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
SORCS1	114815	broad.mit.edu	37	10	108434828	108434828	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108434828C>A	uc001kyl.2	-	c.1919G>T	c.(1918-1920)GGA>GTA	p.G640V	SORCS1_uc001kym.2_Missense_Mutation_p.G640V|SORCS1_uc009xxs.2_Missense_Mutation_p.G640V|SORCS1_uc001kyn.1_Missense_Mutation_p.G640V|SORCS1_uc001kyo.2_Missense_Mutation_p.G640V	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	640	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.172414	16.42436	22.301781	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108434828	108434828	15430	10	C	A	A	A	390	30	SORCS1	2	2
PDCD4	27250	broad.mit.edu	37	10	112641182	112641182	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112641182G>T	uc001kzh.2	+	c.235G>T	c.(235-237)GAC>TAC	p.D79Y	PDCD4_uc001kzg.2_Missense_Mutation_p.D68Y|PDCD4_uc010qre.1_Missense_Mutation_p.D65Y	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	79				D -> E (in Ref. 1; AAB42218).	apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		Ovarian(115;1498 1603 9363 40056 40885)								0.37931	32.728688	33.095154	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112641182	112641182	12042	10	G	T	T	T	481	37	PDCD4	1	1
PDCD4	27250	broad.mit.edu	37	10	112655755	112655755	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112655755C>T	uc001kzh.2	+	c.1259C>T	c.(1258-1260)CCA>CTA	p.P420L	PDCD4_uc001kzg.2_Missense_Mutation_p.P409L|PDCD4_uc010qre.1_Missense_Mutation_p.P406L	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	420	MI 2.			P->A: Strongly reduced interaction with EIF4A1. Strongly reduced inhibition of translation.	apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		Ovarian(115;1498 1603 9363 40056 40885)								0.230769	15.03563	16.763272	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112655755	112655755	12042	10	C	T	T	T	273	21	PDCD4	2	2
C10orf96	374355	broad.mit.edu	37	10	118101594	118101594	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118101594A>C	uc001lck.2	+	c.329A>C	c.(328-330)AAG>ACG	p.K110T		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	110										ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)										0.75	28.277234	28.957632	9	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118101594	118101594	1664	10	A	C	C	C	39	3	C10orf96	4	4
PNLIPRP3	119548	broad.mit.edu	37	10	118220564	118220564	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118220564C>A	uc001lcl.3	+	c.652C>A	c.(652-654)CAT>AAT	p.H218N		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	218					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)										0.37931	30.518313	30.888701	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118220564	118220564	12578	10	C	A	A	A	377	29	PNLIPRP3	2	2
PNLIPRP1	5407	broad.mit.edu	37	10	118359630	118359630	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118359630G>A	uc001lco.1	+	c.886G>A	c.(886-888)GAT>AAT	p.D296N	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.D296N	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	296					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)										0.509804	83.350552	83.355086	26	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118359630	118359630	12576	10	G	A	A	A	481	37	PNLIPRP1	1	1
SLC18A2	6571	broad.mit.edu	37	10	119003683	119003684	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119003683_119003684CC>AA	uc001ldd.1	+	c.323_324CC>AA	c.(322-324)ACC>AAA	p.T108K	SLC18A2_uc009xyy.1_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	108	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)									0.272727	15.54056	16.564681	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	119003683	119003684	14922	10	CC	AA	AA	AA	234	18	SLC18A2	2	2
SLC18A2	6571	broad.mit.edu	37	10	119027183	119027183	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119027183G>T	uc001ldd.1	+	c.1123_splice	c.e13-1	p.I375_splice	SLC18A2_uc009xyy.1_Splice_Site_SNP_p.I172_splice	NM_003054	NP_003045			solute carrier family 18 (vesicular monoamine),						neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)									0.555556	16.17569	16.199816	5	4	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	119027183	119027183	14922	10	G	T	T	T	429	33	SLC18A2	5	2
GRK5	2869	broad.mit.edu	37	10	121212278	121212278	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:121212278C>G	uc001led.2	+	c.1500C>G	c.(1498-1500)TCC>TCG	p.S500S	GRK5_uc009xzh.2_Silent_p.S365S	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	500	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|protein phosphorylation|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)	2		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)						989				0.428571	9.023664	9.05485	3	4	KEEP	---	---	---	---	capture		Silent	SNP	121212278	121212278	7071	10	C	G	G	G	262	21	GRK5	3	3
C10orf137	26098	broad.mit.edu	37	10	127408432	127408432	+	Missense_Mutation	SNP	G	C	C	rs61742141		TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127408432G>C	uc001liq.1	+	c.56G>C	c.(55-57)CGA>CCA	p.R19P	C10orf137_uc001lin.2_Missense_Mutation_p.R19P|C10orf137_uc001lio.1_Missense_Mutation_p.R19P|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)	8		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)												1	12.348842	12.231031	3	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127408432	127408432	1631	10	G	C	C	C	481	37	C10orf137	3	3
SUV39H2	79723	broad.mit.edu	37	10	14938888	14938888	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:14938888C>T	uc001inh.2	+	c.41C>T	c.(40-42)TCT>TTT	p.S14F	SUV39H2_uc001ing.2_Missense_Mutation_p.S74F|SUV39H2_uc001ini.2_Missense_Mutation_p.S14F|SUV39H2_uc001inj.2_Missense_Mutation_p.S14F	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	74	Chromo.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3														0.315789	34.885491	36.032861	12	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14938888	14938888	15933	10	C	T	T	T	416	32	SUV39H2	2	2
FAM171A1	221061	broad.mit.edu	37	10	15256254	15256254	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15256254C>A	uc001iob.2	-	c.1333G>T	c.(1333-1335)GAT>TAT	p.D445Y		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	445	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)	3														0.473684	27.973353	27.984836	9	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15256254	15256254	5695	10	C	A	A	A	377	29	FAM171A1	2	2
CUBN	8029	broad.mit.edu	37	10	17142110	17142110	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17142110G>A	uc001ioo.2	-	c.1659C>T	c.(1657-1659)CTC>CTT	p.L553L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	553	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.315789	32.189684	33.33484	12	26	KEEP	---	---	---	---	capture		Silent	SNP	17142110	17142110	4211	10	G	A	A	A	522	41	CUBN	2	2
ARMC3	219681	broad.mit.edu	37	10	23270286	23270286	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23270286T>A	uc001irm.3	+	c.934T>A	c.(934-936)TTT>ATT	p.F312I	ARMC3_uc010qcv.1_Missense_Mutation_p.F312I|ARMC3_uc010qcw.1_Missense_Mutation_p.F49I	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	312	ARM 8.						binding				0														0.45	25.368769	25.412745	9	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23270286	23270286	970	10	T	A	A	A	832	64	ARMC3	3	3
GPR158	57512	broad.mit.edu	37	10	25887316	25887316	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25887316C>A	uc001isj.2	+	c.2761C>A	c.(2761-2763)CAA>AAA	p.Q921K	GPR158_uc001isk.2_Missense_Mutation_p.Q296K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	921	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.324873	179.02758	184.391567	64	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25887316	25887316	6938	10	C	A	A	A	273	21	GPR158	2	2
ZNF33A	7581	broad.mit.edu	37	10	38343873	38343873	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:38343873A>T	uc010qev.1	+	c.839A>T	c.(838-840)CAC>CTC	p.H280L	ZNF33A_uc001izg.2_Missense_Mutation_p.H274L|ZNF33A_uc001izh.2_Missense_Mutation_p.H273L|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	273					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3														0.310345	53.530979	55.387929	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38343873	38343873	18446	10	A	T	T	T	78	6	ZNF33A	3	3
FRMPD2	143162	broad.mit.edu	37	10	49420032	49420032	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:49420032G>C	uc001jgi.2	-	c.1576C>G	c.(1576-1578)CTG>GTG	p.L526V	FRMPD2_uc001jgh.2_Missense_Mutation_p.L494V|FRMPD2_uc001jgj.2_Missense_Mutation_p.L504V	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	526	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)										0.172414	11.156258	14.096692	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49420032	49420032	6308	10	G	C	C	C	464	36	FRMPD2	3	3
C10orf71	118461	broad.mit.edu	37	10	50531881	50531881	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50531881G>T	uc010qgp.1	+	c.1291G>T	c.(1291-1293)GTG>TTG	p.V431L		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	431											0														0.723577	305.033938	310.583374	89	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50531881	50531881	1651	10	G	T	T	T	624	48	C10orf71	2	2
SLC18A3	6572	broad.mit.edu	37	10	50819863	50819863	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50819863C>A	uc001jhw.2	+	c.1077C>A	c.(1075-1077)TAC>TAA	p.Y359*	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	359	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(1)	1														0.136364	4.712732	7.527288	3	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50819863	50819863	14923	10	C	A	A	A	246	19	SLC18A3	5	1
OGDHL	55753	broad.mit.edu	37	10	50952077	50952077	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50952077G>T	uc009xog.2	-	c.1905C>A	c.(1903-1905)GCC>GCA	p.A635A	OGDHL_uc001jie.2_Silent_p.A608A|OGDHL_uc010qgt.1_Silent_p.A551A|OGDHL_uc010qgu.1_Silent_p.A399A|OGDHL_uc009xoh.2_Silent_p.A399A	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	608					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.208333	11.565578	13.453462	5	19	KEEP	---	---	---	---	capture		Silent	SNP	50952077	50952077	11245	10	G	T	T	T	600	47	OGDHL	2	2
MBL2	4153	broad.mit.edu	37	10	54530522	54530522	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:54530522C>T	uc001jjt.2	-	c.212G>A	c.(211-213)GGC>GAC	p.G71D		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	71	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1														0.05102	-11.237762	9.622333	5	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54530522	54530522	9738	10	C	T	T	T	338	26	MBL2	2	2
CDK1	983	broad.mit.edu	37	10	62551691	62551691	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:62551691C>T	uc001jld.2	+	c.533C>T	c.(532-534)TCA>TTA	p.S178L	CDK1_uc001jle.2_Non-coding_Transcript|CDK1_uc001jlf.2_Missense_Mutation_p.S178L|CDK1_uc001jlg.2_Missense_Mutation_p.S121L	NM_001786	NP_001777	P06493	CDK1_HUMAN	cell division cycle 2 isoform 1	178	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1									p.S178L(OE19-Tumor)	52				0.277778	13.56688	14.366877	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62551691	62551691	3253	10	C	T	T	T	377	29	CDK1	2	2
UNC5B	219699	broad.mit.edu	37	10	73048446	73048446	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73048446G>T	uc001jro.2	+	c.1023G>T	c.(1021-1023)ACG>ACT	p.T341T	UNC5B_uc001jrp.2_Silent_p.T341T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	341	TSP type-1 2.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3														0.444444	24.797972	24.846323	8	10	KEEP	---	---	---	---	capture		Silent	SNP	73048446	73048446	17550	10	G	T	T	T	483	38	UNC5B	1	1
TTC18	118491	broad.mit.edu	37	10	75059368	75059368	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75059368G>A	uc009xrc.2	-	c.1522C>T	c.(1522-1524)CAG>TAG	p.Q508*	TTC18_uc001jty.2_Nonsense_Mutation_p.Q508*|TTC18_uc009xrd.1_Nonsense_Mutation_p.Q322*|TTC18_uc001jtx.2_5'Flank	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	508							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)													0.236842	22.156283	24.561126	9	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75059368	75059368	17239	10	G	A	A	A	585	45	TTC18	5	2
SH2D4B	387694	broad.mit.edu	37	10	82331308	82331308	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:82331308G>C	uc001kck.1	+	c.469G>C	c.(469-471)GAG>CAG	p.E157Q	SH2D4B_uc001kcl.1_Missense_Mutation_p.E108Q	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	156	Glu-rich.										0			Colorectal(32;0.229)											0.22	29.299642	32.908055	11	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82331308	82331308	14727	10	G	C	C	C	533	41	SH2D4B	3	3
FAM35A	54537	broad.mit.edu	37	10	88911685	88911685	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88911685G>A	uc001kei.3	+	c.574G>A	c.(574-576)GAA>AAA	p.E192K		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	192										ovary(2)	2						Ovarian(175;703 2004 25460 32514 43441)								0.128205	5.747609	11.004155	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88911685	88911685	5773	10	G	A	A	A	585	45	FAM35A	2	2
PTEN	5728	broad.mit.edu	37	10	89720851	89720851	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89720851C>G	uc001kfb.2	+	c.1002C>G	c.(1000-1002)AAC>AAG	p.N334K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	334	C2 tensin-type.			KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)				31	p.N334N(REH-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.345238	90.045775	91.824152	29	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89720851	89720851	13192	10	C	G	G	G	233	18	PTEN	3	3
PDLIM1	9124	broad.mit.edu	37	10	97028535	97028535	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97028535C>G	uc001kkh.2	-	c.333G>C	c.(331-333)CAG>CAC	p.Q111H	PDLIM1_uc001kki.2_Missense_Mutation_p.Q111H|PDLIM1_uc009xuv.2_Missense_Mutation_p.Q111H|PDLIM1_uc001kkj.1_Missense_Mutation_p.Q111H	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	111					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)										0.102041	3.135575	10.876531	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97028535	97028535	12100	10	C	G	G	G	311	24	PDLIM1	3	3
PIK3AP1	118788	broad.mit.edu	37	10	98380187	98380187	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98380187G>T	uc001kmq.2	-	c.1863C>A	c.(1861-1863)AAC>AAA	p.N621K	PIK3AP1_uc001kmo.2_Missense_Mutation_p.N220K|PIK3AP1_uc001kmp.2_Missense_Mutation_p.N443K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	621						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)										0.148936	13.996857	19.551206	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98380187	98380187	12332	10	G	T	T	T	516	40	PIK3AP1	1	1
DYNC2H1	79659	broad.mit.edu	37	11	103178455	103178455	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103178455G>C	uc001phn.1	+	c.11409G>C	c.(11407-11409)TTG>TTC	p.L3803F	DYNC2H1_uc001pho.2_Missense_Mutation_p.L3796F|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3796	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)										0.2	10.588115	12.262294	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103178455	103178455	5032	11	G	C	C	C	581	45	DYNC2H1	3	3
GRIA4	2893	broad.mit.edu	37	11	105774684	105774684	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:105774684G>T	uc001pix.2	+	c.1030G>T	c.(1030-1032)GAC>TAC	p.D344Y	GRIA4_uc001piu.1_Missense_Mutation_p.D344Y|GRIA4_uc001piw.2_Missense_Mutation_p.D344Y|GRIA4_uc009yxk.1_Missense_Mutation_p.D344Y	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	344	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)									0.272727	37.797387	40.36074	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105774684	105774684	7048	11	G	T	T	T	585	45	GRIA4	2	2
CUL5	8065	broad.mit.edu	37	11	107975024	107975024	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107975024G>C	uc001pjv.2	+	c.2256G>C	c.(2254-2256)ATG>ATC	p.M752I	CUL5_uc001pju.2_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	752					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)										0.357143	48.713015	49.468178	15	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107975024	107975024	4219	11	G	C	C	C	585	45	CUL5	3	3
RNF214	257160	broad.mit.edu	37	11	117109467	117109468	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117109467_117109468GG>TT	uc001pqt.2	+	c.258_259GG>TT	c.(256-261)CAGGTG>CATTTG	p.86_87QV>HL	RNF214_uc001pqu.2_Missense_Mutation_p.86_87QV>HL|RNF214_uc010rxf.1_Intron	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	86_87							zinc ion binding				0	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)										0.325	73.422444	75.596487	26	54	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	117109467	117109468	13956	11	GG	TT	TT	TT	451	35	RNF214	2	2
TRIM29	23650	broad.mit.edu	37	11	119998058	119998058	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119998058C>A	uc001pwz.2	-	c.1120G>T	c.(1120-1122)GTG>TTG	p.V374L	TRIM29_uc010rzi.1_Missense_Mutation_p.V113L|TRIM29_uc010rzj.1_Missense_Mutation_p.V107L|TRIM29_uc001pxa.2_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	374					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)	3		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)										0.555556	16.275782	16.299935	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119998058	119998058	17047	11	C	A	A	A	221	17	TRIM29	2	2
CRTAM	56253	broad.mit.edu	37	11	122738153	122738153	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122738153A>T	uc001pyj.2	+	c.854A>T	c.(853-855)AAA>ATA	p.K285I	CRTAM_uc001pyk.2_Missense_Mutation_p.K86I	NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	285	Extracellular (Potential).				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)										0.222222	9.090193	10.368182	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122738153	122738153	4036	11	A	T	T	T	13	1	CRTAM	3	3
OR8B2	26595	broad.mit.edu	37	11	124252597	124252597	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124252597G>A	uc010sai.1	-	c.643C>T	c.(643-645)CTC>TTC	p.L215F		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.539474	139.278416	139.381107	41	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124252597	124252597	11638	11	G	A	A	A	455	35	OR8B2	2	2
OR8B8	26493	broad.mit.edu	37	11	124310951	124310951	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124310951G>T	uc010sal.1	-	c.31C>A	c.(31-33)CAG>AAG	p.Q11K		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.604651	84.957779	85.370408	26	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124310951	124310951	11641	11	G	T	T	T	624	48	OR8B8	2	2
SLC37A2	219855	broad.mit.edu	37	11	124955343	124955343	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124955343C>A	uc010sau.1	+	c.1301C>A	c.(1300-1302)GCC>GAC	p.A434D	SLC37A2_uc001qbn.2_Missense_Mutation_p.A434D|SLC37A2_uc010sav.1_Missense_Mutation_p.A59D|SLC37A2_uc001qbp.2_Missense_Mutation_p.A59D	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	434	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		Melanoma(11;373 620 21213 26083 47768)								0.363636	11.296688	11.47678	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124955343	124955343	15095	11	C	A	A	A	338	26	SLC37A2	2	2
OPCML	4978	broad.mit.edu	37	11	132306119	132306119	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132306119A>T	uc010sck.1	-	c.798T>A	c.(796-798)GGT>GGA	p.G266G	OPCML_uc001qgu.2_Silent_p.G259G|OPCML_uc001qgs.2_Silent_p.G266G|OPCML_uc001qgt.2_Silent_p.G265G|OPCML_uc010scl.1_Silent_p.G225G	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	266	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)	2	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)										0.414286	83.565565	84.013589	29	41	KEEP	---	---	---	---	capture		Silent	SNP	132306119	132306119	11280	11	A	T	T	T	119	10	OPCML	3	3
ABCC8	6833	broad.mit.edu	37	11	17483340	17483340	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17483340C>T	uc001mnc.2	-	c.612G>A	c.(610-612)GTG>GTA	p.V204V	ABCC8_uc010rcy.1_Silent_p.V204V	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	204	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.303371	68.794603	71.864082	27	62	KEEP	---	---	---	---	capture		Silent	SNP	17483340	17483340	59	11	C	T	T	T	366	29	ABCC8	2	2
IGSF22	283284	broad.mit.edu	37	11	18732226	18732226	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18732226G>T	uc009yht.2	-	c.2548C>A	c.(2548-2550)CCA>ACA	p.P850T	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	848	Fibronectin type-III 2.									ovary(4)|large_intestine(2)|kidney(1)	7														0.204082	20.688368	24.62347	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18732226	18732226	7901	11	G	T	T	T	546	42	IGSF22	2	2
MRGPRX2	117194	broad.mit.edu	37	11	19077787	19077787	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:19077787G>A	uc001mph.2	-	c.163C>T	c.(163-165)CTG>TTG	p.L55L		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	55	Cytoplasmic (Potential).				sensory perception of pain|sleep	integral to membrane|plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GBM(198;1966 2199 4849 37227 49954)								0.242424	80.437613	88.421829	32	100	KEEP	---	---	---	---	capture		Silent	SNP	19077787	19077787	10160	11	G	A	A	A	451	35	MRGPRX2	2	2
SLC6A5	9152	broad.mit.edu	37	11	20652351	20652351	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20652351G>C	uc001mqd.2	+	c.1614G>C	c.(1612-1614)GTG>GTC	p.V538V	SLC6A5_uc009yic.2_Silent_p.V303V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	538					synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.3	35.801901	37.591178	15	35	KEEP	---	---	---	---	capture		Silent	SNP	20652351	20652351	15184	11	G	C	C	C	600	47	SLC6A5	3	3
ANO5	203859	broad.mit.edu	37	11	22232823	22232823	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22232823G>C	uc001mqi.2	+	c.101G>C	c.(100-102)AGC>ACC	p.S34T	ANO5_uc001mqj.2_Missense_Mutation_p.S33T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	34	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.175758	61.142972	77.581999	29	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22232823	22232823	708	11	G	C	C	C	442	34	ANO5	3	3
FANCF	2188	broad.mit.edu	37	11	22647320	22647320	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22647320C>A	uc001mql.1	-	c.37G>T	c.(37-39)GAG>TAG	p.E13*		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	13					DNA repair	nucleoplasm	protein binding			skin(1)	1										52				0.181818	12.730456	15.869129	6	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22647320	22647320	5903	11	C	A	A	A	403	31	FANCF	5	1
LUZP2	338645	broad.mit.edu	37	11	25004696	25004696	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:25004696G>A	uc001mqs.2	+	c.622G>A	c.(622-624)GAG>AAG	p.E208K	LUZP2_uc009yif.2_Missense_Mutation_p.E122K|LUZP2_uc009yig.2_Missense_Mutation_p.E166K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	208	Potential.					extracellular region				ovary(1)	1														0.257485	111.042007	119.947914	43	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25004696	25004696	9463	11	G	A	A	A	429	33	LUZP2	2	2
MPPED2	744	broad.mit.edu	37	11	30435856	30435856	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30435856T>A	uc001msr.2	-	c.685A>T	c.(685-687)AGA>TGA	p.R229*	MPPED2_uc001msq.3_Nonsense_Mutation_p.R229*|MPPED2_uc009yji.2_Nonsense_Mutation_p.R103*	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	229					nervous system development		hydrolase activity|metal ion binding			skin(1)	1										119				0.245614	35.523313	38.881344	14	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30435856	30435856	10134	11	T	A	A	A	726	56	MPPED2	5	3
DCDC1	341019	broad.mit.edu	37	11	31327812	31327812	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31327812G>T	uc001msv.2	-	c.558C>A	c.(556-558)GTC>GTA	p.V186V	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	186	Doublecortin.				intracellular signal transduction						0	Lung SC(675;0.225)													0.25	21.756115	23.80259	9	27	KEEP	---	---	---	---	capture		Silent	SNP	31327812	31327812	4455	11	G	T	T	T	418	33	DCDC1	2	2
C11orf41	25758	broad.mit.edu	37	11	33682438	33682438	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33682438C>A	uc001mup.3	+	c.5164C>A	c.(5164-5166)CCA>ACA	p.P1722T		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1716						integral to membrane				ovary(2)	2														0.529412	28.67561	28.68838	9	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33682438	33682438	1679	11	C	A	A	A	286	22	C11orf41	2	2
ACCS	84680	broad.mit.edu	37	11	44092856	44092856	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44092856G>C	uc009yks.1	+	c.339G>C	c.(337-339)CTG>CTC	p.L113L	ACCS_uc010rfm.1_Silent_p.L40L|ACCS_uc010rfn.1_Silent_p.L113L|ACCS_uc001mxx.2_Silent_p.L113L	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	113							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						Esophageal Squamous(158;148 1889 8077 23160 41213)								0.261261	84.327018	90.050615	29	82	KEEP	---	---	---	---	capture		Silent	SNP	44092856	44092856	134	11	G	C	C	C	613	48	ACCS	3	3
TP53I11	9537	broad.mit.edu	37	11	44958879	44958879	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44958879C>A	uc001myi.2	-	c.213G>T	c.(211-213)GTG>GTT	p.V71V	TP53I11_uc001myf.1_Non-coding_Transcript|TP53I11_uc001myj.2_Silent_p.V71V|TP53I11_uc001myk.2_Silent_p.V71V|TP53I11_uc001myl.2_Silent_p.V71V|TP53I11_uc001mym.2_Silent_p.V18V	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	71	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1												OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.555556	16.176683	16.201063	5	4	KEEP	---	---	---	---	capture		Silent	SNP	44958879	44958879	16927	11	C	A	A	A	314	25	TP53I11	2	2
PRDM11	56981	broad.mit.edu	37	11	45117410	45117410	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45117410C>A	uc001myo.2	+	c.54C>A	c.(52-54)GCC>GCA	p.A18A		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	18											0						NSCLC(118;1511 1736 6472 36603 43224)								0.54	84.926196	84.995513	27	23	KEEP	---	---	---	---	capture		Silent	SNP	45117410	45117410	12894	11	C	A	A	A	301	24	PRDM11	2	2
SYT13	57586	broad.mit.edu	37	11	45265684	45265684	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45265684C>A	uc001myq.2	-	c.1200G>T	c.(1198-1200)TCG>TCT	p.S400S	SYT13_uc009yku.1_Silent_p.S256S	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	400	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1														0.129032	5.783454	9.933582	4	27	KEEP	---	---	---	---	capture		Silent	SNP	45265684	45265684	15990	11	C	A	A	A	288	23	SYT13	1	1
SYT13	57586	broad.mit.edu	37	11	45274052	45274052	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45274052C>T	uc001myq.2	-	c.766G>A	c.(766-768)GGG>AGG	p.G256R	SYT13_uc009yku.1_Missense_Mutation_p.G112R	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	256	Cytoplasmic (Potential).|C2 1.					transport vesicle				ovary(1)	1												OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.478261	103.474211	103.502161	33	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45274052	45274052	15990	11	C	T	T	T	299	23	SYT13	1	1
OR52M1	119772	broad.mit.edu	37	11	4567179	4567179	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4567179C>G	uc010qyf.1	+	c.759C>G	c.(757-759)ATC>ATG	p.I253M		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.554545	204.497788	204.773081	61	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4567179	4567179	11536	11	C	G	G	G	408	32	OR52M1	3	3
OR52R1	119695	broad.mit.edu	37	11	4825034	4825034	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4825034C>A	uc010qym.1	-	c.814G>T	c.(814-816)GCT>TCT	p.A272S		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.290698	66.239602	69.615653	25	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4825034	4825034	11541	11	C	A	A	A	325	25	OR52R1	2	2
OR52R1	119695	broad.mit.edu	37	11	4825412	4825412	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4825412C>T	uc010qym.1	-	c.436G>A	c.(436-438)GCC>ACC	p.A146T		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.236364	31.746356	35.241511	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4825412	4825412	11541	11	C	T	T	T	338	26	OR52R1	2	2
OR51T1	401665	broad.mit.edu	37	11	4903203	4903203	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4903203C>T	uc010qyp.1	+	c.155C>T	c.(154-156)GCT>GTT	p.A52V		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		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)										0.302083	157.370551	164.089162	58	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4903203	4903203	11516	11	C	T	T	T	364	28	OR51T1	2	2
OR4C13	283092	broad.mit.edu	37	11	49974755	49974755	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49974755G>T	uc010rhz.1	+	c.781G>T	c.(781-783)GCT>TCT	p.A261S		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.16	35.315998	49.08046	20	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49974755	49974755	11453	11	G	T	T	T	442	34	OR4C13	2	2
MMP26	56547	broad.mit.edu	37	11	5010972	5010972	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5010972G>A	uc001lzv.2	+	c.194G>A	c.(193-195)GGG>GAG	p.G65E		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	65					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)										0.269231	18.117332	19.364556	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5010972	5010972	10054	11	G	A	A	A	559	43	MMP26	2	2
OR52J3	119679	broad.mit.edu	37	11	5068179	5068179	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5068179G>T	uc010qyv.1	+	c.424G>T	c.(424-426)GTG>TTG	p.V142L		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.311475	54.102549	56.033184	19	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5068179	5068179	11532	11	G	T	T	T	468	36	OR52J3	2	2
OR4C46	119749	broad.mit.edu	37	11	51515606	51515606	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515606G>T	uc010ric.1	+	c.325G>T	c.(325-327)GAG>TAG	p.E109*		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.512195	127.547188	127.557663	42	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51515606	51515606	11458	11	G	T	T	T	429	33	OR4C46	5	2
OR52A1	23538	broad.mit.edu	37	11	5173040	5173040	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5173040A>G	uc010qyy.1	-	c.560T>C	c.(559-561)ATT>ACT	p.I187T		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	187	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.363636	48.989399	49.708687	16	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5173040	5173040	11518	11	A	G	G	G	52	4	OR52A1	4	4
OR51B2	79345	broad.mit.edu	37	11	5344661	5344661	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5344661G>T	uc001mao.1	-	c.867C>A	c.(865-867)ATC>ATA	p.I289I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	289	Helical; Name=7; (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)										0.265625	42.849038	46.024077	17	47	KEEP	---	---	---	---	capture		Silent	SNP	5344661	5344661	11499	11	G	T	T	T	421	33	OR51B2	2	2
OR51I2	390064	broad.mit.edu	37	11	5475122	5475122	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5475122T>C	uc010qzf.1	+	c.404T>C	c.(403-405)GTG>GCG	p.V135A	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.260417	63.328733	68.320228	25	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5475122	5475122	11511	11	T	C	C	C	767	59	OR51I2	4	4
UBQLN3	50613	broad.mit.edu	37	11	5529428	5529428	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5529428C>A	uc001may.1	-	c.1361G>T	c.(1360-1362)AGG>ATG	p.R454M	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	454										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Ovarian(72;684 1260 12332 41642 52180)								0.142857	5.110239	7.691839	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5529428	5529428	17456	11	C	A	A	A	312	24	UBQLN3	2	2
OR4C15	81309	broad.mit.edu	37	11	55322043	55322043	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55322043C>A	uc010rig.1	+	c.261C>A	c.(259-261)TAC>TAA	p.Y87*		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.198198	104.276649	123.097007	44	178	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55322043	55322043	11454	11	C	A	A	A	220	17	OR4C15	5	2
OR4S2	219431	broad.mit.edu	37	11	55418786	55418786	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55418786G>A	uc001nhs.1	+	c.407G>A	c.(406-408)CGG>CAG	p.R136Q		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.27907	169.321883	178.751368	60	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55418786	55418786	11493	11	G	A	A	A	507	39	OR4S2	1	1
OR5D18	219438	broad.mit.edu	37	11	55587546	55587546	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55587546G>T	uc010rin.1	+	c.441G>T	c.(439-441)GTG>GTT	p.V147V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.26506	113.837215	122.111745	44	122	KEEP	---	---	---	---	capture		Silent	SNP	55587546	55587546	11567	11	G	T	T	T	600	47	OR5D18	2	2
OR5L2	26338	broad.mit.edu	37	11	55595459	55595459	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55595459C>A	uc001nhy.1	+	c.765C>A	c.(763-765)ATC>ATA	p.I255I		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.220183	49.037771	56.928092	24	85	KEEP	---	---	---	---	capture		Silent	SNP	55595459	55595459	11581	11	C	A	A	A	382	30	OR5L2	2	2
OR5I1	10798	broad.mit.edu	37	11	55703457	55703457	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55703457C>A	uc010ris.1	-	c.420G>T	c.(418-420)AGG>AGT	p.R140S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.212766	44.047087	51.215909	20	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55703457	55703457	11574	11	C	A	A	A	285	22	OR5I1	2	2
OR8I2	120586	broad.mit.edu	37	11	55861152	55861152	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55861152C>A	uc010rix.1	+	c.369C>A	c.(367-369)TAC>TAA	p.Y123*		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)													0.315068	70.802284	73.021251	23	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55861152	55861152	11651	11	C	A	A	A	220	17	OR8I2	5	2
OR8I2	120586	broad.mit.edu	37	11	55861616	55861616	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55861616C>T	uc010rix.1	+	c.833C>T	c.(832-834)ACG>ATG	p.T278M		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)													0.162791	12.999668	17.645835	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55861616	55861616	11651	11	C	T	T	T	247	19	OR8I2	1	1
OR8K1	390157	broad.mit.edu	37	11	56113904	56113904	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56113904A>T	uc010rjg.1	+	c.390A>T	c.(388-390)GTA>GTT	p.V130V		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.262626	66.901788	71.950344	26	73	KEEP	---	---	---	---	capture		Silent	SNP	56113904	56113904	11654	11	A	T	T	T	184	15	OR8K1	3	3
OR5R1	219479	broad.mit.edu	37	11	56185018	56185018	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56185018T>A	uc010rji.1	-	c.691A>T	c.(691-693)ACT>TCT	p.T231S		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.564103	139.209092	139.488796	44	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56185018	56185018	11590	11	T	A	A	A	741	57	OR5R1	3	3
OR5M3	219482	broad.mit.edu	37	11	56237710	56237710	+	Silent	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56237710T>C	uc010rjk.1	-	c.264A>G	c.(262-264)AAA>AAG	p.K88K		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.095238	5.007912	15.361087	6	57	KEEP	---	---	---	---	capture		Silent	SNP	56237710	56237710	11585	11	T	C	C	C	829	64	OR5M3	4	4
OR5M1	390168	broad.mit.edu	37	11	56380351	56380351	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56380351A>C	uc001nja.1	-	c.628T>G	c.(628-630)TCT>GCT	p.S210A		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.05618	-8.399584	10.052911	5	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56380351	56380351	11582	11	A	C	C	C	143	11	OR5M1	4	4
PRG2	5553	broad.mit.edu	37	11	57155006	57155006	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57155006C>A	uc001njz.2	-	c.611G>T	c.(610-612)GGA>GTA	p.G204V	PRG2_uc001njw.1_Non-coding_Transcript|PRG2_uc001njx.1_Non-coding_Transcript|PRG2_uc001njy.1_Non-coding_Transcript|PRG2_uc001nka.2_Missense_Mutation_p.G204V|PRG2_uc001nkb.2_Missense_Mutation_p.G204V|PRG2_uc001nkd.2_Missense_Mutation_p.G193V|PRG2_uc001nkc.2_Missense_Mutation_p.G204V|PRG2_uc001nke.2_Missense_Mutation_p.G484V	NM_002728	NP_002719	P13727	PRG2_HUMAN	proteoglycan 2 preproprotein	204	C-type lectin.				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding			central_nervous_system(1)	1				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)	Sargramostim(DB00020)									0.548387	50.910127	50.980401	17	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57155006	57155006	12922	11	C	A	A	A	390	30	PRG2	2	2
OR1S2	219958	broad.mit.edu	37	11	57971443	57971443	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57971443G>T	uc010rkb.1	-	c.211C>A	c.(211-213)CCC>ACC	p.P71T		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.232877	37.739198	42.509692	17	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57971443	57971443	11379	11	G	T	T	T	559	43	OR1S2	2	2
OR10Q1	219960	broad.mit.edu	37	11	57995401	57995401	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57995401G>T	uc010rkd.1	-	c.947C>A	c.(946-948)TCT>TAT	p.S316Y		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.503425	444.523711	444.526767	147	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57995401	57995401	11322	11	G	T	T	T	429	33	OR10Q1	2	2
OR52E4	390081	broad.mit.edu	37	11	5906234	5906234	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5906234G>T	uc010qzs.1	+	c.712G>T	c.(712-714)GCC>TCC	p.A238S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	238	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.527778	114.341935	114.389906	38	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5906234	5906234	11526	11	G	T	T	T	546	42	OR52E4	2	2
OR5A1	219982	broad.mit.edu	37	11	59210886	59210886	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59210886C>A	uc001nnx.1	+	c.245C>A	c.(244-246)CCC>CAC	p.P82H		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	82	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.635762	307.83025	310.276729	96	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59210886	59210886	11549	11	C	A	A	A	286	22	OR5A1	2	2
OR4D9	390199	broad.mit.edu	37	11	59282863	59282863	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59282863A>T	uc010rkv.1	+	c.478A>T	c.(478-480)ATT>TTT	p.I160F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	160	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.327273	45.527178	46.984713	18	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59282863	59282863	11466	11	A	T	T	T	156	12	OR4D9	3	3
OR56A1	120796	broad.mit.edu	37	11	6048502	6048502	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6048502T>A	uc010qzw.1	-	c.433A>T	c.(433-435)AAT>TAT	p.N145Y		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	145	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.248062	75.93521	83.390958	32	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6048502	6048502	11543	11	T	A	A	A	793	61	OR56A1	3	3
CD6	923	broad.mit.edu	37	11	60777058	60777058	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60777058C>A	uc001nqq.2	+	c.796C>A	c.(796-798)CGC>AGC	p.R266S	CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Missense_Mutation_p.R266S|CD6_uc001nqr.2_Missense_Mutation_p.R266S|CD6_uc001nqs.2_Non-coding_Transcript|CD6_uc001nqt.2_Missense_Mutation_p.R266S	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	266	SRCR 3.|Extracellular (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						Pancreas(169;904 2017 4767 38890 42505)								0.4	12.399522	12.486478	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60777058	60777058	3156	11	C	A	A	A	351	27	CD6	1	1
C11orf66	220004	broad.mit.edu	37	11	61250202	61250202	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61250202T>G	uc001nru.1	+	c.303T>G	c.(301-303)CAT>CAG	p.H101Q	C11orf66_uc009ynq.1_Missense_Mutation_p.H101Q	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	101										ovary(1)	1												OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.304348	21.618387	22.402739	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61250202	61250202	1695	11	T	G	G	G	647	50	C11orf66	4	4
CCKBR	887	broad.mit.edu	37	11	6291483	6291483	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6291483C>A	uc001mcs.2	+	c.569C>A	c.(568-570)CCC>CAC	p.P190H	CCKBR_uc001mcp.2_Missense_Mutation_p.P190H|CCKBR_uc001mcq.2_Missense_Mutation_p.P118H|CCKBR_uc001mcr.2_Missense_Mutation_p.P190H|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	154	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception	integral to plasma membrane	1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			ovary(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)									0.222222	21.121729	24.329047	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6291483	6291483	3006	11	C	A	A	A	286	22	CCKBR	2	2
MEN1	4221	broad.mit.edu	37	11	64575497	64575497	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64575497G>A	uc001obj.2	-	c.535C>T	c.(535-537)CAC>TAC	p.H179Y	MEN1_uc001obk.2_Missense_Mutation_p.H179Y|MEN1_uc001obl.2_Missense_Mutation_p.H174Y|MEN1_uc001obm.2_Missense_Mutation_p.H174Y|MEN1_uc001obn.2_Missense_Mutation_p.H179Y|MEN1_uc001obo.2_Missense_Mutation_p.H179Y|MEN1_uc001obp.2_Missense_Mutation_p.H174Y|MEN1_uc001obq.2_Missense_Mutation_p.H179Y|MEN1_uc001obr.2_Missense_Mutation_p.H179Y	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	179					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|R-SMAD binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(8)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	237						Esophageal Squamous(1;83 158 15500 18603 18803 29295)				75				0.210526	9.795046	11.263853	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64575497	64575497	9861	11	G	A	A	A	611	47	MEN1	2	2
DNHD1	144132	broad.mit.edu	37	11	6587839	6587839	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6587839G>T	uc001mdw.3	+	c.11229G>T	c.(11227-11229)AAG>AAT	p.K3743N	DNHD1_uc001mea.3_Missense_Mutation_p.K12N|DNHD1_uc001meb.2_Missense_Mutation_p.K11N|DNHD1_uc001mec.2_Missense_Mutation_p.K11N|DNHD1_uc010rao.1_Missense_Mutation_p.K11N|DNHD1_uc009yfg.2_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	3743					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)										0.25	12.564859	13.701469	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6587839	6587839	4851	11	G	T	T	T	451	35	DNHD1	2	2
DCHS1	8642	broad.mit.edu	37	11	6644451	6644451	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6644451T>A	uc001mem.1	-	c.8456A>T	c.(8455-8457)CAC>CTC	p.H2819L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2819	Extracellular (Potential).|Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.375	18.346306	18.5657	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6644451	6644451	4458	11	T	A	A	A	767	59	DCHS1	3	3
PC	5091	broad.mit.edu	37	11	66617697	66617697	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66617697G>C	uc001ojn.1	-	c.2712C>G	c.(2710-2712)CTC>CTG	p.L904L	PC_uc001ojo.1_Silent_p.L904L|PC_uc001ojp.1_Silent_p.L904L|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	904					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)									0.3125	14.168866	14.669784	5	11	KEEP	---	---	---	---	capture		Silent	SNP	66617697	66617697	11917	11	G	C	C	C	574	45	PC	3	3
CDK2AP2	10263	broad.mit.edu	37	11	67275063	67275063	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67275063C>T	uc001oma.2	-	c.180G>A	c.(178-180)CAG>CAA	p.Q60Q	PITPNM1_uc001oly.2_5'Flank|PITPNM1_uc001olz.2_5'Flank|CDK2AP2_uc009yry.2_Non-coding_Transcript|CDK2AP2_uc001omb.2_Silent_p.Q69Q	NM_005851	NP_005842	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	60											0														0.555556	17.076022	17.100198	5	4	KEEP	---	---	---	---	capture		Silent	SNP	67275063	67275063	3268	11	C	T	T	T	311	24	CDK2AP2	2	2
TBX10	347853	broad.mit.edu	37	11	67400440	67400440	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67400440C>T	uc001omp.2	-	c.684G>A	c.(682-684)GTG>GTA	p.V228V		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	228	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.204545	19.04719	22.614409	9	35	KEEP	---	---	---	---	capture		Silent	SNP	67400440	67400440	16177	11	C	T	T	T	366	29	TBX10	2	2
LRP5	4041	broad.mit.edu	37	11	68181230	68181230	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68181230C>G	uc001ont.2	+	c.2577C>G	c.(2575-2577)TAC>TAG	p.Y859*	LRP5_uc009ysg.2_Nonsense_Mutation_p.Y269*	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	859	YWTD 11.|Beta-propeller 3.|LDL-receptor class B 15.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(1)|pancreas(1)	2														0.2	9.988604	11.6625	4	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	68181230	68181230	9333	11	C	G	G	G	259	20	LRP5	5	3
CPT1A	1374	broad.mit.edu	37	11	68552376	68552376	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68552376C>A	uc001oog.3	-	c.1070G>T	c.(1069-1071)CGG>CTG	p.R357L	CPT1A_uc001oof.3_Missense_Mutation_p.R357L|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	357	Cytoplasmic (Potential).		R -> W (in CPT1AD; decreased stability).		carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity				0	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)									0.266667	9.994263	10.731482	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68552376	68552376	3970	11	C	A	A	A	299	23	CPT1A	1	1
IGHMBP2	3508	broad.mit.edu	37	11	68704073	68704073	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68704073C>G	uc001ook.1	+	c.2125C>G	c.(2125-2127)CAG>GAG	p.Q709E	IGHMBP2_uc001ool.1_Missense_Mutation_p.Q333E|IGHMBP2_uc001oom.1_Missense_Mutation_p.Q287E	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	709	SS DNA-binding (By similarity).				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)											0.333333	6.248905	6.396056	2	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68704073	68704073	7892	11	C	G	G	G	377	29	IGHMBP2	3	3
SHANK2	22941	broad.mit.edu	37	11	70507701	70507701	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70507701C>A	uc001oqc.2	-	c.1936G>T	c.(1936-1938)GCT>TCT	p.A646S	SHANK2_uc010rqn.1_Missense_Mutation_p.A58S|SHANK2_uc001opz.2_Missense_Mutation_p.A58S|SHANK2_uc010rqp.1_Missense_Mutation_p.A58S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	267	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)											0.526316	57.690122	57.712465	20	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70507701	70507701	14757	11	C	A	A	A	312	24	SHANK2	2	2
NLRP14	338323	broad.mit.edu	37	11	7091627	7091627	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7091627A>T	uc001mfb.1	+	c.3086A>T	c.(3085-3087)GAA>GTA	p.E1029V		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1029	LRR 11.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.571429	72.601819	72.788208	24	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7091627	7091627	10879	11	A	T	T	T	117	9	NLRP14	3	3
SLCO2B1	11309	broad.mit.edu	37	11	74880372	74880372	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74880372G>A	uc001owb.2	+	c.603G>A	c.(601-603)GTG>GTA	p.V201V	SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Silent_p.V57V|SLCO2B1_uc010rrs.1_Silent_p.V85V|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Silent_p.V179V	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	201	Helical; Name=4; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)									0.269231	19.314209	20.563177	7	19	KEEP	---	---	---	---	capture		Silent	SNP	74880372	74880372	15224	11	G	A	A	A	600	47	SLCO2B1	2	2
