAA	p.G1684E	FBN1_uc010beo.1_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1684	EGF-like 28; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)						2933				0.153846	22.060804	30.987921	12	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48756110	48756110	5938	15	C	T	T	T	390	30	FBN1	2	2
MAPK6	5597	broad.mit.edu	37	15	52350895	52350895	+	Missense_Mutation	SNP	C	A	A	rs1049605		TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52350895C>A	uc002abp.2	+	c.766C>A	c.(766-768)CGT>AGT	p.R256S		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	256	Protein kinase.				cell cycle|protein phosphorylation		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)						309				0.222222	37.678609	42.779984	16	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52350895	52350895	9664	15	C	A	A	A	403	31	MAPK6	1	1
MYO5A	4644	broad.mit.edu	37	15	52611478	52611478	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52611478C>T	uc002aby.2	-	c.4938G>A	c.(4936-4938)TTG>TTA	p.L1646L	MYO5A_uc002abx.3_Silent_p.L1619L|MYO5A_uc010ugd.1_Silent_p.L368L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1646	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)										0.122093	24.881705	48.91735	21	151	KEEP	---	---	---	---	capture		Silent	SNP	52611478	52611478	10473	15	C	T	T	T	376	29	MYO5A	2	2
UNC13C	440279	broad.mit.edu	37	15	54556378	54556378	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54556378A>T	uc002ack.2	+	c.3461A>T	c.(3460-3462)AAG>ATG	p.K1154M	UNC13C_uc002acl.2_De_novo_Start_InFrame	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1154					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.333333	20.617855	21.13454	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54556378	54556378	17544	15	A	T	T	T	39	3	UNC13C	3	3
PRTG	283659	broad.mit.edu	37	15	55970089	55970089	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:55970089G>T	uc002adg.2	-	c.1287C>A	c.(1285-1287)ACC>ACA	p.T429T	PRTG_uc002adh.2_5'Flank	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	429	Fibronectin type-III 1.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)	2				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)										0.141593	24.062438	38.071619	16	97	KEEP	---	---	---	---	capture		Silent	SNP	55970089	55970089	13089	15	G	T	T	T	600	47	PRTG	2	2
FAM63B	54629	broad.mit.edu	37	15	59064338	59064338	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59064338C>T	uc002afj.2	+	c.744C>T	c.(742-744)ATC>ATT	p.I248I	FAM63B_uc002afi.2_Silent_p.I248I|FAM63B_uc002afk.2_Non-coding_Transcript|FAM63B_uc002afl.2_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	248										central_nervous_system(1)	1														0.125	9.218005	15.810489	6	42	KEEP	---	---	---	---	capture		Silent	SNP	59064338	59064338	5820	15	C	T	T	T	382	30	FAM63B	2	2
TLN2	83660	broad.mit.edu	37	15	63055813	63055813	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63055813C>T	uc002alb.3	+	c.5013C>T	c.(5011-5013)AAC>AAT	p.N1671N	TLN2_uc002alc.3_Silent_p.N64N|TLN2_uc002ald.2_Silent_p.N64N	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1671					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.212963	53.482765	61.69274	23	85	KEEP	---	---	---	---	capture		Silent	SNP	63055813	63055813	16478	15	C	T	T	T	233	18	TLN2	2	2
ISLR	3671	broad.mit.edu	37	15	74468360	74468360	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74468360C>G	uc002axg.1	+	c.1161C>G	c.(1159-1161)ATC>ATG	p.I387M	ISLR_uc002axh.1_Missense_Mutation_p.I387M	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	387					cell adhesion	extracellular region				large_intestine(1)|ovary(1)	2														0.077419	6.400581	34.692193	12	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74468360	74468360	8162	15	C	G	G	G	369	29	ISLR	3	3
MESDC2	23184	broad.mit.edu	37	15	81271612	81271612	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81271612G>A	uc002bfy.1	-	c.653C>T	c.(652-654)TCT>TTT	p.S218F	MESDC2_uc002bfx.2_Non-coding_Transcript|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	218					mesoderm development|Wnt receptor signaling pathway	endoplasmic reticulum					0														0.211055	98.232805	113.606416	42	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81271612	81271612	9870	15	G	A	A	A	429	33	MESDC2	2	2
ZNF774	342132	broad.mit.edu	37	15	90903722	90903722	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90903722C>G	uc002bpk.3	+	c.659C>G	c.(658-660)TCA>TGA	p.S220*		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	220	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)											0.421053	210.446416	211.298194	64	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	90903722	90903722	18745	15	C	G	G	G	377	29	ZNF774	5	3
RSL1D1	26156	broad.mit.edu	37	16	11931800	11931800	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:11931800C>A	uc002dbp.1	-	c.1317G>T	c.(1315-1317)GTG>GTT	p.V439V	RSL1D1_uc010buv.1_Silent_p.V438V|RSL1D1_uc010uyw.1_Silent_p.V219V	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	439					regulation of protein localization|RNA processing|translation	nucleolus|ribosome	protein binding|RNA binding|structural constituent of ribosome				0														0.381579	665.260026	672.768043	232	376	KEEP	---	---	---	---	capture		Silent	SNP	11931800	11931800	14180	16	C	A	A	A	366	29	RSL1D1	2	2
GPR139	124274	broad.mit.edu	37	16	20043222	20043222	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20043222C>A	uc002dgu.1	-	c.897G>T	c.(895-897)ACG>ACT	p.T299T	GPR139_uc010vaw.1_Silent_p.T206T	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	299	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2														0.196532	69.242845	84.037838	34	139	KEEP	---	---	---	---	capture		Silent	SNP	20043222	20043222	6922	16	C	A	A	A	340	27	GPR139	1	1
UQCRC2	7385	broad.mit.edu	37	16	21968624	21968624	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21968624A>T	uc002djx.2	+	c.102A>T	c.(100-102)CAA>CAT	p.Q34H	UQCRC2_uc002djy.2_Missense_Mutation_p.Q34H|UQCRC2_uc010bxa.2_Non-coding_Transcript	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	34					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		Colon(123;450 1645 12841 25393 45623)								0.364706	86.504868	87.871999	31	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21968624	21968624	17581	16	A	T	T	T	24	2	UQCRC2	3	3
ZKSCAN2	342357	broad.mit.edu	37	16	25255481	25255481	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:25255481C>T	uc002dod.3	-	c.1606G>A	c.(1606-1608)GAA>AAA	p.E536K	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.E332K	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	536					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)										0.113208	10.61316	26.289333	12	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25255481	25255481	18278	16	C	T	T	T	377	29	ZKSCAN2	2	2
NLRC3	197358	broad.mit.edu	37	16	3606914	3606914	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3606914C>T	uc010btn.2	-	c.2181G>A	c.(2179-2181)CTG>CTA	p.L727L	NLRC3_uc010bto.1_5'UTR	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	727	LRR 5.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6														0.52381	35.725283	35.735608	11	10	KEEP	---	---	---	---	capture		Silent	SNP	3606914	3606914	10871	16	C	T	T	T	366	29	NLRC3	2	2
ORC6L	23594	broad.mit.edu	37	16	46729493	46729493	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46729493G>C	uc002eeh.2	+	c.469G>C	c.(469-471)GAT>CAT	p.D157H	ORC6L_uc010cbe.1_Missense_Mutation_p.D108H	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	157					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding				0		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)												0.108108	5.884698	11.506528	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46729493	46729493	11677	16	G	C	C	C	533	41	ORC6L	3	3
NOD2	64127	broad.mit.edu	37	16	50745444	50745444	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50745444G>T	uc002egm.1	+	c.1622G>T	c.(1621-1623)CGG>CTG	p.R541L	NOD2_uc010cbk.1_Missense_Mutation_p.R514L|NOD2_uc002egl.1_Missense_Mutation_p.R319L|NOD2_uc010cbl.1_Missense_Mutation_p.R319L|NOD2_uc010cbm.1_Missense_Mutation_p.R319L|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	541	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.157895	21.366516	29.839749	12	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50745444	50745444	10920	16	G	T	T	T	507	39	NOD2	1	1
CDH11	1009	broad.mit.edu	37	16	65032487	65032487	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:65032487G>T	uc002eoi.2	-	c.501C>A	c.(499-501)AAC>AAA	p.N167K	CDH11_uc010cdn.2_Non-coding_Transcript|CDH11_uc002eoj.2_Missense_Mutation_p.N167K|CDH11_uc010vin.1_Missense_Mutation_p.N41K|CDH11_uc010vio.1_Missense_Mutation_p.N167K	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	167	Cadherin 2.|Extracellular (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)			0.159453	140.156737	188.6801	70	369	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65032487	65032487	3226	16	G	T	T	T	516	40	CDH11	1	1
PRMT7	54496	broad.mit.edu	37	16	68379639	68379639	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68379639G>C	uc002evy.1	+	c.989G>C	c.(988-990)GGC>GCC	p.G330A	PRMT7_uc002evx.1_Missense_Mutation_p.G330A|PRMT7_uc010vlg.1_Missense_Mutation_p.G280A|PRMT7_uc002evz.1_Missense_Mutation_p.G176A	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	330					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of protein binding|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone binding|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)										0.132653	44.673253	70.147854	26	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68379639	68379639	12984	16	G	C	C	C	546	42	PRMT7	3	3
PMFBP1	83449	broad.mit.edu	37	16	72174463	72174463	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72174463C>T	uc002fcc.3	-	c.655G>A	c.(655-657)GAT>AAT	p.D219N	PMFBP1_uc002fcd.2_Missense_Mutation_p.D219N|PMFBP1_uc002fce.2_Non-coding_Transcript|PMFBP1_uc002fcf.2_Missense_Mutation_p.D74N	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	219										ovary(1)	1		Ovarian(137;0.179)												0.201923	178.350313	212.712204	84	332	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72174463	72174463	12560	16	C	T	T	T	377	29	PMFBP1	2	2
FANCA	2175	broad.mit.edu	37	16	89858345	89858345	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89858345C>A	uc002fou.1	-	c.1215G>T	c.(1213-1215)CAG>CAT	p.Q405H	FANCA_uc010vpn.1_Missense_Mutation_p.Q405H	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	405					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)						1099				0.414634	48.056447	48.319471	17	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89858345	89858345	5898	16	C	A	A	A	363	28	FANCA	2	2
MYH8	4626	broad.mit.edu	37	17	10303934	10303934	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10303934G>A	uc002gmm.2	-	c.3508C>T	c.(3508-3510)CGG>TGG	p.R1170W		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1170	Potential.				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														0.123967	36.240783	69.679323	30	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10303934	10303934	10436	17	G	A	A	A	493	38	MYH8	1	1
MYH4	4622	broad.mit.edu	37	17	10362640	10362640	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10362640C>T	uc002gmn.2	-	c.1515G>A	c.(1513-1515)AAG>AAA	p.K505K		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	505	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.474048	437.54192	437.712028	137	152	KEEP	---	---	---	---	capture		Silent	SNP	10362640	10362640	10432	17	C	T	T	T	415	32	MYH4	2	2
DNAH9	1770	broad.mit.edu	37	17	11671874	11671874	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11671874G>C	uc002gne.2	+	c.7275G>C	c.(7273-7275)GAG>GAC	p.E2425D	DNAH9_uc010coo.2_Missense_Mutation_p.E1719D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2425					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)										0.492063	337.372345	337.382709	93	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11671874	11671874	4791	17	G	C	C	C	425	33	DNAH9	3	3
ELAC2	60528	broad.mit.edu	37	17	12905673	12905673	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12905673C>T	uc002gnz.3	-	c.1222G>A	c.(1222-1224)GAG>AAG	p.E408K	ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Missense_Mutation_p.E36K|ELAC2_uc002gnw.3_Missense_Mutation_p.E66K|ELAC2_uc002gnx.3_Missense_Mutation_p.E168K|ELAC2_uc010vvo.1_Missense_Mutation_p.E206K|ELAC2_uc010vvp.1_Missense_Mutation_p.E389K|ELAC2_uc010vvq.1_Missense_Mutation_p.E407K|ELAC2_uc010vvr.1_Missense_Mutation_p.E368K	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	408					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0														0.102273	8.205631	21.996484	9	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12905673	12905673	5238	17	C	T	T	T	390	30	ELAC2	2	2
TAOK1	57551	broad.mit.edu	37	17	27802714	27802714	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27802714C>A	uc002hdz.1	+	c.231C>A	c.(229-231)GTC>GTA	p.V77V	TAOK1_uc010wbe.1_Silent_p.V77V|TAOK1_uc010wbf.1_Silent_p.V77V	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	77	Protein kinase.				mitotic prometaphase|protein phosphorylation	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)							290				0.111111	6.309234	14.385018	6	48	KEEP	---	---	---	---	capture		Silent	SNP	27802714	27802714	16068	17	C	A	A	A	366	29	TAOK1	2	2
ZNF207	7756	broad.mit.edu	37	17	30689982	30689982	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30689982C>G	uc002hhj.3	+	c.649C>G	c.(649-651)CTG>GTG	p.L217V	ZNF207_uc002hhh.3_Missense_Mutation_p.L201V|ZNF207_uc002hhi.3_Missense_Mutation_p.L217V|ZNF207_uc010csz.2_Missense_Mutation_p.L220V|ZNF207_uc002hhk.1_Missense_Mutation_p.L217V|ZNF207_uc002hhl.1_Non-coding_Transcript	NM_001098507	NP_001091977	O43670	ZN207_HUMAN	zinc finger protein 207 isoform c	201					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)											0.109244	16.180039	34.19027	13	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30689982	30689982	18356	17	C	G	G	G	415	32	ZNF207	3	3
TMEM98	26022	broad.mit.edu	37	17	31267870	31267870	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31267870G>T	uc002hhq.2	+	c.540G>T	c.(538-540)ACG>ACT	p.T180T	TMEM98_uc002hhr.2_Silent_p.T180T	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	180						endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)											0.232558	160.320853	180.082732	70	231	KEEP	---	---	---	---	capture		Silent	SNP	31267870	31267870	16765	17	G	T	T	T	496	39	TMEM98	1	1
CCL13	6357	broad.mit.edu	37	17	32685069	32685069	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32685069G>T	uc002hic.2	+	c.216G>T	c.(214-216)GAG>GAT	p.E72D		NM_005408	NP_005399	Q99616	CCL13_HUMAN	small inducible cytokine A13 precursor	72					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)												0.469027	161.662194	161.756866	53	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32685069	32685069	3009	17	G	T	T	T	425	33	CCL13	2	2
MLLT6	4302	broad.mit.edu	37	17	36863738	36863738	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36863738G>A	uc002hqi.3	+	c.190_splice	c.e3-1	p.R64_splice	MLLT6_uc010wdr.1_Splice_Site_SNP_p.R64_splice|MLLT6_uc010cvm.1_Splice_Site_SNP_p.R64_splice	NM_005937	NP_005928			myeloid/lymphoid or mixed-lineage leukemia						regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			skin(1)	1	Breast(7;4.43e-21)									439				0.4375	112.90966	113.181958	35	45	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	36863738	36863738	10020	17	G	A	A	A	429	33	MLLT6	5	2
PCGF2	7703	broad.mit.edu	37	17	36896596	36896596	+	Silent	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36896596G>C	uc002hqp.1	-	c.60C>G	c.(58-60)CTC>CTG	p.L20L	PCGF2_uc002hqn.1_Silent_p.L20L|PCGF2_uc002hqo.1_Silent_p.L20L|PCGF2_uc010cvo.1_Intron|PCGF2_uc002hqq.1_Silent_p.L20L	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	20	RING-type.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)													0.255814	101.51883	108.491059	33	96	KEEP	---	---	---	---	capture		Silent	SNP	36896596	36896596	11995	17	G	C	C	C	418	33	PCGF2	3	3
STARD3	10948	broad.mit.edu	37	17	37809961	37809961	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37809961C>T	uc002hsd.2	+	c.177C>T	c.(175-177)TTC>TTT	p.F59F	STARD3_uc010weg.1_Silent_p.F59F|STARD3_uc010weh.1_Non-coding_Transcript|STARD3_uc002hse.2_Silent_p.F59F|STARD3_uc010wei.1_Silent_p.F59F|STARD3_uc002hsf.2_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	59	Helical; (Potential).|MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)							607		OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.137255	12.19074	18.683241	7	44	KEEP	---	---	---	---	capture		Silent	SNP	37809961	37809961	15776	17	C	T	T	T	402	31	STARD3	1	1
MSL1	339287	broad.mit.edu	37	17	38285736	38285736	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38285736C>T	uc002hub.2	+	c.628C>T	c.(628-630)CCC>TCC	p.P210S	MSL1_uc002hua.3_Missense_Mutation_p.P148S|MSL1_uc002huc.2_Missense_Mutation_p.P148S|MSL1_uc002hud.2_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	hampin	411					histone H4-K16 acetylation	MSL complex					0														0.173913	16.98103	21.59021	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38285736	38285736	10270	17	C	T	T	T	390	30	MSL1	2	2
MAPT	4137	broad.mit.edu	37	17	44060805	44060805	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44060805C>T	uc010dau.2	+	c.635C>T	c.(634-636)CCG>CTG	p.P212L	MAPT_uc002ijr.3_Missense_Mutation_p.P212L|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001123066	NP_001116538	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 6	212					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)												0.129032	6.79472	10.934767	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44060805	44060805	9680	17	C	T	T	T	299	23	MAPT	1	1
KIF1C	10749	broad.mit.edu	37	17	4926854	4926854	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4926854G>A	uc002gan.1	+	c.2720G>A	c.(2719-2721)CGC>CAC	p.R907H		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	907					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						Melanoma(96;1023 1447 10250 19259 33730)								0.0625	-4.711092	8.018759	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4926854	4926854	8596	17	G	A	A	A	494	38	KIF1C	1	1
KIF2B	84643	broad.mit.edu	37	17	51901579	51901579	+	Silent	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901579T>C	uc002iua.2	+	c.1185T>C	c.(1183-1185)TGT>TGC	p.C395C		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	395	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														0.333333	143.693544	146.861262	43	86	KEEP	---	---	---	---	capture		Silent	SNP	51901579	51901579	8609	17	T	C	C	C	777	60	KIF2B	4	4
TOM1L1	10040	broad.mit.edu	37	17	52981101	52981101	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:52981101G>C	uc002iud.2	+	c.91G>C	c.(91-93)GAT>CAT	p.D31H	TOM1L1_uc002iub.2_5'UTR|TOM1L1_uc002iuc.2_Missense_Mutation_p.D31H|TOM1L1_uc010dca.1_Missense_Mutation_p.D31H|TOM1L1_uc010wnb.1_Missense_Mutation_p.D31H|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_5'UTR	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	31	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1														0.286585	150.074291	156.764801	47	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52981101	52981101	16893	17	G	C	C	C	429	33	TOM1L1	3	3
CUEDC1	404093	broad.mit.edu	37	17	55950998	55950998	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:55950998G>A	uc002ivd.1	-	c.545C>T	c.(544-546)CCG>CTG	p.P182L	CUEDC1_uc002ive.1_Missense_Mutation_p.P182L	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	182											0														0.300752	117.555296	122.267511	40	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55950998	55950998	4212	17	G	A	A	A	507	39	CUEDC1	1	1
METTL2A	339175	broad.mit.edu	37	17	60504013	60504013	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60504013G>C	uc002izv.2	+	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	METTL2A_uc002izw.2_Missense_Mutation_p.E50Q	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	186							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)											0.16129	10.756089	14.138761	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60504013	60504013	9889	17	G	C	C	C	533	41	METTL2A	3	3
BPTF	2186	broad.mit.edu	37	17	65822348	65822348	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65822348G>A	uc002jgf.2	+	c.508G>A	c.(508-510)GAC>AAC	p.D170N	BPTF_uc002jge.2_Missense_Mutation_p.D170N|BPTF_uc010wqm.1_Missense_Mutation_p.D170N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	170	Glu-rich.|Asp-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)											0.113636	10.091965	23.049885	10	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65822348	65822348	1523	17	G	A	A	A	481	37	BPTF	1	1
BPTF	2186	broad.mit.edu	37	17	65928065	65928065	+	Silent	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65928065G>C	uc002jgf.2	+	c.6189G>C	c.(6187-6189)GTG>GTC	p.V2063V	BPTF_uc002jge.2_Silent_p.V2189V	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2189					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)											0.03876	-17.744543	11.902744	5	124	KEEP	---	---	---	---	capture		Silent	SNP	65928065	65928065	1523	17	G	C	C	C	574	45	BPTF	3	3
NUP85	79902	broad.mit.edu	37	17	73229201	73229201	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73229201C>T	uc002jng.1	+	c.1563C>T	c.(1561-1563)CTC>CTT	p.L521L	NUP85_uc010dgd.1_Silent_p.L476L|NUP85_uc010wrv.1_Silent_p.L475L|NUP85_uc002jnh.1_Silent_p.L124L	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	521					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)											0.085294	0.004587	59.446598	29	311	KEEP	---	---	---	---	capture		Silent	SNP	73229201	73229201	11175	17	C	T	T	T	366	29	NUP85	2	2
KIAA0195	9772	broad.mit.edu	37	17	73481551	73481551	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73481551C>G	uc010wsa.1	+	c.97C>G	c.(97-99)CTC>GTC	p.L33V	KIAA0195_uc002jnz.3_Missense_Mutation_p.L23V	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	23					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.081761	-2.903785	25.405511	13	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73481551	73481551	8467	17	C	G	G	G	312	24	KIAA0195	3	3
PRPSAP1	5635	broad.mit.edu	37	17	74308953	74308953	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74308953C>T	uc010wta.1	-	c.997G>A	c.(997-999)GAG>AAG	p.E333K	PRPSAP1_uc010wtb.1_Missense_Mutation_p.E230K	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	304					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1														0.414894	121.816715	122.408786	39	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74308953	74308953	13024	17	C	T	T	T	403	31	PRPSAP1	1	1
