Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
CNNM1	26507	broad.mit.edu	37	10	101147648	101147648	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101147648G>T	uc010qpi.1	+	c.2475G>T	c.(2473-2475)ATG>ATT	p.M825I	CNNM1_uc001kpp.3_Missense_Mutation_p.M804I|CNNM1_uc009xwf.2_Missense_Mutation_p.M804I|CNNM1_uc009xwg.2_Missense_Mutation_p.M204I	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	804					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)										0.476923	91.613356	91.643701	31	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101147648	101147648	3750	10	G	T	T	T	611	47	CNNM1	2	2
LBX1	10660	broad.mit.edu	37	10	102987397	102987397	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102987397G>A	uc001ksx.2	-	c.476C>T	c.(475-477)GCG>GTG	p.A159V		NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	159	Homeobox.				muscle organ development		sequence-specific DNA binding|transcription regulator activity				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)										0.217228	125.849652	145.512882	58	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102987397	102987397	8976	10	G	A	A	A	494	38	LBX1	1	1
INA	9118	broad.mit.edu	37	10	105037801	105037801	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105037801A>G	uc001kws.2	+	c.833A>G	c.(832-834)AAG>AGG	p.K278R	INA_uc009xxj.2_Missense_Mutation_p.K278R	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	278	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)										0.225806	17.307832	19.449226	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105037801	105037801	8031	10	A	G	G	G	39	3	INA	4	4
ADD3	120	broad.mit.edu	37	10	111860432	111860432	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:111860432A>T	uc001kyt.3	+	c.21A>T	c.(19-21)CAA>CAT	p.Q7H	ADD3_uc001kys.3_Missense_Mutation_p.Q7H|ADD3_uc001kyu.2_Missense_Mutation_p.Q7H|ADD3_uc001kyv.2_Missense_Mutation_p.Q7H|ADD3_uc001kyw.2_Missense_Mutation_p.Q7H	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	7						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|large_intestine(1)	3		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)										0.275	55.925583	59.567081	22	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111860432	111860432	307	10	A	T	T	T	37	3	ADD3	3	3
C10orf96	374355	broad.mit.edu	37	10	118101667	118101667	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118101667G>T	uc001lck.2	+	c.402G>T	c.(400-402)AAG>AAT	p.K134N		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	134	Potential.									ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)										0.134831	16.733914	28.244436	12	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118101667	118101667	1664	10	G	T	T	T	425	33	C10orf96	2	2
PNLIPRP3	119548	broad.mit.edu	37	10	118187538	118187539	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118187538_118187539GG>AT	uc001lcl.3	+	c.14_15GG>AT	c.(13-15)TGG>TAT	p.W5Y		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	5					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)										0.083636	-0.032857	48.360166	23	252	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	118187538	118187539	12578	10	GG	AT	AT	AT	611	47	PNLIPRP3	2	2
TACC2	10579	broad.mit.edu	37	10	123970767	123970767	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123970767G>T	uc001lfv.2	+	c.6827G>T	c.(6826-6828)TGG>TTG	p.W2276L	TACC2_uc001lfw.2_Missense_Mutation_p.W422L|TACC2_uc009xzx.2_Missense_Mutation_p.W2231L|TACC2_uc010qtv.1_Missense_Mutation_p.W2280L|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.W354L|TACC2_uc001lga.2_Missense_Mutation_p.W354L|TACC2_uc009xzy.2_Missense_Mutation_p.W354L|TACC2_uc001lgb.2_Missense_Mutation_p.W311L|TACC2_uc010qtw.1_Missense_Mutation_p.W371L	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2276						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.242537	161.746296	177.943337	65	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123970767	123970767	16023	10	G	T	T	T	611	47	TACC2	2	2
MKI67	4288	broad.mit.edu	37	10	129910519	129910519	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129910519C>T	uc001lke.2	-	c.1847G>A	c.(1846-1848)AGA>AAA	p.R616K	MKI67_uc001lkf.2_Missense_Mutation_p.R256K|MKI67_uc009yav.1_Missense_Mutation_p.R191K|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	616					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.139535	59.714144	92.106803	36	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129910519	129910519	9988	10	C	T	T	T	416	32	MKI67	2	2
PTF1A	256297	broad.mit.edu	37	10	23482715	23482715	+	Silent	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23482715C>G	uc001irp.2	+	c.867C>G	c.(865-867)CTC>CTG	p.L289L		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	289					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)	1														0.138889	81.196708	117.493246	40	248	KEEP	---	---	---	---	capture		Silent	SNP	23482715	23482715	13194	10	C	G	G	G	366	29	PTF1A	3	3
PTF1A	256297	broad.mit.edu	37	10	23482796	23482796	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23482796C>T	uc001irp.2	+	c.948C>T	c.(946-948)AAC>AAT	p.N316N		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	316					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)	1														0.15942	30.237444	45.718233	22	116	KEEP	---	---	---	---	capture		Silent	SNP	23482796	23482796	13194	10	C	T	T	T	220	17	PTF1A	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37451777	37451777	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37451777G>T	uc001iza.1	+	c.1834_splice	c.e17+1	p.D612_splice		NM_052997	NP_443723			ankyrin repeat domain 30A						regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.48	118.898592	118.924495	36	39	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	37451777	37451777	663	10	G	T	T	T	572	44	ANKRD30A	5	2
ZNF33B	7582	broad.mit.edu	37	10	43089807	43089807	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43089807C>A	uc001jaf.1	-	c.591G>T	c.(589-591)AGG>AGT	p.R197S	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.R85S|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	197					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						Melanoma(137;1247 1767 16772 25727 43810)								0.375776	326.915888	331.268489	121	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43089807	43089807	18447	10	C	A	A	A	389	30	ZNF33B	2	2
OGDHL	55753	broad.mit.edu	37	10	50946008	50946008	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50946008C>T	uc009xog.2	-	c.2583G>A	c.(2581-2583)CTG>CTA	p.L861L	OGDHL_uc001jie.2_Silent_p.L834L|OGDHL_uc010qgt.1_Silent_p.L777L|OGDHL_uc010qgu.1_Silent_p.L625L	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	834					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.238342	93.120225	105.23542	46	147	KEEP	---	---	---	---	capture		Silent	SNP	50946008	50946008	11245	10	C	T	T	T	314	25	OGDHL	2	2
MYPN	84665	broad.mit.edu	37	10	69959219	69959219	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69959219G>C	uc001jnm.3	+	c.3380G>C	c.(3379-3381)GGA>GCA	p.G1127A	MYPN_uc001jnn.3_Missense_Mutation_p.G852A|MYPN_uc001jno.3_Missense_Mutation_p.G1127A|MYPN_uc009xpt.2_Missense_Mutation_p.G1127A|MYPN_uc010qit.1_Missense_Mutation_p.G833A|MYPN_uc010qiu.1_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	1127	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			ovary(3)	3														0.507772	339.529571	339.539643	98	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69959219	69959219	10493	10	G	C	C	C	533	41	MYPN	3	3
DNA2	1763	broad.mit.edu	37	10	70210005	70210005	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70210005C>A	uc001jof.2	-	c.978_splice	c.e6-1	p.L326_splice	DNA2_uc001jog.1_Splice_Site_SNP_p.L240_splice|DNA2_uc001joh.1_Splice_Site_SNP	NM_001080449	NP_001073918			DNA replication helicase 2 homolog						base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0														0.636364	21.827167	22.00696	7	4	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	70210005	70210005	4778	10	C	A	A	A	312	24	DNA2	5	2
POLR3A	11128	broad.mit.edu	37	10	79781775	79781775	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79781775C>A	uc001jzn.2	-	c.891G>T	c.(889-891)CGG>CGT	p.R297R		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	297					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)											0.260417	56.120664	61.119849	25	71	KEEP	---	---	---	---	capture		Silent	SNP	79781775	79781775	12656	10	C	A	A	A	379	30	POLR3A	2	2
TAF3	83860	broad.mit.edu	37	10	8006284	8006284	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8006284A>G	uc010qbd.1	+	c.811A>G	c.(811-813)AAA>GAA	p.K271E		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	271					maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1														0.382979	441.593406	445.536255	126	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8006284	8006284	16046	10	A	G	G	G	169	13	TAF3	4	4
CDHR1	92211	broad.mit.edu	37	10	85960424	85960424	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85960424G>T	uc001kcv.2	+	c.506G>T	c.(505-507)AGT>ATT	p.S169I	CDHR1_uc001kcw.2_Missense_Mutation_p.S169I|CDHR1_uc009xst.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	169	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1														0.125	5.391852	9.776579	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85960424	85960424	3247	10	G	T	T	T	468	36	CDHR1	2	2
CDHR1	92211	broad.mit.edu	37	10	85972130	85972130	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85972130G>T	uc001kcv.2	+	c.1749G>T	c.(1747-1749)AAG>AAT	p.K583N	CDHR1_uc001kcw.2_Missense_Mutation_p.K583N|CDHR1_uc009xst.2_Missense_Mutation_p.K287N|CDHR1_uc001kcx.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	583	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1														0.195062	157.578248	192.730752	79	326	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85972130	85972130	3247	10	G	T	T	T	425	33	CDHR1	2	2
LIPN	643418	broad.mit.edu	37	10	90528676	90528676	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90528676C>T	uc010qmw.1	+	c.663C>T	c.(661-663)TCC>TCT	p.S221S		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	lipase-like, ab-hydrolase domain containing 4	221					lipid catabolic process	extracellular region	hydrolase activity				0		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)										0.495413	167.141888	167.143948	54	55	KEEP	---	---	---	---	capture		Silent	SNP	90528676	90528676	9156	10	C	T	T	T	262	21	LIPN	2	2
CPEB3	22849	broad.mit.edu	37	10	93999766	93999766	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93999766G>T	uc001khu.1	-	c.342C>A	c.(340-342)GGC>GGA	p.G114G	CPEB3_uc001khv.1_Silent_p.G114G|CPEB3_uc001khw.1_Silent_p.G114G|CPEB3_uc010qnn.1_Silent_p.G114G	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	114	Pro-rich.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)												0.142857	5.074898	7.602923	3	18	KEEP	---	---	---	---	capture		Silent	SNP	93999766	93999766	3940	10	G	T	T	T	587	46	CPEB3	2	2
IDE	3416	broad.mit.edu	37	10	94297170	94297170	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94297170C>A	uc001kia.2	-	c.236G>T	c.(235-237)AGT>ATT	p.S79I		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	79					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.191781	88.111367	107.559304	42	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94297170	94297170	7793	10	C	A	A	A	260	20	IDE	2	2
MYOF	26509	broad.mit.edu	37	10	95132788	95132788	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95132788G>T	uc001kin.2	-	c.2356C>A	c.(2356-2358)CTG>ATG	p.L786M	MYOF_uc001kio.2_Missense_Mutation_p.L773M|MYOF_uc009xue.2_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	786	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														0.236702	218.206392	242.023862	89	287	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95132788	95132788	10484	10	G	T	T	T	464	36	MYOF	2	2
PDLIM1	9124	broad.mit.edu	37	10	96997737	96997737	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96997737C>A	uc001kkh.2	-	c.935G>T	c.(934-936)CGG>CTG	p.R312L	PDLIM1_uc001kki.2_3'UTR|PDLIM1_uc009xuv.2_3'UTR|PDLIM1_uc001kkj.1_3'UTR	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	312	LIM zinc-binding.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)										0.145631	23.412534	35.816315	15	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96997737	96997737	12100	10	C	A	A	A	299	23	PDLIM1	1	1
CC2D2B	387707	broad.mit.edu	37	10	97779499	97779499	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97779499T>C	uc010qop.1	+	c.698T>C	c.(697-699)GTA>GCA	p.V233A	CC2D2B_uc001klk.2_Intron|CC2D2B_uc001kll.2_Missense_Mutation_p.V233A	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	233										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)										0.193309	131.38982	155.032262	52	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97779499	97779499	2849	10	T	C	C	C	741	57	CC2D2B	4	4
AMPD3	272	broad.mit.edu	37	11	10517225	10517225	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:10517225C>T	uc001min.1	+	c.1402C>T	c.(1402-1404)CAG>TAG	p.Q468*	AMPD3_uc010rbz.1_Nonsense_Mutation_p.Q300*|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Nonsense_Mutation_p.Q459*|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Nonsense_Mutation_p.Q466*|AMPD3_uc009yfy.2_Nonsense_Mutation_p.Q459*	NM_000480	NP_000471	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1A	459					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)										0.486239	157.864444	157.882496	53	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10517225	10517225	590	11	C	T	T	T	273	21	AMPD3	5	2
TTC12	54970	broad.mit.edu	37	11	113236979	113236979	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113236979T>C	uc001pnv.2	+	c.2093T>C	c.(2092-2094)CTA>CCA	p.L698P	TTC12_uc001pnu.2_Missense_Mutation_p.L692P|TTC12_uc001pnw.2_Intron|TTC12_uc001pnx.2_Missense_Mutation_p.L542P	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	692							binding			pancreas(2)|central_nervous_system(1)	3		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)										0.199584	254.936154	295.454783	96	385	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113236979	113236979	17233	11	T	C	C	C	689	53	TTC12	4	4
DRD2	1813	broad.mit.edu	37	11	113286152	113286152	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113286152A>G	uc001pnz.2	-	c.714T>C	c.(712-714)GCT>GCC	p.A238A	DRD2_uc010rwv.1_Silent_p.A237A|DRD2_uc001poa.3_Silent_p.A238A|DRD2_uc001pob.3_Silent_p.A238A|DRD2_uc009yyr.1_Silent_p.A238A	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	238	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)					215				0.437358	579.439801	580.998524	192	247	KEEP	---	---	---	---	capture		Silent	SNP	113286152	113286152	4941	11	A	G	G	G	132	11	DRD2	4	4
ZNF259	8882	broad.mit.edu	37	11	116656339	116656339	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:116656339G>A	uc001ppp.2	-	c.596C>T	c.(595-597)CCC>CTC	p.P199L	ZNF259_uc009yzd.2_Missense_Mutation_p.P199L|ZNF259_uc001ppq.2_Missense_Mutation_p.P145L	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	199					cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)										0.173913	26.866452	33.783927	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116656339	116656339	18392	11	G	A	A	A	559	43	ZNF259	2	2
CEP164	22897	broad.mit.edu	37	11	117242094	117242094	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117242094G>T	uc001prc.2	+	c.1064G>T	c.(1063-1065)GGA>GTA	p.G355V	CEP164_uc001prb.2_Missense_Mutation_p.G355V|CEP164_uc010rxk.1_Missense_Mutation_p.G329V|CEP164_uc001prf.2_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	355					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)										0.423529	383.969508	385.71698	144	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117242094	117242094	3382	11	G	T	T	T	533	41	CEP164	2	2
OR6T1	219874	broad.mit.edu	37	11	123814197	123814197	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123814197C>G	uc010sab.1	-	c.349G>C	c.(349-351)GTC>CTC	p.V117L		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	117	Helical; Name=3; (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)										0.5	79.885729	79.885729	22	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123814197	123814197	11621	11	C	G	G	G	247	19	OR6T1	3	3
HEPACAM	220296	broad.mit.edu	37	11	124794879	124794879	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124794879T>A	uc001qbk.2	-	c.172A>T	c.(172-174)AGC>TGC	p.S58C	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.S58C	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	58	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)										0.417391	146.541162	147.234002	48	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124794879	124794879	7335	11	T	A	A	A	715	55	HEPACAM	3	3
MUC5B	727897	broad.mit.edu	37	11	1251244	1251244	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1251244C>A	uc009ycr.1	+	c.3207C>A	c.(3205-3207)TCC>TCA	p.S1069S	MUC5B_uc009yct.1_Silent_p.S410S|MUC5B_uc001ltb.2_Silent_p.S413S|MUC5B_uc001lta.2_Silent_p.S78S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	410					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.263158	12.565537	13.530036	5	14	KEEP	---	---	---	---	capture		Silent	SNP	1251244	1251244	10373	11	C	A	A	A	288	23	MUC5B	1	1
MRGPRX1	259249	broad.mit.edu	37	11	18956007	18956007	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18956007C>A	uc001mpg.2	-	c.325G>T	c.(325-327)GGC>TGC	p.G109C		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	109	Helical; Name=3; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3														0.22191	175.064229	200.389533	79	277	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18956007	18956007	10159	11	C	A	A	A	312	24	MRGPRX1	2	2
SLC6A5	9152	broad.mit.edu	37	11	20658776	20658776	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20658776G>T	uc001mqd.2	+	c.1796G>T	c.(1795-1797)CGC>CTC	p.R599L	SLC6A5_uc009yic.2_Missense_Mutation_p.R364L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	599					synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.444444	157.155465	157.453303	52	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20658776	20658776	15184	11	G	T	T	T	494	38	SLC6A5	1	1
MUC15	143662	broad.mit.edu	37	11	26587269	26587269	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26587269G>T	uc001mqw.2	-	c.218C>A	c.(217-219)CCT>CAT	p.P73H	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqx.2_Missense_Mutation_p.P46H|MUC15_uc001mqy.2_Missense_Mutation_p.P73H	NM_001135091	NP_001128563	Q8N387	MUC15_HUMAN	mucin 15 isoform a	46	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.118812	14.347701	28.743364	12	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26587269	26587269	10366	11	G	T	T	T	455	35	MUC15	2	2
FIBIN	387758	broad.mit.edu	37	11	27016640	27016640	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27016640G>T	uc001mrd.2	+	c.567G>T	c.(565-567)CTG>CTT	p.L189L		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	189						extracellular region|Golgi apparatus					0														0.205674	62.742591	74.037782	29	112	KEEP	---	---	---	---	capture		Silent	SNP	27016640	27016640	6123	11	G	T	T	T	587	46	FIBIN	2	2
ELP4	26610	broad.mit.edu	37	11	31669355	31669355	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31669355G>T	uc001mtb.2	+	c.994G>T	c.(994-996)GGT>TGT	p.G332C	ELP4_uc001mta.1_Non-coding_Transcript|ELP4_uc001mtc.2_Missense_Mutation_p.G332C|ELP4_uc010rdz.1_Missense_Mutation_p.G333C	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	332					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			ovary(1)	1	Lung SC(675;0.225)													0.240964	97.553224	107.6935	40	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31669355	31669355	5274	11	G	T	T	T	611	47	ELP4	2	2
CCDC73	493860	broad.mit.edu	37	11	32636280	32636280	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32636280A>T	uc001mtv.2	-	c.1584T>A	c.(1582-1584)TGT>TGA	p.C528*		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	528										ovary(1)	1	Breast(20;0.112)													0.487805	121.193647	121.204285	40	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32636280	32636280	2969	11	A	T	T	T	180	14	CCDC73	5	3
C11orf41	25758	broad.mit.edu	37	11	33566468	33566468	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33566468T>A	uc001mup.3	+	c.2056T>A	c.(2056-2058)TCG>ACG	p.S686T	C11orf41_uc001mun.1_Missense_Mutation_p.S686T	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	680						integral to membrane				ovary(2)	2														0.195652	18.147965	22.121065	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33566468	33566468	1679	11	T	A	A	A	806	62	C11orf41	3	3
C11orf41	25758	broad.mit.edu	37	11	33566572	33566572	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33566572G>T	uc001mup.3	+	c.2160G>T	c.(2158-2160)ATG>ATT	p.M720I	C11orf41_uc001mun.1_Missense_Mutation_p.M720I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	714						integral to membrane				ovary(2)	2														0.206522	82.470485	97.146806	38	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33566572	33566572	1679	11	G	T	T	T	624	48	C11orf41	2	2
LMO2	4005	broad.mit.edu	37	11	33886287	33886287	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33886287G>T	uc010rem.1	-	c.325C>A	c.(325-327)CGC>AGC	p.R109S	LMO2_uc001mvc.2_Missense_Mutation_p.R33S|LMO2_uc001mvd.2_Missense_Mutation_p.R33S|LMO2_uc001mve.2_Missense_Mutation_p.R40S|LMO2_uc010rel.1_Missense_Mutation_p.R40S	NM_005574	NP_005565	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 1	40	LIM zinc-binding 1.				multicellular organismal development	nucleus	protein binding|zinc ion binding				0										60				0.177778	35.175554	43.951291	16	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33886287	33886287	9181	11	G	T	T	T	507	39	LMO2	1	1
ALX4	60529	broad.mit.edu	37	11	44286499	44286499	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44286499C>T	uc001myb.2	-	c.1141G>A	c.(1141-1143)GAG>AAG	p.E381K		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	381					hair follicle development		transcription regulator activity				0														0.268293	26.010151	27.995604	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44286499	44286499	561	11	C	T	T	T	403	31	ALX4	1	1
OR4B1	119765	broad.mit.edu	37	11	48239130	48239130	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48239130A>T	uc010rhs.1	+	c.769A>T	c.(769-771)ATG>TTG	p.M257L		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	257	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2														0.384365	376.487224	380.082922	118	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48239130	48239130	11450	11	A	T	T	T	104	8	OR4B1	3	3
FOLH1	2346	broad.mit.edu	37	11	49197410	49197410	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49197410C>G	uc001ngy.2	-	c.1019_splice	c.e8+1	p.Q340_splice	FOLH1_uc001ngz.2_Splice_Site_SNP_p.Q340_splice|FOLH1_uc009yly.2_Splice_Site_SNP_p.Q325_splice|FOLH1_uc009ylz.2_Splice_Site_SNP_p.Q325_splice|FOLH1_uc009yma.2_Splice_Site_SNP_p.Q32_splice	NM_004476	NP_004467			folate hydrolase 1 isoform 1						proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)	1					Capromab(DB00089)|L-Glutamic Acid(DB00142)									0.254545	87.85143	93.861654	28	82	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	49197410	49197410	6221	11	C	G	G	G	260	20	FOLH1	5	3
OR51A7	119687	broad.mit.edu	37	11	4929316	4929316	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4929316C>T	uc010qyq.1	+	c.717C>T	c.(715-717)ACC>ACT	p.T239T		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.249389	269.876167	293.310616	102	307	KEEP	---	---	---	---	capture		Silent	SNP	4929316	4929316	11498	11	C	T	T	T	301	24	OR51A7	2	2
OR52E2	119678	broad.mit.edu	37	11	5080628	5080628	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5080628G>T	uc010qyw.1	-	c.230C>A	c.(229-231)ACA>AAA	p.T77K		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)										0.141304	22.313235	33.7317	13	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5080628	5080628	11525	11	G	T	T	T	624	48	OR52E2	2	2
OR52E2	119678	broad.mit.edu	37	11	5080731	5080731	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5080731C>T	uc010qyw.1	-	c.127G>A	c.(127-129)GGG>AGG	p.G43R		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)										0.189189	62.517484	75.890706	28	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5080731	5080731	11525	11	C	T	T	T	312	24	OR52E2	2	2
OR51B2	79345	broad.mit.edu	37	11	5345286	5345286	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5345286C>A	uc001mao.1	-	c.242G>T	c.(241-243)GGC>GTC	p.G81V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	81	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.491892	273.412867	273.423422	91	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5345286	5345286	11499	11	C	A	A	A	338	26	OR51B2	2	2
OR5D13	390142	broad.mit.edu	37	11	55541757	55541757	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55541757G>C	uc010ril.1	+	c.844G>C	c.(844-846)GTG>CTG	p.V282L		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.252525	77.541295	83.037558	25	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55541757	55541757	11564	11	G	C	C	C	468	36	OR5D13	3	3
OR5D14	219436	broad.mit.edu	37	11	55563767	55563767	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563767C>A	uc010rim.1	+	c.736C>A	c.(736-738)CAC>AAC	p.H246N		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	246	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)												0.45045	150.254456	150.488283	50	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55563767	55563767	11565	11	C	A	A	A	273	21	OR5D14	2	2
OR8H2	390151	broad.mit.edu	37	11	55873446	55873446	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55873446G>T	uc010riy.1	+	c.928G>T	c.(928-930)GAC>TAC	p.D310Y		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.171548	72.419317	96.806256	41	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55873446	55873446	11649	11	G	T	T	T	533	41	OR8H2	2	2
OR5J2	282775	broad.mit.edu	37	11	55944951	55944951	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55944951C>T	uc010rjb.1	+	c.858C>T	c.(856-858)AAC>AAT	p.N286N		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)													0.194444	42.615898	52.024932	21	87	KEEP	---	---	---	---	capture		Silent	SNP	55944951	55944951	11575	11	C	T	T	T	233	18	OR5J2	2	2
P2RX3	5024	broad.mit.edu	37	11	57114061	57114061	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57114061G>A	uc001nju.2	+	c.163G>A	c.(163-165)GCC>ACC	p.A55T		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	55	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0														0.046296	-13.520381	10.200236	5	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57114061	57114061	11754	11	G	A	A	A	442	34	P2RX3	2	2
TRIM22	10346	broad.mit.edu	37	11	5730293	5730293	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5730293G>A	uc001mbr.2	+	c.912G>A	c.(910-912)ATG>ATA	p.M304I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.M300I|TRIM22_uc010qzm.1_Missense_Mutation_p.M132I|TRIM22_uc009yeu.2_Missense_Mutation_p.M115I|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	304	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|regulation of transcription, DNA-dependent|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GBM(104;491 2336 5222)								0.416404	354.06183	356.012489	132	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5730293	5730293	17040	11	G	A	A	A	598	46	TRIM22	2	2
DNHD1	144132	broad.mit.edu	37	11	6588722	6588722	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6588722C>A	uc001mdw.3	+	c.11983C>A	c.(11983-11985)CTG>ATG	p.L3995M	DNHD1_uc001mea.3_Missense_Mutation_p.L264M|DNHD1_uc001meb.2_Missense_Mutation_p.L263M|DNHD1_uc001mec.2_Missense_Mutation_p.L263M|DNHD1_uc010rao.1_Missense_Mutation_p.L253M|DNHD1_uc009yfg.2_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	3995					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)										0.5	45.401404	45.401404	16	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6588722	6588722	4851	11	C	A	A	A	363	28	DNHD1	2	2
TAF10	6881	broad.mit.edu	37	11	6633011	6633011	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6633011C>A	uc001mej.1	-	c.271G>T	c.(271-273)GCC>TCC	p.A91S		NM_006284	NP_006275	Q12962	TAF10_HUMAN	TBP-related factor 10	91					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|general RNA polymerase II transcription factor activity|RNA polymerase binding|transcription coactivator activity|transcription initiation factor activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.25	5.874959	7.015922	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6633011	6633011	16035	11	C	A	A	A	338	26	TAF10	2	2
OR2AG1	144125	broad.mit.edu	37	11	6807165	6807165	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6807165G>T	uc001mer.1	+	c.897G>T	c.(895-897)CGG>CGT	p.R299R		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.220339	89.874399	102.590523	39	138	KEEP	---	---	---	---	capture		Silent	SNP	6807165	6807165	11390	11	G	T	T	T	548	43	OR2AG1	2	2
OR2D3	120775	broad.mit.edu	37	11	6942890	6942890	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6942890G>T	uc010rav.1	+	c.658G>T	c.(658-660)GTG>TTG	p.V220L		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	220	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.205882	69.930489	80.760405	28	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6942890	6942890	11401	11	G	T	T	T	520	40	OR2D3	1	1
OR10A3	26496	broad.mit.edu	37	11	7960420	7960420	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7960420C>A	uc010rbi.1	-	c.648G>T	c.(646-648)TTG>TTT	p.L216F		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.461832	384.449306	384.78167	121	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7960420	7960420	11297	11	C	A	A	A	220	17	OR10A3	2	2
FAT3	120114	broad.mit.edu	37	11	92085726	92085726	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92085726G>C	uc001pdj.3	+	c.448G>C	c.(448-450)GAT>CAT	p.D150H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	150	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.559524	173.335393	173.594343	47	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92085726	92085726	5927	11	G	C	C	C	429	33	FAT3	3	3
UTP20	27340	broad.mit.edu	37	12	101761753	101761753	+	Missense_Mutation	SNP	A	G	G	rs117476305	by1000genomes	TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101761753A>G	uc001tia.1	+	c.6383A>G	c.(6382-6384)AAG>AGG	p.K2128R		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2128					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.031008	-44.028491	18.136149	8	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101761753	101761753	17664	12	A	G	G	G	39	3	UTP20	4	4
IGF1	3479	broad.mit.edu	37	12	102813362	102813362	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:102813362G>T	uc001tjp.3	-	c.327C>A	c.(325-327)TGC>TGA	p.C109*	IGF1_uc001tjn.2_Nonsense_Mutation_p.C93*|IGF1_uc001tjm.2_Nonsense_Mutation_p.C109*|IGF1_uc001tjo.2_Nonsense_Mutation_p.C109*	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	109	A.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|muscle organ development|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	insulin-like growth factor binding protein complex|platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)	1														0.671642	141.790431	143.540317	45	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102813362	102813362	7871	12	G	T	T	T	490	38	IGF1	5	1
WSCD2	9671	broad.mit.edu	37	12	108620934	108620934	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108620934A>C	uc001tms.2	+	c.972A>C	c.(970-972)CAA>CAC	p.Q324H	WSCD2_uc001tmt.2_Missense_Mutation_p.Q324H|WSCD2_uc001tmu.2_Missense_Mutation_p.Q72H	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	324	WSC 2.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3														0.226667	38.133103	43.280781	17	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108620934	108620934	17981	12	A	C	C	C	37	3	WSCD2	4	4
PTPN11	5781	broad.mit.edu	37	12	112926888	112926888	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112926888G>T	uc001ttx.2	+	c.1508G>T	c.(1507-1509)GGG>GTG	p.G503V		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	507	Tyrosine-protein phosphatase.		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.G503A(14)|p.G503V(8)|p.G503E(2)|p.G503L(1)		haematopoietic_and_lymphoid_tissue(372)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|ovary(1)|NS(1)|kidney(1)	388										372				0.570213	1218.534596	1221.554409	402	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112926888	112926888	13235	12	G	T	T	T	559	43	PTPN11	2	2
FBXO21	23014	broad.mit.edu	37	12	117603329	117603329	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117603329T>A	uc001twk.2	-	c.1287A>T	c.(1285-1287)CAA>CAT	p.Q429H	FBXO21_uc001twj.2_Missense_Mutation_p.Q429H|FBXO21_uc009zwq.2_Missense_Mutation_p.Q369H|FBXO21_uc001twl.1_Missense_Mutation_p.Q42H	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	429					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GBM(168;452 2038 13535 17701 43680)								0.611321	507.460099	510.330152	162	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117603329	117603329	5970	12	T	A	A	A	725	56	FBXO21	3	3
FZD10	11211	broad.mit.edu	37	12	130648337	130648337	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130648337G>A	uc001uii.2	+	c.850G>A	c.(850-852)GGC>AGC	p.G284S		NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	284	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)										0.114286	3.680415	8.812259	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130648337	130648337	6380	12	G	A	A	A	507	39	FZD10	1	1
P2RX2	22953	broad.mit.edu	37	12	133197069	133197069	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133197069G>A	uc001ukk.1	+	c.674G>A	c.(673-675)CGC>CAC	p.R225H	P2RX2_uc001uki.1_Missense_Mutation_p.R225H|P2RX2_uc001ukj.1_Missense_Mutation_p.R225H|P2RX2_uc001ukl.1_Missense_Mutation_p.R201H|P2RX2_uc001ukm.1_Missense_Mutation_p.R153H|P2RX2_uc001ukn.1_Missense_Mutation_p.R133H|P2RX2_uc009zyt.1_Missense_Mutation_p.R225H|P2RX2_uc001uko.1_Silent_p.A189A	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform D	225	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)										0.3625	79.650816	80.982507	29	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133197069	133197069	11753	12	G	A	A	A	494	38	P2RX2	1	1
GRIN2B	2904	broad.mit.edu	37	12	13716876	13716876	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13716876C>A	uc001rbt.2	-	c.3296G>T	c.(3295-3297)CGC>CTC	p.R1099L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1099	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.428571	166.084153	166.631329	54	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13716876	13716876	7059	12	C	A	A	A	351	27	GRIN2B	1	1