OLFML1	283298	broad.mit.edu	37	11	7507195	7507195	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7507195C>A	uc001mfi.2	+	c.89C>A	c.(88-90)GCC>GAC	p.A30D	OLFML1_uc001mfh.1_Missense_Mutation_p.A30D|OLFML1_uc010raz.1_5'UTR|OLFML1_uc010rba.1_Missense_Mutation_p.A30D	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	30						extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)										0.303571	44.309699	46.207217	17	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7507195	7507195	11261	11	C	A	A	A	338	26	OLFML1	2	2
CAPN5	726	broad.mit.edu	37	11	76830158	76830158	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76830158G>T	uc009yup.2	+	c.1370G>T	c.(1369-1371)GGC>GTC	p.G457V	CAPN5_uc001oxx.2_Missense_Mutation_p.G417V|CAPN5_uc009yuq.2_Missense_Mutation_p.G453V|CAPN5_uc001oxy.2_Missense_Mutation_p.G457V|CAPN5_uc001oya.2_5'Flank	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	417	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0														0.714286	13.969618	14.255455	5	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76830158	76830158	2747	11	G	T	T	T	546	42	CAPN5	2	2
MYO7A	4647	broad.mit.edu	37	11	76916516	76916516	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76916516G>A	uc001oyb.2	+	c.5490G>A	c.(5488-5490)GAG>GAA	p.E1830E	MYO7A_uc001oyc.2_Silent_p.E1792E|MYO7A_uc001oye.2_Intron	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1830	MyTH4 2.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.666667	7.051853	7.124795	2	1	KEEP	---	---	---	---	capture		Silent	SNP	76916516	76916516	10477	11	G	A	A	A	451	35	MYO7A	2	2
OVCH2	341277	broad.mit.edu	37	11	7722903	7722903	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7722903C>A	uc010rbf.1	-	c.679G>T	c.(679-681)GGT>TGT	p.G227C		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)										0.208333	10.358165	12.253336	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7722903	7722903	11737	11	C	A	A	A	312	24	OVCH2	2	2
CLNS1A	1207	broad.mit.edu	37	11	77333672	77333672	+	Silent	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77333672T>C	uc001oyk.2	-	c.519A>G	c.(517-519)GGA>GGG	p.G173G	CLNS1A_uc001oyl.2_Silent_p.G139G	NM_001293	NP_001284	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	173					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			ovary(1)	1	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)											0.065574	-2.336782	9.599739	4	57	KEEP	---	---	---	---	capture		Silent	SNP	77333672	77333672	3686	11	T	C	C	C	639	50	CLNS1A	4	4
EIF3F	8665	broad.mit.edu	37	11	8008914	8008914	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:8008914G>C	uc001mfw.2	+	c.15G>C	c.(13-15)GCG>GCC	p.A5A	EIF3F_uc010rbj.1_5'UTR	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	5						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)								OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.181818	23.807716	30.05108	12	54	KEEP	---	---	---	---	capture		Silent	SNP	8008914	8008914	5207	11	G	C	C	C	496	39	EIF3F	3	3
PICALM	8301	broad.mit.edu	37	11	85712197	85712197	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85712197T>A	uc001pbm.2	-	c.898A>T	c.(898-900)ACT>TCT	p.T300S	PICALM_uc001pbl.2_Missense_Mutation_p.T300S|PICALM_uc001pbn.2_Missense_Mutation_p.T300S|PICALM_uc010rtl.1_Missense_Mutation_p.T249S|PICALM_uc010rtk.1_5'UTR|PICALM_uc001pbo.1_5'UTR	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	300					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)								415				0.15	15.152851	22.185409	9	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85712197	85712197	12304	11	T	A	A	A	780	60	PICALM	3	3
TYR	7299	broad.mit.edu	37	11	88924417	88924417	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88924417C>A	uc001pcs.2	+	c.867C>A	c.(865-867)TGC>TGA	p.C289*		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	289	Lumenal, melanosome (Potential).		C -> R (in OCA1A).|C -> G (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									0.258427	58.881402	63.588677	23	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88924417	88924417	17370	11	C	A	A	A	324	25	TYR	5	2
NOX4	50507	broad.mit.edu	37	11	89135496	89135496	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89135496G>C	uc001pct.2	-	c.844C>G	c.(844-846)CAG>GAG	p.Q282E	NOX4_uc009yvr.2_Missense_Mutation_p.Q257E|NOX4_uc001pcu.2_Missense_Mutation_p.Q208E|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.Q282E|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Missense_Mutation_p.Q116E|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.Q258E|NOX4_uc009yvq.2_Missense_Mutation_p.Q258E|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	282	Extracellular (Potential).|Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|oxidation-reduction process|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)												0.259259	20.812153	22.229519	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89135496	89135496	10962	11	G	C	C	C	624	48	NOX4	3	3
FAT3	120114	broad.mit.edu	37	11	92088448	92088448	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92088448G>T	uc001pdj.3	+	c.3170G>T	c.(3169-3171)CGC>CTC	p.R1057L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1057	Cadherin 10.|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)			0.247059	55.141332	60.085231	21	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92088448	92088448	5927	11	G	T	T	T	494	38	FAT3	1	1
FAT3	120114	broad.mit.edu	37	11	92523337	92523337	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92523337G>A	uc001pdj.3	+	c.4564G>A	c.(4564-4566)GAG>AAG	p.E1522K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1522	Cadherin 14.|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)			0.315789	189.315898	195.602155	66	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92523337	92523337	5927	11	G	A	A	A	481	37	FAT3	1	1
FAT3	120114	broad.mit.edu	37	11	92532335	92532335	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92532335G>T	uc001pdj.3	+	c.6156G>T	c.(6154-6156)CTG>CTT	p.L2052L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2052	Extracellular (Potential).|Cadherin 18.				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)			0.096774	2.100163	7.15237	3	28	KEEP	---	---	---	---	capture		Silent	SNP	92532335	92532335	5927	11	G	T	T	T	600	47	FAT3	2	2
HEPHL1	341208	broad.mit.edu	37	11	93806601	93806601	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93806601A>T	uc001pep.2	+	c.1500A>T	c.(1498-1500)CTA>CTT	p.L500L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	500	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.571429	52.803571	52.928061	16	12	KEEP	---	---	---	---	capture		Silent	SNP	93806601	93806601	7338	11	A	T	T	T	184	15	HEPHL1	3	3
NR1H4	9971	broad.mit.edu	37	12	100897224	100897224	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100897224G>T	uc001tht.1	+	c.59G>T	c.(58-60)TGT>TTT	p.C20F	NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.C20F	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	20					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3														0.137255	11.289151	17.783675	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100897224	100897224	11024	12	G	T	T	T	612	48	NR1H4	2	2
GAS2L3	283431	broad.mit.edu	37	12	101018385	101018385	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101018385G>C	uc001thu.2	+	c.1802G>C	c.(1801-1803)GGA>GCA	p.G601A	GAS2L3_uc009zty.2_Missense_Mutation_p.G601A|GAS2L3_uc001thv.2_Missense_Mutation_p.G497A	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	601					cell cycle arrest						0														0.613636	96.838037	97.337393	27	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101018385	101018385	6512	12	G	C	C	C	533	41	GAS2L3	3	3
BTBD11	121551	broad.mit.edu	37	12	107713142	107713142	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:107713142G>C	uc001tmk.1	+	c.425G>C	c.(424-426)CGC>CCC	p.R142P	BTBD11_uc009zut.1_Missense_Mutation_p.R142P|BTBD11_uc001tmj.2_Missense_Mutation_p.R142P	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	142						integral to membrane	DNA binding			ovary(1)	1														1	15.568355	15.507695	4	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107713142	107713142	1571	12	G	C	C	C	494	38	BTBD11	3	3
BTBD11	121551	broad.mit.edu	37	12	108045504	108045504	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108045504G>T	uc001tmk.1	+	c.3045G>T	c.(3043-3045)GAG>GAT	p.E1015D	BTBD11_uc001tml.1_Missense_Mutation_p.E552D|BTBD11_uc001tmm.1_Missense_Mutation_p.E94D	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	1015						integral to membrane	DNA binding			ovary(1)	1														0.232558	23.827265	26.643996	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108045504	108045504	1571	12	G	T	T	T	425	33	BTBD11	2	2
BTBD11	121551	broad.mit.edu	37	12	108051373	108051373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108051373C>T	uc001tmk.1	+	c.3193C>T	c.(3193-3195)CAG>TAG	p.Q1065*	BTBD11_uc001tml.1_Nonsense_Mutation_p.Q602*|BTBD11_uc001tmm.1_Nonsense_Mutation_p.Q144*	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	1065						integral to membrane	DNA binding			ovary(1)	1														0.604651	80.155111	80.566443	26	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108051373	108051373	1571	12	C	T	T	T	325	25	BTBD11	5	2
ACACB	32	broad.mit.edu	37	12	109637270	109637270	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109637270G>A	uc001tob.2	+	c.2691G>A	c.(2689-2691)CTG>CTA	p.L897L	ACACB_uc001toc.2_Silent_p.L897L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	897	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.631579	187.917845	189.365307	60	35	KEEP	---	---	---	---	capture		Silent	SNP	109637270	109637270	108	12	G	A	A	A	574	45	ACACB	2	2
PRH1	5554	broad.mit.edu	37	12	11036788	11036788	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11036788A>G	uc001qzc.2	-	c.29T>C	c.(28-30)CTG>CCG	p.L10P	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Non-coding_Transcript|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	10						extracellular space	protein binding				0				BRCA - Breast invasive adenocarcinoma(232;0.245)										0.080808	-1.175741	16.557489	8	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11036788	11036788	12925	12	A	G	G	G	91	7	PRH1	4	4
HVCN1	84329	broad.mit.edu	37	12	111088062	111088062	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111088062G>T	uc001trs.1	-	c.667C>A	c.(667-669)CGT>AGT	p.R223S	HVCN1_uc001trq.1_Missense_Mutation_p.R223S|HVCN1_uc001trt.1_Missense_Mutation_p.R223S|HVCN1_uc010syd.1_Missense_Mutation_p.R203S	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	223	Cytoplasmic (Potential).|Potential.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity				0														0.612903	64.829614	65.175356	19	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111088062	111088062	7762	12	G	T	T	T	520	40	HVCN1	1	1
C12orf51	283450	broad.mit.edu	37	12	112641564	112641564	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112641564A>T	uc009zwc.2	-	c.7016T>A	c.(7015-7017)GTA>GAA	p.V2339E	C12orf51_uc001ttr.1_Missense_Mutation_p.V514E	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.652174	49.331238	49.801295	15	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112641564	112641564	1740	12	A	T	T	T	182	14	C12orf51	3	3
OAS3	4940	broad.mit.edu	37	12	113398978	113398978	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113398978G>A	uc001tug.2	+	c.1760G>A	c.(1759-1761)CGG>CAG	p.R587Q		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	587	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1														0.209302	42.058093	48.745761	18	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113398978	113398978	11206	12	G	A	A	A	507	39	OAS3	1	1
DTX1	1840	broad.mit.edu	37	12	113530994	113530994	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113530994G>T	uc001tuk.1	+	c.969G>T	c.(967-969)TTG>TTT	p.L323F		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	323	Pro-rich.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|transcription regulator activity|ubiquitin protein ligase binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2										106				0.555556	15.775557	15.799679	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113530994	113530994	4978	12	G	T	T	T	581	45	DTX1	2	2
DDX54	79039	broad.mit.edu	37	12	113599744	113599744	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113599744T>A	uc001tuq.3	-	c.2254A>T	c.(2254-2256)AAG>TAG	p.K752*	DDX54_uc001tup.2_Nonsense_Mutation_p.K752*	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	752					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			central_nervous_system(1)|skin(1)	2														0.675676	76.675289	77.686074	25	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113599744	113599744	4543	12	T	A	A	A	793	61	DDX54	5	3
ERC1	23085	broad.mit.edu	37	12	1137202	1137202	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1137202A>G	uc001qjb.2	+	c.133A>G	c.(133-135)AGT>GGT	p.S45G	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.S45G|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.S45G	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	45					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(1)	3	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)							378				0.205128	34.255577	40.549034	16	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1137202	1137202	5403	12	A	G	G	G	91	7	ERC1	4	4
PLBD2	196463	broad.mit.edu	37	12	113822707	113822707	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113822707G>T	uc001tve.2	+	c.1170G>T	c.(1168-1170)GGG>GGT	p.G390G	PLBD2_uc001tvf.2_Intron	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	390					lipid catabolic process	lysosomal lumen	hydrolase activity				0														0.631579	34.296924	34.584765	12	7	KEEP	---	---	---	---	capture		Silent	SNP	113822707	113822707	12452	12	G	T	T	T	535	42	PLBD2	2	2
TBX3	6926	broad.mit.edu	37	12	115120798	115120798	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:115120798C>A	uc001tvt.1	-	c.208G>T	c.(208-210)GGG>TGG	p.G70W	TBX3_uc001tvu.1_Missense_Mutation_p.G70W|TBX3_uc010syw.1_Missense_Mutation_p.G70W	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	70					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	general transcriptional repressor activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)	2	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)										0.222222	8.038217	9.282901	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115120798	115120798	16185	12	C	A	A	A	286	22	TBX3	2	2
VSIG10	54621	broad.mit.edu	37	12	118504445	118504445	+	Nonstop_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:118504445C>A	uc001tws.2	-	c.1622G>T	c.(1621-1623)TGA>TTA	p.*541L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	541						integral to membrane					0														0.161435	62.626747	87.000542	36	187	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	118504445	118504445	17790	12	C	A	A	A	376	29	VSIG10	5	2
VSIG10	54621	broad.mit.edu	37	12	118504493	118504493	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:118504493C>T	uc001tws.2	-	c.1574G>A	c.(1573-1575)AGC>AAC	p.S525N		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	525	Cytoplasmic (Potential).					integral to membrane					0														0.053846	-25.379199	29.221889	14	246	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118504493	118504493	17790	12	C	T	T	T	364	28	VSIG10	2	2
SRRM4	84530	broad.mit.edu	37	12	119568489	119568489	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:119568489C>A	uc001txa.1	+	c.621C>A	c.(619-621)CGC>CGA	p.R207R		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	207	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2														0.208333	11.364426	13.253216	5	19	KEEP	---	---	---	---	capture		Silent	SNP	119568489	119568489	15685	12	C	A	A	A	340	27	SRRM4	1	1
COQ5	84274	broad.mit.edu	37	12	120960072	120960072	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120960072G>C	uc001tyn.2	-	c.297C>G	c.(295-297)CTC>CTG	p.L99L	COQ5_uc001tyo.2_Silent_p.L18L|COQ5_uc010szj.1_Silent_p.L99L	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	99					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.552632	74.180275	74.272079	21	17	KEEP	---	---	---	---	capture		Silent	SNP	120960072	120960072	3886	12	G	C	C	C	418	33	COQ5	3	3
ACADS	35	broad.mit.edu	37	12	121177209	121177209	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121177209G>T	uc001tza.3	+	c.1197G>T	c.(1195-1197)CGG>CGT	p.R399R	ACADS_uc001tzb.3_Silent_p.R280R	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	399						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)									0.727273	25.804312	26.316423	8	3	KEEP	---	---	---	---	capture		Silent	SNP	121177209	121177209	115	12	G	T	T	T	535	42	ACADS	2	2
P2RX4	5025	broad.mit.edu	37	12	121670268	121670268	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121670268C>T	uc001tzs.2	+	c.984C>T	c.(982-984)ATC>ATT	p.I328I	P2RX4_uc010szr.1_Non-coding_Transcript|P2RX4_uc010szs.1_Non-coding_Transcript|P2RX4_uc001tzr.2_Silent_p.I312I|P2RX4_uc009zxc.2_Silent_p.I285I|P2RX4_uc009zxb.2_Non-coding_Transcript|P2RX4_uc010szt.1_Silent_p.I211I	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	312	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|integral to plasma membrane|perinuclear region of cytoplasm	ATP binding|cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.628571	68.754783	69.262481	22	13	KEEP	---	---	---	---	capture		Silent	SNP	121670268	121670268	11755	12	C	T	T	T	369	29	P2RX4	2	2
KNTC1	9735	broad.mit.edu	37	12	123042196	123042196	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123042196A>G	uc001ucv.2	+	c.1448A>G	c.(1447-1449)TAT>TGT	p.Y483C	KNTC1_uc010taf.1_Missense_Mutation_p.Y446C	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	483					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.465116	67.198495	67.243813	20	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123042196	123042196	8742	12	A	G	G	G	208	16	KNTC1	4	4
KNTC1	9735	broad.mit.edu	37	12	123082387	123082387	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123082387C>T	uc001ucv.2	+	c.4465C>T	c.(4465-4467)CGG>TGG	p.R1489W	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1489					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.623529	167.389412	168.528448	53	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123082387	123082387	8742	12	C	T	T	T	347	27	KNTC1	1	1
PITPNM2	57605	broad.mit.edu	37	12	123485673	123485673	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123485673T>A	uc001uej.1	-	c.1081A>T	c.(1081-1083)AAG>TAG	p.K361*	PITPNM2_uc001uek.1_Nonsense_Mutation_p.K361*|PITPNM2_uc009zxu.1_Nonsense_Mutation_p.K361*	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	361					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)										0.228571	20.682535	23.047088	8	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123485673	123485673	12375	12	T	A	A	A	819	63	PITPNM2	5	3
TMEM132B	114795	broad.mit.edu	37	12	126139116	126139116	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126139116C>A	uc001uhe.1	+	c.3097C>A	c.(3097-3099)CTC>ATC	p.L1033I	TMEM132B_uc001uhf.1_Missense_Mutation_p.L545I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1033	Cytoplasmic (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)										0.327869	58.079154	59.681865	20	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126139116	126139116	16577	12	C	A	A	A	312	24	TMEM132B	2	2
TMEM132D	121256	broad.mit.edu	37	12	129569092	129569092	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129569092G>T	uc009zyl.1	-	c.1599C>A	c.(1597-1599)ACC>ACA	p.T533T	TMEM132D_uc001uia.2_Silent_p.T71T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	533	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.235294	10.694334	11.781568	4	13	KEEP	---	---	---	---	capture		Silent	SNP	129569092	129569092	16579	12	G	T	T	T	496	39	TMEM132D	1	1
GSG1	83445	broad.mit.edu	37	12	13238120	13238120	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13238120C>G	uc001rbn.2	-	c.804G>C	c.(802-804)ACG>ACC	p.T268T	GSG1_uc001rbj.2_Silent_p.T232T|GSG1_uc001rbk.2_Missense_Mutation_p.V274L|GSG1_uc001rbl.2_Silent_p.T204T|GSG1_uc001rbm.2_Silent_p.T181T|GSG1_uc001rbo.2_Missense_Mutation_p.V310L|GSG1_uc001rbp.2_Silent_p.T245T|GSG1_uc001rbq.1_Missense_Mutation_p.V310L	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	255						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)										0.12069	8.219445	16.599536	7	51	KEEP	---	---	---	---	capture		Silent	SNP	13238120	13238120	7100	12	C	G	G	G	247	19	GSG1	3	3
POLE	5426	broad.mit.edu	37	12	133202289	133202289	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133202289T>C	uc001uks.1	-	c.6599A>G	c.(6598-6600)GAG>GGG	p.E2200G	POLE_uc001ukq.1_Missense_Mutation_p.E410G|POLE_uc001ukr.1_Missense_Mutation_p.E1004G|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	2200					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)										0.790698	119.268831	122.631257	34	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133202289	133202289	12624	12	T	C	C	C	702	54	POLE	4	4
SLCO1C1	53919	broad.mit.edu	37	12	20874971	20874971	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20874971G>T	uc010sii.1	+	c.1009G>T	c.(1009-1011)GAA>TAA	p.E337*	SLCO1C1_uc010sij.1_Nonsense_Mutation_p.E288*|SLCO1C1_uc001rej.3_Nonsense_Mutation_p.E337*|SLCO1C1_uc009zip.2_Nonsense_Mutation_p.E171*|SLCO1C1_uc001rei.2_Nonsense_Mutation_p.E337*|SLCO1C1_uc010sik.1_Nonsense_Mutation_p.E219*	NM_001145946	NP_001139418	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	337	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.685185	118.290475	119.936459	37	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20874971	20874971	15222	12	G	T	T	T	533	41	SLCO1C1	5	2
CACNA1C	775	broad.mit.edu	37	12	2224636	2224636	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2224636G>C	uc009zdu.1	+	c.296G>C	c.(295-297)CGC>CCC	p.R99P	CACNA1C_uc009zdv.1_Missense_Mutation_p.R99P|CACNA1C_uc001qkb.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkc.2_Missense_Mutation_p.R99P|CACNA1C_uc001qke.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkf.2_Missense_Mutation_p.R99P|CACNA1C_uc001qjz.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkd.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkg.2_Missense_Mutation_p.R99P|CACNA1C_uc009zdw.1_Missense_Mutation_p.R99P|CACNA1C_uc001qkh.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkl.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkn.2_Missense_Mutation_p.R99P|CACNA1C_uc001qko.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkp.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkr.2_Missense_Mutation_p.R99P|CACNA1C_uc001qku.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkq.2_Missense_Mutation_p.R99P|CACNA1C_uc001qks.2_Missense_Mutation_p.R99P|CACNA1C_uc001qkt.2_Missense_Mutation_p.R99P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	99	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.545455	38.401603	38.441433	12	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2224636	2224636	2656	12	G	C	C	C	494	38	CACNA1C	3	3
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.785714	36.331467	37.386479	11	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
C12orf11	55726	broad.mit.edu	37	12	27078781	27078781	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:27078781G>A	uc001rhk.3	-	c.588C>T	c.(586-588)CTC>CTT	p.L196L	C12orf11_uc010sjk.1_Silent_p.L95L	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	196					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)													0.269231	35.523711	38.025098	14	38	KEEP	---	---	---	---	capture		Silent	SNP	27078781	27078781	1719	12	G	A	A	A	574	45	C12orf11	2	2
TM7SF3	51768	broad.mit.edu	37	12	27148212	27148212	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:27148212C>G	uc010sjl.1	-	c.648G>C	c.(646-648)CAG>CAC	p.Q216H		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	216						integral to membrane|plasma membrane					0	Colorectal(261;0.0847)													0.059829	-6.575337	17.135087	7	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27148212	27148212	16505	12	C	G	G	G	415	32	TM7SF3	3	3
CACNA1C	775	broad.mit.edu	37	12	2721163	2721163	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2721163T>C	uc009zdu.1	+	c.3872T>C	c.(3871-3873)ATT>ACT	p.I1291T	CACNA1C_uc009zdv.1_Missense_Mutation_p.I1268T|CACNA1C_uc001qkb.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qkc.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qke.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qkf.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qjz.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qkd.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qkg.2_Missense_Mutation_p.I1271T|CACNA1C_uc009zdw.1_Missense_Mutation_p.I1271T|CACNA1C_uc001qkh.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qkl.2_Missense_Mutation_p.I1291T|CACNA1C_uc001qkn.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qko.2_Missense_Mutation_p.I1291T|CACNA1C_uc001qkp.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qkr.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qku.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qkq.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qks.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qkt.2_Missense_Mutation_p.I1271T|CACNA1C_uc001qka.1_Missense_Mutation_p.I806T|CACNA1C_uc001qki.1_Missense_Mutation_p.I1007T|CACNA1C_uc001qkj.1_Missense_Mutation_p.I1007T|CACNA1C_uc001qkk.1_Missense_Mutation_p.I1007T|CACNA1C_uc001qkm.1_Missense_Mutation_p.I1007T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1291	Helical; Name=S2 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.587879	343.642586	344.745792	97	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2721163	2721163	2656	12	T	C	C	C	676	52	CACNA1C	4	4
PPFIBP1	8496	broad.mit.edu	37	12	27788039	27788039	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:27788039G>C	uc001ric.1	+	c.261G>C	c.(259-261)CAG>CAC	p.Q87H	PPFIBP1_uc001rhy.1_Missense_Mutation_p.Q87H|PPFIBP1_uc001rhz.1_Missense_Mutation_p.Q87H|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.Q87H|PPFIBP1_uc001ria.2_Missense_Mutation_p.Q87H|PPFIBP1_uc001rid.1_Intron	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	87					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)													0.542169	156.580979	156.709188	45	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27788039	27788039	12743	12	G	C	C	C	425	33	PPFIBP1	3	3
FGD4	121512	broad.mit.edu	37	12	32761011	32761011	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32761011G>A	uc010ske.1	+	c.1450G>A	c.(1450-1452)GAC>AAC	p.D484N	FGD4_uc001rlc.2_Missense_Mutation_p.D457N|FGD4_uc001rky.2_Missense_Mutation_p.D124N|FGD4_uc001rkz.2_Missense_Mutation_p.D372N|FGD4_uc001rla.2_Missense_Mutation_p.D28N|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	372	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.375	97.551794	98.75949	33	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32761011	32761011	6072	12	G	A	A	A	533	41	FGD4	2	2
SYT10	341359	broad.mit.edu	37	12	33579212	33579212	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33579212C>T	uc001rll.1	-	c.370G>A	c.(370-372)GTA>ATA	p.V124I	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	124	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.2625	55.444795	59.523044	21	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33579212	33579212	15987	12	C	T	T	T	247	19	SYT10	1	1
ABCD2	225	broad.mit.edu	37	12	39994514	39994514	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:39994514T>A	uc001rmb.2	-	c.1505A>T	c.(1504-1506)GAA>GTA	p.E502V		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	502	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.333333	40.781724	41.963693	16	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39994514	39994514	62	12	T	A	A	A	806	62	ABCD2	3	3
PPHLN1	51535	broad.mit.edu	37	12	42778772	42778772	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:42778772G>T	uc001rng.1	+	c.542G>T	c.(541-543)CGG>CTG	p.R181L	PPHLN1_uc001rmy.2_Missense_Mutation_p.R199L|PPHLN1_uc001rna.2_Missense_Mutation_p.R133L|PPHLN1_uc001rne.2_Intron|PPHLN1_uc001rnb.2_Missense_Mutation_p.R188L|PPHLN1_uc001rnd.2_Missense_Mutation_p.R133L|PPHLN1_uc001rnc.2_Missense_Mutation_p.R181L|PPHLN1_uc001rnf.2_Intron|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Missense_Mutation_p.R126L|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Missense_Mutation_p.R126L|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron|PPHLN1_uc001rnj.2_5'Flank	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	181	Ser-rich.				keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)										0.324324	34.104407	35.10911	12	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42778772	42778772	12745	12	G	T	T	T	507	39	PPHLN1	1	1
CCND2	894	broad.mit.edu	37	12	4398020	4398020	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4398020C>T	uc001qmo.2	+	c.584C>T	c.(583-585)GCC>GTC	p.A195V		NM_001759	NP_001750	P30279	CCND2_HUMAN	cyclin D2	195					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			kidney(1)	1			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)							84				0.294118	64.636561	67.864369	25	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4398020	4398020	3044	12	C	T	T	T	338	26	CCND2	2	2
TMEM117	84216	broad.mit.edu	37	12	44781886	44781886	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44781886A>T	uc001rod.2	+	c.976A>T	c.(976-978)AAA>TAA	p.K326*	TMEM117_uc001roe.2_Nonsense_Mutation_p.K222*|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	326						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)										0.27907	30.883066	32.7699	12	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44781886	44781886	16562	12	A	T	T	T	169	13	TMEM117	5	3
DBX2	440097	broad.mit.edu	37	12	45410244	45410244	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45410244A>T	uc001rok.1	-	c.845T>A	c.(844-846)GTC>GAC	p.V282D		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	282					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)										0.2	62.035475	75.018866	31	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45410244	45410244	4431	12	A	T	T	T	130	10	DBX2	3	3
FGF6	2251	broad.mit.edu	37	12	4554566	4554566	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4554566C>A	uc001qmr.1	-	c.171G>T	c.(169-171)CTG>CTT	p.L57L		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	57					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			ovary(1)	1			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)											0.175	14.004177	17.986608	7	33	KEEP	---	---	---	---	capture		Silent	SNP	4554566	4554566	6093	12	C	A	A	A	314	25	FGF6	2	2
SLC38A4	55089	broad.mit.edu	37	12	47168833	47168833	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:47168833G>T	uc001rpi.2	-	c.1298C>A	c.(1297-1299)CCA>CAA	p.P433Q	SLC38A4_uc001rpj.2_Missense_Mutation_p.P433Q	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	433	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.192)|Renal(347;0.236)													0.16092	22.375531	31.931515	14	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47168833	47168833	15103	12	G	T	T	T	611	47	SLC38A4	2	2
KCNA6	3742	broad.mit.edu	37	12	4920249	4920249	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4920249C>A	uc001qng.2	+	c.1042C>A	c.(1042-1044)CGG>AGG	p.R348R		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	348	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|skin(1)	2														0.527778	61.824356	61.848471	19	17	KEEP	---	---	---	---	capture		Silent	SNP	4920249	4920249	8312	12	C	A	A	A	295	23	KCNA6	1	1
MLL2	8085	broad.mit.edu	37	12	49422638	49422638	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49422638C>A	uc001rta.3	-	c.14355G>T	c.(14353-14355)ATG>ATT	p.M4785I		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4785					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29														0.368421	39.019072	39.604871	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49422638	49422638	10011	12	C	A	A	A	325	25	MLL2	2	2
NCKAP5L	57701	broad.mit.edu	37	12	50195708	50195708	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50195708C>G	uc009zlk.2	-	c.274G>C	c.(274-276)GAC>CAC	p.D92H		NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	88	Potential.										0														0.28	38.220115	40.402468	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50195708	50195708	10623	12	C	G	G	G	377	29	NCKAP5L	3	3
ACCN2	41	broad.mit.edu	37	12	50472760	50472760	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50472760C>G	uc001rvv.2	+	c.1048C>G	c.(1048-1050)CTG>GTG	p.L350V	ACCN2_uc001rvw.2_Missense_Mutation_p.L350V|ACCN2_uc009zln.2_Missense_Mutation_p.L141V|ACCN2_uc009zlo.2_Missense_Mutation_p.L350V	NM_020039	NP_064423	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	350	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)									0.166667	37.278231	48.660234	18	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50472760	50472760	130	12	C	G	G	G	415	32	ACCN2	3	3
SMARCD1	6602	broad.mit.edu	37	12	50480065	50480065	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50480065G>T	uc001rvx.3	+	c.299G>T	c.(298-300)CGC>CTC	p.R100L	SMARCD1_uc010smo.1_Missense_Mutation_p.R100L|SMARCD1_uc001rvy.3_Missense_Mutation_p.R100L|SMARCD1_uc009zlp.2_Missense_Mutation_p.R100L	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	100	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1														0.2	8.592244	10.263737	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50480065	50480065	15275	12	G	T	T	T	494	38	SMARCD1	1	1
GPD1	2819	broad.mit.edu	37	12	50497855	50497855	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50497855A>G	uc001rvz.2	+	c.22A>G	c.(22-24)ATT>GTT	p.I8V	GPD1_uc010smp.1_Missense_Mutation_p.I8V|GPD1_uc001rwa.2_Missense_Mutation_p.I8V	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	8					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	NSCLC(141;1402 1905 9497 13391 44868)								0.333333	50.261823	51.514544	17	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50497855	50497855	6878	12	A	G	G	G	104	8	GPD1	4	4
KCNA5	3741	broad.mit.edu	37	12	5154729	5154729	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5154729G>T	uc001qni.2	+	c.1416G>T	c.(1414-1416)TGG>TGT	p.W472C		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	472						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4														0.219512	20.756521	23.725406	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5154729	5154729	8311	12	G	T	T	T	572	44	KCNA5	2	2
KCNA5	3741	broad.mit.edu	37	12	5154951	5154951	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5154951G>T	uc001qni.2	+	c.1638G>T	c.(1636-1638)CCG>CCT	p.P546P		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	546						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4														0.631579	39.839261	40.151873	12	7	KEEP	---	---	---	---	capture		Silent	SNP	5154951	5154951	8311	12	G	T	T	T	496	39	KCNA5	1	1
KRT5	3852	broad.mit.edu	37	12	52908971	52908971	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52908971C>A	uc001san.2	-	c.1528G>T	c.(1528-1530)GGT>TGT	p.G510C		NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	510	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.2	7.115986	8.371815	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52908971	52908971	8794	12	C	A	A	A	299	23	KRT5	1	1
KRT71	112802	broad.mit.edu	37	12	52943828	52943828	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52943828T>C	uc001sao.2	-	c.641A>G	c.(640-642)GAG>GGG	p.E214G		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	214	Coil 1B.|Rod.						structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.194)										0.411765	113.709374	114.287421	35	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52943828	52943828	8799	12	T	C	C	C	702	54	KRT71	4	4
KRT71	112802	broad.mit.edu	37	12	52946607	52946607	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52946607G>T	uc001sao.2	-	c.255C>A	c.(253-255)GGC>GGA	p.G85G		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	85	Head.|Gly-rich.						structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.194)										0.365854	42.607086	43.258509	15	26	KEEP	---	---	---	---	capture		Silent	SNP	52946607	52946607	8799	12	G	T	T	T	587	46	KRT71	2	2
KRT4	3851	broad.mit.edu	37	12	53204583	53204583	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53204583T>A	uc001saz.2	-	c.917A>T	c.(916-918)AAC>ATC	p.N306I		NM_002272	NP_002263	P19013	K2C4_HUMAN	keratin 4	246	Coil 1B.|Rod.				cytoskeleton organization|epithelial cell differentiation|negative regulation of epithelial cell proliferation	keratin filament	structural molecule activity			ovary(4)	4						Pancreas(190;284 2995 41444 45903)								0.16	7.083015	9.836059	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53204583	53204583	8792	12	T	A	A	A	780	60	KRT4	3	3
KRT8	3856	broad.mit.edu	37	12	53293563	53293563	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53293563C>A	uc009zmk.1	-	c.1061G>T	c.(1060-1062)GGC>GTC	p.G354V	KRT8_uc001sbd.2_Missense_Mutation_p.G326V|KRT8_uc009zmj.2_Missense_Mutation_p.G326V|KRT8_uc009zml.1_Missense_Mutation_p.G326V|KRT8_uc009zmm.1_Missense_Mutation_p.G326V	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	326	Necessary for interaction with PNN.|Rod.|Coil 2.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.5	21.994731	21.994731	8	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53293563	53293563	8808	12	C	A	A	A	338	26	KRT8	2	2
SOAT2	8435	broad.mit.edu	37	12	53514577	53514577	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53514577C>T	uc001sbv.2	+	c.1047C>T	c.(1045-1047)TTC>TTT	p.F349F	SOAT2_uc009zms.2_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	349	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|intestinal cholesterol absorption|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1														0.166667	10.227191	14.022667	6	30	KEEP	---	---	---	---	capture		Silent	SNP	53514577	53514577	15411	12	C	T	T	T	376	29	SOAT2	2	2
HOXC4	3221	broad.mit.edu	37	12	54448886	54448886	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54448886C>G	uc001seu.2	+	c.692C>G	c.(691-693)GCG>GGG	p.A231G	HOXC4_uc001sex.2_Missense_Mutation_p.A231G	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	231					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.421053	24.596925	24.700113	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54448886	54448886	7605	12	C	G	G	G	351	27	HOXC4	3	3
NCKAP1L	3071	broad.mit.edu	37	12	54917263	54917263	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54917263A>G	uc001sgc.3	+	c.1964A>G	c.(1963-1965)GAG>GGG	p.E655G	NCKAP1L_uc010sox.1_Missense_Mutation_p.E197G|NCKAP1L_uc010soy.1_Missense_Mutation_p.E605G	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	655					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4														0.316327	82.173769	85.12384	31	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54917263	54917263	10621	12	A	G	G	G	143	11	NCKAP1L	4	4
OR6C3	254786	broad.mit.edu	37	12	55726036	55726036	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55726036A>G	uc010spj.1	+	c.552A>G	c.(550-552)CTA>CTG	p.L184L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.257669	119.278848	127.950089	42	121	KEEP	---	---	---	---	capture		Silent	SNP	55726036	55726036	11602	12	A	G	G	G	197	16	OR6C3	4	4
SMARCC2	6601	broad.mit.edu	37	12	56579949	56579949	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56579949C>T	uc001skb.2	-	c.307G>A	c.(307-309)GAC>AAC	p.D103N	SMARCC2_uc001skd.2_Missense_Mutation_p.D103N|SMARCC2_uc001ska.2_Missense_Mutation_p.D103N|SMARCC2_uc001skc.2_Missense_Mutation_p.D103N|SMARCC2_uc010sqf.1_5'UTR	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	103					chromatin assembly or disassembly|chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	chromatin binding|DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)											0.178947	35.114184	44.331448	17	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56579949	56579949	15274	12	C	T	T	T	377	29	SMARCC2	2	2
SMARCC2	6601	broad.mit.edu	37	12	56580009	56580009	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56580009C>G	uc001skb.2	-	c.247G>C	c.(247-249)GAT>CAT	p.D83H	SMARCC2_uc001skd.2_Missense_Mutation_p.D83H|SMARCC2_uc001ska.2_Missense_Mutation_p.D83H|SMARCC2_uc001skc.2_Missense_Mutation_p.D83H|SMARCC2_uc010sqf.1_5'UTR	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	83					chromatin assembly or disassembly|chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	chromatin binding|DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)											0.121212	12.350845	21.632701	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56580009	56580009	15274	12	C	G	G	G	416	32	SMARCC2	3	3
SDR9C7	121214	broad.mit.edu	37	12	57327883	57327883	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57327883C>A	uc010sqw.1	-	c.163G>T	c.(163-165)GCT>TCT	p.A55S		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	55					oxidation-reduction process	cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1														0.142857	6.17954	9.623453	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57327883	57327883	14460	12	C	A	A	A	325	25	SDR9C7	2	2
MYO1A	4640	broad.mit.edu	37	12	57436907	57436907	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57436907G>C	uc001smw.3	-	c.1047C>G	c.(1045-1047)ATC>ATG	p.I349M	MYO1A_uc010sqz.1_Missense_Mutation_p.I187M|MYO1A_uc009zpd.2_Missense_Mutation_p.I349M	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	349	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|urinary_tract(1)|skin(1)	4														0.333333	26.769787	27.432124	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57436907	57436907	10463	12	G	C	C	C	421	33	MYO1A	3	3
GLI1	2735	broad.mit.edu	37	12	57865110	57865110	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57865110G>C	uc001snx.2	+	c.2587G>C	c.(2587-2589)GGC>CGC	p.G863R	GLI1_uc009zpq.2_Missense_Mutation_p.G735R	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	863					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of gene-specific transcription|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	promoter binding|transcription activator activity|zinc ion binding			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	14			GBM - Glioblastoma multiforme(3;3.99e-32)			Pancreas(157;841 1936 10503 41495 50368)				277				0.238095	26.028296	28.660278	10	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57865110	57865110	6705	12	G	C	C	C	455	35	GLI1	3	3
ARHGAP9	64333	broad.mit.edu	37	12	57872366	57872366	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57872366G>T	uc001sod.2	-	c.704C>A	c.(703-705)TCC>TAC	p.S235Y	ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.S164Y|ARHGAP9_uc001soc.2_Missense_Mutation_p.S164Y|ARHGAP9_uc001soe.1_Missense_Mutation_p.S243Y|ARHGAP9_uc010sro.1_Missense_Mutation_p.S164Y	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	164					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)											0.072727	-5.273048	15.382448	8	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57872366	57872366	903	12	G	T	T	T	533	41	ARHGAP9	2	2
KIF5A	3798	broad.mit.edu	37	12	57974740	57974740	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57974740T>C	uc001sor.1	+	c.2540T>C	c.(2539-2541)CTG>CCG	p.L847P	KIF5A_uc010srr.1_Missense_Mutation_p.L758P	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	847					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)	2														0.244444	27.808462	30.482703	11	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57974740	57974740	8616	12	T	C	C	C	715	55	KIF5A	4	4
VWF	7450	broad.mit.edu	37	12	6122794	6122794	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6122794T>A	uc001qnn.1	-	c.5473A>T	c.(5473-5475)ATT>TTT	p.I1825F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1825	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.211111	45.983238	52.923697	19	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6122794	6122794	17818	12	T	A	A	A	637	49	VWF	3	3
MON2	23041	broad.mit.edu	37	12	62918364	62918364	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:62918364C>A	uc001sre.2	+	c.1054C>A	c.(1054-1056)CGA>AGA	p.R352R	MON2_uc009zqj.2_Silent_p.R352R|MON2_uc010ssl.1_Silent_p.R280R|MON2_uc010ssm.1_Silent_p.R352R|MON2_uc010ssn.1_Silent_p.R352R|MON2_uc001srf.2_Silent_p.R115R	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	352					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)										0.285714	8.025785	8.584697	4	10	KEEP	---	---	---	---	capture		Silent	SNP	62918364	62918364	10091	12	C	A	A	A	243	19	MON2	1	1
CD4	920	broad.mit.edu	37	12	6923306	6923306	+	Splice_Site_SNP	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6923306A>C	uc001qqv.1	+	c.215_splice	c.e4-2	p.G72_splice	CD4_uc009zez.1_Splice_Site_SNP_p.G17_splice|CD4_uc009zfa.1_Splice_Site_SNP|CD4_uc009zfb.1_Splice_Site_SNP|CD4_uc010sfj.1_Splice_Site_SNP|CD4_uc009zfc.1_Splice_Site_SNP|CD4_uc010sfk.1_Splice_Site_SNP|CD4_uc010sfl.1_Splice_Site_SNP|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607			CD4 antigen precursor						cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)												0.206897	102.871508	123.867538	54	207	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6923306	6923306	3142	12	A	C	C	C	91	7	CD4	5	4
LRRC10	376132	broad.mit.edu	37	12	70004028	70004028	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70004028C>A	uc001svc.2	-	c.591G>T	c.(589-591)GTG>GTT	p.V197V		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	197	LRR 7.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)											0.287879	50.297164	52.960801	19	47	KEEP	---	---	---	---	capture		Silent	SNP	70004028	70004028	9340	12	C	A	A	A	262	21	LRRC10	2	2
PTPRB	5787	broad.mit.edu	37	12	70970307	70970307	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70970307G>C	uc001swc.3	-	c.2697C>G	c.(2695-2697)GAC>GAG	p.D899E	PTPRB_uc001swb.3_Missense_Mutation_p.D681E|PTPRB_uc010sto.1_Missense_Mutation_p.D681E|PTPRB_uc010stp.1_Missense_Mutation_p.D591E|PTPRB_uc001swa.3_Intron|PTPRB_uc001swd.3_Missense_Mutation_p.D898E|PTPRB_uc009zrr.1_Missense_Mutation_p.D778E	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	681	Fibronectin type-III 8.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.6	11.326159	11.3699	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70970307	70970307	13253	12	G	C	C	C	516	40	PTPRB	3	3
CD163L1	283316	broad.mit.edu	37	12	7527243	7527243	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7527243G>T	uc010sge.1	-	c.3234C>A	c.(3232-3234)AGC>AGA	p.S1078R	CD163L1_uc001qsy.2_Missense_Mutation_p.S1068R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1068	SRCR 10.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9												OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.732759	285.221909	290.913554	85	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7527243	7527243	3095	12	G	T	T	T	490	38	CD163L1	1	1
BBS10	79738	broad.mit.edu	37	12	76740736	76740736	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76740736C>A	uc001syd.1	-	c.1029G>T	c.(1027-1029)CGG>CGT	p.R343R		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	343					cellular protein metabolic process|photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	cilium	ATP binding			ovary(1)	1														0.728395	187.153137	190.961095	59	22	KEEP	---	---	---	---	capture		Silent	SNP	76740736	76740736	1357	12	C	A	A	A	379	30	BBS10	2	2