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578455C>G	uc002gim.2	-	c.475G>C	c.(475-477)GCC>CCC	p.A159P	TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.A159P(13)|p.A159T(7)|p.0?(6)|p.A159fs*11(4)|p.A159S(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.A159P(SNU1214-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.575893	437.602726	438.732676	129	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578455	7578455	16923	17	C	G	G	G	351	27	TP53	3	3
P4HB	5034	broad.mit.edu	37	17	79804359	79804359	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79804359C>T	uc002kbn.1	-	c.1002G>A	c.(1000-1002)CTG>CTA	p.L334L	P4HB_uc002kbl.1_Silent_p.L11L|P4HB_uc002kbm.1_Silent_p.L11L	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	334					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			Colon(49;444 983 1296 7887 42561)				156				0.166667	11.125043	14.919917	6	30	KEEP	---	---	---	---	capture		Silent	SNP	79804359	79804359	11772	17	C	T	T	T	366	29	P4HB	2	2
C18orf21	83608	broad.mit.edu	37	18	33557477	33557477	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33557477C>G	uc002kzc.2	+	c.405C>G	c.(403-405)CTC>CTG	p.L135L	C18orf21_uc002kzd.2_Silent_p.L47L	NM_031446	NP_113634	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	135											0														0.106061	33.551657	64.044079	21	177	KEEP	---	---	---	---	capture		Silent	SNP	33557477	33557477	1958	18	C	G	G	G	366	29	C18orf21	3	3
SIGLEC15	284266	broad.mit.edu	37	18	43418689	43418689	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43418689C>T	uc002lbl.1	+	c.503C>T	c.(502-504)CCG>CTG	p.P168L	SIGLEC15_uc010xcp.1_Non-coding_Transcript	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15 precursor	168	Extracellular (Potential).|Ig-like C2-type.					integral to membrane					0														0.363636	12.697151	12.87707	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43418689	43418689	14805	18	C	T	T	T	299	23	SIGLEC15	1	1
CCDC102B	79839	broad.mit.edu	37	18	66678271	66678271	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:66678271A>G	uc002lkk.2	+	c.1364A>G	c.(1363-1365)GAA>GGA	p.E455G	CCDC102B_uc002lki.2_Missense_Mutation_p.E455G	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	455	Potential.									ovary(1)|lung(1)	2		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)												0.208955	35.607532	40.871061	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66678271	66678271	2857	18	A	G	G	G	117	9	CCDC102B	4	4
LAMA1	284217	broad.mit.edu	37	18	7023210	7023210	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7023210C>A	uc002knm.2	-	c.2654G>T	c.(2653-2655)TGT>TTT	p.C885F	LAMA1_uc010wzj.1_Missense_Mutation_p.C361F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	885	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.096774	2.310954	7.353372	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7023210	7023210	8928	18	C	A	A	A	221	17	LAMA1	2	2
LAMA1	284217	broad.mit.edu	37	18	7044832	7044832	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7044832G>T	uc002knm.2	-	c.865C>A	c.(865-867)CAG>AAG	p.Q289K	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	289	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.178344	52.637912	67.933041	28	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7044832	7044832	8928	18	G	T	T	T	598	46	LAMA1	2	2
NFIX	4784	broad.mit.edu	37	19	13186483	13186483	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13186483C>A	uc002mwd.2	+	c.953C>A	c.(952-954)GCA>GAA	p.A318E	NFIX_uc002mwe.2_Missense_Mutation_p.A310E|NFIX_uc002mwf.2_Missense_Mutation_p.A321E|NFIX_uc010xmx.1_Missense_Mutation_p.A326E|NFIX_uc002mwg.1_Missense_Mutation_p.A317E	NM_002501	NP_002492	Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription	318					DNA replication|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)	1			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)											0.153846	4.357784	7.390886	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13186483	13186483	10774	19	C	A	A	A	325	25	NFIX	2	2
ZNF431	170959	broad.mit.edu	37	19	21366647	21366647	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21366647G>C	uc010ecr.2	+	c.1544G>C	c.(1543-1545)TGT>TCT	p.C515S	ZNF431_uc002npp.2_Missense_Mutation_p.C514S|ZNF431_uc010ecq.2_Missense_Mutation_p.C423S	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	514	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2														0.242857	50.740509	54.959484	17	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21366647	21366647	18498	19	G	C	C	C	624	48	ZNF431	3	3
ZNF254	9534	broad.mit.edu	37	19	24289400	24289400	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:24289400G>C	uc002nru.2	+	c.208G>C	c.(208-210)GAG>CAG	p.E70Q	ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_Non-coding_Transcript	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	70	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)												0.123288	28.645053	48.918523	18	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24289400	24289400	18389	19	G	C	C	C	429	33	ZNF254	3	3
ZNF507	22847	broad.mit.edu	37	19	32843758	32843758	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:32843758G>A	uc002nte.2	+	c.22G>A	c.(22-24)GCC>ACC	p.A8T	ZNF507_uc002ntc.2_Missense_Mutation_p.A8T|ZNF507_uc010xrn.1_Missense_Mutation_p.A8T|ZNF507_uc002ntd.2_Missense_Mutation_p.A8T	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	4	Esophageal squamous(110;0.162)													0.402913	237.173286	238.873458	83	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32843758	32843758	18547	19	G	A	A	A	598	46	ZNF507	2	2
WDR62	284403	broad.mit.edu	37	19	36564349	36564349	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36564349C>T	uc002odd.2	+	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I	WDR62_uc002odc.2_Silent_p.I383I|WDR62_uc002odb.2_Silent_p.I383I	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 1	383	WD 5.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)											0.074928	-4.426468	59.924218	26	321	KEEP	---	---	---	---	capture		Silent	SNP	36564349	36564349	17886	19	C	T	T	T	408	32	WDR62	2	2
ZNF382	84911	broad.mit.edu	37	19	37117328	37117328	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37117328G>A	uc002oek.2	+	c.529G>A	c.(529-531)GAG>AAG	p.E177K	ZNF382_uc010efa.2_Missense_Mutation_p.E128K|ZNF382_uc010efb.2_Missense_Mutation_p.E176K|ZNF382_uc002oel.2_Missense_Mutation_p.E176K	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	177	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)											0.078161	-4.675824	74.453944	34	401	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37117328	37117328	18465	19	G	A	A	A	585	45	ZNF382	2	2
ZNF382	84911	broad.mit.edu	37	19	37117865	37117865	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37117865G>T	uc002oek.2	+	c.1066G>T	c.(1066-1068)GAT>TAT	p.D356Y	ZNF382_uc010efa.2_Missense_Mutation_p.D307Y|ZNF382_uc010efb.2_Missense_Mutation_p.D355Y|ZNF382_uc002oel.2_Missense_Mutation_p.D355Y	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	356	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)											0.473684	369.160143	369.30823	117	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37117865	37117865	18465	19	G	T	T	T	481	37	ZNF382	1	1
ZNF569	148266	broad.mit.edu	37	19	37905078	37905078	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37905078C>G	uc002ogj.2	-	c.554G>C	c.(553-555)AGA>ACA	p.R185T	ZNF569_uc002ogh.2_Missense_Mutation_p.R2T|ZNF569_uc002ogi.2_Missense_Mutation_p.R161T	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.108108	21.983605	44.528309	16	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37905078	37905078	18595	19	C	G	G	G	416	32	ZNF569	3	3
ZNF573	126231	broad.mit.edu	37	19	38229842	38229842	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38229842G>C	uc002ohe.2	-	c.1549C>G	c.(1549-1551)CAG>GAG	p.Q517E	ZNF573_uc010efs.2_Missense_Mutation_p.Q430E|ZNF573_uc002ohd.2_Missense_Mutation_p.Q515E|ZNF573_uc002ohf.2_Missense_Mutation_p.Q459E|ZNF573_uc002ohg.2_Missense_Mutation_p.Q429E	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	497	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)											0.051151	-31.346384	52.067452	20	371	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38229842	38229842	18600	19	G	C	C	C	585	45	ZNF573	3	3
CATSPERG	57828	broad.mit.edu	37	19	38850164	38850164	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38850164C>G	uc002oih.3	+	c.1551C>G	c.(1549-1551)ATC>ATG	p.I517M	CATSPERG_uc002oig.3_Missense_Mutation_p.I477M|CATSPERG_uc002oif.3_Missense_Mutation_p.I157M|CATSPERG_uc010efw.2_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	517	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1														0.05914	-13.060043	24.942602	11	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38850164	38850164	2811	19	C	G	G	G	369	29	CATSPERG	3	3
GGN	199720	broad.mit.edu	37	19	38877429	38877429	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38877429G>C	uc002oij.1	-	c.473C>G	c.(472-474)CCG>CGG	p.P158R	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P75R	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	158	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)											0.111111	6.747402	21.486893	11	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38877429	38877429	6626	19	G	C	C	C	507	39	GGN	3	3
LGALS14	56891	broad.mit.edu	37	19	40198008	40198008	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40198008G>A	uc002omf.2	+	c.370G>A	c.(370-372)GTG>ATG	p.V124M	LGALS14_uc002omg.2_Missense_Mutation_p.V95M	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	95	Galectin.					nucleus	sugar binding			ovary(1)	1	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)											0.058178	-79.976418	106.387868	53	858	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40198008	40198008	9066	19	G	A	A	A	624	48	LGALS14	2	2
FCGBP	8857	broad.mit.edu	37	19	40406007	40406007	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40406007C>A	uc002omp.3	-	c.4839G>T	c.(4837-4839)GCG>GCT	p.A1613A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1613	Cys-rich.					extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)											0.444444	101.090377	101.282736	32	40	KEEP	---	---	---	---	capture		Silent	SNP	40406007	40406007	6015	19	C	A	A	A	288	23	FCGBP	1	1
SPTBN4	57731	broad.mit.edu	37	19	41029413	41029413	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41029413C>A	uc002ony.2	+	c.3724C>A	c.(3724-3726)CGT>AGT	p.R1242S	SPTBN4_uc002onx.2_Missense_Mutation_p.R1242S|SPTBN4_uc002onz.2_Missense_Mutation_p.R1242S|SPTBN4_uc010egx.2_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1242	Spectrin 10.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.087137	8.120453	49.669158	21	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41029413	41029413	15635	19	C	A	A	A	299	23	SPTBN4	1	1
CHAF1A	10036	broad.mit.edu	37	19	4418042	4418042	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4418042C>G	uc002mal.2	+	c.986C>G	c.(985-987)TCT>TGT	p.S329C		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	329	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin assembly complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)										0.132075	14.689659	21.656949	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4418042	4418042	3445	19	C	G	G	G	416	32	CHAF1A	3	3
IRGC	56269	broad.mit.edu	37	19	44223366	44223366	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44223366C>T	uc002oxh.2	+	c.656C>T	c.(655-657)TCG>TTG	p.S219L		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	219						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)	1		Prostate(69;0.0435)				Colon(189;350 2037 11447 13433 38914)								0.32	19.161572	19.898198	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44223366	44223366	8141	19	C	T	T	T	403	31	IRGC	1	1
KLK12	43849	broad.mit.edu	37	19	51535285	51535285	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51535285A>C	uc002pvh.1	-	c.304T>G	c.(304-306)TCG>GCG	p.S102A	KLK12_uc002pvg.1_Missense_Mutation_p.S102A|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Missense_Mutation_p.S102A|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 1	102	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)										0.176471	5.615144	7.291888	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51535285	51535285	8714	19	A	C	C	C	143	11	KLK12	4	4
SIGLEC5	8778	broad.mit.edu	37	19	52132708	52132708	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52132708G>A	uc002pxe.2	-	c.603C>T	c.(601-603)ACC>ACT	p.T201T		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	201	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(1)	2		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)										0.119048	24.346969	48.248268	20	148	KEEP	---	---	---	---	capture		Silent	SNP	52132708	52132708	14806	19	G	A	A	A	548	43	SIGLEC5	2	2
FPR2	2358	broad.mit.edu	37	19	52272445	52272445	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52272445C>G	uc002pxr.2	+	c.534C>G	c.(532-534)TTC>TTG	p.F178L	FPR2_uc002pxs.3_Missense_Mutation_p.F178L|FPR2_uc010epf.2_Missense_Mutation_p.F178L	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	178	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1														0.072566	0.853966	107.397363	41	524	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52272445	52272445	6285	19	C	G	G	G	376	29	FPR2	3	3
LAIR1	3903	broad.mit.edu	37	19	54867011	54867011	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54867011C>T	uc002qfk.1	-	c.730G>A	c.(730-732)GGG>AGG	p.G244R	LAIR1_uc002qfl.1_Missense_Mutation_p.G227R|LAIR1_uc002qfm.1_Missense_Mutation_p.G243R|LAIR1_uc002qfn.1_Missense_Mutation_p.G226R|LAIR1_uc010yex.1_Missense_Mutation_p.G237R|LAIR1_uc002qfo.2_Missense_Mutation_p.G226R	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	244	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)										0.095238	12.685864	43.825464	18	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54867011	54867011	8925	19	C	T	T	T	312	24	LAIR1	2	2
NLRP9	338321	broad.mit.edu	37	19	56244069	56244069	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56244069G>C	uc002qly.2	-	c.1128C>G	c.(1126-1128)TTC>TTG	p.F376L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	376	NACHT.					cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)										0.13649	104.654606	150.554579	49	310	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56244069	56244069	10887	19	G	C	C	C	581	45	NLRP9	3	3
NLRP9	338321	broad.mit.edu	37	19	56244582	56244582	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56244582G>T	uc002qly.2	-	c.615C>A	c.(613-615)GAC>GAA	p.D205E		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	205	NACHT.					cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)										0.289855	55.670928	58.40239	20	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56244582	56244582	10887	19	G	T	T	T	464	36	NLRP9	2	2
NLRP13	126204	broad.mit.edu	37	19	56423720	56423720	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56423720A>G	uc010ygg.1	-	c.1463T>C	c.(1462-1464)ATA>ACA	p.I488T		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	488	NACHT.						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)										0.146789	33.484063	46.503713	16	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56423720	56423720	10878	19	A	G	G	G	208	16	NLRP13	4	4
ZNF416	55659	broad.mit.edu	37	19	58083558	58083558	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58083558G>A	uc002qpf.2	-	c.1714C>T	c.(1714-1716)CAC>TAC	p.H572Y	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	572	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)										0.179949	141.802832	179.462566	70	319	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58083558	58083558	18486	19	G	A	A	A	585	45	ZNF416	2	2
ZNF154	7710	broad.mit.edu	37	19	58213791	58213791	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58213791G>C	uc010euf.2	-	c.526C>G	c.(526-528)CTC>GTC	p.L176V	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	176	C2H2-type 3.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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;0.0257)										0.142617	166.955372	240.368474	85	511	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58213791	58213791	18326	19	G	C	C	C	429	33	ZNF154	3	3
DENND1C	79958	broad.mit.edu	37	19	6467742	6467742	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6467742C>G	uc002mfe.2	-	c.2179G>C	c.(2179-2181)GAT>CAT	p.D727H	DENND1C_uc002mfb.2_Missense_Mutation_p.D277H|DENND1C_uc002mfc.2_Missense_Mutation_p.D277H|DENND1C_uc002mfd.2_Missense_Mutation_p.D277H|DENND1C_uc010xje.1_Missense_Mutation_p.D683H	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	727						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1														0.115385	5.505115	9.293471	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6467742	6467742	4607	19	C	G	G	G	377	29	DENND1C	3	3
XAB2	56949	broad.mit.edu	37	19	7685330	7685330	+	Silent	SNP	C	T	T	rs117137797	by1000genomes	TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7685330C>T	uc002mgx.2	-	c.2097G>A	c.(2095-2097)ACG>ACA	p.T699T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	699	HAT 14.				nuclear mRNA splicing, via spliceosome|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4														0.114286	5.178269	10.308409	4	31	KEEP	---	---	---	---	capture		Silent	SNP	7685330	7685330	17992	19	C	T	T	T	392	31	XAB2	1	1
FCER2	2208	broad.mit.edu	37	19	7755301	7755301	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7755301C>T	uc002mhn.2	-	c.612G>A	c.(610-612)CCG>CCA	p.P204P	FCER2_uc010xjs.1_Silent_p.P126P|FCER2_uc010xjt.1_Silent_p.P126P|FCER2_uc002mhm.2_Silent_p.P204P	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	204	C-type lectin.|Extracellular (Potential).				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0														0.33871	125.259457	128.089131	42	82	KEEP	---	---	---	---	capture		Silent	SNP	7755301	7755301	6013	19	C	T	T	T	288	23	FCER2	1	1
AZU1	566	broad.mit.edu	37	19	828291	828291	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:828291C>G	uc002lpz.1	+	c.120C>G	c.(118-120)TTC>TTG	p.F40L		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	40	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|STAD - Stomach adenocarcinoma(1328;0.18)										0.375	8.825842	8.934389	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	828291	828291	1264	19	C	G	G	G	389	30	AZU1	3	3
MUC16	94025	broad.mit.edu	37	19	9073567	9073567	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9073567C>G	uc002mkp.2	-	c.13879G>C	c.(13879-13881)GTG>CTG	p.V4627L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4629	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														0.270718	152.375491	160.977481	49	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9073567	9073567	10367	19	C	G	G	G	221	17	MUC16	3	3
SLC22A15	55356	broad.mit.edu	37	1	116534856	116534856	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:116534856G>T	uc001egb.3	+	c.292G>T	c.(292-294)GCC>TCC	p.A98S	SLC22A15_uc001ega.2_Missense_Mutation_p.A98S	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	98					ion transport|transmembrane transport	integral to membrane	transporter activity			large_intestine(2)	2	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)						219				0.26087	14.139108	15.330194	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116534856	116534856	14942	1	G	T	T	T	494	38	SLC22A15	1	1
RPRD2	23248	broad.mit.edu	37	1	150444486	150444486	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150444486C>G	uc009wlr.2	+	c.3062C>G	c.(3061-3063)TCA>TGA	p.S1021*	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Nonsense_Mutation_p.S995*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1021							protein binding			ovary(1)	1														0.172489	203.831494	250.241636	79	379	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150444486	150444486	14096	1	C	G	G	G	377	29	RPRD2	5	3
RPRD2	23248	broad.mit.edu	37	1	150445065	150445065	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150445065C>T	uc009wlr.2	+	c.3641C>T	c.(3640-3642)TCT>TTT	p.S1214F	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.S1188F	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1214	Pro-rich.						protein binding			ovary(1)	1														0.158333	36.765846	50.10436	19	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150445065	150445065	14096	1	C	T	T	T	416	32	RPRD2	2	2
FLG	2312	broad.mit.edu	37	1	152282538	152282538	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152282538C>G	uc001ezu.1	-	c.4824G>C	c.(4822-4824)GAG>GAC	p.E1608D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1608	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)											0.160305	49.591856	63.979878	21	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152282538	152282538	6160	1	C	G	G	G	415	32	FLG	3	3
NPR1	4881	broad.mit.edu	37	1	153655927	153655927	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153655927T>C	uc001fcs.3	+	c.1339T>C	c.(1339-1341)TAC>CAC	p.Y447H	NPR1_uc010pdz.1_Missense_Mutation_p.Y193H|NPR1_uc010pea.1_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	447	Extracellular (Potential).				diuresis|intracellular signal transduction|natriuresis|negative regulation of angiogenesis|negative regulation of cell growth|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	integral to plasma membrane	ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|breast(1)	6	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	Pancreas(141;1349 1870 15144 15830 40702)				382				0.225806	14.989746	17.158657	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153655927	153655927	10999	1	T	C	C	C	741	57	NPR1	4	4
NES	10763	broad.mit.edu	37	1	156640464	156640464	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156640464C>A	uc001fpq.2	-	c.3516G>T	c.(3514-3516)AGG>AGT	p.R1172S		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1172	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.184524	56.259176	71.933037	31	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156640464	156640464	10736	1	C	A	A	A	285	22	NES	2	2
OR10Z1	128368	broad.mit.edu	37	1	158576655	158576655	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158576655C>G	uc010pio.1	+	c.427C>G	c.(427-429)CAG>GAG	p.Q143E		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.306977	176.454018	183.610557	66	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158576655	158576655	11329	1	C	G	G	G	273	21	OR10Z1	3	3