GRIN2B	2904	broad.mit.edu	37	12	13720017	13720017	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13720017C>A	uc001rbt.2	-	c.2540G>T	c.(2539-2541)CGA>CTA	p.R847L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	847	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.355422	158.19843	161.246393	59	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13720017	13720017	7059	12	C	A	A	A	403	31	GRIN2B	1	1
PDE3A	5139	broad.mit.edu	37	12	20523017	20523017	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20523017C>T	uc001reh.1	+	c.799C>T	c.(799-801)CCA>TCA	p.P267S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	267					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)	3	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)									0.051471	-16.377172	12.611999	7	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20523017	20523017	12058	12	C	T	T	T	390	30	PDE3A	2	2
IQSEC3	440073	broad.mit.edu	37	12	271198	271198	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:271198C>A	uc001qhw.1	+	c.1641C>A	c.(1639-1641)ACC>ACA	p.T547T	IQSEC3_uc001qhu.1_Silent_p.T547T	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	850	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)	3	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)										0.538462	21.022578	21.039041	7	6	KEEP	---	---	---	---	capture		Silent	SNP	271198	271198	8122	12	C	A	A	A	262	21	IQSEC3	2	2
H3F3C	440093	broad.mit.edu	37	12	31945049	31945049	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31945049G>T	uc001rkr.2	-	c.52C>A	c.(52-54)CGC>AGC	p.R18S		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	18					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.336283	108.10185	110.739619	38	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31945049	31945049	7217	12	G	T	T	T	507	39	H3F3C	1	1
ADAMTS20	80070	broad.mit.edu	37	12	43896104	43896104	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43896104C>A	uc010skx.1	-	c.718G>T	c.(718-720)GTA>TTA	p.V240L		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	240						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				0.357143	184.582951	187.589732	60	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43896104	43896104	267	12	C	A	A	A	221	17	ADAMTS20	2	2
IRAK4	51135	broad.mit.edu	37	12	44176250	44176250	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44176250G>A	uc001rnu.3	+	c.1082G>A	c.(1081-1083)CGT>CAT	p.R361H	IRAK4_uc001rnt.3_Missense_Mutation_p.R361H|IRAK4_uc001rnx.3_Missense_Mutation_p.R237H|IRAK4_uc001rny.3_Missense_Mutation_p.R237H|IRAK4_uc010sky.1_Missense_Mutation_p.R237H|IRAK4_uc001rnv.3_Missense_Mutation_p.R237H|IRAK4_uc001rnw.3_Missense_Mutation_p.R237H	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	361	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)					p.R237H(HEC151-Tumor)	243				0.036082	-31.536788	13.768408	7	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44176250	44176250	8128	12	G	A	A	A	520	40	IRAK4	1	1
C12orf4	57102	broad.mit.edu	37	12	4609339	4609339	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4609339T>A	uc001qms.2	-	c.1405A>T	c.(1405-1407)AGC>TGC	p.S469C	C12orf4_uc001qmt.2_Missense_Mutation_p.S469C	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	469											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)										0.374737	529.340105	535.8806	178	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4609339	4609339	1729	12	T	A	A	A	728	56	C12orf4	3	3
C12orf41	54934	broad.mit.edu	37	12	49054302	49054302	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49054302G>A	uc001rrz.2	-	c.1623C>T	c.(1621-1623)CCC>CCT	p.P541P	C12orf41_uc001rrw.2_Silent_p.P163P|C12orf41_uc001rrx.2_Silent_p.P358P|C12orf41_uc001rry.2_Intron|C12orf41_uc001rru.2_5'UTR|C12orf41_uc001rrv.2_Silent_p.P76P	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	hypothetical protein LOC54934	358										ovary(2)	2														0.333333	52.85933	54.113297	17	34	KEEP	---	---	---	---	capture		Silent	SNP	49054302	49054302	1731	12	G	A	A	A	444	35	C12orf41	2	2
ADCY6	112	broad.mit.edu	37	12	49170886	49170886	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49170886C>A	uc001rsh.3	-	c.1376_splice	c.e5+1	p.S459_splice	ADCY6_uc001rsj.3_Splice_Site_SNP_p.S459_splice|ADCY6_uc001rsi.3_Splice_Site_SNP_p.S459_splice|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085			adenylate cyclase 6 isoform a						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0														0.471459	736.850686	737.178892	223	250	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	49170886	49170886	299	12	C	A	A	A	247	19	ADCY6	5	1
BIN2	51411	broad.mit.edu	37	12	51696509	51696509	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51696509G>C	uc001ryg.2	-	c.273C>G	c.(271-273)AGC>AGG	p.S91R	BIN2_uc009zlz.2_Missense_Mutation_p.S91R|BIN2_uc001ryh.2_5'UTR|BIN2_uc010sng.1_Missense_Mutation_p.S65R	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	91	BAR.					cytoplasm	protein binding			ovary(1)	1														0.204604	202.182285	233.843378	80	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51696509	51696509	1458	12	G	C	C	C	490	38	BIN2	3	3
OR9K2	441639	broad.mit.edu	37	12	55523872	55523872	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55523872T>A	uc010spe.1	+	c.320T>A	c.(319-321)ATG>AAG	p.M107K		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	107	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2														0.219178	243.836929	275.608371	96	342	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55523872	55523872	11665	12	T	A	A	A	663	51	OR9K2	3	3
NTF3	4908	broad.mit.edu	37	12	5603537	5603537	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5603537G>T	uc001qnk.3	+	c.196G>T	c.(196-198)GTG>TTG	p.V66L	NTF3_uc001qnl.3_Missense_Mutation_p.V53L	NM_001102654	NP_001096124	P20783	NTF3_HUMAN	neurotrophin 3 isoform 1 preproprotein	53					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						GBM(194;1104 2182 8339 9578 18493)								0.365462	259.85401	263.817641	91	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5603537	5603537	11101	12	G	T	T	T	572	44	NTF3	2	2
DGKA	1606	broad.mit.edu	37	12	56335292	56335292	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56335292A>G	uc001sij.2	+	c.1176_splice	c.e15-2	p.R392_splice	DGKA_uc001sih.1_Splice_Site_SNP_p.R280_splice|DGKA_uc001sii.1_Splice_Site_SNP_p.R250_splice|DGKA_uc009zod.1_Splice_Site_SNP_p.R311_splice|DGKA_uc001sik.2_Splice_Site_SNP_p.R392_splice|DGKA_uc001sil.2_Splice_Site_SNP_p.R392_splice|DGKA_uc001sim.2_Splice_Site_SNP_p.R392_splice|DGKA_uc001sin.2_Splice_Site_SNP_p.R392_splice|DGKA_uc009zof.2_Splice_Site_SNP_p.R38_splice|DGKA_uc001sio.2_Splice_Site_SNP_p.R134_splice	NM_001345	NP_001336			diacylglycerol kinase, alpha 80kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)									0.397004	613.844459	618.812237	212	322	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56335292	56335292	4644	12	A	G	G	G	91	7	DGKA	5	4
SRGAP1	57522	broad.mit.edu	37	12	64491077	64491077	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64491077G>T	uc010ssp.1	+	c.1735G>T	c.(1735-1737)GTT>TTT	p.V579F	SRGAP1_uc001srv.2_Missense_Mutation_p.V516F	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	579	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)										0.206897	106.965654	123.105449	42	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64491077	64491077	15659	12	G	T	T	T	520	40	SRGAP1	1	1
C12orf56	115749	broad.mit.edu	37	12	64746741	64746741	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64746741A>G	uc001ssa.3	-	c.348T>C	c.(346-348)TGT>TGC	p.C116C		NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	116											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)										0.430556	111.02058	111.32195	31	41	KEEP	---	---	---	---	capture		Silent	SNP	64746741	64746741	1744	12	A	G	G	G	180	14	C12orf56	4	4
NOP2	4839	broad.mit.edu	37	12	6675721	6675721	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6675721T>A	uc001qph.1	-	c.212A>T	c.(211-213)AAA>ATA	p.K71I	NOP2_uc001qpi.1_Missense_Mutation_p.K71I|NOP2_uc001qpj.1_Intron|NOP2_uc001qpk.1_Missense_Mutation_p.K71I|NOP2_uc001qpl.1_Missense_Mutation_p.K71I|NOP2_uc001qpm.1_Missense_Mutation_p.K71I	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	71					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2														0.355422	160.076737	163.134507	59	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6675721	6675721	10941	12	T	A	A	A	832	64	NOP2	3	3
CD163	9332	broad.mit.edu	37	12	7649613	7649613	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7649613C>T	uc001qsz.3	-	c.895G>A	c.(895-897)GAT>AAT	p.D299N	CD163_uc001qta.3_Missense_Mutation_p.D299N|CD163_uc009zfw.2_Missense_Mutation_p.D299N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	299	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8														0.343195	162.896296	166.568187	58	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7649613	7649613	3094	12	C	T	T	T	403	31	CD163	1	1
LIN7A	8825	broad.mit.edu	37	12	81283099	81283099	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81283099T>G	uc001szj.1	-	c.132A>C	c.(130-132)GAA>GAC	p.E44D	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	44	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)	1														0.245902	42.194374	45.78065	15	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81283099	81283099	9137	12	T	G	G	G	725	56	LIN7A	4	4
A2ML1	144568	broad.mit.edu	37	12	9001437	9001437	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9001437G>T	uc001quz.3	+	c.1955G>T	c.(1954-1956)GGG>GTG	p.G652V	A2ML1_uc001qva.1_Missense_Mutation_p.G232V|A2ML1_uc010sgm.1_Missense_Mutation_p.G152V	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1 precursor	496						extracellular space	endopeptidase inhibitor activity			ovary(2)	2														0.431466	926.01665	929.478885	362	477	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9001437	9001437	6	12	G	T	T	T	559	43	A2ML1	2	2
A2ML1	144568	broad.mit.edu	37	12	9027056	9027056	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9027056C>T	uc001quz.3	+	c.4257C>T	c.(4255-4257)ATC>ATT	p.I1419I	A2ML1_uc001qva.1_Silent_p.I999I|A2ML1_uc010sgm.1_Silent_p.I919I|A2ML1_uc001qvb.1_Non-coding_Transcript	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1 precursor	1263						extracellular space	endopeptidase inhibitor activity			ovary(2)	2														0.155914	49.343116	70.384227	29	157	KEEP	---	---	---	---	capture		Silent	SNP	9027056	9027056	6	12	C	T	T	T	369	29	A2ML1	2	2
APAF1	317	broad.mit.edu	37	12	99056233	99056233	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99056233G>T	uc001tfz.2	+	c.711_splice	c.e6-1	p.R237_splice	APAF1_uc001tfy.2_Splice_Site_SNP_p.R226_splice|APAF1_uc001tga.2_Splice_Site_SNP_p.R226_splice|APAF1_uc001tgb.2_Splice_Site_SNP_p.R237_splice|APAF1_uc001tgc.2_Splice_Site_SNP_p.R237_splice	NM_181861	NP_863651			apoptotic peptidase activating factor 1 isoform						activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)				(DU145-Tumor)	519				0.526316	173.662048	173.728447	60	54	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	99056233	99056233	765	12	G	T	T	T	455	35	APAF1	5	2
ZIC5	85416	broad.mit.edu	37	13	100617849	100617849	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100617849C>A	uc001vom.1	-	c.1774G>T	c.(1774-1776)GGG>TGG	p.G592W		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	592					cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.54955	186.632374	186.880749	61	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100617849	100617849	18273	13	C	A	A	A	286	22	ZIC5	2	2
MYO16	23026	broad.mit.edu	37	13	109496698	109496698	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109496698C>A	uc010agk.1	+	c.1105C>A	c.(1105-1107)CTG>ATG	p.L369M	MYO16_uc001vqt.1_Missense_Mutation_p.L347M|MYO16_uc001vqu.1_Missense_Mutation_p.L147M	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	347					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.519231	172.749509	172.782723	54	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109496698	109496698	10459	13	C	A	A	A	311	24	MYO16	2	2
RASA3	22821	broad.mit.edu	37	13	114781672	114781672	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114781672C>A	uc001vui.2	-	c.1281_splice	c.e13+1	p.M427_splice	RASA3_uc010tkk.1_Splice_Site_SNP_p.M395_splice|RASA3_uc001vuj.2_Splice_Site_SNP_p.M44_splice	NM_007368	NP_031394			RAS p21 protein activator 3						intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(1)|skin(1)	2	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)							4289				0.6	31.678125	31.809294	9	6	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	114781672	114781672	13522	13	C	A	A	A	234	18	RASA3	5	2
TUBA3C	7278	broad.mit.edu	37	13	19751081	19751081	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:19751081G>T	uc009zzj.2	-	c.1042C>A	c.(1042-1044)CCA>ACA	p.P348T		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	348					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)										0.629032	118.132097	119.040607	39	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19751081	19751081	17301	13	G	T	T	T	559	43	TUBA3C	2	2
C1QTNF9B	387911	broad.mit.edu	37	13	24466139	24466139	+	Silent	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:24466139T>A	uc010tcw.1	-	c.291A>T	c.(289-291)CCA>CCT	p.P97P	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_3'UTR|PCOTH_uc009zzx.2_3'UTR|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.P97P	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	97	Collagen-like 2.					collagen					0														0.25	107.475492	116.320646	39	117	KEEP	---	---	---	---	capture		Silent	SNP	24466139	24466139	2038	13	T	A	A	A	704	55	C1QTNF9B	3	3
RNF17	56163	broad.mit.edu	37	13	25444721	25444721	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25444721C>T	uc001upr.2	+	c.4291C>T	c.(4291-4293)CTT>TTT	p.L1431F	RNF17_uc010aab.2_Non-coding_Transcript|RNF17_uc010tde.1_Missense_Mutation_p.L1427F|RNF17_uc001ups.2_Missense_Mutation_p.L1370F|RNF17_uc010aac.2_Missense_Mutation_p.L623F|RNF17_uc010aad.2_Missense_Mutation_p.L441F	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1431					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)	1		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)										0.517483	248.149272	248.186977	74	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25444721	25444721	13938	13	C	T	T	T	312	24	RNF17	2	2
KL	9365	broad.mit.edu	37	13	33638051	33638051	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:33638051C>A	uc001uus.2	+	c.2767C>A	c.(2767-2769)CCG>ACG	p.P923T		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	923	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)	2	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)										0.583691	402.981624	404.398493	136	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33638051	33638051	8643	13	C	A	A	A	390	30	KL	2	2
CCNA1	8900	broad.mit.edu	37	13	37014314	37014314	+	Silent	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:37014314G>C	uc001uvr.3	+	c.1092G>C	c.(1090-1092)CTG>CTC	p.L364L	CCNA1_uc010teo.1_Silent_p.L320L|CCNA1_uc010abq.2_Silent_p.L320L|CCNA1_uc010abp.2_Silent_p.L320L|CCNA1_uc001uvs.3_Silent_p.L363L|CCNA1_uc010abr.2_Non-coding_Transcript	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	364					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein binding			lung(2)|ovary(1)	3		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)						263				0.505747	264.880471	264.885689	88	86	KEEP	---	---	---	---	capture		Silent	SNP	37014314	37014314	3036	13	G	C	C	C	600	47	CCNA1	3	3
THSD1	55901	broad.mit.edu	37	13	52971793	52971793	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52971793C>G	uc001vgo.2	-	c.595G>C	c.(595-597)GGT>CGT	p.G199R	THSD1_uc001vgp.2_Missense_Mutation_p.G199R|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	199	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)										0.578947	108.520349	108.820905	33	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52971793	52971793	16405	13	C	G	G	G	312	24	THSD1	3	3
SLITRK6	84189	broad.mit.edu	37	13	86368848	86368848	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:86368848C>A	uc001vll.1	-	c.1796G>T	c.(1795-1797)CGA>CTA	p.R599L	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	599	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)										0.518519	212.346165	212.386325	70	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86368848	86368848	15245	13	C	A	A	A	403	31	SLITRK6	1	1
SLITRK5	26050	broad.mit.edu	37	13	88329265	88329265	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88329265C>A	uc001vln.2	+	c.1622C>A	c.(1621-1623)ACC>AAC	p.T541N	SLITRK5_uc010tic.1_Missense_Mutation_p.T300N	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	541	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.495798	188.100585	188.102593	59	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88329265	88329265	15244	13	C	A	A	A	234	18	SLITRK5	2	2
POTEG	404785	broad.mit.edu	37	14	19553613	19553613	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:19553613G>C	uc001vuz.1	+	c.197G>C	c.(196-198)CGC>CCC	p.R66P	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	66				R -> C (in Ref. 1; AAS58870).						ovary(1)	1														0.176211	75.357539	98.037954	40	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19553613	19553613	12696	14	G	C	C	C	494	38	POTEG	3	3
NYNRIN	57523	broad.mit.edu	37	14	24878499	24878499	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24878499G>T	uc001wpf.3	+	c.1499G>T	c.(1498-1500)AGT>ATT	p.S500I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	500					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.538462	146.765097	146.882438	49	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24878499	24878499	11201	14	G	T	T	T	468	36	NYNRIN	2	2
HEATR5A	25938	broad.mit.edu	37	14	31856408	31856408	+	Silent	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31856408T>A	uc001wrf.3	-	c.228A>T	c.(226-228)ATA>ATT	p.I76I	HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Silent_p.I369I	NM_015473	NP_056288			HEAT repeat containing 5A											ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)										0.582011	354.978004	356.089183	110	79	KEEP	---	---	---	---	capture		Silent	SNP	31856408	31856408	7314	14	T	A	A	A	680	53	HEATR5A	3	3
SYNE2	23224	broad.mit.edu	37	14	64518741	64518741	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64518741G>T	uc001xgl.2	+	c.8110G>T	c.(8110-8112)GAT>TAT	p.D2704Y	SYNE2_uc001xgm.2_Missense_Mutation_p.D2704Y	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2704	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.631579	250.029757	252.061105	84	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64518741	64518741	15967	14	G	T	T	T	533	41	SYNE2	2	2
PLEKHH1	57475	broad.mit.edu	37	14	68040019	68040019	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68040019G>A	uc001xjl.1	+	c.1755G>A	c.(1753-1755)CTG>CTA	p.L585L	PLEKHH1_uc010tsw.1_Silent_p.L153L|PLEKHH1_uc001xjm.1_Silent_p.L100L|PLEKHH1_uc001xjn.1_Silent_p.L100L	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	585	PH 1.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)										0.555556	179.496745	179.785455	60	48	KEEP	---	---	---	---	capture		Silent	SNP	68040019	68040019	12502	14	G	A	A	A	587	46	PLEKHH1	2	2
LASS3	204219	broad.mit.edu	37	15	100942990	100942990	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100942990T>A	uc002bwa.2	-	c.1113A>T	c.(1111-1113)AAA>AAT	p.K371N	LASS3_uc002bvz.2_Missense_Mutation_p.K360N|LASS3_uc002bwb.2_Missense_Mutation_p.K360N	NM_178842	NP_849164	Q8IU89	LASS3_HUMAN	LAG1 longevity assurance homolog 3	360					regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)	3	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)			NSCLC(135;1149 2482 10680 49908)								0.383721	88.05977	89.076596	33	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100942990	100942990	8963	15	T	A	A	A	725	56	LASS3	3	3
LRRK1	79705	broad.mit.edu	37	15	101605576	101605576	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101605576C>T	uc002bwr.2	+	c.4934C>T	c.(4933-4935)GCG>GTG	p.A1645V	LRRK1_uc010usb.1_Non-coding_Transcript|LRRK1_uc010usc.1_Non-coding_Transcript|LRRK1_uc002bws.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1645					protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)							1100				0.2	101.759214	122.254065	49	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101605576	101605576	9408	15	C	T	T	T	351	27	LRRK1	1	1
OR4N4	283694	broad.mit.edu	37	15	22382625	22382625	+	Silent	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22382625A>T	uc001yuc.1	+	c.153A>T	c.(151-153)TCA>TCT	p.S51S	LOC727924_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.1_Silent_p.S51S	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	51	Cytoplasmic (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)										0.380342	559.148873	565.023046	178	290	KEEP	---	---	---	---	capture		Silent	SNP	22382625	22382625	11488	15	A	T	T	T	80	7	OR4N4	3	3
GABRA5	2558	broad.mit.edu	37	15	27182421	27182421	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27182421C>A	uc001zbd.1	+	c.670C>A	c.(670-672)CAG>AAG	p.Q224K	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	224	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.626506	161.376253	162.533717	52	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27182421	27182421	6415	15	C	A	A	A	273	21	GABRA5	2	2
OCA2	4948	broad.mit.edu	37	15	28326894	28326894	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28326894C>T	uc001zbh.3	-	c.127G>A	c.(127-129)GGT>AGT	p.G43S	OCA2_uc010ayv.2_Missense_Mutation_p.G43S	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	43	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										0.421053	22.255061	22.342531	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28326894	28326894	11220	15	C	T	T	T	299	23	OCA2	1	1
HERC2	8924	broad.mit.edu	37	15	28412878	28412878	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28412878C>A	uc001zbj.2	-	c.10509G>T	c.(10507-10509)CTG>CTT	p.L3503L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3503					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				0.5	319.574772	319.574772	112	112	KEEP	---	---	---	---	capture		Silent	SNP	28412878	28412878	7341	15	C	A	A	A	262	21	HERC2	2	2
MGA	23269	broad.mit.edu	37	15	42042457	42042457	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42042457G>T	uc010ucy.1	+	c.6652G>T	c.(6652-6654)GAA>TAA	p.E2218*	MGA_uc010ucz.1_Nonsense_Mutation_p.E2009*|MGA_uc010uda.1_Nonsense_Mutation_p.E834*|MGA_uc001zoi.2_Nonsense_Mutation_p.E432*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2179	Basic motif.				regulation of transcription, DNA-dependent	MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|skin(1)	11		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)						606				0.528	193.161073	193.24069	66	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42042457	42042457	9930	15	G	T	T	T	429	33	MGA	5	2
MGA	23269	broad.mit.edu	37	15	42059364	42059364	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42059364G>A	uc010ucy.1	+	c.9084G>A	c.(9082-9084)ATG>ATA	p.M3028I	MGA_uc010ucz.1_Missense_Mutation_p.M2819I	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2989					regulation of transcription, DNA-dependent	MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|skin(1)	11		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)						606				0.604651	318.476908	320.093997	104	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42059364	42059364	9930	15	G	A	A	A	585	45	MGA	2	2
ZNF280D	54816	broad.mit.edu	37	15	56974587	56974587	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:56974587G>A	uc002adu.2	-	c.869C>T	c.(868-870)TCA>TTA	p.S290L	ZNF280D_uc002adv.2_Missense_Mutation_p.S277L|ZNF280D_uc010bfq.2_Missense_Mutation_p.S290L|ZNF280D_uc002adw.1_Missense_Mutation_p.S318L|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.2_Non-coding_Transcript	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)										0.288889	67.808104	71.407212	26	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56974587	56974587	18409	15	G	A	A	A	585	45	ZNF280D	2	2
ITGA11	22801	broad.mit.edu	37	15	68620556	68620556	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:68620556G>A	uc010bib.2	-	c.1946C>T	c.(1945-1947)CCA>CTA	p.P649L	ITGA11_uc002ari.2_Missense_Mutation_p.P649L	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	649	FG-GAP 7.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)									0.052632	-18.055787	18.102327	9	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68620556	68620556	8178	15	G	A	A	A	611	47	ITGA11	2	2
AP3B2	8120	broad.mit.edu	37	15	83333659	83333659	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83333659T>C	uc010uoi.1	-	c.2065A>G	c.(2065-2067)AGA>GGA	p.R689G	AP3B2_uc010uoh.1_Missense_Mutation_p.R670G|AP3B2_uc010uoj.1_Missense_Mutation_p.R638G|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.R306G|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	670	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.444444	25.896306	25.94487	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83333659	83333659	755	15	T	C	C	C	700	54	AP3B2	4	4
SLCO3A1	28232	broad.mit.edu	37	15	92459412	92459412	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:92459412G>T	uc002bqx.2	+	c.370G>T	c.(370-372)GCG>TCG	p.A124S	SLCO3A1_uc002bqy.2_Missense_Mutation_p.A124S|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.A66S	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	124	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity				0	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)											0.818182	29.279851	30.325551	9	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92459412	92459412	15225	15	G	T	T	T	546	42	SLCO3A1	2	2
GP2	2813	broad.mit.edu	37	16	20331665	20331665	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20331665G>T	uc002dgv.2	-	c.786C>A	c.(784-786)AGC>AGA	p.S262R	GP2_uc002dgw.2_Missense_Mutation_p.S259R|GP2_uc002dgx.2_Missense_Mutation_p.S115R|GP2_uc002dgy.2_Missense_Mutation_p.S112R	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	262	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)	3														0.579208	361.962192	363.062998	117	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20331665	20331665	6856	16	G	T	T	T	594	46	GP2	2	2
ARMC5	79798	broad.mit.edu	37	16	31473873	31473873	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31473873G>T	uc010vfn.1	+	c.1290G>T	c.(1288-1290)CGG>CGT	p.R430R	ARMC5_uc010vfo.1_Silent_p.R367R|ARMC5_uc002ecc.2_Silent_p.R335R|ARMC5_uc002eca.3_Silent_p.R335R|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Silent_p.R335R	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	335	ARM 5.						binding			pancreas(1)	1														0.578125	108.444898	108.780343	37	27	KEEP	---	---	---	---	capture		Silent	SNP	31473873	31473873	972	16	G	T	T	T	548	43	ARMC5	2	2
NUDT21	11051	broad.mit.edu	37	16	56468719	56468719	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56468719A>G	uc002eja.2	-	c.494T>C	c.(493-495)ATT>ACT	p.I165T	NUDT21_uc002eiz.2_Missense_Mutation_p.I90T	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	165	Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0														0.609091	250.644034	251.789665	67	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56468719	56468719	11143	16	A	G	G	G	52	4	NUDT21	4	4
ZFHX3	463	broad.mit.edu	37	16	72992414	72992414	+	Missense_Mutation	SNP	G	A	A	rs62620235		TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72992414G>A	uc002fck.2	-	c.1631C>T	c.(1630-1632)TCG>TTG	p.S544L	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	544					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.036697	-36.710724	13.952674	8	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72992414	72992414	18222	16	G	A	A	A	481	37	ZFHX3	1	1
CLEC18B	497190	broad.mit.edu	37	16	74447481	74447481	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74447481G>A	uc002fct.2	-	c.550C>T	c.(550-552)CCC>TCC	p.P184S	CLEC18B_uc002fcu.2_Missense_Mutation_p.P184S|CLEC18B_uc010vmu.1_Missense_Mutation_p.P104S|CLEC18B_uc010vmw.1_Missense_Mutation_p.P184S|CLEC18B_uc010vmv.1_5'Flank	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	184						extracellular region	sugar binding				0														0.080645	-3.151275	19.123127	10	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74447481	74447481	3640	16	G	A	A	A	559	43	CLEC18B	2	2
NUDT7	283927	broad.mit.edu	37	16	77759333	77759333	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77759333G>T	uc010chd.2	+	c.41G>T	c.(40-42)AGT>ATT	p.S14I	NUDT7_uc002fff.2_Missense_Mutation_p.S14I|NUDT7_uc010vnj.1_Missense_Mutation_p.S14I	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	14					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2														0.641667	252.400697	254.51931	77	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77759333	77759333	11149	16	G	T	T	T	468	36	NUDT7	2	2
NARFL	64428	broad.mit.edu	37	16	786372	786372	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:786372C>T	uc002cjr.2	-	c.333G>A	c.(331-333)CTG>CTA	p.L111L	NARFL_uc002cjp.2_Silent_p.L9L|NARFL_uc002cjq.2_Silent_p.L9L|NARFL_uc002cjs.2_Intron|NARFL_uc010brc.1_Intron|NARFL_uc010uur.1_Intron	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	111					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)												0.666667	32.95117	33.319054	10	5	KEEP	---	---	---	---	capture		Silent	SNP	786372	786372	10564	16	C	T	T	T	262	21	NARFL	2	2
CDYL2	124359	broad.mit.edu	37	16	80718706	80718706	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:80718706C>T	uc002ffs.2	-	c.345G>A	c.(343-345)AAG>AAA	p.K115K		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	115					chromatin assembly or disassembly	chromatin|nucleus	catalytic activity|chromatin binding|protein binding			central_nervous_system(1)	1														0.413333	90.508823	91.001282	31	44	KEEP	---	---	---	---	capture		Silent	SNP	80718706	80718706	3319	16	C	T	T	T	363	28	CDYL2	2	2
MYH8	4626	broad.mit.edu	37	17	10304031	10304031	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10304031C>A	uc002gmm.2	-	c.3411G>T	c.(3409-3411)AAG>AAT	p.K1137N		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1137	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														0.620915	290.151476	292.115635	95	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10304031	10304031	10436	17	C	A	A	A	363	28	MYH8	2	2
MYH8	4626	broad.mit.edu	37	17	10304093	10304093	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10304093G>A	uc002gmm.2	-	c.3349C>T	c.(3349-3351)CGC>TGC	p.R1117C		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1117	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														0.272727	58.672275	62.23766	21	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10304093	10304093	10436	17	G	A	A	A	507	39	MYH8	1	1
MYH1	4619	broad.mit.edu	37	17	10411835	10411835	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10411835G>T	uc002gmo.2	-	c.1742C>A	c.(1741-1743)TCT>TAT	p.S581Y		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	581	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.5	80.824804	80.824804	27	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10411835	10411835	10424	17	G	T	T	T	429	33	MYH1	2	2
MYH1	4619	broad.mit.edu	37	17	10415822	10415822	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10415822C>A	uc002gmo.2	-	c.1050G>T	c.(1048-1050)GTG>GTT	p.V350V		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	350	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.564972	324.611098	325.260289	100	77	KEEP	---	---	---	---	capture		Silent	SNP	10415822	10415822	10424	17	C	A	A	A	210	17	MYH1	2	2
DNAH9	1770	broad.mit.edu	37	17	11845782	11845782	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11845782G>T	uc002gne.2	+	c.12823G>T	c.(12823-12825)GAG>TAG	p.E4275*	DNAH9_uc010coo.2_Nonsense_Mutation_p.E3493*|DNAH9_uc002gnf.2_Nonsense_Mutation_p.E587*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4275					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)										0.552083	150.570447	150.796981	53	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11845782	11845782	4791	17	G	T	T	T	533	41	DNAH9	5	2
RICH2	9912	broad.mit.edu	37	17	12859271	12859271	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12859271C>A	uc002gnr.3	+	c.1224C>A	c.(1222-1224)CCC>CCA	p.P408P	RICH2_uc010vvk.1_Silent_p.P408P|RICH2_uc010vvl.1_Silent_p.P408P|RICH2_uc002gns.3_Silent_p.P208P|RICH2_uc010vvm.1_Silent_p.P408P|RICH2_uc010vvn.1_Non-coding_Transcript|RICH2_uc002gnt.1_Silent_p.P131P	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	408	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0														0.268293	28.404995	30.393729	11	30	KEEP	---	---	---	---	capture		Silent	SNP	12859271	12859271	13832	17	C	A	A	A	262	21	RICH2	2	2
INPP5K	51763	broad.mit.edu	37	17	1416816	1416816	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1416816G>A	uc002fsr.2	-	c.192C>T	c.(190-192)TCC>TCT	p.S64S	INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_Intron|INPP5K_uc010vqm.1_Silent_p.S64S|INPP5K_uc010cjs.2_Intron	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	64	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0														0.274194	98.200385	103.893141	34	90	KEEP	---	---	---	---	capture		Silent	SNP	1416816	1416816	8061	17	G	A	A	A	496	39	INPP5K	1	1
RAI1	10743	broad.mit.edu	37	17	17699559	17699559	+	Silent	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17699559G>C	uc002grm.2	+	c.3297G>C	c.(3295-3297)GGG>GGC	p.G1099G	RAI1_uc002grn.1_Silent_p.G1099G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1099						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(1115;0.0276)										0.6875	33.31846	33.815844	11	5	KEEP	---	---	---	---	capture		Silent	SNP	17699559	17699559	13467	17	G	C	C	C	522	41	RAI1	3	3
MAP2K3	5606	broad.mit.edu	37	17	21205487	21205487	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21205487C>T	uc002gys.2	+	c.432C>T	c.(430-432)GAC>GAT	p.D144D	MAP2K3_uc002gyt.2_Silent_p.D115D|MAP2K3_uc002gyu.2_Silent_p.D115D	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	144	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)						346				0.105263	5.238547	17.017684	8	68	KEEP	---	---	---	---	capture		Silent	SNP	21205487	21205487	9621	17	C	T	T	T	220	17	MAP2K3	2	2