NAV3	89795	broad.mit.edu	37	12	78582521	78582521	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78582521G>T	uc001syp.2	+	c.6019G>T	c.(6019-6021)GTT>TTT	p.V2007F	NAV3_uc001syo.2_Missense_Mutation_p.V1985F|NAV3_uc010sub.1_Missense_Mutation_p.V1464F|NAV3_uc009zsf.2_Missense_Mutation_p.V816F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2007						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.111111	11.180753	24.644067	10	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78582521	78582521	10581	12	G	T	T	T	624	48	NAV3	2	2
MGAT4C	25834	broad.mit.edu	37	12	86377322	86377322	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:86377322C>A	uc010sum.1	-	c.346G>T	c.(346-348)GCC>TCC	p.A116S	MGAT4C_uc001tal.3_Missense_Mutation_p.A92S|MGAT4C_uc001taj.3_Missense_Mutation_p.A92S|MGAT4C_uc001tak.3_Missense_Mutation_p.A92S|MGAT4C_uc001tai.3_Missense_Mutation_p.A92S|MGAT4C_uc001tah.3_Missense_Mutation_p.A92S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	92	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3														0.282051	28.210833	29.878036	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86377322	86377322	9937	12	C	A	A	A	325	25	MGAT4C	2	2
CLEC4E	26253	broad.mit.edu	37	12	8689842	8689842	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8689842G>A	uc001quo.1	-	c.241C>T	c.(241-243)CCA>TCA	p.P81S		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	81	Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)													0.197674	37.827004	45.145856	17	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8689842	8689842	3653	12	G	A	A	A	533	41	CLEC4E	2	2
CEP290	80184	broad.mit.edu	37	12	88486561	88486561	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88486561C>A	uc001tar.2	-	c.3358G>T	c.(3358-3360)GAT>TAT	p.D1120Y	CEP290_uc001taq.2_Missense_Mutation_p.D180Y	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1120	Potential.				cell projection organization|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding|transcription activator activity			ovary(5)|breast(1)|pancreas(1)	7														0.234694	52.569515	58.884624	23	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88486561	88486561	3386	12	C	A	A	A	416	32	CEP290	2	2
A2M	2	broad.mit.edu	37	12	9265028	9265028	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9265028C>A	uc001qvk.1	-	c.375G>T	c.(373-375)GAG>GAT	p.E125D	A2M_uc009zgk.1_Intron	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	125					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.654545	116.713841	117.873347	36	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9265028	9265028	5	12	C	A	A	A	311	24	A2M	2	2
TMCC3	57458	broad.mit.edu	37	12	94975859	94975859	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:94975859G>T	uc001tdj.2	-	c.534C>A	c.(532-534)CCC>CCA	p.P178P	TMCC3_uc001tdi.2_Silent_p.P147P	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	178						integral to membrane				ovary(1)	1														0.601562	245.006516	246.166891	77	51	KEEP	---	---	---	---	capture		Silent	SNP	94975859	94975859	16524	12	G	T	T	T	548	43	TMCC3	2	2
APAF1	317	broad.mit.edu	37	12	99106159	99106159	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99106159C>T	uc001tfz.2	+	c.2904C>T	c.(2902-2904)TGC>TGT	p.C968C	APAF1_uc001tfy.2_Silent_p.C957C|APAF1_uc001tga.2_Silent_p.C914C|APAF1_uc001tgb.2_Silent_p.C925C|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.C334C	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	968	WD 8.				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)					519				0.388889	84.18285	84.96192	28	44	KEEP	---	---	---	---	capture		Silent	SNP	99106159	99106159	765	12	C	T	T	T	363	28	APAF1	2	2
NALCN	259232	broad.mit.edu	37	13	101757000	101757000	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101757000C>A	uc001vox.1	-	c.2638G>T	c.(2638-2640)GAT>TAT	p.D880Y		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	880	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.594937	149.334562	149.956022	47	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101757000	101757000	10544	13	C	A	A	A	377	29	NALCN	2	2
NALCN	259232	broad.mit.edu	37	13	101763498	101763498	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101763498G>T	uc001vox.1	-	c.2272C>A	c.(2272-2274)CAT>AAT	p.H758N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	758	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.076471	-1.444414	29.774067	13	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101763498	101763498	10544	13	G	T	T	T	598	46	NALCN	2	2
ARGLU1	55082	broad.mit.edu	37	13	107209470	107209470	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:107209470G>A	uc001vqk.3	-	c.583C>T	c.(583-585)CGT>TGT	p.R195C	ARGLU1_uc010age.1_3'UTR	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	195	Glu-rich.										0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)													0.139535	8.819987	14.218677	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107209470	107209470	871	13	G	A	A	A	520	40	ARGLU1	1	1
COL4A1	1282	broad.mit.edu	37	13	110815873	110815873	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110815873C>G	uc001vqw.3	-	c.4186G>C	c.(4186-4188)GGT>CGT	p.G1396R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1396	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.129032	3.280413	7.441376	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110815873	110815873	3827	13	C	G	G	G	312	24	COL4A1	3	3
COL4A2	1284	broad.mit.edu	37	13	111084685	111084685	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111084685C>A	uc001vqx.2	+	c.662C>A	c.(661-663)CCC>CAC	p.P221H		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	221	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.208333	10.660233	12.553151	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111084685	111084685	3828	13	C	A	A	A	286	22	COL4A2	2	2
UPF3A	65110	broad.mit.edu	37	13	115048347	115048347	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:115048347A>G	uc001vup.2	+	c.350A>G	c.(349-351)AAT>AGT	p.N117S	UPF3A_uc010tkn.1_Missense_Mutation_p.N117S|UPF3A_uc001vuq.2_Missense_Mutation_p.N117S|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	117					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)										0.833333	76.316792	78.846113	20	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115048347	115048347	17565	13	A	G	G	G	52	4	UPF3A	4	4
PARP4	143	broad.mit.edu	37	13	25000737	25000737	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25000737C>A	uc001upl.2	-	c.4847_splice	c.e33-1	p.G1616_splice		NM_006437	NP_006428			poly (ADP-ribose) polymerase family, member 4						cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)	3		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)										0.3	41.204522	42.991978	15	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	25000737	25000737	11880	13	C	A	A	A	312	24	PARP4	5	2
FAM123A	219287	broad.mit.edu	37	13	25744616	25744616	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25744616C>A	uc001uqb.2	-	c.1142G>T	c.(1141-1143)TGT>TTT	p.C381F	FAM123A_uc001uqa.2_Missense_Mutation_p.C262F|FAM123A_uc001uqc.2_Missense_Mutation_p.C262F	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	381										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)										0.26087	14.027257	15.228787	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25744616	25744616	5619	13	C	A	A	A	221	17	FAM123A	2	2
MTMR6	9107	broad.mit.edu	37	13	25840041	25840041	+	Silent	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25840041T>C	uc001uqf.3	-	c.507A>G	c.(505-507)GCA>GCG	p.A169A	MTMR6_uc001uqe.1_Silent_p.A169A	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	169	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)										0.060976	-7.394434	9.12006	5	77	KEEP	---	---	---	---	capture		Silent	SNP	25840041	25840041	10340	13	T	C	C	C	808	63	MTMR6	4	4
ATP8A2	51761	broad.mit.edu	37	13	26112153	26112153	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26112153G>C	uc001uqk.2	+	c.535G>C	c.(535-537)GTC>CTC	p.V179L	ATP8A2_uc010tdi.1_Missense_Mutation_p.V139L|ATP8A2_uc010tdj.1_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.V139L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	139	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.241379	18.812616	20.580668	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26112153	26112153	1212	13	G	C	C	C	520	40	ATP8A2	3	3
FLT3	2322	broad.mit.edu	37	13	28624273	28624273	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28624273C>A	uc001urw.2	-	c.701G>T	c.(700-702)AGA>ATA	p.R234I	FLT3_uc010aao.2_Non-coding_Transcript|FLT3_uc010tdn.1_Missense_Mutation_p.R234I	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	234	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8072)|ovary(2)|lung(1)|central_nervous_system(1)	8076	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)					630				0.421053	92.270527	92.687076	32	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28624273	28624273	6184	13	C	A	A	A	416	32	FLT3	2	2
MTUS2	23281	broad.mit.edu	37	13	29855846	29855846	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29855846A>T	uc001usl.3	+	c.2680A>T	c.(2680-2682)ACC>TCC	p.T894S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	884	Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.3125	12.668546	13.169698	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29855846	29855846	10359	13	A	T	T	T	26	2	MTUS2	3	3
C13orf26	122046	broad.mit.edu	37	13	31526832	31526832	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:31526832C>A	uc001uti.2	+	c.182C>A	c.(181-183)TCA>TAA	p.S61*		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	hypothetical protein LOC122046	61										ovary(2)	2		Lung SC(185;0.0281)		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)										0.183673	17.942949	22.546817	9	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31526832	31526832	1769	13	C	A	A	A	377	29	C13orf26	5	2
BRCA2	675	broad.mit.edu	37	13	32914805	32914805	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32914805A>T	uc001uub.1	+	c.6313A>T	c.(6313-6315)ATA>TTA	p.I2105L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2105					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.333333	29.340537	30.078287	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32914805	32914805	1530	13	A	T	T	T	52	4	BRCA2	3	3
BRCA2	675	broad.mit.edu	37	13	32914807	32914807	+	Silent	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32914807A>C	uc001uub.1	+	c.6315A>C	c.(6313-6315)ATA>ATC	p.I2105I		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2105					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.333333	28.730694	29.473405	10	20	KEEP	---	---	---	---	capture		Silent	SNP	32914807	32914807	1530	13	A	C	C	C	176	14	BRCA2	4	4
SOHLH2	54937	broad.mit.edu	37	13	36747898	36747898	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36747898G>T	uc010tei.1	-	c.1162C>A	c.(1162-1164)CTG>ATG	p.L388M	SOHLH2_uc001uvj.2_Missense_Mutation_p.L311M	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	311					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)										0.267857	40.503601	43.225958	15	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36747898	36747898	15424	13	G	T	T	T	451	35	SOHLH2	2	2
POSTN	10631	broad.mit.edu	37	13	38172838	38172838	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38172838G>T	uc001uwo.3	-	c.26C>A	c.(25-27)TCT>TAT	p.S9Y	POSTN_uc001uwp.3_Missense_Mutation_p.S9Y|POSTN_uc001uwr.2_Missense_Mutation_p.S9Y|POSTN_uc001uwq.2_Missense_Mutation_p.S9Y|POSTN_uc010teu.1_Missense_Mutation_p.S9Y|POSTN_uc010tev.1_Missense_Mutation_p.S9Y|POSTN_uc010tew.1_Missense_Mutation_p.S9Y|POSTN_uc010tex.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	9					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.222222	22.423555	25.620134	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38172838	38172838	12688	13	G	T	T	T	429	33	POSTN	2	2
STOML3	161003	broad.mit.edu	37	13	39541096	39541096	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:39541096G>A	uc001uwx.2	-	c.742C>T	c.(742-744)CGC>TGC	p.R248C	STOML3_uc010tez.1_Missense_Mutation_p.R239C	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	248	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)										0.571429	48.90209	49.026522	16	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39541096	39541096	15835	13	G	A	A	A	494	38	STOML3	1	1
ELF1	1997	broad.mit.edu	37	13	41517129	41517129	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41517129G>T	uc001uxs.2	-	c.765C>A	c.(763-765)AAC>AAA	p.N255K	ELF1_uc010tfc.1_Missense_Mutation_p.N231K|ELF1_uc010acd.2_Missense_Mutation_p.N148K	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	255	ETS.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)										0.181818	12.83363	15.969411	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41517129	41517129	5244	13	G	T	T	T	620	48	ELF1	2	2
CPB2	1361	broad.mit.edu	37	13	46658375	46658375	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46658375T>G	uc001vaw.2	-	c.254A>C	c.(253-255)AAT>ACT	p.N85T	CPB2_uc001vax.2_Missense_Mutation_p.N85T	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	85					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)										0.12766	20.859568	33.540704	12	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46658375	46658375	3935	13	T	G	G	G	676	52	CPB2	4	4
RNASEH2B	79621	broad.mit.edu	37	13	51501614	51501614	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:51501614G>T	uc001vfa.3	+	c.136G>T	c.(136-138)GGA>TGA	p.G46*	RNASEH2B_uc001vfb.3_Nonsense_Mutation_p.G46*	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B isoform 1	46					RNA catabolic process	nucleus|ribonuclease H2 complex					0		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)										0.692308	91.438284	92.723251	27	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51501614	51501614	13890	13	G	T	T	T	455	35	RNASEH2B	5	2
PCDH17	27253	broad.mit.edu	37	13	58207450	58207450	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58207450C>G	uc001vhq.1	+	c.770C>G	c.(769-771)CCG>CGG	p.P257R	PCDH17_uc010aec.1_Missense_Mutation_p.P257R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	257	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.64	53.806117	54.237651	16	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207450	58207450	11932	13	C	G	G	G	299	23	PCDH17	3	3
PCDH17	27253	broad.mit.edu	37	13	58208528	58208528	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58208528C>A	uc001vhq.1	+	c.1848C>A	c.(1846-1848)GAC>GAA	p.D616E	PCDH17_uc010aec.1_Missense_Mutation_p.D616E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	616	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.214286	14.935358	17.045351	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58208528	58208528	11932	13	C	A	A	A	259	20	PCDH17	2	2
PCDH9	5101	broad.mit.edu	37	13	67800923	67800923	+	Silent	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67800923A>C	uc001vik.2	-	c.1650T>G	c.(1648-1650)CCT>CCG	p.P550P	PCDH9_uc001vil.2_Silent_p.P550P|PCDH9_uc010thl.1_Silent_p.P550P|PCDH9_uc001vin.3_Silent_p.P550P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	550	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.219512	19.261234	22.227493	9	32	KEEP	---	---	---	---	capture		Silent	SNP	67800923	67800923	11938	13	A	C	C	C	132	11	PCDH9	4	4
PCDH9	5101	broad.mit.edu	37	13	67801777	67801777	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67801777G>A	uc001vik.2	-	c.796C>T	c.(796-798)CCC>TCC	p.P266S	PCDH9_uc001vil.2_Missense_Mutation_p.P266S|PCDH9_uc010thl.1_Missense_Mutation_p.P266S|PCDH9_uc001vin.3_Missense_Mutation_p.P266S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	266	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.581818	101.405554	101.726437	32	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67801777	67801777	11938	13	G	A	A	A	533	41	PCDH9	2	2
MYCBP2	23077	broad.mit.edu	37	13	77755891	77755891	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77755891G>A	uc001vkf.2	-	c.4772C>T	c.(4771-4773)TCA>TTA	p.S1591L	MYCBP2_uc010aev.2_Missense_Mutation_p.S995L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1591					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)										0.111111	17.137944	41.358658	18	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77755891	77755891	10413	13	G	A	A	A	585	45	MYCBP2	2	2
POU4F1	5457	broad.mit.edu	37	13	79175840	79175840	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:79175840C>A	uc001vkv.2	-	c.970G>T	c.(970-972)GCG>TCG	p.A324S		NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	324	POU-specific.				axonogenesis|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)								0.833333	17.299987	17.911305	5	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79175840	79175840	12708	13	C	A	A	A	351	27	POU4F1	1	1
DCT	1638	broad.mit.edu	37	13	95121143	95121143	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:95121143C>G	uc010afh.2	-	c.452G>C	c.(451-453)AGA>ACA	p.R151T	DCT_uc001vlv.3_Missense_Mutation_p.R151T	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 2	151	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)										0.663082	657.875317	664.455476	185	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95121143	95121143	4475	13	C	G	G	G	416	32	DCT	3	3
EML1	2009	broad.mit.edu	37	14	100364625	100364625	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100364625T>C	uc001ygr.2	+	c.940T>C	c.(940-942)TCG>CCG	p.S314P	EML1_uc010avt.1_Missense_Mutation_p.S282P|EML1_uc010tww.1_Missense_Mutation_p.S283P|EML1_uc001ygq.2_Missense_Mutation_p.S314P|EML1_uc001ygs.2_Missense_Mutation_p.S295P	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	295	WD 1.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|ovary(1)|pancreas(1)	4		Melanoma(154;0.0879)|all_epithelial(191;0.216)												0.218182	29.069724	33.096933	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100364625	100364625	5288	14	T	C	C	C	650	50	EML1	4	4
C14orf68	283600	broad.mit.edu	37	14	100792133	100792133	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100792133G>T	uc001yhc.2	+	c.37G>T	c.(37-39)GGT>TGT	p.G13C	C14orf68_uc001yhd.2_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	13	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)												0.294118	14.973926	15.615481	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100792133	100792133	1828	14	G	T	T	T	507	39	C14orf68	1	1
WARS	7453	broad.mit.edu	37	14	100820131	100820131	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100820131C>G	uc001yhf.1	-	c.618G>C	c.(616-618)CTG>CTC	p.L206L	WARS_uc001yhe.1_Silent_p.L12L|WARS_uc001yhg.1_Silent_p.L206L|WARS_uc001yhh.1_Silent_p.L206L|WARS_uc001yhi.1_Silent_p.L165L|WARS_uc001yhj.1_Silent_p.L165L|WARS_uc001yhk.1_Silent_p.L165L|WARS_uc001yhl.1_Silent_p.L206L	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	206					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)									0.141414	26.38803	38.662227	14	85	KEEP	---	---	---	---	capture		Silent	SNP	100820131	100820131	17821	14	C	G	G	G	366	29	WARS	3	3
DYNC1H1	1778	broad.mit.edu	37	14	102508568	102508568	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102508568C>T	uc001yks.2	+	c.12218C>T	c.(12217-12219)TCT>TTT	p.S4073F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4073	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.131579	15.996361	26.022083	10	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102508568	102508568	5027	14	C	T	T	T	416	32	DYNC1H1	2	2
PACS2	23241	broad.mit.edu	37	14	105818725	105818725	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105818725G>A	uc001yqu.2	+	c.218G>A	c.(217-219)CGA>CAA	p.R73Q	PACS2_uc001yqs.2_Missense_Mutation_p.R6Q|PACS2_uc001yqv.2_Missense_Mutation_p.R73Q|PACS2_uc001yqt.2_Missense_Mutation_p.R73Q	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	73					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)								OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.23913	27.606174	30.46204	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105818725	105818725	11789	14	G	A	A	A	481	37	PACS2	1	1
OR11G2	390439	broad.mit.edu	37	14	20665698	20665698	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20665698C>G	uc010tlb.1	+	c.204C>G	c.(202-204)CTC>CTG	p.L68L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	68	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)										0.139241	20.26957	30.205868	11	68	KEEP	---	---	---	---	capture		Silent	SNP	20665698	20665698	11331	14	C	G	G	G	405	32	OR11G2	3	3
DAD1	1603	broad.mit.edu	37	14	23057909	23057909	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23057909G>A	uc001wgl.2	-	c.155C>T	c.(154-156)CCC>CTC	p.P52L		NM_001344	NP_001335	P61803	DAD1_HUMAN	defender against cell death 1	52					anti-apoptosis|apoptosis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			ovary(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)										0.210526	44.952864	52.314474	20	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23057909	23057909	4391	14	G	A	A	A	559	43	DAD1	2	2
RNF31	55072	broad.mit.edu	37	14	24629542	24629542	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24629542G>A	uc001wmn.1	+	c.3091G>A	c.(3091-3093)GAG>AAG	p.E1031K	RNF31_uc001wml.1_Missense_Mutation_p.E880K|RNF31_uc010alg.1_Missense_Mutation_p.E790K|RNF31_uc001wmo.1_Missense_Mutation_p.E498K|RNF31_uc001wmp.2_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.E215K|IRF9_uc001wmq.2_5'Flank|IRF9_uc010alj.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	1031					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)								OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.142857	13.931197	21.676869	9	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24629542	24629542	13966	14	G	A	A	A	585	45	RNF31	2	2
TINF2	26277	broad.mit.edu	37	14	24710289	24710289	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24710289C>T	uc001woa.3	-	c.541G>A	c.(541-543)GTC>ATC	p.V181I	TINF2_uc010alm.2_Missense_Mutation_p.V5I|TINF2_uc001wob.3_Missense_Mutation_p.V181I|TINF2_uc010tof.1_Missense_Mutation_p.V146I|TINF2_uc001woc.3_Intron	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	181					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding				0				GBM - Glioblastoma multiforme(265;0.0185)										0.174731	127.304352	164.512207	65	307	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24710289	24710289	16452	14	C	T	T	T	260	20	TINF2	2	2
STXBP6	29091	broad.mit.edu	37	14	25288401	25288401	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:25288401C>A	uc001wpu.2	-	c.452_splice	c.e5-1	p.G151_splice	STXBP6_uc001wpv.2_Splice_Site_SNP_p.G151_splice|STXBP6_uc001wpw.2_Splice_Site_SNP_p.G151_splice|STXBP6_uc001wpx.1_Splice_Site_SNP|STXBP6_uc001wpt.2_Nonsense_Mutation_p.G49*	NM_014178	NP_054897			amisyn						vesicle-mediated transport	cytoplasm|integral to membrane					0				GBM - Glioblastoma multiforme(265;0.0296)										0.187919	55.806301	69.398461	28	121	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	25288401	25288401	15878	14	C	A	A	A	312	24	STXBP6	5	2
NPAS3	64067	broad.mit.edu	37	14	34268993	34268993	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:34268993G>A	uc001wru.2	+	c.1480G>A	c.(1480-1482)GAA>AAA	p.E494K	NPAS3_uc001wrs.2_Missense_Mutation_p.E481K|NPAS3_uc001wrt.2_Missense_Mutation_p.E462K|NPAS3_uc001wrv.2_Missense_Mutation_p.E464K	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			ovary(1)	1	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)										0.25	10.593827	11.501758	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34268993	34268993	10968	14	G	A	A	A	481	37	NPAS3	1	1
SRP54	6729	broad.mit.edu	37	14	35482586	35482586	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:35482586C>T	uc001wso.2	+	c.671C>T	c.(670-672)TCC>TTC	p.S224F	SRP54_uc010tpp.1_Missense_Mutation_p.S175F|SRP54_uc010tpq.1_Missense_Mutation_p.S160F	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	224	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)										0.177419	22.999405	29.066459	11	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35482586	35482586	15669	14	C	T	T	T	390	30	SRP54	2	2
FSCB	84075	broad.mit.edu	37	14	44974965	44974965	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44974965G>T	uc001wvn.2	-	c.1226C>A	c.(1225-1227)CCA>CAA	p.P409Q		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	409	Pro-rich.					cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.103774	10.556149	27.111009	11	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44974965	44974965	6316	14	G	T	T	T	611	47	FSCB	2	2
FAM179B	23116	broad.mit.edu	37	14	45473285	45473285	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45473285G>T	uc001wvw.2	+	c.2360G>T	c.(2359-2361)GGC>GTC	p.G787V	FAM179B_uc001wvv.2_Missense_Mutation_p.G787V|FAM179B_uc010anc.2_Non-coding_Transcript|FAM179B_uc001wvu.2_Missense_Mutation_p.G787V	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	787							binding				0														0.0875	2.061673	15.835607	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45473285	45473285	5712	14	G	T	T	T	546	42	FAM179B	2	2
MDGA2	161357	broad.mit.edu	37	14	47426612	47426612	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47426612T>C	uc001wwj.3	-	c.1847A>G	c.(1846-1848)GAA>GGA	p.E616G	MDGA2_uc001wwi.3_Missense_Mutation_p.E387G|MDGA2_uc010ani.2_Missense_Mutation_p.E176G	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	616	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.511111	80.027723	80.032617	23	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47426612	47426612	9796	14	T	C	C	C	806	62	MDGA2	4	4
NIN	51199	broad.mit.edu	37	14	51224111	51224111	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51224111C>A	uc001wyi.2	-	c.3637G>T	c.(3637-3639)GAC>TAC	p.D1213Y	NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.D1219Y|NIN_uc001wym.2_Missense_Mutation_p.D1213Y|NIN_uc001wyo.2_Missense_Mutation_p.D1213Y	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	ninein isoform 2	1213	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	all_epithelial(31;0.00244)|Breast(41;0.127)									745				0.132743	17.632672	32.474474	15	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51224111	51224111	10818	14	C	A	A	A	390	30	NIN	2	2
CGRRF1	10668	broad.mit.edu	37	14	54976777	54976777	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:54976777G>T	uc001xay.2	+	c.100G>T	c.(100-102)GGA>TGA	p.G34*	CGRRF1_uc010tra.1_Nonsense_Mutation_p.G34*|CGRRF1_uc001xaz.2_Non-coding_Transcript	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	34					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1												OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.122807	9.686014	17.622012	7	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54976777	54976777	3439	14	G	T	T	T	559	43	CGRRF1	5	2
KIAA0586	9786	broad.mit.edu	37	14	58956902	58956902	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58956902T>C	uc001xdu.3	+	c.3757T>C	c.(3757-3759)TAC>CAC	p.Y1253H	KIAA0586_uc010trr.1_Missense_Mutation_p.Y1309H|KIAA0586_uc001xdt.3_Missense_Mutation_p.Y1224H|KIAA0586_uc010trs.1_Missense_Mutation_p.Y1183H|KIAA0586_uc001xdv.3_Missense_Mutation_p.Y1192H|KIAA0586_uc010trt.1_Missense_Mutation_p.Y1128H	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1192										ovary(1)	1														0.3	9.421897	9.778789	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58956902	58956902	8493	14	T	C	C	C	741	57	KIAA0586	4	4
SYNE2	23224	broad.mit.edu	37	14	64428341	64428341	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64428341C>T	uc001xgl.2	+	c.886C>T	c.(886-888)CAG>TAG	p.Q296*	SYNE2_uc001xgm.2_Nonsense_Mutation_p.Q296*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	296	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)										0.526316	59.799076	59.821819	20	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	64428341	64428341	15967	14	C	T	T	T	377	29	SYNE2	5	2
SPTB	6710	broad.mit.edu	37	14	65262078	65262078	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65262078T>C	uc001xhr.2	-	c.1621A>G	c.(1621-1623)ATC>GTC	p.I541V	SPTB_uc001xhs.2_Missense_Mutation_p.I541V|SPTB_uc001xht.2_Missense_Mutation_p.I541V|SPTB_uc001xhu.2_Missense_Mutation_p.I541V	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	541	Spectrin 3.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)										0.119048	6.955747	12.930716	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65262078	65262078	15632	14	T	C	C	C	663	51	SPTB	4	4
SIPA1L1	26037	broad.mit.edu	37	14	72055073	72055073	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72055073T>G	uc001xms.2	+	c.484T>G	c.(484-486)TCC>GCC	p.S162A	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S162A|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S162A|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S162A	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.154167	69.345267	96.769921	37	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72055073	72055073	14824	14	T	G	G	G	702	54	SIPA1L1	4	4
PAPLN	89932	broad.mit.edu	37	14	73725692	73725692	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:73725692C>T	uc010ttx.1	+	c.1633C>T	c.(1633-1635)CCC>TCC	p.P545S	PAPLN_uc001xnw.3_Missense_Mutation_p.P518S|PAPLN_uc010arl.2_Non-coding_Transcript|PAPLN_uc010ttw.1_Non-coding_Transcript|PAPLN_uc010tty.1_Missense_Mutation_p.P545S|PAPLN_uc010arm.2_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	545						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)										0.3	15.045105	15.758405	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73725692	73725692	11845	14	C	T	T	T	286	22	PAPLN	2	2
ESRRB	2103	broad.mit.edu	37	14	76905730	76905731	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76905730_76905731TG>CT	uc001xsr.2	+	c.34_35TG>CT	c.(34-36)TGC>CTC	p.C12L	ESRRB_uc001xso.2_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.C12L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	12					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0213)										0.59633	228.499295	229.385	65	44	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	76905730	76905731	5454	14	TG	CT	CT	CT	715	55	ESRRB	4	4
ADCK1	57143	broad.mit.edu	37	14	78392145	78392145	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:78392145C>T	uc001xui.2	+	c.1047C>T	c.(1045-1047)CTC>CTT	p.L349L	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.2_Silent_p.L281L|ADCK1_uc001xul.2_Silent_p.L56L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	356	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)						200				0.144828	36.277652	53.878206	21	124	KEEP	---	---	---	---	capture		Silent	SNP	78392145	78392145	289	14	C	T	T	T	405	32	ADCK1	2	2
NRXN3	9369	broad.mit.edu	37	14	79175701	79175701	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:79175701G>T	uc001xun.2	+	c.244G>T	c.(244-246)GAG>TAG	p.E82*	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Nonsense_Mutation_p.E216*	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	455	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.409836	139.516695	140.385548	50	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	79175701	79175701	11072	14	G	T	T	T	429	33	NRXN3	5	2
TSHR	7253	broad.mit.edu	37	14	81609869	81609869	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81609869G>A	uc001xvd.1	+	c.1467G>A	c.(1465-1467)CAG>CAA	p.Q489Q		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	489	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)	298				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)				p.Q489Q(HPBALL-Tumor)	868				0.116883	10.520377	21.638203	9	68	KEEP	---	---	---	---	capture		Silent	SNP	81609869	81609869	17173	14	G	A	A	A	425	33	TSHR	2	2
GALC	2581	broad.mit.edu	37	14	88431914	88431914	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88431914C>G	uc001xvt.2	-	c.968G>C	c.(967-969)GGG>GCG	p.G323A	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvx.1_Missense_Mutation_p.G297A|GALC_uc010tvy.1_Missense_Mutation_p.G300A|GALC_uc010tvz.1_Missense_Mutation_p.G267A|GALC_uc001xvu.1_Missense_Mutation_p.G323A	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	323			G -> R (in GLD).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0														0.375	40.633615	41.211154	15	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88431914	88431914	6465	14	C	G	G	G	286	22	GALC	3	3
CPSF2	53981	broad.mit.edu	37	14	92622823	92622823	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92622823A>T	uc001yah.1	+	c.1443A>T	c.(1441-1443)AAA>AAT	p.K481N		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	481					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		Ovarian(78;28 1788 18702 44111)								0.451128	179.977077	180.254257	60	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92622823	92622823	3963	14	A	T	T	T	128	10	CPSF2	3	3
BTBD7	55727	broad.mit.edu	37	14	93723643	93723643	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93723643C>A	uc001ybo.2	-	c.1506G>T	c.(1504-1506)CGG>CGT	p.R502R	BTBD7_uc010aur.2_Silent_p.R27R|BTBD7_uc010two.1_Silent_p.R322R|BTBD7_uc001ybp.2_Silent_p.R151R|BTBD7_uc001ybq.3_Silent_p.R417R	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	502										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)										0.186275	38.863017	48.272352	19	83	KEEP	---	---	---	---	capture		Silent	SNP	93723643	93723643	1580	14	C	A	A	A	275	22	BTBD7	2	2
KIAA1409	57578	broad.mit.edu	37	14	94007143	94007143	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94007143A>T	uc001ybv.1	+	c.959A>T	c.(958-960)CAG>CTG	p.Q320L	KIAA1409_uc001ybs.1_Missense_Mutation_p.Q320L|KIAA1409_uc001ybu.1_Missense_Mutation_p.Q258L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	497						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.246575	47.712412	51.981444	18	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94007143	94007143	8539	14	A	T	T	T	91	7	KIAA1409	3	3
SERPINA5	5104	broad.mit.edu	37	14	95056465	95056465	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95056465T>A	uc001ydm.2	+	c.707T>A	c.(706-708)ATG>AAG	p.M236K	SERPINA5_uc010ave.2_Missense_Mutation_p.M236K|SERPINA3_uc001ydo.3_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	236					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)									0.221053	51.331553	58.13059	21	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95056465	95056465	14580	14	T	A	A	A	663	51	SERPINA5	3	3
CLMN	79789	broad.mit.edu	37	14	95690107	95690107	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95690107C>A	uc001yef.2	-	c.230G>T	c.(229-231)GGG>GTG	p.G77V		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	77	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)										0.347222	71.851328	73.335554	25	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95690107	95690107	3680	14	C	A	A	A	286	22	CLMN	2	2
AK7	122481	broad.mit.edu	37	14	96871097	96871097	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96871097A>G	uc001yfn.2	+	c.298A>G	c.(298-300)ATC>GTC	p.I100V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	100	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)										0.354839	29.213872	29.790472	11	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96871097	96871097	447	14	A	G	G	G	104	8	AK7	4	4
AK7	122481	broad.mit.edu	37	14	96944912	96944912	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96944912G>T	uc001yfn.2	+	c.1666G>T	c.(1666-1668)GCT>TCT	p.A556S		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	556					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)										0.25	57.93325	63.82357	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96944912	96944912	447	14	G	T	T	T	546	42	AK7	2	2
OR4M2	390538	broad.mit.edu	37	15	22368930	22368930	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22368930G>T	uc010tzu.1	+	c.355G>T	c.(355-357)GCC>TCC	p.A119S	LOC727924_uc001yua.2_Non-coding_Transcript|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)										0.254545	134.934714	146.937885	56	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22368930	22368930	11486	15	G	T	T	T	546	42	OR4M2	2	2
MAGEL2	54551	broad.mit.edu	37	15	23889166	23889166	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23889166G>T	uc001ywj.3	-	c.1915C>A	c.(1915-1917)CCC>ACC	p.P639T		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)										1	27.916981	27.913071	8	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23889166	23889166	9572	15	G	T	T	T	559	43	MAGEL2	2	2
ATP10A	57194	broad.mit.edu	37	15	25958899	25958899	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:25958899G>T	uc010ayu.2	-	c.2266C>A	c.(2266-2268)CCG>ACG	p.P756T		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	756	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)						877				0.588235	30.151033	30.266511	10	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25958899	25958899	1135	15	G	T	T	T	559	43	ATP10A	2	2
ATP10A	57194	broad.mit.edu	37	15	25971134	25971134	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:25971134G>T	uc010ayu.2	-	c.943C>A	c.(943-945)CTG>ATG	p.L315M		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	315	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)						877				0.74	122.196266	124.804631	37	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25971134	25971134	1135	15	G	T	T	T	451	35	ATP10A	2	2
HERC2	8924	broad.mit.edu	37	15	28458898	28458898	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28458898T>A	uc001zbj.2	-	c.6776A>T	c.(6775-6777)CAG>CTG	p.Q2259L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2259					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				0.697674	98.454272	99.951008	30	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28458898	28458898	7341	15	T	A	A	A	715	55	HERC2	3	3
RYR3	6263	broad.mit.edu	37	15	33945072	33945072	+	Silent	SNP	C	A	A	rs61749016		TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33945072C>A	uc001zhi.2	+	c.4296C>A	c.(4294-4296)GGC>GGA	p.G1432G	RYR3_uc010bar.2_Silent_p.G1432G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1432	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.439024	54.08381	54.208117	18	23	KEEP	---	---	---	---	capture		Silent	SNP	33945072	33945072	14250	15	C	A	A	A	314	25	RYR3	2	2
RYR3	6263	broad.mit.edu	37	15	33961613	33961613	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33961613G>A	uc001zhi.2	+	c.5678G>A	c.(5677-5679)CGG>CAG	p.R1893Q	RYR3_uc010bar.2_Missense_Mutation_p.R1893Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1893	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.243902	26.440978	28.883689	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33961613	33961613	14250	15	G	A	A	A	507	39	RYR3	1	1
RYR3	6263	broad.mit.edu	37	15	33962620	33962620	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33962620G>T	uc001zhi.2	+	c.5723G>T	c.(5722-5724)GGG>GTG	p.G1908V	RYR3_uc010bar.2_Missense_Mutation_p.G1908V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1908	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.333333	8.890788	9.188611	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33962620	33962620	14250	15	G	T	T	T	559	43	RYR3	2	2
RYR3	6263	broad.mit.edu	37	15	34038351	34038351	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34038351C>G	uc001zhi.2	+	c.7982C>G	c.(7981-7983)ACG>AGG	p.T2661R	RYR3_uc010bar.2_Missense_Mutation_p.T2661R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2661	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.5	19.751022	19.751022	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34038351	34038351	14250	15	C	G	G	G	247	19	RYR3	3	3
ACTC1	70	broad.mit.edu	37	15	35085457	35085457	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35085457C>A	uc001ziu.1	-	c.443G>T	c.(442-444)GGC>GTC	p.G148V		NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	148					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			ovary(1)	1		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)										0.380952	44.48322	45.007422	16	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35085457	35085457	196	15	C	A	A	A	338	26	ACTC1	2	2
ATPBD4	89978	broad.mit.edu	37	15	35742976	35742976	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35742976C>A	uc001zja.2	-	c.415G>T	c.(415-417)GCT>TCT	p.A139S	ATPBD4_uc001ziz.2_Missense_Mutation_p.A123S	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	ATP binding domain 4 isoform 1	139											0		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)										0.666667	110.863403	112.116599	34	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35742976	35742976	1221	15	C	A	A	A	364	28	ATPBD4	2	2
BUB1B	701	broad.mit.edu	37	15	40462866	40462866	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40462866A>G	uc001zkx.3	+	c.368A>G	c.(367-369)AAT>AGT	p.N123S		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	123	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|protein phosphorylation|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)						298				0.128205	9.558445	14.801657	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40462866	40462866	1605	15	A	G	G	G	52	4	BUB1B	4	4
TTBK2	146057	broad.mit.edu	37	15	43038398	43038398	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43038398G>A	uc001zqo.2	-	c.3330C>T	c.(3328-3330)CGC>CGT	p.R1110R	TTBK2_uc010bcy.2_Silent_p.R1041R	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1110					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)	6		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)						253				0.833333	48.221303	50.111621	15	3	KEEP	---	---	---	---	capture		Silent	SNP	43038398	43038398	17231	15	G	A	A	A	535	42	TTBK2	2	2
SQRDL	58472	broad.mit.edu	37	15	45962136	45962136	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45962136G>T	uc001zvt.2	+	c.416G>T	c.(415-417)CGA>CTA	p.R139L	SQRDL_uc001zvu.2_Missense_Mutation_p.R139L|SQRDL_uc001zvv.2_Missense_Mutation_p.R139L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	sulfide dehydrogenase like precursor	139					oxidation-reduction process		oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)										0.772727	60.187218	61.692841	17	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45962136	45962136	15643	15	G	T	T	T	481	37	SQRDL	1	1
SLC12A1	6557	broad.mit.edu	37	15	48541794	48541794	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48541794C>T	uc001zwn.3	+	c.1707C>T	c.(1705-1707)CCC>CCT	p.P569P	SLC12A1_uc010uew.1_Silent_p.P375P|SLC12A1_uc010bem.2_Silent_p.P569P|SLC12A1_uc001zwq.3_Silent_p.P340P|SLC12A1_uc001zwr.3_Silent_p.P296P	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	569	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.583333	116.931127	117.294218	35	25	KEEP	---	---	---	---	capture		Silent	SNP	48541794	48541794	14877	15	C	T	T	T	262	21	SLC12A1	2	2
RORA	6095	broad.mit.edu	37	15	60803725	60803725	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:60803725G>C	uc002agv.2	-	c.619C>G	c.(619-621)CAG>GAG	p.Q207E	RORA_uc002agt.3_Missense_Mutation_p.Q119E|RORA_uc002agw.2_Missense_Mutation_p.Q199E|RORA_uc002agx.2_Missense_Mutation_p.Q174E	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	207	Hinge.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.142857	5.279529	8.724519	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60803725	60803725	14007	15	G	C	C	C	598	46	RORA	3	3
ANKDD1A	348094	broad.mit.edu	37	15	65242138	65242138	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65242138C>A	uc002aoa.2	+	c.1428C>A	c.(1426-1428)AAC>AAA	p.N476K	ANKDD1A_uc002aoc.2_Non-coding_Transcript|ANKDD1A_uc010bha.2_Missense_Mutation_p.N353K	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	476	Death.				signal transduction						0														0.576923	45.029703	45.164931	15	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65242138	65242138	627	15	C	A	A	A	233	18	ANKDD1A	2	2
LBXCOR1	390598	broad.mit.edu	37	15	68118621	68118621	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:68118621G>C	uc002aqy.1	+	c.428G>C	c.(427-429)GGC>GCC	p.G143A		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	152					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0														0.923077	43.898604	45.591921	12	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68118621	68118621	8978	15	G	C	C	C	546	42	LBXCOR1	3	3
SNX33	257364	broad.mit.edu	37	15	75942361	75942361	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75942361G>T	uc002bau.2	+	c.918G>T	c.(916-918)CGG>CGT	p.R306R	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	306	PX.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1														0.7	81.379031	82.797804	28	12	KEEP	---	---	---	---	capture		Silent	SNP	75942361	75942361	15403	15	G	T	T	T	522	41	SNX33	2	2
MORF4L1	10933	broad.mit.edu	37	15	79189395	79189395	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79189395C>G	uc002bel.2	+	c.1075C>G	c.(1075-1077)CGG>GGG	p.R359G	MORF4L1_uc002bem.2_Missense_Mutation_p.R320G|MORF4L1_uc010une.1_Missense_Mutation_p.R232G	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	359					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0														0.75	66.262885	67.627533	18	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79189395	79189395	10097	15	C	G	G	G	399	31	MORF4L1	3	3
AGBL1	123624	broad.mit.edu	37	15	87089366	87089366	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:87089366T>A	uc002blz.1	+	c.2679_splice	c.e19+2	p.R893_splice		NM_152336	NP_689549			ATP/GTP binding protein-like 1						C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.214286	21.357455	24.519387	9	33	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	87089366	87089366	377	15	T	A	A	A	741	57	AGBL1	5	3
NTRK3	4916	broad.mit.edu	37	15	88483884	88483884	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88483884C>A	uc002bme.1	-	c.1686G>T	c.(1684-1686)CCG>CCT	p.P562P	NTRK3_uc002bmh.2_Silent_p.P554P|NTRK3_uc002bmf.1_Silent_p.P562P|NTRK3_uc010upl.1_Silent_p.P464P|NTRK3_uc010bnh.1_Silent_p.P554P	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	562	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)						p.P562P(NCIH1975-Tumor)|p.P562P(DBTRG05MG-Tumor)	506	TSP Lung(13;0.10)			0.511628	137.00401	137.01429	44	42	KEEP	---	---	---	---	capture		Silent	SNP	88483884	88483884	11113	15	C	A	A	A	392	31	NTRK3	1	1
NTRK3	4916	broad.mit.edu	37	15	88678516	88678516	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88678516C>A	uc002bme.1	-	c.1020G>T	c.(1018-1020)CAG>CAT	p.Q340H	NTRK3_uc002bmh.2_Missense_Mutation_p.Q340H|NTRK3_uc002bmf.1_Missense_Mutation_p.Q340H|NTRK3_uc010upl.1_Missense_Mutation_p.Q242H|NTRK3_uc010bnh.1_Missense_Mutation_p.Q340H|NTRK3_uc002bmg.2_Missense_Mutation_p.Q340H	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	340	Ig-like C2-type 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)							506	TSP Lung(13;0.10)			0.705882	73.005302	74.29359	24	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88678516	88678516	11113	15	C	A	A	A	363	28	NTRK3	2	2
ACAN	176	broad.mit.edu	37	15	89386683	89386683	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89386683G>T	uc010upo.1	+	c.855G>T	c.(853-855)CAG>CAT	p.Q285H	ACAN_uc002bmx.2_Missense_Mutation_p.Q285H|ACAN_uc010upp.1_Missense_Mutation_p.Q285H|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)											0.666667	6.351446	6.424495	2	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89386683	89386683	118	15	G	T	T	T	438	34	ACAN	2	2
AP3S2	10239	broad.mit.edu	37	15	90454018	90454018	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90454018G>C	uc002bos.3	-	c.126C>G	c.(124-126)ATC>ATG	p.I42M	C15orf38_uc002bot.1_Non-coding_Transcript|C15orf38_uc002bou.2_Missense_Mutation_p.I42M	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)											0.457447	147.718039	147.865957	43	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90454018	90454018	760	15	G	C	C	C	473	37	AP3S2	3	3