SPTA1	6708	broad.mit.edu	37	1	158581118	158581118	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158581118C>T	uc001fst.1	-	c.7196G>A	c.(7195-7197)CGG>CAG	p.R2399Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2399					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)													0.284672	219.250273	230.64634	78	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158581118	158581118	15630	1	C	T	T	T	299	23	SPTA1	1	1
DARC	2532	broad.mit.edu	37	1	159175967	159175967	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159175967G>T	uc001ftp.3	+	c.744G>T	c.(742-744)CTG>CTT	p.L248L	DARC_uc001fto.2_Silent_p.L246L	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform a	246	Helical; Name=6; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)													0.288889	178.079284	187.071982	65	160	KEEP	---	---	---	---	capture		Silent	SNP	159175967	159175967	4407	1	G	T	T	T	613	48	DARC	2	2
C1orf192	257177	broad.mit.edu	37	1	161337657	161337657	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161337657A>G	uc001gal.2	-	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	hypothetical protein LOC257177	1											0	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.22905	106.686024	118.734464	41	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161337657	161337657	2092	1	A	G	G	G	104	8	C1orf192	4	4
OLFML2B	25903	broad.mit.edu	37	1	161968140	161968140	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161968140C>T	uc010pkq.1	-	c.953_splice	c.e6-1	p.Q318_splice	OLFML2B_uc001gbu.2_Splice_Site_SNP_p.Q317_splice	NM_015441	NP_056256			olfactomedin-like 2B precursor												0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.130435	17.746947	29.96096	12	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	161968140	161968140	11263	1	C	T	T	T	416	32	OLFML2B	5	2
LRRC52	440699	broad.mit.edu	37	1	165532800	165532800	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165532800G>A	uc001gde.2	+	c.681G>A	c.(679-681)CGG>CGA	p.R227R	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	227	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)													0.144	28.680443	43.877955	18	107	KEEP	---	---	---	---	capture		Silent	SNP	165532800	165532800	9385	1	G	A	A	A	548	43	LRRC52	2	2
DUSP27	92235	broad.mit.edu	37	1	167083021	167083021	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167083021C>A	uc001geb.1	+	c.185C>A	c.(184-186)GCC>GAC	p.A62D		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	62					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.19598	80.860732	98.082226	39	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167083021	167083021	5009	1	C	A	A	A	338	26	DUSP27	2	2
NME7	29922	broad.mit.edu	37	1	169272408	169272408	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169272408C>G	uc001gfu.2	-	c.415G>C	c.(415-417)GAT>CAT	p.D139H	NME7_uc010plq.1_Non-coding_Transcript|NME7_uc001gft.2_Missense_Mutation_p.D103H|NME7_uc001gfv.1_Missense_Mutation_p.D139H	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN	nucleoside diphosphate kinase 7 isoform a	139					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)													0.121212	6.77538	11.416666	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169272408	169272408	10899	1	C	G	G	G	416	32	NME7	3	3
FMO2	2327	broad.mit.edu	37	1	171174557	171174557	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171174557G>C	uc001ghk.1	+	c.967G>C	c.(967-969)GAT>CAT	p.D323H	FMO2_uc010pmd.1_Missense_Mutation_p.D103H	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	323					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.099099	12.936663	30.781722	11	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171174557	171174557	6197	1	G	C	C	C	585	45	FMO2	3	3
BAT2L2	23215	broad.mit.edu	37	1	171511055	171511055	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171511055G>T	uc010pmg.1	+	c.4444G>T	c.(4444-4446)GAT>TAT	p.D1482Y	BAT2L2_uc010pmh.1_Missense_Mutation_p.D459Y	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1482							protein C-terminus binding				0														0.097143	10.540631	38.996808	17	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171511055	171511055	1342	1	G	T	T	T	429	33	BAT2L2	2	2
DARS2	55157	broad.mit.edu	37	1	173799891	173799891	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173799891G>C	uc001gjh.1	+	c.388G>C	c.(388-390)GAG>CAG	p.E130Q		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	130					aspartyl-tRNA aminoacylation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)									0.114583	16.043999	30.132173	11	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173799891	173799891	4409	1	G	C	C	C	429	33	DARS2	3	3
TNR	7143	broad.mit.edu	37	1	175355258	175355258	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175355258C>A	uc001gkp.1	-	c.1687G>T	c.(1687-1689)GCC>TCC	p.A563S	TNR_uc009wwu.1_Missense_Mutation_p.A563S	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	563	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.141304	17.214429	28.56119	13	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175355258	175355258	16879	1	C	A	A	A	338	26	TNR	2	2
CACNA1E	777	broad.mit.edu	37	1	181701772	181701772	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181701772C>T	uc001gow.2	+	c.2550C>T	c.(2548-2550)ATC>ATT	p.I850I	CACNA1E_uc009wxs.2_Silent_p.I738I|CACNA1E_uc001gox.1_Silent_p.I76I|CACNA1E_uc009wxt.2_Silent_p.I76I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	850	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														0.285714	16.451444	17.310703	6	15	KEEP	---	---	---	---	capture		Silent	SNP	181701772	181701772	2658	1	C	T	T	T	369	29	CACNA1E	2	2
LAMC1	3915	broad.mit.edu	37	1	183072671	183072671	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183072671C>T	uc001gpy.3	+	c.627C>T	c.(625-627)TTC>TTT	p.F209F	LAMC1_uc001gpx.2_Silent_p.F209F	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	209	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.101449	5.270435	16.20848	7	62	KEEP	---	---	---	---	capture		Silent	SNP	183072671	183072671	8937	1	C	T	T	T	376	29	LAMC1	2	2
CFH	3075	broad.mit.edu	37	1	196694299	196694299	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196694299G>A	uc001gtj.3	+	c.1745G>A	c.(1744-1746)CGC>CAC	p.R582H		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	582	Sushi 10.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.136364	34.271778	53.989253	21	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196694299	196694299	3416	1	G	A	A	A	494	38	CFH	1	1
NR5A2	2494	broad.mit.edu	37	1	200080375	200080375	+	Silent	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200080375T>C	uc001gvb.2	+	c.1156T>C	c.(1156-1158)TTA>CTA	p.L386L	NR5A2_uc001gvc.2_Silent_p.L340L|NR5A2_uc009wzh.2_Silent_p.L346L|NR5A2_uc010pph.1_Silent_p.L314L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	386	Ligand-binding.				embryo development|positive regulation of gene-specific transcription|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|promoter binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					Melanoma(179;1138 2773 15678 26136)								0.068627	-4.630774	34.686384	14	190	KEEP	---	---	---	---	capture		Silent	SNP	200080375	200080375	11041	1	T	C	C	C	725	56	NR5A2	4	4
KIF21B	23046	broad.mit.edu	37	1	200977926	200977926	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200977926C>G	uc001gvs.1	-	c.418G>C	c.(418-420)GAG>CAG	p.E140Q	KIF21B_uc001gvr.1_Missense_Mutation_p.E140Q|KIF21B_uc009wzl.1_Missense_Mutation_p.E140Q|KIF21B_uc010ppn.1_Missense_Mutation_p.E140Q	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	140	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.173585	103.651596	130.398158	46	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200977926	200977926	8600	1	C	G	G	G	377	29	KIF21B	3	3
ZC3H11A	9877	broad.mit.edu	37	1	203797542	203797542	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203797542C>T	uc001hac.2	+	c.290C>T	c.(289-291)CCG>CTG	p.P97L	ZC3H11A_uc001had.2_Missense_Mutation_p.P97L|ZC3H11A_uc001hae.2_Missense_Mutation_p.P97L|ZC3H11A_uc001haf.2_Missense_Mutation_p.P97L|ZC3H11A_uc010pqm.1_Missense_Mutation_p.P43L|ZC3H11A_uc001hag.1_Missense_Mutation_p.P97L	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	97							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)											0.28	18.016152	19.103011	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203797542	203797542	18148	1	C	T	T	T	299	23	ZC3H11A	1	1
REN	5972	broad.mit.edu	37	1	204125889	204125889	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204125889C>T	uc001haq.2	-	c.734G>A	c.(733-735)GGA>GAA	p.G245E		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	245					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			central_nervous_system(1)	1	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)									0.096154	10.017282	35.520645	15	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204125889	204125889	13693	1	C	T	T	T	390	30	REN	2	2
PLXNA2	5362	broad.mit.edu	37	1	208218447	208218447	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:208218447C>T	uc001hgz.2	-	c.3604G>A	c.(3604-3606)GAG>AAG	p.E1202K		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1202	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.199)										0.240876	83.957403	92.316832	33	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	208218447	208218447	12546	1	C	T	T	T	403	31	PLXNA2	1	1
EIF4G3	8672	broad.mit.edu	37	1	21191193	21191193	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21191193T>C	uc001bef.2	-	c.2722A>G	c.(2722-2724)ACA>GCA	p.T908A	EIF4G3_uc010odi.1_Missense_Mutation_p.T476A|EIF4G3_uc010odj.1_Missense_Mutation_p.T871A|EIF4G3_uc009vpz.2_Missense_Mutation_p.T592A|EIF4G3_uc001bec.2_Missense_Mutation_p.T872A|EIF4G3_uc001bed.2_Missense_Mutation_p.T872A|EIF4G3_uc001bee.2_Missense_Mutation_p.T878A	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	872	eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 3.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)										0.373494	98.535645	99.72645	31	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21191193	21191193	5229	1	T	C	C	C	754	58	EIF4G3	4	4
RPS6KC1	26750	broad.mit.edu	37	1	213349822	213349822	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:213349822G>C	uc010ptr.1	+	c.1031G>C	c.(1030-1032)GGG>GCG	p.G344A	RPS6KC1_uc001hkd.2_Missense_Mutation_p.G332A|RPS6KC1_uc010pts.1_Intron|RPS6KC1_uc010ptt.1_Intron|RPS6KC1_uc010ptu.1_Missense_Mutation_p.G163A|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.G163A	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	344	Protein kinase 1.				cell communication|protein phosphorylation|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)						410				0.159722	38.627155	54.515939	23	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	213349822	213349822	14138	1	G	C	C	C	559	43	RPS6KC1	3	3
USH2A	7399	broad.mit.edu	37	1	216373195	216373195	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216373195A>T	uc001hku.1	-	c.3585T>A	c.(3583-3585)TGT>TGA	p.C1195*	USH2A_uc001hkv.2_Nonsense_Mutation_p.C1195*	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1195	Extracellular (Potential).|Fibronectin type-III 2.				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)										0.234657	165.709371	183.511359	65	212	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	216373195	216373195	17598	1	A	T	T	T	76	6	USH2A	5	3
HSPG2	3339	broad.mit.edu	37	1	22191810	22191810	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22191810C>G	uc009vqd.2	-	c.4366G>C	c.(4366-4368)GAG>CAG	p.E1456Q	HSPG2_uc001bfj.2_Missense_Mutation_p.E1455Q	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1455	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)									0.34375	72.746559	74.119221	22	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22191810	22191810	7730	1	C	G	G	G	377	29	HSPG2	3	3
OBSCN	84033	broad.mit.edu	37	1	228402505	228402505	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228402505C>T	uc009xez.1	+	c.1534C>T	c.(1534-1536)CCC>TCC	p.P512S	OBSCN_uc001hsn.2_Missense_Mutation_p.P512S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	512	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.3	16.04033	16.756261	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228402505	228402505	11217	1	C	T	T	T	390	30	OBSCN	2	2
C1orf124	83932	broad.mit.edu	37	1	231483582	231483582	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231483582A>G	uc001hur.2	+	c.361A>G	c.(361-363)ACT>GCT	p.T121A	C1orf124_uc001hus.2_Missense_Mutation_p.T121A|C1orf124_uc001hut.2_Intron	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	121					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				Esophageal Squamous(43;65 937 18756 45127 47168)								0.238411	87.323045	96.763614	36	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231483582	231483582	2059	1	A	G	G	G	78	6	C1orf124	4	4
SLC35F3	148641	broad.mit.edu	37	1	234041493	234041493	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234041493C>A	uc001hvy.1	+	c.272C>A	c.(271-273)GCG>GAG	p.A91E		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	Error:Variant_position_missing_in_Q8IY50_after_alignment					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)											0.327434	114.370993	117.337599	37	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234041493	234041493	15087	1	C	A	A	A	351	27	SLC35F3	1	1
OR2C3	81472	broad.mit.edu	37	1	247695360	247695360	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695360C>T	uc009xgy.2	-	c.454G>A	c.(454-456)GGG>AGG	p.G152R	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.325	35.656707	36.74615	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247695360	247695360	11399	1	C	T	T	T	286	22	OR2C3	2	2
OR14C36	127066	broad.mit.edu	37	1	248512967	248512967	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248512967G>T	uc010pzl.1	+	c.891G>T	c.(889-891)GTG>GTT	p.V297V		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.264865	130.370907	139.638401	49	136	KEEP	---	---	---	---	capture		Silent	SNP	248512967	248512967	11352	1	G	T	T	T	600	47	OR14C36	2	2
OR2T4	127074	broad.mit.edu	37	1	248525484	248525484	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248525484G>T	uc001ieh.1	+	c.602G>T	c.(601-603)CGT>CTT	p.R201L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	201	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(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)											0.408304	379.407592	381.526764	118	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248525484	248525484	11433	1	G	T	T	T	520	40	OR2T4	1	1
OR2T3	343173	broad.mit.edu	37	1	248637569	248637569	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248637569G>A	uc001iel.1	+	c.918G>A	c.(916-918)CTG>CTA	p.L306L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	306	Cytoplasmic (Potential).			L -> M (in Ref. 3; BAC05839).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)											0.069638	-30.46694	106.95039	50	668	KEEP	---	---	---	---	capture		Silent	SNP	248637569	248637569	11429	1	G	A	A	A	574	45	OR2T3	2	2
IFI6	2537	broad.mit.edu	37	1	27994970	27994970	+	Silent	SNP	T	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27994970T>G	uc001bon.1	-	c.171A>C	c.(169-171)GGA>GGC	p.G57G	IFI6_uc001boo.1_Silent_p.G49G|IFI6_uc001bop.1_Silent_p.G53G	NM_022873	NP_075011	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6 isoform c	49	Helical; (Potential).				anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)										0.162791	7.984515	12.662307	7	36	KEEP	---	---	---	---	capture		Silent	SNP	27994970	27994970	7820	1	T	G	G	G	691	54	IFI6	4	4
TIE1	7075	broad.mit.edu	37	1	43766752	43766752	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43766752C>T	uc001ciu.2	+	c.10C>T	c.(10-12)CGG>TGG	p.R4W	TIE1_uc010okd.1_Missense_Mutation_p.R4W|TIE1_uc010oke.1_5'UTR|TIE1_uc009vwq.2_Missense_Mutation_p.R4W|TIE1_uc010oka.1_Missense_Mutation_p.R4W|TIE1_uc010okb.1_Missense_Mutation_p.R4W|TIE1_uc010okc.1_Missense_Mutation_p.R4W	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	4					mesoderm development|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			stomach(1)|salivary_gland(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)								488				0.4	37.237315	37.544775	14	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43766752	43766752	16421	1	C	T	T	T	347	27	TIE1	1	1
STIL	6491	broad.mit.edu	37	1	47735496	47735496	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47735496G>T	uc001crd.1	-	c.2426C>A	c.(2425-2427)CCT>CAT	p.P809H	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.P762H|STIL_uc010omo.1_Missense_Mutation_p.P809H|STIL_uc001crc.1_Missense_Mutation_p.P809H|STIL_uc001cre.1_Missense_Mutation_p.P809H|STIL_uc001crf.1_Missense_Mutation_p.P422H|STIL_uc001crg.1_Missense_Mutation_p.P762H	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 1	809					cell proliferation|multicellular organismal development	cytosol					0		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)								992				0.306569	117.602331	122.171138	42	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47735496	47735496	15802	1	G	T	T	T	455	35	STIL	2	2
ZCCHC11	23318	broad.mit.edu	37	1	52975360	52975360	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52975360G>A	uc001cty.2	-	c.907C>T	c.(907-909)CGG>TGG	p.R303W	ZCCHC11_uc001ctx.2_Missense_Mutation_p.R303W|ZCCHC11_uc001ctz.2_Missense_Mutation_p.R303W|ZCCHC11_uc009vze.1_Missense_Mutation_p.R303W|ZCCHC11_uc009vzf.1_Missense_Mutation_p.R62W|ZCCHC11_uc001cub.2_Missense_Mutation_p.R303W|ZCCHC11_uc001cuc.2_Non-coding_Transcript	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	303					miRNA catabolic process|pre-microRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.311111	41.636153	43.064493	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52975360	52975360	18168	1	G	A	A	A	480	37	ZCCHC11	1	1
PPAP2B	8613	broad.mit.edu	37	1	56990031	56990031	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:56990031C>T	uc001cyj.1	-	c.493G>A	c.(493-495)GAT>AAT	p.D165N		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	165	Lumenal (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0														0.056757	-35.51032	40.963308	21	349	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56990031	56990031	12721	1	C	T	T	T	377	29	PPAP2B	2	2
PLEKHG5	57449	broad.mit.edu	37	1	6533066	6533066	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6533066C>T	uc001anp.1	-	c.1195G>A	c.(1195-1197)GAG>AAG	p.E399K	PLEKHG5_uc001ann.1_Missense_Mutation_p.E359K|PLEKHG5_uc001ano.1_Missense_Mutation_p.E378K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E399K|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.E162K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E391K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E322K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E322K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E322K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E322K	NM_198681	NP_941374	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	378					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)										0.488372	64.870835	64.875957	21	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6533066	6533066	12499	1	C	T	T	T	390	30	PLEKHG5	2	2
C1orf173	127254	broad.mit.edu	37	1	75108782	75108782	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75108782G>T	uc001dgg.2	-	c.244C>A	c.(244-246)CGT>AGT	p.R82S		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	82										ovary(3)|central_nervous_system(1)	4														0.404959	146.710716	147.675783	49	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75108782	75108782	2081	1	G	T	T	T	494	38	C1orf173	1	1
DNTTIP2	30836	broad.mit.edu	37	1	94342587	94342587	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94342587C>G	uc001dqf.2	-	c.904G>C	c.(904-906)GAT>CAT	p.D302H	DNTTIP2_uc010otm.1_Non-coding_Transcript|DNTTIP2_uc009wdo.1_Missense_Mutation_p.D97H	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)										0.19697	34.13551	39.781538	13	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94342587	94342587	4865	1	C	G	G	G	416	32	DNTTIP2	3	3
PDYN	5173	broad.mit.edu	37	20	1961025	1961025	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1961025C>G	uc010gaj.2	-	c.709G>C	c.(709-711)GTG>CTG	p.V237L	PDYN_uc002wfv.2_Missense_Mutation_p.V237L|PDYN_uc010zpt.1_Missense_Mutation_p.V82L	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	237					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			ovary(1)	1														0.269542	297.057594	314.761561	100	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1961025	1961025	12120	20	C	G	G	G	234	18	PDYN	3	3
NXT1	29107	broad.mit.edu	37	20	23335017	23335017	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23335017C>G	uc002wsx.1	+	c.339C>G	c.(337-339)TTC>TTG	p.F113L		NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	113	NTF2.					cytoplasm|nuclear pore				ovary(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)													0.095238	3.565252	10.479939	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23335017	23335017	11199	20	C	G	G	G	376	29	NXT1	3	3
TGM6	343641	broad.mit.edu	37	20	2375102	2375102	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2375102C>A	uc002wfy.1	+	c.12C>A	c.(10-12)ATC>ATA	p.I4I	TGM6_uc010gal.1_Silent_p.I4I	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	4					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)	3					L-Glutamine(DB00130)									0.238636	50.026137	55.519727	21	67	KEEP	---	---	---	---	capture		Silent	SNP	2375102	2375102	16362	20	C	A	A	A	369	29	TGM6	2	2
ZNF343	79175	broad.mit.edu	37	20	2464480	2464480	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2464480G>A	uc002wge.1	-	c.1127C>T	c.(1126-1128)TCC>TTC	p.S376F	ZNF343_uc010gao.1_Missense_Mutation_p.S376F|ZNF343_uc002wgd.1_Missense_Mutation_p.S286F	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.326316	89.491152	92.033992	31	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2464480	2464480	18450	20	G	A	A	A	533	41	ZNF343	2	2
TMC2	117532	broad.mit.edu	37	20	2597915	2597915	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2597915C>A	uc002wgf.1	+	c.2138C>A	c.(2137-2139)ACC>AAC	p.T713N	TMC2_uc002wgg.1_Missense_Mutation_p.T697N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	713	Helical; (Potential).					integral to membrane				ovary(3)	3														0.126437	14.774172	26.61571	11	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2597915	2597915	16515	20	C	A	A	A	234	18	TMC2	2	2