MAP2K3	5606	broad.mit.edu	37	17	21208440	21208440	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21208440G>T	uc002gys.2	+	c.774G>T	c.(772-774)ATG>ATT	p.M258I	MAP2K3_uc002gyt.2_Missense_Mutation_p.M229I|MAP2K3_uc002gyu.2_Missense_Mutation_p.M229I	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	258	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)						346				0.260504	72.064672	78.250807	31	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21208440	21208440	9621	17	G	T	T	T	611	47	MAP2K3	2	2
NF1	4763	broad.mit.edu	37	17	29562685	29562685	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29562685A>G	uc002hgg.2	+	c.3765A>G	c.(3763-3765)CAA>CAG	p.Q1255Q	NF1_uc002hgh.2_Silent_p.Q1255Q|NF1_uc010csn.1_Silent_p.Q1115Q|NF1_uc002hgi.1_Silent_p.Q288Q	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1255	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.033175	-99.362105	51.103757	21	612	KEEP	---	---	---	---	capture		Silent	SNP	29562685	29562685	10756	17	A	G	G	G	24	2	NF1	4	4
PSMD11	5717	broad.mit.edu	37	17	30773989	30773989	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30773989G>C	uc010cta.1	+	c.118G>C	c.(118-120)GAA>CAA	p.E40Q	PSMD11_uc010wbz.1_Missense_Mutation_p.E40Q|PSMD11_uc002hhm.2_Missense_Mutation_p.E40Q	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			Ovarian(130;1038 1716 9294 11987 19279)								0.517544	220.13059	220.16111	59	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30773989	30773989	13147	17	G	C	C	C	585	45	PSMD11	3	3
RASL10B	91608	broad.mit.edu	37	17	34068139	34068139	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34068139G>C	uc002hju.2	+	c.427G>C	c.(427-429)GTG>CTG	p.V143L		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	143	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.607143	122.902298	123.487565	34	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34068139	34068139	13541	17	G	C	C	C	520	40	RASL10B	3	3
KRT26	353288	broad.mit.edu	37	17	38926662	38926662	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38926662C>A	uc002hvf.2	-	c.525_splice	c.e3-1	p.K175_splice		NM_181539	NP_853517			keratin 26							intermediate filament	structural molecule activity				0		Breast(137;0.00526)												0.479532	246.336763	246.399176	82	89	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	38926662	38926662	8778	17	C	A	A	A	312	24	KRT26	5	2
ARHGAP27	201176	broad.mit.edu	37	17	43481819	43481819	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43481819C>T	uc002iix.2	-	c.382G>A	c.(382-384)GAG>AAG	p.E128K	ARHGAP27_uc010dak.2_Missense_Mutation_p.E101K|ARHGAP27_uc010wjl.1_Missense_Mutation_p.E269K	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	469					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)													0.214286	33.784954	39.063575	15	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43481819	43481819	888	17	C	T	T	T	416	32	ARHGAP27	2	2
IMP5	162540	broad.mit.edu	37	17	43922651	43922651	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43922651C>A	uc010wka.1	+	c.379C>A	c.(379-381)CAA>AAA	p.Q127K	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	127	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		NSCLC(24;34 1393 18470)								0.275862	81.151607	86.397917	32	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43922651	43922651	8022	17	C	A	A	A	273	21	IMP5	2	2
MAPT	4137	broad.mit.edu	37	17	44049296	44049296	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44049296A>T	uc010dau.2	+	c.205A>T	c.(205-207)ACT>TCT	p.T69S	MAPT_uc002ijr.3_Missense_Mutation_p.T69S|MAPT_uc002ijs.3_Missense_Mutation_p.T69S|MAPT_uc002ijx.3_Missense_Mutation_p.T69S|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Missense_Mutation_p.T69S	NM_001123066	NP_001116538	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 6	69					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)												0.269231	17.715124	18.963657	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44049296	44049296	9680	17	A	T	T	T	78	6	MAPT	3	3
MYBBP1A	10514	broad.mit.edu	37	17	4443251	4443251	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4443251A>C	uc002fxz.3	-	c.3446T>G	c.(3445-3447)TTG>TGG	p.L1149W	MYBBP1A_uc002fyb.3_Missense_Mutation_p.L1149W|MYBBP1A_uc002fya.3_Missense_Mutation_p.L94W|MYBBP1A_uc010vsa.1_Missense_Mutation_p.L191W	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 1	1149					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2														0.618644	542.40741	545.330215	146	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4443251	4443251	10403	17	A	C	C	C	65	5	MYBBP1A	4	4
SAMD14	201191	broad.mit.edu	37	17	48193422	48193422	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48193422C>T	uc002iqf.2	-	c.532G>A	c.(532-534)GCC>ACC	p.A178T	SAMD14_uc002iqd.2_5'UTR|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqg.2_Missense_Mutation_p.A178T	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	178											0														0.133333	22.025537	37.597985	16	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48193422	48193422	14299	17	C	T	T	T	351	27	SAMD14	1	1
PPM1D	8493	broad.mit.edu	37	17	58711293	58711293	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58711293A>T	uc002iyt.1	+	c.781A>T	c.(781-783)ACA>TCA	p.T261S	PPM1D_uc010ddm.1_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	261	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)											0.162162	37.388705	49.426682	18	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58711293	58711293	12772	17	A	T	T	T	78	6	PPM1D	3	3
CACNG5	27091	broad.mit.edu	37	17	64880682	64880682	+	Silent	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64880682T>C	uc002jfr.2	+	c.474T>C	c.(472-474)GAT>GAC	p.D158D	CACNG5_uc010wqi.1_Silent_p.D158D|CACNG5_uc010wqj.1_Silent_p.D158D	NM_014404	NP_055219	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	158					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|postsynaptic density	voltage-gated calcium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)											0.305882	220.820938	229.412899	78	177	KEEP	---	---	---	---	capture		Silent	SNP	64880682	64880682	2676	17	T	C	C	C	660	51	CACNG5	4	4
KIF19	124602	broad.mit.edu	37	17	72339179	72339179	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72339179C>A	uc002jkm.3	+	c.336C>A	c.(334-336)TAC>TAA	p.Y112*	KIF19_uc002jkj.2_Nonsense_Mutation_p.Y112*|KIF19_uc002jkk.2_Nonsense_Mutation_p.Y112*|KIF19_uc002jkl.2_Nonsense_Mutation_p.Y112*	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	112	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.5	9.724872	9.724872	3	3	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72339179	72339179	8593	17	C	A	A	A	220	17	KIF19	5	2
NUP85	79902	broad.mit.edu	37	17	73229200	73229200	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73229200T>A	uc002jng.1	+	c.1562T>A	c.(1561-1563)CTC>CAC	p.L521H	NUP85_uc010dgd.1_Missense_Mutation_p.L476H|NUP85_uc010wrv.1_Missense_Mutation_p.L475H|NUP85_uc002jnh.1_Missense_Mutation_p.L124H	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)											0.060241	-30.567987	36.658876	20	312	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73229200	73229200	11175	17	T	A	A	A	702	54	NUP85	3	3
MGAT5B	146664	broad.mit.edu	37	17	74928824	74928824	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74928824C>A	uc002jti.2	+	c.1422C>A	c.(1420-1422)GCC>GCA	p.A474A	MGAT5B_uc002jth.2_Silent_p.A463A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	463	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)	2														0.441176	44.570477	44.662681	15	19	KEEP	---	---	---	---	capture		Silent	SNP	74928824	74928824	9939	17	C	A	A	A	288	23	MGAT5B	1	1
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577142C>A	uc002gim.2	-	c.796G>T	c.(796-798)GGA>TGA	p.G266*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.G266*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.G134*|TP53_uc010cng.1_Nonsense_Mutation_p.G134*|TP53_uc002gii.1_Nonsense_Mutation_p.G134*|TP53_uc010cnh.1_Nonsense_Mutation_p.G266*|TP53_uc010cni.1_Nonsense_Mutation_p.G266*|TP53_uc002gij.2_Nonsense_Mutation_p.G266*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	266	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.G266R(41)|p.G266*(12)|p.0?(6)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.G266R(NCO2-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.621212	120.602745	121.466758	41	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7577142	7577142	16923	17	C	A	A	A	286	22	TP53	5	2
ENPP7	339221	broad.mit.edu	37	17	77708995	77708995	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77708995G>T	uc002jxa.2	+	c.553G>T	c.(553-555)GAG>TAG	p.E185*		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	185					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)											0.477273	61.472378	61.49206	21	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77708995	77708995	5328	17	G	T	T	T	429	33	ENPP7	5	2
MC5R	4161	broad.mit.edu	37	18	13825938	13825938	+	Silent	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13825938A>T	uc010xaf.1	+	c.174A>T	c.(172-174)ATA>ATT	p.I58I		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	58	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)	3														0.25	9.992306	10.90134	4	12	KEEP	---	---	---	---	capture		Silent	SNP	13825938	13825938	9756	18	A	T	T	T	189	15	MC5R	3	3
AQP4	361	broad.mit.edu	37	18	24436373	24436373	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:24436373G>A	uc002kwa.2	-	c.774C>T	c.(772-774)TTC>TTT	p.F258F	AQP4_uc002kvz.2_Silent_p.F236F	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	258	Cytoplasmic (Potential).				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity				0	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)													0.040956	-46.06865	20.619862	12	281	KEEP	---	---	---	---	capture		Silent	SNP	24436373	24436373	839	18	G	A	A	A	581	45	AQP4	2	2
SMCHD1	23347	broad.mit.edu	37	18	2784545	2784545	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2784545C>T	uc002klm.3	+	c.5645C>T	c.(5644-5646)CCA>CTA	p.P1882L	SMCHD1_uc002klk.3_Non-coding_Transcript|SMCHD1_uc002kll.3_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1882					chromosome organization		ATP binding				0														0.433333	75.822921	76.058354	26	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2784545	2784545	15286	18	C	T	T	T	273	21	SMCHD1	2	2
COLEC12	81035	broad.mit.edu	37	18	334908	334908	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:334908C>A	uc002kkm.2	-	c.1650G>T	c.(1648-1650)CAG>CAT	p.Q550H		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	550	Collagen-like 3.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)												0.34375	30.624024	31.309946	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	334908	334908	3850	18	C	A	A	A	311	24	COLEC12	2	2
TCEB3B	51224	broad.mit.edu	37	18	44561359	44561359	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44561359T>A	uc002lcr.1	-	c.277A>T	c.(277-279)AGC>TGC	p.S93C	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	93					transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding|transcription elongation regulator activity			ovary(2)|large_intestine(1)|pancreas(1)	4														0.5	67.439283	67.439283	25	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44561359	44561359	16208	18	T	A	A	A	702	54	TCEB3B	3	3
MAPK4	5596	broad.mit.edu	37	18	48248352	48248352	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48248352C>A	uc002lev.2	+	c.736C>A	c.(736-738)CCT>ACT	p.P246T	MAPK4_uc010xdm.1_Missense_Mutation_p.P35T|MAPK4_uc010doz.2_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	246	Protein kinase.				cell cycle|protein phosphorylation		ATP binding|MAP kinase activity	p.P246T(1)		lung(2)	2		Colorectal(6;0.0297)		Colorectal(21;0.156)						110				0.769231	96.061855	98.649346	30	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48248352	48248352	9663	18	C	A	A	A	286	22	MAPK4	2	2
ZFP161	7541	broad.mit.edu	37	18	5290955	5290955	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5290955C>A	uc002kmq.2	-	c.1252G>T	c.(1252-1254)GTT>TTT	p.V418F	ZFP161_uc002kmr.2_Missense_Mutation_p.V418F|ZFP161_uc010dkp.2_Missense_Mutation_p.V418F	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	418					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.341772	230.30753	235.455317	81	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5290955	5290955	18228	18	C	A	A	A	234	18	ZFP161	2	2
CCBE1	147372	broad.mit.edu	37	18	57105361	57105361	+	Silent	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:57105361A>T	uc002lib.2	-	c.969T>A	c.(967-969)CCT>CCA	p.P323P	CCBE1_uc010dpq.2_Silent_p.P52P|CCBE1_uc002lia.2_Silent_p.P176P	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	323	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			ovary(1)	1		Colorectal(73;0.175)				NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)								0.386364	48.134634	48.641643	17	27	KEEP	---	---	---	---	capture		Silent	SNP	57105361	57105361	2851	18	A	T	T	T	80	7	CCBE1	3	3
NETO1	81832	broad.mit.edu	37	18	70451089	70451089	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70451089C>T	uc002lkw.2	-	c.692G>A	c.(691-693)AGG>AAG	p.R231K	NETO1_uc002lkx.1_Missense_Mutation_p.R230K|NETO1_uc002lky.1_Missense_Mutation_p.R231K	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	231	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.629268	452.003614	455.063808	129	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70451089	70451089	10738	18	C	T	T	T	312	24	NETO1	2	2
LRRC30	339291	broad.mit.edu	37	18	7231199	7231199	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7231199G>A	uc010wzk.1	+	c.63G>A	c.(61-63)ACG>ACA	p.T21T		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	21										ovary(1)|liver(1)	2														0.408889	270.857448	272.487414	92	133	KEEP	---	---	---	---	capture		Silent	SNP	7231199	7231199	9360	18	G	A	A	A	496	39	LRRC30	1	1
YES1	7525	broad.mit.edu	37	18	751704	751704	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:751704C>A	uc002kky.2	-	c.371_splice	c.e3+1	p.T124_splice	YES1_uc002kkz.2_Splice_Site_SNP_p.T124_splice	NM_005433	NP_005424			viral oncogene yes-1 homolog 1						blood coagulation|leukocyte migration|protein phosphorylation|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	p.?(1)		lung(2)|ovary(1)	3					Dasatinib(DB01254)				(SKUT1-Tumor)	156				0.290566	222.829563	233.208825	77	188	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	751704	751704	18057	18	C	A	A	A	247	19	YES1	5	1
GTPBP3	84705	broad.mit.edu	37	19	17449507	17449507	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17449507A>T	uc002ngg.3	+	c.548A>T	c.(547-549)GAG>GTG	p.E183V	GTPBP3_uc010xpo.1_Missense_Mutation_p.E205V|GTPBP3_uc010ear.1_Non-coding_Transcript|GTPBP3_uc002ngh.3_Missense_Mutation_p.E183V|GTPBP3_uc010eas.2_Missense_Mutation_p.E183V|GTPBP3_uc002ngi.3_5'UTR	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform	183					tRNA modification	mitochondrion	GTP binding|GTPase activity				0														0.596154	85.377335	85.790776	31	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17449507	17449507	7161	19	A	T	T	T	143	11	GTPBP3	3	3
SFRS14	10147	broad.mit.edu	37	19	19105995	19105995	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19105995C>A	uc002nkz.1	-	c.3128G>T	c.(3127-3129)GGC>GTC	p.G1043V	SFRS14_uc002nkx.2_Missense_Mutation_p.G1029V|SFRS14_uc002nla.1_Missense_Mutation_p.G1029V|SFRS14_uc002nlb.2_Missense_Mutation_p.G1029V|SFRS14_uc010xqk.1_Missense_Mutation_p.G798V	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	1029	G-patch.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)											0.584615	111.061767	111.473998	38	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19105995	19105995	14660	19	C	A	A	A	338	26	SFRS14	2	2
CILP2	148113	broad.mit.edu	37	19	19655529	19655529	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19655529C>A	uc002nmw.3	+	c.2193C>A	c.(2191-2193)CGC>CGA	p.R731R	CILP2_uc002nmv.3_Silent_p.R725R	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	725						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.615385	23.185828	23.386665	8	5	KEEP	---	---	---	---	capture		Silent	SNP	19655529	19655529	3564	19	C	A	A	A	327	26	CILP2	2	2
ZNF493	284443	broad.mit.edu	37	19	21606372	21606372	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21606372A>C	uc002npw.2	+	c.911A>C	c.(910-912)CAA>CCA	p.Q304P	ZNF493_uc002npx.2_Missense_Mutation_p.Q176P|ZNF493_uc002npy.2_Missense_Mutation_p.Q176P	NM_001076678	NP_001070146	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 3	176	C2H2-type 6; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.087912	7.330715	22.954416	8	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21606372	21606372	18538	19	A	C	C	C	65	5	ZNF493	4	4
ZNF257	113835	broad.mit.edu	37	19	22271935	22271935	+	Silent	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22271935T>C	uc010ecx.2	+	c.1383T>C	c.(1381-1383)TGT>TGC	p.C461C	ZNF257_uc010ecy.2_Silent_p.C429C	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	461	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.633333	129.162019	130.09962	38	22	KEEP	---	---	---	---	capture		Silent	SNP	22271935	22271935	18391	19	T	C	C	C	764	59	ZNF257	4	4
ZNF492	57615	broad.mit.edu	37	19	22847468	22847468	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22847468G>T	uc002nqw.3	+	c.997G>T	c.(997-999)GGA>TGA	p.G333*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)												0.633333	62.830209	63.298337	19	11	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22847468	22847468	18537	19	G	T	T	T	611	47	ZNF492	5	2
ZNF536	9745	broad.mit.edu	37	19	31039161	31039161	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039161G>T	uc002nsu.1	+	c.2635G>T	c.(2635-2637)GAG>TAG	p.E879*	ZNF536_uc010edd.1_Nonsense_Mutation_p.E879*	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.22807	79.112283	90.671954	39	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31039161	31039161	18568	19	G	T	T	T	533	41	ZNF536	5	2
TSHZ3	57616	broad.mit.edu	37	19	31768797	31768797	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768797C>A	uc002nsy.3	-	c.1902G>T	c.(1900-1902)AAG>AAT	p.K634N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	634					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.468966	179.798327	179.930241	68	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768797	31768797	17176	19	C	A	A	A	363	28	TSHZ3	2	2
WDR62	284403	broad.mit.edu	37	19	36564410	36564410	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36564410A>T	uc002odd.2	+	c.1210A>T	c.(1210-1212)AGC>TGC	p.S404C	WDR62_uc002odc.2_Missense_Mutation_p.S404C|WDR62_uc002odb.2_Missense_Mutation_p.S404C	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 1	404	WD 6.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)											0.458564	254.294814	254.566273	83	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36564410	36564410	17886	19	A	T	T	T	91	7	WDR62	3	3
FCGBP	8857	broad.mit.edu	37	19	40430352	40430352	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40430352C>T	uc002omp.3	-	c.1591G>A	c.(1591-1593)GTC>ATC	p.V531I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	531	VWFD 1.					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)											0.171429	12.330663	15.900555	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40430352	40430352	6015	19	C	T	T	T	247	19	FCGBP	1	1
ZNF780B	163131	broad.mit.edu	37	19	40541968	40541968	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40541968C>A	uc002omu.2	-	c.798G>T	c.(796-798)CAG>CAT	p.Q266H	ZNF780B_uc002omv.2_Missense_Mutation_p.Q118H	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	266	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.191964	91.199808	111.050308	43	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40541968	40541968	18751	19	C	A	A	A	363	28	ZNF780B	2	2
ATP1A3	478	broad.mit.edu	37	19	42474434	42474434	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42474434C>A	uc010xwh.1	-	c.2484G>T	c.(2482-2484)GAG>GAT	p.E828D	ATP1A3_uc010xwf.1_Missense_Mutation_p.E826D|ATP1A3_uc010xwg.1_Missense_Mutation_p.E785D|ATP1A3_uc002osg.2_Missense_Mutation_p.E815D|ATP1A3_uc002osh.2_Missense_Mutation_p.E815D	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	815	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2														0.585185	232.013234	232.865827	79	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42474434	42474434	1149	19	C	A	A	A	311	24	ATP1A3	2	2
CCDC155	147872	broad.mit.edu	37	19	49902741	49902741	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49902741G>C	uc002pnm.1	+	c.775G>C	c.(775-777)GAG>CAG	p.E259Q	CCDC155_uc002pnl.1_Missense_Mutation_p.E259Q|CCDC155_uc010emx.1_Missense_Mutation_p.E232Q	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	259	Potential.					integral to membrane	calcium ion binding			ovary(1)	1														0.211538	32.411954	36.400583	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49902741	49902741	2910	19	G	C	C	C	585	45	CCDC155	3	3
CD33	945	broad.mit.edu	37	19	51728683	51728683	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51728683C>A	uc002pwa.2	+	c.247C>A	c.(247-249)CAG>AAG	p.Q83K	CD33_uc010eos.1_Missense_Mutation_p.Q83K|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	83	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)									0.439344	414.234001	415.204901	134	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51728683	51728683	3133	19	C	A	A	A	221	17	CD33	2	2
CD33	945	broad.mit.edu	37	19	51742866	51742866	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51742866T>A	uc002pwa.2	+	c.1018T>A	c.(1018-1020)TAT>AAT	p.Y340N	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.Y213N|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	340	Cytoplasmic (Potential).|ITIM motif 1.			Y->A: Abolishes binding to PTPN6 and PTPN11. Increases binding of red blood cells.	cell adhesion|cell-cell signaling|negative regulation of cell proliferation	integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)									0.191011	65.55537	81.439347	34	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51742866	51742866	3133	19	T	A	A	A	793	61	CD33	3	3
FPR1	2357	broad.mit.edu	37	19	52249355	52249355	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52249355G>A	uc002pxq.2	-	c.893C>T	c.(892-894)CCC>CTC	p.P298L		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	298	Helical; Name=7; (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)									0.181818	84.959658	104.809233	38	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52249355	52249355	6284	19	G	A	A	A	559	43	FPR1	2	2
FPR1	2357	broad.mit.edu	37	19	52250065	52250065	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52250065G>T	uc002pxq.2	-	c.183C>A	c.(181-183)ACC>ACA	p.T61T		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	61	Cytoplasmic (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)									0.385965	257.949175	260.546898	88	140	KEEP	---	---	---	---	capture		Silent	SNP	52250065	52250065	6284	19	G	T	T	T	600	47	FPR1	2	2
ZNF480	147657	broad.mit.edu	37	19	52825491	52825491	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52825491C>T	uc010ydl.1	+	c.988C>T	c.(988-990)CTA>TTA	p.L330L	ZNF480_uc002pyv.2_Silent_p.L253L|ZNF480_uc010ydm.1_Silent_p.L287L|ZNF480_uc010epn.2_Silent_p.L161L	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	330	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)										0.166667	48.310406	63.482094	24	120	KEEP	---	---	---	---	capture		Silent	SNP	52825491	52825491	18529	19	C	T	T	T	415	32	ZNF480	2	2
ZNF528	84436	broad.mit.edu	37	19	52919465	52919465	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52919465G>T	uc002pzh.2	+	c.1360G>T	c.(1360-1362)GCC>TCC	p.A454S	ZNF528_uc002pzi.2_Missense_Mutation_p.A221S	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	454	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)										0.177165	92.110691	117.057242	45	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52919465	52919465	18563	19	G	T	T	T	598	46	ZNF528	2	2
NLRP12	91662	broad.mit.edu	37	19	54310875	54310875	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54310875G>T	uc002qcj.3	-	c.2120C>A	c.(2119-2121)GCA>GAA	p.A707E	NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qch.3_Missense_Mutation_p.A706E|NLRP12_uc002qci.3_Missense_Mutation_p.A706E|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Missense_Mutation_p.A707E	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	706					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.229167	53.599959	60.057548	22	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54310875	54310875	10877	19	G	T	T	T	598	46	NLRP12	2	2
NLRP12	91662	broad.mit.edu	37	19	54327144	54327144	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54327144C>T	uc002qcj.3	-	c.285G>A	c.(283-285)GTG>GTA	p.V95V	NLRP12_uc002qch.3_Silent_p.V95V|NLRP12_uc002qci.3_Silent_p.V95V|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Silent_p.V95V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	95	DAPIN.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.173516	147.488023	191.524662	76	362	KEEP	---	---	---	---	capture		Silent	SNP	54327144	54327144	10877	19	C	T	T	T	366	29	NLRP12	2	2
LILRA6	79168	broad.mit.edu	37	19	54744828	54744828	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54744828C>A	uc002qek.1	-	c.834G>T	c.(832-834)CAG>CAT	p.Q278H	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.Q278H|LILRA6_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.Q278H|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.Q278H|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.Q278H|LILRA6_uc010yeq.1_Missense_Mutation_p.Q278H|LILRA6_uc002qet.3_Non-coding_Transcript|LILRA6_uc002qeu.1_Missense_Mutation_p.Q278H|LILRA6_uc002qev.1_Missense_Mutation_p.Q139H	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	278	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane	receptor activity				0	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.248	74.388833	81.595305	31	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54744828	54744828	9115	19	C	A	A	A	311	24	LILRA6	2	2
LILRA2	11027	broad.mit.edu	37	19	55086954	55086954	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55086954A>G	uc002qgg.3	+	c.887A>G	c.(886-888)TAC>TGC	p.Y296C	LILRA2_uc010ern.2_Missense_Mutation_p.Y296C|LILRA2_uc002qgf.2_Missense_Mutation_p.Y296C|LILRA2_uc010yfe.1_Missense_Mutation_p.Y296C|LILRA2_uc010yff.1_Missense_Mutation_p.Y284C|LILRA2_uc010ero.2_Missense_Mutation_p.Y284C|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	296	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)										0.215517	71.228587	79.879594	25	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55086954	55086954	9111	19	A	G	G	G	182	14	LILRA2	4	4
NLRP2	55655	broad.mit.edu	37	19	55501456	55501456	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55501456G>A	uc002qij.2	+	c.2433G>A	c.(2431-2433)CAG>CAA	p.Q811Q	NLRP2_uc010yfp.1_Silent_p.Q788Q|NLRP2_uc010esn.2_Silent_p.Q787Q|NLRP2_uc010eso.2_Silent_p.Q808Q|NLRP2_uc010esp.2_Silent_p.Q789Q	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	811					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)										0.24375	95.837296	105.420043	39	121	KEEP	---	---	---	---	capture		Silent	SNP	55501456	55501456	10880	19	G	A	A	A	464	36	NLRP2	2	2
ZNF582	147948	broad.mit.edu	37	19	56901841	56901841	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56901841T>C	uc002qmy.2	-	c.132A>G	c.(130-132)ATA>ATG	p.I44M	ZNF582_uc002qmz.1_Missense_Mutation_p.I13M	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		Ovarian(183;1887 2032 4349 30507 51343)								0.425	413.662152	415.015348	119	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56901841	56901841	18609	19	T	C	C	C	680	53	ZNF582	4	4
PEG3	5178	broad.mit.edu	37	19	57326475	57326475	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57326475C>T	uc002qnu.2	-	c.3335G>A	c.(3334-3336)TGT>TAT	p.C1112Y	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C1083Y|PEG3_uc002qnv.2_Missense_Mutation_p.C1112Y|PEG3_uc002qnw.2_Missense_Mutation_p.C988Y|PEG3_uc002qnx.2_Missense_Mutation_p.C986Y|PEG3_uc010etr.2_Missense_Mutation_p.C1112Y	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1112	C2H2-type 6.				apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.034549	-93.905702	29.056167	18	503	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57326475	57326475	12141	19	C	T	T	T	221	17	PEG3	2	2
PEG3	5178	broad.mit.edu	37	19	57327680	57327680	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57327680C>A	uc002qnu.2	-	c.2130G>T	c.(2128-2130)AAG>AAT	p.K710N	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K681N|PEG3_uc002qnv.2_Missense_Mutation_p.K710N|PEG3_uc002qnw.2_Missense_Mutation_p.K586N|PEG3_uc002qnx.2_Missense_Mutation_p.K584N|PEG3_uc010etr.2_Missense_Mutation_p.K710N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	710					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.24911	160.892636	176.996958	70	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57327680	57327680	12141	19	C	A	A	A	415	32	PEG3	2	2
HCN2	610	broad.mit.edu	37	19	613921	613921	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:613921C>A	uc002lpe.2	+	c.1895C>A	c.(1894-1896)TCG>TAG	p.S632*		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	632	cAMP.|Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		Melanoma(145;1175 2427 8056 36306)								0.533333	22.448813	22.459934	8	7	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	613921	613921	7279	19	C	A	A	A	403	31	HCN2	5	1
VCAM1	7412	broad.mit.edu	37	1	101194677	101194677	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101194677G>C	uc001dti.2	+	c.943G>C	c.(943-945)GTT>CTT	p.V315L	VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.V253L	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	315	Ig-like C2-type 4.|Extracellular (Potential).				B cell differentiation|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)									0.243056	320.171343	346.15933	105	327	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101194677	101194677	17702	1	G	C	C	C	624	48	VCAM1	3	3
COL11A1	1301	broad.mit.edu	37	1	103461455	103461455	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103461455C>A	uc001dum.2	-	c.2341G>T	c.(2341-2343)GGT>TGT	p.G781C	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.G769C|COL11A1_uc001dun.2_Missense_Mutation_p.G730C|COL11A1_uc009weh.2_Missense_Mutation_p.G653C	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	769	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.480263	469.997426	470.095921	146	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103461455	103461455	3805	1	C	A	A	A	273	21	COL11A1	2	2
GSTM1	2944	broad.mit.edu	37	1	110235905	110235905	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110235905G>T	uc001dyk.2	+	c.645G>T	c.(643-645)TGG>TGT	p.W215C	GSTM1_uc001dyl.2_Missense_Mutation_p.W178C	NM_000561	NP_000552	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1 isoform 1	215					xenobiotic metabolic process	cytosol	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)									0.577465	132.701029	133.078658	41	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110235905	110235905	7117	1	G	T	T	T	559	43	GSTM1	2	2
DCLRE1B	64858	broad.mit.edu	37	1	114449766	114449766	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114449766G>T	uc001eeg.2	+	c.338G>T	c.(337-339)GGA>GTA	p.G113V	AP4B1_uc001eeb.2_5'Flank|AP4B1_uc001eec.2_5'Flank|AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|AP4B1_uc010owq.1_5'Flank|DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Intron	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	113					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.416058	147.522834	148.366889	57	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114449766	114449766	4466	1	G	T	T	T	533	41	DCLRE1B	2	2
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115256529T>A	uc009wgu.2	-	c.182A>T	c.(181-183)CAA>CTA	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(719)|p.Q61L(144)|p.Q61P(19)|p.Q61K(19)|p.Q61H(10)|p.Q61?(4)		haematopoietic_and_lymphoid_tissue(994)|skin(911)|thyroid(325)|NS(60)|large_intestine(52)|lung(29)|upper_aerodigestive_tract(25)|soft_tissue(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2520	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)			Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	p.Q61L(KMS21BM-Tumor)|p.Q61L(SNU719-Tumor)|p.Q61R(ONS76-Tumor)|p.Q61R(HS940.T-Tumor)|p.Q61R(KMS27-Tumor)|p.Q61L(HCC1195-Tumor)|p.Q61R(NCIH2347-Tumor)|p.Q61R(TT2609C02-Tumor)|p.Q61L(OCIAML3-Tumor)|p.Q61L(MHHES1-Tumor)|p.Q61L(IPC298-Tumor)|p.Q61L(MELJUSO-Tumor)|p.Q61L(MOLP8-Tumor)|p.Q61R(KU1919-Tumor)|p.Q61R(SKMEL2-Tumor)|p.Q61L(HEPG2-Tumor)|p.Q61R(SW1271-Tumor)|p.Q61L(C3A-Tumor)	128	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			0.403302	483.61856	487.08714	171	253	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115256529	115256529	11045	1	T	A	A	A	819	63	NRAS	3	3
HRNR	388697	broad.mit.edu	37	1	152188371	152188371	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152188371G>A	uc001ezt.1	-	c.5734C>T	c.(5734-5736)CAA>TAA	p.Q1912*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1912	21.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.035851	-134.157409	48.528053	28	753	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152188371	152188371	7653	1	G	A	A	A	624	48	HRNR	5	2
CRNN	49860	broad.mit.edu	37	1	152382653	152382653	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152382653A>T	uc001ezx.2	-	c.905T>A	c.(904-906)GTG>GAG	p.V302E		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	302	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.035604	-111.359698	39.740471	23	623	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152382653	152382653	4031	1	A	T	T	T	78	6	CRNN	3	3
LCE2B	26239	broad.mit.edu	37	1	152659594	152659594	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152659594G>A	uc001fai.2	+	c.275G>A	c.(274-276)TGT>TAT	p.C92Y		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	92	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.098446	6.917728	38.057175	19	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152659594	152659594	8989	1	G	A	A	A	624	48	LCE2B	2	2
GATAD2B	57459	broad.mit.edu	37	1	153792213	153792213	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153792213T>C	uc001fdb.3	-	c.336_splice	c.e3-1	p.S112_splice		NM_020699	NP_065750			GATA zinc finger domain containing 2B						regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)											0.231638	125.203715	136.865193	41	136	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	153792213	153792213	6525	1	T	C	C	C	689	53	GATAD2B	5	4