UNC45A	55898	broad.mit.edu	37	15	91496492	91496492	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91496492C>T	uc002bqg.2	+	c.2529C>T	c.(2527-2529)GCC>GCT	p.A843A	UNC45A_uc002bqd.2_Silent_p.A828A|UNC45A_uc010uqr.1_Silent_p.A235A|UNC45A_uc002bqi.2_Silent_p.A121A|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	843					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)											0.107143	3.005149	7.292615	3	25	KEEP	---	---	---	---	capture		Silent	SNP	91496492	91496492	17546	15	C	T	T	T	262	21	UNC45A	2	2
VPS33B	26276	broad.mit.edu	37	15	91550237	91550237	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91550237C>A	uc002bqp.1	-	c.643G>T	c.(643-645)GAT>TAT	p.D215Y	VPS33B_uc002bqq.1_Missense_Mutation_p.D124Y|VPS33B_uc010uqu.1_Missense_Mutation_p.D188Y	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	215					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(1)	1	Lung NSC(78;0.0987)|all_lung(78;0.175)													0.232143	28.443634	32.126248	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91550237	91550237	17769	15	C	A	A	A	390	30	VPS33B	2	2
MCTP2	55784	broad.mit.edu	37	15	94927252	94927252	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:94927252G>T	uc002btj.2	+	c.1584G>T	c.(1582-1584)GGG>GGT	p.G528G	MCTP2_uc002bti.2_Silent_p.G528G|MCTP2_uc010boj.2_Silent_p.G257G|MCTP2_uc010bok.2_Silent_p.G528G|MCTP2_uc002btk.3_Silent_p.G116G|MCTP2_uc002btl.2_Silent_p.G116G	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	528	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)	2	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)											0.428571	42.018214	42.174105	15	20	KEEP	---	---	---	---	capture		Silent	SNP	94927252	94927252	9790	15	G	T	T	T	522	41	MCTP2	2	2
MCTP2	55784	broad.mit.edu	37	15	95001378	95001378	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:95001378A>G	uc002btj.2	+	c.2263A>G	c.(2263-2265)AAG>GAG	p.K755E	MCTP2_uc010boj.2_Missense_Mutation_p.K484E|MCTP2_uc010bok.2_Missense_Mutation_p.K700E|MCTP2_uc002btl.2_Missense_Mutation_p.K343E	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	755					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)	2	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)											0.12	5.30817	8.848198	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95001378	95001378	9790	15	A	G	G	G	13	1	MCTP2	4	4
TTC23	64927	broad.mit.edu	37	15	99696448	99696448	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:99696448C>A	uc002bur.2	-	c.1048G>T	c.(1048-1050)GAT>TAT	p.D350Y	TTC23_uc002bus.2_Missense_Mutation_p.D350Y|TTC23_uc002but.2_Missense_Mutation_p.D350Y|TTC23_uc002buu.2_Missense_Mutation_p.D350Y|TTC23_uc002buv.2_Missense_Mutation_p.D350Y|TTC23_uc002bux.2_Missense_Mutation_p.D350Y|TTC23_uc002buw.2_Missense_Mutation_p.D350Y|TTC23_uc010boq.2_Non-coding_Transcript|TTC23_uc002buy.2_Missense_Mutation_p.D350Y|TTC23_uc010bor.2_Missense_Mutation_p.D350Y|TTC23_uc002buz.2_Missense_Mutation_p.D350Y	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	350							binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)											0.545455	56.352245	56.411599	18	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99696448	99696448	17244	15	C	A	A	A	403	31	TTC23	1	1
UBE2I	7329	broad.mit.edu	37	16	1374771	1374771	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1374771G>T	uc002clc.1	+	c.454G>T	c.(454-456)GCC>TCC	p.A152S	UBE2I_uc002cld.1_Missense_Mutation_p.A152S|UBE2I_uc002clf.1_Missense_Mutation_p.A152S|UBE2I_uc002clg.1_Missense_Mutation_p.A152S	NM_194261	NP_919237	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	152					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|post-translational protein modification|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|specific transcriptional repressor activity|ubiquitin-protein ligase activity			breast(1)|skin(1)	2		Hepatocellular(780;0.00369)												0.384615	14.671578	14.82345	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1374771	1374771	17416	16	G	T	T	T	442	34	UBE2I	2	2
ERCC4	2072	broad.mit.edu	37	16	14042044	14042044	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14042044G>T	uc002dce.2	+	c.2591G>T	c.(2590-2592)CGC>CTC	p.R864L	ERCC4_uc010uyz.1_Missense_Mutation_p.R414L	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	864	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(3)|pancreas(1)	4										153				0.408163	62.995752	63.35535	20	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14042044	14042044	5408	16	G	T	T	T	494	38	ERCC4	1	1
TMC5	79838	broad.mit.edu	37	16	19477481	19477481	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19477481C>T	uc002dgc.3	+	c.1563C>T	c.(1561-1563)TCC>TCT	p.S521S	TMC5_uc010vaq.1_Silent_p.S521S|TMC5_uc002dgb.3_Silent_p.S521S|TMC5_uc010var.1_Silent_p.S521S|TMC5_uc002dgd.1_Silent_p.S275S|TMC5_uc002dge.3_Silent_p.S275S|TMC5_uc002dgf.3_Silent_p.S204S|TMC5_uc002dgg.3_Silent_p.S162S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	521	Extracellular (Potential).					integral to membrane					0														0.4	38.69406	38.95647	12	18	KEEP	---	---	---	---	capture		Silent	SNP	19477481	19477481	16518	16	C	T	T	T	301	24	TMC5	2	2
C16orf88	400506	broad.mit.edu	37	16	19725533	19725533	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19725533C>T	uc002dgq.2	-	c.825G>A	c.(823-825)AAG>AAA	p.K275K	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	275	Lys-rich.					nucleolus					0														0.352941	34.588496	35.23748	12	22	KEEP	---	---	---	---	capture		Silent	SNP	19725533	19725533	1894	16	C	T	T	T	311	24	C16orf88	2	2
PDILT	204474	broad.mit.edu	37	16	20384206	20384206	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20384206A>G	uc002dhc.1	-	c.836T>C	c.(835-837)CTG>CCG	p.L279P		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	279					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.485714	100.076341	100.090971	34	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20384206	20384206	12095	16	A	G	G	G	91	7	PDILT	4	4
DNAH3	55567	broad.mit.edu	37	16	21008707	21008707	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21008707C>A	uc010vbe.1	-	c.6499G>T	c.(6499-6501)GGT>TGT	p.G2167C		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2167	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.375	17.945961	18.165483	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21008707	21008707	4786	16	C	A	A	A	273	21	DNAH3	2	2
DNAH3	55567	broad.mit.edu	37	16	21133419	21133419	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21133419G>T	uc010vbe.1	-	c.1431C>A	c.(1429-1431)TAC>TAA	p.Y477*	DNAH3_uc002die.2_Nonsense_Mutation_p.Y448*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	477	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.240741	31.381298	34.671312	13	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21133419	21133419	4786	16	G	T	T	T	568	44	DNAH3	5	2
VWA3A	146177	broad.mit.edu	37	16	22134998	22134998	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22134998G>A	uc010vbq.1	+	c.1502G>A	c.(1501-1503)AGA>AAA	p.R501K	VWA3A_uc010bxd.2_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R509K	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	501						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)										0.382716	92.006748	92.98342	31	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22134998	22134998	17809	16	G	A	A	A	429	33	VWA3A	2	2
CACNG3	10368	broad.mit.edu	37	16	24373040	24373040	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24373040C>A	uc002dmf.2	+	c.804C>A	c.(802-804)TCC>TCA	p.S268S		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	268					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)										0.287356	68.043685	71.56939	25	62	KEEP	---	---	---	---	capture		Silent	SNP	24373040	24373040	2674	16	C	A	A	A	275	22	CACNG3	2	2
XPO6	23214	broad.mit.edu	37	16	28133055	28133055	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28133055G>A	uc002dpa.1	-	c.1795C>T	c.(1795-1797)CAG>TAG	p.Q599*	XPO6_uc002dpb.1_Nonsense_Mutation_p.Q585*|XPO6_uc010vcp.1_Nonsense_Mutation_p.Q599*	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	599					protein export from nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			ovary(1)|skin(1)	2														0.473684	84.121527	84.15583	27	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28133055	28133055	18031	16	G	A	A	A	585	45	XPO6	5	2
APOB48R	55911	broad.mit.edu	37	16	28508760	28508760	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28508760G>T	uc002dqb.1	+	c.2371G>T	c.(2371-2373)GCA>TCA	p.A791S	APOB48R_uc010byg.1_Missense_Mutation_p.A329S	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	791	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.347826	44.484259	45.425305	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28508760	28508760	797	16	G	T	T	T	442	34	APOB48R	2	2
QPRT	23475	broad.mit.edu	37	16	29706293	29706293	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29706293C>A	uc002dto.2	+	c.322C>A	c.(322-324)CTG>ATG	p.L108M	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_Intron	NM_014298	NP_055113	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	108					protein oligomerization|quinolinate catabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity				0					Niacin(DB00627)									0.428571	16.646472	16.709001	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29706293	29706293	13334	16	C	A	A	A	363	28	QPRT	2	2
C16orf92	146378	broad.mit.edu	37	16	30035398	30035398	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30035398G>A	uc002dvs.2	+	c.368G>A	c.(367-369)TGC>TAC	p.C123Y	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.C101Y	NM_001109660	NP_001103130	Q96LL3	CP092_HUMAN	hypothetical protein LOC146378 isoform 2	123						integral to membrane					0														0.096774	1.401601	6.453469	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30035398	30035398	1898	16	G	A	A	A	598	46	C16orf92	2	2
MAPK3	5595	broad.mit.edu	37	16	30129042	30129042	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30129042G>T	uc002dws.2	-	c.724C>A	c.(724-726)CGG>AGG	p.R242R	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Silent_p.R128R|MAPK3_uc002dwv.3_Silent_p.R242R|MAPK3_uc002dwt.2_Silent_p.R242R|MAPK3_uc002dwu.2_Non-coding_Transcript|MAPK3_uc010bzp.2_Non-coding_Transcript	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	242	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)				p.R242W(SKUT1-Tumor)	91				0.362319	76.660917	77.809949	25	44	KEEP	---	---	---	---	capture		Silent	SNP	30129042	30129042	9662	16	G	T	T	T	506	39	MAPK3	1	1
PRSS53	339105	broad.mit.edu	37	16	31096568	31096568	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31096568C>G	uc002eaq.2	-	c.897G>C	c.(895-897)TTG>TTC	p.L299F	PRSS53_uc002ear.2_Missense_Mutation_p.L93F	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	299	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity				0														0.5	13.299979	13.299979	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31096568	31096568	13083	16	C	G	G	G	376	29	PRSS53	3	3
ITGAX	3687	broad.mit.edu	37	16	31374272	31374272	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31374272G>T	uc002ebt.2	+	c.1376G>T	c.(1375-1377)GGG>GTG	p.G459V	ITGAX_uc002ebu.1_Missense_Mutation_p.G459V|ITGAX_uc010vfk.1_Missense_Mutation_p.G109V	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	459	FG-GAP 5.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.257143	23.365493	25.232199	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31374272	31374272	8193	16	G	T	T	T	559	43	ITGAX	2	2
ITGAD	3681	broad.mit.edu	37	16	31419751	31419751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31419751C>T	uc010cap.1	+	c.1015C>T	c.(1015-1017)CAG>TAG	p.Q339*	ITGAD_uc010vfl.1_3'UTR|ITGAD_uc002ebv.1_Nonsense_Mutation_p.Q339*|ITGAD_uc002ebw.1_3'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	339	Extracellular (Potential).|FG-GAP 3.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.322581	28.437543	29.304849	10	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31419751	31419751	8188	16	C	T	T	T	273	21	ITGAD	5	2
TIGD7	91151	broad.mit.edu	37	16	3350041	3350041	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3350041G>A	uc002cus.2	-	c.574C>T	c.(574-576)CAG>TAG	p.Q192*	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	192	DDE.					chromosome, centromeric region|nucleus	DNA binding				0														0.293103	42.148083	44.373399	17	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3350041	3350041	16430	16	G	A	A	A	585	45	TIGD7	5	2
NAT15	79903	broad.mit.edu	37	16	3532549	3532549	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3532549G>T	uc002cvh.3	+	c.288G>T	c.(286-288)GCG>GCT	p.A96A	NAT15_uc010uxb.1_Silent_p.A103A|NAT15_uc010btk.1_Silent_p.A31A|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Silent_p.A96A|NAT15_uc010uxc.1_Silent_p.A96A|NAT15_uc010uxd.1_Non-coding_Transcript|NAT15_uc010uxe.1_Non-coding_Transcript|NAT15_uc002cvg.1_Silent_p.A96A	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN	N-acetyltransferase 15	96	N-acetyltransferase.						N-acetyltransferase activity				0														0.285714	11.294374	11.871139	4	10	KEEP	---	---	---	---	capture		Silent	SNP	3532549	3532549	10572	16	G	T	T	T	509	40	NAT15	1	1
AXIN1	8312	broad.mit.edu	37	16	364636	364636	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:364636C>A	uc002cgp.1	-	c.926G>T	c.(925-927)GGC>GTC	p.G309V	AXIN1_uc002cgq.1_Missense_Mutation_p.G309V	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	309	Interaction with TP53 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription elongation from RNA polymerase II promoter|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			liver(1)	1		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)								659				0.375	7.823006	7.932708	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	364636	364636	1257	16	C	A	A	A	338	26	AXIN1	2	2
BTBD12	84464	broad.mit.edu	37	16	3658545	3658545	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3658545C>A	uc002cvp.2	-	c.421G>T	c.(421-423)GGG>TGG	p.G141W	BTBD12_uc002cvq.1_Missense_Mutation_p.G141W	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	141	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0														0.333333	19.681812	20.277361	8	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3658545	3658545	1572	16	C	A	A	A	286	22	BTBD12	2	2
SALL1	6299	broad.mit.edu	37	16	51175296	51175296	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51175296G>T	uc010vgs.1	-	c.837C>A	c.(835-837)GCC>GCA	p.A279A	SALL1_uc010vgr.1_Silent_p.A182A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	279					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.47619	93.454684	93.484902	30	33	KEEP	---	---	---	---	capture		Silent	SNP	51175296	51175296	14290	16	G	T	T	T	600	47	SALL1	2	2
RBL2	5934	broad.mit.edu	37	16	53524047	53524047	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:53524047G>C	uc002ehi.3	+	c.3255G>C	c.(3253-3255)CTG>CTC	p.L1085L	RBL2_uc002ehj.2_Silent_p.L795L|RBL2_uc010vgw.1_Silent_p.L464L	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1085					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)	4										265				0.676471	82.335686	83.274937	23	11	KEEP	---	---	---	---	capture		Silent	SNP	53524047	53524047	13571	16	G	C	C	C	574	45	RBL2	3	3
CDH8	1006	broad.mit.edu	37	16	62055059	62055059	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:62055059G>T	uc002eog.1	-	c.249C>A	c.(247-249)GGC>GGA	p.G83G		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	83	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.588235	63.003717	63.234408	20	14	KEEP	---	---	---	---	capture		Silent	SNP	62055059	62055059	3245	16	G	T	T	T	535	42	CDH8	2	2
CBFB	865	broad.mit.edu	37	16	67070584	67070584	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67070584C>T	uc002erb.2	+	c.208C>T	c.(208-210)CCG>TCG	p.P70S	CBFB_uc002era.2_Missense_Mutation_p.P70S|CBFB_uc010vja.1_Intron	NM_022845	NP_074036	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 1	70					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)						25				0.454545	28.14848	28.187738	10	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67070584	67070584	2818	16	C	T	T	T	390	30	CBFB	2	2
GFOD2	81577	broad.mit.edu	37	16	67709752	67709752	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67709752C>A	uc002eub.2	-	c.464G>T	c.(463-465)GGC>GTC	p.G155V	GFOD2_uc002eua.1_Non-coding_Transcript|GFOD2_uc002euc.2_Missense_Mutation_p.G50V	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	155					oxidation-reduction process	proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)	2		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)										0.761905	51.108357	52.4239	16	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67709752	67709752	6612	16	C	A	A	A	338	26	GFOD2	2	2
HYDIN	54768	broad.mit.edu	37	16	70905949	70905949	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70905949G>T	uc002ezr.2	-	c.11079C>A	c.(11077-11079)TTC>TTA	p.F3693L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3694										ovary(1)	1		Ovarian(137;0.0654)												0.5	60.699086	60.699086	20	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70905949	70905949	7767	16	G	T	T	T	425	33	HYDIN	2	2
KIAA0174	9798	broad.mit.edu	37	16	71950431	71950431	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71950431C>G	uc002fbk.1	+	c.155C>G	c.(154-156)GCT>GGT	p.A52G	KIAA0174_uc002fbj.1_Missense_Mutation_p.A65G|KIAA0174_uc010cgh.1_Missense_Mutation_p.A65G|KIAA0174_uc002fbm.1_Missense_Mutation_p.A52G|KIAA0174_uc002fbl.1_Missense_Mutation_p.A52G|KIAA0174_uc002fbn.1_Intron|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_5'UTR|KIAA0174_uc010vmk.1_Intron	NM_014761	NP_055576	P53990	IST1_HUMAN	MAPK activating protein PM28	52	Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1														0.210526	9.99279	11.46314	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71950431	71950431	8465	16	C	G	G	G	364	28	KIAA0174	3	3
WDR59	79726	broad.mit.edu	37	16	74946198	74946198	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74946198C>A	uc002fdh.1	-	c.1287G>T	c.(1285-1287)ATG>ATT	p.M429I	WDR59_uc002fdi.2_Missense_Mutation_p.M429I|WDR59_uc002fdj.2_Missense_Mutation_p.M429I|WDR59_uc002fdg.1_Missense_Mutation_p.M21I	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	429	RWD.									ovary(1)|breast(1)	2														0.735294	80.386645	82.08649	25	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74946198	74946198	17881	16	C	A	A	A	325	25	WDR59	2	2
A2BP1	54715	broad.mit.edu	37	16	7568279	7568279	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:7568279C>A	uc010uxz.1	+	c.287C>A	c.(286-288)ACA>AAA	p.T96K	A2BP1_uc010buf.1_Missense_Mutation_p.T53K|A2BP1_uc002cyr.1_Missense_Mutation_p.T53K|A2BP1_uc002cys.2_Missense_Mutation_p.T53K|A2BP1_uc002cyt.2_Missense_Mutation_p.T53K|A2BP1_uc010uya.1_Missense_Mutation_p.T89K|A2BP1_uc002cyv.1_Missense_Mutation_p.T53K|A2BP1_uc010uyb.1_Missense_Mutation_p.T53K|A2BP1_uc002cyw.2_Missense_Mutation_p.T73K|A2BP1_uc002cyy.2_Missense_Mutation_p.T73K|A2BP1_uc002cyx.2_Missense_Mutation_p.T73K|A2BP1_uc010uyc.1_Missense_Mutation_p.T73K	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	53					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)										0.380282	79.104787	79.998454	27	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7568279	7568279	3	16	C	A	A	A	221	17	A2BP1	2	2
CNTNAP4	85445	broad.mit.edu	37	16	76482755	76482755	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76482755G>T	uc002fex.1	+	c.843G>T	c.(841-843)CAG>CAT	p.Q281H	CNTNAP4_uc002feu.1_Missense_Mutation_p.Q278H|CNTNAP4_uc002fev.1_Missense_Mutation_p.Q190H|CNTNAP4_uc010chb.1_Missense_Mutation_p.Q253H|CNTNAP4_uc002few.2_Missense_Mutation_p.Q253H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	278	Extracellular (Potential).|Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.56	44.651877	44.73009	14	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76482755	76482755	3787	16	G	T	T	T	438	34	CNTNAP4	2	2
ADAMTS18	170692	broad.mit.edu	37	16	77396100	77396100	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77396100G>C	uc002ffc.3	-	c.1118C>G	c.(1117-1119)TCT>TGT	p.S373C	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S69C|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	373	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12									p.S373F(HCT15-Tumor)	1451				0.756757	101.318799	103.5418	28	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77396100	77396100	264	16	G	C	C	C	429	33	ADAMTS18	3	3
NUDT7	283927	broad.mit.edu	37	16	77769779	77769779	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77769779G>A	uc010chd.2	+	c.244G>A	c.(244-246)GAC>AAC	p.D82N	NUDT7_uc010vnj.1_Intron	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	82	Nudix hydrolase.|Nudix box.				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														0.666667	149.868582	151.566405	46	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77769779	77769779	11149	16	G	A	A	A	429	33	NUDT7	2	2
NARFL	64428	broad.mit.edu	37	16	780984	780984	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:780984C>A	uc002cjr.2	-	c.1051G>T	c.(1051-1053)GAG>TAG	p.E351*	NARFL_uc002cjp.2_Nonsense_Mutation_p.E249*|NARFL_uc002cjq.2_Nonsense_Mutation_p.E249*|NARFL_uc002cjs.2_Nonsense_Mutation_p.E133*	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	351					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	6.459658	6.525399	2	1	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	780984	780984	10564	16	C	A	A	A	390	30	NARFL	5	2
C16orf68	79091	broad.mit.edu	37	16	8722919	8722919	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:8722919G>T	uc002cyz.2	+	c.466G>T	c.(466-468)GTC>TTC	p.V156F	C16orf68_uc002cza.2_Missense_Mutation_p.V100F	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	156							methyltransferase activity				0														0.292308	55.313207	57.815524	19	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8722919	8722919	1880	16	G	T	T	T	520	40	C16orf68	1	1
SPG7	6687	broad.mit.edu	37	16	89611126	89611126	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89611126G>A	uc002fnj.2	+	c.1395G>A	c.(1393-1395)CTG>CTA	p.L465L	SPG7_uc002fnk.1_Non-coding_Transcript	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	465	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)										0.380952	20.970775	21.239539	8	13	KEEP	---	---	---	---	capture		Silent	SNP	89611126	89611126	15556	16	G	A	A	A	574	45	SPG7	2	2
TUBB3	10381	broad.mit.edu	37	16	90001393	90001393	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:90001393G>T	uc002fpf.2	+	c.1575G>T	c.(1573-1575)ACG>ACT	p.T525T	TUBB3_uc010ciz.1_Silent_p.T106T|TUBB3_uc002fpg.1_Silent_p.T32T|TUBB3_uc002fph.1_Silent_p.T178T|TUBB3_uc002fpi.1_Silent_p.T106T|TUBB3_uc002fpj.1_Silent_p.T106T|TUBB3_uc010cjb.1_Silent_p.T32T|TUBB3_uc002fpk.1_Silent_p.T32T	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	178					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)										0.619048	86.26487	86.791211	26	16	KEEP	---	---	---	---	capture		Silent	SNP	90001393	90001393	17312	16	G	T	T	T	496	39	TUBB3	1	1
MYH1	4619	broad.mit.edu	37	17	10406170	10406170	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10406170T>C	uc002gmo.2	-	c.2996A>G	c.(2995-2997)GAG>GGG	p.E999G		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	999	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.266667	58.778774	62.458751	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10406170	10406170	10424	17	T	C	C	C	702	54	MYH1	4	4
MYH2	4620	broad.mit.edu	37	17	10432343	10432343	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10432343G>T	uc010coi.2	-	c.3408C>A	c.(3406-3408)GCC>GCA	p.A1136A	MYH2_uc002gmp.3_Silent_p.A1136A|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1136	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.34375	32.01479	32.705113	11	21	KEEP	---	---	---	---	capture		Silent	SNP	10432343	10432343	10430	17	G	T	T	T	600	47	MYH2	2	2
DNAH9	1770	broad.mit.edu	37	17	11550479	11550479	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11550479A>G	uc002gne.2	+	c.2061A>G	c.(2059-2061)CCA>CCG	p.P687P		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	687	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.418919	93.614685	94.038482	31	43	KEEP	---	---	---	---	capture		Silent	SNP	11550479	11550479	4791	17	A	G	G	G	80	7	DNAH9	4	4
FBXW10	10517	broad.mit.edu	37	17	18668095	18668095	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18668095G>T	uc002gul.2	+	c.1561G>T	c.(1561-1563)GGT>TGT	p.G521C	FBXW10_uc002guj.2_Missense_Mutation_p.G492C|FBXW10_uc002guk.2_Missense_Mutation_p.G492C|FBXW10_uc010cqh.1_Missense_Mutation_p.G492C	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	492										ovary(1)	1														0.134615	11.496603	18.221122	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18668095	18668095	6000	17	G	T	T	T	507	39	FBXW10	1	1
ULK2	9706	broad.mit.edu	37	17	19700851	19700851	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19700851C>A	uc002gwm.3	-	c.1667G>T	c.(1666-1668)GGG>GTG	p.G556V	ULK2_uc002gwn.2_Missense_Mutation_p.G556V	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	556					protein phosphorylation|signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)									475				0.631579	38.002794	38.291616	12	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19700851	19700851	17534	17	C	A	A	A	286	22	ULK2	2	2
SLC6A4	6532	broad.mit.edu	37	17	28537564	28537564	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28537564C>A	uc002hey.3	-	c.1418G>T	c.(1417-1419)TGC>TTC	p.C473F	SLC6A4_uc010csg.2_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	473	Helical; Name=9; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|integral to plasma membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			ovary(1)	1					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)									0.61039	149.335915	150.156599	47	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28537564	28537564	15183	17	C	A	A	A	325	25	SLC6A4	2	2
UTP6	55813	broad.mit.edu	37	17	30190500	30190500	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30190500G>A	uc002hgr.2	-	c.1672C>T	c.(1672-1674)CAC>TAC	p.H558Y	UTP6_uc002hgq.2_Missense_Mutation_p.H374Y|UTP6_uc010cst.2_Missense_Mutation_p.H407Y	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	558					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)												0.172414	22.912776	28.793176	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30190500	30190500	17667	17	G	A	A	A	611	47	UTP6	2	2
RHOT1	55288	broad.mit.edu	37	17	30538198	30538198	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30538198C>G	uc002hgw.2	+	c.1899C>G	c.(1897-1899)TTC>TTG	p.F633L	RHOT1_uc002hgy.2_Missense_Mutation_p.F601L|RHOT1_uc002hgz.2_Intron|RHOT1_uc002hha.2_Intron|RHOT1_uc010csv.2_Non-coding_Transcript|RHOT1_uc002hgx.2_Intron|RHOT1_uc010wby.1_Intron|RHOT1_uc002hhb.2_Intron	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	ras homolog gene family, member T1 isoform 1	Error:Variant_position_missing_in_Q8IXI2_after_alignment					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|hydrolase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)												0.296296	47.778166	49.782614	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30538198	30538198	13818	17	C	G	G	G	389	30	RHOT1	3	3
RHBDL3	162494	broad.mit.edu	37	17	30632417	30632417	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30632417G>C	uc002hhe.1	+	c.839G>C	c.(838-840)GGG>GCG	p.G280A	RHBDL3_uc010csw.1_Missense_Mutation_p.G272A|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.G182A|RHBDL3_uc002hhf.1_Missense_Mutation_p.G182A	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	280	Helical; (Potential).					integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)												0.090909	0.443826	9.716855	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30632417	30632417	13798	17	G	C	C	C	559	43	RHBDL3	3	3
PSMD11	5717	broad.mit.edu	37	17	30807572	30807572	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30807572G>T	uc010cta.1	+	c.1192G>T	c.(1192-1194)GAA>TAA	p.E398*	PSMD11_uc002hhm.2_Nonsense_Mutation_p.E398*	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	398					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)								0.342857	69.779475	71.306229	24	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30807572	30807572	13147	17	G	T	T	T	481	37	PSMD11	5	1
CCL1	6346	broad.mit.edu	37	17	32688818	32688818	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32688818G>A	uc002hid.1	-	c.174C>T	c.(172-174)TCC>TCT	p.S58S		NM_002981	NP_002972	P22362	CCL1_HUMAN	small inducible cytokine A1 precursor	58					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				0		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)								OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.15625	124.393792	171.330169	65	351	KEEP	---	---	---	---	capture		Silent	SNP	32688818	32688818	3007	17	G	A	A	A	600	47	CCL1	2	2
TMEM132E	124842	broad.mit.edu	37	17	32963124	32963124	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32963124C>A	uc002hif.2	+	c.1806C>A	c.(1804-1806)GCC>GCA	p.A602A		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	602	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.733333	36.831721	37.569835	11	4	KEEP	---	---	---	---	capture		Silent	SNP	32963124	32963124	16580	17	C	A	A	A	262	21	TMEM132E	2	2
SLFN5	162394	broad.mit.edu	37	17	33592869	33592869	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33592869G>T	uc002hjf.3	+	c.2638G>T	c.(2638-2640)GCA>TCA	p.A880S	SLFN5_uc010wcg.1_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	880					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)										0.1	2.301759	7.097433	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33592869	33592869	15235	17	G	T	T	T	546	42	SLFN5	2	2
C17orf66	256957	broad.mit.edu	37	17	34191867	34191867	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34191867G>A	uc002hke.1	-	c.348C>T	c.(346-348)CAC>CAT	p.H116H	C17orf66_uc010wck.1_Intron|C17orf66_uc010wcl.1_Intron|C17orf66_uc010wcm.1_Silent_p.H82H	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	116							binding			breast(2)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)										0.251908	80.710316	88.036027	33	98	KEEP	---	---	---	---	capture		Silent	SNP	34191867	34191867	1931	17	G	A	A	A	620	48	C17orf66	2	2
HNF1B	6928	broad.mit.edu	37	17	36104797	36104797	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36104797C>A	uc002hok.3	-	c.79G>T	c.(79-81)GTT>TTT	p.V27F	HNF1B_uc010wdi.1_Missense_Mutation_p.V27F	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	27	Dimerization (By similarity).				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			Colon(71;102 1179 9001 27917 43397)				411				0.102041	4.138752	11.875693	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36104797	36104797	7544	17	C	A	A	A	234	18	HNF1B	2	2
SRCIN1	80725	broad.mit.edu	37	17	36707497	36707497	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36707497G>C	uc002hqd.2	-	c.2856C>G	c.(2854-2856)AGC>AGG	p.S952R	SRCIN1_uc002hqf.1_Missense_Mutation_p.S824R|SRCIN1_uc002hqe.2_Missense_Mutation_p.S806R	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	824					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0														0.357143	13.166186	13.419826	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36707497	36707497	15650	17	G	C	C	C	594	46	SRCIN1	3	3
KRT12	3859	broad.mit.edu	37	17	39022437	39022437	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39022437G>T	uc002hvk.2	-	c.620C>A	c.(619-621)GCG>GAG	p.A207E		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	207	Rod.|Coil 1B.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)												0.15	17.239636	24.282067	9	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39022437	39022437	8764	17	G	T	T	T	494	38	KRT12	1	1
KRT31	3881	broad.mit.edu	37	17	39551497	39551497	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39551497C>T	uc002hwn.2	-	c.876G>A	c.(874-876)CTG>CTA	p.L292L	KRT31_uc010cxn.2_Silent_p.L292L	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	292	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)												0.076923	-1.013045	13.286031	6	72	KEEP	---	---	---	---	capture		Silent	SNP	39551497	39551497	8782	17	C	T	T	T	262	21	KRT31	2	2
KRT9	3857	broad.mit.edu	37	17	39727994	39727994	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39727994C>A	uc002hxe.3	-	c.251G>T	c.(250-252)AGT>ATT	p.S84I	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	84	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)												0.538462	22.526221	22.543033	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39727994	39727994	8816	17	C	A	A	A	260	20	KRT9	2	2
ZZEF1	23140	broad.mit.edu	37	17	3974200	3974200	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3974200C>A	uc002fxe.2	-	c.3853G>T	c.(3853-3855)GAC>TAC	p.D1285Y	ZZEF1_uc002fxj.1_5'UTR	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1285					regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	calcium ion binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.766667	81.742379	83.699529	23	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3974200	3974200	18861	17	C	A	A	A	403	31	ZZEF1	1	1
AOC3	8639	broad.mit.edu	37	17	41006663	41006663	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41006663C>G	uc002ibv.2	+	c.1799C>G	c.(1798-1800)CCC>CGC	p.P600R		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	600	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response|oxidation-reduction process	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)	3		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	NSCLC(3;192 220 10664 11501 16477)								0.3125	25.537307	26.539462	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41006663	41006663	738	17	C	G	G	G	286	22	AOC3	3	3
SLC25A39	51629	broad.mit.edu	37	17	42398096	42398096	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42398096A>G	uc002ign.2	-	c.695T>C	c.(694-696)CTG>CCG	p.L232P	SLC25A39_uc002igm.2_Missense_Mutation_p.L224P|SLC25A39_uc002igo.2_Missense_Mutation_p.L224P|SLC25A39_uc010wiw.1_Missense_Mutation_p.L209P|SLC25A39_uc010czu.2_Missense_Mutation_p.L100P|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	232	Helical; Name=4; (Potential).|Solcar 2.				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)										0.740741	69.903715	71.319065	20	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42398096	42398096	15000	17	A	G	G	G	91	7	SLC25A39	4	4
DBF4B	80174	broad.mit.edu	37	17	42815766	42815766	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42815766G>T	uc002ihf.2	+	c.687G>T	c.(685-687)CCG>CCT	p.P229P	DBF4B_uc010wjb.1_Non-coding_Transcript|DBF4B_uc002ihe.2_Silent_p.P43P|DBF4B_uc010wjc.1_Silent_p.P213P	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	229					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)												0.220779	41.137858	46.661908	17	60	KEEP	---	---	---	---	capture		Silent	SNP	42815766	42815766	4420	17	G	T	T	T	509	40	DBF4B	1	1
ADAM11	4185	broad.mit.edu	37	17	42854536	42854536	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42854536G>T	uc002ihh.2	+	c.1684G>T	c.(1684-1686)GCT>TCT	p.A562S	ADAM11_uc010wjd.1_Missense_Mutation_p.A362S|ADAM11_uc002ihi.2_5'Flank	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	562	Cys-rich.|Extracellular (Potential).				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)												0.764706	40.581587	41.670341	13	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42854536	42854536	236	17	G	T	T	T	546	42	ADAM11	2	2
ARHGAP27	201176	broad.mit.edu	37	17	43473953	43473953	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43473953T>C	uc002iix.2	-	c.1052_splice	c.e13-1	p.D351_splice	ARHGAP27_uc010dak.2_Splice_Site_SNP_p.D324_splice	NM_199282	NP_954976			Rho GTPase activating protein 27 isoform a						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)													0.333333	15.930353	16.380051	6	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	43473953	43473953	888	17	T	C	C	C	689	53	ARHGAP27	5	4
KIAA1267	284058	broad.mit.edu	37	17	44127983	44127983	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44127983G>A	uc002ikb.2	-	c.1936C>T	c.(1936-1938)CCC>TCC	p.P646S	KIAA1267_uc002ikc.2_Missense_Mutation_p.P646S|KIAA1267_uc002ikd.2_Missense_Mutation_p.P646S|KIAA1267_uc010dav.2_Missense_Mutation_p.P646S	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	646						MLL1 complex	protein binding				0		Melanoma(429;0.211)												0.068182	-5.216294	11.765352	6	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44127983	44127983	8528	17	G	A	A	A	533	41	KIAA1267	2	2
CA10	56934	broad.mit.edu	37	17	50008362	50008362	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:50008362C>A	uc002itv.3	-	c.285G>T	c.(283-285)ACG>ACT	p.T95T	CA10_uc002itw.3_Silent_p.T89T|CA10_uc002itx.3_Silent_p.T89T|CA10_uc002ity.3_Silent_p.T89T|CA10_uc002itz.2_Silent_p.T89T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	89					brain development					ovary(1)	1			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)											0.467836	503.840267	504.149212	160	182	KEEP	---	---	---	---	capture		Silent	SNP	50008362	50008362	2627	17	C	A	A	A	288	23	CA10	1	1
KIF2B	84643	broad.mit.edu	37	17	51901441	51901441	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901441C>A	uc002iua.2	+	c.1047C>A	c.(1045-1047)GAC>GAA	p.D349E		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	349	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.134328	13.326077	22.018521	9	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51901441	51901441	8609	17	C	A	A	A	233	18	KIF2B	2	2
TOM1L1	10040	broad.mit.edu	37	17	53027483	53027483	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:53027483A>G	uc002iud.2	+	c.1366A>G	c.(1366-1368)ACA>GCA	p.T456A	TOM1L1_uc010dca.1_Missense_Mutation_p.T445A|TOM1L1_uc010wnb.1_Missense_Mutation_p.T449A|TOM1L1_uc010wnc.1_Missense_Mutation_p.T379A|TOM1L1_uc010dbz.2_Missense_Mutation_p.T379A|TOM1L1_uc010wnd.1_Missense_Mutation_p.T344A	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	456					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1														0.2	12.661672	14.753367	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53027483	53027483	16893	17	A	G	G	G	182	14	TOM1L1	4	4
ANKFN1	162282	broad.mit.edu	37	17	54520214	54520214	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:54520214A>G	uc002iun.1	+	c.1028A>G	c.(1027-1029)TAT>TGT	p.Y343C		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	343	Fibronectin type-III.									large_intestine(1)|ovary(1)	2														0.394558	188.00551	189.43918	58	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54520214	54520214	628	17	A	G	G	G	208	16	ANKFN1	4	4
COIL	8161	broad.mit.edu	37	17	55027749	55027749	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:55027749G>C	uc002iuu.2	-	c.854C>G	c.(853-855)TCT>TGT	p.S285C		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	285						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)													0.165354	47.496616	60.989139	21	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55027749	55027749	3803	17	G	C	C	C	429	33	COIL	3	3
LPO	4025	broad.mit.edu	37	17	56342334	56342334	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56342334T>A	uc002ivt.2	+	c.1518T>A	c.(1516-1518)GAT>GAA	p.D506E	LPO_uc010wns.1_Missense_Mutation_p.D447E|LPO_uc010dcp.2_Missense_Mutation_p.D423E|LPO_uc010dcq.2_Missense_Mutation_p.D177E|LPO_uc010dcr.2_Missense_Mutation_p.D69E	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	506					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2														0.234043	30.004221	33.043701	11	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56342334	56342334	9295	17	T	A	A	A	660	51	LPO	3	3
MARCH10	162333	broad.mit.edu	37	17	60814219	60814219	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60814219T>C	uc010dds.2	-	c.1124A>G	c.(1123-1125)GAA>GGA	p.E375G	MARCH10_uc010ddr.2_Missense_Mutation_p.E337G|MARCH10_uc002jag.3_Missense_Mutation_p.E337G|MARCH10_uc002jah.2_Missense_Mutation_p.E336G	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	ring finger protein 190	337							ligase activity|zinc ion binding				0														0.117886	42.803604	78.098848	29	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60814219	60814219	9682	17	T	C	C	C	806	62	MARCH10	4	4
MARCH10	162333	broad.mit.edu	37	17	60865926	60865926	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60865926G>T	uc010dds.2	-	c.125C>A	c.(124-126)CCA>CAA	p.P42Q	MARCH10_uc010ddr.2_Missense_Mutation_p.P42Q|MARCH10_uc002jag.3_Missense_Mutation_p.P42Q|MARCH10_uc002jah.2_Missense_Mutation_p.P42Q	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	ring finger protein 190	42							ligase activity|zinc ion binding				0														0.078431	-0.433589	8.823499	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60865926	60865926	9682	17	G	T	T	T	611	47	MARCH10	2	2
DDX5	1655	broad.mit.edu	37	17	62500433	62500433	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62500433C>G	uc010deh.2	-	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc002jek.2_Missense_Mutation_p.E72Q|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.E72Q|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	72					cell growth|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			NSCLC(22;406 813 4871 19580 40307)								0.048193	-9.272119	8.750184	4	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62500433	62500433	4538	17	C	G	G	G	416	32	DDX5	3	3
ABCA10	10349	broad.mit.edu	37	17	67197662	67197662	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67197662A>G	uc010dfa.1	-	c.1154T>C	c.(1153-1155)TTC>TCC	p.F385S	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	385					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.081967	2.043812	12.87736	5	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67197662	67197662	30	17	A	G	G	G	117	9	ABCA10	4	4
KCNJ16	3773	broad.mit.edu	37	17	68128552	68128552	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68128552C>T	uc002jiq.2	+	c.420C>T	c.(418-420)ATC>ATT	p.I140I	KCNJ16_uc002jin.2_Silent_p.I108I|KCNJ16_uc002jio.2_Silent_p.I108I|KCNJ16_uc002jip.2_Silent_p.I108I	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	108	Extracellular (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)	2	Breast(10;2.96e-09)													0.070312	-4.515772	19.858208	9	119	KEEP	---	---	---	---	capture		Silent	SNP	68128552	68128552	8355	17	C	T	T	T	369	29	KCNJ16	2	2
KCNJ16	3773	broad.mit.edu	37	17	68128672	68128672	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68128672C>G	uc002jiq.2	+	c.540C>G	c.(538-540)CTC>CTG	p.L180L	KCNJ16_uc002jin.2_Silent_p.L148L|KCNJ16_uc002jio.2_Silent_p.L148L|KCNJ16_uc002jip.2_Silent_p.L148L	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	148	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)	2	Breast(10;2.96e-09)													0.094118	11.568889	39.709529	16	154	KEEP	---	---	---	---	capture		Silent	SNP	68128672	68128672	8355	17	C	G	G	G	366	29	KCNJ16	3	3
KCNJ16	3773	broad.mit.edu	37	17	68128681	68128681	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68128681C>T	uc002jiq.2	+	c.549C>T	c.(547-549)ATC>ATT	p.I183I	KCNJ16_uc002jin.2_Silent_p.I151I|KCNJ16_uc002jio.2_Silent_p.I151I|KCNJ16_uc002jip.2_Silent_p.I151I	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	151	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)	2	Breast(10;2.96e-09)													0.107527	15.661057	44.090634	20	166	KEEP	---	---	---	---	capture		Silent	SNP	68128681	68128681	8355	17	C	T	T	T	382	30	KCNJ16	2	2
KCNJ16	3773	broad.mit.edu	37	17	68128951	68128951	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68128951C>G	uc002jiq.2	+	c.819C>G	c.(817-819)GTC>GTG	p.V273V	KCNJ16_uc002jin.2_Silent_p.V241V|KCNJ16_uc002jio.2_Silent_p.V241V|KCNJ16_uc002jip.2_Silent_p.V241V	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	241	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)	2	Breast(10;2.96e-09)													0.087248	16.651723	67.995537	26	272	KEEP	---	---	---	---	capture		Silent	SNP	68128951	68128951	8355	17	C	G	G	G	366	29	KCNJ16	3	3
KCNJ2	3759	broad.mit.edu	37	17	68171771	68171771	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68171771C>T	uc010dfg.2	+	c.591C>T	c.(589-591)CAC>CAT	p.H197H	KCNJ2_uc002jir.2_Silent_p.H197H	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	197	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)													0.316832	83.555458	86.57348	32	69	KEEP	---	---	---	---	capture		Silent	SNP	68171771	68171771	8356	17	C	T	T	T	220	17	KCNJ2	2	2
KCNJ2	3759	broad.mit.edu	37	17	68172162	68172162	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68172162C>G	uc010dfg.2	+	c.982C>G	c.(982-984)CCT>GCT	p.P328A	KCNJ2_uc002jir.2_Missense_Mutation_p.P328A	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	328	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)													0.365672	143.859282	146.055598	49	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68172162	68172162	8356	17	C	G	G	G	338	26	KCNJ2	3	3
RNMTL1	55178	broad.mit.edu	37	17	685883	685883	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:685883G>C	uc002frw.2	+	c.265G>C	c.(265-267)GAG>CAG	p.E89Q	GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	89					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)										0.307692	10.693222	11.122961	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	685883	685883	13986	17	G	C	C	C	429	33	RNMTL1	3	3
SLC39A11	201266	broad.mit.edu	37	17	70845913	70845913	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:70845913C>G	uc002jjb.2	-	c.482G>C	c.(481-483)AGA>ACA	p.R161T	SLC39A11_uc002jja.2_Missense_Mutation_p.R154T|SLC39A11_uc002jjc.1_Missense_Mutation_p.R154T	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	161					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						NSCLC(95;736 1527 12296 39625 41839)								0.444444	25.596969	25.645464	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70845913	70845913	15111	17	C	G	G	G	416	32	SLC39A11	3	3
NEURL4	84461	broad.mit.edu	37	17	7220677	7220677	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7220677A>G	uc002gga.1	-	c.4331T>C	c.(4330-4332)ATC>ACC	p.I1444T	GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Missense_Mutation_p.I1442T	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1444							protein binding			ovary(1)	1														0.166667	9.085683	11.613007	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7220677	7220677	10747	17	A	G	G	G	156	12	NEURL4	4	4
MRPL38	64978	broad.mit.edu	37	17	73897091	73897091	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73897091G>A	uc010wso.1	-	c.682C>T	c.(682-684)CCA>TCA	p.P228S	FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38 precursor	228						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.666667	13.101719	13.249209	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73897091	73897091	10194	17	G	A	A	A	546	42	MRPL38	2	2