GSS	2937	broad.mit.edu	37	20	33533875	33533875	+	Silent	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33533875G>C	uc002xbg.2	-	c.156C>G	c.(154-156)CTC>CTG	p.L52L	GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Silent_p.L52L|GSS_uc010zup.1_Intron|GSS_uc002xbh.2_Non-coding_Transcript|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	52					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)									0.109145	54.117597	105.416875	37	302	KEEP	---	---	---	---	capture		Silent	SNP	33533875	33533875	7109	20	G	C	C	C	418	33	GSS	3	3
MAVS	57506	broad.mit.edu	37	20	3835383	3835383	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3835383G>C	uc002wjw.3	+	c.112G>C	c.(112-114)GAC>CAC	p.D38H	MAVS_uc002wjv.2_Missense_Mutation_p.D38H|MAVS_uc010zqn.1_Missense_Mutation_p.D38H|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	38	Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0														0.146552	35.420592	49.328925	17	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3835383	3835383	9722	20	G	C	C	C	429	33	MAVS	3	3
SLC12A5	57468	broad.mit.edu	37	20	44664478	44664478	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44664478C>T	uc010zxl.1	+	c.411C>T	c.(409-411)GTC>GTT	p.V137V	SLC12A5_uc002xra.2_Silent_p.V114V|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.V114V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	137	Helical; (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)									0.1875	10.42729	13.359427	6	26	KEEP	---	---	---	---	capture		Silent	SNP	44664478	44664478	14881	20	C	T	T	T	366	29	SLC12A5	2	2
ZNF217	7764	broad.mit.edu	37	20	52193223	52193223	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52193223G>A	uc002xwq.3	-	c.2080C>T	c.(2080-2082)CTT>TTT	p.L694F	ZNF217_uc010gij.1_Missense_Mutation_p.L686F	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	694					regulation of transcription, DNA-dependent	histone deacetylase complex	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			skin(2)|large_intestine(1)|lung(1)|ovary(1)	5	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)							185				0.14881	44.149943	64.062554	25	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52193223	52193223	18363	20	G	A	A	A	429	33	ZNF217	2	2
TH1L	51497	broad.mit.edu	37	20	57565000	57565000	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57565000G>A	uc002yag.2	+	c.772G>A	c.(772-774)GTG>ATG	p.V258M	TH1L_uc002yaf.1_Non-coding_Transcript|TH1L_uc002yah.2_Missense_Mutation_p.V258M	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	258					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)											0.454545	191.943888	192.202766	65	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57565000	57565000	16367	20	G	A	A	A	624	48	TH1L	2	2
DIDO1	11083	broad.mit.edu	37	20	61513176	61513176	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61513176C>T	uc002ydr.1	-	c.4132G>A	c.(4132-4134)GAA>AAA	p.E1378K	DIDO1_uc002yds.1_Missense_Mutation_p.E1378K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1378					apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.235294	7.232099	8.388707	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61513176	61513176	4701	20	C	T	T	T	390	30	DIDO1	2	2
KRTAP10-3	386682	broad.mit.edu	37	21	45978001	45978001	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45978001G>T	uc002zfj.1	-	c.598C>A	c.(598-600)CGC>AGC	p.R200S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	keratin associated protein 10-3	200	18 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.222222	34.662131	39.78013	16	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45978001	45978001	8825	21	G	T	T	T	507	39	KRTAP10-3	1	1
UBE2G2	7327	broad.mit.edu	37	21	46197310	46197310	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46197310C>G	uc002zfy.2	-	c.148G>C	c.(148-150)GAG>CAG	p.E50Q	UBE2G2_uc002zfx.2_Missense_Mutation_p.E22Q	NM_003343	NP_003334	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2 isoform 1	50					post-translational protein modification|protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)	4				Colorectal(79;0.0638)										0.411765	76.167068	76.513672	21	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46197310	46197310	17414	21	C	G	G	G	377	29	UBE2G2	3	3
CECR2	27443	broad.mit.edu	37	22	17978517	17978517	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17978517G>T	uc010gqw.1	+	c.355G>T	c.(355-357)GGA>TGA	p.G119*	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	161					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)										0.354545	114.083528	116.138833	39	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17978517	17978517	3339	22	G	T	T	T	611	47	CECR2	5	2
C22orf13	83606	broad.mit.edu	37	22	24942941	24942941	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24942941C>G	uc003aal.2	-	c.495G>C	c.(493-495)GAG>GAC	p.E165D	C22orf13_uc003aah.2_Missense_Mutation_p.E109D|C22orf13_uc003aai.3_Missense_Mutation_p.E109D|C22orf13_uc003aaj.3_Missense_Mutation_p.E109D|C22orf13_uc003aak.3_Missense_Mutation_p.E165D	NM_031444	NP_113632	Q96NT3	CV013_HUMAN	chromosome 22 open reading frame 13	109											0														0.192547	82.154439	96.481376	31	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24942941	24942941	2215	22	C	G	G	G	415	32	C22orf13	3	3
SGSM1	129049	broad.mit.edu	37	22	25280126	25280126	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:25280126G>A	uc003abg.2	+	c.1767G>A	c.(1765-1767)CTG>CTA	p.L589L	SGSM1_uc003abh.2_Silent_p.L589L|SGSM1_uc010guu.1_Silent_p.L534L|SGSM1_uc003abj.2_Silent_p.L534L|SGSM1_uc003abi.1_Silent_p.L509L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	589						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5														0.071429	-2.14498	8.454537	4	52	KEEP	---	---	---	---	capture		Silent	SNP	25280126	25280126	14713	22	G	A	A	A	574	45	SGSM1	2	2
CRYBA4	1413	broad.mit.edu	37	22	27026420	27026420	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:27026420A>T	uc003acz.3	+	c.560A>T	c.(559-561)CAG>CTG	p.Q187L		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	187	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0														0.379747	89.531134	90.532805	30	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27026420	27026420	4048	22	A	T	T	T	91	7	CRYBA4	3	3
SGSM3	27352	broad.mit.edu	37	22	40804797	40804797	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40804797G>A	uc010gyd.1	+	c.2067_splice	c.e16-1	p.R689_splice	SGSM3_uc011aos.1_Splice_Site_SNP_p.R551_splice|SGSM3_uc003ayu.1_Splice_Site_SNP_p.R618_splice|SGSM3_uc011aot.1_Splice_Site_SNP_p.R529_splice	NM_015705	NP_056520			small G protein signaling modulator 3						cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2														0.212598	68.354129	78.053259	27	100	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	40804797	40804797	14715	22	G	A	A	A	455	35	SGSM3	5	2
MKL1	57591	broad.mit.edu	37	22	40825747	40825747	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40825747T>C	uc003ayv.1	-	c.164A>G	c.(163-165)CAG>CGG	p.Q55R	MKL1_uc003ayw.1_Missense_Mutation_p.Q55R|MKL1_uc010gye.1_Missense_Mutation_p.Q55R|MKL1_uc010gyf.1_Missense_Mutation_p.Q55R	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	55	Mediates interaction with SCAI and ACTB (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|nucleic acid binding|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3										210				0.15	21.247554	30.643126	12	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40825747	40825747	9991	22	T	C	C	C	715	55	MKL1	4	4
ARFGAP3	26286	broad.mit.edu	37	22	43213182	43213182	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:43213182C>A	uc003bdd.2	-	c.1030G>T	c.(1030-1032)GAC>TAC	p.D344Y	ARFGAP3_uc010gzf.2_Missense_Mutation_p.D300Y|ARFGAP3_uc011apu.1_Missense_Mutation_p.D272Y	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	344					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						GBM(58;544 1030 21460 27159 48838)								0.13913	24.415205	38.893127	16	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43213182	43213182	862	22	C	A	A	A	377	29	ARFGAP3	2	2
SMC1B	27127	broad.mit.edu	37	22	45748426	45748426	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45748426G>C	uc003bgc.2	-	c.3330C>G	c.(3328-3330)AAC>AAG	p.N1110K	SMC1B_uc003bgd.2_Intron	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	1110					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)										0.226415	33.90212	37.523626	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45748426	45748426	15280	22	G	C	C	C	464	36	SMC1B	3	3
MAPK8IP2	23542	broad.mit.edu	37	22	51043818	51043818	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:51043818C>T	uc003bmx.2	+	c.1788C>T	c.(1786-1788)TTC>TTT	p.F596F	MAPK8IP2_uc003bmy.2_Silent_p.F569F|MAPK8IP2_uc011asc.1_5'UTR	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	596					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)						297				0.235294	8.889364	9.980694	4	13	KEEP	---	---	---	---	capture		Silent	SNP	51043818	51043818	9668	22	C	T	T	T	415	32	MAPK8IP2	2	2
TBC1D8	11138	broad.mit.edu	37	2	101646186	101646186	+	Silent	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101646186T>A	uc010fiv.2	-	c.1944A>T	c.(1942-1944)CCA>CCT	p.P648P	TBC1D8_uc002tau.3_Silent_p.P405P	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	648	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3														0.049505	-10.912918	10.847298	5	96	KEEP	---	---	---	---	capture		Silent	SNP	101646186	101646186	16151	2	T	A	A	A	704	55	TBC1D8	3	3
POU3F3	5455	broad.mit.edu	37	2	105472929	105472929	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:105472929G>T	uc010ywg.1	+	c.961G>T	c.(961-963)GAC>TAC	p.D321Y		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	321	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|transcription activator activity|transcription repressor activity			ovary(1)	1														0.30303	28.04215	29.182315	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105472929	105472929	12706	2	G	T	T	T	481	37	POU3F3	1	1
POU3F3	5455	broad.mit.edu	37	2	105473259	105473259	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:105473259C>G	uc010ywg.1	+	c.1291C>G	c.(1291-1293)CCC>GCC	p.P431A		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	431	Homeobox.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|transcription activator activity|transcription repressor activity			ovary(1)	1														0.129032	5.3797	9.537496	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105473259	105473259	12706	2	C	G	G	G	338	26	POU3F3	3	3
SNTG2	54221	broad.mit.edu	37	2	1168845	1168845	+	Silent	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1168845T>C	uc002qwq.2	+	c.567T>C	c.(565-567)CAT>CAC	p.H189H	SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	189					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)										0.106936	80.785013	186.892816	74	618	KEEP	---	---	---	---	capture		Silent	SNP	1168845	1168845	15375	2	T	C	C	C	647	50	SNTG2	4	4
DDX18	8886	broad.mit.edu	37	2	118572407	118572407	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:118572407C>G	uc002tlh.1	+	c.54C>G	c.(52-54)CTC>CTG	p.L18L		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	18							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4												OREG0014916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.106195	15.81135	33.222879	12	101	KEEP	---	---	---	---	capture		Silent	SNP	118572407	118572407	4516	2	C	G	G	G	366	29	DDX18	3	3
PCDP1	200373	broad.mit.edu	37	2	120397378	120397378	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120397378C>A	uc002tmb.2	+	c.1297C>A	c.(1297-1299)CAC>AAC	p.H433N		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	719						cilium	calmodulin binding				0	Colorectal(110;0.196)													0.198473	55.782262	66.80729	26	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120397378	120397378	11992	2	C	A	A	A	325	25	PCDP1	2	2
NCKAP5	344148	broad.mit.edu	37	2	133540011	133540011	+	Missense_Mutation	SNP	G	T	T	rs112873686		TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133540011G>T	uc002ttp.2	-	c.4373C>A	c.(4372-4374)GCG>GAG	p.A1458E	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1458							protein binding				0														0.280702	43.877018	46.340308	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133540011	133540011	10622	2	G	T	T	T	494	38	NCKAP5	1	1
LRP1B	53353	broad.mit.edu	37	2	141267620	141267620	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141267620T>C	uc002tvj.1	-	c.8275A>G	c.(8275-8277)ATA>GTA	p.I2759V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2759	Extracellular (Potential).				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)			0.338129	120.880922	124.102247	47	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141267620	141267620	9328	2	T	C	C	C	663	51	LRP1B	4	4
ARHGAP15	55843	broad.mit.edu	37	2	143913137	143913137	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:143913137G>C	uc002tvm.3	+	c.78G>C	c.(76-78)ATG>ATC	p.M26I	ARHGAP15_uc010zbl.1_Missense_Mutation_p.M26I	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	26					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.151)										0.164706	26.560343	35.698881	14	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143913137	143913137	877	2	G	C	C	C	585	45	ARHGAP15	3	3
MBD5	55777	broad.mit.edu	37	2	149226685	149226685	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:149226685G>C	uc002twm.3	+	c.1173G>C	c.(1171-1173)ATG>ATC	p.M391I	MBD5_uc010zbs.1_Non-coding_Transcript|MBD5_uc010fns.2_Missense_Mutation_p.M391I|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	391	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0569)										0.121212	104.451034	169.426712	56	406	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149226685	149226685	9735	2	G	C	C	C	585	45	MBD5	3	3
DDX1	1653	broad.mit.edu	37	2	15735280	15735280	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15735280A>T	uc002rce.2	+	c.28A>T	c.(28-30)ATG>TTG	p.M10L	DDX1_uc010yjq.1_Intron	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	10	Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	nucleus|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)						1245				0.053191	-8.003791	11.805713	5	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15735280	15735280	4512	2	A	T	T	T	52	4	DDX1	3	3
SLC4A10	57282	broad.mit.edu	37	2	162820795	162820795	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162820795G>A	uc002ubx.3	+	c.3013G>A	c.(3013-3015)GCT>ACT	p.A1005T	SLC4A10_uc002uby.3_Missense_Mutation_p.A975T|SLC4A10_uc010zcs.1_Missense_Mutation_p.A986T	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	1005	Helical; (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.265625	46.254993	49.426068	17	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162820795	162820795	15148	2	G	A	A	A	442	34	SLC4A10	2	2
COBLL1	22837	broad.mit.edu	37	2	165551528	165551528	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165551528G>A	uc010zcw.1	-	c.2689C>T	c.(2689-2691)CCA>TCA	p.P897S	COBLL1_uc002ucp.2_Missense_Mutation_p.P830S|COBLL1_uc002ucq.2_Missense_Mutation_p.P792S|COBLL1_uc010zcx.1_Missense_Mutation_p.P838S|COBLL1_uc002ucn.2_Missense_Mutation_p.P258S|COBLL1_uc002uco.2_Missense_Mutation_p.P561S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	868										ovary(2)|pancreas(1)	3														0.153846	59.885035	86.673747	36	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165551528	165551528	3792	2	G	A	A	A	546	42	COBLL1	2	2
SCN3A	6328	broad.mit.edu	37	2	165971983	165971983	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165971983C>T	uc002ucx.2	-	c.3496G>A	c.(3496-3498)GAA>AAA	p.E1166K	SCN3A_uc002ucy.2_Missense_Mutation_p.E1117K|SCN3A_uc002ucz.2_Missense_Mutation_p.E1117K|SCN3A_uc002uda.1_Missense_Mutation_p.E986K|SCN3A_uc002udb.1_Missense_Mutation_p.E986K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1166						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.118012	23.704151	46.795836	19	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165971983	165971983	14400	2	C	T	T	T	390	30	SCN3A	2	2
SCN9A	6335	broad.mit.edu	37	2	167094772	167094772	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167094772A>C	uc010fpl.2	-	c.3600T>G	c.(3598-3600)TTT>TTG	p.F1200L		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1211	III.|Helical; Name=S1 of repeat III; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.12	5.607557	9.148079	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167094772	167094772	14407	2	A	C	C	C	63	5	SCN9A	4	4
KBTBD10	10324	broad.mit.edu	37	2	170371213	170371213	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170371213C>G	uc002ueu.1	+	c.1240C>G	c.(1240-1242)CTG>GTG	p.L414V	KBTBD10_uc010zdh.1_Missense_Mutation_p.L352V	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	414	Kelch 2.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0														0.157143	43.863368	59.571222	22	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170371213	170371213	8294	2	C	G	G	G	363	28	KBTBD10	3	3
PPIG	9360	broad.mit.edu	37	2	170460729	170460729	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170460729G>A	uc002uez.2	+	c.94G>A	c.(94-96)GTG>ATG	p.V32M	PPIG_uc010fpx.2_Missense_Mutation_p.V32M|PPIG_uc010fpy.2_Intron|PPIG_uc002ufa.2_Missense_Mutation_p.V32M|PPIG_uc002ufb.2_Missense_Mutation_p.V32M|PPIG_uc002ufc.1_Missense_Mutation_p.V32M|PPIG_uc002ufd.2_Missense_Mutation_p.V32M	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	32	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)									0.136095	33.39527	55.091212	23	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170460729	170460729	12759	2	G	A	A	A	624	48	PPIG	2	2
HOXD8	3234	broad.mit.edu	37	2	176995386	176995386	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176995386G>T	uc002uko.2	+	c.292G>T	c.(292-294)GGG>TGG	p.G98W	HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Missense_Mutation_p.G98W	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	98					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)										0.277778	15.069321	15.867749	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176995386	176995386	7617	2	G	T	T	T	507	39	HOXD8	1	1
GEN1	348654	broad.mit.edu	37	2	17962451	17962451	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17962451G>C	uc002rct.2	+	c.1972G>C	c.(1972-1974)GAG>CAG	p.E658Q	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E658Q|GEN1_uc002rcu.2_Missense_Mutation_p.E658Q	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	658					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)													0.150442	37.81316	51.034347	17	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17962451	17962451	6603	2	G	C	C	C	429	33	GEN1	3	3
CCDC141	285025	broad.mit.edu	37	2	179737000	179737000	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179737000A>T	uc002unf.1	-	c.214T>A	c.(214-216)TAC>AAC	p.Y72N		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	72	Potential.						protein binding			ovary(7)|pancreas(2)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.084416	2.961431	29.962003	13	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179737000	179737000	2895	2	A	T	T	T	182	14	CCDC141	3	3
COL5A2	1290	broad.mit.edu	37	2	189906410	189906410	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189906410C>G	uc002uqk.2	-	c.3535G>C	c.(3535-3537)GGC>CGC	p.G1179R	COL5A2_uc010frx.2_Missense_Mutation_p.G755R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1179					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.164286	50.341521	65.320788	23	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189906410	189906410	3835	2	C	G	G	G	312	24	COL5A2	3	3
HECW2	57520	broad.mit.edu	37	2	197183930	197183930	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197183930G>T	uc002utm.1	-	c.1684C>A	c.(1684-1686)CAG>AAG	p.Q562K	HECW2_uc002utl.1_Missense_Mutation_p.Q206K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	562					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.101266	6.563571	19.076024	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197183930	197183930	7326	2	G	T	T	T	611	47	HECW2	2	2
FAM117B	150864	broad.mit.edu	37	2	203630379	203630379	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:203630379C>T	uc010zhx.1	+	c.1662C>T	c.(1660-1662)TCC>TCT	p.S554S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	554										ovary(1)	1														0.281818	85.58151	90.284899	31	79	KEEP	---	---	---	---	capture		Silent	SNP	203630379	203630379	5607	2	C	T	T	T	275	22	FAM117B	2	2
SDC1	6382	broad.mit.edu	37	2	20402600	20402600	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20402600G>T	uc002rdo.1	-	c.860C>A	c.(859-861)TCC>TAC	p.S287Y	SDC1_uc002rdp.1_Missense_Mutation_p.S287Y|SDC1_uc010exv.2_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	287	Cytoplasmic (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)										0.109375	9.066294	28.413121	14	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20402600	20402600	14436	2	G	T	T	T	533	41	SDC1	2	2
SDC1	6382	broad.mit.edu	37	2	20402913	20402913	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20402913G>C	uc002rdo.1	-	c.698C>G	c.(697-699)TCC>TGC	p.S233C	SDC1_uc002rdp.1_Missense_Mutation_p.S233C|SDC1_uc010exv.2_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	233	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)										0.129032	12.957833	21.266293	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20402913	20402913	14436	2	G	C	C	C	533	41	SDC1	3	3
UNC80	285175	broad.mit.edu	37	2	210650795	210650795	+	Silent	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210650795T>A	uc010zjc.1	+	c.606T>A	c.(604-606)TCT>TCA	p.S202S	UNC80_uc002vdj.1_Silent_p.S202S	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	chromosome 2 open reading frame 21 isoform 1	202						integral to membrane					0														0.271277	145.144339	154.011725	51	137	KEEP	---	---	---	---	capture		Silent	SNP	210650795	210650795	17554	2	T	A	A	A	704	55	UNC80	3	3
CCDC108	255101	broad.mit.edu	37	2	219885896	219885896	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219885896G>T	uc002vjl.1	-	c.3237C>A	c.(3235-3237)ACC>ACA	p.T1079T	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1079						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.173913	8.785008	11.093829	4	19	KEEP	---	---	---	---	capture		Silent	SNP	219885896	219885896	2863	2	G	T	T	T	444	35	CCDC108	2	2