NUP210L	91181	broad.mit.edu	37	1	154115987	154115987	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154115987C>A	uc001fdw.2	-	c.407G>T	c.(406-408)CGG>CTG	p.R136L	NUP210L_uc010peh.1_Missense_Mutation_p.R136L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	136						integral to membrane				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)											0.191558	128.344857	155.743738	59	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154115987	154115987	11166	1	C	A	A	A	299	23	NUP210L	1	1
EFNA1	1942	broad.mit.edu	37	1	155103906	155103906	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155103906G>A	uc001fhh.2	+	c.184G>A	c.(184-186)GCT>ACT	p.A62T	EFNA1_uc001fhi.2_Missense_Mutation_p.A62T|EFNA1_uc009wpd.1_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	ephrin A1 isoform a precursor	62					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)											0.192771	29.057503	36.374627	16	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155103906	155103906	5138	1	G	A	A	A	494	38	EFNA1	1	1
RUSC1	23623	broad.mit.edu	37	1	155296443	155296443	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155296443C>A	uc001fkj.2	+	c.1934C>A	c.(1933-1935)ACA>AAA	p.T645K	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.T176K|RUSC1_uc001fkl.2_Missense_Mutation_p.T235K|RUSC1_uc001fkp.2_Missense_Mutation_p.T176K|RUSC1_uc001fkq.2_Intron|RUSC1_uc010pgb.1_Missense_Mutation_p.T143K|RUSC1_uc009wqp.1_Missense_Mutation_p.T170K|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_Intron|RUSC1_uc001fkr.2_Missense_Mutation_p.T176K|RUSC1_uc001fks.2_5'UTR	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	645	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)											0.069767	-7.44917	17.355301	9	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155296443	155296443	14230	1	C	A	A	A	221	17	RUSC1	2	2
SH2D2A	9047	broad.mit.edu	37	1	156785870	156785870	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156785870G>T	uc009wsh.2	-	c.51C>A	c.(49-51)CCC>CCA	p.P17P	SH2D2A_uc001fqc.1_5'UTR|SH2D2A_uc001fqd.2_Silent_p.P17P|SH2D2A_uc001fqe.2_Intron|SH2D2A_uc010phs.1_Silent_p.P17P|NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 1	17					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									2				0.351648	91.279905	93.043062	32	59	KEEP	---	---	---	---	capture		Silent	SNP	156785870	156785870	14723	1	G	T	T	T	600	47	SH2D2A	2	2
KIRREL	55243	broad.mit.edu	37	1	158064669	158064669	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158064669C>G	uc001frn.3	+	c.2033C>G	c.(2032-2034)ACA>AGA	p.T678R	KIRREL_uc010pib.1_Missense_Mutation_p.T578R|KIRREL_uc009wsq.2_Missense_Mutation_p.T514R|KIRREL_uc001fro.3_Missense_Mutation_p.T492R	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	678	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)													0.271429	54.574794	57.892975	19	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158064669	158064669	8636	1	C	G	G	G	221	17	KIRREL	3	3
CD1A	909	broad.mit.edu	37	1	158225836	158225836	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158225836C>A	uc001frt.2	+	c.368C>A	c.(367-369)TCT>TAT	p.S123Y		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	123	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)	2	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)									0.199052	176.005169	211.540642	84	338	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158225836	158225836	3101	1	C	A	A	A	416	32	CD1A	2	2
FCER1A	2205	broad.mit.edu	37	1	159273776	159273776	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159273776G>T	uc001ftq.2	+	c.135G>T	c.(133-135)GAG>GAT	p.E45D		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	45	Extracellular (Potential).|Ig-like 1.					integral to plasma membrane					0	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)									0.416	145.268946	146.040747	52	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159273776	159273776	6011	1	G	T	T	T	425	33	FCER1A	2	2
FCGR3A	2214	broad.mit.edu	37	1	161514551	161514551	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161514551T>A	uc001gar.2	-	c.625A>T	c.(625-627)AGG>TGG	p.R209W	FCGR3A_uc001gas.2_Missense_Mutation_p.R208W|FCGR3A_uc001gat.3_Missense_Mutation_p.R173W|FCGR3A_uc009wuh.2_Missense_Mutation_p.R172W|FCGR3A_uc009wui.2_Missense_Mutation_p.R173W	NM_000569	NP_000560	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	173	Extracellular (Potential).|Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.157407	28.425558	40.511786	17	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161514551	161514551	6021	1	T	A	A	A	713	55	FCGR3A	3	3
FAM78B	149297	broad.mit.edu	37	1	166039812	166039812	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166039812G>A	uc001gdr.2	-	c.452C>T	c.(451-453)CCT>CTT	p.P151L	FAM78B_uc010plc.1_Non-coding_Transcript|FAM78B_uc001gdq.2_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	151										central_nervous_system(1)	1	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)													0.207792	360.847211	415.634794	144	549	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166039812	166039812	5853	1	G	A	A	A	455	35	FAM78B	2	2
FAM78B	149297	broad.mit.edu	37	1	166039814	166039814	+	Silent	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166039814C>G	uc001gdr.2	-	c.450G>C	c.(448-450)GTG>GTC	p.V150V	FAM78B_uc010plc.1_Non-coding_Transcript|FAM78B_uc001gdq.2_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	150										central_nervous_system(1)	1	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)													0.208889	362.018142	415.124434	141	534	KEEP	---	---	---	---	capture		Silent	SNP	166039814	166039814	5853	1	C	G	G	G	314	25	FAM78B	3	3
FAM78B	149297	broad.mit.edu	37	1	166135239	166135239	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166135239A>G	uc001gdr.2	-	c.247T>C	c.(247-249)TAC>CAC	p.Y83H	FAM78B_uc010plc.1_Non-coding_Transcript	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	83										central_nervous_system(1)	1	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)													0.188889	37.913009	46.021595	17	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166135239	166135239	5853	1	A	G	G	G	195	15	FAM78B	4	4
KIFAP3	22920	broad.mit.edu	37	1	169951180	169951180	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169951180C>A	uc001ggv.2	-	c.1731G>T	c.(1729-1731)ATG>ATT	p.M577I	KIFAP3_uc010plx.1_Missense_Mutation_p.M279I	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	577					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.442623	163.521432	163.873007	54	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169951180	169951180	8622	1	C	A	A	A	273	21	KIFAP3	2	2
PAPPA2	60676	broad.mit.edu	37	1	176564440	176564440	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176564440T>A	uc001gkz.2	+	c.1700T>A	c.(1699-1701)CTG>CAG	p.L567Q	PAPPA2_uc001gky.1_Missense_Mutation_p.L567Q|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	567	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.24375	90.528689	100.131524	39	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176564440	176564440	11850	1	T	A	A	A	715	55	PAPPA2	3	3
QSOX1	5768	broad.mit.edu	37	1	180144454	180144454	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180144454A>T	uc001gnz.2	+	c.367_splice	c.e3-2	p.F123_splice	QSOX1_uc001gny.2_Splice_Site_SNP_p.F123_splice|QSOX1_uc001goa.2_Splice_Site_SNP_p.F123_splice	NM_002826	NP_002817			quiescin Q6 sulfhydryl oxidase 1 isoform a						cell redox homeostasis|oxidation-reduction process|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2														0.2	92.076961	107.953466	38	152	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	180144454	180144454	13341	1	A	T	T	T	91	7	QSOX1	5	3
MR1	3140	broad.mit.edu	37	1	181024400	181024400	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181024400G>A	uc001goq.1	+	c.1025G>A	c.(1024-1026)TGA>TAA	p.*342*	MR1_uc001gor.1_Silent_p.*297*|MR1_uc001gos.1_Silent_p.*250*|MR1_uc010pns.1_Silent_p.*215*	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	342					antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						Colon(174;1412 1962 45296 46549 47110)								0.514793	533.833357	533.896799	174	164	KEEP	---	---	---	---	capture		Silent	SNP	181024400	181024400	10144	1	G	A	A	A	581	45	MR1	2	2
CACNA1E	777	broad.mit.edu	37	1	181767959	181767959	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181767959G>A	uc001gow.2	+	c.6802G>A	c.(6802-6804)GAC>AAC	p.D2268N	CACNA1E_uc009wxs.2_Missense_Mutation_p.D2156N|CACNA1E_uc009wxt.2_Missense_Mutation_p.D1537N	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2311	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														0.206897	13.333186	15.64269	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181767959	181767959	2658	1	G	A	A	A	585	45	CACNA1E	2	2
HMCN1	83872	broad.mit.edu	37	1	186114646	186114646	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186114646G>T	uc001grq.1	+	c.14378G>T	c.(14377-14379)GGA>GTA	p.G4793V	HMCN1_uc001grs.1_Missense_Mutation_p.G362V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4793	TSP type-1 5.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.212766	37.935237	45.117874	20	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186114646	186114646	7511	1	G	T	T	T	533	41	HMCN1	2	2
PRG4	10216	broad.mit.edu	37	1	186273331	186273331	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186273331C>A	uc001gru.3	+	c.411C>A	c.(409-411)CCC>CCA	p.P137P	PRG4_uc001grt.3_Silent_p.P96P|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	137					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity				0														0.504762	163.224847	163.226423	53	52	KEEP	---	---	---	---	capture		Silent	SNP	186273331	186273331	12924	1	C	A	A	A	262	21	PRG4	2	2
PAX7	5081	broad.mit.edu	37	1	19029763	19029763	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19029763C>T	uc001bay.2	+	c.1128C>T	c.(1126-1128)AAC>AAT	p.N376N	PAX7_uc001baz.2_Silent_p.N374N|PAX7_uc010oct.1_Silent_p.N376N	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	376					anti-apoptosis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity		PAX7/FOXO1(197)	soft_tissue(197)|ovary(1)|lung(1)	199		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)						129				0.07	-4.646272	14.43472	7	93	KEEP	---	---	---	---	capture		Silent	SNP	19029763	19029763	11904	1	C	T	T	T	233	18	PAX7	2	2
CRB1	23418	broad.mit.edu	37	1	197404183	197404183	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197404183A>T	uc001gtz.2	+	c.3190A>T	c.(3190-3192)AGC>TGC	p.S1064C	CRB1_uc010poz.1_Missense_Mutation_p.S1040C|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.S952C|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.S545C|CRB1_uc001gub.1_Missense_Mutation_p.S713C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1064	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.509091	268.701111	268.713057	84	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197404183	197404183	3987	1	A	T	T	T	91	7	CRB1	3	3
NR5A2	2494	broad.mit.edu	37	1	200017555	200017555	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200017555T>A	uc001gvb.2	+	c.719T>A	c.(718-720)TTT>TAT	p.F240Y	NR5A2_uc001gvc.2_Missense_Mutation_p.F194Y|NR5A2_uc009wzh.2_Missense_Mutation_p.F200Y|NR5A2_uc010pph.1_Missense_Mutation_p.F168Y	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	240					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)								0.199115	85.384905	104.415861	45	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200017555	200017555	11041	1	T	A	A	A	832	64	NR5A2	3	3
OPTC	26254	broad.mit.edu	37	1	203467929	203467929	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203467929G>T	uc001gzu.1	+	c.491G>T	c.(490-492)CGC>CTC	p.R164L		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	164	LRR 1.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)											0.111111	3.569248	7.550728	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203467929	203467929	11294	1	G	T	T	T	494	38	OPTC	1	1
MARK1	4139	broad.mit.edu	37	1	220752761	220752761	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220752761C>T	uc009xdw.2	+	c.117C>T	c.(115-117)AAC>AAT	p.N39N	MARK1_uc001hml.2_Silent_p.N39N|MARK1_uc001hmn.3_Silent_p.N39N|MARK1_uc010pun.1_Silent_p.N39N|MARK1_uc001hmm.3_Silent_p.N39N	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	39					intracellular protein kinase cascade|protein phosphorylation	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|central_nervous_system(2)|stomach(1)|lung(1)	7				GBM - Glioblastoma multiforme(131;0.0407)						258				0.29	72.67505	76.603866	29	71	KEEP	---	---	---	---	capture		Silent	SNP	220752761	220752761	9695	1	C	T	T	T	220	17	MARK1	2	2
LEFTY1	10637	broad.mit.edu	37	1	226108984	226108984	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226108984C>T	uc010pvj.1	-	c.499G>A	c.(499-501)GCC>ACC	p.A167T	PYCR2_uc001hpp.2_Missense_Mutation_p.A174T|PYCR2_uc001hpq.2_Missense_Mutation_p.A241T|PYCR2_uc001hpr.2_Missense_Mutation_p.A194T	P5CR2		O75610	LFTY1_HUMAN	SubName: Full=cDNA FLJ54750, moderately similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2);	Error:Variant_position_missing_in_O75610_after_alignment					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)													0.444444	57.190312	57.310988	20	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226108984	226108984	9039	1	C	T	T	T	351	27	LEFTY1	1	1
OBSCN	84033	broad.mit.edu	37	1	228529173	228529173	+	Silent	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228529173G>C	uc009xez.1	+	c.17892G>C	c.(17890-17892)GGG>GGC	p.G5964G	OBSCN_uc001hsn.2_Silent_p.G5964G|OBSCN_uc001hsr.1_Silent_p.G593G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5964	PH.				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				0.4	10.994446	11.08279	4	6	KEEP	---	---	---	---	capture		Silent	SNP	228529173	228529173	11217	1	G	C	C	C	548	43	OBSCN	3	3
RAB4A	5867	broad.mit.edu	37	1	229422233	229422233	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229422233A>T	uc001hth.2	+	c.32A>T	c.(31-33)GAT>GTT	p.D11V	RAB4A_uc001hti.2_Non-coding_Transcript|RAB4A_uc001htj.2_Intron	NM_004578	NP_004569	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	6							GDP binding|GTP binding|GTPase activity			ovary(1)	1	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				Esophageal Squamous(11;250 603 9619 16563)								0.488372	62.175956	62.180855	21	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229422233	229422233	13405	1	A	T	T	T	156	12	RAB4A	3	3
NUP133	55746	broad.mit.edu	37	1	229611466	229611466	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229611466G>A	uc001htn.2	-	c.1770C>T	c.(1768-1770)TTC>TTT	p.F590F		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	590					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|ovary(1)	5	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)								578				0.103627	17.04925	47.242335	20	173	KEEP	---	---	---	---	capture		Silent	SNP	229611466	229611466	11159	1	G	A	A	A	581	45	NUP133	2	2
RYR2	6262	broad.mit.edu	37	1	237774158	237774158	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237774158G>T	uc001hyl.1	+	c.4780G>T	c.(4780-4782)GTC>TTC	p.V1594F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1594	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.282609	74.318301	78.219673	26	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237774158	237774158	14249	1	G	T	T	T	520	40	RYR2	1	1
RYR2	6262	broad.mit.edu	37	1	237886536	237886536	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237886536G>T	uc001hyl.1	+	c.10663G>T	c.(10663-10665)GCA>TCA	p.A3555S	RYR2_uc010pxz.1_Missense_Mutation_p.A510S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3555					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.522727	508.466733	508.604193	161	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237886536	237886536	14249	1	G	T	T	T	442	34	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237951316	237951316	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237951316G>T	uc001hyl.1	+	c.13357G>T	c.(13357-13359)GCC>TCC	p.A4453S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4453	Glu-rich (acidic).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.528571	112.572992	112.622255	37	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237951316	237951316	14249	1	G	T	T	T	442	34	RYR2	2	2
HNRNPU	3192	broad.mit.edu	37	1	245019447	245019447	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245019447G>A	uc001iaz.1	-	c.1926C>T	c.(1924-1926)CTC>CTT	p.L642L	HNRNPU_uc001iaw.1_Non-coding_Transcript|HNRNPU_uc001iax.1_Non-coding_Transcript|HNRNPU_uc001iay.1_Silent_p.L366L|HNRNPU_uc001iba.1_Silent_p.L623L	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	642					cell killing|CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			NSCLC(33;911 1010 3329 23631 49995)								0.12963	48.682359	84.702701	35	235	KEEP	---	---	---	---	capture		Silent	SNP	245019447	245019447	7565	1	G	A	A	A	522	41	HNRNPU	2	2
AHCTF1	25909	broad.mit.edu	37	1	247076680	247076680	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247076680C>T	uc001ibv.1	-	c.437G>A	c.(436-438)GGA>GAA	p.G146E	AHCTF1_uc001ibu.1_Missense_Mutation_p.G137E	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	137	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			Colon(145;197 1800 4745 15099 26333)								0.06	-26.261473	44.549037	21	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247076680	247076680	411	1	C	T	T	T	390	30	AHCTF1	2	2
ZNF669	79862	broad.mit.edu	37	1	247264032	247264032	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247264032T>C	uc001ice.2	-	c.1039A>G	c.(1039-1041)ACT>GCT	p.T347A	ZNF669_uc001icf.2_Missense_Mutation_p.T261A	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	347	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)											0.646091	506.033202	510.614923	157	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247264032	247264032	18671	1	T	C	C	C	767	59	ZNF669	4	4
OR2T8	343172	broad.mit.edu	37	1	248085210	248085210	+	Silent	SNP	A	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248085210A>C	uc010pzc.1	+	c.891A>C	c.(889-891)GGA>GGC	p.G297G		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.2	300.175033	360.119265	143	572	KEEP	---	---	---	---	capture		Silent	SNP	248085210	248085210	11436	1	A	C	C	C	132	11	OR2T8	4	4
OR2T4	127074	broad.mit.edu	37	1	248525566	248525566	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248525566G>C	uc001ieh.1	+	c.684G>C	c.(682-684)GAG>GAC	p.E228D		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	228	Helical; Name=5; (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)											0.247387	437.87337	471.199131	142	432	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248525566	248525566	11433	1	G	C	C	C	425	33	OR2T4	3	3
TRIM63	84676	broad.mit.edu	37	1	26386766	26386766	+	Silent	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26386766T>A	uc001bli.1	-	c.588A>T	c.(586-588)CGA>CGT	p.R196R		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	196	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)										0.203252	56.404165	66.462865	25	98	KEEP	---	---	---	---	capture		Silent	SNP	26386766	26386766	17084	1	T	A	A	A	691	54	TRIM63	3	3
ZBTB8A	653121	broad.mit.edu	37	1	33059319	33059319	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33059319G>C	uc001bvn.2	+	c.787G>C	c.(787-789)GGT>CGT	p.G263R	ZBTB8A_uc001bvk.2_Non-coding_Transcript|ZBTB8A_uc001bvm.2_Missense_Mutation_p.G263R	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.473934	306.585278	306.709718	100	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33059319	33059319	18143	1	G	C	C	C	507	39	ZBTB8A	3	3
RBBP4	5928	broad.mit.edu	37	1	33135115	33135115	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33135115T>A	uc001bvr.2	+	c.917T>A	c.(916-918)CTG>CAG	p.L306Q	RBBP4_uc001bvs.2_Missense_Mutation_p.L305Q|RBBP4_uc010ohj.1_Missense_Mutation_p.L54Q|RBBP4_uc010ohk.1_Missense_Mutation_p.L271Q	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	306					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)												0.20436	184.616939	214.383683	75	292	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33135115	33135115	13562	1	T	A	A	A	715	55	RBBP4	3	3
EPHA10	284656	broad.mit.edu	37	1	38186072	38186072	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38186072C>A	uc009vvi.2	-	c.2363G>T	c.(2362-2364)GGC>GTC	p.G788V	EPHA10_uc001cbt.2_Non-coding_Transcript|EPHA10_uc009vvh.1_Non-coding_Transcript|EPHA10_uc001cbu.2_Non-coding_Transcript|EPHA10_uc001cbv.1_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	788	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.352941	12.619607	12.954482	6	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38186072	38186072	5359	1	C	A	A	A	338	26	EPHA10	2	2
EPHA10	284656	broad.mit.edu	37	1	38227077	38227077	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38227077C>A	uc009vvi.2	-	c.850G>T	c.(850-852)GCC>TCC	p.A284S	EPHA10_uc001cbw.3_Missense_Mutation_p.G284C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	284	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.494845	423.341496	423.348752	144	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38227077	38227077	5359	1	C	A	A	A	312	24	EPHA10	2	2
GLIS1	148979	broad.mit.edu	37	1	54060342	54060342	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:54060342G>A	uc001cvr.1	-	c.234C>T	c.(232-234)TCC>TCT	p.S78S		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	78					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|specific RNA polymerase II transcription factor activity|zinc ion binding				0														0.08	0.766877	9.757662	4	46	KEEP	---	---	---	---	capture		Silent	SNP	54060342	54060342	6713	1	G	A	A	A	444	35	GLIS1	2	2
DAB1	1600	broad.mit.edu	37	1	57480689	57480689	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57480689G>A	uc001cys.1	-	c.1311C>T	c.(1309-1311)ACC>ACT	p.T437T	DAB1_uc001cyt.1_Silent_p.T435T|DAB1_uc001cyq.1_Silent_p.T435T|DAB1_uc001cyr.1_Silent_p.T351T|DAB1_uc009vzw.1_Silent_p.T419T|DAB1_uc009vzx.1_Silent_p.T437T	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	470					cell differentiation|nervous system development					ovary(1)	1										395				0.532051	270.63412	270.766946	83	73	KEEP	---	---	---	---	capture		Silent	SNP	57480689	57480689	4383	1	G	A	A	A	444	35	DAB1	2	2
FOXD3	27022	broad.mit.edu	37	1	63789370	63789370	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:63789370A>G	uc001dax.2	+	c.641A>G	c.(640-642)TAC>TGC	p.Y214C		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	214	Fork-head.				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						Pancreas(68;276 1750 11966 31252)								0.47619	135.498345	135.539359	40	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63789370	63789370	6240	1	A	G	G	G	182	14	FOXD3	4	4
LRRC7	57554	broad.mit.edu	37	1	70488962	70488962	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70488962G>T	uc001dep.2	+	c.1585G>T	c.(1585-1587)GGT>TGT	p.G529C	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	529						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.235484	158.522954	178.302067	73	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70488962	70488962	9396	1	G	T	T	T	559	43	LRRC7	2	2
SLC44A5	204962	broad.mit.edu	37	1	75681541	75681541	+	Silent	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75681541A>T	uc010oqz.1	-	c.1743T>A	c.(1741-1743)CGT>CGA	p.R581R	SLC44A5_uc001dgt.2_Silent_p.R542R|SLC44A5_uc001dgs.2_Silent_p.R500R|SLC44A5_uc001dgr.2_Silent_p.R500R|SLC44A5_uc001dgu.2_Silent_p.R542R|SLC44A5_uc010ora.1_Silent_p.R536R|SLC44A5_uc010orb.1_Silent_p.R412R	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform B	542	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.199275	123.393733	146.599334	55	221	KEEP	---	---	---	---	capture		Silent	SNP	75681541	75681541	15136	1	A	T	T	T	171	14	SLC44A5	3	3
TTLL7	79739	broad.mit.edu	37	1	84387041	84387041	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84387041T>G	uc001djc.2	-	c.1179A>C	c.(1177-1179)AAA>AAC	p.K393N	TTLL7_uc001djb.2_Non-coding_Transcript|TTLL7_uc001djd.2_Non-coding_Transcript|TTLL7_uc001dje.2_Non-coding_Transcript|TTLL7_uc001djf.2_Non-coding_Transcript|TTLL7_uc001djg.2_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	393					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)										0.064912	-34.450436	78.654953	37	533	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84387041	84387041	17287	1	T	G	G	G	725	56	TTLL7	4	4
LPAR3	23566	broad.mit.edu	37	1	85331113	85331113	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85331113G>A	uc001dkl.2	-	c.691C>T	c.(691-693)CGG>TGG	p.R231W	LPAR3_uc009wcj.1_Missense_Mutation_p.R231W	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	231	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				ovary(2)	2														0.197802	35.825858	43.582559	18	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85331113	85331113	9279	1	G	A	A	A	506	39	LPAR3	1	1
COL24A1	255631	broad.mit.edu	37	1	86200557	86200557	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86200557T>A	uc001dlj.2	-	c.4873A>T	c.(4873-4875)ACC>TCC	p.T1625S	COL24A1_uc001dli.2_Missense_Mutation_p.T740S|COL24A1_uc010osd.1_Missense_Mutation_p.T925S|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1625	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.226293	274.281167	306.162493	105	359	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86200557	86200557	3821	1	T	A	A	A	767	59	COL24A1	3	3
CLCA2	9635	broad.mit.edu	37	1	86921163	86921163	+	Silent	SNP	A	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86921163A>C	uc001dlr.3	+	c.2785A>C	c.(2785-2787)AGG>CGG	p.R929R		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	929	Cytoplasmic (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.133166	59.42429	111.599257	53	345	KEEP	---	---	---	---	capture		Silent	SNP	86921163	86921163	3594	1	A	C	C	C	88	7	CLCA2	4	4
PKN2	5586	broad.mit.edu	37	1	89273071	89273071	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89273071G>T	uc001dmn.2	+	c.1879G>T	c.(1879-1881)GAT>TAT	p.D627Y	PKN2_uc010osp.1_Missense_Mutation_p.D611Y|PKN2_uc010osq.1_Missense_Mutation_p.D470Y|PKN2_uc009wcv.2_Missense_Mutation_p.D579Y|PKN2_uc010osr.1_Missense_Mutation_p.D292Y	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	627					protein phosphorylation|signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)						455				0.096552	9.787222	57.427377	28	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89273071	89273071	12405	1	G	T	T	T	585	45	PKN2	2	2
ZNF644	84146	broad.mit.edu	37	1	91382426	91382426	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91382426A>T	uc001dnw.2	-	c.3913T>A	c.(3913-3915)TCA>ACA	p.S1305T	ZNF644_uc001dnv.2_Missense_Mutation_p.S83T|ZNF644_uc001dnx.2_Missense_Mutation_p.S83T	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)										0.522088	379.837028	379.94307	130	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91382426	91382426	18655	1	A	T	T	T	130	10	ZNF644	3	3
ISG15	9636	broad.mit.edu	37	1	949541	949541	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:949541G>A	uc001acj.3	+	c.181G>A	c.(181-183)GCC>ACC	p.A61T		NM_005101	NP_005092	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier precursor	61	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)						58				0.538462	36.446188	36.47972	14	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	949541	949541	8157	1	G	A	A	A	598	46	ISG15	2	2
XKR7	343702	broad.mit.edu	37	20	30584429	30584429	+	Silent	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30584429G>C	uc002wxe.2	+	c.909G>C	c.(907-909)GTG>GTC	p.V303V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	303						integral to membrane				ovary(1)|breast(1)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.617647	72.978014	73.389992	21	13	KEEP	---	---	---	---	capture		Silent	SNP	30584429	30584429	18017	20	G	C	C	C	587	46	XKR7	3	3
CEP250	11190	broad.mit.edu	37	20	34061295	34061295	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34061295C>T	uc002xcm.2	+	c.1306C>T	c.(1306-1308)CGG>TGG	p.R436W	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	436	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)											0.146667	15.022531	23.987274	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34061295	34061295	3385	20	C	T	T	T	347	27	CEP250	1	1
RBL1	5933	broad.mit.edu	37	20	35668595	35668595	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35668595C>A	uc002xgi.2	-	c.1864G>T	c.(1864-1866)GTC>TTC	p.V622F	RBL1_uc010zvt.1_Non-coding_Transcript|RBL1_uc002xgj.1_Missense_Mutation_p.V622F	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	622	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.V622F(1)		lung(5)|ovary(2)	7		Myeloproliferative disorder(115;0.00878)								419				0.571429	365.383342	366.279857	116	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35668595	35668595	13570	20	C	A	A	A	260	20	RBL1	2	2
C20orf132	140699	broad.mit.edu	37	20	35796647	35796647	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35796647C>A	uc010zvu.1	-	c.556_splice	c.e7-1	p.G186_splice	C20orf132_uc002xgm.2_Splice_Site_SNP_p.G186_splice|C20orf132_uc002xgn.2_Splice_Site_SNP_p.G186_splice	NM_152503	NP_689716			hypothetical protein LOC140699 isoform 1												0		Myeloproliferative disorder(115;0.00878)												0.615385	25.301778	25.453181	8	5	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	35796647	35796647	2163	20	C	A	A	A	312	24	C20orf132	5	2
PTPRT	11122	broad.mit.edu	37	20	41101012	41101012	+	Silent	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:41101012G>C	uc010ggj.2	-	c.1344C>G	c.(1342-1344)ACC>ACG	p.T448T	PTPRT_uc002xkg.2_Silent_p.T448T	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	448	Extracellular (Potential).|Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.171429	81.340898	106.318698	42	203	KEEP	---	---	---	---	capture		Silent	SNP	41101012	41101012	13270	20	G	C	C	C	548	43	PTPRT	3	3
ZNF334	55713	broad.mit.edu	37	20	45130999	45130999	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45130999C>A	uc002xsc.2	-	c.979G>T	c.(979-981)GGA>TGA	p.G327*	ZNF334_uc002xsa.2_Nonsense_Mutation_p.G350*|ZNF334_uc002xsb.2_Nonsense_Mutation_p.G289*|ZNF334_uc002xsd.2_Nonsense_Mutation_p.G289*|ZNF334_uc010ghl.2_Nonsense_Mutation_p.G326*	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	327	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)												0.605809	467.987526	470.349551	146	95	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45130999	45130999	18443	20	C	A	A	A	273	21	ZNF334	5	2
SLC2A10	81031	broad.mit.edu	37	20	45354901	45354901	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45354901G>A	uc002xsl.2	+	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	409	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.64557	150.316768	151.786251	51	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45354901	45354901	15036	20	G	A	A	A	494	38	SLC2A10	1	1
ZNF217	7764	broad.mit.edu	37	20	52198122	52198122	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52198122C>A	uc002xwq.3	-	c.1244G>T	c.(1243-1245)AGG>ATG	p.R415M	ZNF217_uc010gij.1_Missense_Mutation_p.R407M	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	415					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				0.586957	79.926389	80.229564	27	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52198122	52198122	18363	20	C	A	A	A	312	24	ZNF217	2	2
BMP7	655	broad.mit.edu	37	20	55746030	55746030	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55746030G>T	uc010gip.1	-	c.1281C>A	c.(1279-1281)GCC>GCA	p.A427A	BMP7_uc010giq.1_Silent_p.A361A	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	427					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of gene-specific transcription|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity				0	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)											0.521739	35.307005	35.317164	12	11	KEEP	---	---	---	---	capture		Silent	SNP	55746030	55746030	1490	20	G	T	T	T	444	35	BMP7	2	2
VAPB	9217	broad.mit.edu	37	20	57015988	57015988	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57015988T>A	uc002xza.2	+	c.422T>A	c.(421-423)ATA>AAA	p.I141K	VAPB_uc002xzb.2_Non-coding_Transcript|VAPB_uc010zzo.1_Missense_Mutation_p.I18K|VAPB_uc002xzc.2_Intron	NM_004738	NP_004729	O95292	VAPB_HUMAN	VAMP-associated protein B/C	141	Cytoplasmic (Potential).				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|plasma membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(1)	1	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)											0.208333	22.327982	26.107806	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57015988	57015988	17687	20	T	A	A	A	637	49	VAPB	3	3
N6AMT1	29104	broad.mit.edu	37	21	30248748	30248748	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30248748C>A	uc002ymo.1	-	c.604G>T	c.(604-606)GGC>TGC	p.G202C	N6AMT1_uc002ymp.1_Missense_Mutation_p.G174C|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1	202					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity				0														0.309859	119.747953	124.321521	44	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30248748	30248748	10509	21	C	A	A	A	312	24	N6AMT1	2	2
SETD4	54093	broad.mit.edu	37	21	37410517	37410517	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37410517C>T	uc002yuw.1	-	c.1119G>A	c.(1117-1119)AAG>AAA	p.K373K	SETD4_uc002yux.1_Silent_p.K349K|SETD4_uc002yuu.2_Non-coding_Transcript|SETD4_uc002yuv.2_Silent_p.K373K	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	373				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						large_intestine(1)|ovary(1)	2														0.30916	226.618971	235.157974	81	181	KEEP	---	---	---	---	capture		Silent	SNP	37410517	37410517	14622	21	C	T	T	T	415	32	SETD4	2	2
PRDM15	63977	broad.mit.edu	37	21	43222973	43222974	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43222973_43222974CC>AA	uc002yzq.1	-	c.3939_3940GG>TT	c.(3937-3942)CCGGTG>CCTTTG	p.V1314L	PRDM15_uc002yzo.2_Missense_Mutation_p.V985L|PRDM15_uc002yzp.2_Missense_Mutation_p.V1005L|PRDM15_uc002yzr.1_Missense_Mutation_p.V1005L	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.167421	76.09914	99.215846	37	184	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	43222973	43222974	12898	21	CC	AA	AA	AA	234	18	PRDM15	2	2
RSPH1	89765	broad.mit.edu	37	21	43912951	43912952	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43912951_43912952CC>AT	uc002zbg.2	-	c.190_191GG>AT	c.(190-192)GGT>ATT	p.G64I		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	64	MORN 2.				meiosis	cytosol|nucleus				ovary(1)	1						Esophageal Squamous(23;63 706 6286 10288 12913)								0.259414	159.77786	172.282451	62	177	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	43912951	43912952	14182	21	CC	AT	AT	AT	234	18	RSPH1	2	2