TP53	7157	broad.mit.edu	37	17	7577506	7577506	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577506C>A	uc002gim.2	-	c.775G>T	c.(775-777)GAC>TAC	p.D259Y	TP53_uc002gig.1_Missense_Mutation_p.D259Y|TP53_uc002gih.2_Missense_Mutation_p.D259Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D127Y|TP53_uc010cng.1_Missense_Mutation_p.D127Y|TP53_uc002gii.1_Missense_Mutation_p.D127Y|TP53_uc010cnh.1_Missense_Mutation_p.D259Y|TP53_uc010cni.1_Missense_Mutation_p.D259Y|TP53_uc002gij.2_Missense_Mutation_p.D259Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.D166Y|TP53_uc002gio.2_Missense_Mutation_p.D127Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	259	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		D -> Y (in sporadic cancers; somatic mutation).|D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.D259Y(18)|p.0?(6)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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.D259N(BCP1-Tumor)|p.D259Y(BCPAP-Tumor)|p.D259Y(CORL95-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.827586	75.313498	78.251358	24	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577506	7577506	16923	17	C	A	A	A	416	32	TP53	2	2
ENPP7	339221	broad.mit.edu	37	17	77708904	77708904	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77708904G>T	uc002jxa.2	+	c.462G>T	c.(460-462)GTG>GTT	p.V154V		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	154					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)											0.909091	64.139278	67.796463	20	2	KEEP	---	---	---	---	capture		Silent	SNP	77708904	77708904	5328	17	G	T	T	T	574	45	ENPP7	2	2
GAA	2548	broad.mit.edu	37	17	78078651	78078651	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78078651G>C	uc002jxo.2	+	c.266G>C	c.(265-267)CGC>CCC	p.R89P	GAA_uc002jxp.2_Missense_Mutation_p.R89P|GAA_uc002jxq.2_Missense_Mutation_p.R89P	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	89	P-type.				cardiac muscle contraction|diaphragm contraction|glucose metabolic process|glycogen catabolic process|lysosome organization|maltose metabolic process|sucrose metabolic process|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)									1	20.719549	20.703294	6	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78078651	78078651	6398	17	G	C	C	C	494	38	GAA	3	3
TSPAN10	83882	broad.mit.edu	37	17	79612190	79612191	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79612190_79612191CC>TT	uc010die.2	+	c.209_210CC>TT	c.(208-210)TCC>TTT	p.S70F	TSPAN10_uc002kaw.1_Missense_Mutation_p.S70F|TSPAN10_uc010did.1_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	70						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)											0.6	28.076436	28.207352	9	6	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	79612190	79612191	17185	17	CC	TT	TT	TT	390	30	TSPAN10	2	2
TBCD	6904	broad.mit.edu	37	17	80758865	80758865	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80758865G>T	uc002kfy.1	+	c.943G>T	c.(943-945)GCA>TCA	p.A315S	TBCD_uc002kfx.1_Missense_Mutation_p.A298S|TBCD_uc002kfz.2_Missense_Mutation_p.A315S	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	315					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)											0.8	25.096388	25.929845	8	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80758865	80758865	16159	17	G	T	T	T	442	34	TBCD	2	2
STX8	9482	broad.mit.edu	37	17	9395240	9395240	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9395240T>A	uc002glx.2	-	c.449_splice	c.e6-1	p.E150_splice		NM_004853	NP_004844			syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane					0														0.289474	31.709906	33.219234	11	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	9395240	9395240	15871	17	T	A	A	A	715	55	STX8	5	3
C18orf1	753	broad.mit.edu	37	18	13645418	13645418	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13645418C>T	uc002ksa.2	+	c.683C>T	c.(682-684)CCA>CTA	p.P228L	C18orf1_uc002ksb.2_Missense_Mutation_p.P210L|C18orf1_uc002kse.2_Missense_Mutation_p.P191L|C18orf1_uc002ksf.2_Missense_Mutation_p.P173L|C18orf1_uc002ksg.1_Missense_Mutation_p.P151L|C18orf1_uc002ksh.1_Missense_Mutation_p.P170L|C18orf1_uc002ksi.1_Missense_Mutation_p.P152L	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	228	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)										0.106383	4.945575	12.171552	5	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13645418	13645418	1955	18	C	T	T	T	273	21	C18orf1	2	2
ZNF521	25925	broad.mit.edu	37	18	22804988	22804988	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22804988C>G	uc002kvk.2	-	c.2894G>C	c.(2893-2895)GGA>GCA	p.G965A	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.G965A|ZNF521_uc002kvl.2_Missense_Mutation_p.G745A	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	965	C2H2-type 23.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.560606	131.28446	131.495792	37	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22804988	22804988	18559	18	C	G	G	G	390	30	ZNF521	3	3
DSC3	1825	broad.mit.edu	37	18	28588383	28588383	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28588383C>A	uc002kwj.3	-	c.1372G>T	c.(1372-1374)GTT>TTT	p.V458F	DSC3_uc002kwi.3_Missense_Mutation_p.V458F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	458	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(10;0.125)											0.333333	25.565352	26.229893	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28588383	28588383	4951	18	C	A	A	A	234	18	DSC3	2	2
DSC1	1823	broad.mit.edu	37	18	28711672	28711672	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28711672G>A	uc002kwn.2	-	c.2372C>T	c.(2371-2373)TCC>TTC	p.S791F	DSC1_uc002kwm.2_Missense_Mutation_p.S791F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	791	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(10;0.00778)											0.276923	45.219283	48.132818	18	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28711672	28711672	4949	18	G	A	A	A	533	41	DSC1	2	2
DSG1	1828	broad.mit.edu	37	18	28919734	28919734	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28919734C>A	uc002kwp.2	+	c.1433C>A	c.(1432-1434)ACA>AAA	p.T478K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	478	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.428571	48.821141	48.976555	15	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28919734	28919734	4960	18	C	A	A	A	221	17	DSG1	2	2
DLGAP1	9229	broad.mit.edu	37	18	3879381	3879381	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:3879381G>A	uc002kmf.2	-	c.688C>T	c.(688-690)CGC>TGC	p.R230C	DLGAP1_uc010wyz.1_Missense_Mutation_p.R230C|DLGAP1_uc002kmk.2_Missense_Mutation_p.R230C	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	230					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)												0.1125	9.388335	21.189066	9	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3879381	3879381	4739	18	G	A	A	A	507	39	DLGAP1	1	1
SYT4	6860	broad.mit.edu	37	18	40853859	40853859	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40853859C>A	uc002law.2	-	c.535G>T	c.(535-537)GGC>TGC	p.G179C	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.G161C|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	179	Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.5	28.474594	28.474594	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40853859	40853859	15997	18	C	A	A	A	273	21	SYT4	2	2
SETBP1	26040	broad.mit.edu	37	18	42643106	42643106	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42643106C>A	uc010dni.2	+	c.4234C>A	c.(4234-4236)CGG>AGG	p.R1412R		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1412						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.16	8.685132	11.435699	4	21	KEEP	---	---	---	---	capture		Silent	SNP	42643106	42643106	14617	18	C	A	A	A	347	27	SETBP1	1	1
KIAA1632	57724	broad.mit.edu	37	18	43464725	43464725	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43464725G>C	uc002lbm.2	-	c.5161C>G	c.(5161-5163)CTG>GTG	p.L1721V	KIAA1632_uc010xcq.1_Missense_Mutation_p.L275V|KIAA1632_uc010xcr.1_Non-coding_Transcript|KIAA1632_uc010xcs.1_Non-coding_Transcript|KIAA1632_uc002lbn.2_Missense_Mutation_p.L596V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1721					autophagy						0														0.333333	34.81512	35.626381	11	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43464725	43464725	8558	18	G	C	C	C	425	33	KIAA1632	3	3
KIAA1632	57724	broad.mit.edu	37	18	43535185	43535185	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43535185C>A	uc002lbm.2	-	c.183G>T	c.(181-183)AAG>AAT	p.K61N	KIAA1632_uc002lbo.1_Missense_Mutation_p.K61N	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	61					autophagy						0														0.178571	10.856989	13.580511	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43535185	43535185	8558	18	C	A	A	A	311	24	KIAA1632	2	2
SMAD4	4089	broad.mit.edu	37	18	48604750	48604750	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48604750G>T	uc010xdp.1	+	c.1572G>T	c.(1570-1572)TGG>TGT	p.W524C	SMAD4_uc002lfb.3_Missense_Mutation_p.W369C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	524	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|promoter binding|protein homodimerization activity|R-SMAD binding|transcription activator activity|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)		pancreas(169)|large_intestine(108)|thyroid(19)|lung(10)|small_intestine(9)|biliary_tract(8)|upper_aerodigestive_tract(7)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	364		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)						233				0.756098	98.03887	100.497077	31	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48604750	48604750	15258	18	G	T	T	T	533	41	SMAD4	2	2
EPB41L3	23136	broad.mit.edu	37	18	5395638	5395638	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5395638G>C	uc002kmt.1	-	c.3042C>G	c.(3040-3042)ACC>ACG	p.T1014T	EPB41L3_uc010wzh.1_Silent_p.T845T|EPB41L3_uc002kmu.1_Silent_p.T792T|EPB41L3_uc010dkq.1_Silent_p.T683T|EPB41L3_uc002kms.1_Silent_p.T249T|EPB41L3_uc010wze.1_Silent_p.T319T|EPB41L3_uc010wzf.1_Silent_p.T311T|EPB41L3_uc010wzg.1_Silent_p.T286T|EPB41L3_uc010dkr.2_Silent_p.T406T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1014	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.165217	33.348364	45.588801	19	96	KEEP	---	---	---	---	capture		Silent	SNP	5395638	5395638	5347	18	G	C	C	C	600	47	EPB41L3	3	3
EPB41L3	23136	broad.mit.edu	37	18	5416024	5416024	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5416024G>A	uc002kmt.1	-	c.1860C>T	c.(1858-1860)AGC>AGT	p.S620S	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	620	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.161905	30.32283	41.729967	17	88	KEEP	---	---	---	---	capture		Silent	SNP	5416024	5416024	5347	18	G	A	A	A	438	34	EPB41L3	2	2
EPB41L3	23136	broad.mit.edu	37	18	5416170	5416170	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5416170C>A	uc002kmt.1	-	c.1714G>T	c.(1714-1716)GCT>TCT	p.A572S	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	572	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.133929	20.178557	34.716878	15	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5416170	5416170	5347	18	C	A	A	A	338	26	EPB41L3	2	2
ONECUT2	9480	broad.mit.edu	37	18	55103907	55103907	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55103907C>A	uc002lgo.2	+	c.959C>A	c.(958-960)TCG>TAG	p.S320*		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	320	Poly-Ser.				organ morphogenesis	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)										0.666667	6.254215	6.324713	2	1	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55103907	55103907	11274	18	C	A	A	A	403	31	ONECUT2	5	1
TNFRSF11A	8792	broad.mit.edu	37	18	60036186	60036186	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:60036186G>T	uc002lin.2	+	c.1036G>T	c.(1036-1038)GAA>TAA	p.E346*	TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	346	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity				0		Colorectal(73;0.188)												0.679245	112.913072	114.423984	36	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60036186	60036186	16825	18	G	T	T	T	429	33	TNFRSF11A	5	2
CDH7	1005	broad.mit.edu	37	18	63477089	63477090	+	Silent	DNP	CC	AA	AA			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63477089_63477090CC>AA	uc002ljz.2	+	c.360_361CC>AA	c.(358-363)CTCCGA>CTAAGA	p.120_121LR>LR	CDH7_uc002lka.2_Silent_p.120_121LR>LR|CDH7_uc002lkb.2_Silent_p.120_121LR>LR	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	120_121	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.411765	37.224851	37.458698	14	20	KEEP	---	---	---	---	capture		Silent	DNP	63477089	63477090	3244	18	CC	AA	AA	AA	379	30	CDH7	2	2
LAMA1	284217	broad.mit.edu	37	18	7013956	7013956	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7013956C>A	uc002knm.2	-	c.3221G>T	c.(3220-3222)TGC>TTC	p.C1074F	LAMA1_uc010wzj.1_Missense_Mutation_p.C550F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1074	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.5625	55.754679	55.864118	18	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7013956	7013956	8928	18	C	A	A	A	325	25	LAMA1	2	2
ZNF236	7776	broad.mit.edu	37	18	74622668	74622668	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74622668A>G	uc002lmi.2	+	c.2700A>G	c.(2698-2700)CAA>CAG	p.Q900Q	ZNF236_uc002lmj.2_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	900					cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)										0.325	38.560111	39.647724	13	27	KEEP	---	---	---	---	capture		Silent	SNP	74622668	74622668	18380	18	A	G	G	G	24	2	ZNF236	4	4
ICAM3	3385	broad.mit.edu	37	19	10444650	10444650	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10444650G>C	uc002mob.2	-	c.1527C>G	c.(1525-1527)GTC>GTG	p.V509V	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Silent_p.V432V	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	509	Helical; (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)											0.222222	10.890246	12.16786	4	14	KEEP	---	---	---	---	capture		Silent	SNP	10444650	10444650	7781	19	G	C	C	C	418	33	ICAM3	3	3
ATG4D	84971	broad.mit.edu	37	19	10659647	10659647	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10659647C>T	uc002mov.2	+	c.903C>T	c.(901-903)GTC>GTT	p.V301V	ATG4D_uc010xlh.1_Silent_p.V238V|ATG4D_uc010dxh.2_Non-coding_Transcript|ATG4D_uc010dxi.2_Non-coding_Transcript|ATG4D_uc010dxj.2_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	301					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)											0.285714	20.787276	21.941775	8	20	KEEP	---	---	---	---	capture		Silent	SNP	10659647	10659647	1118	19	C	T	T	T	366	29	ATG4D	2	2
ELAVL3	1995	broad.mit.edu	37	19	11568959	11568959	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11568959C>T	uc002mry.1	-	c.630G>A	c.(628-630)ACG>ACA	p.T210T	ELAVL3_uc002mrx.1_Silent_p.T210T	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	210					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)	2														0.4375	43.347233	43.455769	14	18	KEEP	---	---	---	---	capture		Silent	SNP	11568959	11568959	5242	19	C	T	T	T	288	23	ELAVL3	1	1
ZNF700	90592	broad.mit.edu	37	19	12059662	12059662	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12059662G>T	uc002msu.2	+	c.823G>T	c.(823-825)GAG>TAG	p.E275*	ZNF700_uc010xme.1_Nonsense_Mutation_p.E293*|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.703704	59.833177	60.83424	19	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	12059662	12059662	18699	19	G	T	T	T	533	41	ZNF700	5	2
APC2	10297	broad.mit.edu	37	19	1462091	1462091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1462091C>T	uc002lsr.1	+	c.1768C>T	c.(1768-1770)CAG>TAG	p.Q590*	APC2_uc002lss.1_Nonsense_Mutation_p.Q172*|APC2_uc002lst.1_Nonsense_Mutation_p.Q590*|APC2_uc002lsu.1_Nonsense_Mutation_p.Q589*|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	590	ARM 4.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										1	11.248422	11.130572	3	0	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1462091	1462091	774	19	C	T	T	T	377	29	APC2	5	2
EMR3	84658	broad.mit.edu	37	19	14772861	14772861	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14772861C>T	uc002mzi.3	-	c.269G>A	c.(268-270)GGA>GAA	p.G90E	EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	90	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)	5														0.612903	60.929654	61.275504	19	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14772861	14772861	5299	19	C	T	T	T	390	30	EMR3	2	2
HSH2D	84941	broad.mit.edu	37	19	16268408	16268408	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16268408G>A	uc002ndp.3	+	c.862G>A	c.(862-864)GTC>ATC	p.V288I	HSH2D_uc002ndr.2_Missense_Mutation_p.G231D|HSH2D_uc010ead.2_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	288						cytoplasm|nucleus					0														0.352941	16.964969	17.280173	6	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16268408	16268408	7699	19	G	A	A	A	572	44	HSH2D	2	2
ZNF14	7561	broad.mit.edu	37	19	19822426	19822426	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19822426C>A	uc002nnk.1	-	c.1664G>T	c.(1663-1665)GGA>GTA	p.G555V		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)												0.458333	31.921596	31.957943	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19822426	19822426	18319	19	C	A	A	A	390	30	ZNF14	2	2
ZNF43	7594	broad.mit.edu	37	19	22000712	22000712	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22000712A>G	uc002nqj.2	-	c.207T>C	c.(205-207)CAT>CAC	p.H69H	ZNF43_uc010ecv.2_Silent_p.H63H|ZNF43_uc002nql.2_Silent_p.H63H|ZNF43_uc002nqm.2_Silent_p.H63H|ZNF43_uc002nqk.2_5'UTR	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)										0.076923	-0.140938	9.387229	4	48	KEEP	---	---	---	---	capture		Silent	SNP	22000712	22000712	18496	19	A	G	G	G	102	8	ZNF43	4	4
ZNF676	163223	broad.mit.edu	37	19	22363351	22363351	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22363351C>G	uc002nqs.1	-	c.1168G>C	c.(1168-1170)GAG>CAG	p.E390Q		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.214286	24.552008	27.717456	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363351	22363351	18678	19	C	G	G	G	416	32	ZNF676	3	3
ZNF681	148213	broad.mit.edu	37	19	23927544	23927544	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23927544T>C	uc002nrk.3	-	c.808A>G	c.(808-810)ACA>GCA	p.T270A	ZNF681_uc002nrl.3_Missense_Mutation_p.T201A|ZNF681_uc002nrj.3_Missense_Mutation_p.T201A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	270	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)												0.142857	16.56424	23.444467	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23927544	23927544	18683	19	T	C	C	C	741	57	ZNF681	4	4
SGTA	6449	broad.mit.edu	37	19	2757423	2757423	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2757423T>C	uc002lwi.1	-	c.860A>G	c.(859-861)CAG>CGG	p.Q287R		NM_003021	NP_003012	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide	287	Gln-rich.				interspecies interaction between organisms	cytoplasm	protein binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.272727	7.920116	8.432289	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2757423	2757423	14716	19	T	C	C	C	715	55	SGTA	4	4
ZNF536	9745	broad.mit.edu	37	19	30935770	30935770	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935770T>A	uc002nsu.1	+	c.1301T>A	c.(1300-1302)CTG>CAG	p.L434Q	ZNF536_uc010edd.1_Missense_Mutation_p.L434Q	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.5	22.223321	22.223321	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30935770	30935770	18568	19	T	A	A	A	715	55	ZNF536	3	3
CHST8	64377	broad.mit.edu	37	19	34263888	34263888	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:34263888C>A	uc002nus.3	+	c.1195C>A	c.(1195-1197)CAA>AAA	p.Q399K	CHST8_uc002nut.3_Missense_Mutation_p.Q399K|CHST8_uc002nuu.2_Missense_Mutation_p.Q399K	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	399	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.162)													0.777778	23.629526	24.268107	7	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34263888	34263888	3544	19	C	A	A	A	325	25	CHST8	2	2
SCN1B	6324	broad.mit.edu	37	19	35523499	35523499	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35523499C>A	uc002nxo.1	+	c.108C>A	c.(106-108)TTC>TTA	p.F36L	SCN1B_uc002nxp.2_Missense_Mutation_p.F36L|SCN1B_uc010xsg.1_Missense_Mutation_p.F36L	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	36	Extracellular (Potential).|Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)											0.206897	53.442906	62.673671	24	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35523499	35523499	14397	19	C	A	A	A	376	29	SCN1B	2	2
ZBTB32	27033	broad.mit.edu	37	19	36205630	36205630	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36205630C>A	uc002oay.2	+	c.102C>A	c.(100-102)ACC>ACA	p.T34T	ZBTB32_uc002oaz.2_Non-coding_Transcript	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	34	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	DNA binding|protein binding|specific RNA polymerase II transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.219178	39.002104	44.276408	16	57	KEEP	---	---	---	---	capture		Silent	SNP	36205630	36205630	18121	19	C	A	A	A	288	23	ZBTB32	1	1
MLL4	9757	broad.mit.edu	37	19	36211923	36211923	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36211923G>A	uc010eei.2	+	c.1674G>A	c.(1672-1674)GAG>GAA	p.E558E		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	558	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.333333	14.269704	14.638861	5	10	KEEP	---	---	---	---	capture		Silent	SNP	36211923	36211923	10013	19	G	A	A	A	451	35	MLL4	2	2
ZNF566	84924	broad.mit.edu	37	19	36964265	36964265	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36964265C>A	uc010xtf.1	-	c.105G>T	c.(103-105)ATG>ATT	p.M35I	ZNF566_uc002oea.3_Missense_Mutation_p.M35I|ZNF566_uc010xte.1_Missense_Mutation_p.M35I|ZNF566_uc002oeb.3_Missense_Mutation_p.M35I|ZNF566_uc002oec.3_Intron|ZNF566_uc010xtg.1_Intron	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 2	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.069307	-3.161271	16.197614	7	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36964265	36964265	18592	19	C	A	A	A	221	17	ZNF566	2	2
RYR1	6261	broad.mit.edu	37	19	38995653	38995653	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38995653C>A	uc002oit.2	+	c.8242C>A	c.(8242-8244)CCG>ACG	p.P2748T	RYR1_uc002oiu.2_Missense_Mutation_p.P2748T|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2748	5.|Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.518519	44.350501	44.358541	14	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38995653	38995653	14248	19	C	A	A	A	286	22	RYR1	2	2
RYR1	6261	broad.mit.edu	37	19	39013886	39013886	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39013886G>T	uc002oit.2	+	c.10377G>T	c.(10375-10377)GTG>GTT	p.V3459V	RYR1_uc002oiu.2_Silent_p.V3459V|RYR1_uc002oiv.1_Silent_p.V379V|RYR1_uc010xuf.1_Silent_p.V379V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3459					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.713092	851.744906	866.409105	256	103	KEEP	---	---	---	---	capture		Silent	SNP	39013886	39013886	14248	19	G	T	T	T	600	47	RYR1	2	2
MAP4K1	11184	broad.mit.edu	37	19	39106849	39106849	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39106849T>A	uc002oix.1	-	c.299A>T	c.(298-300)CAG>CTG	p.Q100L	MAP4K1_uc002oiy.1_Missense_Mutation_p.Q100L|MAP4K1_uc010xug.1_5'Flank|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	100	Protein kinase.				activation of JUN kinase activity|activation of MAPKKK activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)	7	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)							518				0.673469	108.86387	110.164187	33	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39106849	39106849	9642	19	T	A	A	A	715	55	MAP4K1	3	3
PAK4	10298	broad.mit.edu	37	19	39665645	39665645	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39665645C>G	uc002okj.1	+	c.1173C>G	c.(1171-1173)CTC>CTG	p.L391L	PAK4_uc002okl.1_Silent_p.L391L|PAK4_uc002okn.1_Silent_p.L391L|PAK4_uc002okm.1_Silent_p.L238L|PAK4_uc002oko.1_Silent_p.L238L|PAK4_uc002okp.1_Silent_p.L301L	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	391	Protein kinase.				cellular component movement|protein phosphorylation|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)							223				0.218182	30.869786	34.895917	12	43	KEEP	---	---	---	---	capture		Silent	SNP	39665645	39665645	11819	19	C	G	G	G	405	32	PAK4	3	3
EEF2	1938	broad.mit.edu	37	19	3979399	3979399	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3979399C>A	uc002lze.2	-	c.1641G>T	c.(1639-1641)GCG>GCT	p.A547A		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	547						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		Colon(165;1804 1908 4071 6587 18799)								0.733333	36.430996	37.168523	11	4	KEEP	---	---	---	---	capture		Silent	SNP	3979399	3979399	5116	19	C	A	A	A	288	23	EEF2	1	1
ARHGEF1	9138	broad.mit.edu	37	19	42392153	42392153	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42392153G>A	uc002osa.2	+	c.45G>A	c.(43-45)GAG>GAA	p.E15E	ARHGEF1_uc002orw.1_5'UTR|ARHGEF1_uc002orx.2_5'UTR|ARHGEF1_uc002ory.2_5'UTR|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osb.2_Silent_p.E15E	NM_199002	NP_945353	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	Error:Variant_position_missing_in_Q92888_after_alignment					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)										0.466667	40.529744	40.560053	14	16	KEEP	---	---	---	---	capture		Silent	SNP	42392153	42392153	907	19	G	A	A	A	425	33	ARHGEF1	2	2
ATP1A3	478	broad.mit.edu	37	19	42473061	42473061	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42473061C>G	uc010xwh.1	-	c.2734G>C	c.(2734-2736)GAG>CAG	p.E912Q	ATP1A3_uc010xwf.1_Missense_Mutation_p.E910Q|ATP1A3_uc010xwg.1_Missense_Mutation_p.E869Q|ATP1A3_uc002osg.2_Missense_Mutation_p.E899Q|ATP1A3_uc002osh.2_Missense_Mutation_p.E899Q	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	899	Extracellular (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														0.596154	99.259806	99.649853	31	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42473061	42473061	1149	19	C	G	G	G	403	31	ATP1A3	3	3
ATP1A3	478	broad.mit.edu	37	19	42479787	42479787	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42479787C>A	uc010xwh.1	-	c.2296G>T	c.(2296-2298)GAG>TAG	p.E766*	ATP1A3_uc010xwf.1_Nonsense_Mutation_p.E764*|ATP1A3_uc010xwg.1_Nonsense_Mutation_p.E723*|ATP1A3_uc002osg.2_Nonsense_Mutation_p.E753*|ATP1A3_uc002osh.2_Nonsense_Mutation_p.E753*	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	753	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														0.770492	294.770792	302.9391	94	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42479787	42479787	1149	19	C	A	A	A	390	30	ATP1A3	5	2
ATP1A3	478	broad.mit.edu	37	19	42489244	42489244	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42489244G>T	uc010xwh.1	-	c.858C>A	c.(856-858)CCC>CCA	p.P286P	ATP1A3_uc010xwf.1_Silent_p.P284P|ATP1A3_uc010xwg.1_Silent_p.P243P|ATP1A3_uc002osg.2_Silent_p.P273P|ATP1A3_uc002osh.2_Silent_p.P273P	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	273	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														0.117647	4.78278	9.663021	4	30	KEEP	---	---	---	---	capture		Silent	SNP	42489244	42489244	1149	19	G	T	T	T	600	47	ATP1A3	2	2
GYS1	2997	broad.mit.edu	37	19	49477529	49477529	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49477529A>G	uc002plp.2	-	c.1490T>C	c.(1489-1491)GTC>GCC	p.V497A	GYS1_uc010xzy.1_Missense_Mutation_p.V130A|GYS1_uc010emm.2_Missense_Mutation_p.V433A|GYS1_uc010xzz.1_Missense_Mutation_p.V417A	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	497					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)										0.3	8.722154	9.078927	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49477529	49477529	7192	19	A	G	G	G	130	10	GYS1	4	4
CEACAM18	729767	broad.mit.edu	37	19	51983727	51983727	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51983727G>C	uc002pwv.1	+	c.376G>C	c.(376-378)GCA>CCA	p.A126P		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	126						integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.12	4.406772	7.948362	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51983727	51983727	3322	19	G	C	C	C	598	46	CEACAM18	3	3
ZNF578	147660	broad.mit.edu	37	19	53014749	53014749	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53014749A>T	uc002pzp.3	+	c.1115A>T	c.(1114-1116)AAG>ATG	p.K372M		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	147	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)										0.764045	226.640219	232.312316	68	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53014749	53014749	18605	19	A	T	T	T	39	3	ZNF578	3	3
NLRP12	91662	broad.mit.edu	37	19	54313961	54313961	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54313961G>T	uc002qcj.3	-	c.952C>A	c.(952-954)CGG>AGG	p.R318R	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qch.3_Silent_p.R318R|NLRP12_uc002qci.3_Silent_p.R318R|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Silent_p.R318R	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	318	NACHT.				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)										0.83871	88.263915	91.647131	26	5	KEEP	---	---	---	---	capture		Silent	SNP	54313961	54313961	10877	19	G	T	T	T	519	40	NLRP12	1	1
OSCAR	126014	broad.mit.edu	37	19	54600290	54600290	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54600290C>A	uc002qdd.2	-	c.307G>T	c.(307-309)GTG>TTG	p.V103L	OSCAR_uc002qcy.2_Missense_Mutation_p.V82L|OSCAR_uc002qcz.2_Missense_Mutation_p.V78L|OSCAR_uc002qda.2_Missense_Mutation_p.V82L|OSCAR_uc002qdb.2_Missense_Mutation_p.V67L|OSCAR_uc010erc.2_Missense_Mutation_p.C45F|OSCAR_uc002qdc.2_Missense_Mutation_p.V92L	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	osteoclast-associated receptor isoform 1	78	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)													0.686567	153.343366	155.411059	46	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54600290	54600290	11696	19	C	A	A	A	221	17	OSCAR	2	2
LILRB1	10859	broad.mit.edu	37	19	55142738	55142738	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55142738C>A	uc002qgm.2	+	c.51C>A	c.(49-51)CCC>CCA	p.P17P	LILRB1_uc010erp.1_Silent_p.P34P|LILRB1_uc002qgj.2_Silent_p.P17P|LILRB1_uc002qgl.2_Silent_p.P17P|LILRB1_uc002qgk.2_Silent_p.P17P|LILRB1_uc010erq.2_Silent_p.P17P|LILRB1_uc010err.2_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	17					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0188)										0.813953	116.855901	120.857096	35	8	KEEP	---	---	---	---	capture		Silent	SNP	55142738	55142738	9116	19	C	A	A	A	262	21	LILRB1	2	2
GP6	51206	broad.mit.edu	37	19	55539168	55539168	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55539168C>A	uc002qil.2	-	c.388G>T	c.(388-390)GTA>TTA	p.V130L	GP6_uc002qik.2_Missense_Mutation_p.V130L|GP6_uc010esq.2_Missense_Mutation_p.V130L|RDH13_uc010esr.1_Non-coding_Transcript	NM_001083899	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 1	130	Ig-like C2-type 2.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)										0.511628	67.750411	67.755505	22	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55539168	55539168	6858	19	C	A	A	A	247	19	GP6	1	1
NLRP9	338321	broad.mit.edu	37	19	56243816	56243816	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56243816G>T	uc002qly.2	-	c.1381C>A	c.(1381-1383)CGA>AGA	p.R461R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	461	NACHT.					cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)										0.7875	432.10999	444.330438	126	34	KEEP	---	---	---	---	capture		Silent	SNP	56243816	56243816	10887	19	G	T	T	T	519	40	NLRP9	1	1
NLRP9	338321	broad.mit.edu	37	19	56249728	56249728	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56249728A>T	uc002qly.2	-	c.13T>A	c.(13-15)TTT>ATT	p.F5I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	5	DAPIN.					cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)										0.213115	29.247539	33.881992	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56249728	56249728	10887	19	A	T	T	T	13	1	NLRP9	3	3
NLRP11	204801	broad.mit.edu	37	19	56321105	56321105	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56321105C>G	uc010ygf.1	-	c.871G>C	c.(871-873)GAG>CAG	p.E291Q	NLRP11_uc002qlz.2_Missense_Mutation_p.E192Q|NLRP11_uc002qmb.2_Missense_Mutation_p.E192Q|NLRP11_uc002qmc.2_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	291	NACHT.						ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)										0.5	76.624817	76.624817	23	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56321105	56321105	10876	19	C	G	G	G	416	32	NLRP11	3	3
NLRP4	147945	broad.mit.edu	37	19	56390279	56390279	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56390279T>C	uc002qmd.3	+	c.2816T>C	c.(2815-2817)GTT>GCT	p.V939A	NLRP4_uc002qmf.2_Missense_Mutation_p.V864A|NLRP4_uc010etf.2_Missense_Mutation_p.V714A	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	939	LRR 7.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.357143	32.345734	32.847527	10	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56390279	56390279	10882	19	T	C	C	C	780	60	NLRP4	4	4
NLRP5	126206	broad.mit.edu	37	19	56539859	56539859	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56539859C>A	uc002qmj.2	+	c.2260C>A	c.(2260-2262)CCT>ACT	p.P754T	NLRP5_uc002qmi.2_Missense_Mutation_p.P735T	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	754						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.318966	93.622417	97.008378	37	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56539859	56539859	10883	19	C	A	A	A	390	30	NLRP5	2	2
ZNF470	388566	broad.mit.edu	37	19	57089612	57089612	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57089612G>T	uc002qnl.3	+	c.1815G>T	c.(1813-1815)AGG>AGT	p.R605S	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	605	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)										0.864865	105.22068	109.996255	32	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57089612	57089612	18523	19	G	T	T	T	555	43	ZNF470	2	2
TMEM146	257062	broad.mit.edu	37	19	5770981	5770981	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5770981G>C	uc002mda.2	+	c.1661G>C	c.(1660-1662)GGG>GCG	p.G554A	TMEM146_uc010duj.1_Missense_Mutation_p.G212A	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	554	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.612245	90.154868	90.695277	30	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5770981	5770981	16592	19	G	C	C	C	559	43	TMEM146	3	3
ZSCAN4	201516	broad.mit.edu	37	19	58189944	58189944	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58189944T>A	uc002qpu.2	+	c.973T>A	c.(973-975)TGT>AGT	p.C325S		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	325	C2H2-type 1.				regulation of transcription, DNA-dependent|telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.531915	81.976588	82.018094	25	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58189944	58189944	18841	19	T	A	A	A	715	55	ZSCAN4	3	3
ZNF418	147686	broad.mit.edu	37	19	58441835	58441835	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58441835C>A	uc002qqs.1	-	c.94G>T	c.(94-96)GAC>TAC	p.D32Y	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Intron	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)										0.428571	78.984144	79.26985	27	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58441835	58441835	18488	19	C	A	A	A	377	29	ZNF418	2	2
MZF1	7593	broad.mit.edu	37	19	59080680	59080680	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:59080680G>A	uc002qto.2	-	c.736C>T	c.(736-738)CTG>TTG	p.L246L	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Silent_p.L246L|MZF1_uc010euu.1_Silent_p.L287L	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	246					regulation of transcription, DNA-dependent|viral reproduction	nucleus	promoter binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)										0.527273	92.77777	92.813569	29	26	KEEP	---	---	---	---	capture		Silent	SNP	59080680	59080680	10503	19	G	A	A	A	451	35	MZF1	2	2
C3	718	broad.mit.edu	37	19	6697380	6697380	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6697380C>A	uc002mfm.2	-	c.2771G>T	c.(2770-2772)GGT>GTT	p.G924V		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	924					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)										0.517241	47.301132	47.30776	15	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6697380	6697380	2296	19	C	A	A	A	234	18	C3	2	2
MUC16	94025	broad.mit.edu	37	19	8996360	8996360	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8996360C>T	uc002mkp.2	-	c.41212G>A	c.(41212-41214)GGC>AGC	p.G13738S	MUC16_uc010dwi.2_Non-coding_Transcript|MUC16_uc010dwj.2_Missense_Mutation_p.G555S|MUC16_uc010xki.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13740	Extracellular (Potential).|SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.245192	124.953675	137.23749	51	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8996360	8996360	10367	19	C	T	T	T	286	22	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9002182	9002182	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9002182G>A	uc002mkp.2	-	c.40322C>T	c.(40321-40323)ACC>ATC	p.T13441I	MUC16_uc010dwi.2_Non-coding_Transcript|MUC16_uc010dwj.2_Missense_Mutation_p.T258I|MUC16_uc010xki.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13443	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.244186	50.676784	55.77562	21	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9002182	9002182	10367	19	G	A	A	A	572	44	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9024973	9024973	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9024973C>T	uc002mkp.2	-	c.36889G>A	c.(36889-36891)GGA>AGA	p.G12297R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12299	SEA 2.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.291667	32.818839	34.693159	14	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9024973	9024973	10367	19	C	T	T	T	273	21	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9045757	9045757	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9045757A>G	uc002mkp.2	-	c.35874T>C	c.(35872-35874)CAT>CAC	p.H11958H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11960	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.292035	85.926952	90.305986	33	80	KEEP	---	---	---	---	capture		Silent	SNP	9045757	9045757	10367	19	A	G	G	G	102	8	MUC16	4	4
OR1M1	125963	broad.mit.edu	37	19	9204564	9204564	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9204564T>A	uc010xkj.1	+	c.644T>A	c.(643-645)CTG>CAG	p.L215Q		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.596154	100.230732	100.651229	31	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9204564	9204564	11374	19	T	A	A	A	715	55	OR1M1	3	3
COL11A1	1301	broad.mit.edu	37	1	103343664	103343664	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103343664C>A	uc001dum.2	-	c.5368G>T	c.(5368-5370)GTA>TTA	p.V1790L	COL11A1_uc001duk.2_Missense_Mutation_p.V974L|COL11A1_uc001dul.2_Missense_Mutation_p.V1778L|COL11A1_uc001dun.2_Missense_Mutation_p.V1739L|COL11A1_uc009weh.2_Missense_Mutation_p.V1662L	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1778	Fibrillar collagen NC1.				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)										0.666667	65.609269	66.347332	20	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103343664	103343664	3805	1	C	A	A	A	260	20	COL11A1	2	2
COL11A1	1301	broad.mit.edu	37	1	103345291	103345291	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103345291T>C	uc001dum.2	-	c.5258A>G	c.(5257-5259)GAG>GGG	p.E1753G	COL11A1_uc001duk.2_Missense_Mutation_p.E937G|COL11A1_uc001dul.2_Missense_Mutation_p.E1741G|COL11A1_uc001dun.2_Missense_Mutation_p.E1702G|COL11A1_uc009weh.2_Missense_Mutation_p.E1625G	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1741	Fibrillar collagen NC1.				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)										0.5	73.349823	73.349823	22	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103345291	103345291	3805	1	T	C	C	C	702	54	COL11A1	4	4
SLC25A24	29957	broad.mit.edu	37	1	108697721	108697721	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108697721C>G	uc001dvn.3	-	c.706G>C	c.(706-708)GGT>CGT	p.G236R	SLC25A24_uc001dvm.2_Missense_Mutation_p.G217R	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	236	Solcar 1.|Mitochondrial matrix (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)										0.30303	30.837349	31.980121	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108697721	108697721	14984	1	C	G	G	G	273	21	SLC25A24	3	3
MTOR	2475	broad.mit.edu	37	1	11181391	11181391	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11181391T>C	uc001asd.2	-	c.6845A>G	c.(6844-6846)CAG>CGG	p.Q2282R	MTOR_uc001asc.2_Missense_Mutation_p.Q487R	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2282	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.275862	20.493142	21.80158	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11181391	11181391	10347	1	T	C	C	C	715	55	MTOR	4	4
ATP5F1	515	broad.mit.edu	37	1	111992462	111992462	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111992462C>T	uc009wgf.1	+	c.485C>T	c.(484-486)CCC>CTC	p.P162L	WDR77_uc001ebb.2_5'Flank|WDR77_uc010owd.1_5'Flank|WDR77_uc010owe.1_5'Flank|ATP5F1_uc001ebc.2_Missense_Mutation_p.P15L|ATP5F1_uc001ebd.3_Non-coding_Transcript	NM_001688	NP_001679	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	15					ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding				0		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)										0.453608	137.687963	137.869857	44	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111992462	111992462	1171	1	C	T	T	T	286	22	ATP5F1	2	2
MTOR	2475	broad.mit.edu	37	1	11270872	11270872	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11270872T>A	uc001asd.2	-	c.3653A>T	c.(3652-3654)AAG>ATG	p.K1218M		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1218					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.292683	33.883276	35.461244	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11270872	11270872	10347	1	T	A	A	A	728	56	MTOR	3	3
MTOR	2475	broad.mit.edu	37	1	11313974	11313974	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11313974G>T	uc001asd.2	-	c.762C>A	c.(760-762)GGC>GGA	p.G254G		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	254					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.530612	83.052501	83.092427	26	23	KEEP	---	---	---	---	capture		Silent	SNP	11313974	11313974	10347	1	G	T	T	T	587	46	MTOR	2	2
TRIM33	51592	broad.mit.edu	37	1	114940381	114940381	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114940381C>G	uc001eew.2	-	c.3273G>C	c.(3271-3273)GAG>GAC	p.E1091D	TRIM33_uc010owr.1_Missense_Mutation_p.E705D|TRIM33_uc010ows.1_Missense_Mutation_p.E723D|TRIM33_uc001eex.2_Missense_Mutation_p.E1074D	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1091					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			central_nervous_system(3)|lung(2)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	9	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)						377				0.086957	2.162517	10.108082	4	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114940381	114940381	17051	1	C	G	G	G	259	20	TRIM33	3	3
IGSF3	3321	broad.mit.edu	37	1	117122285	117122285	+	Missense_Mutation	SNP	G	C	C	rs114915440	by1000genomes	TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117122285G>C	uc001egq.1	-	c.3123C>G	c.(3121-3123)GAC>GAG	p.D1041E	IGSF3_uc001egr.1_Missense_Mutation_p.D1021E	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	1021	Ig-like C2-type 8.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)										0.1875	6.819456	8.279475	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117122285	117122285	7902	1	G	C	C	C	516	40	IGSF3	3	3
AADACL3	126767	broad.mit.edu	37	1	12785336	12785336	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12785336C>A	uc009vnn.1	+	c.426C>A	c.(424-426)GCC>GCA	p.A142A	AADACL3_uc001aug.1_Silent_p.A72A	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	142							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)										0.586957	173.853671	174.460474	54	38	KEEP	---	---	---	---	capture		Silent	SNP	12785336	12785336	13	1	C	A	A	A	288	23	AADACL3	1	1
PDE4DIP	9659	broad.mit.edu	37	1	144882509	144882509	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:144882509C>G	uc001elw.3	-	c.3510G>C	c.(3508-3510)GTG>GTC	p.V1170V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.V177V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1170					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)						595				0.144737	22.673588	31.902974	11	65	KEEP	---	---	---	---	capture		Silent	SNP	144882509	144882509	12064	1	C	G	G	G	366	29	PDE4DIP	3	3
ITGA10	8515	broad.mit.edu	37	1	145534113	145534113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145534113C>T	uc001eoa.2	+	c.1618C>T	c.(1618-1620)CAG>TAG	p.Q540*	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Nonsense_Mutation_p.Q409*|ITGA10_uc009wiw.2_Nonsense_Mutation_p.Q397*|ITGA10_uc010oyw.1_Nonsense_Mutation_p.Q485*	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	540	Extracellular (Potential).|FG-GAP 6.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)									450				0.20122	137.027598	164.293249	66	262	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	145534113	145534113	8177	1	C	T	T	T	377	29	ITGA10	5	2
ITGA10	8515	broad.mit.edu	37	1	145534244	145534244	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145534244G>T	uc001eoa.2	+	c.1749G>T	c.(1747-1749)CTG>CTT	p.L583L	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L452L|ITGA10_uc009wiw.2_Silent_p.L440L|ITGA10_uc010oyw.1_Silent_p.L528L	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	583	Extracellular (Potential).|FG-GAP 6.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)									450				0.166023	85.10561	112.474348	43	216	KEEP	---	---	---	---	capture		Silent	SNP	145534244	145534244	8177	1	G	T	T	T	613	48	ITGA10	2	2
PDZK1	5174	broad.mit.edu	37	1	145752463	145752463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145752463C>T	uc001eon.1	+	c.496C>T	c.(496-498)CAA>TAA	p.Q166*	NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Nonsense_Mutation_p.Q166*|PDZK1_uc010oza.1_Intron	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	166	PDZ 2.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)											0.139785	21.608912	33.265583	13	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	145752463	145752463	12128	1	C	T	T	T	377	29	PDZK1	5	2
NBPF14	25832	broad.mit.edu	37	1	148015798	148015798	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:148015798C>A	uc001eqq.2	-	c.834_splice	c.e8-1	p.R278_splice	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqs.1_Splice_Site_SNP_p.R157_splice	NM_015383	NP_056198			hypothetical protein LOC25832							cytoplasm				ovary(1)	1	all_hematologic(923;0.032)													0.644737	159.492935	160.894728	49	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	148015798	148015798	10591	1	C	A	A	A	312	24	NBPF14	5	2
SV2A	9900	broad.mit.edu	37	1	149882165	149882165	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149882165C>A	uc001etg.2	-	c.1046G>T	c.(1045-1047)GGG>GTG	p.G349V	SV2A_uc001eth.2_Missense_Mutation_p.G349V	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	349	Helical; (Potential).				neurotransmitter transport|transmembrane transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)									0.186047	17.173693	21.146529	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149882165	149882165	15937	1	C	A	A	A	286	22	SV2A	2	2
CA14	23632	broad.mit.edu	37	1	150235522	150235522	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150235522C>A	uc001etx.2	+	c.644C>A	c.(643-645)TCG>TAG	p.S215*		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	215	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.229167	53.414231	59.868913	22	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150235522	150235522	2631	1	C	A	A	A	403	31	CA14	5	1
SETDB1	9869	broad.mit.edu	37	1	150923357	150923357	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150923357A>T	uc001evu.2	+	c.2004A>T	c.(2002-2004)CGA>CGT	p.R668R	SETDB1_uc009wmf.2_Silent_p.R669R|SETDB1_uc001evv.2_Silent_p.R668R|SETDB1_uc009wmg.1_Silent_p.R668R	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)							452				0.095238	4.570271	21.838384	10	95	KEEP	---	---	---	---	capture		Silent	SNP	150923357	150923357	14627	1	A	T	T	T	106	9	SETDB1	3	3