OBSL1	23363	broad.mit.edu	37	2	220420766	220420766	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220420766T>C	uc010fwk.2	-	c.4585A>G	c.(4585-4587)ACC>GCC	p.T1529A	OBSL1_uc002vmh.1_Missense_Mutation_p.T428A|OBSL1_uc010zli.1_Missense_Mutation_p.T336A|OBSL1_uc010fwl.1_Missense_Mutation_p.T1004A	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1529	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)										0.175439	15.332218	21.157574	10	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220420766	220420766	11218	2	T	C	C	C	767	59	OBSL1	4	4
CUL3	8452	broad.mit.edu	37	2	225376227	225376227	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225376227C>T	uc010fwy.1	-	c.745G>A	c.(745-747)GAA>AAA	p.E249K	CUL3_uc002vny.2_Missense_Mutation_p.E243K|CUL3_uc010zls.1_Missense_Mutation_p.E177K	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	243					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			ovary(1)|liver(1)|kidney(1)	3		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)										0.146853	32.670197	49.82029	21	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	225376227	225376227	4216	2	C	T	T	T	377	29	CUL3	2	2
HDAC4	9759	broad.mit.edu	37	2	240066313	240066313	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240066313G>T	uc002vyk.3	-	c.831C>A	c.(829-831)GTC>GTA	p.V277V	HDAC4_uc010fyz.1_Silent_p.V272V|HDAC4_uc010zoa.1_Silent_p.V272V|HDAC4_uc010fza.2_Silent_p.V277V|HDAC4_uc010fyy.2_Silent_p.V229V|HDAC4_uc010znz.1_Silent_p.V160V|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	277	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription activator activity|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)						606				0.065934	-7.259873	10.766535	6	85	KEEP	---	---	---	---	capture		Silent	SNP	240066313	240066313	7292	2	G	T	T	T	574	45	HDAC4	2	2
ITSN2	50618	broad.mit.edu	37	2	24475348	24475348	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24475348C>G	uc002rfe.2	-	c.2986G>C	c.(2986-2988)GAA>CAA	p.E996Q	ITSN2_uc002rff.2_Missense_Mutation_p.E969Q|ITSN2_uc002rfg.2_Missense_Mutation_p.E996Q|ITSN2_uc002rfh.1_Non-coding_Transcript	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	996	SH3 3.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.096774	27.660963	68.019719	24	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24475348	24475348	8231	2	C	G	G	G	390	30	ITSN2	3	3
C2orf18	54978	broad.mit.edu	37	2	26999280	26999280	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26999280C>G	uc002rhp.1	+	c.576C>G	c.(574-576)ATC>ATG	p.I192M	C2orf18_uc002rhq.1_Missense_Mutation_p.I109M|C2orf18_uc010eyo.1_Missense_Mutation_p.I139M|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	192	Helical; (Potential).					integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.097826	11.034151	25.902643	9	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26999280	26999280	2244	2	C	G	G	G	382	30	C2orf18	3	3
MPV17	4358	broad.mit.edu	37	2	27535576	27535576	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27535576C>A	uc002rjr.2	-	c.250G>T	c.(250-252)GAT>TAT	p.D84Y	MPV17_uc002rjq.2_Missense_Mutation_p.D84Y|MPV17_uc002rjs.2_Missense_Mutation_p.D84Y|MPV17_uc002rjt.2_Non-coding_Transcript	NM_002437	NP_002428	P39210	MPV17_HUMAN	Mpv17 protein	84					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.215909	33.916934	40.548119	19	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27535576	27535576	10137	2	C	A	A	A	390	30	MPV17	2	2
THUMPD2	80745	broad.mit.edu	37	2	39964054	39964054	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39964054C>T	uc002rru.2	-	c.1333G>A	c.(1333-1335)GAA>AAA	p.E445K	THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_Missense_Mutation_p.E336K	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	415							methyltransferase activity				0		all_hematologic(82;0.248)												0.271233	248.319583	265.584714	99	266	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39964054	39964054	16411	2	C	T	T	T	377	29	THUMPD2	2	2
SRBD1	55133	broad.mit.edu	37	2	45812906	45812906	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:45812906G>C	uc002rus.2	-	c.656C>G	c.(655-657)TCT>TGT	p.S219C		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	219					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)											0.289474	147.941008	153.97677	44	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45812906	45812906	15647	2	G	C	C	C	429	33	SRBD1	3	3
FSHR	2492	broad.mit.edu	37	2	49190745	49190745	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49190745G>A	uc002rww.2	-	c.1215C>T	c.(1213-1215)GCC>GCT	p.A405A	FSHR_uc002rwx.2_Silent_p.A343A|FSHR_uc010fbn.2_Silent_p.A379A	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	405	Helical; Name=2; (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)									0.229075	135.170473	150.50668	52	175	KEEP	---	---	---	---	capture		Silent	SNP	49190745	49190745	6324	2	G	A	A	A	444	35	FSHR	2	2
MPHOSPH10	10199	broad.mit.edu	37	2	71360522	71360522	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71360522G>C	uc002sht.1	+	c.584G>C	c.(583-585)AGA>ACA	p.R195T	MPHOSPH10_uc010feb.1_Missense_Mutation_p.R195T	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	195					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			ovary(1)	1														0.151261	40.367612	54.231846	18	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71360522	71360522	10117	2	G	C	C	C	429	33	MPHOSPH10	3	3
DCTN1	1639	broad.mit.edu	37	2	74590293	74590293	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74590293C>G	uc002skx.2	-	c.3357G>C	c.(3355-3357)ATG>ATC	p.M1119I	SLC4A5_uc002skl.2_Non-coding_Transcript|DCTN1_uc002skt.1_Missense_Mutation_p.M53I|DCTN1_uc002skv.2_Missense_Mutation_p.M985I|DCTN1_uc002sku.2_Missense_Mutation_p.M980I|DCTN1_uc002skw.1_Missense_Mutation_p.M1095I|DCTN1_uc010ffd.2_Missense_Mutation_p.M1094I|DCTN1_uc002sky.2_Missense_Mutation_p.M1077I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	1119					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)	3														0.22	92.191884	103.024491	33	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74590293	74590293	4477	2	C	G	G	G	377	29	DCTN1	3	3
MRPL53	116540	broad.mit.edu	37	2	74699368	74699368	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74699368G>A	uc002sln.2	-	c.217C>T	c.(217-219)CGC>TGC	p.R73C	CCDC142_uc002slo.2_Non-coding_Transcript	NM_053050	NP_444278	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53 precursor	73						mitochondrion|ribosome					0														0.246575	43.529666	47.788445	18	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74699368	74699368	10210	2	G	A	A	A	481	37	MRPL53	1	1
LRRTM1	347730	broad.mit.edu	37	2	80529897	80529897	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80529897C>A	uc002sok.1	-	c.1048G>T	c.(1048-1050)GGC>TGC	p.G350C	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	350	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)	3														0.296296	20.59176	21.592608	8	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80529897	80529897	9415	2	C	A	A	A	286	22	LRRTM1	2	2
PROM2	150696	broad.mit.edu	37	2	95954337	95954337	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:95954337G>T	uc002suh.1	+	c.2441G>T	c.(2440-2442)AGC>ATC	p.S814I	PROM2_uc002sui.2_Missense_Mutation_p.S814I|PROM2_uc002suj.2_Missense_Mutation_p.S468I|PROM2_uc002suk.2_Missense_Mutation_p.S814I|PROM2_uc002sul.2_Missense_Mutation_p.S340I|PROM2_uc002sum.2_Non-coding_Transcript	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	814	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1														0.367647	65.035235	66.090197	25	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95954337	95954337	12999	2	G	T	T	T	455	35	PROM2	2	2
VWA3B	200403	broad.mit.edu	37	2	98928739	98928739	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98928739G>C	uc002syo.2	+	c.3812G>C	c.(3811-3813)CGA>CCA	p.R1271P	VWA3B_uc002syr.1_3'UTR|VWA3B_uc002sys.2_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1271										ovary(3)|large_intestine(2)	5														0.117117	17.204667	33.201246	13	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98928739	98928739	17810	2	G	C	C	C	481	37	VWA3B	3	3
INPP4A	3631	broad.mit.edu	37	2	99156082	99156082	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99156082C>G	uc002syy.2	+	c.762C>G	c.(760-762)CTC>CTG	p.L254L	INPP4A_uc010yvj.1_Silent_p.L254L|INPP4A_uc010yvk.1_Silent_p.L254L|INPP4A_uc002syx.2_Silent_p.L254L|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	254					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1														0.12381	39.383061	68.535719	26	184	KEEP	---	---	---	---	capture		Silent	SNP	99156082	99156082	8053	2	C	G	G	G	405	32	INPP4A	3	3
OSBPL11	114885	broad.mit.edu	37	3	125313607	125313607	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125313607G>C	uc003eic.2	-	c.38C>G	c.(37-39)TCG>TGG	p.S13W		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	13					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5														0.104167	7.152056	14.622521	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125313607	125313607	11687	3	G	C	C	C	481	37	OSBPL11	3	3
FOXL2	668	broad.mit.edu	37	3	138665213	138665213	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138665213C>G	uc003esw.2	-	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	118	Fork-head.				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of gene-specific transcription from RNA polymerase II promoter|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			ovary(226)|large_intestine(1)|skin(1)	228														0.111111	6.473663	11.855479	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138665213	138665213	6263	3	C	G	G	G	403	31	FOXL2	3	3
KCNAB1	7881	broad.mit.edu	37	3	155838622	155838622	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155838622C>A	uc003far.2	+	c.222C>A	c.(220-222)CTC>CTA	p.L74L	KCNAB1_uc011bon.1_Silent_p.L74L	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	74					oxidation-reduction process	cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)											0.247312	53.468599	58.883281	23	70	KEEP	---	---	---	---	capture		Silent	SNP	155838622	155838622	8314	3	C	A	A	A	405	32	KCNAB1	2	2
SI	6476	broad.mit.edu	37	3	164733773	164733773	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164733773T>C	uc003fei.2	-	c.3855A>G	c.(3853-3855)ATA>ATG	p.I1285M		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1285	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)									0.110092	130.871833	245.625319	84	679	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164733773	164733773	14792	3	T	C	C	C	784	61	SI	4	4
SI	6476	broad.mit.edu	37	3	164793793	164793793	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164793793C>A	uc003fei.2	-	c.8G>T	c.(7-9)AGA>ATA	p.R3I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	3	Cytoplasmic.				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)									0.080214	-1.926231	31.691865	15	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164793793	164793793	14792	3	C	A	A	A	416	32	SI	2	2
SLITRK3	22865	broad.mit.edu	37	3	164906589	164906589	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164906589T>A	uc003fej.3	-	c.2030A>T	c.(2029-2031)TAC>TTC	p.Y677F	SLITRK3_uc003fek.2_Missense_Mutation_p.Y677F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	677	Cytoplasmic (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.44964	376.931124	377.541038	125	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164906589	164906589	15242	3	T	A	A	A	741	57	SLITRK3	3	3
SLITRK3	22865	broad.mit.edu	37	3	164908111	164908111	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164908111G>A	uc003fej.3	-	c.508C>T	c.(508-510)CGG>TGG	p.R170W	SLITRK3_uc003fek.2_Missense_Mutation_p.R170W	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	170	LRR 4.|Extracellular (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.05102	-51.292596	53.290434	25	465	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164908111	164908111	15242	3	G	A	A	A	480	37	SLITRK3	1	1
WDR49	151790	broad.mit.edu	37	3	167246931	167246931	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167246931C>G	uc003fev.1	-	c.1259G>C	c.(1258-1260)GGA>GCA	p.G420A	WDR49_uc003feu.1_Missense_Mutation_p.G245A|WDR49_uc011bpd.1_Missense_Mutation_p.G484A|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	420	WD 7.									large_intestine(1)|ovary(1)	2														0.14433	151.626236	210.596755	70	415	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167246931	167246931	17875	3	C	G	G	G	390	30	WDR49	3	3
MECOM	2122	broad.mit.edu	37	3	168833862	168833862	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:168833862C>G	uc011bpj.1	-	c.1798G>C	c.(1798-1800)GAT>CAT	p.D600H	MECOM_uc010hwk.1_Missense_Mutation_p.D435H|MECOM_uc003ffj.3_Missense_Mutation_p.D477H|MECOM_uc003ffi.3_Missense_Mutation_p.D412H|MECOM_uc011bpi.1_Missense_Mutation_p.D413H|MECOM_uc003ffn.3_Missense_Mutation_p.D412H|MECOM_uc003ffk.2_Missense_Mutation_p.D412H|MECOM_uc003ffl.2_Missense_Mutation_p.D572H|MECOM_uc011bpk.1_Missense_Mutation_p.D402H|MECOM_uc010hwn.2_Missense_Mutation_p.D600H	NM_004991	NP_004982	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q13465_after_alignment							sequence-specific DNA binding transcription factor activity			lung(3)|skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	8										646				0.062016	-13.70723	63.705916	24	363	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168833862	168833862	9811	3	C	G	G	G	377	29	MECOM	3	3
LRRC34	151827	broad.mit.edu	37	3	169511466	169511466	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:169511466G>C	uc003ffy.2	-	c.1313C>G	c.(1312-1314)TCT>TGT	p.S438C	LRRC34_uc003ffx.2_Missense_Mutation_p.S406C|LRRC34_uc011bpn.1_3'UTR|LRRC34_uc003ffz.2_Missense_Mutation_p.S390C|LRRC34_uc003fga.3_3'UTR	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	406											0	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)											0.046512	-55.612573	57.543301	24	492	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169511466	169511466	9364	3	G	C	C	C	429	33	LRRC34	3	3
FNDC3B	64778	broad.mit.edu	37	3	172062044	172062044	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172062044G>C	uc003fhy.2	+	c.2246G>C	c.(2245-2247)GGA>GCA	p.G749A	FNDC3B_uc003fhz.3_Missense_Mutation_p.G749A	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	749	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				ovary(1)|breast(1)	2	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)										0.108808	67.082411	125.583526	42	344	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172062044	172062044	6212	3	G	C	C	C	533	41	FNDC3B	3	3
ECT2	1894	broad.mit.edu	37	3	172501634	172501634	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172501634G>C	uc003fil.1	+	c.1663G>C	c.(1663-1665)GAA>CAA	p.E555Q	ECT2_uc010hwv.1_Missense_Mutation_p.E555Q|ECT2_uc003fih.2_Missense_Mutation_p.E523Q|ECT2_uc003fii.2_Missense_Mutation_p.E524Q|ECT2_uc003fij.1_Missense_Mutation_p.E524Q|ECT2_uc003fik.1_Missense_Mutation_p.E524Q	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	524	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(1)|breast(1)|skin(1)	3	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)											0.027548	-64.6629	24.696057	10	353	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172501634	172501634	5088	3	G	C	C	C	585	45	ECT2	3	3
ATP11B	23200	broad.mit.edu	37	3	182616476	182616476	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182616476C>A	uc003flb.2	+	c.3234C>A	c.(3232-3234)CTC>CTA	p.L1078L	ATP11B_uc003flc.2_Silent_p.L662L|ATP11B_uc010hxg.2_Non-coding_Transcript|ATP11B_uc010hxh.1_Silent_p.L20L	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1078	Helical; (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)											0.039171	-69.32628	30.237546	17	417	KEEP	---	---	---	---	capture		Silent	SNP	182616476	182616476	1139	3	C	A	A	A	366	29	ATP11B	2	2
MCCC1	56922	broad.mit.edu	37	3	182812357	182812357	+	Silent	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182812357T>A	uc003fle.2	-	c.126A>T	c.(124-126)ACA>ACT	p.T42T	MCCC1_uc010hxi.2_Non-coding_Transcript|MCCC1_uc011bqo.1_Non-coding_Transcript|MCCC1_uc003flf.2_Missense_Mutation_p.N12Y|MCCC1_uc003flg.2_5'UTR|MCCC1_uc011bqp.1_Silent_p.T42T|MCCC1_uc011bqq.1_5'UTR	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	42					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)									0.141463	39.201279	64.768195	29	176	KEEP	---	---	---	---	capture		Silent	SNP	182812357	182812357	9763	3	T	A	A	A	808	63	MCCC1	3	3
HTR3E	285242	broad.mit.edu	37	3	183824454	183824454	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183824454C>A	uc010hxr.2	+	c.1422C>A	c.(1420-1422)ATC>ATA	p.I474I	HTR3E_uc010hxq.2_Silent_p.I448I|HTR3E_uc003fml.3_Silent_p.I433I|HTR3E_uc003fmm.2_Silent_p.I463I|HTR3E_uc003fmn.2_Silent_p.I448I	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	448	Helical; Name=4; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			Melanoma(7;227 727 6634 44770)								0.1002	28.194864	108.155867	50	449	KEEP	---	---	---	---	capture		Silent	SNP	183824454	183824454	7748	3	C	A	A	A	369	29	HTR3E	2	2
ADIPOQ	9370	broad.mit.edu	37	3	186571979	186571979	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186571979T>C	uc003fra.2	+	c.221T>C	c.(220-222)ATT>ACT	p.I74T	ADIPOQ_uc010hyy.2_Missense_Mutation_p.I74T	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor	74	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)										0.464912	545.984796	546.351144	159	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186571979	186571979	318	3	T	C	C	C	676	52	ADIPOQ	4	4
CLDN16	10686	broad.mit.edu	37	3	190106128	190106128	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:190106128C>T	uc003fsi.2	+	c.220C>T	c.(220-222)CTT>TTT	p.L74F	CLDN16_uc010hze.2_Missense_Mutation_p.L74F	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	74	Helical; (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)										0.212635	333.616044	383.129072	138	511	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190106128	190106128	3613	3	C	T	T	T	416	32	CLDN16	2	2
C3orf59	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:192516720G>C	uc011bsp.1	-	c.931C>G	c.(931-933)CAG>GAG	p.Q311E		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	311											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)										0.054054	-15.473184	31.063102	12	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192516720	192516720	2330	3	G	C	C	C	585	45	C3orf59	3	3
ATP13A4	84239	broad.mit.edu	37	3	193166055	193166055	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:193166055C>G	uc003ftd.2	-	c.2092G>C	c.(2092-2094)GAG>CAG	p.E698Q	ATP13A4_uc003fte.1_Missense_Mutation_p.E698Q|ATP13A4_uc011bsr.1_Missense_Mutation_p.E169Q|ATP13A4_uc010hzi.2_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	698	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)										0.059041	-25.640419	84.681135	32	510	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	193166055	193166055	1145	3	C	G	G	G	416	32	ATP13A4	3	3
ATP13A4	84239	broad.mit.edu	37	3	193220354	193220354	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:193220354G>T	uc003ftd.2	-	c.309C>A	c.(307-309)CTC>CTA	p.L103L	ATP13A4_uc003fte.1_Silent_p.L103L|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	103	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)										0.062771	-32.487978	59.57782	29	433	KEEP	---	---	---	---	capture		Silent	SNP	193220354	193220354	1145	3	G	T	T	T	574	45	ATP13A4	2	2
LSG1	55341	broad.mit.edu	37	3	194380842	194380842	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194380842A>T	uc003fui.2	-	c.542T>A	c.(541-543)GTA>GAA	p.V181E		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	181					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)										0.286689	236.094766	248.045678	84	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	194380842	194380842	9425	3	A	T	T	T	182	14	LSG1	3	3
THRB	7068	broad.mit.edu	37	3	24188166	24188166	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:24188166A>T	uc003ccx.3	-	c.532T>A	c.(532-534)TTG>ATG	p.L178M	THRB_uc010hfe.2_Missense_Mutation_p.L178M|THRB_uc003ccy.3_Missense_Mutation_p.L178M|THRB_uc003ccz.3_Missense_Mutation_p.L173M	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	178	Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	Melanoma(21;896 1043 15021 37958)								0.164384	27.255285	35.060341	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24188166	24188166	16403	3	A	T	T	T	63	5	THRB	3	3
RPSA	3921	broad.mit.edu	37	3	39449255	39449255	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39449255C>T	uc003cjq.2	+	c.111C>T	c.(109-111)TAC>TAT	p.Y37Y	RPSA_uc003cjp.2_Silent_p.Y37Y|RPSA_uc003cjr.2_Silent_p.Y37Y|RPSA_uc003cjt.2_5'Flank|SNORA6_uc003cjs.1_5'Flank	NM_002295	NP_002286	P08865	RSSA_HUMAN	ribosomal protein SA	37					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)										0.192308	10.458388	12.758594	5	21	KEEP	---	---	---	---	capture		Silent	SNP	39449255	39449255	14143	3	C	T	T	T	220	17	RPSA	2	2
LARS2	23395	broad.mit.edu	37	3	45565506	45565506	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45565506C>T	uc003cop.1	+	c.2310C>T	c.(2308-2310)GTC>GTT	p.V770V	LARS2_uc010hit.1_Silent_p.V727V	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	770					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)									0.156627	23.818072	33.160809	13	70	KEEP	---	---	---	---	capture		Silent	SNP	45565506	45565506	8958	3	C	T	T	T	366	29	LARS2	2	2
PFKFB4	5210	broad.mit.edu	37	3	48587554	48587554	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48587554G>A	uc003ctv.2	-	c.211C>T	c.(211-213)CGG>TGG	p.R71W	PFKFB4_uc003ctw.2_5'UTR|PFKFB4_uc010hkc.2_Missense_Mutation_p.R71W|PFKFB4_uc003ctx.2_Missense_Mutation_p.R28W|PFKFB4_uc010hkb.2_Missense_Mutation_p.R71W|PFKFB4_uc011bbm.1_Missense_Mutation_p.R60W|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	71	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)										0.181818	40.041103	50.510323	20	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48587554	48587554	12185	3	G	A	A	A	480	37	PFKFB4	1	1
C3orf67	200844	broad.mit.edu	37	3	58728278	58728278	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58728278T>A	uc003dkt.1	-	c.1601A>T	c.(1600-1602)GAA>GTA	p.E534V	C3orf67_uc003dkr.1_Intron|C3orf67_uc003dks.1_Missense_Mutation_p.E475V	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	529											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)										0.387097	65.582106	66.275714	24	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58728278	58728278	2334	3	T	A	A	A	806	62	C3orf67	3	3