KRTAP10-4	386672	broad.mit.edu	37	21	45994767	45994767	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45994767C>A	uc002zfk.1	+	c.1132C>A	c.(1132-1134)CCT>ACT	p.P378T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	378	36 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.304965	106.169819	110.956812	43	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45994767	45994767	8826	21	C	A	A	A	286	22	KRTAP10-4	2	2
SUMO3	6612	broad.mit.edu	37	21	46226925	46226925	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46226925C>A	uc011afi.1	-	c.367G>T	c.(367-369)GTG>TTG	p.V123L	SUMO3_uc002zfz.1_Missense_Mutation_p.V85L|SUMO3_uc002zga.1_Silent_p.T101T	NM_006936	NP_008867	P55854	SUMO3_HUMAN	small ubiquitin-like modifier protein 3	85	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding				0				Colorectal(79;0.058)										0.243902	54.979947	59.866413	20	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46226925	46226925	15909	21	C	A	A	A	247	19	SUMO3	1	1
POTEH	23784	broad.mit.edu	37	22	16287387	16287387	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:16287387C>G	uc010gqp.2	-	c.499G>C	c.(499-501)GAG>CAG	p.E167Q	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.E2Q	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	167											0														0.185484	59.980227	71.455124	23	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16287387	16287387	12697	22	C	G	G	G	390	30	POTEH	3	3
MICAL3	57553	broad.mit.edu	37	22	18301379	18301379	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18301379C>T	uc002zng.3	-	c.4048G>A	c.(4048-4050)GAG>AAG	p.E1350K	MICAL3_uc011agl.1_Missense_Mutation_p.E1266K|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1350	Pro-rich.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)										0.293578	80.149468	84.313471	32	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18301379	18301379	9961	22	C	T	T	T	403	31	MICAL3	1	1
ZC3H7B	23264	broad.mit.edu	37	22	41735076	41735076	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41735076G>T	uc003azw.2	+	c.697G>T	c.(697-699)GTT>TTT	p.V233F	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	249					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1														0.221053	148.568564	168.924717	63	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41735076	41735076	18161	22	G	T	T	T	520	40	ZC3H7B	1	1
MOV10L1	54456	broad.mit.edu	37	22	50598186	50598186	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50598186A>T	uc003bjj.2	+	c.3296A>T	c.(3295-3297)CAA>CTA	p.Q1099L	MOV10L1_uc003bjk.3_Missense_Mutation_p.Q1099L|MOV10L1_uc011arp.1_Missense_Mutation_p.Q1079L|MOV10L1_uc003bjl.2_Missense_Mutation_p.Q226L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	1099					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)										0.402778	83.75637	84.352217	29	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50598186	50598186	10111	22	A	T	T	T	65	5	MOV10L1	3	3
TGFBRAP1	9392	broad.mit.edu	37	2	105897158	105897158	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:105897158C>A	uc002tcq.2	-	c.1144G>T	c.(1144-1146)GAG>TAG	p.E382*	TGFBRAP1_uc010fjc.2_Nonsense_Mutation_p.E152*|TGFBRAP1_uc002tcr.3_Nonsense_Mutation_p.E382*	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	382					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						Esophageal Squamous(183;794 2019 9730 21801 48859)								0.428571	69.503079	69.785166	27	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	105897158	105897158	16352	2	C	A	A	A	390	30	TGFBRAP1	5	2
CLASP1	23332	broad.mit.edu	37	2	122217592	122217592	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:122217592C>T	uc002tnc.2	-	c.1142G>A	c.(1141-1143)CGG>CAG	p.R381Q	CLASP1_uc002tna.2_5'Flank|CLASP1_uc010yyw.1_Non-coding_Transcript|CLASP1_uc002tnb.2_Non-coding_Transcript|CLASP1_uc010yyx.1_Non-coding_Transcript|CLASP1_uc010yyy.1_Non-coding_Transcript|CLASP1_uc010yyz.1_Missense_Mutation_p.R381Q|CLASP1_uc010yza.1_Missense_Mutation_p.R381Q|CLASP1_uc010yzb.1_Non-coding_Transcript|CLASP1_uc010yzc.1_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.R381Q	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	381					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)													0.201439	62.433607	73.942935	28	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122217592	122217592	3590	2	C	T	T	T	299	23	CLASP1	1	1
CNTNAP5	129684	broad.mit.edu	37	2	125547512	125547512	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125547512G>A	uc010flu.2	+	c.2786G>A	c.(2785-2787)GGA>GAA	p.G929E	CNTNAP5_uc002tno.2_Missense_Mutation_p.G928E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	928	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.057377	-33.006624	42.231717	21	345	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125547512	125547512	3788	2	G	A	A	A	533	41	CNTNAP5	2	2
POTEF	728378	broad.mit.edu	37	2	130869654	130869654	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130869654T>A	uc010fmh.2	-	c.831A>T	c.(829-831)TTA>TTT	p.L277F		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	277	ANK 4.					cell cortex	ATP binding			ovary(2)|skin(1)	3														0.636364	183.819836	185.260211	56	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130869654	130869654	12695	2	T	A	A	A	738	57	POTEF	3	3
CCDC115	84317	broad.mit.edu	37	2	131099692	131099692	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131099692C>T	uc002tqy.1	-	c.7G>A	c.(7-9)GCG>ACG	p.A3T	CCDC115_uc002tqw.1_Missense_Mutation_p.A3T|CCDC115_uc010zaf.1_Intron|CCDC115_uc002tqx.2_Intron|CCDC115_uc002tqz.1_Missense_Mutation_p.A3T|IMP4_uc002tra.1_5'Flank	NM_032357	NP_115733	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	3						endosome|lysosome					0	Colorectal(110;0.1)													0.346939	47.572707	48.580188	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131099692	131099692	2872	2	C	T	T	T	338	26	CCDC115	2	2
FAM123C	205147	broad.mit.edu	37	2	131520302	131520302	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131520302C>A	uc002trw.2	+	c.657C>A	c.(655-657)GAC>GAA	p.D219E	FAM123C_uc010fmv.2_Missense_Mutation_p.D219E|FAM123C_uc010fms.1_Missense_Mutation_p.D219E|FAM123C_uc010fmt.1_Missense_Mutation_p.D219E|FAM123C_uc010fmu.1_Missense_Mutation_p.D219E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	219										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)										0.421687	106.406125	106.85114	35	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131520302	131520302	5621	2	C	A	A	A	220	17	FAM123C	2	2
NCKAP5	344148	broad.mit.edu	37	2	133541460	133541460	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133541460T>C	uc002ttp.2	-	c.2924A>G	c.(2923-2925)AAA>AGA	p.K975R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	975							protein binding				0														0.089109	4.078444	21.394009	9	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133541460	133541460	10622	2	T	C	C	C	832	64	NCKAP5	4	4
LCT	3938	broad.mit.edu	37	2	136564838	136564838	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136564838G>T	uc002tuu.1	-	c.4033C>A	c.(4033-4035)CCT>ACT	p.P1345T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1345	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.381944	149.801741	151.556333	55	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136564838	136564838	9017	2	G	T	T	T	546	42	LCT	2	2
LCT	3938	broad.mit.edu	37	2	136566553	136566553	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136566553G>T	uc002tuu.1	-	c.3364C>A	c.(3364-3366)CTG>ATG	p.L1122M		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1122	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.260274	90.886821	98.482274	38	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136566553	136566553	9017	2	G	T	T	T	438	34	LCT	2	2
LRP1B	53353	broad.mit.edu	37	2	141214071	141214071	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141214071G>T	uc002tvj.1	-	c.9916C>A	c.(9916-9918)CTG>ATG	p.L3306M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3306	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)			0.204918	50.596126	60.463076	25	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141214071	141214071	9328	2	G	T	T	T	425	33	LRP1B	2	2
ZEB2	9839	broad.mit.edu	37	2	145157428	145157428	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145157428C>T	uc002tvu.2	-	c.1326G>A	c.(1324-1326)GGG>GGA	p.G442G	ZEB2_uc002tvv.2_Silent_p.G436G|ZEB2_uc010zbm.1_Silent_p.G413G|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.G471G	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	442	SMAD-MH2 binding domain (By similarity).				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.440789	200.866101	201.317646	67	85	KEEP	---	---	---	---	capture		Silent	SNP	145157428	145157428	18212	2	C	T	T	T	379	30	ZEB2	2	2
FMNL2	114793	broad.mit.edu	37	2	153475439	153475439	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:153475439A>G	uc002tye.2	+	c.1394A>G	c.(1393-1395)CAG>CGG	p.Q465R	FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	465	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3														0.247475	113.471422	124.970982	49	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153475439	153475439	6194	2	A	G	G	G	91	7	FMNL2	4	4
GALNT13	114805	broad.mit.edu	37	2	155265578	155265578	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155265578G>T	uc002tyt.3	+	c.1379G>T	c.(1378-1380)GGT>GTT	p.G460V	GALNT13_uc002tyr.3_Missense_Mutation_p.G460V|GALNT13_uc010foc.1_Missense_Mutation_p.G279V|GALNT13_uc010fod.2_Missense_Mutation_p.G213V	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	460	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)	5														0.363636	181.352088	184.051943	60	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155265578	155265578	6475	2	G	T	T	T	572	44	GALNT13	2	2
KCNJ3	3760	broad.mit.edu	37	2	155555929	155555929	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155555929G>T	uc002tyv.1	+	c.642G>T	c.(640-642)CGG>CGT	p.R214R	KCNJ3_uc010zce.1_Silent_p.R214R	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	214	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.16	11.173382	16.688262	8	42	KEEP	---	---	---	---	capture		Silent	SNP	155555929	155555929	8357	2	G	T	T	T	548	43	KCNJ3	2	2
DDX1	1653	broad.mit.edu	37	2	15744597	15744597	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15744597G>A	uc002rce.2	+	c.589G>A	c.(589-591)GAT>AAT	p.D197N	DDX1_uc010yjq.1_Missense_Mutation_p.D105N	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	197	B30.2/SPRY.|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				0.156398	60.406679	84.13004	33	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15744597	15744597	4512	2	G	A	A	A	533	41	DDX1	2	2
PLA2R1	22925	broad.mit.edu	37	2	160840536	160840536	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160840536C>T	uc002ube.1	-	c.2086G>A	c.(2086-2088)GAA>AAA	p.E696K	PLA2R1_uc010zcp.1_Missense_Mutation_p.E696K|PLA2R1_uc002ubf.2_Missense_Mutation_p.E696K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	696	Extracellular (Potential).|C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)	1														0.234043	53.099269	59.185704	22	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160840536	160840536	12436	2	C	T	T	T	377	29	PLA2R1	2	2
SCN2A	6326	broad.mit.edu	37	2	166187921	166187921	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166187921C>A	uc002udc.2	+	c.2231C>A	c.(2230-2232)CCA>CAA	p.P744Q	SCN2A_uc002udd.2_Missense_Mutation_p.P744Q|SCN2A_uc002ude.2_Missense_Mutation_p.P744Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	744	II.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.148387	41.251799	59.619665	23	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166187921	166187921	14398	2	C	A	A	A	273	21	SCN2A	2	2
DHRS9	10170	broad.mit.edu	37	2	169952148	169952148	+	Silent	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169952148T>A	uc010zdc.1	+	c.1011T>A	c.(1009-1011)CCT>CCA	p.P337P	DHRS9_uc002uep.2_Silent_p.P277P|DHRS9_uc002ueq.2_Silent_p.P277P|DHRS9_uc010zdd.1_Silent_p.P277P|DHRS9_uc010zde.1_Silent_p.P277P	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	277					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|oxidation-reduction process|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0														0.183716	176.304769	221.324272	88	391	KEEP	---	---	---	---	capture		Silent	SNP	169952148	169952148	4677	2	T	A	A	A	678	53	DHRS9	3	3
LRP2	4036	broad.mit.edu	37	2	170044753	170044753	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170044753C>A	uc002ues.2	-	c.9055G>T	c.(9055-9057)GGT>TGT	p.G3019C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3019	LDL-receptor class A 23.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.221591	90.316344	102.886322	39	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170044753	170044753	9329	2	C	A	A	A	273	21	LRP2	2	2
MYO3B	140469	broad.mit.edu	37	2	171056660	171056660	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171056660G>T	uc002ufy.2	+	c.187G>T	c.(187-189)GAT>TAT	p.D63Y	MYO3B_uc002ufv.2_Missense_Mutation_p.D50Y|MYO3B_uc010fqb.1_Missense_Mutation_p.D50Y|MYO3B_uc002ufz.2_Missense_Mutation_p.D63Y|MYO3B_uc002ufw.2_Non-coding_Transcript|MYO3B_uc002ufx.2_Non-coding_Transcript|MYO3B_uc002uga.2_Missense_Mutation_p.D50Y	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	63	Protein kinase.				protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.D63Y(1)		lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16										1118				0.416667	156.493743	157.295768	55	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171056660	171056660	10472	2	G	T	T	T	533	41	MYO3B	2	2
TTN	7273	broad.mit.edu	37	2	179664346	179664346	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179664346G>T	uc010zfg.1	-	c.782C>A	c.(781-783)CCA>CAA	p.P261Q	TTN_uc010zfh.1_Missense_Mutation_p.P261Q|TTN_uc010zfi.1_Missense_Mutation_p.P261Q|TTN_uc010zfj.1_Missense_Mutation_p.P261Q|TTN_uc002unb.2_Missense_Mutation_p.P261Q|TTN_uc002und.2_Missense_Mutation_p.P261Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	261										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.280374	78.513764	83.148256	30	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179664346	179664346	17290	2	G	T	T	T	611	47	TTN	2	2
ITGA4	3676	broad.mit.edu	37	2	182344885	182344885	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182344885C>A	uc002unu.2	+	c.646C>A	c.(646-648)CCA>ACA	p.P216T	ITGA4_uc010zfl.1_Missense_Mutation_p.P216T	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	216	FG-GAP 3.|Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)									0.128205	14.512158	25.004659	10	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182344885	182344885	8182	2	C	A	A	A	286	22	ITGA4	2	2
ZNF804A	91752	broad.mit.edu	37	2	185801235	185801235	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185801235C>A	uc002uph.2	+	c.1112C>A	c.(1111-1113)TCT>TAT	p.S371Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	371						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.510067	218.776861	218.789762	76	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185801235	185801235	18768	2	C	A	A	A	416	32	ZNF804A	2	2
NRP2	8828	broad.mit.edu	37	2	206614562	206614562	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206614562G>T	uc002vaw.2	+	c.1900G>T	c.(1900-1902)GAT>TAT	p.D634Y	NRP2_uc002vau.2_Missense_Mutation_p.D634Y|NRP2_uc002vav.2_Missense_Mutation_p.D634Y|NRP2_uc002vax.2_Missense_Mutation_p.D634Y|NRP2_uc002vay.2_Missense_Mutation_p.D634Y	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	634	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.373134	66.650365	67.599926	25	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206614562	206614562	11066	2	G	T	T	T	533	41	NRP2	2	2
ADAM23	8745	broad.mit.edu	37	2	207310091	207310091	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207310091C>A	uc002vbq.2	+	c.275C>A	c.(274-276)ACA>AAA	p.T92K	ADAM23_uc010ziv.1_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	92					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		Melanoma(194;1127 2130 19620 24042 27855)								0.246637	143.008789	156.079529	55	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207310091	207310091	246	2	C	A	A	A	221	17	ADAM23	2	2
CRYGC	1420	broad.mit.edu	37	2	208993028	208993028	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208993028G>A	uc002vco.3	-	c.424C>T	c.(424-426)CGG>TGG	p.R142W		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	142	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)										0.450292	212.788826	213.148109	77	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	208993028	208993028	4055	2	G	A	A	A	493	38	CRYGC	1	1
ERBB4	2066	broad.mit.edu	37	2	212251660	212251660	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212251660G>T	uc002veg.1	-	c.3399C>A	c.(3397-3399)ACC>ACA	p.T1133T	ERBB4_uc002veh.1_Silent_p.T1117T|ERBB4_uc010zji.1_Silent_p.T1123T|ERBB4_uc010zjj.1_Silent_p.T1107T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1133	Cytoplasmic (Potential).				cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(12)|large_intestine(1)|breast(1)	14		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)						777	TSP Lung(8;0.080)			0.213836	85.011892	97.001392	34	125	KEEP	---	---	---	---	capture		Silent	SNP	212251660	212251660	5402	2	G	T	T	T	496	39	ERBB4	1	1
APOB	338	broad.mit.edu	37	2	21232755	21232755	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21232755C>A	uc002red.2	-	c.6985G>T	c.(6985-6987)GAA>TAA	p.E2329*		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2329					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.330595	437.883114	450.282487	161	326	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21232755	21232755	796	2	C	A	A	A	377	29	APOB	5	2
XRCC5	7520	broad.mit.edu	37	2	217006040	217006040	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217006040C>T	uc002vfy.2	+	c.1474C>T	c.(1474-1476)CAG>TAG	p.Q492*	XRCC5_uc002vfz.2_Nonsense_Mutation_p.Q378*	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	492	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|telomeric DNA binding			kidney(1)	1		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)										0.106897	20.495762	65.017019	31	259	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	217006040	217006040	18039	2	C	T	T	T	377	29	XRCC5	5	2
FAM134A	79137	broad.mit.edu	37	2	220045408	220045408	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220045408G>T	uc002vjw.3	+	c.572G>T	c.(571-573)TGC>TTC	p.C191F	C2orf24_uc002vjv.2_5'Flank|FAM134A_uc010fwc.2_5'UTR|FAM134A_uc002vjx.2_5'UTR	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	191						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.196126	181.221957	216.778833	81	332	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220045408	220045408	5642	2	G	T	T	T	598	46	FAM134A	2	2
ATG9A	79065	broad.mit.edu	37	2	220089069	220089069	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220089069G>A	uc002vke.1	-	c.1024C>T	c.(1024-1026)CAC>TAC	p.H342Y	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.H342Y	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	342	Lumenal (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.309524	36.058413	37.416691	13	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220089069	220089069	1121	2	G	A	A	A	611	47	ATG9A	2	2
DOCK10	55619	broad.mit.edu	37	2	225658116	225658116	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225658116C>A	uc010fwz.1	-	c.5212_splice	c.e46+1	p.G1738_splice	DOCK10_uc002vob.2_Splice_Site_SNP_p.G1732_splice|DOCK10_uc002voa.2_Splice_Site_SNP_p.G394_splice|DOCK10_uc002voc.2_Splice_Site_SNP_p.G592_splice	NM_014689	NP_055504			dedicator of cytokinesis 10								GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.48	157.658184	157.688445	48	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	225658116	225658116	4869	2	C	A	A	A	234	18	DOCK10	5	2
UGT1A9	54600	broad.mit.edu	37	2	234581133	234581133	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234581133G>T	uc002vus.2	+	c.553G>T	c.(553-555)GCT>TCT	p.A185S	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.A185S	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	185					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|retinoic acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)	4		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)									0.141608	127.785362	198.578393	81	491	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234581133	234581133	17510	2	G	T	T	T	598	46	UGT1A9	2	2
COL6A3	1293	broad.mit.edu	37	2	238275930	238275930	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238275930C>A	uc002vwl.2	-	c.4901_splice	c.e11-1	p.E1634_splice	COL6A3_uc002vwo.2_Splice_Site_SNP_p.E1428_splice|COL6A3_uc010znj.1_Splice_Site_SNP_p.E1027_splice	NM_004369	NP_004360			alpha 3 type VI collagen isoform 1 precursor						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.23913	75.694985	84.387753	33	105	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	238275930	238275930	3839	2	C	A	A	A	416	32	COL6A3	5	2
KIF3C	3797	broad.mit.edu	37	2	26203619	26203619	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26203619G>T	uc002rgu.2	-	c.1168C>A	c.(1168-1170)CTG>ATG	p.L390M	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.L390M	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	390	Potential.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.376471	176.641398	178.885932	64	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26203619	26203619	8613	2	G	T	T	T	451	35	KIF3C	2	2
GPR113	165082	broad.mit.edu	37	2	26535815	26535815	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26535815A>T	uc002rhe.3	-	c.1649T>A	c.(1648-1650)CTG>CAG	p.L550Q	GPR113_uc010yky.1_Missense_Mutation_p.L481Q|GPR113_uc002rhb.1_Missense_Mutation_p.L153Q|GPR113_uc010eyk.1_Missense_Mutation_p.L351Q|GPR113_uc002rhc.1_Missense_Mutation_p.L153Q|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	550	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.384615	29.746083	30.048587	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26535815	26535815	6904	2	A	T	T	T	91	7	GPR113	3	3
YPEL5	51646	broad.mit.edu	37	2	30379545	30379546	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:30379545_30379546GG>TT	uc002rna.3	+	c.28_29GG>TT	c.(28-30)GGT>TTT	p.G10F	YPEL5_uc002rnb.3_Missense_Mutation_p.G10F|YPEL5_uc002rnc.3_Missense_Mutation_p.G10F|YPEL5_uc002rmz.3_Missense_Mutation_p.G10F|YPEL5_uc010ezn.2_Intron|YPEL5_uc002rnd.2_Missense_Mutation_p.G10F	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN	yippee-like 5	10					oxidation-reduction process		peptide-methionine-(S)-S-oxide reductase activity				0	Acute lymphoblastic leukemia(172;0.155)													0.241379	266.476732	291.161977	98	308	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	30379545	30379546	18076	2	GG	TT	TT	TT	507	39	YPEL5	1	1
EHD3	30845	broad.mit.edu	37	2	31489433	31489433	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31489433G>A	uc002rnu.2	+	c.1471G>A	c.(1471-1473)GAC>AAC	p.D491N	EHD3_uc010ymt.1_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	491	EH.|EF-hand.|By similarity.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.176136	55.213161	72.624609	31	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31489433	31489433	5168	2	G	A	A	A	585	45	EHD3	2	2
SLC8A1	6546	broad.mit.edu	37	2	40342702	40342702	+	Silent	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40342702C>G	uc002rrx.2	-	c.2613G>C	c.(2611-2613)ACG>ACC	p.T871T	SLC8A1_uc002rry.2_Silent_p.T866T|SLC8A1_uc002rrz.2_Silent_p.T858T|SLC8A1_uc002rsa.2_Silent_p.T835T|SLC8A1_uc002rsd.3_Silent_p.T835T	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	871	Extracellular (Potential).|Alpha-2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.257353	83.257912	90.522019	35	101	KEEP	---	---	---	---	capture		Silent	SNP	40342702	40342702	15203	2	C	G	G	G	288	23	SLC8A1	3	3
SLC8A1	6546	broad.mit.edu	37	2	40657408	40657408	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40657408G>T	uc002rrx.2	-	c.13C>A	c.(13-15)CGG>AGG	p.R5R	SLC8A1_uc002rry.2_Silent_p.R5R|SLC8A1_uc002rrz.2_Silent_p.R5R|SLC8A1_uc002rsa.2_Silent_p.R5R|SLC8A1_uc002rsd.3_Silent_p.R5R|SLC8A1_uc002rsb.1_Silent_p.R5R|SLC8A1_uc010fan.1_Silent_p.R5R|SLC8A1_uc002rsc.1_Silent_p.R5R	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	5					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.24	75.795379	83.502873	30	95	KEEP	---	---	---	---	capture		Silent	SNP	40657408	40657408	15203	2	G	T	T	T	493	38	SLC8A1	1	1
SFXN5	94097	broad.mit.edu	37	2	73188361	73188361	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73188361C>A	uc002siq.2	-	c.844G>T	c.(844-846)GCA>TCA	p.A282S	SFXN5_uc002sio.2_Missense_Mutation_p.A174S|SFXN5_uc010yrc.1_Missense_Mutation_p.A131S|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Missense_Mutation_p.R214S|SFXN5_uc010fer.2_Intron|SFXN5_uc010feq.2_Missense_Mutation_p.A64S|SFXN5_uc010fes.2_Missense_Mutation_p.A64S	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	282					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1														0.290323	22.764375	23.984611	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73188361	73188361	14689	2	C	A	A	A	338	26	SFXN5	2	2
CTNNA2	1496	broad.mit.edu	37	2	80773089	80773089	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80773089A>T	uc010ysh.1	+	c.1441A>T	c.(1441-1443)AAC>TAC	p.N481Y	CTNNA2_uc010yse.1_Missense_Mutation_p.N481Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.N481Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.N481Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.N113Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	481					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.415929	134.629619	135.319526	47	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80773089	80773089	4172	2	A	T	T	T	169	13	CTNNA2	3	3
CTNNA2	1496	broad.mit.edu	37	2	80782886	80782886	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80782886G>T	uc010ysh.1	+	c.1609G>T	c.(1609-1611)GAC>TAC	p.D537Y	CTNNA2_uc010yse.1_Missense_Mutation_p.D537Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D537Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D537Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D169Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	537					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.403315	191.119913	192.602548	73	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80782886	80782886	4172	2	G	T	T	T	533	41	CTNNA2	2	2
NCAPH	23397	broad.mit.edu	37	2	97007830	97007830	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97007830G>T	uc002svz.1	+	c.315G>T	c.(313-315)ACG>ACT	p.T105T	NCAPH_uc010fhu.1_Silent_p.T81T|NCAPH_uc010fhv.1_Silent_p.T94T|NCAPH_uc010yum.1_Silent_p.T81T|NCAPH_uc010fhw.1_Silent_p.T94T|NCAPH_uc010yun.1_5'UTR|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	105					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)	1		Ovarian(717;0.0221)												0.266667	64.367183	68.788771	24	66	KEEP	---	---	---	---	capture		Silent	SNP	97007830	97007830	10608	2	G	T	T	T	483	38	NCAPH	1	1
CEP97	79598	broad.mit.edu	37	3	101484051	101484051	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101484051A>G	uc003dvk.1	+	c.2254A>G	c.(2254-2256)AGT>GGT	p.S752G	CEP97_uc011bhf.1_Missense_Mutation_p.S693G|CEP97_uc003dvl.1_Missense_Mutation_p.S474G|CEP97_uc003dvm.1_Missense_Mutation_p.S590G	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	752						centrosome|nucleus	protein binding			ovary(2)	2														0.242291	165.058965	178.773222	55	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101484051	101484051	3396	3	A	G	G	G	195	15	CEP97	4	4
CD200R1L	344807	broad.mit.edu	37	3	112538721	112538721	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112538721G>T	uc003dzi.1	-	c.701C>A	c.(700-702)CCA>CAA	p.P234Q	CD200R1L_uc011bhw.1_Missense_Mutation_p.P213Q|CD200R1L_uc010hqf.1_Missense_Mutation_p.P213Q	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	234	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1														0.412698	160.974619	161.814002	52	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112538721	112538721	3109	3	G	T	T	T	611	47	CD200R1L	2	2
ZNF80	7634	broad.mit.edu	37	3	113955337	113955337	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113955337C>T	uc010hqo.2	-	c.585G>A	c.(583-585)GGG>GGA	p.G195G	ZNF80_uc003ebf.2_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	195	C2H2-type 6.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GBM(23;986 1114 21716)								0.352941	180.612624	184.169907	66	121	KEEP	---	---	---	---	capture		Silent	SNP	113955337	113955337	18766	3	C	T	T	T	379	30	ZNF80	2	2
CNTN6	27255	broad.mit.edu	37	3	1189723	1189723	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:1189723C>A	uc003boz.2	+	c.31C>A	c.(31-33)CTG>ATG	p.L11M	CNTN6_uc010hbo.2_De_novo_Start_OutOfFrame|CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_Missense_Mutation_p.L11M	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	11					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				lung(2)|breast(2)|pancreas(1)	5		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)						1038				0.052326	-17.698952	18.673273	9	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1189723	1189723	3783	3	C	A	A	A	363	28	CNTN6	2	2
MYLK	4638	broad.mit.edu	37	3	123385993	123385993	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123385993G>T	uc003ego.2	-	c.3694C>A	c.(3694-3696)CCG>ACG	p.P1232T	MYLK_uc010hrr.2_5'Flank|MYLK_uc011bjv.1_Missense_Mutation_p.P32T|MYLK_uc011bjw.1_Missense_Mutation_p.P1232T|MYLK_uc003egp.2_Missense_Mutation_p.P1163T|MYLK_uc003egq.2_Missense_Mutation_p.P1232T|MYLK_uc003egr.2_Missense_Mutation_p.P1163T|MYLK_uc003egs.2_Missense_Mutation_p.P1056T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1232	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)						766				0.197917	113.482832	137.908242	57	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123385993	123385993	10451	3	G	T	T	T	533	41	MYLK	2	2
PPARG	5468	broad.mit.edu	37	3	12422846	12422846	+	Silent	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12422846T>A	uc003bwx.2	+	c.336T>A	c.(334-336)TCT>TCA	p.S112S	PPARG_uc003bwr.2_Silent_p.S84S|PPARG_uc003bws.2_Silent_p.S84S|PPARG_uc003bwu.2_Silent_p.S84S|PPARG_uc003bwv.2_Silent_p.S84S|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwq.1_Silent_p.S84S|PPARG_uc003bwt.1_Silent_p.S84S|PPARG_uc003bww.1_Silent_p.S112S	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	112					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|placenta development|positive regulation of fat cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of blood pressure|regulation of cholesterol transporter activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|promoter binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|steroid hormone receptor activity|transcription activator activity|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)					191				0.645161	63.706678	64.281795	20	11	KEEP	---	---	---	---	capture		Silent	SNP	12422846	12422846	12729	3	T	A	A	A	691	54	PPARG	3	3
ZNF148	7707	broad.mit.edu	37	3	124953081	124953081	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124953081G>C	uc003ehx.3	-	c.760C>G	c.(760-762)CCT>GCT	p.P254A	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.P254A|ZNF148_uc010hsa.2_Missense_Mutation_p.P254A|ZNF148_uc003eia.3_Missense_Mutation_p.P254A|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	254					cellular defense response|negative regulation of transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|specific RNA polymerase II transcription factor activity|transcription repressor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.493976	289.262147	289.267055	82	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124953081	124953081	18325	3	G	C	C	C	572	44	ZNF148	3	3
RHO	6010	broad.mit.edu	37	3	129251465	129251465	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129251465G>T	uc003emt.2	+	c.786G>T	c.(784-786)CTG>CTT	p.L262L		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	262	Helical; Name=6; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	Esophageal Squamous(118;214 1623 30842 43234 46940)								0.204819	37.525046	44.237321	17	66	KEEP	---	---	---	---	capture		Silent	SNP	129251465	129251465	13805	3	G	T	T	T	574	45	RHO	2	2
COL6A6	131873	broad.mit.edu	37	3	130284367	130284367	+	Silent	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130284367T>C	uc010htl.2	+	c.1191T>C	c.(1189-1191)GCT>GCC	p.A397A		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	397	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.196429	21.494856	26.304936	11	45	KEEP	---	---	---	---	capture		Silent	SNP	130284367	130284367	3841	3	T	C	C	C	704	55	COL6A6	4	4
SLC9A9	285195	broad.mit.edu	37	3	143551051	143551051	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:143551051C>G	uc003evn.2	-	c.188G>C	c.(187-189)GGA>GCA	p.G63A	SLC9A9_uc011bnk.1_Intron	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	63	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)	2														0.391304	177.960541	179.33991	54	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143551051	143551051	15218	3	C	G	G	G	390	30	SLC9A9	3	3
MME	4311	broad.mit.edu	37	3	154834707	154834707	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154834707G>T	uc010hvr.1	+	c.586G>T	c.(586-588)GGG>TGG	p.G196W	MME_uc003fab.1_Missense_Mutation_p.G196W|MME_uc003fac.1_Missense_Mutation_p.G196W|MME_uc003fad.1_Missense_Mutation_p.G196W|MME_uc003fae.1_Missense_Mutation_p.G196W	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	196	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)									0.152174	49.301781	70.773444	28	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154834707	154834707	10035	3	G	T	T	T	611	47	MME	2	2
MME	4311	broad.mit.edu	37	3	154858048	154858048	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154858048C>A	uc010hvr.1	+	c.924C>A	c.(922-924)ATC>ATA	p.I308I	MME_uc003fab.1_Silent_p.I308I|MME_uc003fac.1_Silent_p.I308I|MME_uc003fad.1_Silent_p.I308I|MME_uc003fae.1_Silent_p.I308I	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	308	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)									0.181818	40.103388	51.596161	22	99	KEEP	---	---	---	---	capture		Silent	SNP	154858048	154858048	10035	3	C	A	A	A	382	30	MME	2	2