HRNR	388697	broad.mit.edu	37	1	152191421	152191421	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152191421T>A	uc001ezt.1	-	c.2684A>T	c.(2683-2685)CAG>CTG	p.Q895L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	895	10.				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)											0.231884	38.571229	43.109954	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152191421	152191421	7653	1	T	A	A	A	715	55	HRNR	3	3
FLG	2312	broad.mit.edu	37	1	152283550	152283550	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152283550C>A	uc001ezu.1	-	c.3812G>T	c.(3811-3813)AGC>ATC	p.S1271I		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1271	Ser-rich.|Filaggrin 7.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.468085	261.170429	261.337972	88	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152283550	152283550	6160	1	C	A	A	A	364	28	FLG	2	2
FLG2	388698	broad.mit.edu	37	1	152325990	152325990	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152325990A>T	uc001ezw.3	-	c.4272T>A	c.(4270-4272)CAT>CAA	p.H1424Q		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1424							calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.687845	833.596702	844.975106	249	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152325990	152325990	6161	1	A	T	T	T	206	16	FLG2	3	3
LCE4A	199834	broad.mit.edu	37	1	152681593	152681593	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152681593C>A	uc001fak.2	+	c.42C>A	c.(40-42)CCC>CCA	p.P14P		NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	14	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)											0.137755	38.794153	63.686183	27	169	KEEP	---	---	---	---	capture		Silent	SNP	152681593	152681593	8997	1	C	A	A	A	262	21	LCE4A	2	2
IVL	3713	broad.mit.edu	37	1	152883773	152883773	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152883773A>T	uc001fau.2	+	c.1500A>T	c.(1498-1500)CCA>CCT	p.P500P		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	500	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|35.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.259259	17.111991	18.529914	7	20	KEEP	---	---	---	---	capture		Silent	SNP	152883773	152883773	8233	1	A	T	T	T	54	5	IVL	3	3
ADAR	103	broad.mit.edu	37	1	154574329	154574329	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154574329G>A	uc001ffh.2	-	c.789C>T	c.(787-789)GAC>GAT	p.D263D	ADAR_uc001ffj.2_Silent_p.D263D|ADAR_uc001ffi.2_Silent_p.D263D|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	263					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)	5	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)										0.17377	93.374482	124.04326	53	252	KEEP	---	---	---	---	capture		Silent	SNP	154574329	154574329	282	1	G	A	A	A	620	48	ADAR	2	2
FLAD1	80308	broad.mit.edu	37	1	154962044	154962044	+	Silent	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154962044T>C	uc001fgf.1	+	c.1126T>C	c.(1126-1128)TTG>CTG	p.L376L	FLAD1_uc001fgd.1_Silent_p.L376L|FLAD1_uc001fge.1_Silent_p.L279L|FLAD1_uc001fgg.1_Silent_p.L279L|FLAD1_uc001fgh.1_Intron	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	376					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)											0.179104	26.976776	33.455328	12	55	KEEP	---	---	---	---	capture		Silent	SNP	154962044	154962044	6158	1	T	C	C	C	829	64	FLAD1	4	4
EFNA3	1944	broad.mit.edu	37	1	155058673	155058673	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155058673A>G	uc001fhf.2	+	c.578A>G	c.(577-579)AAC>AGC	p.N193S	EFNA3_uc010pew.1_Missense_Mutation_p.N188S|EFNA3_uc010pex.1_Intron|EFNA3_uc001fhg.2_Missense_Mutation_p.N170S	NM_004952	NP_004943	P52797	EFNA3_HUMAN	ephrin A3 precursor	193					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity				0	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)									OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.714286	55.136111	56.004183	15	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155058673	155058673	5140	1	A	G	G	G	26	2	EFNA3	4	4
ASH1L	55870	broad.mit.edu	37	1	155451539	155451539	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155451539C>G	uc009wqq.2	-	c.1122G>C	c.(1120-1122)AAG>AAC	p.K374N	ASH1L_uc001fkt.2_Missense_Mutation_p.K374N|ASH1L_uc009wqr.1_Missense_Mutation_p.K374N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	374					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)											0.142336	73.150681	106.948232	39	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155451539	155451539	1060	1	C	G	G	G	415	32	ASH1L	3	3
YY1AP1	55249	broad.mit.edu	37	1	155629968	155629968	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155629968T>C	uc010pgi.1	-	c.2147A>G	c.(2146-2148)AAT>AGT	p.N716S	YY1AP1_uc001flg.2_Missense_Mutation_p.N363S|YY1AP1_uc010pgg.1_Missense_Mutation_p.N463S|YY1AP1_uc010pgh.1_Missense_Mutation_p.N567S|YY1AP1_uc001flh.2_Missense_Mutation_p.N696S|YY1AP1_uc009wqt.2_Missense_Mutation_p.N547S|YY1AP1_uc001flk.2_Missense_Mutation_p.N567S|YY1AP1_uc001fll.2_Missense_Mutation_p.N578S|YY1AP1_uc009wqv.2_Missense_Mutation_p.N295S|YY1AP1_uc001flm.2_Missense_Mutation_p.N567S|YY1AP1_uc001fli.2_Missense_Mutation_p.N578S|YY1AP1_uc009wqu.2_Missense_Mutation_p.N411S|YY1AP1_uc001flj.2_Missense_Mutation_p.N558S|YY1AP1_uc009wqw.2_Missense_Mutation_p.N547S|YY1AP1_uc001flo.2_Missense_Mutation_p.N512S|YY1AP1_uc001flp.2_Missense_Mutation_p.N578S|YY1AP1_uc001fln.2_Missense_Mutation_p.N624S	NM_139119	NP_620830	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 3	624					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)													0.164384	21.764391	29.566057	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155629968	155629968	18091	1	T	C	C	C	676	52	YY1AP1	4	4
NES	10763	broad.mit.edu	37	1	156641642	156641642	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156641642G>A	uc001fpq.2	-	c.2338C>T	c.(2338-2340)CCA>TCA	p.P780S		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	780	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.6	80.641794	81.009448	24	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156641642	156641642	10736	1	G	A	A	A	559	43	NES	2	2
PEAR1	375033	broad.mit.edu	37	1	156873746	156873746	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156873746C>T	uc001fqj.1	+	c.28C>T	c.(28-30)CTC>TTC	p.L10F	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	10						integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.191011	74.140723	90.027929	34	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156873746	156873746	12133	1	C	T	T	T	416	32	PEAR1	2	2
FCRL5	83416	broad.mit.edu	37	1	157497520	157497520	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157497520C>A	uc001fqu.2	-	c.1847G>T	c.(1846-1848)GGA>GTA	p.G616V	FCRL5_uc009wsm.2_Missense_Mutation_p.G616V|FCRL5_uc010phv.1_Missense_Mutation_p.G616V|FCRL5_uc010phw.1_Missense_Mutation_p.G531V	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	616	Extracellular (Potential).|Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.486804	478.131514	478.18246	166	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157497520	157497520	6035	1	C	A	A	A	390	30	FCRL5	2	2
CASP9	842	broad.mit.edu	37	1	15820426	15820426	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15820426C>A	uc001awn.2	-	c.1119G>T	c.(1117-1119)CAG>CAT	p.Q373H	CASP9_uc001awm.1_Missense_Mutation_p.Q373H|CASP9_uc001awo.2_Missense_Mutation_p.Q223H|CASP9_uc001awp.2_Missense_Mutation_p.Q217H|CASP9_uc009voi.2_Missense_Mutation_p.Q217H|CASP9_uc010obm.1_Missense_Mutation_p.Q290H|CASP9_uc001awq.2_Missense_Mutation_p.Q290H	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	373					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)						893				0.555556	16.575865	16.600018	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15820426	15820426	2798	1	C	A	A	A	259	20	CASP9	2	2
PYHIN1	149628	broad.mit.edu	37	1	158906733	158906733	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158906733G>T	uc001ftb.2	+	c.33G>T	c.(31-33)CTG>CTT	p.L11L	PYHIN1_uc001fta.3_Silent_p.L11L|PYHIN1_uc001ftc.2_Silent_p.L11L|PYHIN1_uc001ftd.2_Silent_p.L11L|PYHIN1_uc001fte.2_Silent_p.L11L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	11	DAPIN.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.153846	18.206402	25.654346	10	55	KEEP	---	---	---	---	capture		Silent	SNP	158906733	158906733	13323	1	G	T	T	T	574	45	PYHIN1	2	2
IFI16	3428	broad.mit.edu	37	1	159023359	159023359	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159023359C>G	uc001ftg.2	+	c.1954C>G	c.(1954-1956)CAA>GAA	p.Q652E	IFI16_uc010pis.1_Missense_Mutation_p.Q652E|IFI16_uc001fth.2_Missense_Mutation_p.Q195E|IFI16_uc010pit.1_Missense_Mutation_p.Q251E	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	708	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nucleolus|nucleoplasm	double-stranded DNA binding|transcription repressor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.114286	5.973492	11.107714	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159023359	159023359	7812	1	C	G	G	G	221	17	IFI16	3	3
FCER1A	2205	broad.mit.edu	37	1	159275854	159275854	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159275854G>T	uc001ftq.2	+	c.408G>T	c.(406-408)AGG>AGT	p.R136S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	136	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane					0	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)									0.076923	-2.446024	14.231248	7	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159275854	159275854	6011	1	G	T	T	T	529	41	FCER1A	2	2
CRP	1401	broad.mit.edu	37	1	159683915	159683915	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159683915C>A	uc001ftw.2	-	c.75G>T	c.(73-75)AAG>AAT	p.K25N	CRP_uc001ftx.1_Missense_Mutation_p.K25N|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	25	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)					63				0.219512	63.280925	72.178679	27	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159683915	159683915	4034	1	C	A	A	A	311	24	CRP	2	2
OLFML2B	25903	broad.mit.edu	37	1	161953755	161953755	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161953755C>G	uc010pkq.1	-	c.1966G>C	c.(1966-1968)GAC>CAC	p.D656H	OLFML2B_uc001gbt.2_Missense_Mutation_p.D138H|OLFML2B_uc001gbu.2_Missense_Mutation_p.D655H	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	655	Olfactomedin-like.										0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.184874	53.486377	64.561356	22	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161953755	161953755	11263	1	C	G	G	G	390	30	OLFML2B	3	3
LMX1A	4009	broad.mit.edu	37	1	165182991	165182991	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165182991C>G	uc001gcy.1	-	c.556G>C	c.(556-558)GCT>CCT	p.A186P	LMX1A_uc001gcz.1_Missense_Mutation_p.A186P|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	186					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4	all_hematologic(923;0.248)													0.157447	73.190836	99.556189	37	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165182991	165182991	9190	1	C	G	G	G	325	25	LMX1A	3	3
LMX1A	4009	broad.mit.edu	37	1	165322458	165322458	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165322458G>A	uc001gcy.1	-	c.118C>T	c.(118-120)CGG>TGG	p.R40W	LMX1A_uc001gcz.1_Missense_Mutation_p.R40W	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	40	LIM zinc-binding 1.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4	all_hematologic(923;0.248)													0.181818	8.187362	10.279435	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165322458	165322458	9190	1	G	A	A	A	493	38	LMX1A	1	1
DUSP27	92235	broad.mit.edu	37	1	167095183	167095183	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167095183G>T	uc001geb.1	+	c.815G>T	c.(814-816)CGG>CTG	p.R272L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	272					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.196429	23.281007	28.109827	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167095183	167095183	5009	1	G	T	T	T	507	39	DUSP27	1	1
DUSP27	92235	broad.mit.edu	37	1	167097132	167097132	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167097132G>T	uc001geb.1	+	c.2764G>T	c.(2764-2766)GCA>TCA	p.A922S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	922	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.222222	46.150449	52.541116	20	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167097132	167097132	5009	1	G	T	T	T	598	46	DUSP27	2	2
F5	2153	broad.mit.edu	37	1	169492510	169492510	+	Silent	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169492510T>C	uc001ggg.1	-	c.5973A>G	c.(5971-5973)ACA>ACG	p.T1991T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1991	F5/8 type C 1.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.156522	32.775231	45.727378	18	97	KEEP	---	---	---	---	capture		Silent	SNP	169492510	169492510	5542	1	T	C	C	C	704	55	F5	4	4
FMO1	2326	broad.mit.edu	37	1	171251350	171251350	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171251350A>C	uc009wvz.2	+	c.1061A>C	c.(1060-1062)AAG>ACG	p.K354T	FMO1_uc010pme.1_Missense_Mutation_p.K291T|FMO1_uc001ghl.2_Missense_Mutation_p.K354T|FMO1_uc001ghm.2_Missense_Mutation_p.K354T|FMO1_uc001ghn.2_Missense_Mutation_p.K354T	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	354					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.149533	24.824926	37.436722	16	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171251350	171251350	6196	1	A	C	C	C	39	3	FMO1	4	4
TNR	7143	broad.mit.edu	37	1	175325528	175325528	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175325528G>T	uc001gkp.1	-	c.3045C>A	c.(3043-3045)ACC>ACA	p.T1015T	TNR_uc009wwu.1_Silent_p.T1015T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1015	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.663793	244.191332	246.94278	77	39	KEEP	---	---	---	---	capture		Silent	SNP	175325528	175325528	16879	1	G	T	T	T	548	43	TNR	2	2
TNR	7143	broad.mit.edu	37	1	175325590	175325590	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175325590C>A	uc001gkp.1	-	c.2983G>T	c.(2983-2985)GAG>TAG	p.E995*	TNR_uc009wwu.1_Nonsense_Mutation_p.E995*	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	995	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.151899	19.448935	28.6155	12	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175325590	175325590	16879	1	C	A	A	A	416	32	TNR	5	2
TNR	7143	broad.mit.edu	37	1	175336425	175336425	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175336425G>T	uc001gkp.1	-	c.1972C>A	c.(1972-1974)CCT>ACT	p.P658T	TNR_uc009wwu.1_Missense_Mutation_p.P658T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	658	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.134615	12.3885	19.119426	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175336425	175336425	16879	1	G	T	T	T	572	44	TNR	2	2
PADI3	51702	broad.mit.edu	37	1	17588668	17588668	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17588668T>A	uc001bai.2	+	c.314T>A	c.(313-315)CTG>CAG	p.L105Q		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	105					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)									0.5	30.575245	30.575245	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17588668	17588668	11795	1	T	A	A	A	715	55	PADI3	3	3
PAPPA2	60676	broad.mit.edu	37	1	176525679	176525679	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176525679G>A	uc001gkz.2	+	c.221G>A	c.(220-222)AGG>AAG	p.R74K	PAPPA2_uc001gky.1_Missense_Mutation_p.R74K|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	74					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														0.18125	128.059824	158.611809	58	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176525679	176525679	11850	1	G	A	A	A	455	35	PAPPA2	2	2
PAPPA2	60676	broad.mit.edu	37	1	176661369	176661369	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176661369C>A	uc001gkz.2	+	c.2539C>A	c.(2539-2541)CCC>ACC	p.P847T	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	847					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														0.224138	184.619032	208.926787	78	270	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176661369	176661369	11850	1	C	A	A	A	286	22	PAPPA2	2	2
PAPPA2	60676	broad.mit.edu	37	1	176734817	176734817	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176734817C>A	uc001gkz.2	+	c.4167C>A	c.(4165-4167)CCC>CCA	p.P1389P	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1389					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														0.172932	47.639154	61.078865	23	110	KEEP	---	---	---	---	capture		Silent	SNP	176734817	176734817	11850	1	C	A	A	A	301	24	PAPPA2	2	2
ASTN1	460	broad.mit.edu	37	1	177001964	177001964	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177001964G>T	uc001glc.2	-	c.493C>A	c.(493-495)CTG>ATG	p.L165M	ASTN1_uc001glb.1_Missense_Mutation_p.L165M|ASTN1_uc001gld.1_Missense_Mutation_p.L165M|ASTN1_uc009wwx.1_Missense_Mutation_p.L165M|ASTN1_uc001gle.3_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	165	Helical; (Potential).				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.225806	28.390581	32.703725	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177001964	177001964	1083	1	G	T	T	T	438	34	ASTN1	2	2
FAM5B	57795	broad.mit.edu	37	1	177242683	177242683	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177242683C>A	uc001glf.2	+	c.729C>A	c.(727-729)GTC>GTA	p.V243V	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_Silent_p.V138V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	243						extracellular region				ovary(2)	2														0.514286	56.249058	56.255199	18	17	KEEP	---	---	---	---	capture		Silent	SNP	177242683	177242683	5816	1	C	A	A	A	366	29	FAM5B	2	2
TEDDM1	127670	broad.mit.edu	37	1	182369011	182369011	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182369011A>T	uc001gpe.2	-	c.610T>A	c.(610-612)TGG>AGG	p.W204R		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	putative membrane protein HE9	204	Helical; (Potential).					integral to membrane				ovary(2)	2														0.717391	114.593527	116.545769	33	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182369011	182369011	16276	1	A	T	T	T	91	7	TEDDM1	3	3
RNASEL	6041	broad.mit.edu	37	1	182555602	182555602	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182555602T>C	uc001gpj.1	-	c.340A>G	c.(340-342)AAA>GAA	p.K114E	RNASEL_uc009wxz.1_Missense_Mutation_p.K114E|RNASEL_uc001gpk.2_Missense_Mutation_p.K114E|RNASEL_uc009wya.1_Missense_Mutation_p.K114E	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	114	ANK 3.				mRNA processing|protein phosphorylation|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)	4										183				0.38	62.715552	63.346199	19	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182555602	182555602	13893	1	T	C	C	C	793	61	RNASEL	4	4
HMCN1	83872	broad.mit.edu	37	1	186086677	186086677	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186086677C>A	uc001grq.1	+	c.11770C>A	c.(11770-11772)CCA>ACA	p.P3924T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3924	Ig-like C2-type 38.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.178571	26.009794	34.175576	15	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186086677	186086677	7511	1	C	A	A	A	390	30	HMCN1	2	2
FAM5C	339479	broad.mit.edu	37	1	190234118	190234118	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190234118G>T	uc001gse.1	-	c.495C>A	c.(493-495)TCC>TCA	p.S165S	FAM5C_uc010pot.1_Silent_p.S63S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	165						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.147541	15.538385	22.812985	9	52	KEEP	---	---	---	---	capture		Silent	SNP	190234118	190234118	5817	1	G	T	T	T	600	47	FAM5C	2	2
PAX7	5081	broad.mit.edu	37	1	19062125	19062125	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19062125G>T	uc001bay.2	+	c.1156_splice	c.e8-1	p.V386_splice	PAX7_uc001baz.2_Splice_Site_SNP_p.V384_splice|PAX7_uc010oct.1_Splice_Site_SNP_p.V386_splice	NM_002584	NP_002575			paired box 7 isoform 1						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				0.486486	52.63993	52.646062	18	19	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	19062125	19062125	11904	1	G	T	T	T	455	35	PAX7	5	2
RGS18	64407	broad.mit.edu	37	1	192153462	192153462	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192153462A>T	uc001gsg.2	+	c.486A>T	c.(484-486)ACA>ACT	p.T162T		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	162	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3														0.129032	11.955936	20.265714	8	54	KEEP	---	---	---	---	capture		Silent	SNP	192153462	192153462	13774	1	A	T	T	T	54	5	RGS18	3	3
UBR4	23352	broad.mit.edu	37	1	19437263	19437263	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19437263C>T	uc001bbi.2	-	c.11865G>A	c.(11863-11865)CTG>CTA	p.L3955L		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3955					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)										0.211538	48.291182	56.295028	22	82	KEEP	---	---	---	---	capture		Silent	SNP	19437263	19437263	17462	1	C	T	T	T	366	29	UBR4	2	2
CFHR3	10878	broad.mit.edu	37	1	196749073	196749073	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196749073T>A	uc001gtl.2	+	c.400T>A	c.(400-402)TGG>AGG	p.W134R	CFHR3_uc001gtk.2_Missense_Mutation_p.W134R|CFHR3_uc010poy.1_Missense_Mutation_p.W134R|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	134	Sushi 2.					extracellular space					0														0.193548	40.190924	48.349715	18	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196749073	196749073	3419	1	T	A	A	A	715	55	CFHR3	3	3
KIF14	9928	broad.mit.edu	37	1	200522786	200522786	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200522786A>G	uc010ppk.1	-	c.4677T>C	c.(4675-4677)TAT>TAC	p.Y1559Y	KIF14_uc010ppj.1_Silent_p.Y1068Y	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1559	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)	5														0.263158	34.897527	37.791004	15	42	KEEP	---	---	---	---	capture		Silent	SNP	200522786	200522786	8587	1	A	G	G	G	102	8	KIF14	4	4
CACNA1S	779	broad.mit.edu	37	1	201030581	201030581	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201030581G>T	uc001gvv.2	-	c.3069C>A	c.(3067-3069)GCC>GCA	p.A1023A		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1023	III.|Extracellular (Potential).|Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.285714	27.839212	29.279155	10	25	KEEP	---	---	---	---	capture		Silent	SNP	201030581	201030581	2663	1	G	T	T	T	600	47	CACNA1S	2	2
C1orf107	27042	broad.mit.edu	37	1	210014250	210014250	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210014250G>T	uc001hhr.1	+	c.1335G>T	c.(1333-1335)TCG>TCT	p.S445S	C1orf107_uc009xcu.1_Silent_p.S160S	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	445					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)										0.512195	210.448773	210.465697	63	60	KEEP	---	---	---	---	capture		Silent	SNP	210014250	210014250	2048	1	G	T	T	T	496	39	C1orf107	1	1
CENPF	1063	broad.mit.edu	37	1	214822055	214822055	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214822055G>A	uc001hkm.2	+	c.7868G>A	c.(7867-7869)AGG>AAG	p.R2623K		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2719	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.278481	61.292882	64.798426	22	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214822055	214822055	3364	1	G	A	A	A	455	35	CENPF	2	2
KCNK2	3776	broad.mit.edu	37	1	215368434	215368434	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215368434A>T	uc001hkq.2	+	c.962A>T	c.(961-963)GAG>GTG	p.E321V	KCNK2_uc001hko.2_Missense_Mutation_p.E317V|KCNK2_uc009xdm.2_Non-coding_Transcript|KCNK2_uc001hkp.2_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.3_Missense_Mutation_p.E306V	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	321	Cytoplasmic (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)									0.169118	47.136728	61.23497	23	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215368434	215368434	8371	1	A	T	T	T	143	11	KCNK2	3	3
KCTD3	51133	broad.mit.edu	37	1	215751388	215751388	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215751388G>T	uc001hks.2	+	c.361G>T	c.(361-363)GGC>TGC	p.G121C	KCTD3_uc001hkt.2_Missense_Mutation_p.G121C|KCTD3_uc010pub.1_Missense_Mutation_p.G19C|KCTD3_uc009xdn.2_5'Flank	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	121						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(2)	2				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)										0.182927	32.267499	40.019769	15	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215751388	215751388	8416	1	G	T	T	T	611	47	KCTD3	2	2
USH2A	7399	broad.mit.edu	37	1	216246634	216246634	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216246634C>A	uc001hku.1	-	c.5581G>T	c.(5581-5583)GGT>TGT	p.G1861C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1861	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.166667	11.725548	15.519596	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216246634	216246634	17598	1	C	A	A	A	273	21	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216390814	216390814	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216390814T>A	uc001hku.1	-	c.3072A>T	c.(3070-3072)AAA>AAT	p.K1024N	USH2A_uc001hkv.2_Missense_Mutation_p.K1024N	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1024	Laminin EGF-like 10.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.347826	43.578077	44.521783	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216390814	216390814	17598	1	T	A	A	A	777	60	USH2A	3	3
SLC30A10	55532	broad.mit.edu	37	1	220100370	220100370	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220100370C>A	uc001hlw.2	-	c.718G>T	c.(718-720)GGT>TGT	p.G240C	SLC30A10_uc001hlu.1_Non-coding_Transcript|SLC30A10_uc001hlx.2_Missense_Mutation_p.G15C	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	240	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		Colon(76;360 1614 43677 51136)								0.333333	44.782275	45.963967	16	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220100370	220100370	15051	1	C	A	A	A	312	24	SLC30A10	2	2
EPRS	2058	broad.mit.edu	37	1	220162134	220162134	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220162134A>T	uc001hly.1	-	c.2573T>A	c.(2572-2574)CTG>CAG	p.L858Q	EPRS_uc010puf.1_Missense_Mutation_p.L609Q|EPRS_uc001hlz.1_Missense_Mutation_p.L865Q	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	858	WHEP-TRS 2.|3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)									0.217391	33.98409	39.070008	15	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220162134	220162134	5384	1	A	T	T	T	91	7	EPRS	3	3
TAF1A	9015	broad.mit.edu	37	1	222753119	222753119	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222753119G>A	uc009xdz.1	-	c.387C>T	c.(385-387)GGC>GGT	p.G129G	TAF1A_uc001hni.1_Silent_p.G15G|TAF1A_uc001hnj.2_Silent_p.G129G|TAF1A_uc001hnk.2_Silent_p.G15G|TAF1A_uc010pur.1_Silent_p.G129G	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	129					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding|general RNA polymerase II transcription factor activity|RNA polymerase I transcription factor activity				0				GBM - Glioblastoma multiforme(131;0.0186)										0.066667	-4.518611	12.996116	6	84	KEEP	---	---	---	---	capture		Silent	SNP	222753119	222753119	16040	1	G	A	A	A	483	38	TAF1A	1	1
MIXL1	83881	broad.mit.edu	37	1	226413423	226413423	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226413423T>A	uc010pvm.1	+	c.609T>A	c.(607-609)AAT>AAA	p.N203K		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Mix-like homeobox protein 1	203					cell differentiation|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		Pancreas(72;1302 1881 20981 22800)								0.373134	73.758644	74.705339	25	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226413423	226413423	9987	1	T	A	A	A	673	52	MIXL1	3	3
C1orf95	375057	broad.mit.edu	37	1	226784576	226784576	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226784576C>G	uc010pvn.1	+	c.276C>G	c.(274-276)GTC>GTG	p.V92V		NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	hypothetical protein LOC375057	92	Helical; (Potential).					integral to membrane				ovary(1)	1	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)										0.326923	50.256132	51.638288	17	35	KEEP	---	---	---	---	capture		Silent	SNP	226784576	226784576	2148	1	C	G	G	G	405	32	C1orf95	3	3
ITPKB	3707	broad.mit.edu	37	1	226923986	226923986	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226923986T>A	uc010pvo.1	-	c.1174A>T	c.(1174-1176)AGG>TGG	p.R392W	ITPKB_uc001hqh.2_Missense_Mutation_p.R392W	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	392							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				Colon(84;110 1851 5306 33547)								0.380952	22.794243	23.055507	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226923986	226923986	8222	1	T	A	A	A	726	56	ITPKB	3	3
ARV1	64801	broad.mit.edu	37	1	231114909	231114909	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231114909G>T	uc009xfl.1	+	c.58G>T	c.(58-60)GCA>TCA	p.A20S	TTC13_uc001huf.3_5'Flank|TTC13_uc009xfi.2_5'Flank|TTC13_uc009xfj.2_5'Flank|TTC13_uc001hug.3_5'Flank|TTC13_uc009xfk.1_5'Flank|ARV1_uc001huh.2_Missense_Mutation_p.A20S	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	ARV1 homolog	20					sphingolipid metabolic process	integral to membrane				breast(2)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)										0.529412	24.565735	24.57799	9	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231114909	231114909	1020	1	G	T	T	T	546	42	ARV1	2	2
SIPA1L2	57568	broad.mit.edu	37	1	232619670	232619670	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232619670C>A	uc001hvg.2	-	c.1849G>T	c.(1849-1851)GGC>TGC	p.G617C		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	617	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.213592	50.492447	58.298253	22	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232619670	232619670	14825	1	C	A	A	A	312	24	SIPA1L2	2	2
RER1	11079	broad.mit.edu	37	1	2328561	2328561	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2328561C>T	uc001aje.1	+	c.88C>T	c.(88-90)CAG>TAG	p.Q30*	RER1_uc001ajf.1_Nonsense_Mutation_p.Q30*	NM_007033	NP_008964	O15258	RER1_HUMAN	RER1 retention in endoplasmic reticulum 1	30					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane					0	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)										0.230769	7.418722	8.281903	3	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2328561	2328561	13699	1	C	T	T	T	377	29	RER1	5	2
LUZP1	7798	broad.mit.edu	37	1	23419477	23419477	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23419477G>A	uc001bgk.2	-	c.1278C>T	c.(1276-1278)TTC>TTT	p.F426F	LUZP1_uc010odv.1_Silent_p.F426F|LUZP1_uc001bgl.2_Silent_p.F426F|LUZP1_uc001bgm.1_Silent_p.F426F	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	426						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)										0.287324	261.304205	275.707669	102	253	KEEP	---	---	---	---	capture		Silent	SNP	23419477	23419477	9462	1	G	A	A	A	581	45	LUZP1	2	2
TARBP1	6894	broad.mit.edu	37	1	234582570	234582570	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234582570T>C	uc001hwd.2	-	c.2113A>G	c.(2113-2115)AAA>GAA	p.K705E		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	705					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)	2	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)											0.091954	6.446026	21.02071	8	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234582570	234582570	16076	1	T	C	C	C	806	62	TARBP1	4	4
GNG4	2786	broad.mit.edu	37	1	235747056	235747056	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235747056C>A	uc001hxe.3	-	c.83G>T	c.(82-84)TGT>TTT	p.C28F	GNG4_uc009xfz.2_Missense_Mutation_p.C28F|GNG4_uc001hxh.3_Missense_Mutation_p.C28F	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein),	28					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)											0.285714	28.156697	29.586254	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235747056	235747056	6798	1	C	A	A	A	221	17	GNG4	2	2
ACTN2	88	broad.mit.edu	37	1	236906333	236906333	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236906333T>A	uc001hyf.2	+	c.1245T>A	c.(1243-1245)ACT>ACA	p.T415T	ACTN2_uc001hyg.2_Silent_p.T207T|ACTN2_uc009xgi.1_Silent_p.T415T|ACTN2_uc010pxu.1_Silent_p.T104T|ACTN2_uc001hyh.2_Silent_p.T103T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	415	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.16129	9.261011	12.64012	5	26	KEEP	---	---	---	---	capture		Silent	SNP	236906333	236906333	206	1	T	A	A	A	717	56	ACTN2	3	3
RYR2	6262	broad.mit.edu	37	1	237670075	237670075	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237670075G>T	uc001hyl.1	+	c.2679G>T	c.(2677-2679)TGG>TGT	p.W893C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	893	Cytoplasmic (By similarity).|1.|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)											0.547945	126.507229	126.653752	40	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237670075	237670075	14249	1	G	T	T	T	559	43	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237947501	237947501	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947501C>A	uc001hyl.1	+	c.12489C>A	c.(12487-12489)CCC>CCA	p.P4163P	RYR2_uc010pya.1_Silent_p.P578P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4163					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)											0.19084	56.129212	67.808028	25	106	KEEP	---	---	---	---	capture		Silent	SNP	237947501	237947501	14249	1	C	A	A	A	275	22	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237993894	237993894	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237993894C>A	uc001hyl.1	+	c.14720C>A	c.(14719-14721)ACC>AAC	p.T4907N	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4907					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)											0.174041	109.701129	143.645859	59	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237993894	237993894	14249	1	C	A	A	A	234	18	RYR2	2	2
ZP4	57829	broad.mit.edu	37	1	238045741	238045741	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238045741G>T	uc001hym.2	-	c.1604C>A	c.(1603-1605)CCA>CAA	p.P535Q	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	535	Cytoplasmic (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.121212	5.177694	9.817079	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238045741	238045741	18822	1	G	T	T	T	611	47	ZP4	2	2
CHRM3	1131	broad.mit.edu	37	1	240071406	240071406	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240071406G>T	uc001hyp.2	+	c.655G>T	c.(655-657)GGA>TGA	p.G219*		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	219	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.546218	206.782318	207.003425	65	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	240071406	240071406	3512	1	G	T	T	T	559	43	CHRM3	5	2
FMN2	56776	broad.mit.edu	37	1	240370945	240370945	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240370945C>A	uc010pye.1	+	c.2845C>A	c.(2845-2847)CCG>ACG	p.P949T	FMN2_uc010pyd.1_Missense_Mutation_p.P945T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	945	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)						p.PPPPLPGAAIP1091del(COV362-Tumor)|p.PPPPLPGAAIP1091del(NCIH2170-Tumor)|p.IPPPPPLPGAA1089del(DMS79-Tumor)|p.PPPPLPGAAIP1091del(HS229.T-Tumor)|p.PPPPLPGAAIP1091del(NCIH441-Tumor)	1289				0.307692	20.099411	20.95158	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240370945	240370945	6192	1	C	A	A	A	390	30	FMN2	2	2
FMN2	56776	broad.mit.edu	37	1	240493995	240493995	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240493995G>T	uc010pye.1	+	c.4542G>T	c.(4540-4542)CAG>CAT	p.Q1514H	FMN2_uc010pyd.1_Missense_Mutation_p.Q1510H|FMN2_uc010pyf.1_Missense_Mutation_p.Q156H|FMN2_uc010pyg.1_Missense_Mutation_p.Q106H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1510	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.25	39.296154	42.704722	15	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240493995	240493995	6192	1	G	T	T	T	451	35	FMN2	2	2
FMN2	56776	broad.mit.edu	37	1	240635700	240635700	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240635700C>A	uc010pye.1	+	c.5101C>A	c.(5101-5103)CAG>AAG	p.Q1701K	FMN2_uc010pyd.1_Missense_Mutation_p.Q1697K|FMN2_uc010pyg.1_Missense_Mutation_p.Q293K|FMN2_uc001hyr.2_Non-coding_Transcript	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1697	Potential.|FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.2	28.470781	33.489066	12	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240635700	240635700	6192	1	C	A	A	A	221	17	FMN2	2	2
KMO	8564	broad.mit.edu	37	1	241725606	241725606	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241725606T>A	uc009xgp.2	+	c.589T>A	c.(589-591)TTG>ATG	p.L197M	KMO_uc001hyy.2_Missense_Mutation_p.L197M|KMO_uc009xgo.1_Missense_Mutation_p.L197M	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	197					oxidation-reduction process|pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)											0.268293	55.414408	59.388405	22	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241725606	241725606	8738	1	T	A	A	A	777	60	KMO	3	3
WDR64	128025	broad.mit.edu	37	1	241901785	241901785	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241901785A>G	uc001hzf.1	+	c.445A>G	c.(445-447)ATT>GTT	p.I149V	WDR64_uc001hze.1_Missense_Mutation_p.I429V	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	429	WD 5.										0	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)											0.487179	63.524484	63.530014	19	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241901785	241901785	17888	1	A	G	G	G	208	16	WDR64	4	4
ZNF695	57116	broad.mit.edu	37	1	247163260	247163260	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247163260C>T	uc009xgu.2	-	c.120G>A	c.(118-120)CTG>CTA	p.L40L	ZNF695_uc001ica.2_Non-coding_Transcript|ZNF695_uc001icb.1_Non-coding_Transcript|ZNF695_uc009xgt.1_Non-coding_Transcript|ZNF695_uc001ibx.2_Silent_p.L40L|ZNF695_uc001iby.2_Non-coding_Transcript|ZNF695_uc001icc.2_Silent_p.L40L	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	40	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-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)											0.21	48.221063	56.002215	21	79	KEEP	---	---	---	---	capture		Silent	SNP	247163260	247163260	18693	1	C	T	T	T	366	29	ZNF695	2	2
ZNF695	57116	broad.mit.edu	37	1	247163267	247163267	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247163267C>T	uc009xgu.2	-	c.113G>A	c.(112-114)AGA>AAA	p.R38K	ZNF695_uc001ica.2_Non-coding_Transcript|ZNF695_uc001icb.1_Non-coding_Transcript|ZNF695_uc009xgt.1_Non-coding_Transcript|ZNF695_uc001ibx.2_Missense_Mutation_p.R38K|ZNF695_uc001iby.2_Non-coding_Transcript|ZNF695_uc001icc.2_Missense_Mutation_p.R38K	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	38	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-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)											0.212121	50.717803	58.303619	21	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247163267	247163267	18693	1	C	T	T	T	416	32	ZNF695	2	2
VN1R5	317705	broad.mit.edu	37	1	247419870	247419870	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247419870G>A	uc010pyu.1	+	c.497G>A	c.(496-498)GGA>GAA	p.G166E		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	166	Helical; Name=5; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			GBM(98;63 1399 4825 21305 33017)								0.230263	83.742366	93.882472	35	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247419870	247419870	17748	1	G	A	A	A	533	41	VN1R5	2	2
NLRP3	114548	broad.mit.edu	37	1	247587296	247587296	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247587296A>G	uc001icr.2	+	c.551A>G	c.(550-552)GAG>GGG	p.E184G	NLRP3_uc001ics.2_Missense_Mutation_p.E184G|NLRP3_uc001icu.2_Missense_Mutation_p.E184G|NLRP3_uc001icw.2_Missense_Mutation_p.E184G|NLRP3_uc001icv.2_Missense_Mutation_p.E184G|NLRP3_uc010pyw.1_Missense_Mutation_p.E182G|NLRP3_uc001ict.1_Missense_Mutation_p.E182G	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	184					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.181818	7.987093	10.079408	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247587296	247587296	10881	1	A	G	G	G	143	11	NLRP3	4	4
OR2W3	343171	broad.mit.edu	37	1	248059203	248059203	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059203G>T	uc001idp.1	+	c.315G>T	c.(313-315)CTG>CTT	p.L105L	OR2W3_uc010pzb.1_Silent_p.L105L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.068966	-1.845936	9.289918	4	54	KEEP	---	---	---	---	capture		Silent	SNP	248059203	248059203	11439	1	G	T	T	T	600	47	OR2W3	2	2
OR2W3	343171	broad.mit.edu	37	1	248059497	248059497	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059497G>T	uc001idp.1	+	c.609G>T	c.(607-609)GCG>GCT	p.A203A	OR2W3_uc010pzb.1_Silent_p.A203A	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.506173	133.483021	133.485923	41	40	KEEP	---	---	---	---	capture		Silent	SNP	248059497	248059497	11439	1	G	T	T	T	496	39	OR2W3	1	1
OR2AK2	391191	broad.mit.edu	37	1	248128867	248128867	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248128867C>A	uc010pzd.1	+	c.234C>A	c.(232-234)CTC>CTA	p.L78L	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.441341	237.200446	237.736952	79	100	KEEP	---	---	---	---	capture		Silent	SNP	248128867	248128867	11392	1	C	A	A	A	366	29	OR2AK2	2	2
OR2AK2	391191	broad.mit.edu	37	1	248128912	248128913	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248128912_248128913GC>TT	uc010pzd.1	+	c.279_280GC>TT	c.(277-282)GTGCCC>GTTTCC	p.P94S	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	94	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.320896	115.962816	119.789496	43	91	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	248128912	248128913	11392	1	GC	TT	TT	TT	587	46	OR2AK2	2	2
OR2AK2	391191	broad.mit.edu	37	1	248129452	248129452	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248129452C>A	uc010pzd.1	+	c.819C>A	c.(817-819)ACC>ACA	p.T273T	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	273	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.470588	99.19354	99.244842	32	36	KEEP	---	---	---	---	capture		Silent	SNP	248129452	248129452	11392	1	C	A	A	A	301	24	OR2AK2	2	2
OR2L2	26246	broad.mit.edu	37	1	248202321	248202321	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248202321A>C	uc001idw.2	+	c.752A>C	c.(751-753)TAT>TCT	p.Y251S	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.19802	51.649309	60.217744	20	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248202321	248202321	11413	1	A	C	C	C	208	16	OR2L2	4	4
OR2M5	127059	broad.mit.edu	37	1	248308751	248308751	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248308751T>G	uc010pze.1	+	c.302T>G	c.(301-303)ATT>AGT	p.I101S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)											0.215385	105.198475	119.738463	42	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248308751	248308751	11419	1	T	G	G	G	676	52	OR2M5	4	4
OR2G6	391211	broad.mit.edu	37	1	248685079	248685079	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685079C>A	uc001ien.1	+	c.132C>A	c.(130-132)GCC>GCA	p.A44A		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.230088	60.914513	68.445801	26	87	KEEP	---	---	---	---	capture		Silent	SNP	248685079	248685079	11406	1	C	A	A	A	275	22	OR2G6	2	2
OR14I1	401994	broad.mit.edu	37	1	248844738	248844738	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248844738G>T	uc001ieu.1	-	c.868C>A	c.(868-870)CTT>ATT	p.L290I		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.194444	13.402548	16.540052	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248844738	248844738	11353	1	G	T	T	T	429	33	OR14I1	2	2
C1orf135	79000	broad.mit.edu	37	1	26162282	26162282	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26162282G>A	uc001bkw.1	-	c.276C>T	c.(274-276)ATC>ATT	p.I92I		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	92											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)										0.5	58.722869	58.722869	19	19	KEEP	---	---	---	---	capture		Silent	SNP	26162282	26162282	2066	1	G	A	A	A	577	45	C1orf135	2	2
NKAIN1	79570	broad.mit.edu	37	1	31656765	31656765	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:31656765G>T	uc010ogd.1	-	c.370C>A	c.(370-372)CGC>AGC	p.R124S	NKAIN1_uc001bsn.2_Missense_Mutation_p.R80S|NKAIN1_uc010ogc.1_Missense_Mutation_p.R53S	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	124						integral to membrane|plasma membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)								OREG0004725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.617647	68.88143	69.294485	21	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31656765	31656765	10836	1	G	T	T	T	507	39	NKAIN1	1	1
BSDC1	55108	broad.mit.edu	37	1	32842055	32842055	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32842055C>A	uc010ohg.1	-	c.1015G>T	c.(1015-1017)GAT>TAT	p.D339Y	BSDC1_uc001bvh.3_Missense_Mutation_p.D322Y|BSDC1_uc010ohh.1_Missense_Mutation_p.D266Y|BSDC1_uc010ohi.1_Missense_Mutation_p.D227Y|BSDC1_uc001bvg.3_Non-coding_Transcript|BSDC1_uc001bvj.2_Missense_Mutation_p.D218Y|BSDC1_uc001bvi.2_Missense_Mutation_p.D339Y	NM_001143888	NP_001137360	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform a	322							protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.521127	107.37982	107.407953	37	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32842055	32842055	1559	1	C	A	A	A	390	30	BSDC1	2	2
HPCA	3208	broad.mit.edu	37	1	33354567	33354567	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33354567C>G	uc001bwh.2	+	c.68C>G	c.(67-69)TCA>TGA	p.S23*		NM_002143	NP_002134	P84074	HPCA_HUMAN	hippocalcin	23							actin binding|calcium ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)												0.28	61.442657	64.706477	21	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33354567	33354567	7621	1	C	G	G	G	377	29	HPCA	5	3
PRDM16	63976	broad.mit.edu	37	1	3348615	3348615	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3348615G>A	uc001akf.2	+	c.3607G>A	c.(3607-3609)GAG>AAG	p.E1203K	PRDM16_uc001akc.2_Missense_Mutation_p.E1202K|PRDM16_uc001akd.2_Missense_Mutation_p.E1202K|PRDM16_uc001ake.2_Missense_Mutation_p.E1203K|PRDM16_uc009vlh.2_Missense_Mutation_p.E903K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1203	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)						1161				0.285714	15.641431	16.506776	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3348615	3348615	12899	1	G	A	A	A	585	45	PRDM16	2	2
ZMYM4	9202	broad.mit.edu	37	1	35862195	35862195	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35862195C>T	uc001byt.2	+	c.2954C>T	c.(2953-2955)CCC>CTC	p.P985L	ZMYM4_uc009vuu.2_Missense_Mutation_p.P953L|ZMYM4_uc001byu.2_Missense_Mutation_p.P661L|ZMYM4_uc009vuv.2_Missense_Mutation_p.P724L	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	985					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.486842	118.573365	118.584763	37	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35862195	35862195	18293	1	C	T	T	T	286	22	ZMYM4	2	2
ZMYM4	9202	broad.mit.edu	37	1	35870651	35870651	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35870651G>T	uc001byt.2	+	c.3556G>T	c.(3556-3558)GAG>TAG	p.E1186*	ZMYM4_uc009vuu.2_Nonsense_Mutation_p.E1154*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.E862*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.E925*	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1186					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.295455	32.159152	33.805609	13	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35870651	35870651	18293	1	G	T	T	T	533	41	ZMYM4	5	2