PTPRG	5793	broad.mit.edu	37	3	61989164	61989164	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:61989164C>T	uc003dlb.2	+	c.512C>T	c.(511-513)CCT>CTT	p.P171L	PTPRG_uc003dlc.2_Missense_Mutation_p.P171L	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	171	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)										0.146552	34.59484	48.522244	17	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61989164	61989164	13259	3	C	T	T	T	312	24	PTPRG	2	2
EPHA3	2042	broad.mit.edu	37	3	89448578	89448578	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89448578C>A	uc003dqy.2	+	c.1542C>A	c.(1540-1542)GCC>GCA	p.A514A	EPHA3_uc003dqx.1_Silent_p.A514A|EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	514	Extracellular (Potential).|Fibronectin type-III 2.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.373134	73.457022	74.404414	25	42	KEEP	---	---	---	---	capture		Silent	SNP	89448578	89448578	5361	3	C	A	A	A	288	23	EPHA3	1	1
CENPE	1062	broad.mit.edu	37	4	104061195	104061195	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104061195C>G	uc003hxb.1	-	c.5955G>C	c.(5953-5955)GTG>GTC	p.V1985V	CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1985	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)										0.191176	34.333628	40.394282	13	55	KEEP	---	---	---	---	capture		Silent	SNP	104061195	104061195	3363	4	C	G	G	G	366	29	CENPE	3	3
PDE5A	8654	broad.mit.edu	37	4	120474861	120474861	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:120474861A>T	uc003idh.2	-	c.1240T>A	c.(1240-1242)TAT>AAT	p.Y414N	PDE5A_uc003idf.2_Missense_Mutation_p.Y372N|PDE5A_uc003idg.2_Missense_Mutation_p.Y362N	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	414	GAF 2.				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)									0.358696	96.84984	98.466405	33	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120474861	120474861	12065	4	A	T	T	T	182	14	PDE5A	3	3
BBS7	55212	broad.mit.edu	37	4	122756398	122756398	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122756398T>C	uc003ied.2	-	c.1412A>G	c.(1411-1413)TAT>TGT	p.Y471C	BBS7_uc003iee.1_Missense_Mutation_p.Y471C	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	471					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1														0.141667	35.197538	50.071926	17	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122756398	122756398	1362	4	T	C	C	C	637	49	BBS7	4	4
FAT4	79633	broad.mit.edu	37	4	126373592	126373592	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126373592G>T	uc003ifj.3	+	c.11421G>T	c.(11419-11421)GTG>GTT	p.V3807V	FAT4_uc011cgp.1_Silent_p.V2105V|FAT4_uc003ifi.1_Silent_p.V1285V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3807	Extracellular (Potential).|EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.215385	34.213913	39.073602	14	51	KEEP	---	---	---	---	capture		Silent	SNP	126373592	126373592	5928	4	G	T	T	T	587	46	FAT4	2	2
BOD1L	259282	broad.mit.edu	37	4	13604519	13604519	+	Silent	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13604519T>A	uc003gmz.1	-	c.4005A>T	c.(4003-4005)TCA>TCT	p.S1335S	BOD1L_uc010idr.1_Silent_p.S672S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1335							DNA binding			ovary(5)|breast(1)	6														0.317308	101.541232	104.625517	33	71	KEEP	---	---	---	---	capture		Silent	SNP	13604519	13604519	1508	4	T	A	A	A	704	55	BOD1L	3	3
TAPT1	202018	broad.mit.edu	37	4	16164961	16164961	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:16164961C>A	uc010ied.1	-	c.1674G>T	c.(1672-1674)AGG>AGT	p.R558S	TAPT1_uc011bxd.1_Non-coding_Transcript|TAPT1_uc011bxe.1_Missense_Mutation_p.R447S	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	558						integral to membrane	growth hormone-releasing hormone receptor activity				0														0.292308	166.809767	174.334699	57	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16164961	16164961	16075	4	C	A	A	A	233	18	TAPT1	2	2
MORF4	10934	broad.mit.edu	37	4	174537309	174537309	+	Silent	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174537309G>C	uc011cke.1	-	c.486C>G	c.(484-486)CCC>CCG	p.P162P		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)										0.225182	236.759379	265.343635	93	320	KEEP	---	---	---	---	capture		Silent	SNP	174537309	174537309	10096	4	G	C	C	C	496	39	MORF4	3	3
FAT1	2195	broad.mit.edu	37	4	187539602	187539602	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187539602G>C	uc003izf.2	-	c.8138C>G	c.(8137-8139)TCA>TGA	p.S2713*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2713	Extracellular (Potential).|Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.317881	157.353028	161.801662	48	103	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	187539602	187539602	5925	4	G	C	C	C	585	45	FAT1	5	3
KDR	3791	broad.mit.edu	37	4	55948765	55948765	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55948765C>T	uc003has.2	-	c.3700G>A	c.(3700-3702)GTG>ATG	p.V1234M	KDR_uc003hat.1_Missense_Mutation_p.V1234M	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1234	Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.067961	-11.729946	28.085422	14	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55948765	55948765	8445	4	C	T	T	T	221	17	KDR	2	2
KDR	3791	broad.mit.edu	37	4	55953884	55953884	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55953884C>G	uc003has.2	-	c.3552G>C	c.(3550-3552)TTG>TTC	p.L1184F	KDR_uc003hat.1_Missense_Mutation_p.L1184F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1184	Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.103448	37.030186	82.438803	30	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55953884	55953884	8445	4	C	G	G	G	376	29	KDR	3	3
THAP9	79725	broad.mit.edu	37	4	83839864	83839864	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:83839864C>G	uc003hnt.2	+	c.2499C>G	c.(2497-2499)GTC>GTG	p.V833V	THAP9_uc003hns.1_Silent_p.V689V|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Silent_p.V550V	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	833							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)												0.133333	35.552801	53.169499	18	117	KEEP	---	---	---	---	capture		Silent	SNP	83839864	83839864	16379	4	C	G	G	G	366	29	THAP9	3	3
HELQ	113510	broad.mit.edu	37	4	84369980	84369980	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:84369980C>G	uc003hom.2	-	c.1147G>C	c.(1147-1149)GAT>CAT	p.D383H	HELQ_uc010ikb.2_Missense_Mutation_p.D383H|HELQ_uc003hol.3_Non-coding_Transcript|HELQ_uc010ikc.2_Non-coding_Transcript|HELQ_uc003hon.1_Missense_Mutation_p.D277H	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	383	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)	2														0.116402	31.127695	58.732005	22	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84369980	84369980	7330	4	C	G	G	G	416	32	HELQ	3	3
NUDT9	53343	broad.mit.edu	37	4	88344162	88344162	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88344162C>G	uc003hqq.2	+	c.105C>G	c.(103-105)TTC>TTG	p.F35L	NUDT9_uc003hqr.2_Intron|NUDT9_uc010ikl.2_Missense_Mutation_p.F35L	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	nudix-type motif 9 isoform a	35						mitochondrion	ADP-ribose diphosphatase activity				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)										0.305263	90.636642	93.851657	29	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88344162	88344162	11151	4	C	G	G	G	376	29	NUDT9	3	3
FAM190A	401145	broad.mit.edu	37	4	91230572	91230572	+	Silent	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:91230572A>G	uc003hsv.3	+	c.1137A>G	c.(1135-1137)TTA>TTG	p.L379L	FAM190A_uc003hsu.3_Silent_p.L379L|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.2_Silent_p.L379L	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	379										large_intestine(1)|ovary(1)	2														0.311927	111.415217	114.845221	34	75	KEEP	---	---	---	---	capture		Silent	SNP	91230572	91230572	5732	4	A	G	G	G	180	14	FAM190A	4	4
FAM190A	401145	broad.mit.edu	37	4	91389423	91389423	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:91389423G>A	uc003hsv.3	+	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.2_Missense_Mutation_p.A548T	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	548										large_intestine(1)|ovary(1)	2														0.333333	31.079282	31.969279	12	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91389423	91389423	5732	4	G	A	A	A	598	46	FAM190A	2	2
DRD5	1816	broad.mit.edu	37	4	9783935	9783935	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9783935C>G	uc003gmb.3	+	c.282C>G	c.(280-282)GTC>GTG	p.V94V		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	94	Helical; Name=2; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.123596	17.759165	30.100688	11	78	KEEP	---	---	---	---	capture		Silent	SNP	9783935	9783935	4944	4	C	G	G	G	366	29	DRD5	3	3
FBXL17	64839	broad.mit.edu	37	5	107216863	107216863	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:107216863G>A	uc011cvc.1	-	c.1840C>T	c.(1840-1842)CGA>TGA	p.R614*	FBXL17_uc003kon.3_Nonsense_Mutation_p.R216*	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	614											0		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)										0.161074	42.547072	58.804747	24	125	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	107216863	107216863	5950	5	G	A	A	A	493	38	FBXL17	5	1
WDR36	134430	broad.mit.edu	37	5	110448812	110448812	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:110448812A>G	uc003kpd.2	+	c.1924A>G	c.(1924-1926)ATG>GTG	p.M642V	WDR36_uc010jbu.2_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	642	WD 8.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)	1		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)										0.25	49.813053	53.91037	18	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110448812	110448812	17863	5	A	G	G	G	156	12	WDR36	4	4
SEC24A	10802	broad.mit.edu	37	5	134022559	134022559	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134022559C>A	uc003kzs.2	+	c.1571C>A	c.(1570-1572)TCA>TAA	p.S524*	SEC24A_uc011cxu.1_Nonsense_Mutation_p.S288*	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	524					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.134831	18.735502	30.243517	12	77	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134022559	134022559	14480	5	C	A	A	A	377	29	SEC24A	5	2
BRD8	10902	broad.mit.edu	37	5	137480931	137480931	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137480931G>A	uc003lcf.1	-	c.3372C>T	c.(3370-3372)TTC>TTT	p.F1124F	BRD8_uc003lcc.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1124	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.128319	40.224131	70.643159	29	197	KEEP	---	---	---	---	capture		Silent	SNP	137480931	137480931	1537	5	G	A	A	A	581	45	BRD8	2	2
PCDHA9	9752	broad.mit.edu	37	5	140230315	140230316	+	Missense_Mutation	DNP	GG	TC	TC			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140230315_140230316GG>TC	uc003lhu.2	+	c.2235_2236GG>TC	c.(2233-2238)GTGGGG>GTTCGG	p.G746R	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_uc003lht.1_Missense_Mutation_p.G746R	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	746	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(55;1800 1972 14909)								0.137931	15.612292	26.708093	12	75	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	140230315	140230316	11951	5	GG	TC	TC	TC	600	47	PCDHA9	2	2
PCDHB10	56126	broad.mit.edu	37	5	140572961	140572961	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140572961A>G	uc003lix.2	+	c.836A>G	c.(835-837)TAT>TGT	p.Y279C		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	279	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.484536	331.039605	331.079769	94	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140572961	140572961	11955	5	A	G	G	G	208	16	PCDHB10	4	4
PCDHB15	56121	broad.mit.edu	37	5	140626753	140626753	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140626753G>A	uc003lje.2	+	c.1607G>A	c.(1606-1608)CGC>CAC	p.R536H		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	536	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.411765	76.385985	76.848083	28	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140626753	140626753	11960	5	G	A	A	A	494	38	PCDHB15	1	1
PCDHGA3	56112	broad.mit.edu	37	5	140724478	140724479	+	Missense_Mutation	DNP	AT	TA	TA			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140724478_140724479AT>TA	uc003ljm.1	+	c.878_879AT>TA	c.(877-879)CAT>CTA	p.H293L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.H53L|PCDHGA3_uc011dap.1_Missense_Mutation_p.H293L	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	293	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.075758	-0.577277	11.600402	5	61	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	140724478	140724479	11975	5	AT	TA	TA	TA	104	8	PCDHGA3	3	3
PCDHGA4	56111	broad.mit.edu	37	5	140734986	140734986	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140734986G>T	uc003ljq.1	+	c.219G>T	c.(217-219)CAG>CAT	p.Q73H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q73H	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	73	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.09322	-10.696378	9.152443	11	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140734986	140734986	11976	5	G	T	T	T	438	34	PCDHGA4	2	2
PCDHGB4	8641	broad.mit.edu	37	5	140769598	140769598	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140769598C>G	uc003lkc.1	+	c.2147C>G	c.(2146-2148)TCC>TGC	p.S716C	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.S716C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	716	Cytoplasmic (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)											0.290323	135.711213	141.896169	45	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140769598	140769598	11985	5	C	G	G	G	390	30	PCDHGB4	3	3
PCDHGA8	9708	broad.mit.edu	37	5	140774000	140774000	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140774000G>A	uc003lkd.1	+	c.1620G>A	c.(1618-1620)CCG>CCA	p.P540P	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_uc003lkb.3_Silent_p.P540P	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	540	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)											0.633803	141.088229	142.207935	45	26	KEEP	---	---	---	---	capture		Silent	SNP	140774000	140774000	11980	5	G	A	A	A	483	38	PCDHGA8	1	1
PCDHGA9	56107	broad.mit.edu	37	5	140783387	140783387	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140783387C>G	uc003lkh.1	+	c.868C>G	c.(868-870)CTG>GTG	p.L290V	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_Missense_Mutation_p.L290V	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	290	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.096491	11.732924	30.344794	11	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140783387	140783387	11981	5	C	G	G	G	415	32	PCDHGA9	3	3
MYO10	4651	broad.mit.edu	37	5	16699618	16699618	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16699618C>T	uc003jft.3	-	c.3497G>A	c.(3496-3498)CGT>CAT	p.R1166H	MYO10_uc011cnc.1_Missense_Mutation_p.R45H|MYO10_uc011cnd.1_Missense_Mutation_p.R523H|MYO10_uc011cne.1_Missense_Mutation_p.R523H|MYO10_uc010itx.2_Missense_Mutation_p.R789H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1166					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.246377	77.58586	85.670389	34	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16699618	16699618	10457	5	C	T	T	T	247	19	MYO10	1	1
WWC1	23286	broad.mit.edu	37	5	167833266	167833266	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167833266G>C	uc011den.1	+	c.654G>C	c.(652-654)TTG>TTC	p.L218F	WWC1_uc003lzv.2_Missense_Mutation_p.L218F|WWC1_uc003lzu.2_Missense_Mutation_p.L218F|WWC1_uc003lzw.2_Missense_Mutation_p.L17F	NM_001161661	NP_001155133	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 1	218					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|breast(1)	3	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)										0.134328	110.901162	162.999813	54	348	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167833266	167833266	17985	5	G	C	C	C	581	45	WWC1	3	3
GFPT2	9945	broad.mit.edu	37	5	179743458	179743458	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179743458G>A	uc003mlw.1	-	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	386	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)	1	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)									0.301205	66.146659	69.074161	25	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179743458	179743458	6614	5	G	A	A	A	493	38	GFPT2	1	1
IRX2	153572	broad.mit.edu	37	5	2747724	2747724	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:2747724C>T	uc003jda.2	-	c.1370G>A	c.(1369-1371)AGC>AAC	p.S457N	IRX2_uc003jdb.2_Missense_Mutation_p.S457N	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	457					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)										0.075	-1.099291	6.308471	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2747724	2747724	8148	5	C	T	T	T	364	28	IRX2	2	2
DAB2	1601	broad.mit.edu	37	5	39388916	39388916	+	Silent	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39388916A>T	uc003jlx.2	-	c.609T>A	c.(607-609)ACT>ACA	p.T203T	DAB2_uc003jlw.2_Silent_p.T203T	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	203					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)											0.135922	24.008574	37.207367	14	89	KEEP	---	---	---	---	capture		Silent	SNP	39388916	39388916	4384	5	A	T	T	T	184	15	DAB2	3	3
C5orf28	64417	broad.mit.edu	37	5	43454051	43454051	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43454051C>G	uc003jny.2	-	c.21G>C	c.(19-21)AAG>AAC	p.K7N	C5orf28_uc003jnv.3_Missense_Mutation_p.K7N|C5orf28_uc003jnx.2_Missense_Mutation_p.K7N	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	hypothetical protein LOC64417	7						integral to membrane					0	Lung NSC(6;2.07e-05)													0.320755	159.181078	163.769887	51	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43454051	43454051	2387	5	C	G	G	G	415	32	C5orf28	3	3
SLC9A3	6550	broad.mit.edu	37	5	485292	485292	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:485292C>T	uc003jbe.2	-	c.730G>A	c.(730-732)GGC>AGC	p.G244S	SLC9A3_uc011clx.1_Missense_Mutation_p.G244S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	244	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)											0.25	7.017575	7.700816	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	485292	485292	15210	5	C	T	T	T	273	21	SLC9A3	2	2
ERBB2IP	55914	broad.mit.edu	37	5	65346683	65346683	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:65346683C>G	uc011cqx.1	+	c.1976C>G	c.(1975-1977)TCT>TGT	p.S659C	ERBB2IP_uc003jui.1_Missense_Mutation_p.S659C|ERBB2IP_uc003juj.1_Missense_Mutation_p.S659C|ERBB2IP_uc003juk.1_Missense_Mutation_p.S659C|ERBB2IP_uc011cqy.1_Missense_Mutation_p.S659C|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.S655C|ERBB2IP_uc003jul.1_Missense_Mutation_p.S655C	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	659					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(1)	6		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)										0.189189	71.312106	84.841805	28	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65346683	65346683	5400	5	C	G	G	G	416	32	ERBB2IP	3	3
GCNT4	51301	broad.mit.edu	37	5	74325216	74325216	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74325216G>C	uc003kdn.2	-	c.647C>G	c.(646-648)TCT>TGT	p.S216C		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	216	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)										0.15625	72.45838	97.760393	35	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74325216	74325216	6569	5	G	C	C	C	429	33	GCNT4	3	3
IQGAP2	10788	broad.mit.edu	37	5	75858224	75858224	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75858224G>T	uc003kek.2	+	c.150G>T	c.(148-150)TGG>TGT	p.W50C		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	50	CH.				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)										0.139535	9.220104	14.618141	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75858224	75858224	8118	5	G	T	T	T	533	41	IQGAP2	2	2
CMYA5	202333	broad.mit.edu	37	5	79031334	79031334	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79031334C>T	uc003kgc.2	+	c.6746C>T	c.(6745-6747)CCC>CTC	p.P2249L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2249						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)										0.188406	118.263839	143.249079	52	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79031334	79031334	3728	5	C	T	T	T	286	22	CMYA5	2	2
BEND3	57673	broad.mit.edu	37	6	107390755	107390755	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107390755T>G	uc003prs.2	-	c.1640A>C	c.(1639-1641)GAG>GCG	p.E547A		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	547										ovary(3)	3														0.146341	10.622485	15.5526	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107390755	107390755	1422	6	T	G	G	G	702	54	BEND3	4	4
SEC63	11231	broad.mit.edu	37	6	108215098	108215098	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108215098C>G	uc003psc.3	-	c.1444G>C	c.(1444-1446)GTA>CTA	p.V482L	SEC63_uc003psb.3_Missense_Mutation_p.V342L	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	482	SEC63 1.|Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)										0.179104	31.059576	37.549864	12	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108215098	108215098	14491	6	C	G	G	G	260	20	SEC63	3	3
MICAL1	64780	broad.mit.edu	37	6	109775325	109775325	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:109775325G>T	uc011eaq.1	-	c.132C>A	c.(130-132)GAC>GAA	p.D44E	MICAL1_uc003ptj.2_Missense_Mutation_p.D25E|MICAL1_uc003ptk.2_Missense_Mutation_p.D25E|MICAL1_uc010kdr.2_Missense_Mutation_p.D25E	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	25					cytoskeleton organization|oxidation-reduction process|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)										0.294118	14.268099	14.913086	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109775325	109775325	9959	6	G	T	T	T	516	40	MICAL1	1	1
HDAC2	3066	broad.mit.edu	37	6	114277315	114277315	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:114277315G>A	uc003pwd.1	-	c.641C>T	c.(640-642)GCT>GTT	p.A214V	HDAC2_uc003pwc.1_Missense_Mutation_p.A90V|HDAC2_uc003pwe.1_Missense_Mutation_p.A90V	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	histone deacetylase 2	120	Histone deacetylase.				blood coagulation|chromatin remodeling|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of MHC class II biosynthetic process|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of collagen biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteolysis|positive regulation of receptor biosynthetic process	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|central_nervous_system(1)	3		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)					302				0.184211	47.202919	57.871398	21	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114277315	114277315	7290	6	G	A	A	A	442	34	HDAC2	2	2