PPM1L	151742	broad.mit.edu	37	3	160783243	160783243	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160783243C>T	uc003fdr.2	+	c.627C>T	c.(625-627)AAC>AAT	p.N209N	PPM1L_uc003fds.2_Silent_p.N30N|PPM1L_uc003fdt.2_Silent_p.N82N|PPM1L_uc010hwf.2_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	209	Cytoplasmic (Potential).|PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			Pancreas(86;250 1994 13715 43211)								0.214854	187.934581	216.185954	81	296	KEEP	---	---	---	---	capture		Silent	SNP	160783243	160783243	12779	3	C	T	T	T	246	19	PPM1L	1	1
SI	6476	broad.mit.edu	37	3	164700791	164700791	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164700791T>A	uc003fei.2	-	c.5246A>T	c.(5245-5247)CAG>CTG	p.Q1749L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1749	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)									0.516129	52.100711	52.107714	16	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164700791	164700791	14792	3	T	A	A	A	715	55	SI	3	3
SLITRK3	22865	broad.mit.edu	37	3	164907949	164907949	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164907949G>T	uc003fej.3	-	c.670C>A	c.(670-672)CTG>ATG	p.L224M	SLITRK3_uc003fek.2_Missense_Mutation_p.L224M	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	224	Extracellular (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.355102	246.793266	251.309461	87	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164907949	164907949	15242	3	G	T	T	T	451	35	SLITRK3	2	2
SPATA16	83893	broad.mit.edu	37	3	172643148	172643148	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172643148G>A	uc003fin.3	-	c.1216C>T	c.(1216-1218)CCG>TCG	p.P406S		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	406					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)											0.241758	49.933489	55.451403	22	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172643148	172643148	15509	3	G	A	A	A	546	42	SPATA16	2	2
HTR3D	200909	broad.mit.edu	37	3	183754201	183754201	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183754201C>T	uc011bqv.1	+	c.419C>T	c.(418-420)TCA>TTA	p.S140L	HTR3D_uc003fmj.2_Missense_Mutation_p.S5L|HTR3D_uc011bqu.1_Missense_Mutation_p.S79L|HTR3D_uc010hxp.2_Intron	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	140	Extracellular (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.452632	119.910456	120.096002	43	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183754201	183754201	7747	3	C	T	T	T	377	29	HTR3D	2	2
RTP2	344892	broad.mit.edu	37	3	187416470	187416470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:187416470C>T	uc003fro.1	-	c.494G>A	c.(493-495)TGG>TAG	p.W165*		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	165	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)										0.151316	36.214828	53.932388	23	129	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	187416470	187416470	14214	3	C	T	T	T	273	21	RTP2	5	2
GP5	2814	broad.mit.edu	37	3	194117584	194117584	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194117584C>T	uc003ftv.1	-	c.1428G>A	c.(1426-1428)CGG>CGA	p.R476R		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	476	Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(1)	1	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)										0.481013	113.944052	113.968798	38	41	KEEP	---	---	---	---	capture		Silent	SNP	194117584	194117584	6857	3	C	T	T	T	275	22	GP5	2	2
MUC4	4585	broad.mit.edu	37	3	195516952	195516952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195516952C>T	uc011bto.1	-	c.1499G>A	c.(1498-1500)TGG>TAG	p.W500*	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Nonsense_Mutation_p.W382*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	505					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)										0.185185	19.118146	24.138483	10	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	195516952	195516952	10372	3	C	T	T	T	273	21	MUC4	5	2
TNK2	10188	broad.mit.edu	37	3	195594873	195594873	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195594873G>C	uc003fvt.1	-	c.2485C>G	c.(2485-2487)CGC>GGC	p.R829G	TNK2_uc003fvq.1_Missense_Mutation_p.R158G|TNK2_uc003fvr.1_Missense_Mutation_p.R276G|TNK2_uc003fvs.1_Missense_Mutation_p.R783G|TNK2_uc003fvu.1_Missense_Mutation_p.R751G|TNK2_uc010hzw.1_Non-coding_Transcript	NM_001010938	NP_001010938	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 2	751	Pro-rich.|EBD domain (By similarity).			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R750G(1)		ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)					288				0.307692	12.595969	13.024055	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	195594873	195594873	16859	3	G	C	C	C	494	38	TNK2	3	3
MFI2	4241	broad.mit.edu	37	3	196743162	196743162	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196743162C>T	uc003fxk.3	-	c.979G>A	c.(979-981)GAC>AAC	p.D327N		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	327	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)										0.166667	37.892543	51.172434	21	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196743162	196743162	9912	3	C	T	T	T	416	32	MFI2	2	2
CNTN4	152330	broad.mit.edu	37	3	3095550	3095550	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3095550G>T	uc003bpc.2	+	c.2871G>T	c.(2869-2871)TCG>TCT	p.S957S	CNTN4_uc003bpe.2_Silent_p.S629S|CNTN4_uc003bpf.2_Silent_p.S628S|CNTN4_uc003bpg.2_Silent_p.S213S	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	957	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.536082	166.512571	166.626362	52	45	KEEP	---	---	---	---	capture		Silent	SNP	3095550	3095550	3781	3	G	T	T	T	496	39	CNTN4	1	1
CHL1	10752	broad.mit.edu	37	3	369898	369898	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:369898G>T	uc003bot.2	+	c.246G>T	c.(244-246)CGG>CGT	p.R82R	CHL1_uc003bou.2_Silent_p.R82R|CHL1_uc003bow.1_Silent_p.R82R|CHL1_uc011asi.1_Silent_p.R82R	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	82	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)						659				0.59919	446.515352	448.635924	148	99	KEEP	---	---	---	---	capture		Silent	SNP	369898	369898	3483	3	G	T	T	T	522	41	CHL1	2	2
DLEC1	9940	broad.mit.edu	37	3	38126915	38126915	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38126915G>T	uc003chp.1	+	c.1412G>T	c.(1411-1413)CGG>CTG	p.R471L	DLEC1_uc003cho.1_Missense_Mutation_p.R471L|DLEC1_uc010hgv.1_Missense_Mutation_p.R471L|DLEC1_uc010hgw.1_Intron|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	471					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|breast(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)										0.465116	61.793061	61.838784	20	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38126915	38126915	4732	3	G	T	T	T	507	39	DLEC1	1	1
SCN10A	6336	broad.mit.edu	37	3	38768368	38768368	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38768368G>A	uc003ciq.2	-	c.2816C>T	c.(2815-2817)CCC>CTC	p.P939L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	939					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.03125	-52.356344	16.921695	9	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38768368	38768368	14394	3	G	A	A	A	559	43	SCN10A	2	2
SCN10A	6336	broad.mit.edu	37	3	38768370	38768370	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38768370G>A	uc003ciq.2	-	c.2814C>T	c.(2812-2814)TTC>TTT	p.F938F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	938					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.031142	-55.067835	14.548922	9	280	KEEP	---	---	---	---	capture		Silent	SNP	38768370	38768370	14394	3	G	A	A	A	529	41	SCN10A	2	2
XIRP1	165904	broad.mit.edu	37	3	39229781	39229781	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39229781C>T	uc003cjk.1	-	c.1156G>A	c.(1156-1158)GAA>AAA	p.E386K	XIRP1_uc003cji.2_Missense_Mutation_p.E386K|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	386	Xin 9.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)										0.032911	-72.819493	21.229885	13	382	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39229781	39229781	18010	3	C	T	T	T	377	29	XIRP1	2	2
IQCF1	132141	broad.mit.edu	37	3	51937288	51937288	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51937288T>A	uc003dbv.2	-	c.1A>T	c.(1-3)ATG>TTG	p.M1L	IQCF1_uc003dbq.3_Non-coding_Transcript	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	1										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)										0.540323	221.638262	221.81437	67	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51937288	51937288	8108	3	T	A	A	A	676	52	IQCF1	3	3
DNAH1	25981	broad.mit.edu	37	3	52422303	52422303	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52422303G>T	uc011bef.1	+	c.9124G>T	c.(9124-9126)GCC>TCC	p.A3042S	DNAH1_uc003ddv.2_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3042	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.444444	12.098831	12.123031	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52422303	52422303	4779	3	G	T	T	T	494	38	DNAH1	1	1
ARL6IP5	10550	broad.mit.edu	37	3	69150988	69150988	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69150988A>T	uc003dnr.2	+	c.177_splice	c.e2-2	p.G59_splice		NM_006407	NP_006398			ADP-ribosylation-like factor 6 interacting						L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)										0.205128	20.794143	23.927362	8	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	69150988	69150988	962	3	A	T	T	T	91	7	ARL6IP5	5	3
EPHA3	2042	broad.mit.edu	37	3	89499497	89499497	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89499497G>T	uc003dqy.2	+	c.2667G>T	c.(2665-2667)AAG>AAT	p.K889N	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	889	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding	p.K889K(1)		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)			0.162393	27.950093	40.650073	19	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89499497	89499497	5361	3	G	T	T	T	425	33	EPHA3	2	2
LHFPL4	375323	broad.mit.edu	37	3	9547772	9547772	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9547772G>T	uc003bry.2	-	c.522C>A	c.(520-522)CGC>CGA	p.R174R		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	174						integral to membrane				ovary(2)	2	Medulloblastoma(99;0.227)													0.542714	325.192874	325.509057	108	91	KEEP	---	---	---	---	capture		Silent	SNP	9547772	9547772	9093	3	G	T	T	T	431	34	LHFPL4	2	2
EPHA6	285220	broad.mit.edu	37	3	97202786	97202786	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97202786C>A	uc010how.1	+	c.2083C>A	c.(2083-2085)CCG>ACG	p.P695T	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.P61T|EPHA6_uc003drs.3_Missense_Mutation_p.P87T|EPHA6_uc003drr.3_Missense_Mutation_p.P87T|EPHA6_uc003drt.2_Missense_Mutation_p.P87T|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	600	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.283784	55.543014	58.650172	21	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97202786	97202786	5364	3	C	A	A	A	286	22	EPHA6	2	2
MTTP	4547	broad.mit.edu	37	4	100532536	100532536	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100532536G>T	uc011cej.1	+	c.1996G>T	c.(1996-1998)GGT>TGT	p.G666C	MTTP_uc003hvc.3_Missense_Mutation_p.G639C	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	639	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)									0.214797	204.816033	236.217512	90	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100532536	100532536	10357	4	G	T	T	T	559	43	MTTP	2	2
SLC39A8	64116	broad.mit.edu	37	4	103189107	103189107	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103189107C>A	uc003hwb.1	-	c.970G>T	c.(970-972)GCT>TCT	p.A324S	SLC39A8_uc011ceo.1_Missense_Mutation_p.A324S|SLC39A8_uc003hwa.1_Missense_Mutation_p.A257S|SLC39A8_uc003hwc.2_Missense_Mutation_p.A324S	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	324	Cytoplasmic (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)										0.274809	89.981978	95.881257	36	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103189107	103189107	15121	4	C	A	A	A	338	26	SLC39A8	2	2
NHEDC1	150159	broad.mit.edu	37	4	103822408	103822408	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103822408C>A	uc003hww.2	-	c.1414G>T	c.(1414-1416)GTA>TTA	p.V472L	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.V245L	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	472	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)										0.033149	-96.650597	32.522271	18	525	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103822408	103822408	10800	4	C	A	A	A	260	20	NHEDC1	2	2
CXXC4	80319	broad.mit.edu	37	4	105412248	105412248	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:105412248C>T	uc003hxg.2	-	c.205G>A	c.(205-207)GCT>ACT	p.A69T	CXXC4_uc010ilo.2_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	CXXC finger 4	69					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)										0.219697	60.128092	69.666702	29	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105412248	105412248	4258	4	C	T	T	T	351	27	CXXC4	1	1
TET2	54790	broad.mit.edu	37	4	106155526	106155526	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106155526G>A	uc011cez.1	+	c.490G>A	c.(490-492)GAT>AAT	p.D164N	TET2_uc003hxk.2_Missense_Mutation_p.D143N|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc010ilp.1_Missense_Mutation_p.D143N|TET2_uc003hxi.1_Missense_Mutation_p.D143N	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	143					cell cycle|myeloid cell differentiation|oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(668)|pancreas(1)	669		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)					p.D143N(NCIH1944-Tumor)	111				0.272109	101.825214	108.716247	40	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106155526	106155526	16297	4	G	A	A	A	481	37	TET2	1	1
AIMP1	9255	broad.mit.edu	37	4	107246266	107246266	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:107246266G>C	uc003hyh.2	+	c.172G>C	c.(172-174)GAG>CAG	p.E58Q	AIMP1_uc011cfg.1_Missense_Mutation_p.E34Q|AIMP1_uc003hyg.2_Missense_Mutation_p.E34Q	NM_001142416	NP_001135888	Q12904	AIMP1_HUMAN	small inducible cytokine subfamily E, member 1	34	Required for fibroblast proliferation.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding				0														0.141304	28.413842	39.830054	13	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107246266	107246266	436	4	G	C	C	C	533	41	AIMP1	3	3
ANK2	287	broad.mit.edu	37	4	114277466	114277466	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114277466G>A	uc003ibe.3	+	c.7692G>A	c.(7690-7692)GTG>GTA	p.V2564V	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Silent_p.V2579V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2531					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.03	-75.667976	21.351182	12	388	KEEP	---	---	---	---	capture		Silent	SNP	114277466	114277466	624	4	G	A	A	A	574	45	ANK2	2	2
PRDM5	11107	broad.mit.edu	37	4	121675709	121675709	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:121675709C>A	uc003idn.2	-	c.1622G>T	c.(1621-1623)AGG>ATG	p.R541M	PRDM5_uc003ido.2_Missense_Mutation_p.R510M|PRDM5_uc010ine.2_Intron	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	541					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	promoter binding|repressing transcription factor binding|specific transcriptional repressor activity|zinc ion binding			central_nervous_system(1)|pancreas(1)	2														0.169355	43.396385	56.22821	21	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121675709	121675709	12902	4	C	A	A	A	312	24	PRDM5	2	2
PCDH18	54510	broad.mit.edu	37	4	138442481	138442481	+	Missense_Mutation	SNP	C	G	G	rs111581489		TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138442481C>G	uc003ihe.3	-	c.3110G>C	c.(3109-3111)CGC>CCC	p.R1037P	PCDH18_uc003ihf.3_Missense_Mutation_p.R1029P|PCDH18_uc011cgz.1_Missense_Mutation_p.R248P|PCDH18_uc003ihg.3_Missense_Mutation_p.R816P|PCDH18_uc011cha.1_Missense_Mutation_p.R217P	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1037	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.411111	115.355164	115.976735	37	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138442481	138442481	11933	4	C	G	G	G	351	27	PCDH18	3	3
POU4F2	5458	broad.mit.edu	37	4	147561868	147561868	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147561868G>A	uc003ikv.2	+	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	380	Homeobox.				negative regulation of transcription from RNA polymerase II promoter	nuclear speck	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(1)	1	all_hematologic(180;0.151)													0.227053	111.712656	125.871497	47	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147561868	147561868	12709	4	G	A	A	A	533	41	POU4F2	2	2
RBM46	166863	broad.mit.edu	37	4	155720407	155720407	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155720407G>T	uc003ioo.2	+	c.1093G>T	c.(1093-1095)GTT>TTT	p.V365F	RBM46_uc011cim.1_Missense_Mutation_p.V365F|RBM46_uc003iop.1_Missense_Mutation_p.V365F	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	365							nucleotide binding|RNA binding			central_nervous_system(1)	1	all_hematologic(180;0.24)	Renal(120;0.0854)												0.162698	76.70458	103.969985	41	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155720407	155720407	13602	4	G	T	T	T	468	36	RBM46	2	2
FSTL5	56884	broad.mit.edu	37	4	162307254	162307254	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162307254G>T	uc003iqh.2	-	c.2189C>A	c.(2188-2190)GCT>GAT	p.A730D	FSTL5_uc003iqi.2_Missense_Mutation_p.A729D|FSTL5_uc010iqv.2_Missense_Mutation_p.A720D	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	730						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.473684	130.406802	130.467612	45	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162307254	162307254	6331	4	G	T	T	T	442	34	FSTL5	2	2
GALNTL6	442117	broad.mit.edu	37	4	173269703	173269703	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:173269703T>A	uc003isv.2	+	c.416T>A	c.(415-417)CTG>CAG	p.L139Q		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	139	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.517647	429.271222	429.338951	132	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173269703	173269703	6489	4	T	A	A	A	715	55	GALNTL6	3	3
GLRA3	8001	broad.mit.edu	37	4	175710011	175710011	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:175710011C>A	uc003ity.1	-	c.155G>T	c.(154-156)GGC>GTC	p.G52V	GLRA3_uc003itz.1_Missense_Mutation_p.G52V	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	52	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)									0.178378	62.585055	80.584907	33	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175710011	175710011	6724	4	C	A	A	A	338	26	GLRA3	2	2
GPM6A	2823	broad.mit.edu	37	4	176594958	176594958	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:176594958C>T	uc003iuf.2	-	c.260G>A	c.(259-261)GGC>GAC	p.G87D	GPM6A_uc011ckj.1_Missense_Mutation_p.G80D|GPM6A_uc003iug.2_Missense_Mutation_p.G87D|GPM6A_uc003iuh.2_Missense_Mutation_p.G76D	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	87	Helical; (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)										0.551282	130.188752	130.363269	43	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176594958	176594958	6889	4	C	T	T	T	338	26	GPM6A	2	2
HELT	391723	broad.mit.edu	37	4	185941733	185941733	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:185941733C>A	uc011ckq.1	+	c.791C>A	c.(790-792)CCG>CAG	p.P264Q	HELT_uc011cko.1_Missense_Mutation_p.P179Q|HELT_uc003ixa.3_Missense_Mutation_p.P178Q|HELT_uc011ckp.1_Missense_Mutation_p.P122Q	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	264	Pro-rich.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)										0.166667	6.486864	9.015006	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185941733	185941733	7331	4	C	A	A	A	299	23	HELT	1	1
FRYL	285527	broad.mit.edu	37	4	48549688	48549688	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48549688C>A	uc003gyh.1	-	c.4987G>T	c.(4987-4989)GCT>TCT	p.A1663S	FRYL_uc003gyg.1_Missense_Mutation_p.A359S|FRYL_uc003gyi.1_Missense_Mutation_p.A552S|FRYL_uc003gyj.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1663					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.531646	132.948088	133.016686	42	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48549688	48549688	6314	4	C	A	A	A	325	25	FRYL	2	2
FRYL	285527	broad.mit.edu	37	4	48566015	48566015	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48566015C>A	uc003gyh.1	-	c.3546G>T	c.(3544-3546)GGG>GGT	p.G1182G	FRYL_uc003gyk.2_Silent_p.G1182G|FRYL_uc003gyi.1_Silent_p.G71G	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1182					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.542373	93.308322	93.402062	32	27	KEEP	---	---	---	---	capture		Silent	SNP	48566015	48566015	6314	4	C	A	A	A	379	30	FRYL	2	2
KIT	3815	broad.mit.edu	37	4	55564616	55564616	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55564616G>T	uc010igr.2	+	c.504G>T	c.(502-504)GCG>GCT	p.A168A	KIT_uc010igs.2_Silent_p.A168A	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	168	Extracellular (Potential).|Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3041)|haematopoietic_and_lymphoid_tissue(1544)|skin(98)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(10)|lung(6)|thymus(5)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	4855	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			1		431				0.413043	120.752909	121.354746	38	54	KEEP	---	---	---	---	capture		Silent	SNP	55564616	55564616	8641	4	G	T	T	T	496	39	KIT	1	1
KIAA1211	57482	broad.mit.edu	37	4	57181702	57181702	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57181702C>T	uc003hbk.2	+	c.2034C>T	c.(2032-2034)AAC>AAT	p.N678N	KIAA1211_uc010iha.2_Silent_p.N671N|KIAA1211_uc011bzz.1_Silent_p.N588N|KIAA1211_uc003hbm.1_Silent_p.N564N	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	678										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.034965	-74.273971	26.558965	15	414	KEEP	---	---	---	---	capture		Silent	SNP	57181702	57181702	8523	4	C	T	T	T	246	19	KIAA1211	1	1
KIAA1211	57482	broad.mit.edu	37	4	57189711	57189711	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57189711C>A	uc003hbk.2	+	c.3356C>A	c.(3355-3357)GCA>GAA	p.A1119E	KIAA1211_uc010iha.2_Missense_Mutation_p.A1112E	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1119										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.191489	19.24482	23.426646	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57189711	57189711	8523	4	C	A	A	A	325	25	KIAA1211	2	2
PPAT	5471	broad.mit.edu	37	4	57272855	57272855	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57272855C>A	uc003hbr.2	-	c.208G>T	c.(208-210)GTA>TTA	p.V70L		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	70	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)									0.166667	21.849913	29.440415	12	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57272855	57272855	12732	4	C	A	A	A	221	17	PPAT	2	2
JAKMIP1	152789	broad.mit.edu	37	4	6083476	6083476	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6083476G>C	uc010idb.1	-	c.961C>G	c.(961-963)CGC>GGC	p.R321G	JAKMIP1_uc010idc.1_Missense_Mutation_p.R156G|JAKMIP1_uc010idd.1_Missense_Mutation_p.R321G|JAKMIP1_uc003giu.3_Missense_Mutation_p.R321G|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R156G|JAKMIP1_uc003giv.3_Missense_Mutation_p.R321G|JAKMIP1_uc010ide.2_Missense_Mutation_p.R321G	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	321	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|ovary(1)|pancreas(1)	3														0.576	261.141719	261.779518	72	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6083476	6083476	8244	4	G	C	C	C	520	40	JAKMIP1	3	3
UGT2A3	79799	broad.mit.edu	37	4	69811051	69811051	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69811051G>C	uc003hef.2	-	c.837C>G	c.(835-837)CAC>CAG	p.H279Q	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	279	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)	1														0.195489	61.378788	73.016893	26	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69811051	69811051	17513	4	G	C	C	C	464	36	UGT2A3	3	3
ENAM	10117	broad.mit.edu	37	4	71508496	71508496	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71508496A>G	uc011caw.1	+	c.1353A>G	c.(1351-1353)ACA>ACG	p.T451T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	451					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)											0.375	133.849798	135.611526	48	80	KEEP	---	---	---	---	capture		Silent	SNP	71508496	71508496	5305	4	A	G	G	G	54	5	ENAM	4	4
ENAM	10117	broad.mit.edu	37	4	71509106	71509106	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71509106G>T	uc011caw.1	+	c.1963G>T	c.(1963-1965)GAC>TAC	p.D655Y		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	655					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)											0.243176	218.129726	242.399194	98	305	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71509106	71509106	5305	4	G	T	T	T	533	41	ENAM	2	2
ADAMTS3	9508	broad.mit.edu	37	4	73176824	73176824	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73176824C>T	uc003hgk.1	-	c.1996G>A	c.(1996-1998)GAT>AAT	p.D666N	ADAMTS3_uc003hgl.2_Missense_Mutation_p.D7N	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	666	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			NSCLC(168;1941 2048 2918 13048 43078)								0.247588	176.635942	194.663631	77	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73176824	73176824	268	4	C	T	T	T	377	29	ADAMTS3	2	2
COX18	285521	broad.mit.edu	37	4	73930566	73930566	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73930566C>A	uc011cbc.1	-	c.652G>T	c.(652-654)GAC>TAC	p.D218Y	COX18_uc003hgm.1_Missense_Mutation_p.D217Y|COX18_uc003hgn.1_Missense_Mutation_p.D66Y|COX18_uc010iih.1_Missense_Mutation_p.D217Y	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	mitochondrial COX18 precursor	217					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity				0	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											0.33945	102.244217	104.726829	37	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73930566	73930566	3905	4	C	A	A	A	377	29	COX18	2	2
FRAS1	80144	broad.mit.edu	37	4	79360078	79360078	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79360078G>T	uc003hlb.2	+	c.5389G>T	c.(5389-5391)GAT>TAT	p.D1797Y	FRAS1_uc003hkw.2_Missense_Mutation_p.D1797Y|FRAS1_uc010ijj.1_Missense_Mutation_p.D217Y	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1796	CSPG 6.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.221622	94.860724	108.068362	41	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79360078	79360078	6288	4	G	T	T	T	585	45	FRAS1	2	2
SEC31A	22872	broad.mit.edu	37	4	83788320	83788320	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:83788320T>A	uc003hnf.2	-	c.1032A>T	c.(1030-1032)AAA>AAT	p.K344N	SEC31A_uc003hne.2_Missense_Mutation_p.K116N|SEC31A_uc011ccl.1_Missense_Mutation_p.K344N|SEC31A_uc003hnl.2_Missense_Mutation_p.K344N|SEC31A_uc003hng.2_Missense_Mutation_p.K344N|SEC31A_uc003hnh.2_Missense_Mutation_p.K344N|SEC31A_uc003hni.2_Missense_Mutation_p.K344N|SEC31A_uc003hnj.2_Missense_Mutation_p.K344N|SEC31A_uc011ccm.1_Missense_Mutation_p.K339N|SEC31A_uc011ccn.1_Missense_Mutation_p.K344N|SEC31A_uc003hnk.2_Missense_Mutation_p.K344N|SEC31A_uc003hnm.2_Missense_Mutation_p.K344N|SEC31A_uc003hnn.1_Missense_Mutation_p.K344N|SEC31A_uc003hno.2_Missense_Mutation_p.K344N	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	344	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)												0.228261	103.363412	115.821865	42	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83788320	83788320	14484	4	T	A	A	A	777	60	SEC31A	3	3
MEPE	56955	broad.mit.edu	37	4	88766209	88766209	+	Silent	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88766209T>C	uc003hqy.2	+	c.189T>C	c.(187-189)AAT>AAC	p.N63N	MEPE_uc010ikn.2_5'UTR	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	63					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)										0.537572	343.199195	343.405287	93	80	KEEP	---	---	---	---	capture		Silent	SNP	88766209	88766209	9867	4	T	C	C	C	634	49	MEPE	4	4
SMARCAD1	56916	broad.mit.edu	37	4	95204271	95204271	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:95204271G>T	uc003htb.3	+	c.2733_splice	c.e22-1	p.R911_splice	SMARCAD1_uc003htc.3_Splice_Site_SNP_p.R909_splice|SMARCAD1_uc003htd.3_Splice_Site_SNP_p.R911_splice|SMARCAD1_uc010ila.2_Splice_Site_SNP_p.R774_splice|SMARCAD1_uc011cdw.1_Splice_Site_SNP_p.R479_splice	NM_001128430	NP_001121902			SWI/SNF-related, matrix-associated						chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)										0.510638	73.49644	73.500946	24	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	95204271	95204271	15270	4	G	T	T	T	455	35	SMARCAD1	5	2
TSSK1B	83942	broad.mit.edu	37	5	112769636	112769636	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112769636C>A	uc003kqm.2	-	c.901G>T	c.(901-903)GAA>TAA	p.E301*	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	301					cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(1)	3		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)						32				0.393443	70.490474	71.095125	24	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	112769636	112769636	17221	5	C	A	A	A	403	31	TSSK1B	5	1
PCDHAC2	56134	broad.mit.edu	37	5	140346736	140346736	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140346736G>T	uc003lii.2	+	c.385G>T	c.(385-387)GTG>TTG	p.V129L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.V129L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	129	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(190;638 2083 3390 11909 52360)								0.608696	92.006614	92.482588	28	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140346736	140346736	11953	5	G	T	T	T	520	40	PCDHAC2	1	1
PCDHAC2	56134	broad.mit.edu	37	5	140389308	140389308	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140389308G>A	uc003lii.2	+	c.2810G>A	c.(2809-2811)GGT>GAT	p.G937D	PCDHA1_uc003lha.2_Missense_Mutation_p.G616D|PCDHA1_uc003lhb.2_Missense_Mutation_p.G880D|PCDHA2_uc003lhd.2_Missense_Mutation_p.G878D|PCDHA3_uc003lhf.2_Missense_Mutation_p.G880D|PCDHA4_uc003lhi.2_Missense_Mutation_p.G877D|PCDHA4_uc003lhh.1_Missense_Mutation_p.G877D|PCDHA5_uc003lhk.1_Missense_Mutation_p.G866D|PCDHA5_uc003lhl.2_Missense_Mutation_p.G866D|PCDHA6_uc003lhn.2_Missense_Mutation_p.G616D|PCDHA6_uc003lho.2_Missense_Mutation_p.G880D|PCDHA7_uc003lhq.2_Missense_Mutation_p.G867D|PCDHA8_uc003lhs.2_Missense_Mutation_p.G880D|PCDHA9_uc003lhu.2_Missense_Mutation_p.G880D|PCDHA10_uc003lhw.2_Missense_Mutation_p.G615D|PCDHA10_uc003lhx.2_Missense_Mutation_p.G878D|PCDHA11_uc003lia.2_Missense_Mutation_p.G879D|PCDHA12_uc003lic.2_Missense_Mutation_p.G871D|PCDHA13_uc003lie.1_Missense_Mutation_p.G880D|PCDHA13_uc003lif.2_Missense_Mutation_p.G880D|PCDHAC1_uc003lih.2_Missense_Mutation_p.G893D	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	937	4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(190;638 2083 3390 11909 52360)								0.603239	461.385485	463.68588	149	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140389308	140389308	11953	5	G	A	A	A	572	44	PCDHAC2	2	2
PCDHB16	57717	broad.mit.edu	37	5	140562614	140562614	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140562614G>T	uc003liv.2	+	c.480G>T	c.(478-480)TTG>TTT	p.L160F	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	160	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.6875	145.116642	147.117335	44	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140562614	140562614	11961	5	G	T	T	T	607	47	PCDHB16	2	2
PCDHGB2	56103	broad.mit.edu	37	5	140740127	140740127	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140740127T>G	uc003ljs.1	+	c.425T>G	c.(424-426)ATT>AGT	p.I142S	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_uc011dar.1_Missense_Mutation_p.I142S	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	142	Extracellular (Potential).|Cadherin 2.				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)											0.575	166.562164	166.939984	46	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140740127	140740127	11983	5	T	G	G	G	676	52	PCDHGB2	4	4
PCDHGA12	26025	broad.mit.edu	37	5	140811650	140811650	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140811650G>A	uc003lkt.1	+	c.1324G>A	c.(1324-1326)GTG>ATG	p.V442M	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_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.V442M	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	442	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.172414	19.017028	24.895812	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140811650	140811650	11973	5	G	A	A	A	520	40	PCDHGA12	1	1
SLC26A2	1836	broad.mit.edu	37	5	149361141	149361141	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149361141C>A	uc003lrh.2	+	c.1985C>A	c.(1984-1986)GCA>GAA	p.A662E		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	662	STAS.|Helical; (Potential).					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)											0.448276	156.494979	156.763143	52	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149361141	149361141	15014	5	C	A	A	A	325	25	SLC26A2	2	2
PDGFRB	5159	broad.mit.edu	37	5	149514398	149514398	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149514398G>C	uc003lro.2	-	c.546C>G	c.(544-546)ATC>ATG	p.I182M	PDGFRB_uc010jhd.2_Missense_Mutation_p.S10C|PDGFRB_uc011dcg.1_Missense_Mutation_p.I182M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	182	Extracellular (Potential).|Ig-like C2-type 2.				cardiac myofibril assembly|cell chemotaxis|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.I182M(1)		central_nervous_system(4)|lung(3)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	11		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)				p.I182I(RPMI8402-Tumor)	880				0.556338	277.970258	278.356996	79	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149514398	149514398	12083	5	G	C	C	C	421	33	PDGFRB	3	3
SLC6A7	6534	broad.mit.edu	37	5	149584454	149584454	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149584454G>T	uc003lrr.2	+	c.1497G>T	c.(1495-1497)AGG>AGT	p.R499S		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	499						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)									0.524194	200.692608	200.757275	65	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149584454	149584454	15186	5	G	T	T	T	555	43	SLC6A7	2	2
TCOF1	6949	broad.mit.edu	37	5	149776279	149776279	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149776279G>T	uc003lry.2	+	c.4216G>T	c.(4216-4218)GGG>TGG	p.G1406W	TCOF1_uc011dch.1_Missense_Mutation_p.G1369W|TCOF1_uc003lrz.2_Missense_Mutation_p.G1368W|TCOF1_uc003lrx.2_Missense_Mutation_p.G1330W|TCOF1_uc003lsa.2_Missense_Mutation_p.G1329W	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1406					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.666667	23.600468	23.895626	8	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149776279	149776279	16234	5	G	T	T	T	559	43	TCOF1	2	2