NFYC	4802	broad.mit.edu	37	1	41223798	41223798	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41223798G>C	uc001cge.2	+	c.393G>C	c.(391-393)GAG>GAC	p.E131D	NFYC_uc010ojm.1_Missense_Mutation_p.E37D|NFYC_uc001cfx.3_Missense_Mutation_p.E131D|NFYC_uc009vwd.2_Missense_Mutation_p.E131D|NFYC_uc001cfz.2_Missense_Mutation_p.E131D|NFYC_uc010ojn.1_Missense_Mutation_p.E93D|NFYC_uc001cfy.3_Missense_Mutation_p.E131D|NFYC_uc001cgc.2_Missense_Mutation_p.E131D|NFYC_uc001cgb.2_Missense_Mutation_p.E131D|NFYC_uc001cgd.3_Missense_Mutation_p.E131D	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma isoform 1	131					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|kidney(1)	3	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)											0.263158	14.567141	15.530426	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41223798	41223798	10791	1	G	C	C	C	451	35	NFYC	3	3
KIAA0467	23334	broad.mit.edu	37	1	43908875	43908875	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43908875G>A	uc001cjk.1	+	c.5739G>A	c.(5737-5739)ATG>ATA	p.M1913I		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2812						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.171053	22.324205	30.10607	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43908875	43908875	8485	1	G	A	A	A	585	45	KIAA0467	2	2
TMEM53	79639	broad.mit.edu	37	1	45125889	45125889	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45125889T>A	uc001cmc.2	-	c.140A>T	c.(139-141)AAG>ATG	p.K47M	TMEM53_uc001cmb.1_Missense_Mutation_p.K47M|TMEM53_uc001cmd.2_Intron|TMEM53_uc009vxh.1_De_novo_Start_InFrame|TMEM53_uc010ola.1_De_novo_Start_InFrame	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	47						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)													0.528302	84.698847	84.73571	28	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45125889	45125889	16718	1	T	A	A	A	728	56	TMEM53	3	3
CYP4B1	1580	broad.mit.edu	37	1	47279642	47279642	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47279642G>T	uc001cqn.3	+	c.682G>T	c.(682-684)GTG>TTG	p.V228L	CYP4B1_uc009vyl.1_Missense_Mutation_p.V64L|CYP4B1_uc001cqm.3_Missense_Mutation_p.V227L|CYP4B1_uc009vym.2_Missense_Mutation_p.V213L|CYP4B1_uc010omk.1_Missense_Mutation_p.V64L|CYP4B1_uc010oml.1_Missense_Mutation_p.V65L	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	227					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.313043	101.440477	105.029319	36	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47279642	47279642	4350	1	G	T	T	T	624	48	CYP4B1	2	2
AJAP1	55966	broad.mit.edu	37	1	4772112	4772112	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:4772112C>A	uc001alm.1	+	c.182C>A	c.(181-183)CCC>CAC	p.P61H	AJAP1_uc001aln.2_Missense_Mutation_p.P61H	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	61	Extracellular (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)										0.625	15.075972	15.18553	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4772112	4772112	441	1	C	A	A	A	286	22	AJAP1	2	2
USP24	23358	broad.mit.edu	37	1	55589146	55589146	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55589146C>A	uc001cyg.3	-	c.3770G>T	c.(3769-3771)TGC>TTC	p.C1257F		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1417					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13														0.269841	42.536333	45.556737	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55589146	55589146	17618	1	C	A	A	A	325	25	USP24	2	2
HOOK1	51361	broad.mit.edu	37	1	60328496	60328496	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:60328496G>C	uc009wad.2	+	c.1573G>C	c.(1573-1575)GAG>CAG	p.E525Q	HOOK1_uc001czo.2_Missense_Mutation_p.E525Q|HOOK1_uc001czp.2_Non-coding_Transcript|HOOK1_uc010oor.1_Missense_Mutation_p.E483Q	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	525	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)													0.268817	75.748979	80.224951	25	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60328496	60328496	7574	1	G	C	C	C	585	45	HOOK1	3	3
CHD5	26038	broad.mit.edu	37	1	6202513	6202513	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6202513C>A	uc001amb.1	-	c.2196G>T	c.(2194-2196)ACG>ACT	p.T732T	CHD5_uc001ama.1_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	732	ATP (Potential).|Helicase ATP-binding.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)						2304				0.235294	10.093552	11.181388	4	13	KEEP	---	---	---	---	capture		Silent	SNP	6202513	6202513	3462	1	C	A	A	A	288	23	CHD5	1	1
DNAJC6	9829	broad.mit.edu	37	1	65874456	65874456	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65874456A>T	uc001dce.1	+	c.2624A>T	c.(2623-2625)GAG>GTG	p.E875V	DNAJC6_uc001dcd.1_Missense_Mutation_p.E818V|DNAJC6_uc010opc.1_Missense_Mutation_p.E805V	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	818					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3														0.114286	4.573835	9.708287	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65874456	65874456	4836	1	A	T	T	T	143	11	DNAJC6	3	3
LEPR	3953	broad.mit.edu	37	1	66058460	66058460	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66058460C>G	uc001dci.2	+	c.615C>G	c.(613-615)CTC>CTG	p.L205L	LEPR_uc001dcg.2_Silent_p.L205L|LEPR_uc001dch.2_Silent_p.L205L|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.L205L|LEPR_uc001dck.2_Silent_p.L205L	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	205	Extracellular (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity				0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)										0.363636	49.385654	50.106444	16	28	KEEP	---	---	---	---	capture		Silent	SNP	66058460	66058460	9052	1	C	G	G	G	366	29	LEPR	3	3
PDE4B	5142	broad.mit.edu	37	1	66829204	66829204	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66829204G>T	uc001dcn.2	+	c.1234G>T	c.(1234-1236)GCT>TCT	p.A412S	PDE4B_uc009war.2_Missense_Mutation_p.A320S|PDE4B_uc001dco.2_Missense_Mutation_p.A412S|PDE4B_uc001dcp.2_Missense_Mutation_p.A397S|PDE4B_uc001dcq.2_Missense_Mutation_p.A240S|PDE4B_uc009was.2_Missense_Mutation_p.A179S	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	412					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)									0.409091	27.170981	27.329794	9	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66829204	66829204	12061	1	G	T	T	T	598	46	PDE4B	2	2
SLC35D1	23169	broad.mit.edu	37	1	67470088	67470088	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67470088C>A	uc001ddk.2	-	c.1003G>T	c.(1003-1005)GAG>TAG	p.E335*		NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	335					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)									0.42	59.057605	59.338601	21	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	67470088	67470088	15078	1	C	A	A	A	416	32	SLC35D1	5	2
LRRC7	57554	broad.mit.edu	37	1	70504333	70504333	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70504333T>A	uc001dep.2	+	c.2712T>A	c.(2710-2712)AGT>AGA	p.S904R	LRRC7_uc009wbg.2_Missense_Mutation_p.S188R|LRRC7_uc001deq.2_Missense_Mutation_p.S145R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	904						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.230769	28.076998	31.528606	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70504333	70504333	9396	1	T	A	A	A	751	58	LRRC7	3	3
LRRC7	57554	broad.mit.edu	37	1	70587567	70587567	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70587567C>A	uc001dep.2	+	c.4611C>A	c.(4609-4611)GTC>GTA	p.V1537V	LRRC7_uc009wbg.2_Silent_p.V821V|LRRC7_uc001deq.2_Silent_p.V731V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1537						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.25	9.391183	10.301122	4	12	KEEP	---	---	---	---	capture		Silent	SNP	70587567	70587567	9396	1	C	A	A	A	405	32	LRRC7	2	2
TNNI3K	51086	broad.mit.edu	37	1	74808830	74808830	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74808830A>T	uc001dge.1	+	c.1202A>T	c.(1201-1203)AAG>ATG	p.K401M	TNNI3K_uc001dgc.1_Missense_Mutation_p.K401M|TNNI3K_uc001dgd.2_Missense_Mutation_p.K401M|TNNI3K_uc001dgf.1_Missense_Mutation_p.K300M	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	300					protein phosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10										765				0.2	11.259974	13.353187	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74808830	74808830	16870	1	A	T	T	T	39	3	TNNI3K	3	3
C1orf173	127254	broad.mit.edu	37	1	75114991	75114991	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75114991G>T	uc001dgg.2	-	c.32C>A	c.(31-33)GCT>GAT	p.A11D		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	11										ovary(3)|central_nervous_system(1)	4														0.183673	37.887323	47.09303	18	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75114991	75114991	2081	1	G	T	T	T	442	34	C1orf173	2	2
MSH4	4438	broad.mit.edu	37	1	76349377	76349378	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76349377_76349378GA>TT	uc001dhd.1	+	c.1978_1979GA>TT	c.(1978-1980)GAA>TTA	p.E660L		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	660					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(1)|lung(1)	2														0.413793	33.791704	33.980548	12	17	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	76349377	76349378	10265	1	GA	TT	TT	TT	533	41	MSH4	2	2
CAMTA1	23261	broad.mit.edu	37	1	7796531	7796531	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7796531G>C	uc001aoi.2	+	c.3194G>C	c.(3193-3195)GGA>GCA	p.G1065A	CAMTA1_uc010nzv.1_Missense_Mutation_p.G152A|CAMTA1_uc001aok.3_Missense_Mutation_p.G108A|CAMTA1_uc001aoj.2_Missense_Mutation_p.G21A	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1065	ANK 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)										0.320755	52.767858	54.274402	17	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7796531	7796531	2730	1	G	C	C	C	533	41	CAMTA1	3	3
DNAJB4	11080	broad.mit.edu	37	1	78478905	78478905	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78478905G>T	uc001dij.2	+	c.382G>T	c.(382-384)GAT>TAT	p.D128Y	DNAJB4_uc010orn.1_Missense_Mutation_p.D13Y	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	128					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding				0														0.23	53.170563	59.855919	23	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78478905	78478905	4805	1	G	T	T	T	429	33	DNAJB4	2	2
IFI44L	10964	broad.mit.edu	37	1	79107493	79107493	+	Nonstop_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79107493G>T	uc010oro.1	+	c.1358G>T	c.(1357-1359)TGA>TTA	p.*453L	IFI44L_uc010orp.1_Nonstop_Mutation_p.*190L|IFI44L_uc010orq.1_Nonstop_Mutation_p.*190L	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	453						cytoplasm					0														0.230769	127.413348	142.973853	54	180	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	79107493	79107493	7819	1	G	T	T	T	581	45	IFI44L	5	2
MCOLN3	55283	broad.mit.edu	37	1	85506817	85506817	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85506817T>A	uc001dkp.2	-	c.272A>T	c.(271-273)AAG>ATG	p.K91M	MCOLN3_uc001dkq.2_Intron|MCOLN3_uc001dkr.2_Missense_Mutation_p.K91M|MCOLN3_uc001dks.3_De_novo_Start_InFrame	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	91						integral to membrane	ion channel activity				0				all cancers(265;0.00957)|Epithelial(280;0.0254)										0.348837	44.319865	45.183354	15	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85506817	85506817	9786	1	T	A	A	A	728	56	MCOLN3	3	3
CLCA2	9635	broad.mit.edu	37	1	86904742	86904742	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86904742G>T	uc001dlr.3	+	c.1156G>T	c.(1156-1158)GCT>TCT	p.A386S		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	386	VWFA.|Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.306667	64.197704	66.696882	23	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86904742	86904742	3594	1	G	T	T	T	442	34	CLCA2	2	2
TMED5	50999	broad.mit.edu	37	1	93625730	93625730	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:93625730G>A	uc001dpn.2	-	c.243C>T	c.(241-243)GGC>GGT	p.G81G	TMED5_uc001dpo.2_Silent_p.G81G|TMED5_uc001dpp.2_Non-coding_Transcript	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain	81	GOLD.|Lumenal (Potential).				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				ovary(1)	1		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)										0.454545	30.247367	30.28698	10	12	KEEP	---	---	---	---	capture		Silent	SNP	93625730	93625730	16537	1	G	A	A	A	587	46	TMED5	2	2
SPSB1	80176	broad.mit.edu	37	1	9415995	9415995	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9415995G>T	uc010oae.1	+	c.45G>T	c.(43-45)AGG>AGT	p.R15S	SPSB1_uc001apv.2_Missense_Mutation_p.R15S	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box	15					intracellular signal transduction	cytoplasm					0	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)										0.238095	11.264186	12.580462	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9415995	9415995	15626	1	G	T	T	T	555	43	SPSB1	2	2
ABCA4	24	broad.mit.edu	37	1	94574175	94574175	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94574175G>C	uc001dqh.2	-	c.400C>G	c.(400-402)CAA>GAA	p.Q134E	ABCA4_uc010otn.1_Missense_Mutation_p.Q134E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	134	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)										0.204082	20.883033	24.927145	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94574175	94574175	35	1	G	C	C	C	611	47	ABCA4	3	3
C20orf94	128710	broad.mit.edu	37	20	10603340	10603340	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:10603340G>C	uc010zre.1	+	c.540G>C	c.(538-540)ACG>ACC	p.T180T		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	180							protein binding				0														0.444444	81.297317	81.441791	24	30	KEEP	---	---	---	---	capture		Silent	SNP	10603340	10603340	2201	20	G	C	C	C	470	37	C20orf94	3	3
KIF16B	55614	broad.mit.edu	37	20	16253910	16253910	+	Silent	SNP	G	A	A	rs75213889	by1000genomes	TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:16253910G>A	uc002wpg.1	-	c.3942C>T	c.(3940-3942)CAC>CAT	p.H1314H	KIF16B_uc002wpe.1_Silent_p.H666H|KIF16B_uc002wpf.1_Silent_p.H655H|KIF16B_uc010gch.1_Silent_p.H1263H	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1314					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.305556	26.513493	27.726859	11	25	KEEP	---	---	---	---	capture		Silent	SNP	16253910	16253910	8589	20	G	A	A	A	516	40	KIF16B	1	1
PDYN	5173	broad.mit.edu	37	20	1961359	1961359	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1961359G>A	uc010gaj.2	-	c.375C>T	c.(373-375)AGC>AGT	p.S125S	PDYN_uc002wfv.2_Silent_p.S125S|PDYN_uc010zpt.1_Intron	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	125					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			ovary(1)	1														0.25	77.951667	85.215465	32	96	KEEP	---	---	---	---	capture		Silent	SNP	1961359	1961359	12120	20	G	A	A	A	542	42	PDYN	2	2
CD93	22918	broad.mit.edu	37	20	23066137	23066137	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23066137G>T	uc002wsv.2	-	c.693C>A	c.(691-693)GAC>GAA	p.D231E		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	231	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	integral to membrane|plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)													0.26087	31.877463	34.260398	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23066137	23066137	3175	20	G	T	T	T	516	40	CD93	1	1
ZNF343	79175	broad.mit.edu	37	20	2464419	2464419	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2464419G>A	uc002wge.1	-	c.1188C>T	c.(1186-1188)CTC>CTT	p.L396L	ZNF343_uc010gao.1_Silent_p.L396L|ZNF343_uc002wgd.1_Silent_p.L306L	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	396	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.297297	58.416716	61.138174	22	52	KEEP	---	---	---	---	capture		Silent	SNP	2464419	2464419	18450	20	G	A	A	A	574	45	ZNF343	2	2
TMC2	117532	broad.mit.edu	37	20	2575566	2575566	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2575566G>T	uc002wgf.1	+	c.1029G>T	c.(1027-1029)ATG>ATT	p.M343I	TMC2_uc002wgg.1_Missense_Mutation_p.M327I|TMC2_uc010zpw.1_Missense_Mutation_p.M175I|TMC2_uc010zpx.1_Missense_Mutation_p.M174I	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	343	Helical; (Potential).					integral to membrane				ovary(3)	3														0.68	49.15427	49.86564	17	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2575566	2575566	16515	20	G	T	T	T	611	47	TMC2	2	2
DEFB116	245930	broad.mit.edu	37	20	29891163	29891163	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:29891163T>C	uc010ztm.1	-	c.161A>G	c.(160-162)TAT>TGT	p.Y54C		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	beta-defensin 116 precursor	54					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)											0.302703	332.745569	345.61278	112	258	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29891163	29891163	4582	20	T	C	C	C	637	49	DEFB116	4	4
C20orf71	128861	broad.mit.edu	37	20	31814281	31814281	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31814281C>A	uc002wyr.2	+	c.606C>A	c.(604-606)CAC>CAA	p.H202Q	C20orf71_uc002wys.2_Missense_Mutation_p.H166Q	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	short long palate, lung and nasal epithelium	202						extracellular region	lipid binding			ovary(1)	1														0.15625	9.753256	13.36339	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31814281	31814281	2197	20	C	A	A	A	220	17	C20orf71	2	2
C20orf194	25943	broad.mit.edu	37	20	3285094	3285094	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3285094T>C	uc002wii.2	-	c.1775A>G	c.(1774-1776)TAT>TGT	p.Y592C	C20orf194_uc002wij.3_Missense_Mutation_p.Y331C|C20orf194_uc002wik.2_Missense_Mutation_p.Y266C	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	592											0														0.229167	28.903434	32.130182	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3285094	3285094	2177	20	T	C	C	C	637	49	C20orf194	4	4
SLA2	84174	broad.mit.edu	37	20	35261997	35261997	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35261997G>C	uc002xfv.2	-	c.227C>G	c.(226-228)TCA>TGA	p.S76*	SLA2_uc002xfu.2_Nonsense_Mutation_p.S76*	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2 isoform a	76	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				Ovarian(59;720 1165 26994 46188 51693)								0.228571	21.781993	24.146825	8	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35261997	35261997	14859	20	G	C	C	C	585	45	SLA2	5	3
CTNNBL1	56259	broad.mit.edu	37	20	36431270	36431270	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36431270G>C	uc010zvw.1	+	c.1033G>C	c.(1033-1035)GAA>CAA	p.E345Q	CTNNBL1_uc002xhh.2_Missense_Mutation_p.E158Q|CTNNBL1_uc002xhi.2_Non-coding_Transcript|CTNNBL1_uc002xhj.2_Missense_Mutation_p.E93Q	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	345					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				Ovarian(184;582 2038 3273 4106 42608)								0.254545	40.824941	43.766065	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36431270	36431270	4177	20	G	C	C	C	533	41	CTNNBL1	3	3
RPRD1B	58490	broad.mit.edu	37	20	36676823	36676823	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36676823G>T	uc002xho.3	+	c.355G>T	c.(355-357)GGC>TGC	p.G119C		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Regulation of nuclear pre-mRNA domain containing	119	CID.									pancreas(1)	1														0.627907	89.535334	90.154212	27	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36676823	36676823	14095	20	G	T	T	T	507	39	RPRD1B	1	1
KIAA1755	85449	broad.mit.edu	37	20	36846687	36846687	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36846687T>C	uc002xhy.1	-	c.2638A>G	c.(2638-2640)AAA>GAA	p.K880E	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Missense_Mutation_p.K158E	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	880										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.277778	28.540798	30.136398	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36846687	36846687	8568	20	T	C	C	C	806	62	KIAA1755	4	4
MYBL2	4605	broad.mit.edu	37	20	42315707	42315707	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42315707A>G	uc002xlb.1	+	c.495A>G	c.(493-495)CCA>CCG	p.P165P	MYBL2_uc010zwj.1_Silent_p.P141P|MYBL2_uc002xla.1_Silent_p.P165P	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	165	HTH myb-type 3.|H-T-H motif (By similarity).				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)							380				0.571429	13.400865	13.431999	4	3	KEEP	---	---	---	---	capture		Silent	SNP	42315707	42315707	10405	20	A	G	G	G	80	7	MYBL2	4	4
RBPJL	11317	broad.mit.edu	37	20	43942153	43942153	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43942153G>T	uc002xns.2	+	c.665G>T	c.(664-666)CGC>CTC	p.R222L	RBPJL_uc002xnt.2_Missense_Mutation_p.R222L	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	222	By similarity.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.567568	69.679166	69.826783	21	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43942153	43942153	13631	20	G	T	T	T	494	38	RBPJL	1	1
KCNB1	3745	broad.mit.edu	37	20	47990218	47990218	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47990218G>T	uc002xur.1	-	c.1879C>A	c.(1879-1881)CGG>AGG	p.R627R	KCNB1_uc002xus.1_Silent_p.R627R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	627	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.192308	11.862008	14.158989	5	21	KEEP	---	---	---	---	capture		Silent	SNP	47990218	47990218	8317	20	G	T	T	T	493	38	KCNB1	1	1
KCNB1	3745	broad.mit.edu	37	20	48098460	48098460	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:48098460C>A	uc002xur.1	-	c.558G>T	c.(556-558)GTG>GTT	p.V186V	KCNB1_uc002xus.1_Silent_p.V186V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	186	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.550459	187.485511	187.724709	60	49	KEEP	---	---	---	---	capture		Silent	SNP	48098460	48098460	8317	20	C	A	A	A	262	21	KCNB1	2	2
PTGIS	5740	broad.mit.edu	37	20	48127626	48127626	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:48127626G>A	uc002xut.2	-	c.1297C>T	c.(1297-1299)CCC>TCC	p.P433S	PTGIS_uc010zyi.1_Missense_Mutation_p.P294S	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	433					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|prostaglandin-I synthase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)									0.4	16.746008	16.877436	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48127626	48127626	13207	20	G	A	A	A	546	42	PTGIS	2	2
SLC23A2	9962	broad.mit.edu	37	20	4843540	4843540	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4843540C>A	uc002wlg.1	-	c.1370G>T	c.(1369-1371)CGC>CTC	p.R457L	SLC23A2_uc010zqr.1_Missense_Mutation_p.R342L|SLC23A2_uc002wlh.1_Missense_Mutation_p.R457L	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	457					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2														0.2	12.071866	14.155961	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4843540	4843540	14960	20	C	A	A	A	351	27	SLC23A2	1	1
NFATC2	4773	broad.mit.edu	37	20	50139722	50139722	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50139722C>A	uc002xwd.2	-	c.1058G>T	c.(1057-1059)GGG>GTG	p.G353V	NFATC2_uc002xwc.2_Missense_Mutation_p.G353V|NFATC2_uc010zyv.1_Missense_Mutation_p.G134V|NFATC2_uc010zyw.1_Missense_Mutation_p.G134V|NFATC2_uc010zyx.1_Missense_Mutation_p.G333V|NFATC2_uc010zyy.1_Missense_Mutation_p.G134V|NFATC2_uc010zyz.1_Missense_Mutation_p.G134V|NFATC2_uc002xwe.2_Missense_Mutation_p.G333V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	353					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)	2	Hepatocellular(150;0.248)													0.181818	13.723919	17.872301	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50139722	50139722	10762	20	C	A	A	A	286	22	NFATC2	2	2
ZFP64	55734	broad.mit.edu	37	20	50701509	50701509	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50701509C>A	uc002xwk.2	-	c.1525G>T	c.(1525-1527)GCC>TCC	p.A509S	ZFP64_uc002xwj.2_Missense_Mutation_p.A290S	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	357	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.4375	43.350779	43.458525	14	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50701509	50701509	18241	20	C	A	A	A	351	27	ZFP64	1	1
CBLN4	140689	broad.mit.edu	37	20	54579067	54579067	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:54579067C>A	uc002xxa.2	-	c.161G>T	c.(160-162)GGC>GTC	p.G54V		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	54						cell junction|extracellular region|synapse				ovary(3)|pancreas(1)	4			Colorectal(105;0.202)											0.192308	9.463462	11.760484	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54579067	54579067	2826	20	C	A	A	A	338	26	CBLN4	2	2
BMP7	655	broad.mit.edu	37	20	55758869	55758869	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55758869G>T	uc010gip.1	-	c.867C>A	c.(865-867)CGC>CGA	p.R289R	BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Silent_p.R289R	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	289					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)											0.285714	13.132646	14.004435	6	15	KEEP	---	---	---	---	capture		Silent	SNP	55758869	55758869	1490	20	G	T	T	T	587	46	BMP7	2	2
ARFGAP1	55738	broad.mit.edu	37	20	61910280	61910280	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61910280G>T	uc002yel.2	+	c.560G>T	c.(559-561)GGG>GTG	p.G187V	ARFGAP1_uc011aas.1_Missense_Mutation_p.G134V|ARFGAP1_uc011aat.1_Missense_Mutation_p.G74V|ARFGAP1_uc002yem.2_Missense_Mutation_p.G187V|ARFGAP1_uc002yen.2_Missense_Mutation_p.G187V	NM_175609	NP_783202	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	187					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)													0.333333	8.327169	8.545997	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61910280	61910280	860	20	G	T	T	T	559	43	ARFGAP1	2	2
C20orf103	24141	broad.mit.edu	37	20	9496154	9496154	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9496154C>A	uc002wni.1	+	c.119C>A	c.(118-120)TCC>TAC	p.S40Y	C20orf103_uc010zrc.1_Missense_Mutation_p.S40Y	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	chromosome 20 open reading frame 103 precursor	40	Extracellular (Potential).					integral to membrane				lung(1)|breast(1)	2			COAD - Colon adenocarcinoma(9;0.194)											0.190476	16.180715	19.93874	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9496154	9496154	2151	20	C	A	A	A	390	30	C20orf103	2	2
TMPRSS15	5651	broad.mit.edu	37	21	19642343	19642343	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:19642343G>T	uc002ykw.2	-	c.3003C>A	c.(3001-3003)CCC>CCA	p.P1001P		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	1001	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|breast(1)	6														0.666667	106.567303	107.676119	30	15	KEEP	---	---	---	---	capture		Silent	SNP	19642343	19642343	16787	21	G	T	T	T	496	39	TMPRSS15	1	1
ADAMTS5	11096	broad.mit.edu	37	21	28307047	28307047	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28307047G>A	uc002ymg.2	-	c.1427C>T	c.(1426-1428)CCA>CTA	p.P476L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	476	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.771429	92.442928	94.809074	27	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28307047	28307047	270	21	G	A	A	A	611	47	ADAMTS5	2	2
KRTAP27-1	643812	broad.mit.edu	37	21	31709463	31709463	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31709463G>T	uc002ynx.1	-	c.524C>A	c.(523-525)CCT>CAT	p.P175H		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	175						intermediate filament				ovary(2)	2														0.693182	192.39708	195.324649	61	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31709463	31709463	8866	21	G	T	T	T	455	35	KRTAP27-1	2	2
KRTAP13-1	140258	broad.mit.edu	37	21	31768471	31768471	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31768471G>T	uc002yoa.2	+	c.67G>T	c.(67-69)GCC>TCC	p.A23S		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	23						intermediate filament				ovary(1)	1														0.736842	174.612066	178.464228	56	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768471	31768471	8837	21	G	T	T	T	442	34	KRTAP13-1	2	2
KRTAP12-2	353323	broad.mit.edu	37	21	46086600	46086600	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46086600C>T	uc002zfu.2	-	c.204G>A	c.(202-204)ATG>ATA	p.M68I	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	keratin associated protein 12-2	68	23 X 5 AA approximate repeats.|10.					keratin filament					0														0.779412	166.292947	171.174185	53	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46086600	46086600	8834	21	C	T	T	T	377	29	KRTAP12-2	2	2
POTEH	23784	broad.mit.edu	37	22	16287437	16287437	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:16287437C>A	uc010gqp.2	-	c.449G>T	c.(448-450)GGC>GTC	p.G150V	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	150											0														0.072464	-7.513959	31.40504	15	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16287437	16287437	12697	22	C	A	A	A	338	26	POTEH	2	2
POTEH	23784	broad.mit.edu	37	22	16287674	16287674	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:16287674C>A	uc010gqp.2	-	c.212G>T	c.(211-213)TGG>TTG	p.W71L	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	71											0														0.19	76.205205	94.22603	38	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16287674	16287674	12697	22	C	A	A	A	273	21	POTEH	2	2
PEX26	55670	broad.mit.edu	37	22	18570840	18570840	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18570840G>A	uc002znp.3	+	c.917G>A	c.(916-918)TGA>TAA	p.*306*	TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.*306*|PEX26_uc002znt.2_Silent_p.*257*	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	peroxisome biogenesis factor 26	306					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding				0														0.612903	58.229507	58.575762	19	12	KEEP	---	---	---	---	capture		Silent	SNP	18570840	18570840	12168	22	G	A	A	A	581	45	PEX26	2	2
ZNF74	7625	broad.mit.edu	37	22	20759683	20759683	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:20759683G>T	uc010gsm.2	+	c.360G>T	c.(358-360)GCG>GCT	p.A120A	ZNF74_uc002zsg.2_Silent_p.A49A|ZNF74_uc002zsh.2_Silent_p.A120A|ZNF74_uc002zsi.2_Silent_p.A49A|ZNF74_uc010gsn.2_Silent_p.A49A	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	120					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)											0.388889	84.298657	85.071986	28	44	KEEP	---	---	---	---	capture		Silent	SNP	20759683	20759683	18725	22	G	T	T	T	496	39	ZNF74	1	1
ZNF280A	129025	broad.mit.edu	37	22	22868873	22868873	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22868873C>A	uc002zwe.2	-	c.1082G>T	c.(1081-1083)GGG>GTG	p.G361V	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)										0.544118	117.637905	117.76373	37	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22868873	22868873	18406	22	C	A	A	A	286	22	ZNF280A	2	2
C22orf43	51233	broad.mit.edu	37	22	23968190	23968190	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:23968190T>C	uc002zxf.2	-	c.254A>G	c.(253-255)GAG>GGG	p.E85G		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	hypothetical protein LOC51233	85											0														0.204082	25.021609	29.004586	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23968190	23968190	2232	22	T	C	C	C	702	54	C22orf43	4	4
MYO18B	84700	broad.mit.edu	37	22	26219563	26219563	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26219563C>A	uc003abz.1	+	c.2613C>A	c.(2611-2613)TTC>TTA	p.F871L	MYO18B_uc003aca.1_Missense_Mutation_p.F752L|MYO18B_uc010guy.1_Missense_Mutation_p.F752L|MYO18B_uc010guz.1_Missense_Mutation_p.F752L|MYO18B_uc011aka.1_Missense_Mutation_p.F25L|MYO18B_uc011akb.1_Missense_Mutation_p.F384L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	871	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.35443	74.467144	75.946838	28	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26219563	26219563	10461	22	C	A	A	A	376	29	MYO18B	2	2
MYO18B	84700	broad.mit.edu	37	22	26231281	26231282	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26231281_26231282GG>AT	uc003abz.1	+	c.3079_3080GG>AT	c.(3079-3081)GGA>ATA	p.G1027I	MYO18B_uc003aca.1_Missense_Mutation_p.G908I|MYO18B_uc010guy.1_Missense_Mutation_p.G909I|MYO18B_uc010guz.1_Missense_Mutation_p.G908I|MYO18B_uc011aka.1_Missense_Mutation_p.G181I|MYO18B_uc011akb.1_Missense_Mutation_p.G540I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1027	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12									p.G1027E(MEWO-Tumor)	968				0.434783	31.547016	31.632238	10	13	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	26231281	26231282	10461	22	GG	AT	AT	AT	455	35	MYO18B	2	2
ISX	91464	broad.mit.edu	37	22	35463223	35463223	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:35463223G>T	uc003anj.2	+	c.143G>T	c.(142-144)AGA>ATA	p.R48I	ISX_uc011amg.1_Missense_Mutation_p.R36I	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	48					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(3)	3														0.375	7.421062	7.531441	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35463223	35463223	8169	22	G	T	T	T	429	33	ISX	2	2
TRIOBP	11078	broad.mit.edu	37	22	38130882	38130882	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38130882G>T	uc003atr.2	+	c.4539G>T	c.(4537-4539)ACG>ACT	p.T1513T	TRIOBP_uc003atu.2_Silent_p.T1341T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1513					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)													0.5	10.227306	10.227306	3	3	KEEP	---	---	---	---	capture		Silent	SNP	38130882	38130882	17103	22	G	T	T	T	470	37	TRIOBP	1	1
PDGFB	5155	broad.mit.edu	37	22	39631851	39631851	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39631851T>C	uc003axf.2	-	c.92A>G	c.(91-93)GAG>GGG	p.E31G	PDGFB_uc003axe.2_Missense_Mutation_p.E16G	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	31					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity|transcription activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)					92				0.3	9.023036	9.379285	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39631851	39631851	12079	22	T	C	C	C	702	54	PDGFB	4	4
SYNGR1	9145	broad.mit.edu	37	22	39777783	39777783	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39777783G>T	uc003axq.3	+	c.566G>T	c.(565-567)AGC>ATC	p.S189I	TAB1_uc003axr.2_Intron	NM_004711	NP_004702	O43759	SNG1_HUMAN	synaptogyrin 1 isoform 1a	189					regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity	cell junction|integral to plasma membrane|melanosome					0	Melanoma(58;0.04)													0.533333	24.499897	24.514308	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39777783	39777783	15969	22	G	T	T	T	442	34	SYNGR1	2	2
MGAT3	4248	broad.mit.edu	37	22	39883522	39883522	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39883522C>T	uc003axv.3	+	c.170C>T	c.(169-171)ACG>ATG	p.T57M	MGAT3_uc010gxy.2_Missense_Mutation_p.T57M	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	57	Lumenal (Potential).|Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)													0.428571	51.451789	51.63634	18	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39883522	39883522	9934	22	C	T	T	T	247	19	MGAT3	1	1
GRAP2	9402	broad.mit.edu	37	22	40364155	40364155	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40364155C>G	uc003ayh.1	+	c.569C>G	c.(568-570)CCC>CGC	p.P190R	GRAP2_uc003ayi.2_Non-coding_Transcript|GRAP2_uc011aom.1_Missense_Mutation_p.P164R|GRAP2_uc011aon.1_Missense_Mutation_p.P124R|GRAP2_uc010gya.1_Missense_Mutation_p.P190R|GRAP2_uc011aoo.1_Missense_Mutation_p.P118R|GRAP2_uc011aop.1_Missense_Mutation_p.P150R|GRAP2_uc011aoq.1_Missense_Mutation_p.P77R|GRAP2_uc003ayj.1_Missense_Mutation_p.P190R	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	190					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)	1														0.75	9.629182	9.853636	3	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40364155	40364155	7030	22	C	G	G	G	286	22	GRAP2	3	3
CPT1B	1375	broad.mit.edu	37	22	51010693	51010693	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:51010693T>C	uc003bmk.3	-	c.1397A>G	c.(1396-1398)CAG>CGG	p.Q466R	CPT1B_uc003bml.2_Missense_Mutation_p.Q466R|CPT1B_uc003bmm.2_Missense_Mutation_p.Q466R|CPT1B_uc003bmo.2_Missense_Mutation_p.Q466R|CPT1B_uc011asa.1_Missense_Mutation_p.Q432R|CPT1B_uc003bmn.2_Missense_Mutation_p.Q466R|CPT1B_uc011asb.1_Missense_Mutation_p.Q385R|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.Q263R	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	466	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		Esophageal Squamous(170;988 1933 25577 30295 48163)								0.5	17.648822	17.648822	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51010693	51010693	3971	22	T	C	C	C	715	55	CPT1B	4	4
PDCL3	79031	broad.mit.edu	37	2	101179519	101179519	+	De_novo_Start_OutOfFrame	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101179519C>A	uc002tao.2	+	c.-10C>A	c.(-12--8)AACTG>AAATG			NM_024065	NP_076970			phosducin-like 3						apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0														0.6	19.651803	19.739248	6	4	KEEP	---	---	---	---	capture		De_novo_Start_OutOfFrame	SNP	101179519	101179519	12049	2	C	A	A	A	248	20	PDCL3	5	2
IL1RL1	9173	broad.mit.edu	37	2	102957235	102957235	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102957235A>T	uc002tbu.1	+	c.557A>T	c.(556-558)AAT>ATT	p.N186I	IL1RL1_uc010ywa.1_Missense_Mutation_p.N69I|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.N186I	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	186	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			ovary(1)|central_nervous_system(1)|skin(1)	3														0.175439	43.740266	55.056084	20	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102957235	102957235	7964	2	A	T	T	T	52	4	IL1RL1	3	3
IL18RAP	8807	broad.mit.edu	37	2	103040329	103040329	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103040329C>A	uc002tbx.2	+	c.129C>A	c.(127-129)GTC>GTA	p.V43V	IL18RAP_uc010fiz.2_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	43	Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			ovary(2)	2														0.580645	55.15214	55.327771	18	13	KEEP	---	---	---	---	capture		Silent	SNP	103040329	103040329	7949	2	C	A	A	A	405	32	IL18RAP	2	2
SLC9A4	389015	broad.mit.edu	37	2	103095305	103095305	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103095305C>A	uc002tbz.3	+	c.264C>A	c.(262-264)CAC>CAA	p.H88Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	88					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.114286	7.155845	17.424429	8	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103095305	103095305	15213	2	C	A	A	A	233	18	SLC9A4	2	2
IL1F8	27177	broad.mit.edu	37	2	113786647	113786647	+	Missense_Mutation	SNP	G	A	A	rs77781981	by1000genomes	TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113786647G>A	uc002tiq.1	-	c.130C>T	c.(130-132)CAT>TAT	p.H44Y	IL1F8_uc002tir.1_Missense_Mutation_p.H44Y	NM_014438	NP_055253	Q9NZH7	IL1F8_HUMAN	interleukin 1 family, member 8 isoform 1	44					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1														0.306122	41.205448	42.848667	15	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113786647	113786647	7957	2	G	A	A	A	585	45	IL1F8	2	2
DPP10	57628	broad.mit.edu	37	2	116599815	116599815	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:116599815C>T	uc002tle.2	+	c.2297C>T	c.(2296-2298)TCT>TTT	p.S766F	DPP10_uc002tla.1_Missense_Mutation_p.S762F|DPP10_uc002tlb.1_Missense_Mutation_p.S712F|DPP10_uc002tlc.1_Missense_Mutation_p.S758F|DPP10_uc002tlf.1_Missense_Mutation_p.S755F	NM_001004360	NP_001004360	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform short	762	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.09434	3.047815	11.797919	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116599815	116599815	4911	2	C	T	T	T	416	32	DPP10	2	2
CNTNAP5	129684	broad.mit.edu	37	2	124979373	124979373	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:124979373C>A	uc010flu.2	+	c.174C>A	c.(172-174)CTC>CTA	p.L58L	CNTNAP5_uc002tno.2_Silent_p.L58L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	58	F5/8 type C.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.075	-0.608362	6.805871	3	37	KEEP	---	---	---	---	capture		Silent	SNP	124979373	124979373	3788	2	C	A	A	A	366	29	CNTNAP5	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125530379	125530379	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125530379C>A	uc010flu.2	+	c.2537C>A	c.(2536-2538)CCT>CAT	p.P846H	CNTNAP5_uc002tno.2_Missense_Mutation_p.P845H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	845	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)										0.056075	-8.840868	13.329078	6	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125530379	125530379	3788	2	C	A	A	A	312	24	CNTNAP5	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125530474	125530474	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125530474G>A	uc010flu.2	+	c.2632G>A	c.(2632-2634)GTC>ATC	p.V878I	CNTNAP5_uc002tno.2_Missense_Mutation_p.V877I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	877	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)										0.203822	66.406641	79.197936	32	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125530474	125530474	3788	2	G	A	A	A	624	48	CNTNAP5	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125622900	125622900	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125622900T>A	uc010flu.2	+	c.3235T>A	c.(3235-3237)TAT>AAT	p.Y1079N	CNTNAP5_uc002tno.2_Missense_Mutation_p.Y1078N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1078	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.535714	48.326295	48.357302	15	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125622900	125622900	3788	2	T	A	A	A	689	53	CNTNAP5	3	3
PROC	5624	broad.mit.edu	37	2	128186270	128186270	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128186270C>T	uc010yzk.1	+	c.1299C>T	c.(1297-1299)AGC>AGT	p.S433S	PROC_uc002tok.2_Silent_p.S378S|PROC_uc002tol.2_Silent_p.S399S|PROC_uc010yzi.1_Silent_p.S434S|PROC_uc010yzj.1_Silent_p.S273S|PROC_uc002tom.2_Silent_p.S412S	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	378	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)									0.640449	174.699168	176.250378	57	32	KEEP	---	---	---	---	capture		Silent	SNP	128186270	128186270	12988	2	C	T	T	T	324	25	PROC	2	2
AMMECR1L	83607	broad.mit.edu	37	2	128631784	128631784	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128631784G>A	uc002tpl.2	-	c.25C>T	c.(25-27)CCA>TCA	p.P9S	AMMECR1L_uc002tpm.2_Missense_Mutation_p.P9S	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	9										central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)										0.147059	7.261007	11.324138	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128631784	128631784	582	2	G	A	A	A	533	41	AMMECR1L	2	2
POTEF	728378	broad.mit.edu	37	2	130877974	130877974	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130877974C>T	uc010fmh.2	-	c.115G>A	c.(115-117)GGC>AGC	p.G39S		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	39						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.471698	76.671129	76.707798	25	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130877974	130877974	12695	2	C	T	T	T	299	23	POTEF	1	1
NCKAP5	344148	broad.mit.edu	37	2	133540014	133540014	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133540014G>T	uc002ttp.2	-	c.4370C>A	c.(4369-4371)ACC>AAC	p.T1457N	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1457							protein binding				0														0.407407	34.224073	34.425053	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133540014	133540014	10622	2	G	T	T	T	572	44	NCKAP5	2	2
R3HDM1	23518	broad.mit.edu	37	2	136393668	136393668	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136393668G>A	uc002tuo.2	+	c.818G>A	c.(817-819)CGT>CAT	p.R273H	R3HDM1_uc010fni.2_Missense_Mutation_p.R271H|R3HDM1_uc002tup.2_Missense_Mutation_p.R217H|R3HDM1_uc010zbh.1_Missense_Mutation_p.R105H	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	273							nucleic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.127)										0.103448	5.344879	14.392574	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136393668	136393668	13346	2	G	A	A	A	520	40	R3HDM1	1	1
R3HDM1	23518	broad.mit.edu	37	2	136393711	136393711	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136393711A>G	uc002tuo.2	+	c.861A>G	c.(859-861)GAA>GAG	p.E287E	R3HDM1_uc010fni.2_Silent_p.E285E|R3HDM1_uc002tup.2_Silent_p.E231E|R3HDM1_uc010zbh.1_Silent_p.E119E	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	287							nucleic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.127)										0.225352	44.561868	49.481806	16	55	KEEP	---	---	---	---	capture		Silent	SNP	136393711	136393711	13346	2	A	G	G	G	37	3	R3HDM1	4	4
LCT	3938	broad.mit.edu	37	2	136569960	136569960	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136569960G>T	uc002tuu.1	-	c.2274C>A	c.(2272-2274)CCC>CCA	p.P758P		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	758	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.35	60.656228	61.847659	21	39	KEEP	---	---	---	---	capture		Silent	SNP	136569960	136569960	9017	2	G	T	T	T	600	47	LCT	2	2
LCT	3938	broad.mit.edu	37	2	136575035	136575035	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136575035G>A	uc002tuu.1	-	c.1583C>T	c.(1582-1584)TCC>TTC	p.S528F		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	528	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.325	36.361972	37.448595	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136575035	136575035	9017	2	G	A	A	A	533	41	LCT	2	2
MCM6	4175	broad.mit.edu	37	2	136626298	136626298	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136626298C>G	uc002tuw.2	-	c.498G>C	c.(496-498)AGG>AGC	p.R166S		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	166					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	Ovarian(196;141 2104 8848 24991 25939)								0.118644	8.591027	17.012132	7	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136626298	136626298	9780	2	C	G	G	G	285	22	MCM6	3	3
ARHGAP15	55843	broad.mit.edu	37	2	143974009	143974009	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:143974009A>G	uc002tvm.3	+	c.291A>G	c.(289-291)AAA>AAG	p.K97K	ARHGAP15_uc010zbl.1_Silent_p.K97K	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	97	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.151)										0.153846	20.811639	28.254482	10	55	KEEP	---	---	---	---	capture		Silent	SNP	143974009	143974009	877	2	A	G	G	G	24	2	ARHGAP15	4	4
NEB	4703	broad.mit.edu	37	2	152484310	152484310	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152484310G>T	uc010fnx.2	-	c.9141C>A	c.(9139-9141)CAC>CAA	p.H3047Q		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3047					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.055215	-13.562889	20.287525	9	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152484310	152484310	10701	2	G	T	T	T	568	44	NEB	2	2
NEB	4703	broad.mit.edu	37	2	152507102	152507102	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152507102C>A	uc010fnx.2	-	c.7213G>T	c.(7213-7215)GAA>TAA	p.E2405*		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2405	Nebulin 64.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.31746	53.375231	55.242828	20	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152507102	152507102	10701	2	C	A	A	A	377	29	NEB	5	2
PRPF40A	55660	broad.mit.edu	37	2	153572544	153572545	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:153572544_153572545TC>AA	uc002tyh.3	-	c.180_181GA>TT	c.(178-183)CAGATG>CATTTG	p.60_61QM>HL	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|PRPF40A_uc010zcd.1_Missense_Mutation_p.60_61QM>HL|PRPF40A_uc002tyi.2_Missense_Mutation_p.87_88QM>HL|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Missense_Mutation_p.87_88QM>HL	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	87_88					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0														0.25974	52.171246	56.192015	20	57	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	153572544	153572545	13014	2	TC	AA	AA	AA	650	50	PRPF40A	3	3