HS3ST5	222537	broad.mit.edu	37	6	114378979	114378979	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:114378979G>A	uc003pwg.3	-	c.483C>T	c.(481-483)ATC>ATT	p.I161I	HS3ST5_uc003pwh.3_Silent_p.I161I	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	161	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)										0.160156	157.774512	214.036373	82	430	KEEP	---	---	---	---	capture		Silent	SNP	114378979	114378979	7662	6	G	A	A	A	577	45	HS3ST5	2	2
HIVEP1	3096	broad.mit.edu	37	6	12122360	12122360	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:12122360G>A	uc003nac.2	+	c.2332G>A	c.(2332-2334)GGA>AGA	p.G778R	HIVEP1_uc011diq.1_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	778					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.178082	60.898361	75.113395	26	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12122360	12122360	7477	6	G	A	A	A	455	35	HIVEP1	2	2
TRDN	10345	broad.mit.edu	37	6	123539799	123539799	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123539799C>T	uc003pzj.1	-	c.2137G>A	c.(2137-2139)GGA>AGA	p.G713R	TRDN_uc010kem.1_Missense_Mutation_p.G214R	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	713	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)										0.093023	0.963903	8.134313	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123539799	123539799	17012	6	C	T	T	T	273	21	TRDN	2	2
THEMIS	387357	broad.mit.edu	37	6	128134122	128134122	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128134122G>A	uc011ebt.1	-	c.1664C>T	c.(1663-1665)CCT>CTT	p.P555L	THEMIS_uc010kfa.2_Missense_Mutation_p.P458L|THEMIS_uc003qbi.2_Missense_Mutation_p.P555L|THEMIS_uc010kfb.2_Missense_Mutation_p.P520L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	555					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)	2														0.293532	164.15401	171.82061	59	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128134122	128134122	16388	6	G	A	A	A	455	35	THEMIS	2	2
SYNE1	23345	broad.mit.edu	37	6	152464792	152464792	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152464792G>A	uc010kiw.2	-	c.25085C>T	c.(25084-25086)ACG>ATG	p.T8362M	SYNE1_uc010kiv.2_Missense_Mutation_p.T2886M|SYNE1_uc003qos.3_Missense_Mutation_p.T2886M|SYNE1_uc003qot.3_Missense_Mutation_p.T8314M|SYNE1_uc003qou.3_Missense_Mutation_p.T8362M|SYNE1_uc003qop.3_Missense_Mutation_p.T547M|SYNE1_uc011eez.1_Missense_Mutation_p.T564M|SYNE1_uc003qoq.3_Missense_Mutation_p.T564M|SYNE1_uc003qor.3_Missense_Mutation_p.T1285M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8362	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.292365	398.893323	419.686096	157	380	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152464792	152464792	15966	6	G	A	A	A	520	40	SYNE1	1	1
SYNE1	23345	broad.mit.edu	37	6	152673179	152673179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152673179G>A	uc010kiw.2	-	c.11563C>T	c.(11563-11565)CAG>TAG	p.Q3855*	SYNE1_uc003qot.3_Nonsense_Mutation_p.Q3840*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q3855*|SYNE1_uc010kja.1_Nonsense_Mutation_p.Q560*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3855	Cytoplasmic (Potential).|Spectrin 9.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.076923	-2.222949	19.224723	9	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152673179	152673179	15966	6	G	A	A	A	585	45	SYNE1	5	2
ZDHHC14	79683	broad.mit.edu	37	6	157963722	157963722	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:157963722C>T	uc003qqt.2	+	c.351C>T	c.(349-351)CCC>CCT	p.P117P	ZDHHC14_uc003qqs.2_Silent_p.P117P|ZDHHC14_uc010kjm.1_Silent_p.P12P	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	117						integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)										0.090909	1.504124	7.067692	3	30	KEEP	---	---	---	---	capture		Silent	SNP	157963722	157963722	18192	6	C	T	T	T	288	23	ZDHHC14	1	1
TULP4	56995	broad.mit.edu	37	6	158902136	158902136	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158902136C>T	uc003qrf.2	+	c.1301C>T	c.(1300-1302)TCA>TTA	p.S434L	TULP4_uc011efo.1_Missense_Mutation_p.S434L|TULP4_uc003qrg.2_Missense_Mutation_p.S434L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	434					intracellular signal transduction|regulation of transcription, DNA-dependent|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)										0.145078	39.545428	62.995795	28	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158902136	158902136	17331	6	C	T	T	T	377	29	TULP4	2	2
MAP3K4	4216	broad.mit.edu	37	6	161519344	161519344	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161519344G>T	uc003qtn.2	+	c.3559G>T	c.(3559-3561)GGC>TGC	p.G1187C	MAP3K4_uc010kkc.1_Missense_Mutation_p.G1183C|MAP3K4_uc003qto.2_Intron|MAP3K4_uc011efz.1_Non-coding_Transcript|MAP3K4_uc011ega.1_Missense_Mutation_p.G640C|MAP3K4_uc003qtp.2_Intron|MAP3K4_uc003qtq.2_5'Flank	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1187					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)						511				0.084112	1.591747	20.38495	9	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161519344	161519344	9635	6	G	T	T	T	611	47	MAP3K4	2	2
FAM120B	84498	broad.mit.edu	37	6	170657264	170657264	+	Silent	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170657264A>G	uc003qxp.2	+	c.2043A>G	c.(2041-2043)TTA>TTG	p.L681L	FAM120B_uc003qxo.1_Silent_p.L681L|FAM120B_uc011ehd.1_Silent_p.L13L|FAM120B_uc010kla.1_Non-coding_Transcript	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	681					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)										0.0625	-3.624757	15.520325	6	90	KEEP	---	---	---	---	capture		Silent	SNP	170657264	170657264	5614	6	A	G	G	G	206	16	FAM120B	4	4
ZNF322A	79692	broad.mit.edu	37	6	26637642	26637642	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26637642G>A	uc003nil.3	-	c.1140C>T	c.(1138-1140)GTC>GTT	p.V380V	ZNF322A_uc003nij.2_5'Flank	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322A	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0														0.029412	-54.80703	19.670022	9	297	KEEP	---	---	---	---	capture		Silent	SNP	26637642	26637642	18433	6	G	A	A	A	418	33	ZNF322A	2	2
UBD	10537	broad.mit.edu	37	6	29523863	29523863	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29523863C>T	uc003nmo.2	-	c.292G>A	c.(292-294)GAG>AAG	p.E98K	GABBR1_uc003nmp.3_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	ubiquitin D	98	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding				0														0.193277	98.043501	118.922025	46	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29523863	29523863	17400	6	C	T	T	T	377	29	UBD	2	2
LTA	4049	broad.mit.edu	37	6	31540595	31540595	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31540595C>A	uc011dnu.1	+	c.76C>A	c.(76-78)CTG>ATG	p.L26M	LTA_uc003nue.1_Missense_Mutation_p.L26M|LTA_uc003nuf.2_5'Flank|LTA_uc003nuh.2_5'Flank|LTA_uc003nug.2_5'Flank|LTA_uc010jsr.2_5'Flank|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	26					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)									0.074074	-6.097928	14.088972	8	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31540595	31540595	9444	6	C	A	A	A	363	28	LTA	2	2
TNXB	7148	broad.mit.edu	37	6	32018016	32018016	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32018016C>T	uc003nzl.2	-	c.9192G>A	c.(9190-9192)CTG>CTA	p.L3064L		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3111	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.102273	3.391708	17.339792	9	79	KEEP	---	---	---	---	capture		Silent	SNP	32018016	32018016	16887	6	C	T	T	T	366	29	TNXB	2	2
TNXB	7148	broad.mit.edu	37	6	32039851	32039851	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32039851C>G	uc003nzl.2	-	c.4906G>C	c.(4906-4908)GAA>CAA	p.E1636Q		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1718	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.142857	7.112142	9.691584	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32039851	32039851	16887	6	C	G	G	G	390	30	TNXB	3	3
KIF6	221458	broad.mit.edu	37	6	39328278	39328278	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39328278C>A	uc003oot.2	-	c.1975G>T	c.(1975-1977)GCC>TCC	p.A659S	KIF6_uc003oos.2_Missense_Mutation_p.A110S|KIF6_uc010jwz.1_Missense_Mutation_p.A34S|KIF6_uc010jxa.1_Missense_Mutation_p.A450S|KIF6_uc011dua.1_Missense_Mutation_p.A642S|KIF6_uc010jxb.1_Missense_Mutation_p.A603S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	659	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.15	21.176167	32.915935	15	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39328278	39328278	8619	6	C	A	A	A	364	28	KIF6	2	2
TJAP1	93643	broad.mit.edu	37	6	43472676	43472676	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43472676G>T	uc003ovd.2	+	c.757G>T	c.(757-759)GGG>TGG	p.G253W	TJAP1_uc003ovf.2_Missense_Mutation_p.G243W|TJAP1_uc003ove.2_Missense_Mutation_p.G243W|TJAP1_uc003ovc.2_Missense_Mutation_p.G243W|TJAP1_uc010jyp.2_Missense_Mutation_p.G212W|TJAP1_uc011dvh.1_Missense_Mutation_p.G243W|TJAP1_uc003ovg.2_Missense_Mutation_p.G119W|TJAP1_uc011dvi.1_Missense_Mutation_p.G253W|TJAP1_uc011dvj.1_Missense_Mutation_p.G53W|TJAP1_uc003ovi.2_Missense_Mutation_p.G119W	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 isoform a	253						Golgi apparatus|tight junction	protein binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)											0.277311	91.808959	97.007845	33	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43472676	43472676	16457	6	G	T	T	T	507	39	TJAP1	1	1
TMEM63B	55362	broad.mit.edu	37	6	44121558	44121558	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44121558C>T	uc003owr.2	+	c.2088C>T	c.(2086-2088)CTC>CTT	p.L696L	TMEM63B_uc003ows.2_Silent_p.L599L|TMEM63B_uc010jyz.2_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	696	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)											0.148148	19.246686	28.879885	12	69	KEEP	---	---	---	---	capture		Silent	SNP	44121558	44121558	16730	6	C	T	T	T	405	32	TMEM63B	2	2
KIAA1586	57691	broad.mit.edu	37	6	56918096	56918096	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56918096G>C	uc003pdj.2	+	c.799G>C	c.(799-801)GAG>CAG	p.E267Q	KIAA1586_uc011dxm.1_Missense_Mutation_p.E240Q	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	267							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)											0.122449	11.633338	18.454658	6	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56918096	56918096	8554	6	G	C	C	C	585	45	KIAA1586	3	3
OOEP	441161	broad.mit.edu	37	6	74078997	74078997	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:74078997C>G	uc003pgu.3	-	c.302G>C	c.(301-303)CGT>CCT	p.R101P	OOEP_uc003pgv.3_Missense_Mutation_p.R46P	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	101	KH; atypical.					cytoplasm					0														0.156863	17.07182	22.797588	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74078997	74078997	11276	6	C	G	G	G	247	19	OOEP	3	3
KIAA1009	22832	broad.mit.edu	37	6	84913699	84913699	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84913699C>A	uc010kbp.2	-	c.687G>T	c.(685-687)CAG>CAT	p.Q229H	KIAA1009_uc003pkj.3_Missense_Mutation_p.Q153H|KIAA1009_uc003pkk.2_Missense_Mutation_p.Q229H	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	229					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)										0.263736	65.270659	69.856273	24	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84913699	84913699	8510	6	C	A	A	A	311	24	KIAA1009	2	2
CNR1	1268	broad.mit.edu	37	6	88854043	88854043	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:88854043G>T	uc011dzq.1	-	c.951C>A	c.(949-951)ATC>ATA	p.I317I	CNR1_uc010kbz.2_Silent_p.I317I|CNR1_uc011dzr.1_Silent_p.I317I|CNR1_uc011dzs.1_Silent_p.I317I|CNR1_uc003pmq.3_Silent_p.I317I|CNR1_uc011dzt.1_Silent_p.I317I|CNR1_uc010kca.2_Silent_p.I284I	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	317	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding				0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)									0.222222	50.503213	57.527175	22	77	KEEP	---	---	---	---	capture		Silent	SNP	88854043	88854043	3769	6	G	T	T	T	577	45	CNR1	2	2
ZAN	7455	broad.mit.edu	37	7	100388610	100388610	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100388610C>T	uc003uwj.2	+	c.7404C>T	c.(7402-7404)TGC>TGT	p.C2468C	ZAN_uc003uwk.2_Silent_p.C2468C|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2468	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)											0.170732	11.805589	15.932507	7	34	KEEP	---	---	---	---	capture		Silent	SNP	100388610	100388610	18096	7	C	T	T	T	350	27	ZAN	1	1
RELN	5649	broad.mit.edu	37	7	103207175	103207175	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103207175C>T	uc003vca.2	-	c.4620G>A	c.(4618-4620)GGG>GGA	p.G1540G	RELN_uc010liz.2_Silent_p.G1540G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1540	BNR 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.045455	-16.342158	12.770242	6	126	KEEP	---	---	---	---	capture		Silent	SNP	103207175	103207175	13689	7	C	T	T	T	379	30	RELN	2	2
MET	4233	broad.mit.edu	37	7	116339633	116339633	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116339633G>A	uc010lkh.2	+	c.495G>A	c.(493-495)CAG>CAA	p.Q165Q	MET_uc003vij.2_Silent_p.Q165Q|MET_uc011knc.1_Silent_p.Q165Q|MET_uc011knd.1_Silent_p.Q165Q|MET_uc011kne.1_Silent_p.Q165Q|MET_uc011knf.1_Silent_p.Q165Q|MET_uc011kng.1_Silent_p.Q165Q|MET_uc011knh.1_Silent_p.Q165Q|MET_uc011kni.1_Silent_p.Q165Q|MET_uc003vii.1_Silent_p.Q184Q|MET_uc010lkg.2_Silent_p.Q165Q|MET_uc011kmz.1_Silent_p.Q165Q|MET_uc011kna.1_Silent_p.Q165Q|MET_uc011knb.1_Silent_p.Q165Q	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	165	Extracellular (Potential).|Sema.				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)							299				0.257732	201.790189	217.268857	75	216	KEEP	---	---	---	---	capture		Silent	SNP	116339633	116339633	9874	7	G	A	A	A	425	33	MET	2	2
METTL2B	55798	broad.mit.edu	37	7	128119565	128119565	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128119565G>C	uc003vnf.2	+	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	METTL2B_uc003vng.2_Missense_Mutation_p.E121Q|METTL2B_uc011kop.1_Missense_Mutation_p.E50Q	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	186							methyltransferase activity				0														0.059406	-3.433682	17.080716	6	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128119565	128119565	9890	7	G	C	C	C	533	41	METTL2B	3	3
CALU	813	broad.mit.edu	37	7	128399895	128399895	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128399895A>G	uc003vns.2	+	c.632A>G	c.(631-633)GAA>GGA	p.E211G	CALU_uc003vnq.2_Missense_Mutation_p.E211G|CALU_uc003vnr.2_Missense_Mutation_p.E211G	NM_001130674	NP_001124146	O43852	CALU_HUMAN	calumenin isoform b precursor	211	4 (Potential).|EF-hand 4.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding				0														0.183673	21.744172	26.346993	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128399895	128399895	2711	7	A	G	G	G	117	9	CALU	4	4
UBN2	254048	broad.mit.edu	37	7	138969127	138969127	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138969127G>C	uc011kqr.1	+	c.3476G>C	c.(3475-3477)GGG>GCG	p.G1159A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1159	Ser-rich.									ovary(1)	1														0.157895	24.250612	32.733088	12	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138969127	138969127	17451	7	G	C	C	C	559	43	UBN2	3	3
MGAM	8972	broad.mit.edu	37	7	141755366	141755366	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141755366C>T	uc003vwy.2	+	c.3323C>T	c.(3322-3324)TCT>TTT	p.S1108F		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1108	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.111111	15.689578	33.182306	13	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141755366	141755366	9931	7	C	T	T	T	416	32	MGAM	2	2
AGAP3	116988	broad.mit.edu	37	7	150825706	150825706	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150825706G>C	uc003wjg.1	+	c.1261G>C	c.(1261-1263)GAG>CAG	p.E421Q	AGAP3_uc003wje.1_Missense_Mutation_p.E193Q	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	385	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3														0.166667	8.68783	11.21412	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150825706	150825706	371	7	G	C	C	C	533	41	AGAP3	3	3
NOM1	64434	broad.mit.edu	37	7	156746815	156746815	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:156746815G>T	uc003wmy.2	+	c.1131G>T	c.(1129-1131)ATG>ATT	p.M377I		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	377	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)										0.254545	37.926489	40.931367	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156746815	156746815	10933	7	G	T	T	T	611	47	NOM1	2	2
AHR	196	broad.mit.edu	37	7	17382562	17382562	+	Silent	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:17382562A>G	uc011jxz.1	+	c.2421A>G	c.(2419-2421)TTA>TTG	p.L807L	AHR_uc003stt.3_Non-coding_Transcript	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	807				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|promoter binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)													0.380753	316.166187	319.146985	91	148	KEEP	---	---	---	---	capture		Silent	SNP	17382562	17382562	419	7	A	G	G	G	167	13	AHR	4	4
MACC1	346389	broad.mit.edu	37	7	20198442	20198442	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20198442G>A	uc003sus.3	-	c.1542C>T	c.(1540-1542)CTC>CTT	p.L514L	MACC1_uc010kug.2_Silent_p.L514L	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	514					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)	2														0.082153	9.826766	72.514873	29	324	KEEP	---	---	---	---	capture		Silent	SNP	20198442	20198442	9520	7	G	A	A	A	418	33	MACC1	2	2
ABCB5	340273	broad.mit.edu	37	7	20721220	20721220	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20721220G>A	uc010kuh.2	+	c.1800G>A	c.(1798-1800)CTG>CTA	p.L600L	ABCB5_uc003suw.3_Silent_p.L155L	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	155	ABC transporter 1.|Extracellular (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.119318	24.957182	49.994252	21	155	KEEP	---	---	---	---	capture		Silent	SNP	20721220	20721220	45	7	G	A	A	A	600	47	ABCB5	2	2
PDE1C	5137	broad.mit.edu	37	7	31890312	31890312	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31890312G>T	uc003tco.1	-	c.974C>A	c.(973-975)GCT>GAT	p.A325D	PDE1C_uc003tcm.1_Missense_Mutation_p.A265D|PDE1C_uc003tcn.1_Missense_Mutation_p.A265D|PDE1C_uc003tcr.2_Missense_Mutation_p.A265D|PDE1C_uc003tcs.2_Missense_Mutation_p.A265D	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	265	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.341772	152.718979	156.206244	54	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31890312	31890312	12056	7	G	T	T	T	442	34	PDE1C	2	2
RABGEF1	27342	broad.mit.edu	37	7	66270236	66270236	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:66270236G>A	uc011kee.1	+	c.972G>A	c.(970-972)GCG>GCA	p.A324A	RABGEF1_uc003tvf.2_Silent_p.A183A|RABGEF1_uc003tvg.2_Silent_p.A118A|RABGEF1_uc010lag.2_Silent_p.A310A|RABGEF1_uc003tvh.2_Silent_p.A310A|RABGEF1_uc003tvi.2_Silent_p.A144A	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	527	VPS9.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1														0.038462	-28.492908	13.370955	7	175	KEEP	---	---	---	---	capture		Silent	SNP	66270236	66270236	13425	7	G	A	A	A	509	40	RABGEF1	1	1
DMTF1	9988	broad.mit.edu	37	7	86800322	86800322	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:86800322G>C	uc003uih.2	+	c.244G>C	c.(244-246)GAT>CAT	p.D82H	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_5'UTR|DMTF1_uc003uik.2_Non-coding_Transcript|DMTF1_uc003uil.2_Missense_Mutation_p.D82H|DMTF1_uc003uim.1_Missense_Mutation_p.D82H|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	82	Interaction with CCND2 (By similarity).				cell cycle|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)													0.150943	18.463489	24.650479	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86800322	86800322	4774	7	G	C	C	C	585	45	DMTF1	3	3
ABCB1	5243	broad.mit.edu	37	7	87174182	87174182	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87174182C>A	uc003uiz.1	-	c.2021G>T	c.(2020-2022)GGA>GTA	p.G674V	ABCB1_uc011khc.1_Missense_Mutation_p.G610V	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	674	Cytoplasmic (Potential).					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.148148	50.347386	76.054725	32	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87174182	87174182	41	7	C	A	A	A	390	30	ABCB1	2	2
TFPI2	7980	broad.mit.edu	37	7	93519512	93519512	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:93519512C>T	uc003unb.1	-	c.208G>A	c.(208-210)GAG>AAG	p.E70K	GNGT1_uc003umx.1_Intron|TFPI2_uc003umy.1_Missense_Mutation_p.E70K|TFPI2_uc003umz.1_Missense_Mutation_p.E70K|TFPI2_uc003una.1_Missense_Mutation_p.E59K|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	70	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)											0.144144	23.802052	37.284958	16	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93519512	93519512	16337	7	C	T	T	T	403	31	TFPI2	1	1
TRHR	7201	broad.mit.edu	37	8	110100053	110100053	+	Silent	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110100053C>A	uc003ymz.3	+	c.312C>A	c.(310-312)CTC>CTA	p.L104L		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	104	Helical; Name=3; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity				0			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)											0.269122	224.324352	241.277127	95	258	KEEP	---	---	---	---	capture		Silent	SNP	110100053	110100053	17024	8	C	A	A	A	379	30	TRHR	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110432765	110432765	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110432765T>A	uc003yne.2	+	c.2543T>A	c.(2542-2544)CTT>CAT	p.L848H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	848	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)											0.34	49.45687	50.589704	17	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110432765	110432765	12397	8	T	A	A	A	728	56	PKHD1L1	3	3