FBXL7	23194	broad.mit.edu	37	5	15928208	15928208	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928208A>T	uc003jfn.1	+	c.337A>T	c.(337-339)AGC>TGC	p.S113C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	113	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.348837	41.406	42.275696	15	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15928208	15928208	5961	5	A	T	T	T	91	7	FBXL7	3	3
FBXL7	23194	broad.mit.edu	37	5	15936728	15936728	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15936728C>T	uc003jfn.1	+	c.909C>T	c.(907-909)CTC>CTT	p.L303L		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	303	LRR 5.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.411765	85.284422	85.747597	28	40	KEEP	---	---	---	---	capture		Silent	SNP	15936728	15936728	5961	5	C	T	T	T	405	32	FBXL7	2	2
HRH2	3274	broad.mit.edu	37	5	175111114	175111114	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175111114G>T	uc003mdc.3	+	c.878G>T	c.(877-879)AGA>ATA	p.R293I	HRH2_uc003mdd.2_Missense_Mutation_p.R293I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	histamine receptor H2 isoform 1	293	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)									0.581522	314.077253	315.132962	107	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175111114	175111114	7648	5	G	T	T	T	429	33	HRH2	2	2
HK3	3101	broad.mit.edu	37	5	176316514	176316514	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176316514A>G	uc003mfa.2	-	c.782T>C	c.(781-783)CTG>CCG	p.L261P	HK3_uc003mez.2_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	261	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|breast(1)	5	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.5	75.601635	75.601635	25	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176316514	176316514	7483	5	A	G	G	G	91	7	HK3	4	4
ADAMTS2	9509	broad.mit.edu	37	5	178541052	178541052	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178541052G>T	uc003mjw.2	-	c.3452C>A	c.(3451-3453)GCC>GAC	p.A1151D		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1151					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.040816	-60.226487	28.600272	16	376	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178541052	178541052	266	5	G	T	T	T	546	42	ADAMTS2	2	2
RUFY1	80230	broad.mit.edu	37	5	179025801	179025801	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179025801A>G	uc003mka.1	+	c.1740A>G	c.(1738-1740)CAA>CAG	p.Q580Q	RUFY1_uc003mkb.1_Silent_p.Q472Q|RUFY1_uc003mkc.1_Silent_p.Q472Q|RUFY1_uc003mkd.1_Silent_p.Q182Q	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	580	Potential.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.586207	375.076099	376.206383	102	72	KEEP	---	---	---	---	capture		Silent	SNP	179025801	179025801	14218	5	A	G	G	G	24	2	RUFY1	4	4
FLT4	2324	broad.mit.edu	37	5	180030287	180030287	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180030287A>G	uc003mlz.3	-	c.3997T>C	c.(3997-3999)TAC>CAC	p.Y1333H		NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	Error:Variant_position_missing_in_P35916_after_alignment					positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity	p.Y1333H(2)		lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.648148	126.339852	127.386318	35	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180030287	180030287	6186	5	A	G	G	G	169	13	FLT4	4	4
CDH18	1016	broad.mit.edu	37	5	19591193	19591193	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19591193G>T	uc003jgc.2	-	c.972C>A	c.(970-972)ACC>ACA	p.T324T	CDH18_uc003jgd.2_Silent_p.T324T|CDH18_uc011cnm.1_Silent_p.T324T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	324	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.314079	248.134686	256.649462	87	190	KEEP	---	---	---	---	capture		Silent	SNP	19591193	19591193	3232	5	G	T	T	T	600	47	CDH18	2	2
CDH18	1016	broad.mit.edu	37	5	19747347	19747347	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19747347T>C	uc003jgc.2	-	c.229_splice	c.e3-1	p.L77_splice	CDH18_uc003jgd.2_Splice_Site_SNP_p.L77_splice|CDH18_uc011cnm.1_Splice_Site_SNP_p.L77_splice	NM_004934	NP_004925			cadherin 18, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.28972	80.676901	84.920425	31	76	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	19747347	19747347	3232	5	T	C	C	C	715	55	CDH18	5	4
CDH10	1008	broad.mit.edu	37	5	24593440	24593440	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24593440G>T	uc003jgr.1	-	c.160C>A	c.(160-162)CGT>AGT	p.R54S	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	54					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.365079	414.955664	421.003542	138	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24593440	24593440	3225	5	G	T	T	T	520	40	CDH10	1	1
IRX2	153572	broad.mit.edu	37	5	2749051	2749051	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:2749051C>A	uc003jda.2	-	c.771G>T	c.(769-771)AAG>AAT	p.K257N	IRX2_uc003jdb.2_Missense_Mutation_p.K257N	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	257					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)										0.272727	34.955424	37.554045	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2749051	2749051	8148	5	C	A	A	A	311	24	IRX2	2	2
RNASEN	29102	broad.mit.edu	37	5	31526249	31526249	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31526249C>A	uc003jhg.2	-	c.791G>T	c.(790-792)CGG>CTG	p.R264L	RNASEN_uc003jhh.2_Missense_Mutation_p.R264L|RNASEN_uc003jhi.2_Missense_Mutation_p.R264L|RNASEN_uc010iui.1_Missense_Mutation_p.R255L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	264	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0														0.183544	64.607726	79.437587	29	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31526249	31526249	13894	5	C	A	A	A	299	23	RNASEN	1	1
TARS	6897	broad.mit.edu	37	5	33462014	33462014	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33462014G>T	uc011coc.1	+	c.1696G>T	c.(1696-1698)GAC>TAC	p.D566Y	TARS_uc011cob.1_Missense_Mutation_p.D533Y|TARS_uc010iup.1_Missense_Mutation_p.D486Y|TARS_uc003jhy.2_Missense_Mutation_p.D545Y|TARS_uc003jhz.2_Missense_Mutation_p.D441Y|TARS_uc011cod.1_Missense_Mutation_p.D424Y	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	545					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)									0.515464	154.788351	154.806459	50	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33462014	33462014	16081	5	G	T	T	T	585	45	TARS	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33643510	33643510	+	Silent	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33643510T>C	uc003jia.1	-	c.1545A>G	c.(1543-1545)GCA>GCG	p.A515A	ADAMTS12_uc010iuq.1_Silent_p.A515A	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	515	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.428571	325.545054	326.668089	108	144	KEEP	---	---	---	---	capture		Silent	SNP	33643510	33643510	258	5	T	C	C	C	704	55	ADAMTS12	4	4
NIPBL	25836	broad.mit.edu	37	5	36958221	36958221	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36958221C>G	uc003jkl.3	+	c.246C>G	c.(244-246)AAC>AAG	p.N82K	NIPBL_uc003jkk.3_Missense_Mutation_p.N82K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	82					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)							934				0.165138	46.283814	57.878774	18	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36958221	36958221	10829	5	C	G	G	G	233	18	NIPBL	3	3
AHRR	57491	broad.mit.edu	37	5	424015	424015	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:424015A>G	uc003jav.2	+	c.643A>G	c.(643-645)ACC>GCC	p.T215A	AHRR_uc003jaw.2_Missense_Mutation_p.T211A|AHRR_uc010isy.2_Missense_Mutation_p.T61A|AHRR_uc010isz.2_Missense_Mutation_p.T211A|AHRR_uc003jax.2_5'UTR|AHRR_uc003jay.2_Missense_Mutation_p.T71A	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)											0.122302	17.806388	37.205405	17	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	424015	424015	420	5	A	G	G	G	78	6	AHRR	4	4
IL31RA	133396	broad.mit.edu	37	5	55204169	55204169	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55204169C>A	uc003jql.2	+	c.1431C>A	c.(1429-1431)CCC>CCA	p.P477P	IL31RA_uc003jqk.2_Silent_p.P477P|IL31RA_uc011cqj.1_Silent_p.P335P|IL31RA_uc003jqm.2_Silent_p.P445P|IL31RA_uc003jqn.2_Silent_p.P477P|IL31RA_uc010iwa.1_Silent_p.P445P|IL31RA_uc003jqo.2_Silent_p.P335P	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	445	Extracellular (Potential).|Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)												0.5625	142.778578	143.049858	45	35	KEEP	---	---	---	---	capture		Silent	SNP	55204169	55204169	7992	5	C	A	A	A	262	21	IL31RA	2	2
HTR1A	3350	broad.mit.edu	37	5	63257024	63257024	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:63257024A>T	uc011cqt.1	-	c.523T>A	c.(523-525)TGG>AGG	p.W175R		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	175	Helical; Name=4; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.532374	469.425837	469.681483	148	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63257024	63257024	7736	5	A	T	T	T	91	7	HTR1A	3	3
NSA2	10412	broad.mit.edu	37	5	74064821	74064821	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74064821A>G	uc003kdk.1	+	c.69A>G	c.(67-69)AAA>AAG	p.K23K	GFM2_uc003kdh.1_5'Flank|GFM2_uc003kdi.1_5'Flank|GFM2_uc010izj.1_5'Flank|GFM2_uc010izk.1_5'Flank|GFM2_uc003kdj.1_5'Flank|GFM2_uc010izl.1_5'Flank	NM_014886	NP_055701	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog	23	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				ovary(1)	1														0.612903	71.832993	72.17944	19	12	KEEP	---	---	---	---	capture		Silent	SNP	74064821	74064821	11073	5	A	G	G	G	11	1	NSA2	4	4
ADCY2	108	broad.mit.edu	37	5	7690869	7690869	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7690869G>T	uc003jdz.1	+	c.786G>T	c.(784-786)CAG>CAT	p.Q262H	ADCY2_uc011cmo.1_Missense_Mutation_p.Q82H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	262	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.354167	89.604748	91.411664	34	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7690869	7690869	295	5	G	T	T	T	425	33	ADCY2	2	2
TRIP13	9319	broad.mit.edu	37	5	894987	894987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:894987G>T	uc003jbr.2	+	c.178G>T	c.(178-180)GAG>TAG	p.E60*	BRD9_uc003jbn.2_5'Flank|BRD9_uc011cmb.1_5'Flank|BRD9_uc003jbo.2_5'Flank|BRD9_uc003jbq.2_5'Flank|BRD9_uc011cmc.1_5'Flank|TRIP13_uc010ite.1_Nonsense_Mutation_p.E60*	NM_004237	NP_004228	Q15645	TRP13_HUMAN	thyroid hormone receptor interactor 13	60					transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity				0			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)							458				0.098901	5.806135	20.449657	9	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	894987	894987	17107	5	G	T	T	T	585	45	TRIP13	5	2
GRIK2	2898	broad.mit.edu	37	6	102134218	102134218	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102134218G>C	uc003pqp.3	+	c.941G>C	c.(940-942)GGA>GCA	p.G314A	GRIK2_uc003pqn.2_Missense_Mutation_p.G314A|GRIK2_uc003pqo.3_Missense_Mutation_p.G314A|GRIK2_uc010kcw.2_Missense_Mutation_p.G314A	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	314	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|breast(1)|pancreas(1)	4		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)									0.516854	168.651411	168.673279	46	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102134218	102134218	7053	6	G	C	C	C	533	41	GRIK2	3	3
ARHGAP18	93663	broad.mit.edu	37	6	129901237	129901237	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129901237C>A	uc003qbr.2	-	c.1878G>T	c.(1876-1878)TTG>TTT	p.L626F	ARHGAP18_uc011ebw.1_Missense_Mutation_p.V585L	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)										0.268293	30.304327	32.293141	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129901237	129901237	879	6	C	A	A	A	220	17	ARHGAP18	2	2
KIAA1244	57221	broad.mit.edu	37	6	138638516	138638516	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:138638516G>A	uc003qhu.2	+	c.4474G>A	c.(4474-4476)GGA>AGA	p.G1492R		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1492	Helical; (Potential).				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)										0.380952	26.095048	26.356123	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138638516	138638516	8526	6	G	A	A	A	455	35	KIAA1244	2	2
CD83	9308	broad.mit.edu	37	6	14118281	14118281	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:14118281G>T	uc003nbi.2	+	c.138G>T	c.(136-138)ACG>ACT	p.T46T	CD83_uc003nbh.2_Silent_p.T46T	NM_004233	NP_004224	Q01151	CD83_HUMAN	CD83 antigen isoform a	46	Extracellular (Potential).|Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane					0	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)												0.78125	82.888376	85.220543	25	7	KEEP	---	---	---	---	capture		Silent	SNP	14118281	14118281	3169	6	G	T	T	T	496	39	CD83	1	1
VTA1	51534	broad.mit.edu	37	6	142468446	142468446	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:142468446C>T	uc003qiw.2	+	c.22C>T	c.(22-24)CCC>TCC	p.P8S	VTA1_uc011edt.1_Non-coding_Transcript|VTA1_uc011edu.1_5'UTR	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Vps20-associated 1 homolog	8	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding				0	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)								OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.185714	25.54438	32.017886	13	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142468446	142468446	17802	6	C	T	T	T	338	26	VTA1	2	2
PPIL4	85313	broad.mit.edu	37	6	149838586	149838586	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:149838586C>G	uc003qmo.1	-	c.983G>C	c.(982-984)GGT>GCT	p.G328A	PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Missense_Mutation_p.G328A	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	328	Lys-rich.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)										0.285714	18.842167	19.706889	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149838586	149838586	12764	6	C	G	G	G	234	18	PPIL4	3	3
DTNBP1	84062	broad.mit.edu	37	6	15615574	15615574	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:15615574A>C	uc003nbm.2	-	c.412T>G	c.(412-414)TTA>GTA	p.L138V	DTNBP1_uc003nbl.2_Missense_Mutation_p.L57V|DTNBP1_uc003nbn.2_Non-coding_Transcript|DTNBP1_uc003nbo.2_Non-coding_Transcript|DTNBP1_uc003nbp.2_Missense_Mutation_p.L138V|DTNBP1_uc010jph.2_Missense_Mutation_p.L125V	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	138	Potential.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)											0.061674	-16.339851	29.173219	14	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15615574	15615574	4975	6	A	C	C	C	37	3	DTNBP1	4	4
FNDC1	84624	broad.mit.edu	37	6	159653426	159653426	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159653426G>T	uc010kjv.2	+	c.1882G>T	c.(1882-1884)GGC>TGC	p.G628C	FNDC1_uc010kjw.1_Missense_Mutation_p.G513C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	628						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)										0.536585	64.252027	64.299975	22	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159653426	159653426	6210	6	G	T	T	T	559	43	FNDC1	2	2
FNDC1	84624	broad.mit.edu	37	6	159653965	159653965	+	Silent	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159653965G>C	uc010kjv.2	+	c.2421G>C	c.(2419-2421)ACG>ACC	p.T807T	FNDC1_uc010kjw.1_Silent_p.T692T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	807						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)										0.764706	46.283887	47.373589	13	4	KEEP	---	---	---	---	capture		Silent	SNP	159653965	159653965	6210	6	G	C	C	C	483	38	FNDC1	3	3
LPA	4018	broad.mit.edu	37	6	160999597	160999597	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160999597T>A	uc003qtl.2	-	c.4429A>T	c.(4429-4431)ACA>TCA	p.T1477S		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3985	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.217241	150.584887	171.954295	63	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160999597	160999597	9276	6	T	A	A	A	767	59	LPA	3	3
OR12D3	81797	broad.mit.edu	37	6	29342471	29342471	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29342471G>A	uc003nme.2	-	c.594C>T	c.(592-594)TCC>TCT	p.S198S		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3														0.674877	424.606806	430.108442	137	66	KEEP	---	---	---	---	capture		Silent	SNP	29342471	29342471	11338	6	G	A	A	A	600	47	OR12D3	2	2
OR10C1	442194	broad.mit.edu	37	6	29408205	29408205	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29408205G>T	uc011dlp.1	+	c.413G>T	c.(412-414)CGG>CTG	p.R138L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q6IFQ5	Q6IFQ5_HUMAN	olfactory receptor, family 10, subfamily C,	138						integral to membrane	olfactory receptor activity				0														0.712042	904.180176	919.622951	272	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29408205	29408205	11304	6	G	T	T	T	507	39	OR10C1	1	1
GRM4	2914	broad.mit.edu	37	6	34003901	34003901	+	Silent	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34003901C>G	uc003oir.3	-	c.1986G>C	c.(1984-1986)GGG>GGC	p.G662G	GRM4_uc011dsn.1_Silent_p.G615G|GRM4_uc010jvh.2_Silent_p.G662G|GRM4_uc010jvi.2_Silent_p.G354G|GRM4_uc003oio.2_Silent_p.G354G|GRM4_uc003oip.2_Non-coding_Transcript|GRM4_uc011dsl.1_Silent_p.G522G|GRM4_uc003oiq.2_Silent_p.G529G|GRM4_uc011dsm.1_Silent_p.G493G	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	662	Helical; Name=3; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.629412	358.706647	361.185116	107	63	KEEP	---	---	---	---	capture		Silent	SNP	34003901	34003901	7078	6	C	G	G	G	379	30	GRM4	3	3
KIF6	221458	broad.mit.edu	37	6	39513461	39513461	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39513461C>A	uc003oot.2	-	c.1185G>T	c.(1183-1185)CTG>CTT	p.L395L	KIF6_uc010jxa.1_Silent_p.L186L|KIF6_uc011dua.1_Silent_p.L395L|KIF6_uc010jxb.1_Silent_p.L395L	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	395					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.646341	526.688779	531.332133	159	87	KEEP	---	---	---	---	capture		Silent	SNP	39513461	39513461	8619	6	C	A	A	A	262	21	KIF6	2	2
TBCC	6903	broad.mit.edu	37	6	42713449	42713449	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42713449C>A	uc003osl.2	-	c.363G>T	c.(361-363)CAG>CAT	p.Q121H		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	121					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)											0.727273	98.909392	100.917548	32	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42713449	42713449	16157	6	C	A	A	A	311	24	TBCC	2	2
KCNQ5	56479	broad.mit.edu	37	6	73902341	73902341	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:73902341A>T	uc011dyh.1	+	c.1820A>T	c.(1819-1821)GAG>GTG	p.E607V	KCNQ5_uc011dyi.1_Missense_Mutation_p.E598V|KCNQ5_uc010kat.2_Missense_Mutation_p.E579V|KCNQ5_uc003pgk.2_Missense_Mutation_p.E588V|KCNQ5_uc011dyj.1_Missense_Mutation_p.E478V|KCNQ5_uc011dyk.1_Missense_Mutation_p.E338V	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	588					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)	6		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GBM(142;1375 1859 14391 23261 44706)								0.550725	231.387136	231.69384	76	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73902341	73902341	8391	6	A	T	T	T	143	11	KCNQ5	3	3
C6orf221	154288	broad.mit.edu	37	6	74072832	74072832	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:74072832C>G	uc003pgt.3	+	c.184C>G	c.(184-186)CGC>GGC	p.R62G		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	62	KH; atypical.										0														0.466667	166.557626	166.659007	49	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74072832	74072832	2460	6	C	G	G	G	247	19	C6orf221	3	3
EPHB4	2050	broad.mit.edu	37	7	100410563	100410563	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100410563T>A	uc003uwn.1	-	c.1924A>T	c.(1924-1926)AGC>TGC	p.S642C	EPHB4_uc003uwm.1_Missense_Mutation_p.S549C|EPHB4_uc010lhj.1_Missense_Mutation_p.S642C	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	642	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|protein phosphorylation|regulation of angiogenesis|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|stomach(2)|ovary(2)|central_nervous_system(2)|skin(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)					GBM(200;2113 3072 25865 52728)				223				0.36	312.174592	317.783092	117	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100410563	100410563	5370	7	T	A	A	A	702	54	EPHB4	3	3
MUC17	140453	broad.mit.edu	37	7	100684927	100684927	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100684927G>T	uc003uxp.1	+	c.10230G>T	c.(10228-10230)CCG>CCT	p.P3410P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3410	Extracellular (Potential).|55.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.280576	220.03423	232.0647	78	200	KEEP	---	---	---	---	capture		Silent	SNP	100684927	100684927	10368	7	G	T	T	T	496	39	MUC17	1	1
LRRN3	54674	broad.mit.edu	37	7	110763583	110763583	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:110763583C>A	uc003vft.3	+	c.755C>A	c.(754-756)CCC>CAC	p.P252H	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P252H|LRRN3_uc003vfs.3_Missense_Mutation_p.P252H	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	252	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)										0.114407	28.305238	62.855303	27	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110763583	110763583	9412	7	C	A	A	A	286	22	LRRN3	2	2
CTTNBP2	83992	broad.mit.edu	37	7	117432023	117432023	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117432023G>T	uc003vjf.2	-	c.1227C>A	c.(1225-1227)ACC>ACA	p.T409T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	409	Pro-rich.									ovary(4)	4	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)										0.392185	828.803018	835.721847	271	420	KEEP	---	---	---	---	capture		Silent	SNP	117432023	117432023	4204	7	G	T	T	T	496	39	CTTNBP2	1	1
CPA5	93979	broad.mit.edu	37	7	129999468	129999468	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129999468C>A	uc010lmd.1	+	c.372C>A	c.(370-372)TCC>TCA	p.S124S	CPA5_uc003vps.2_Silent_p.S124S|CPA5_uc003vpt.2_Silent_p.S124S|CPA5_uc010lme.1_Silent_p.S124S|CPA5_uc003vpu.1_Silent_p.S124S	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	124					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)													0.333333	13.576697	13.942374	5	10	KEEP	---	---	---	---	capture		Silent	SNP	129999468	129999468	3931	7	C	A	A	A	275	22	CPA5	2	2
ATP6V0A4	50617	broad.mit.edu	37	7	138406664	138406664	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138406664G>T	uc003vuf.2	-	c.2117C>A	c.(2116-2118)GCT>GAT	p.A706D	ATP6V0A4_uc003vug.2_Missense_Mutation_p.A706D|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.A706D	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	706	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1														0.638095	200.281663	202.027643	67	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138406664	138406664	1189	7	G	T	T	T	442	34	ATP6V0A4	2	2
HIPK2	28996	broad.mit.edu	37	7	139285162	139285162	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139285162C>G	uc003vvf.3	-	c.2435_splice	c.e11+1	p.R812_splice	HIPK2_uc003vvd.3_Splice_Site_SNP_p.R785_splice	NM_022740	NP_073577			homeodomain interacting protein kinase 2 isoform						apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)									363				0.651515	166.448414	167.78719	43	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	139285162	139285162	7402	7	C	G	G	G	234	18	HIPK2	5	3
ADCK2	90956	broad.mit.edu	37	7	140386994	140386994	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140386994G>A	uc003vvy.1	+	c.1510G>A	c.(1510-1512)GAC>AAC	p.D504N	ADCK2_uc003vvz.2_Missense_Mutation_p.D504N	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	504	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)									111				0.888889	25.857853	27.150524	8	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140386994	140386994	290	7	G	A	A	A	585	45	ADCK2	2	2
OR9A4	130075	broad.mit.edu	37	7	141619136	141619136	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141619136T>C	uc003vwu.1	+	c.461T>C	c.(460-462)CTT>CCT	p.L154P		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0171)													0.025035	-140.790694	39.077332	18	701	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141619136	141619136	11660	7	T	C	C	C	728	56	OR9A4	4	4
OR9A4	130075	broad.mit.edu	37	7	141619404	141619404	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141619404C>T	uc003vwu.1	+	c.729C>T	c.(727-729)TCC>TCT	p.S243S		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0171)													0.713781	660.139292	671.754568	202	81	KEEP	---	---	---	---	capture		Silent	SNP	141619404	141619404	11660	7	C	T	T	T	275	22	OR9A4	2	2
KCNH2	3757	broad.mit.edu	37	7	150654416	150654416	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150654416T>A	uc003wic.2	-	c.1091A>T	c.(1090-1092)AAG>ATG	p.K364M	KCNH2_uc003wib.2_5'Flank|KCNH2_uc011kux.1_Missense_Mutation_p.K268M|KCNH2_uc003wid.2_5'Flank|KCNH2_uc003wie.2_Missense_Mutation_p.K364M	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	364	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			ovary(1)|skin(1)	2	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GBM(137;110 1844 13671 20123 45161)				314				0.733333	37.12973	37.866723	11	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150654416	150654416	8337	7	T	A	A	A	728	56	KCNH2	3	3
ABCB5	340273	broad.mit.edu	37	7	20739701	20739701	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20739701A>G	uc010kuh.2	+	c.2280A>G	c.(2278-2280)GCA>GCG	p.A760A	ABCB5_uc003suw.3_Silent_p.A315A	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	315	Extracellular (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.495385	514.859357	514.864774	161	164	KEEP	---	---	---	---	capture		Silent	SNP	20739701	20739701	45	7	A	G	G	G	80	7	ABCB5	4	4
HOXA9	3205	broad.mit.edu	37	7	27204712	27204712	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27204712G>T	uc003syt.2	-	c.365C>A	c.(364-366)GCG>GAG	p.A122E		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	122					regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			central_nervous_system(1)	1										22				0.314286	30.608902	31.632207	11	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27204712	27204712	7590	7	G	T	T	T	494	38	HOXA9	1	1
PDE1C	5137	broad.mit.edu	37	7	31918701	31918701	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31918701C>A	uc003tco.1	-	c.513G>T	c.(511-513)ACG>ACT	p.T171T	PDE1C_uc003tcm.1_Silent_p.T111T|PDE1C_uc003tcn.1_Silent_p.T111T|PDE1C_uc003tcr.2_Silent_p.T111T|PDE1C_uc003tcs.2_Silent_p.T111T	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	111					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)											0.36413	193.735902	196.698299	67	117	KEEP	---	---	---	---	capture		Silent	SNP	31918701	31918701	12056	7	C	A	A	A	340	27	PDE1C	1	1
SDK1	221935	broad.mit.edu	37	7	3658732	3658732	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:3658732A>G	uc003smx.2	+	c.319A>G	c.(319-321)AAA>GAA	p.K107E		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	107	Ig-like C2-type 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.133333	16.166396	23.987516	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3658732	3658732	14454	7	A	G	G	G	169	13	SDK1	4	4
C7orf10	79783	broad.mit.edu	37	7	40488937	40488937	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:40488937C>G	uc003thn.1	+	c.868C>G	c.(868-870)CAG>GAG	p.Q290E	C7orf10_uc003thm.1_Missense_Mutation_p.Q260E|C7orf10_uc003tho.1_Missense_Mutation_p.Q242E	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	297							transferase activity			ovary(2)	2														0.326733	102.637817	105.328687	33	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40488937	40488937	2483	7	C	G	G	G	325	25	C7orf10	3	3
SDK1	221935	broad.mit.edu	37	7	4091270	4091270	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4091270C>A	uc003smx.2	+	c.2719C>A	c.(2719-2721)CTT>ATT	p.L907I	SDK1_uc010kso.2_Missense_Mutation_p.L183I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	907	Fibronectin type-III 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.059211	-41.603767	51.165252	27	429	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4091270	4091270	14454	7	C	A	A	A	364	28	SDK1	2	2
GLI3	2737	broad.mit.edu	37	7	42079691	42079691	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42079691C>A	uc011kbh.1	-	c.974G>T	c.(973-975)CGT>CTT	p.R325L	GLI3_uc011kbg.1_Missense_Mutation_p.R266L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	325					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8									p.R325H(RCHACV-Tumor)|p.R325H(HEC6-Tumor)	806				0.402439	526.814838	530.220539	165	245	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42079691	42079691	6707	7	C	A	A	A	247	19	GLI3	1	1
HECW1	23072	broad.mit.edu	37	7	43400571	43400571	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43400571G>T	uc003tid.1	+	c.547G>T	c.(547-549)GCA>TCA	p.A183S	HECW1_uc011kbi.1_Missense_Mutation_p.A183S|HECW1_uc003tie.1_Missense_Mutation_p.A215S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	183					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.307985	218.206938	226.833998	81	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43400571	43400571	7325	7	G	T	T	T	546	42	HECW1	2	2
IKZF1	10320	broad.mit.edu	37	7	50455158	50455158	+	Silent	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50455158A>T	uc003tow.3	+	c.705A>T	c.(703-705)ACA>ACT	p.T235T	IKZF1_uc003tox.3_Intron|IKZF1_uc003toy.3_Intron|IKZF1_uc011kck.1_Silent_p.T148T|IKZF1_uc003toz.3_Silent_p.T205T|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	235					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)								226				0.444444	22.176545	22.227471	8	10	KEEP	---	---	---	---	capture		Silent	SNP	50455158	50455158	7915	7	A	T	T	T	67	6	IKZF1	3	3
MIOS	54468	broad.mit.edu	37	7	7613335	7613335	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:7613335G>T	uc003srf.2	+	c.1229G>T	c.(1228-1230)TGG>TTG	p.W410L	MIOS_uc010ktp.1_Missense_Mutation_p.W410L	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	410	WD 6.										0														0.405099	418.836678	421.620507	143	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7613335	7613335	9979	7	G	T	T	T	611	47	MIOS	2	2
ZNF804B	219578	broad.mit.edu	37	7	88962877	88962877	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88962877A>T	uc011khi.1	+	c.581A>T	c.(580-582)GAC>GTC	p.D194V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	194						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.66537	540.986216	547.206342	171	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88962877	88962877	18769	7	A	T	T	T	130	10	ZNF804B	3	3
C7orf63	79846	broad.mit.edu	37	7	89900852	89900852	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:89900852C>T	uc010lep.2	+	c.545C>T	c.(544-546)GCG>GTG	p.A182V	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.A164V|C7orf63_uc010leo.2_Missense_Mutation_p.A180V	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	182							binding			ovary(1)	1														0.607527	344.502665	346.395696	113	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89900852	89900852	2516	7	C	T	T	T	351	27	C7orf63	1	1
PVRIG	79037	broad.mit.edu	37	7	99817833	99817833	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99817833T>C	uc003uue.2	+	c.215T>C	c.(214-216)CTG>CCG	p.L72P	GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.L72P	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin	72	Helical; (Potential).					integral to membrane					0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.264706	19.865921	21.564874	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99817833	99817833	13296	7	T	C	C	C	715	55	PVRIG	4	4
PRSS55	203074	broad.mit.edu	37	8	10390482	10390482	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10390482G>T	uc003wta.2	+	c.665G>T	c.(664-666)TGT>TTT	p.C222F	PRSS55_uc003wtb.2_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	222	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1														0.434211	102.562024	102.849121	33	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10390482	10390482	13085	8	G	T	T	T	624	48	PRSS55	2	2
ANGPT1	284	broad.mit.edu	37	8	108334146	108334146	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108334146G>A	uc003ymn.2	-	c.786C>T	c.(784-786)GTC>GTT	p.V262V	ANGPT1_uc011lhv.1_Silent_p.V62V|ANGPT1_uc003ymo.2_Silent_p.V262V|ANGPT1_uc003ymp.3_Silent_p.V62V	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	262					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)	3	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)											0.167539	57.283599	77.290613	32	159	KEEP	---	---	---	---	capture		Silent	SNP	108334146	108334146	613	8	G	A	A	A	574	45	ANGPT1	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110457398	110457398	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110457398T>C	uc003yne.2	+	c.5300T>C	c.(5299-5301)ATT>ACT	p.I1767T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1767	Extracellular (Potential).|IPT/TIG 10.				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)											0.492308	347.011306	347.020937	96	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110457398	110457398	12397	8	T	C	C	C	676	52	PKHD1L1	4	4
CSMD3	114788	broad.mit.edu	37	8	113349005	113349005	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113349005A>T	uc003ynu.2	-	c.6895T>A	c.(6895-6897)TAT>AAT	p.Y2299N	CSMD3_uc003yns.2_Missense_Mutation_p.Y1501N|CSMD3_uc003ynt.2_Missense_Mutation_p.Y2259N|CSMD3_uc011lhx.1_Missense_Mutation_p.Y2195N|CSMD3_uc003ynw.1_Missense_Mutation_p.Y10N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2299	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.279167	170.901195	181.451023	67	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113349005	113349005	4087	8	A	T	T	T	182	14	CSMD3	3	3
CSMD3	114788	broad.mit.edu	37	8	114110998	114110998	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:114110998G>T	uc003ynu.2	-	c.904C>A	c.(904-906)CCA>ACA	p.P302T	CSMD3_uc003ynt.2_Missense_Mutation_p.P262T|CSMD3_uc011lhx.1_Missense_Mutation_p.P302T|CSMD3_uc010mcx.1_Missense_Mutation_p.P302T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	302	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52									p.P262S(NCIH2347-Tumor)	2888	TCGA Ovarian(7;0.080)			0.221239	52.322329	60.405493	25	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114110998	114110998	4087	8	G	T	T	T	546	42	CSMD3	2	2
WDR67	93594	broad.mit.edu	37	8	124140660	124140660	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124140660C>T	uc003ypp.1	+	c.2024C>T	c.(2023-2025)CCA>CTA	p.P675L	WDR67_uc011lig.1_Missense_Mutation_p.P675L|WDR67_uc011lih.1_Missense_Mutation_p.P565L|WDR67_uc003ypq.1_Non-coding_Transcript|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Missense_Mutation_p.P132L|WDR67_uc003ypu.1_Missense_Mutation_p.P132L	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	675						intracellular	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)											0.122807	51.287218	98.969011	42	300	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124140660	124140660	17891	8	C	T	T	T	273	21	WDR67	2	2
KCNQ3	3786	broad.mit.edu	37	8	133141908	133141908	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133141908C>A	uc003ytj.2	-	c.2220G>T	c.(2218-2220)ACG>ACT	p.T740T	KCNQ3_uc010mdt.2_Silent_p.T728T	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	740					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)											0.304348	78.484869	81.616247	28	64	KEEP	---	---	---	---	capture		Silent	SNP	133141908	133141908	8389	8	C	A	A	A	236	19	KCNQ3	1	1
COL22A1	169044	broad.mit.edu	37	8	139611081	139611081	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139611081G>T	uc003yvd.2	-	c.4246C>A	c.(4246-4248)CCT>ACT	p.P1416T	COL22A1_uc011ljo.1_Missense_Mutation_p.P696T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1416	Pro-rich.|Gly-rich.|Collagen-like 14.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.421525	269.645919	270.833858	94	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139611081	139611081	3819	8	G	T	T	T	559	43	COL22A1	2	2
SGCZ	137868	broad.mit.edu	37	8	14022192	14022192	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:14022192A>G	uc003wwq.2	-	c.444T>C	c.(442-444)GCT>GCC	p.A148A	SGCZ_uc010lss.2_Silent_p.A101A	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	135	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)										0.047619	-11.309166	11.55961	5	100	KEEP	---	---	---	---	capture		Silent	SNP	14022192	14022192	14695	8	A	G	G	G	132	11	SGCZ	4	4
PTK2	5747	broad.mit.edu	37	8	141874421	141874421	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141874421A>C	uc003yvt.2	-	c.506T>G	c.(505-507)TTC>TGC	p.F169C	PTK2_uc003yvr.2_Missense_Mutation_p.F46C|PTK2_uc003yvs.2_Missense_Mutation_p.F147C|PTK2_uc003yvu.2_Missense_Mutation_p.F147C|PTK2_uc003yvv.2_Missense_Mutation_p.F34C|PTK2_uc011ljr.1_Missense_Mutation_p.F147C	NM_005607	NP_005598	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform b	147	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.F169C(1)		ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)							917				0.489655	255.92392	255.937316	71	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141874421	141874421	13217	8	A	C	C	C	117	9	PTK2	4	4
CYC1	1537	broad.mit.edu	37	8	145151544	145151544	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145151544C>T	uc003zaz.3	+	c.669C>T	c.(667-669)ACC>ACT	p.T223T	CYC1_uc003zay.2_Silent_p.T164T	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	223					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.131579	13.014115	23.043874	10	66	KEEP	---	---	---	---	capture		Silent	SNP	145151544	145151544	4300	8	C	T	T	T	288	23	CYC1	1	1
GFRA2	2675	broad.mit.edu	37	8	21562572	21562572	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21562572T>C	uc003wzu.1	-	c.970A>G	c.(970-972)AGC>GGC	p.S324G	GFRA2_uc003wzv.1_Missense_Mutation_p.S219G|GFRA2_uc003wzw.1_Missense_Mutation_p.S191G	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	324					transmembrane receptor protein tyrosine kinase signaling pathway	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell line-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)										0.285714	11.794847	12.371326	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21562572	21562572	6616	8	T	C	C	C	715	55	GFRA2	4	4
NEFM	4741	broad.mit.edu	37	8	24775961	24775961	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24775961G>T	uc003xed.3	+	c.2593G>T	c.(2593-2595)GGG>TGG	p.G865W	NEFM_uc011lac.1_Missense_Mutation_p.G647W|NEFM_uc010lue.2_Missense_Mutation_p.G489W	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	865	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)										0.40113	189.171052	190.688383	71	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24775961	24775961	10715	8	G	T	T	T	559	43	NEFM	2	2
CSMD1	64478	broad.mit.edu	37	8	2886896	2886896	+	Silent	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2886896C>A	uc011kwk.1	-	c.7803G>T	c.(7801-7803)CTG>CTT	p.L2601L	CSMD1_uc011kwj.1_Silent_p.L1930L|CSMD1_uc010lrg.2_Silent_p.L669L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2601	Extracellular (Potential).|Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.564103	66.391291	66.543283	22	17	KEEP	---	---	---	---	capture		Silent	SNP	2886896	2886896	4085	8	C	A	A	A	314	25	CSMD1	2	2
WRN	7486	broad.mit.edu	37	8	31030597	31030597	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:31030597A>T	uc003xio.3	+	c.4278A>T	c.(4276-4278)AAA>AAT	p.K1426N	WRN_uc010lvk.2_Missense_Mutation_p.K893N	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1426					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)	5		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		Ovarian(18;161 598 2706 14834 27543)				832				0.487179	165.854462	165.871629	57	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31030597	31030597	17976	8	A	T	T	T	11	1	WRN	3	3
CHRNB3	1142	broad.mit.edu	37	8	42586964	42586964	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42586964G>C	uc003xpi.1	+	c.514G>C	c.(514-516)GGA>CGA	p.G172R		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	172	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.433962	229.252529	229.856782	69	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42586964	42586964	3526	8	G	C	C	C	611	47	CHRNB3	3	3
HGSNAT	138050	broad.mit.edu	37	8	43048900	43048900	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:43048900G>T	uc003xpx.3	+	c.1378G>T	c.(1378-1380)GTA>TTA	p.V460L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	488	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)											0.359281	485.86805	494.599001	180	321	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43048900	43048900	7372	8	G	T	T	T	572	44	HGSNAT	2	2
PXDNL	137902	broad.mit.edu	37	8	52320726	52320726	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52320726T>A	uc003xqu.3	-	c.3458A>T	c.(3457-3459)TAT>TTT	p.Y1153F	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1153					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.311224	175.930401	182.136897	61	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52320726	52320726	13306	8	T	A	A	A	637	49	PXDNL	3	3
RP1	6101	broad.mit.edu	37	8	55541305	55541305	+	Silent	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55541305A>G	uc003xsd.1	+	c.4863A>G	c.(4861-4863)AAA>AAG	p.K1621K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1621					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			Colon(91;1014 1389 7634 14542 40420)								0.081886	10.306125	82.259278	33	370	KEEP	---	---	---	---	capture		Silent	SNP	55541305	55541305	14011	8	A	G	G	G	37	3	RP1	4	4
CA8	767	broad.mit.edu	37	8	61192387	61192387	+	Silent	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61192387A>T	uc003xtz.1	-	c.153T>A	c.(151-153)CCT>CCA	p.P51P	CA8_uc003xua.1_Silent_p.P51P|CA8_uc003xub.2_Silent_p.P51P	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	51					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)												0.493056	223.81567	223.821772	71	73	KEEP	---	---	---	---	capture		Silent	SNP	61192387	61192387	2639	8	A	T	T	T	184	15	CA8	3	3
CHD7	55636	broad.mit.edu	37	8	61769079	61769079	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61769079G>T	uc003xue.2	+	c.7240G>T	c.(7240-7242)GCT>TCT	p.A2414S		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2414	Potential.				central nervous system development|chromatin assembly or disassembly|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	chromatin|nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|lung(1)|breast(1)|pancreas(1)	8		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)											0.455556	115.39325	115.542537	41	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61769079	61769079	3464	8	G	T	T	T	442	34	CHD7	2	2
TRIM55	84675	broad.mit.edu	37	8	67062636	67062636	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67062636T>A	uc003xvv.2	+	c.920T>A	c.(919-921)ATG>AAG	p.M307K	TRIM55_uc003xvu.2_Missense_Mutation_p.M307K|TRIM55_uc003xvw.2_Missense_Mutation_p.M307K|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	307	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)											0.311364	408.258927	422.177484	137	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67062636	67062636	17075	8	T	A	A	A	663	51	TRIM55	3	3
CSPP1	79848	broad.mit.edu	37	8	68024266	68024266	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68024266G>T	uc003xxi.2	+	c.1285G>T	c.(1285-1287)GAA>TAA	p.E429*	CSPP1_uc003xxg.1_Nonsense_Mutation_p.E421*|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.2_Nonsense_Mutation_p.E394*|CSPP1_uc003xxk.2_Nonsense_Mutation_p.E100*	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	429	Potential.					microtubule|microtubule organizing center|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)							669				0.248705	113.406493	124.492718	48	145	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	68024266	68024266	4103	8	G	T	T	T	533	41	CSPP1	5	2
PREX2	80243	broad.mit.edu	37	8	69009408	69009408	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:69009408C>A	uc003xxv.1	+	c.2525C>A	c.(2524-2526)CCC>CAC	p.P842H	PREX2_uc003xxu.1_Missense_Mutation_p.P842H|PREX2_uc011lez.1_Missense_Mutation_p.P777H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	842					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				0.153846	68.854011	101.59767	44	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69009408	69009408	12920	8	C	A	A	A	286	22	PREX2	2	2
ZFHX4	79776	broad.mit.edu	37	8	77765788	77765788	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77765788C>A	uc003yav.2	+	c.6496C>A	c.(6496-6498)CAG>AAG	p.Q2166K	ZFHX4_uc003yau.1_Missense_Mutation_p.Q2211K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2166K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2166					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)											0.443299	398.255668	399.066888	129	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77765788	77765788	18223	8	C	A	A	A	221	17	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77775393	77775393	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77775393T>G	uc003yav.2	+	c.9308T>G	c.(9307-9309)CTG>CGG	p.L3103R		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3099	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)											0.1875	5.214892	6.679179	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77775393	77775393	18223	8	T	G	G	G	715	55	ZFHX4	4	4
FABP12	646486	broad.mit.edu	37	8	82441843	82441843	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82441843T>C	uc011lfp.1	-	c.76A>G	c.(76-78)ATA>GTA	p.I26V	FABP12_uc003ycg.3_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	26							lipid binding|transporter activity				0														0.302564	191.680761	198.449207	59	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82441843	82441843	5553	8	T	C	C	C	637	49	FABP12	4	4
SLC26A7	115111	broad.mit.edu	37	8	92261929	92261929	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92261929A>T	uc003yez.2	+	c.50A>T	c.(49-51)CAT>CTT	p.H17L	SLC26A7_uc003yex.2_Missense_Mutation_p.H17L|SLC26A7_uc003yey.2_Non-coding_Transcript|SLC26A7_uc003yfa.2_Missense_Mutation_p.H17L	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform b	17	Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)											0.43465	463.355072	464.582581	143	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92261929	92261929	15019	8	A	T	T	T	104	8	SLC26A7	3	3
RUNX1T1	862	broad.mit.edu	37	8	93026806	93026807	+	Splice_Site_DNP	DNP	CC	GA	GA			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:93026806_93026807CC>GA	uc011lgi.1	-	c.501_splice	c.e3+1	p.V167_splice	RUNX1T1_uc003yfc.1_Splice_Site_DNP_p.V129_splice|RUNX1T1_uc003yfd.2_Splice_Site_DNP_p.V156_splice|RUNX1T1_uc003yfe.1_Splice_Site_DNP_p.V119_splice|RUNX1T1_uc010mao.2_Splice_Site_DNP_p.V129_splice|RUNX1T1_uc003yfh.1_Splice_Site_DNP_p.V119_splice|RUNX1T1_uc003yfb.1_Splice_Site_DNP_p.V119_splice|RUNX1T1_uc003yff.1_Splice_Site_DNP_p.V119_splice|RUNX1T1_uc003yfg.1_Splice_Site_DNP_p.V119_splice	NM_175636	NP_783554			acute myelogenous leukemia 1 translocation 1						generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)							213				0.290557	392.329133	408.50379	120	293	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	93026806	93026807	14227	8	CC	GA	GA	GA	234	18	RUNX1T1	5	3
C9orf5	23731	broad.mit.edu	37	9	111812963	111812963	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:111812963A>G	uc004bdt.3	-	c.1864T>C	c.(1864-1866)TCT>CCT	p.S622P	C9orf5_uc004bds.3_Non-coding_Transcript|C9orf5_uc004bdr.3_Missense_Mutation_p.S614P	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	622						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)										0.294737	84.362081	87.944355	28	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111812963	111812963	2601	9	A	G	G	G	130	10	C9orf5	4	4
TNC	3371	broad.mit.edu	37	9	117825220	117825220	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117825220G>T	uc004bjj.3	-	c.4009C>A	c.(4009-4011)CCC>ACC	p.P1337T	TNC_uc010mvf.2_Missense_Mutation_p.P1337T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1337	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.271186	40.471104	43.25911	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117825220	117825220	16811	9	G	T	T	T	572	44	TNC	2	2
NR5A1	2516	broad.mit.edu	37	9	127262395	127262395	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:127262395T>A	uc004boo.1	-	c.844A>T	c.(844-846)AGG>TGG	p.R282W		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	282	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0														0.424242	43.048244	43.212491	14	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127262395	127262395	11040	9	T	A	A	A	713	55	NR5A1	3	3
LCN1	3933	broad.mit.edu	37	9	138416980	138416980	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138416980A>G	uc004cfz.1	+	c.508A>G	c.(508-510)ACC>GCC	p.T170A	LCN1_uc004cga.1_Missense_Mutation_p.T170A	NM_002297	NP_002288	P31025	LCN1_HUMAN	lipocalin 1 precursor	170					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)										0.423729	265.31087	266.204407	75	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138416980	138416980	9004	9	A	G	G	G	26	2	LCN1	4	4
FREM1	158326	broad.mit.edu	37	9	14863852	14863852	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14863852C>T	uc003zlm.2	-	c.284G>A	c.(283-285)GGT>GAT	p.G95D	FREM1_uc010mic.2_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	95					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.171875	22.720192	29.204499	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14863852	14863852	6291	9	C	T	T	T	234	18	FREM1	2	2
IFNA21	3452	broad.mit.edu	37	9	21166424	21166424	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21166424T>A	uc003zom.2	-	c.188A>T	c.(187-189)CAG>CTG	p.Q63L		NM_002175	NP_002166	P01568	IFN21_HUMAN	interferon, alpha 21 precursor	63					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)										0.197183	199.323382	235.655584	84	342	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21166424	21166424	7839	9	T	A	A	A	715	55	IFNA21	3	3
IFNA17	3451	broad.mit.edu	37	9	21227931	21227931	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21227931T>A	uc003zos.1	-	c.242A>T	c.(241-243)CAT>CTT	p.H81L	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	81					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)										0.366492	222.424671	225.407836	70	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21227931	21227931	7837	9	T	A	A	A	663	51	IFNA17	3	3
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21971028C>G	uc003zpl.2	-	c.496G>C	c.(496-498)GGG>CGG	p.G166R	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc003zpk.2_Missense_Mutation_p.W110C|CDKN2A_uc010miu.2_Non-coding_Transcript	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	Error:Variant_position_missing_in_P42771_after_alignment					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.W110*(30)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(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	p.W110*(CHL1-Tumor)|p.W110*(YD10B-Tumor)	76	TSP Lung(5;3.83e-07)			0.370968	62.702488	63.611782	23	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21971028	21971028	3290	9	C	G	G	G	286	22	CDKN2A	3	3
DNAI1	27019	broad.mit.edu	37	9	34506861	34506861	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34506861C>T	uc003zum.2	+	c.1300C>T	c.(1300-1302)CCT>TCT	p.P434S		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	434	WD 2.				cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)										0.469388	69.819713	69.859736	23	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34506861	34506861	4792	9	C	T	T	T	286	22	DNAI1	2	2
PIGO	84720	broad.mit.edu	37	9	35091867	35091867	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35091867A>G	uc003zwd.2	-	c.2017T>C	c.(2017-2019)TGT>CGT	p.C673R	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.C236R	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	673	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.439024	101.352345	101.623029	36	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35091867	35091867	12318	9	A	G	G	G	65	5	PIGO	4	4
FAM108B1	51104	broad.mit.edu	37	9	74489794	74489794	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74489794C>A	uc004ail.2	-	c.203G>T	c.(202-204)TGT>TTT	p.C68F	FAM108B1_uc004aim.1_Missense_Mutation_p.C68F	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	family with sequence similarity 108, member B1	68					proteolysis	extracellular region	serine-type peptidase activity				0														0.25	71.83923	78.208326	28	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74489794	74489794	5589	9	C	A	A	A	221	17	FAM108B1	2	2
TLE4	7091	broad.mit.edu	37	9	82267549	82267549	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:82267549C>T	uc004ald.2	+	c.411C>T	c.(409-411)CTC>CTT	p.L137L	TLE4_uc004alc.2_Silent_p.L144L|TLE4_uc010mpr.2_Silent_p.L23L|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.L112L|TLE4_uc010mps.2_Silent_p.L137L|TLE4_uc004alf.2_Silent_p.L83L	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										ovary(1)	1														0.262948	158.366181	171.200274	66	185	KEEP	---	---	---	---	capture		Silent	SNP	82267549	82267549	16471	9	C	T	T	T	379	30	TLE4	2	2
NAA35	60560	broad.mit.edu	37	9	88611371	88611371	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:88611371C>T	uc004aoi.3	+	c.935C>T	c.(934-936)ACC>ATC	p.T312I	NAA35_uc004aoj.3_Missense_Mutation_p.T312I	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	corneal wound healing-related protein	312					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)	1														0.26738	119.900291	128.958113	50	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88611371	88611371	10518	9	C	T	T	T	234	18	NAA35	2	2
IL1RAPL2	26280	broad.mit.edu	37	X	105011010	105011010	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105011010G>A	uc004elz.1	+	c.1417G>A	c.(1417-1419)GTG>ATG	p.V473M		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	473	Cytoplasmic (Potential).|TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3														0.052632	-19.324591	16.848824	9	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105011010	105011010	7963	23	G	A	A	A	520	40	IL1RAPL2	1	1
PAK3	5063	broad.mit.edu	37	X	110366488	110366488	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110366488C>A	uc010npv.1	+	c.157C>A	c.(157-159)CCA>ACA	p.P53T	PAK3_uc010npt.1_Missense_Mutation_p.P53T|PAK3_uc010npu.1_Missense_Mutation_p.P53T|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.P53T|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.P53T|PAK3_uc004epa.2_Missense_Mutation_p.P53T	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform b	53					multicellular organismal development|protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.P53T(1)		lung(5)|ovary(3)|large_intestine(1)	9										137	TSP Lung(19;0.15)			0.708661	278.17624	283.122904	90	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110366488	110366488	11818	23	C	A	A	A	286	22	PAK3	2	2
ZCCHC16	340595	broad.mit.edu	37	X	111698093	111698093	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111698093C>T	uc004epo.1	+	c.137C>T	c.(136-138)GCC>GTC	p.A46V		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	46							nucleic acid binding|zinc ion binding			ovary(1)	1														0.391304	191.210853	193.128258	72	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111698093	111698093	18172	23	C	T	T	T	338	26	ZCCHC16	2	2
DCAF12L2	340578	broad.mit.edu	37	X	125299348	125299348	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125299348A>T	uc004euk.1	-	c.560T>A	c.(559-561)CTG>CAG	p.L187Q		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	187	WD 1.									lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.707317	92.475933	94.050878	29	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125299348	125299348	4436	23	A	T	T	T	91	7	DCAF12L2	3	3
SAGE1	55511	broad.mit.edu	37	X	134989101	134989101	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134989101C>A	uc004ezh.2	+	c.753C>A	c.(751-753)TAC>TAA	p.Y251*	SAGE1_uc010nry.1_Nonsense_Mutation_p.Y220*|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	251										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.691057	286.613281	290.612563	85	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134989101	134989101	14289	23	C	A	A	A	220	17	SAGE1	5	2
SLITRK2	84631	broad.mit.edu	37	X	144904540	144904540	+	Silent	SNP	T	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904540T>C	uc004fcd.2	+	c.597T>C	c.(595-597)GCT>GCC	p.A199A	SLITRK2_uc010nsp.2_Silent_p.A199A|SLITRK2_uc010nso.2_Silent_p.A199A|SLITRK2_uc011mwq.1_Silent_p.A199A|SLITRK2_uc011mwr.1_Silent_p.A199A|SLITRK2_uc011mws.1_Silent_p.A199A|SLITRK2_uc004fcg.2_Silent_p.A199A|SLITRK2_uc011mwt.1_Silent_p.A199A	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	199	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.761006	396.581756	406.44638	121	38	KEEP	---	---	---	---	capture		Silent	SNP	144904540	144904540	15241	23	T	C	C	C	704	55	SLITRK2	4	4
GLRA2	2742	broad.mit.edu	37	X	14548187	14548187	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14548187G>T	uc010nep.2	+	c.8G>T	c.(7-9)CGG>CTG	p.R3L	GLRA2_uc010neq.2_Missense_Mutation_p.R3L|GLRA2_uc004cwe.3_Missense_Mutation_p.R3L|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_5'Flank	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	3					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)									0.621359	220.524621	221.856833	64	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14548187	14548187	6723	23	G	T	T	T	507	39	GLRA2	1	1
PASD1	139135	broad.mit.edu	37	X	150828258	150828258	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150828258C>A	uc004fev.3	+	c.791C>A	c.(790-792)TCA>TAA	p.S264*		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	264						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.042194	-35.360761	18.003202	10	227	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150828258	150828258	11888	23	C	A	A	A	377	29	PASD1	5	2
PCYT1B	9468	broad.mit.edu	37	X	24580619	24580619	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24580619G>T	uc004dbi.2	-	c.901C>A	c.(901-903)CAG>AAG	p.Q301K	PCYT1B_uc004dbk.3_Missense_Mutation_p.Q301K|PCYT1B_uc004dbj.2_Missense_Mutation_p.Q283K	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	301						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)									0.47619	30.84837	30.858752	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24580619	24580619	12032	23	G	T	T	T	598	46	PCYT1B	2	2
DCAF8L1	139425	broad.mit.edu	37	X	27997672	27997672	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27997672G>T	uc004dbx.1	-	c.1780C>A	c.(1780-1782)CGA>AGA	p.R594R		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	594										ovary(3)	3														0.594059	199.937063	200.727547	60	41	KEEP	---	---	---	---	capture		Silent	SNP	27997672	27997672	4448	23	G	T	T	T	480	37	DCAF8L1	1	1
DMD	1756	broad.mit.edu	37	X	32613934	32613934	+	Silent	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32613934C>T	uc004dda.1	-	c.1542G>A	c.(1540-1542)GTG>GTA	p.V514V	DMD_uc004dcz.2_Silent_p.V391V|DMD_uc004dcy.1_Silent_p.V510V|DMD_uc004ddb.1_Silent_p.V506V|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.V506V|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	514	Spectrin 2.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.545455	121.404908	121.523332	36	30	KEEP	---	---	---	---	capture		Silent	SNP	32613934	32613934	4760	23	C	T	T	T	262	21	DMD	2	2
CACNA1F	778	broad.mit.edu	37	X	49063215	49063215	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49063215C>A	uc004dnb.2	-	c.5366G>T	c.(5365-5367)CGC>CTC	p.R1789L	CACNA1F_uc010nip.2_Missense_Mutation_p.R1778L	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1789	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.344828	29.541903	30.158239	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49063215	49063215	2659	23	C	A	A	A	351	27	CACNA1F	1	1
HUWE1	10075	broad.mit.edu	37	X	53615428	53615428	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53615428C>T	uc004dsp.2	-	c.4528G>A	c.(4528-4530)GTG>ATG	p.V1510M	HUWE1_uc004dsn.2_Missense_Mutation_p.V335M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1510					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														0.5	15.574967	15.574967	5	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53615428	53615428	7761	23	C	T	T	T	247	19	HUWE1	1	1
ITIH5L	347365	broad.mit.edu	37	X	54780164	54780164	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54780164G>T	uc004dtj.2	-	c.3272C>A	c.(3271-3273)CCA>CAA	p.P1091Q		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1091					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5										249				0.467742	86.942243	87.000393	29	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54780164	54780164	8212	23	G	T	T	T	611	47	ITIH5L	2	2
ITIH5L	347365	broad.mit.edu	37	X	54784971	54784971	+	Silent	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54784971G>T	uc004dtj.2	-	c.1536C>A	c.(1534-1536)GGC>GGA	p.G512G		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	512					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5										249				0.54717	87.762764	87.865786	29	24	KEEP	---	---	---	---	capture		Silent	SNP	54784971	54784971	8212	23	G	T	T	T	587	46	ITIH5L	2	2
MAGED2	10916	broad.mit.edu	37	X	54839579	54839579	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54839579G>T	uc004dtk.1	+	c.1194G>T	c.(1192-1194)TTG>TTT	p.L398F	MAGED2_uc004dtl.1_Missense_Mutation_p.L398F|MAGED2_uc004dtm.1_Missense_Mutation_p.L313F|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Missense_Mutation_p.L398F|MAGED2_uc004dto.1_Missense_Mutation_p.L372F|SNORA11_uc004dtp.1_5'Flank	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	398	MAGE.									ovary(2)|breast(1)	3														0.598361	234.183633	235.213204	73	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54839579	54839579	9565	23	G	T	T	T	607	47	MAGED2	2	2
SHOX	6473	broad.mit.edu	37	X	595436	595436	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:595436C>G	uc004cph.1	+	c.361C>G	c.(361-363)CGC>GGC	p.R121G	SHOX_uc004cpi.2_Missense_Mutation_p.R121G	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	121	Homeobox.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				Ovarian(95;18 1419 12424 14056 28266)								0.555556	17.476803	17.501169	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	595436	595436	14783	23	C	G	G	G	299	23	SHOX	3	3
STARD8	9754	broad.mit.edu	37	X	67937593	67937593	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67937593G>T	uc004dxb.2	+	c.837G>T	c.(835-837)GAG>GAT	p.E279D	STARD8_uc004dxa.2_Missense_Mutation_p.E199D|STARD8_uc004dxc.3_Missense_Mutation_p.E199D	NM_001142503	NP_001135975	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	199					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.571429	31.471163	31.564511	12	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67937593	67937593	15782	23	G	T	T	T	451	35	STARD8	2	2
NAP1L2	4674	broad.mit.edu	37	X	72433167	72433167	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:72433167C>A	uc004ebi.2	-	c.1162G>T	c.(1162-1164)GAT>TAT	p.D388Y	NAP1L2_uc011mqj.1_Missense_Mutation_p.D246Y	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	388					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)													0.061728	-6.797554	9.447389	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72433167	72433167	10553	23	C	A	A	A	377	29	NAP1L2	2	2
P2RY10	27334	broad.mit.edu	37	X	78216603	78216603	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78216603G>C	uc004ede.2	+	c.586G>C	c.(586-588)GTC>CTC	p.V196L	P2RY10_uc004edf.2_Missense_Mutation_p.V196L	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	196	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)	3														0.537879	250.647264	250.806053	71	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78216603	78216603	11760	23	G	C	C	C	572	44	P2RY10	3	3
KAL1	3730	broad.mit.edu	37	X	8565262	8565262	+	Silent	SNP	G	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:8565262G>A	uc004csf.2	-	c.354C>T	c.(352-354)ACC>ACT	p.T118T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	118					axon guidance|cell adhesion|cellular component movement	cell surface|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4														0.448276	41.918145	41.977374	13	16	KEEP	---	---	---	---	capture		Silent	SNP	8565262	8565262	8278	23	G	A	A	A	600	47	KAL1	2	2
KLHL4	56062	broad.mit.edu	37	X	86880740	86880740	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86880740C>A	uc004efa.2	+	c.1268C>A	c.(1267-1269)CCT>CAT	p.P423H	KLHL4_uc004efb.2_Missense_Mutation_p.P423H	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 2	423						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.521739	76.100364	76.119186	24	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86880740	86880740	8705	23	C	A	A	A	312	24	KLHL4	2	2
C12orf56	115749	broad.mit.edu	37	12	64746735	64746736	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64746735_64746736insT	uc001ssa.3	-	c.353_354insA	c.(352-354)AAGfs	p.K118fs		NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	118											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)										0.40			30	45		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	64746735	64746736	1744	12	-	T	T	T	259	20	C12orf56	5	5
CDH3	1001	broad.mit.edu	37	16	68721564	68721564	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68721564_68721564delC	uc002ewf.2	+	c.1720_1720delC	c.(1720-1722)CCCfs	p.P574fs	CDH3_uc010vli.1_Frame_Shift_Del_p.P519fs	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	574	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)	3		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)						243				0.49			41	42		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	68721564	68721564	3240	16	C	-	-	-	390	30	CDH3	5	5
ZNF648	127665	broad.mit.edu	37	1	182025530	182025530	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182025530_182025530delT	uc001goz.2	-	c.1616_1616delA	c.(1615-1617)CAGfs	p.Q539fs		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	539	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						NSCLC(71;908 1374 5429 20458 35642)								0.47			34	38		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	182025530	182025530	18658	1	T	-	-	-	715	55	ZNF648	5	5
DISC1	27185	broad.mit.edu	37	1	232144741	232144742	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232144741_232144742insT	uc001huz.2	+	c.2253_2254insT	c.(2251-2256)GAATGGfs	p.E751fs	TSNAX-DISC1_uc010pwl.1_Non-coding_Transcript|DISC1_uc010pxd.1_Frame_Shift_Ins_p.E396fs|DISC1_uc010pxe.1_Frame_Shift_Ins_p.E751fs|DISC1_uc009xfr.2_Frame_Shift_Ins_p.E706fs|DISC1_uc010pxf.1_3'UTR|DISC1_uc010pxg.1_3'UTR|DISC1_uc010pxh.1_Frame_Shift_Ins_p.E783fs|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Intron|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.1_Frame_Shift_Ins_p.E629fs|DISC1_uc010pxn.1_Frame_Shift_Ins_p.E396fs|DISC1_uc001hva.2_Intron	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	751_752	Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding				0		all_cancers(173;0.0208)|Prostate(94;0.0975)												0.35			69	126		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	232144741	232144742	4717	1	-	T	T	T	50	4	DISC1	5	5
RIMS4	140730	broad.mit.edu	37	20	43384785	43384786	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43384785_43384786delTC	uc010ggu.2	-	c.802_803delGA	c.(802-804)GAAfs	p.E268fs	RIMS4_uc002xms.2_Frame_Shift_Del_p.E267fs	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	267					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)												0.49			116	122		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	43384785	43384786	13847	20	TC	-	-	-	806	62	RIMS4	5	5
CCDC108	255101	broad.mit.edu	37	2	219888835	219888835	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219888835_219888835delC	uc002vjl.1	-	c.2497_2497delG	c.(2497-2499)GCCfs	p.A833fs		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	833						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)										0.42			27	37		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	219888835	219888835	2863	2	C	-	-	-	338	26	CCDC108	5	5
CMYA5	202333	broad.mit.edu	37	5	79027059	79027060	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79027059_79027060insA	uc003kgc.2	+	c.2471_2472insA	c.(2470-2472)CCAfs	p.P824fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	824						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)										0.49			114	118		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	79027059	79027060	3728	5	-	A	A	A	273	21	CMYA5	5	5
SAGE1	55511	broad.mit.edu	37	X	134987455	134987455	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z046-01	TCGA-17-Z046-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134987455_134987455delG	uc004ezh.2	+	c.358_358delG	c.(358-360)GGCfs	p.G120fs	SAGE1_uc010nry.1_Frame_Shift_Del_p.G89fs|SAGE1_uc011mvv.1_Frame_Shift_Del_p.G120fs	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	120										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.64			76	42		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	134987455	134987455	14289	23	G	-	-	-	611	47	SAGE1	5	5