ENPP2	5168	broad.mit.edu	37	8	120608147	120608147	+	Silent	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120608147C>T	uc003yos.1	-	c.1068G>A	c.(1066-1068)AAG>AAA	p.K356K	ENPP2_uc003yor.1_5'Flank|ENPP2_uc003yot.1_Intron|ENPP2_uc010mdd.1_Intron	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	autotaxin isoform 1 preproprotein	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)	6	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			Melanoma(20;305 879 2501 4818 31020)								0.268966	102.751468	109.744304	39	106	KEEP	---	---	---	---	capture		Silent	SNP	120608147	120608147	5323	8	C	T	T	T	415	32	ENPP2	2	2
TAF2	6873	broad.mit.edu	37	8	120801062	120801062	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120801062C>A	uc003you.2	-	c.1651G>T	c.(1651-1653)GAC>TAC	p.D551Y		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	551					G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|promoter binding|protein binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)	5	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)											0.119816	31.387542	62.174903	26	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120801062	120801062	16045	8	C	A	A	A	390	30	TAF2	2	2
KIAA0196	9897	broad.mit.edu	37	8	126096091	126096091	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:126096091C>G	uc003yrt.2	-	c.50G>C	c.(49-51)AGG>ACG	p.R17T	KIAA0196_uc011lir.1_Intron	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	17					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)											0.486486	56.645691	56.651661	18	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126096091	126096091	8468	8	C	G	G	G	312	24	KIAA0196	3	3
DLC1	10395	broad.mit.edu	37	8	12957380	12957380	+	Silent	SNP	G	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:12957380G>T	uc003wwm.2	-	c.2466C>A	c.(2464-2466)CTC>CTA	p.L822L	DLC1_uc003wwk.1_Silent_p.L385L|DLC1_uc003wwl.1_Silent_p.L419L|DLC1_uc011kxx.1_Silent_p.L311L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	822					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				0.045455	-21.981263	12.005427	7	147	KEEP	---	---	---	---	capture		Silent	SNP	12957380	12957380	4730	8	G	T	T	T	574	45	DLC1	2	2
MTUS1	57509	broad.mit.edu	37	8	17601265	17601265	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17601265G>C	uc003wxv.2	-	c.2135C>G	c.(2134-2136)TCC>TGC	p.S712C	MTUS1_uc010lsy.2_Non-coding_Transcript|MTUS1_uc003wxw.2_Missense_Mutation_p.S712C|MTUS1_uc010lsz.2_Missense_Mutation_p.S712C	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	712						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)										0.224	81.467342	90.194893	28	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17601265	17601265	10358	8	G	C	C	C	533	41	MTUS1	3	3
TNFRSF10D	8793	broad.mit.edu	37	8	23003366	23003366	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:23003366G>A	uc003xcz.1	-	c.551C>T	c.(550-552)TCA>TTA	p.S184L		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily,	184	Extracellular (Potential).				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)										0.258427	56.292814	60.993387	23	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23003366	23003366	16824	8	G	A	A	A	585	45	TNFRSF10D	2	2
TMEM66	51669	broad.mit.edu	37	8	29924396	29924396	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:29924396C>A	uc003xhs.2	-	c.739G>T	c.(739-741)GGC>TGC	p.G247C	TMEM66_uc003xht.2_Missense_Mutation_p.G247C|TMEM66_uc003xhu.2_Missense_Mutation_p.G211C|TMEM66_uc003xhv.2_Missense_Mutation_p.G75C	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	transmembrane protein 66 precursor	247						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)										0.132353	58.054297	93.725557	36	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29924396	29924396	16734	8	C	A	A	A	273	21	TMEM66	2	2
BRF2	55290	broad.mit.edu	37	8	37707163	37707163	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37707163C>A	uc003xkk.2	-	c.139G>T	c.(139-141)GAG>TAG	p.E47*		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	47					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|transcription regulator activity|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)							145				0.166667	17.888794	23.54019	9	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37707163	37707163	1542	8	C	A	A	A	403	31	BRF2	5	1
OPRK1	4986	broad.mit.edu	37	8	54147395	54147395	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:54147395G>A	uc003xrh.1	-	c.534C>T	c.(532-534)ATC>ATT	p.I178I	OPRK1_uc003xri.1_Silent_p.I178I|OPRK1_uc010lyc.1_Silent_p.I89I	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	178	Helical; Name=4; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)	1		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)									0.176471	49.522498	62.934584	24	112	KEEP	---	---	---	---	capture		Silent	SNP	54147395	54147395	11291	8	G	A	A	A	577	45	OPRK1	2	2
CYP7A1	1581	broad.mit.edu	37	8	59404174	59404174	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59404174T>A	uc003xtm.3	-	c.1375A>T	c.(1375-1377)ATT>TTT	p.I459F		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	459					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|oxidation-reduction process|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)												0.126761	12.435818	22.080836	9	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59404174	59404174	4361	8	T	A	A	A	650	50	CYP7A1	3	3
PREX2	80243	broad.mit.edu	37	8	68934323	68934323	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68934323A>G	uc003xxv.1	+	c.389A>G	c.(388-390)CAA>CGA	p.Q130R	PREX2_uc003xxu.1_Missense_Mutation_p.Q130R|PREX2_uc011lez.1_Missense_Mutation_p.Q65R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	130	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13										1011				0.227586	78.305611	88.210892	33	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68934323	68934323	12920	8	A	G	G	G	65	5	PREX2	4	4
CRISPLD1	83690	broad.mit.edu	37	8	75932259	75932259	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:75932259G>C	uc003yan.2	+	c.1189G>C	c.(1189-1191)GAA>CAA	p.E397Q	CRISPLD1_uc011lfk.1_Missense_Mutation_p.E209Q|CRISPLD1_uc011lfl.1_Missense_Mutation_p.E209Q	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	397	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)											0.23494	106.545792	117.212966	39	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75932259	75932259	4021	8	G	C	C	C	585	45	CRISPLD1	3	3
ZFHX4	79776	broad.mit.edu	37	8	77766554	77766554	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77766554C>G	uc003yav.2	+	c.7262C>G	c.(7261-7263)TCT>TGT	p.S2421C	ZFHX4_uc003yau.1_Missense_Mutation_p.S2466C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2421C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2421	Pro-rich.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.117647	14.0495	23.821436	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77766554	77766554	18223	8	C	G	G	G	416	32	ZFHX4	3	3
ZFHX4	79776	broad.mit.edu	37	8	77767526	77767526	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77767526A>T	uc003yav.2	+	c.8234A>T	c.(8233-8235)GAG>GTG	p.E2745V	ZFHX4_uc003yau.1_Missense_Mutation_p.E2790V|ZFHX4_uc003yaw.1_Missense_Mutation_p.E2745V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2745					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.116883	8.713317	19.851801	9	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77767526	77767526	18223	8	A	T	T	T	143	11	ZFHX4	3	3
COL15A1	1306	broad.mit.edu	37	9	101749626	101749626	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101749626G>C	uc004azb.1	+	c.699G>C	c.(697-699)GAG>GAC	p.E233D		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	233	Nonhelical region 1 (NC1).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.478873	815.677443	815.86581	238	259	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101749626	101749626	3810	9	G	C	C	C	438	34	COL15A1	3	3
C9orf125	84302	broad.mit.edu	37	9	104238916	104238916	+	Silent	SNP	A	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104238916A>G	uc004bbm.2	-	c.459T>C	c.(457-459)TTT>TTC	p.F153F		NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	hypothetical protein LOC84302	153						integral to membrane					0		Acute lymphoblastic leukemia(62;0.0527)												0.440476	245.530443	246.048521	74	94	KEEP	---	---	---	---	capture		Silent	SNP	104238916	104238916	2567	9	A	G	G	G	63	5	C9orf125	4	4
SLC46A2	57864	broad.mit.edu	37	9	115652023	115652023	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115652023G>A	uc004bgk.2	-	c.939C>T	c.(937-939)CTC>CTT	p.L313L		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	313	Extracellular (Potential).				response to antibiotic	integral to membrane|plasma membrane	symporter activity|tetracycline:hydrogen antiporter activity			central_nervous_system(1)	1														0.322581	25.839539	26.705838	10	21	KEEP	---	---	---	---	capture		Silent	SNP	115652023	115652023	15142	9	G	A	A	A	470	37	SLC46A2	1	1
TNC	3371	broad.mit.edu	37	9	117791725	117791725	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117791725C>T	uc004bjj.3	-	c.6083G>A	c.(6082-6084)AGA>AAA	p.R2028K	TNC_uc010mvf.2_Missense_Mutation_p.R1755K	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	2028	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.148837	63.067921	88.497411	32	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117791725	117791725	16811	9	C	T	T	T	416	32	TNC	2	2
TNC	3371	broad.mit.edu	37	9	117840266	117840266	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117840266C>A	uc004bjj.3	-	c.2630G>T	c.(2629-2631)AGA>ATA	p.R877I	TNC_uc010mvf.2_Missense_Mutation_p.R877I	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	877	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.248677	110.701211	121.589569	47	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117840266	117840266	16811	9	C	A	A	A	416	32	TNC	2	2
DPM2	8818	broad.mit.edu	37	9	130699749	130699749	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130699749G>A	uc004bsv.2	-	c.57C>T	c.(55-57)ATC>ATT	p.I19I		NM_003863	NP_003854	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase 2	19	Helical; (Potential).				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane	protein binding				0														0.340909	42.710748	43.695361	15	29	KEEP	---	---	---	---	capture		Silent	SNP	130699749	130699749	4909	9	G	A	A	A	577	45	DPM2	2	2
DDX31	64794	broad.mit.edu	37	9	135521367	135521367	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135521367C>A	uc004cbq.1	-	c.1610G>T	c.(1609-1611)AGC>ATC	p.S537I	DDX31_uc010mzu.1_Missense_Mutation_p.S537I|DDX31_uc004cbr.1_Missense_Mutation_p.S537I	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	537	Helicase C-terminal.					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)										0.53125	52.976104	53.003263	17	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135521367	135521367	4527	9	C	A	A	A	364	28	DDX31	2	2
CDKN2A	1029	broad.mit.edu	37	9	21971145	21971145	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21971145G>C	uc003zpl.2	-	c.379C>G	c.(379-381)CTG>GTG	p.L127V	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc003zpk.2_Missense_Mutation_p.N71K|CDKN2A_uc010miu.2_Non-coding_Transcript	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	62	ANK 2.		L -> P (in CMM2).|EL -> DV.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(425)|p.N71K(2)|p.N71fs*50(1)|p.L65fs*38(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.N71N(1)		haematopoietic_and_lymphoid_tissue(647)|skin(417)|upper_aerodigestive_tract(405)|central_nervous_system(380)|lung(319)|pancreas(237)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|ovary(76)|soft_tissue(73)|biliary_tract(71)|bone(70)|breast(46)|stomach(44)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|large_intestine(9)|salivary_gland(8)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3636		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)				17		76	TSP Lung(5;3.83e-07)			0.52381	39.526207	39.536553	11	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21971145	21971145	3290	9	G	C	C	C	464	36	CDKN2A	3	3
GLIS3	169792	broad.mit.edu	37	9	3829339	3829339	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:3829339C>T	uc003zhx.1	-	c.2627G>A	c.(2626-2628)AGA>AAA	p.R876K	GLIS3_uc010mhf.1_Missense_Mutation_p.R270K|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.R721K	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform a	721					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter		DNA binding|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)										0.212121	51.120841	58.704697	21	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3829339	3829339	6715	9	C	T	T	T	416	32	GLIS3	2	2
INSL4	3641	broad.mit.edu	37	9	5233852	5233852	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5233852G>A	uc003ziy.2	+	c.395G>A	c.(394-396)GGA>GAA	p.G132E		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	132					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)										0.041667	-25.02622	12.925888	7	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5233852	5233852	8069	9	G	A	A	A	533	41	INSL4	2	2
KIAA1432	57589	broad.mit.edu	37	9	5772996	5772996	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5772996C>A	uc003zji.2	+	c.3662C>A	c.(3661-3663)ACA>AAA	p.T1221K	KIAA1432_uc003zjl.3_Missense_Mutation_p.T1184K|ERMP1_uc011lme.1_Intron	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	1300						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)										0.091549	7.863081	31.731803	13	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5772996	5772996	8542	9	C	A	A	A	221	17	KIAA1432	2	2
PTPRD	5789	broad.mit.edu	37	9	8341934	8341934	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8341934A>T	uc003zkk.2	-	c.4706T>A	c.(4705-4707)ATG>AAG	p.M1569K	PTPRD_uc003zkp.2_Missense_Mutation_p.M1163K|PTPRD_uc003zkq.2_Missense_Mutation_p.M1162K|PTPRD_uc003zkr.2_Missense_Mutation_p.M1153K|PTPRD_uc003zks.2_Missense_Mutation_p.M1162K|PTPRD_uc003zkl.2_Missense_Mutation_p.M1560K|PTPRD_uc003zkm.2_Missense_Mutation_p.M1556K|PTPRD_uc003zkn.2_Missense_Mutation_p.M1158K|PTPRD_uc003zko.2_Missense_Mutation_p.M1159K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1569	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				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)			0.072917	-7.61485	28.522014	14	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8341934	8341934	13256	9	A	T	T	T	104	8	PTPRD	3	3
SLC28A3	64078	broad.mit.edu	37	9	86894927	86894927	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86894927C>G	uc010mpz.2	-	c.1791G>C	c.(1789-1791)GCG>GCC	p.A597A	SLC28A3_uc011lsy.1_Silent_p.A528A|SLC28A3_uc004anu.1_Silent_p.A597A	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	597	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			ovary(1)|pancreas(1)	2						Ovarian(106;425 1539 34835 42413 43572)								0.209302	18.954751	22.316606	9	34	KEEP	---	---	---	---	capture		Silent	SNP	86894927	86894927	15030	9	C	G	G	G	288	23	SLC28A3	3	3
TEX13A	56157	broad.mit.edu	37	X	104464212	104464212	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:104464212C>G	uc004ema.2	-	c.664G>C	c.(664-666)GAG>CAG	p.E222Q	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.W222C	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	222						intracellular	zinc ion binding			ovary(2)	2														0.162162	11.226647	15.245	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104464212	104464212	16303	23	C	G	G	G	390	30	TEX13A	3	3
CXorf41	139212	broad.mit.edu	37	X	106459969	106459969	+	Silent	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106459969C>G	uc004enc.2	+	c.222C>G	c.(220-222)CTC>CTG	p.L74L	CXorf41_uc004end.2_Silent_p.L74L	NM_173494	NP_775765	Q9NQM4	CX041_HUMAN	hypothetical protein LOC139212	74											0														0.277778	31.63445	33.233857	10	26	KEEP	---	---	---	---	capture		Silent	SNP	106459969	106459969	4271	23	C	G	G	G	366	29	CXorf41	3	3
ENOX2	10495	broad.mit.edu	37	X	129801717	129801717	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129801717C>T	uc004evw.2	-	c.782_splice	c.e9-1	p.D261_splice	ENOX2_uc004evx.2_Splice_Site_SNP_p.D232_splice|ENOX2_uc004evy.2_Splice_Site_SNP_p.D232_splice|ENOX2_uc004evv.2_Splice_Site_SNP_p.D88_splice	NM_182314	NP_872114			ecto-NOX disulfide-thiol exchanger 2 isoform b						cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						Ovarian(101;828 1506 2951 9500 35258)								0.605769	216.139871	217.156417	63	41	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	129801717	129801717	5320	23	C	T	T	T	416	32	ENOX2	5	2
RAP2C	57826	broad.mit.edu	37	X	131351092	131351092	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:131351092C>G	uc004ewp.2	-	c.205G>C	c.(205-207)GAT>CAT	p.D69H	RAP2C_uc004ewo.2_Missense_Mutation_p.D3H|RAP2C_uc010nrk.2_Non-coding_Transcript|RAP2C_uc004ewq.3_Missense_Mutation_p.D69H	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor	69					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.271845	84.548609	89.387259	28	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131351092	131351092	13502	23	C	G	G	G	416	32	RAP2C	3	3
GEMIN8	54960	broad.mit.edu	37	X	14038431	14038431	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14038431G>A	uc004cwb.2	-	c.238C>T	c.(238-240)CAT>TAT	p.H80Y	GEMIN8_uc004cwc.2_Missense_Mutation_p.H80Y|GEMIN8_uc004cwd.2_Missense_Mutation_p.H80Y	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	80					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0														0.268041	67.902639	72.617188	26	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14038431	14038431	6602	23	G	A	A	A	585	45	GEMIN8	2	2
SPANXN2	494119	broad.mit.edu	37	X	142795247	142795247	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142795247G>C	uc004fbz.2	-	c.431C>G	c.(430-432)TCT>TGT	p.S144C		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	144										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.157068	197.379478	261.690127	90	483	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142795247	142795247	15499	23	G	C	C	C	429	33	SPANXN2	3	3
PCYT1B	9468	broad.mit.edu	37	X	24665111	24665111	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24665111G>A	uc004dbi.2	-	c.112C>T	c.(112-114)CGA>TGA	p.R38*	PCYT1B_uc004dbk.3_Nonsense_Mutation_p.R38*|PCYT1B_uc004dbj.2_Intron	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	38						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)									0.402439	105.266435	105.946487	33	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24665111	24665111	12032	23	G	A	A	A	480	37	PCYT1B	5	1
USP9X	8239	broad.mit.edu	37	X	41075707	41075707	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41075707G>C	uc004dfb.2	+	c.5887G>C	c.(5887-5889)GAT>CAT	p.D1963H	USP9X_uc004dfc.2_Missense_Mutation_p.D1963H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1963					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.451327	179.911191	180.144402	51	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41075707	41075707	17654	23	G	C	C	C	585	45	USP9X	3	3
HUWE1	10075	broad.mit.edu	37	X	53578370	53578370	+	Silent	SNP	G	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53578370G>A	uc004dsp.2	-	c.8953C>T	c.(8953-8955)CTA>TTA	p.L2985L	HUWE1_uc004dsn.2_Silent_p.L1809L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2985					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.342857	34.686904	35.451617	12	23	KEEP	---	---	---	---	capture		Silent	SNP	53578370	53578370	7761	23	G	A	A	A	425	33	HUWE1	2	2
MAGEE2	139599	broad.mit.edu	37	X	75004229	75004229	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:75004229C>A	uc004ecj.1	-	c.658G>T	c.(658-660)GGG>TGG	p.G220W		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	220	MAGE 1.									ovary(1)	1														0.506024	137.5479	137.550473	42	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75004229	75004229	9569	23	C	A	A	A	273	21	MAGEE2	2	2
EEA1	8411	broad.mit.edu	37	12	93206841	93206841	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:93206841_93206841delG	uc001tck.2	-	c.1958_1958delC	c.(1957-1959)TCAfs	p.S653fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	653	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)	2														0.30			54	124		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	93206841	93206841	5108	12	G	-	-	-	585	45	EEA1	5	5
RBBP6	5930	broad.mit.edu	37	16	24580361	24580362	+	Frame_Shift_Del	DEL	CG	-	-			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24580361_24580362delCG	uc002dmh.2	+	c.2350_2351delCG	c.(2350-2352)CGTfs	p.R784fs	RBBP6_uc010vcb.1_Frame_Shift_Del_p.R651fs|RBBP6_uc002dmi.2_Frame_Shift_Del_p.R750fs|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Frame_Shift_Del_p.R617fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.36			26	46		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	24580361	24580362	13564	16	CG	-	-	-	247	19	RBBP6	5	5
C19orf26	255057	broad.mit.edu	37	19	1231033	1231034	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1231033_1231034insG	uc002lrm.2	-	c.1202_1203insC	c.(1201-1203)CCTfs	p.P401fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	437						integral to membrane					0		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)|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)|STAD - Stomach adenocarcinoma(1328;0.18)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	1231033	1231034	1979	19	-	G	G	G	184	15	C19orf26	5	5
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	-	-			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240255569_240255571delGGC	uc010pye.1	+	c.160_162delGGC	c.(160-162)GGCdel	p.G59del	FMN2_uc010pyd.1_In_Frame_Del_p.G59del	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.50			4	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	240255569	240255571	6192	1	GGC	-	-	-	559	43	FMN2	5	5
SI	6476	broad.mit.edu	37	3	164780228	164780228	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164780228_164780228delG	uc003fei.2	-	c.951_951delC	c.(949-951)ACCfs	p.T317fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	317	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.60			135	90		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	164780228	164780228	14792	3	G	-	-	-	496	39	SI	5	5
GRIPAP1	56850	broad.mit.edu	37	X	48854568	48854571	+	Frame_Shift_Del	DEL	GAGC	-	-			TCGA-17-Z057-01	TCGA-17-Z057-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48854568_48854571delGAGC	uc004dly.1	-	c.193_196delGCTC	c.(193-198)GCTCAGfs	p.A65fs	GRIPAP1_uc004dma.2_Frame_Shift_Del_p.A65fs	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	65_66	Potential.					early endosome				breast(2)|kidney(1)	3														0.57			105	78		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	48854568	48854571	7068	23	GAGC	-	-	-	585	45	GRIPAP1	5	5