GALNT13	114805	broad.mit.edu	37	2	155265518	155265518	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155265518A>T	uc002tyt.3	+	c.1319A>T	c.(1318-1320)CAG>CTG	p.Q440L	GALNT13_uc002tyr.3_Missense_Mutation_p.Q440L|GALNT13_uc010foc.1_Missense_Mutation_p.Q259L|GALNT13_uc010fod.2_Missense_Mutation_p.Q193L	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	440	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														0.506667	126.851453	126.85437	38	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155265518	155265518	6475	2	A	T	T	T	91	7	GALNT13	3	3
KCNJ3	3760	broad.mit.edu	37	2	155711443	155711443	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155711443C>A	uc002tyv.1	+	c.1124C>A	c.(1123-1125)GCC>GAC	p.A375D	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	375	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)									0.496644	227.141405	227.14291	74	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155711443	155711443	8357	2	C	A	A	A	338	26	KCNJ3	2	2
NR4A2	4929	broad.mit.edu	37	2	157186347	157186347	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:157186347C>A	uc002tyz.3	-	c.352G>T	c.(352-354)GGG>TGG	p.G118W	NR4A2_uc002tyx.3_Missense_Mutation_p.G55W|NR4A2_uc010zcf.1_Missense_Mutation_p.G118W|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	118	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3														0.157895	11.527948	15.766609	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157186347	157186347	11038	2	C	A	A	A	299	23	NR4A2	1	1
ACVR1	90	broad.mit.edu	37	2	158617481	158617481	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158617481T>A	uc002tzm.3	-	c.1175A>T	c.(1174-1176)CAG>CTG	p.Q392L	ACVR1_uc002tzn.3_Missense_Mutation_p.Q392L|ACVR1_uc010fog.2_Missense_Mutation_p.Q392L	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	392	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein phosphorylation|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)					185				0.150685	21.577079	30.111689	11	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158617481	158617481	221	2	T	A	A	A	715	55	ACVR1	3	3
UPP2	151531	broad.mit.edu	37	2	158974392	158974392	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158974392C>A	uc002tzo.2	+	c.567C>A	c.(565-567)CTC>CTA	p.L189L	UPP2_uc002tzp.2_Silent_p.L132L	NM_001135098	NP_001128570	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform b	132					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0														0.271028	71.726593	76.787083	29	78	KEEP	---	---	---	---	capture		Silent	SNP	158974392	158974392	17574	2	C	A	A	A	379	30	UPP2	2	2
BAZ2B	29994	broad.mit.edu	37	2	160287560	160287560	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160287560T>C	uc002uao.2	-	c.2008A>G	c.(2008-2010)ATG>GTG	p.M670V	BAZ2B_uc002uap.2_Missense_Mutation_p.M668V|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.M243V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.254902	35.650788	38.430657	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160287560	160287560	1353	2	T	C	C	C	676	52	BAZ2B	4	4
MYCN	4613	broad.mit.edu	37	2	16082254	16082254	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:16082254C>A	uc002rci.2	+	c.68C>A	c.(67-69)TCG>TAG	p.S23*	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Nonsense_Mutation_p.S15*	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	23					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)							50				0.2	9.288703	10.96265	4	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	16082254	16082254	10416	2	C	A	A	A	403	31	MYCN	5	1
SLC4A10	57282	broad.mit.edu	37	2	162711524	162711524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162711524G>A	uc002ubx.3	+	c.461G>A	c.(460-462)TGG>TAG	p.W154*	SLC4A10_uc010fpa.1_Nonsense_Mutation_p.W166*|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc002uby.3_Nonsense_Mutation_p.W154*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.W165*	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	154	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.157895	11.52493	15.766149	6	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	162711524	162711524	15148	2	G	A	A	A	611	47	SLC4A10	5	2
SCN2A	6326	broad.mit.edu	37	2	166166888	166166888	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166166888C>T	uc002udc.2	+	c.753C>T	c.(751-753)GTC>GTT	p.V251V	SCN2A_uc002udd.2_Silent_p.V251V|SCN2A_uc002ude.2_Silent_p.V251V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	251	I.|Helical; Name=S5 of repeat I; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.151685	41.58656	62.310664	27	151	KEEP	---	---	---	---	capture		Silent	SNP	166166888	166166888	14398	2	C	T	T	T	366	29	SCN2A	2	2
SCN2A	6326	broad.mit.edu	37	2	166179875	166179875	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166179875G>T	uc002udc.2	+	c.1881G>T	c.(1879-1881)CAG>CAT	p.Q627H	SCN2A_uc002udd.2_Missense_Mutation_p.Q627H|SCN2A_uc002ude.2_Missense_Mutation_p.Q627H	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	627					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.565217	38.47507	38.560062	13	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166179875	166179875	14398	2	G	T	T	T	451	35	SCN2A	2	2
SCN2A	6326	broad.mit.edu	37	2	166245669	166245669	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166245669G>T	uc002udc.2	+	c.5353G>T	c.(5353-5355)GAA>TAA	p.E1785*	SCN2A_uc002udd.2_Nonsense_Mutation_p.E1785*|SCN2A_uc002ude.2_Nonsense_Mutation_p.E1785*	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1785	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.191083	60.161189	74.163606	30	127	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	166245669	166245669	14398	2	G	T	T	T	429	33	SCN2A	5	2
SCN1A	6323	broad.mit.edu	37	2	166850735	166850735	+	Silent	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166850735T>C	uc010zcz.1	-	c.4740A>G	c.(4738-4740)AAA>AAG	p.K1580K		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1591	Helical; Name=S2 of repeat IV; (By similarity).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|large_intestine(1)	7					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)									0.125	10.220792	16.810535	6	42	KEEP	---	---	---	---	capture		Silent	SNP	166850735	166850735	14396	2	T	C	C	C	777	60	SCN1A	4	4
SCN7A	6332	broad.mit.edu	37	2	167330312	167330312	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167330312A>T	uc002udu.1	-	c.440T>A	c.(439-441)TTA>TAA	p.L147*	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	147	Helical; Name=S2 of repeat I; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.115385	3.807589	7.59442	3	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	167330312	167330312	14405	2	A	T	T	T	169	13	SCN7A	5	3
XIRP2	129446	broad.mit.edu	37	2	168096434	168096434	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168096434G>T	uc002udx.2	+	c.928G>T	c.(928-930)GGG>TGG	p.G310W	XIRP2_uc010fpn.2_Missense_Mutation_p.G343W|XIRP2_uc010fpo.2_Missense_Mutation_p.G310W|XIRP2_uc010fpp.2_Missense_Mutation_p.G310W|XIRP2_uc002udy.2_Missense_Mutation_p.G135W|XIRP2_uc010fpq.2_Missense_Mutation_p.G88W|XIRP2_uc010fpr.2_Missense_Mutation_p.G88W	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	135					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.212766	24.569552	28.119968	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168096434	168096434	18011	2	G	T	T	T	455	35	XIRP2	2	2
STK39	27347	broad.mit.edu	37	2	168921885	168921885	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168921885C>A	uc002uea.2	-	c.1249G>T	c.(1249-1251)GTG>TTG	p.V417L		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	417					protein phosphorylation|response to stress	cytoplasm|nucleus	ATP binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2										264				0.310345	50.227528	52.08644	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168921885	168921885	15825	2	C	A	A	A	260	20	STK39	2	2
ABCB11	8647	broad.mit.edu	37	2	169781256	169781256	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169781256G>A	uc002ueo.1	-	c.3676C>T	c.(3676-3678)CGC>TGC	p.R1226C	ABCB11_uc010zda.1_Missense_Mutation_p.R644C|ABCB11_uc010zdb.1_Missense_Mutation_p.R702C	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1226	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)									0.151515	9.054315	12.891464	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169781256	169781256	43	2	G	A	A	A	520	40	ABCB11	1	1
TLK1	9874	broad.mit.edu	37	2	171863020	171863020	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171863020T>C	uc002ugo.2	-	c.1795A>G	c.(1795-1797)ATC>GTC	p.I599V	TLK1_uc002ugn.2_Missense_Mutation_p.I578V|TLK1_uc002ugp.2_Missense_Mutation_p.I530V|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Missense_Mutation_p.I482V	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 2	578	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|protein phosphorylation|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1										247				0.146341	21.946341	31.804672	12	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171863020	171863020	16473	2	T	C	C	C	650	50	TLK1	4	4
PDK1	5163	broad.mit.edu	37	2	173451035	173451035	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:173451035G>T	uc002uhq.1	+	c.1035G>T	c.(1033-1035)TTG>TTT	p.L345F	PDK1_uc010zdz.1_Missense_Mutation_p.L170F|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhr.2_Missense_Mutation_p.L325F|PDK1_uc002uhs.2_Missense_Mutation_p.L325F|PDK1_uc010zeb.1_Missense_Mutation_p.L345F	NM_002610	NP_002601	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase 1 precursor	325	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.12)							211				0.196078	21.819328	26.210835	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173451035	173451035	12096	2	G	T	T	T	581	45	PDK1	2	2
GPR155	151556	broad.mit.edu	37	2	175346449	175346449	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175346449C>A	uc002uit.2	-	c.236G>T	c.(235-237)AGA>ATA	p.R79I	GPR155_uc002uiu.2_Missense_Mutation_p.R79I|GPR155_uc002uiv.2_Missense_Mutation_p.R79I|GPR155_uc010fqs.2_Missense_Mutation_p.R79I	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	79					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1														0.25	38.968317	42.605168	16	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175346449	175346449	6935	2	C	A	A	A	416	32	GPR155	2	2
WIPF1	7456	broad.mit.edu	37	2	175432714	175432714	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175432714C>A	uc010fqt.1	-	c.1217G>T	c.(1216-1218)GGA>GTA	p.G406V	WIPF1_uc002uja.2_Missense_Mutation_p.G406V|WIPF1_uc002uiy.2_Missense_Mutation_p.G406V|WIPF1_uc002uiz.2_Missense_Mutation_p.G406V|WIPF1_uc002ujb.1_Missense_Mutation_p.G406V	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	406	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)	1														0.238095	11.464754	12.780545	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175432714	175432714	17941	2	C	A	A	A	390	30	WIPF1	2	2
CHRNA1	1134	broad.mit.edu	37	2	175622403	175622403	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175622403G>T	uc002ujd.2	-	c.310C>A	c.(310-312)CAA>AAA	p.Q104K	CHRNA1_uc002uje.2_Missense_Mutation_p.Q79K|CHRNA1_uc002ujf.3_Missense_Mutation_p.Q79K	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	104	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)	3														0.518519	41.746317	41.754187	14	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175622403	175622403	3515	2	G	T	T	T	598	46	CHRNA1	2	2
ATP5G3	518	broad.mit.edu	37	2	176043979	176043979	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176043979C>T	uc002ujz.3	-	c.121_splice	c.e3-1	p.G41_splice	ATP5G3_uc002uka.3_Splice_Site_SNP_p.G41_splice|ATP5G3_uc002ukb.1_Intron	NM_001002258	NP_001002258			ATP synthase, H+ transporting, mitochondrial F0						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GBM(30;387 605 18606 28805 47989)								0.388889	43.742768	44.131862	14	22	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	176043979	176043979	1174	2	C	T	T	T	312	24	ATP5G3	5	2
HOXD12	3238	broad.mit.edu	37	2	176965452	176965452	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176965452C>G	uc010zev.1	+	c.777C>G	c.(775-777)CGC>CGG	p.R259R	HOXD12_uc010zew.1_3'UTR	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	259	Homeobox.				regulation of transcription, DNA-dependent	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)										0.7	23.628169	23.985434	7	3	KEEP	---	---	---	---	capture		Silent	SNP	176965452	176965452	7613	2	C	G	G	G	340	27	HOXD12	3	3
HOXD11	3237	broad.mit.edu	37	2	176972320	176972320	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176972320C>A	uc002uki.2	+	c.237C>A	c.(235-237)GGC>GGA	p.G79G	HOXD11_uc010fqx.2_Intron	NM_021192	NP_067015	P31277	HXD11_HUMAN	homeobox D11	79					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)						35				1	11.848696	11.730871	3	0	KEEP	---	---	---	---	capture		Silent	SNP	176972320	176972320	7612	2	C	A	A	A	340	27	HOXD11	1	1
PDE11A	50940	broad.mit.edu	37	2	178592849	178592849	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178592849C>G	uc002ulq.2	-	c.1840G>C	c.(1840-1842)GAT>CAT	p.D614H	PDE11A_uc002ulp.2_Missense_Mutation_p.D170H|PDE11A_uc002ulr.2_Missense_Mutation_p.D364H|PDE11A_uc002uls.1_Missense_Mutation_p.D256H|PDE11A_uc002ult.1_Missense_Mutation_p.D364H|PDE11A_uc002ulu.1_Missense_Mutation_p.D256H	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	614					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)											0.086207	1.527596	11.59221	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178592849	178592849	12052	2	C	G	G	G	377	29	PDE11A	3	3
TTN	7273	broad.mit.edu	37	2	179422842	179422842	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179422842C>G	uc010zfg.1	-	c.79535G>C	c.(79534-79536)AGA>ACA	p.R26512T	TTN_uc010zfh.1_Missense_Mutation_p.R20207T|TTN_uc010zfi.1_Missense_Mutation_p.R20140T|TTN_uc010zfj.1_Missense_Mutation_p.R20015T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4194										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				0.129032	15.883277	28.47791	12	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179422842	179422842	17290	2	C	G	G	G	416	32	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179429693	179429693	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179429693T>C	uc010zfg.1	-	c.73462A>G	c.(73462-73464)AGT>GGT	p.S24488G	TTN_uc010zfh.1_Missense_Mutation_p.S18183G|TTN_uc010zfi.1_Missense_Mutation_p.S18116G|TTN_uc010zfj.1_Missense_Mutation_p.S17991G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2257										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				0.148936	29.586351	40.700762	14	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179429693	179429693	17290	2	T	C	C	C	728	56	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179437781	179437781	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179437781C>G	uc010zfg.1	-	c.65374G>C	c.(65374-65376)GTT>CTT	p.V21792L	TTN_uc010zfh.1_Missense_Mutation_p.V15487L|TTN_uc010zfi.1_Missense_Mutation_p.V15420L|TTN_uc010zfj.1_Missense_Mutation_p.V15295L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1503										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				0.107143	3.604072	7.891819	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179437781	179437781	17290	2	C	G	G	G	234	18	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179454078	179454078	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179454078C>A	uc010zfg.1	-	c.54670G>T	c.(54670-54672)GGG>TGG	p.G18224W	TTN_uc010zfh.1_Missense_Mutation_p.G11919W|TTN_uc010zfi.1_Missense_Mutation_p.G11852W|TTN_uc010zfj.1_Missense_Mutation_p.G11727W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1578										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				0.453125	84.563756	84.686689	29	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179454078	179454078	17290	2	C	A	A	A	312	24	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179457205	179457205	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179457205C>T	uc010zfg.1	-	c.51823G>A	c.(51823-51825)GAA>AAA	p.E17275K	TTN_uc010zfh.1_Missense_Mutation_p.E10970K|TTN_uc010zfi.1_Missense_Mutation_p.E10903K|TTN_uc010zfj.1_Missense_Mutation_p.E10778K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1001										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				0.195876	41.772899	50.132691	19	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179457205	179457205	17290	2	C	T	T	T	377	29	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179457668	179457668	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179457668C>A	uc010zfg.1	-	c.51474G>T	c.(51472-51474)GAG>GAT	p.E17158D	TTN_uc010zfh.1_Missense_Mutation_p.E10853D|TTN_uc010zfi.1_Missense_Mutation_p.E10786D|TTN_uc010zfj.1_Missense_Mutation_p.E10661D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										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				0.448276	156.788311	157.057966	52	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179457668	179457668	17290	2	C	A	A	A	259	20	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179469545	179469545	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179469545C>T	uc010zfg.1	-	c.46567G>A	c.(46567-46569)GAT>AAT	p.D15523N	TTN_uc010zfh.1_Missense_Mutation_p.D9218N|TTN_uc010zfi.1_Missense_Mutation_p.D9151N|TTN_uc010zfj.1_Missense_Mutation_p.D9026N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3625										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				0.177419	22.486708	28.563938	11	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179469545	179469545	17290	2	C	T	T	T	377	29	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179499460	179499460	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179499460C>A	uc010zfg.1	-	c.34437G>T	c.(34435-34437)TTG>TTT	p.L11479F	TTN_uc010zfh.1_Missense_Mutation_p.L5174F|TTN_uc010zfi.1_Missense_Mutation_p.L5107F|TTN_uc010zfj.1_Missense_Mutation_p.L4982F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1755										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				0.273437	91.663892	97.587673	35	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179499460	179499460	17290	2	C	A	A	A	376	29	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179579978	179579978	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179579978G>A	uc010zfg.1	-	c.22203C>T	c.(22201-22203)TTC>TTT	p.F7401F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.F4062F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3334										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)						p.F7401L(NB1-Tumor)	8722				0.164557	24.622019	33.064739	13	66	KEEP	---	---	---	---	capture		Silent	SNP	179579978	179579978	17290	2	G	A	A	A	529	41	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179632585	179632585	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179632585A>T	uc010zfg.1	-	c.9372T>A	c.(9370-9372)GCT>GCA	p.A3124A	TTN_uc010zfh.1_Silent_p.A3078A|TTN_uc010zfi.1_Silent_p.A3078A|TTN_uc010zfj.1_Silent_p.A3078A|TTN_uc002unb.2_Silent_p.A3124A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3124										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				0.294118	28.13632	29.426221	10	24	KEEP	---	---	---	---	capture		Silent	SNP	179632585	179632585	17290	2	A	T	T	T	80	7	TTN	3	3
CWC22	57703	broad.mit.edu	37	2	180830695	180830695	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:180830695C>A	uc010frh.1	-	c.1225G>T	c.(1225-1227)GGA>TGA	p.G409*	CWC22_uc002unp.2_Nonsense_Mutation_p.G409*	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	409					nuclear mRNA splicing, via spliceosome|regulation of nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0														0.137931	6.079682	9.757091	4	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	180830695	180830695	4228	2	C	A	A	A	286	22	CWC22	5	2
PDE1A	5136	broad.mit.edu	37	2	183099181	183099181	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183099181G>A	uc002uoq.1	-	c.443C>T	c.(442-444)GCA>GTA	p.A148V	PDE1A_uc010zfp.1_Missense_Mutation_p.A44V|PDE1A_uc010zfq.1_Missense_Mutation_p.A148V|PDE1A_uc002uor.2_Missense_Mutation_p.A132V|PDE1A_uc002uos.2_Missense_Mutation_p.A148V|PDE1A_uc002uou.2_Missense_Mutation_p.A114V	NM_005019	NP_005010	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 1	148					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.061)											0.238095	23.427486	26.060465	10	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183099181	183099181	12054	2	G	A	A	A	598	46	PDE1A	2	2
STAT1	6772	broad.mit.edu	37	2	191862700	191862700	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:191862700C>T	uc002usj.2	-	c.667G>A	c.(667-669)GTC>ATC	p.V223I	STAT1_uc010fse.1_Missense_Mutation_p.V223I|STAT1_uc002usk.2_Missense_Mutation_p.V223I|STAT1_uc002usl.2_Missense_Mutation_p.V225I|STAT1_uc010fsf.1_Missense_Mutation_p.V35I	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	223					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)					350				0.155172	14.033994	20.626991	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191862700	191862700	15784	2	C	T	T	T	221	17	STAT1	2	2
HECW2	57520	broad.mit.edu	37	2	197081766	197081766	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197081766C>G	uc002utm.1	-	c.4460G>C	c.(4459-4461)AGA>ACA	p.R1487T	HECW2_uc002utl.1_Missense_Mutation_p.R1131T	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1487	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.14	24.782999	37.302082	14	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197081766	197081766	7326	2	C	G	G	G	416	32	HECW2	3	3
RFTN2	130132	broad.mit.edu	37	2	198460720	198460720	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198460720G>T	uc002uuo.3	-	c.1228C>A	c.(1228-1230)CCA>ACA	p.P410T		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	410						plasma membrane					0														0.25	9.597511	10.50312	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198460720	198460720	13731	2	G	T	T	T	572	44	RFTN2	2	2
AOX1	316	broad.mit.edu	37	2	201502993	201502994	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201502993_201502994GG>AT	uc002uvx.2	+	c.2536_2537GG>AT	c.(2536-2538)GGA>ATA	p.G846I	AOX1_uc010zhf.1_Missense_Mutation_p.G402I|AOX1_uc010fsu.2_Missense_Mutation_p.G212I	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	846					inflammatory response|oxidation-reduction process|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)	5					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)									0.142857	12.180802	19.049225	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	201502993	201502994	739	2	GG	AT	AT	AT	611	47	AOX1	2	2
CDK15	65061	broad.mit.edu	37	2	202671411	202671411	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202671411G>T	uc002uyt.2	+	c.24G>T	c.(22-24)AAG>AAT	p.K8N	CDK15_uc010ftm.2_Intron|CDK15_uc002uys.2_Intron|CDK15_uc010ftn.1_Intron|CDK15_uc010fto.1_Missense_Mutation_p.K8N	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	8					protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)					431				0.25	16.410714	18.002235	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202671411	202671411	3260	2	G	T	T	T	417	33	CDK15	2	2
LOC200726	200726	broad.mit.edu	37	2	207509173	207509173	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207509173C>A	uc010fuh.1	+	c.213C>A	c.(211-213)GGC>GGA	p.G71G		NM_001102659	NP_001096129			hypothetical protein LOC200726												0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)										0.428571	35.096026	35.220469	12	16	KEEP	---	---	---	---	capture		Silent	SNP	207509173	207509173	9212	2	C	A	A	A	353	28	LOC200726	2	2
MDH1B	130752	broad.mit.edu	37	2	207610350	207610350	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207610350T>A	uc002vbs.2	-	c.1404A>T	c.(1402-1404)CAA>CAT	p.Q468H	MDH1B_uc010ziw.1_Non-coding_Transcript|MDH1B_uc010fui.2_Missense_Mutation_p.Q468H|MDH1B_uc010fuj.2_Missense_Mutation_p.Q370H|MDH1B_uc002vbt.2_Non-coding_Transcript	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	468					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		Pancreas(76;29 1355 28675 37177 51207)								0.380952	25.29544	25.556352	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207610350	207610350	9798	2	T	A	A	A	673	52	MDH1B	3	3
CRYGA	1418	broad.mit.edu	37	2	209025587	209025587	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209025587C>A	uc002vcq.3	-	c.466G>T	c.(466-468)GAC>TAC	p.D156Y		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	156	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)										0.253521	45.539711	49.445653	18	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209025587	209025587	4053	2	C	A	A	A	403	31	CRYGA	1	1
PIKFYVE	200576	broad.mit.edu	37	2	209141439	209141439	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209141439C>G	uc002vcz.2	+	c.326C>G	c.(325-327)ACA>AGA	p.T109R	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.T109R|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.T109R|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	109					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.166667	19.670649	24.725589	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209141439	209141439	12348	2	C	G	G	G	221	17	PIKFYVE	3	3
PIKFYVE	200576	broad.mit.edu	37	2	209209900	209209900	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209209900A>T	uc002vcz.2	+	c.5093A>T	c.(5092-5094)GAA>GTA	p.E1698V		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1698					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.2	9.158698	11.254324	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209209900	209209900	12348	2	A	T	T	T	117	9	PIKFYVE	3	3
APOB	338	broad.mit.edu	37	2	21241910	21241910	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21241910C>G	uc002red.2	-	c.3075G>C	c.(3073-3075)GAG>GAC	p.E1025D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1025					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)									0.46988	119.416387	119.482022	39	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21241910	21241910	796	2	C	G	G	G	311	24	APOB	3	3
ERBB4	2066	broad.mit.edu	37	2	212537931	212537931	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212537931C>A	uc002veg.1	-	c.1674G>T	c.(1672-1674)CAG>CAT	p.Q558H	ERBB4_uc002veh.1_Missense_Mutation_p.Q558H|ERBB4_uc010zji.1_Missense_Mutation_p.Q558H|ERBB4_uc010zjj.1_Missense_Mutation_p.Q558H|ERBB4_uc010fut.1_Missense_Mutation_p.Q558H	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	558	Extracellular (Potential).|Cys-rich.				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)			0.428571	55.744566	55.931187	18	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	212537931	212537931	5402	2	C	A	A	A	259	20	ERBB4	2	2
IKZF2	22807	broad.mit.edu	37	2	213872288	213872288	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:213872288C>G	uc002vem.2	-	c.1377G>C	c.(1375-1377)AAG>AAC	p.K459N	IKZF2_uc010fuu.2_Missense_Mutation_p.K314N|IKZF2_uc002vej.2_Missense_Mutation_p.K406N|IKZF2_uc002vek.2_Non-coding_Transcript|IKZF2_uc010fuv.2_Missense_Mutation_p.K385N|IKZF2_uc002vel.2_Missense_Mutation_p.K380N|IKZF2_uc010fuw.2_Missense_Mutation_p.K233N|IKZF2_uc010fux.2_Missense_Mutation_p.K233N|IKZF2_uc010fuy.2_Missense_Mutation_p.K387N|IKZF2_uc002ven.2_Missense_Mutation_p.K433N|IKZF2_uc002vei.2_Missense_Mutation_p.K237N	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	459					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)										0.141509	20.228898	33.431108	15	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	213872288	213872288	7916	2	C	G	G	G	311	24	IKZF2	3	3
SPAG16	79582	broad.mit.edu	37	2	214215364	214215364	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:214215364G>T	uc002veq.2	+	c.757G>T	c.(757-759)GGG>TGG	p.G253W	SPAG16_uc010fuz.1_Missense_Mutation_p.G104W|SPAG16_uc002ver.2_Missense_Mutation_p.G199W|SPAG16_uc010zjk.1_Missense_Mutation_p.G159W|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.G222W	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	253	Potential.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)	1		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.296703	77.688919	81.05234	27	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214215364	214215364	15481	2	G	T	T	T	611	47	SPAG16	2	2
ABCA12	26154	broad.mit.edu	37	2	215840558	215840558	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215840558G>C	uc002vew.2	-	c.5332C>G	c.(5332-5334)CAG>GAG	p.Q1778E	ABCA12_uc002vev.2_Missense_Mutation_p.Q1460E|ABCA12_uc010zjn.1_Missense_Mutation_p.Q705E	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1778					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		Ovarian(66;664 1488 5121 34295)								0.174419	33.471441	42.07336	15	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215840558	215840558	31	2	G	C	C	C	585	45	ABCA12	3	3
IGFBP2	3485	broad.mit.edu	37	2	217526667	217526667	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217526667C>A	uc010zjt.1	+	c.738C>A	c.(736-738)CTC>CTA	p.L246L	IGFBP2_uc010zju.1_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	253	Thyroglobulin type-1.				regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway		insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)										0.27027	23.231428	24.994752	10	27	KEEP	---	---	---	---	capture		Silent	SNP	217526667	217526667	7880	2	C	A	A	A	405	32	IGFBP2	2	2
IGFBP5	3488	broad.mit.edu	37	2	217542840	217542840	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217542840T>G	uc002vgj.3	-	c.682A>C	c.(682-684)AAG>CAG	p.K228Q		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	228	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction	insulin-like growth factor binding protein complex	insulin-like growth factor I binding				0		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)						26				0.290909	47.280193	49.432851	16	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	217542840	217542840	7883	2	T	G	G	G	832	64	IGFBP5	4	4
TNS1	7145	broad.mit.edu	37	2	218755749	218755749	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218755749G>A	uc002vgt.2	-	c.427C>T	c.(427-429)CGG>TGG	p.R143W	TNS1_uc002vgr.2_Missense_Mutation_p.R143W|TNS1_uc002vgs.2_Missense_Mutation_p.R143W|TNS1_uc010zjv.1_Missense_Mutation_p.R143W|TNS1_uc010fvj.1_Missense_Mutation_p.R211W|TNS1_uc010fvk.1_Missense_Mutation_p.R268W|TNS1_uc002vgu.3_Missense_Mutation_p.R174W	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	143	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)										0.170213	16.972074	21.806471	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218755749	218755749	16884	2	G	A	A	A	506	39	TNS1	1	1
CCDC108	255101	broad.mit.edu	37	2	219886503	219886503	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219886503G>T	uc002vjl.1	-	c.3129C>A	c.(3127-3129)CTC>CTA	p.L1043L	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1043						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)										0.157895	6.113975	8.233169	3	16	KEEP	---	---	---	---	capture		Silent	SNP	219886503	219886503	2863	2	G	T	T	T	470	37	CCDC108	1	1
PTPRN	5798	broad.mit.edu	37	2	220162805	220162805	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220162805G>A	uc002vkz.2	-	c.1689C>T	c.(1687-1689)GTC>GTT	p.V563V	PTPRN_uc010zlc.1_Silent_p.V473V|PTPRN_uc002vla.2_Silent_p.V534V	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	563	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)										0.283582	47.396587	50.215923	19	48	KEEP	---	---	---	---	capture		Silent	SNP	220162805	220162805	13264	2	G	A	A	A	522	41	PTPRN	2	2
SPEG	10290	broad.mit.edu	37	2	220336962	220336962	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220336962C>A	uc010fwg.2	+	c.3849C>A	c.(3847-3849)GGC>GGA	p.G1283G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1283	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.363636	10.798761	10.977947	4	7	KEEP	---	---	---	---	capture		Silent	SNP	220336962	220336962	15548	2	C	A	A	A	327	26	SPEG	2	2
SERPINE2	5270	broad.mit.edu	37	2	224847442	224847442	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:224847442G>T	uc010zlr.1	-	c.977C>A	c.(976-978)ACT>AAT	p.T326N	SERPINE2_uc002vnt.2_Missense_Mutation_p.T314N|SERPINE2_uc002vnu.2_Missense_Mutation_p.T314N|SERPINE2_uc002vnv.2_Missense_Mutation_p.T314N	NM_001136530	NP_001130002	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	314					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)										0.25	13.365449	14.501573	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	224847442	224847442	14600	2	G	T	T	T	468	36	SERPINE2	2	2
DOCK10	55619	broad.mit.edu	37	2	225659773	225659773	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225659773C>G	uc010fwz.1	-	c.4977G>C	c.(4975-4977)AAG>AAC	p.K1659N	DOCK10_uc002vob.2_Missense_Mutation_p.K1653N|DOCK10_uc002voa.2_Missense_Mutation_p.K315N|DOCK10_uc002voc.2_Missense_Mutation_p.K513N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1659	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.409091	86.911858	87.388705	27	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	225659773	225659773	4869	2	C	G	G	G	363	28	DOCK10	3	3
COL4A3	1285	broad.mit.edu	37	2	228118863	228118863	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228118863G>T	uc002vom.1	+	c.801G>T	c.(799-801)ATG>ATT	p.M267I	COL4A3_uc002von.1_Missense_Mutation_p.M267I|COL4A3_uc002voo.1_Missense_Mutation_p.M267I|COL4A3_uc002vop.1_Missense_Mutation_p.M267I	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	267	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)										0.5	49.261499	49.261499	17	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228118863	228118863	3829	2	G	T	T	T	611	47	COL4A3	2	2
SP100	6672	broad.mit.edu	37	2	231359138	231359138	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231359138G>C	uc002vqu.1	+	c.1608G>C	c.(1606-1608)AAG>AAC	p.K536N	SP100_uc002vqs.2_Missense_Mutation_p.K536N|SP100_uc002vqt.2_Missense_Mutation_p.K536N	NM_001080391	NP_001073860	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 1	536	Nuclear localization signal (Potential).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon|retinoic acid receptor signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|general transcriptional repressor activity|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)										0.214286	15.134648	17.245229	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231359138	231359138	15460	2	G	C	C	C	425	33	SP100	3	3
GPR55	9290	broad.mit.edu	37	2	231774928	231774928	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231774928G>C	uc002vrg.2	-	c.750C>G	c.(748-750)TTC>TTG	p.F250L	GPR55_uc002vrf.2_Non-coding_Transcript|GPR55_uc010fxs.1_Missense_Mutation_p.F250L	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	250	Helical; Name=6; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)										0.1875	13.831319	16.757658	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231774928	231774928	6974	2	G	C	C	C	529	41	GPR55	3	3
TRPM8	79054	broad.mit.edu	37	2	234891745	234891745	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234891745G>T	uc002vvh.2	+	c.2638G>T	c.(2638-2640)GCC>TCC	p.A880S	TRPM8_uc010fyj.2_Missense_Mutation_p.A458S|TRPM8_uc010fyk.2_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	880	Extracellular (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)					505				0.412214	155.786975	156.650326	54	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234891745	234891745	17143	2	G	T	T	T	546	42	TRPM8	2	2
COL6A3	1293	broad.mit.edu	37	2	238274404	238274404	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238274404G>A	uc002vwl.2	-	c.5775C>T	c.(5773-5775)CTC>CTT	p.L1925L	COL6A3_uc002vwo.2_Silent_p.L1719L|COL6A3_uc010znj.1_Silent_p.L1318L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1925	VWFA 10.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.446154	85.964669	86.129015	29	36	KEEP	---	---	---	---	capture		Silent	SNP	238274404	238274404	3839	2	G	A	A	A	574	45	COL6A3	2	2
COL6A3	1293	broad.mit.edu	37	2	238283634	238283634	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238283634G>A	uc002vwl.2	-	c.3100C>T	c.(3100-3102)CTT>TTT	p.L1034F	COL6A3_uc002vwo.2_Missense_Mutation_p.L828F|COL6A3_uc010znj.1_Missense_Mutation_p.L427F|COL6A3_uc002vwq.2_Missense_Mutation_p.L828F|COL6A3_uc002vwr.2_Missense_Mutation_p.L627F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1034	Nonhelical region.|VWFA 6.				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)										0.131579	7.046321	12.062066	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238283634	238283634	3839	2	G	A	A	A	442	34	COL6A3	2	2
C2orf85	285093	broad.mit.edu	37	2	242814614	242814614	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242814614G>T	uc010fzu.1	+	c.907G>T	c.(907-909)GCC>TCC	p.A303S		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	303						integral to membrane				ovary(1)	1														0.666667	31.753645	32.122208	10	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242814614	242814614	2292	2	G	T	T	T	546	42	C2orf85	2	2
GPR113	165082	broad.mit.edu	37	2	26534166	26534166	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26534166G>T	uc002rhe.3	-	c.2430C>A	c.(2428-2430)GCC>GCA	p.A810A	GPR113_uc010yky.1_Silent_p.A741A|GPR113_uc002rhb.1_Silent_p.A413A|GPR113_uc010eyk.1_Silent_p.A611A|GPR113_uc002rhc.1_Silent_p.A413A|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	810	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A611A(1)		ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.818182	61.0644	63.169468	18	4	KEEP	---	---	---	---	capture		Silent	SNP	26534166	26534166	6904	2	G	T	T	T	496	39	GPR113	1	1
EIF2B4	8890	broad.mit.edu	37	2	27591875	27591875	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27591875G>A	uc002rjz.2	-	c.476C>T	c.(475-477)TCA>TTA	p.S159L	EIF2B4_uc002rka.2_Missense_Mutation_p.S124L|EIF2B4_uc002rkb.2_Missense_Mutation_p.S139L|EIF2B4_uc002rkc.2_Missense_Mutation_p.S138L|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.S108L|EIF2B4_uc002rkf.1_Missense_Mutation_p.S108L|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	139					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.18	18.544277	23.359811	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27591875	27591875	5192	2	G	A	A	A	585	45	EIF2B4	2	2
FNDC4	64838	broad.mit.edu	37	2	27716859	27716859	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27716859G>C	uc002rkx.2	-	c.392C>G	c.(391-393)CCC>CGC	p.P131R	GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	131	Extracellular (Potential).|Fibronectin type-III.					integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)													0.225806	14.707879	16.84953	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27716859	27716859	6213	2	G	C	C	C	559	43	FNDC4	3	3
CEBPZ	10153	broad.mit.edu	37	2	37455779	37455779	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37455779A>G	uc002rpz.2	-	c.557T>C	c.(556-558)CTG>CCG	p.L186P	C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	186					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)												0.203125	30.242451	35.477979	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37455779	37455779	3337	2	A	G	G	G	91	7	CEBPZ	4	4
PRKD3	23683	broad.mit.edu	37	2	37496827	37496827	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37496827T>C	uc002rqd.2	-	c.1708A>G	c.(1708-1710)ATC>GTC	p.I570V	PRKD3_uc002rqe.1_Missense_Mutation_p.I170V|PRKD3_uc002rqf.1_Missense_Mutation_p.I570V	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	570					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|protein phosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				Melanoma(80;621 1355 8613 11814 51767)				569				0.796296	161.667517	166.096946	43	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37496827	37496827	12963	2	T	C	C	C	637	49	PRKD3	4	4
SOS1	6654	broad.mit.edu	37	2	39222289	39222290	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39222289_39222290GG>AT	uc002rrk.3	-	c.3320_3321CC>AT	c.(3319-3321)TCC>TAT	p.S1107Y	SOS1_uc002rrj.3_Missense_Mutation_p.S721Y	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1107					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|lung(1)|central_nervous_system(1)	6		all_hematologic(82;0.21)								444				0.666667	80.512552	81.399452	24	12	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	39222289	39222290	15436	2	GG	AT	AT	AT	496	39	SOS1	1	1
NRXN1	9378	broad.mit.edu	37	2	51254928	51254928	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:51254928G>T	uc010fbq.2	-	c.484C>A	c.(484-486)CTG>ATG	p.L162M	NRXN1_uc002rxe.3_Missense_Mutation_p.L162M|NRXN1_uc002rxd.1_Missense_Mutation_p.L162M	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	212	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.25	7.218781	7.900892	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51254928	51254928	11070	2	G	T	T	T	464	36	NRXN1	2	2
VRK2	7444	broad.mit.edu	37	2	58276044	58276044	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:58276044C>A	uc002rzo.2	+	c.78C>A	c.(76-78)GGC>GGA	p.G26G	VRK2_uc010fcb.2_Silent_p.G26G|VRK2_uc002rzs.2_Silent_p.G26G|VRK2_uc002rzr.2_Silent_p.G26G|VRK2_uc010fcc.2_5'UTR|VRK2_uc002rzv.2_Silent_p.G26G|VRK2_uc010fcd.2_Silent_p.G3G|VRK2_uc002rzp.2_Silent_p.G26G|VRK2_uc010ypg.1_Silent_p.G26G|VRK2_uc002rzq.2_Silent_p.G26G|VRK2_uc002rzu.2_Silent_p.G26G|VRK2_uc002rzt.2_5'UTR	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	26					protein phosphorylation	integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1										181				0.380952	23.994864	24.255967	8	13	KEEP	---	---	---	---	capture		Silent	SNP	58276044	58276044	17787	2	C	A	A	A	314	25	VRK2	2	2
REL	5966	broad.mit.edu	37	2	61128171	61128171	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61128171A>T	uc002sam.1	+	c.347A>T	c.(346-348)AAA>ATA	p.K116I	REL_uc002san.1_Missense_Mutation_p.K116I	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	116	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)							156				0.2	5.809003	7.597635	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61128171	61128171	13684	2	A	T	T	T	13	1	REL	3	3
USP34	9736	broad.mit.edu	37	2	61575121	61575121	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61575121G>C	uc002sbe.2	-	c.2169C>G	c.(2167-2169)ATC>ATG	p.I723M		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	723					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9			Epithelial(17;0.229)											0.442105	141.13225	141.41037	42	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61575121	61575121	17629	2	G	C	C	C	577	45	USP34	3	3
AAK1	22848	broad.mit.edu	37	2	69771620	69771620	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69771620G>C	uc002sfp.2	-	c.339C>G	c.(337-339)AAC>AAG	p.N113K	AAK1_uc010fdk.2_Missense_Mutation_p.N113K|AAK1_uc010yqm.1_Missense_Mutation_p.N113K|AAK1_uc010fdm.1_Missense_Mutation_p.N113K	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	113	Protein kinase.				protein phosphorylation	coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0										752				0.75641	219.26194	223.938052	59	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69771620	69771620	17	2	G	C	C	C	516	40	AAK1	3	3
PAIP2B	400961	broad.mit.edu	37	2	71415647	71415647	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71415647G>T	uc002shu.2	-	c.334C>A	c.(334-336)CCA>ACA	p.P112T		NM_020459	NP_065192	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	112					negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity, nucleic acid binding				0														0.5	37.999435	37.999435	12	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71415647	71415647	11814	2	G	T	T	T	559	43	PAIP2B	2	2
DYSF	8291	broad.mit.edu	37	2	71781014	71781014	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71781014C>A	uc010fen.2	+	c.2062C>A	c.(2062-2064)CAT>AAT	p.H688N	DYSF_uc010feg.2_Missense_Mutation_p.H701N|DYSF_uc010feh.2_Missense_Mutation_p.H656N|DYSF_uc002sig.3_Missense_Mutation_p.H656N|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Missense_Mutation_p.H670N|DYSF_uc010fef.2_Missense_Mutation_p.H687N|DYSF_uc002sie.2_Missense_Mutation_p.H670N|DYSF_uc010fei.2_Missense_Mutation_p.H687N|DYSF_uc010fek.2_Missense_Mutation_p.H688N|DYSF_uc010fej.2_Missense_Mutation_p.H657N|DYSF_uc010fel.2_Missense_Mutation_p.H657N|DYSF_uc010feo.2_Missense_Mutation_p.H702N|DYSF_uc010fem.2_Missense_Mutation_p.H671N|DYSF_uc002sif.2_Missense_Mutation_p.H671N	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	670	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.75	62.761926	64.125769	18	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71781014	71781014	5045	2	C	A	A	A	273	21	DYSF	2	2
ALMS1	7840	broad.mit.edu	37	2	73799765	73799765	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73799765C>T	uc002sje.1	+	c.10764C>T	c.(10762-10764)ACC>ACT	p.T3588T	ALMS1_uc002sjf.1_Silent_p.T3544T|ALMS1_uc002sjg.2_Silent_p.T2974T|ALMS1_uc002sjh.1_Silent_p.T2974T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3586					G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.493976	136.77854	136.781057	41	42	KEEP	---	---	---	---	capture		Silent	SNP	73799765	73799765	538	2	C	T	T	T	275	22	ALMS1	2	2
RETSAT	54884	broad.mit.edu	37	2	85570899	85570899	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85570899G>A	uc002spd.2	-	c.1556C>T	c.(1555-1557)TCC>TTC	p.S519F	RETSAT_uc010fge.2_Non-coding_Transcript|RETSAT_uc010ysm.1_Missense_Mutation_p.S458F|RETSAT_uc010fgf.2_Missense_Mutation_p.S310F	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	519					oxidation-reduction process|retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(1)	1					Vitamin A(DB00162)									0.166667	5.820283	7.711257	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85570899	85570899	13708	2	G	A	A	A	533	41	RETSAT	2	2
CD8A	925	broad.mit.edu	37	2	87013080	87013080	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:87013080G>T	uc010ytn.1	-	c.794C>A	c.(793-795)TCG>TAG	p.S265*	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Nonsense_Mutation_p.S224*|CD8A_uc002srt.2_Nonsense_Mutation_p.S224*|CD8A_uc002sru.2_Nonsense_Mutation_p.S187*	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	224	Cytoplasmic (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1														0.258824	53.737626	58.200111	22	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	87013080	87013080	3172	2	G	T	T	T	481	37	CD8A	5	1
SNRNP200	23020	broad.mit.edu	37	2	96967309	96967309	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96967309C>G	uc002svu.2	-	c.527G>C	c.(526-528)GGC>GCC	p.G176A		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	176					cis assembly of pre-catalytic spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|large_intestine(1)|skin(1)	7														0.153409	51.707195	71.852801	27	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96967309	96967309	15352	2	C	G	G	G	338	26	SNRNP200	3	3
CNGA3	1261	broad.mit.edu	37	2	99012830	99012830	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99012830G>T	uc002syt.2	+	c.1197G>T	c.(1195-1197)GTG>GTT	p.V399V	CNGA3_uc002syu.2_Silent_p.V381V|CNGA3_uc010fij.2_Silent_p.V403V	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	399					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.333333	58.080151	59.556113	20	40	KEEP	---	---	---	---	capture		Silent	SNP	99012830	99012830	3736	2	G	T	T	T	600	47	CNGA3	2	2
LNP1	348801	broad.mit.edu	37	3	100148663	100148663	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100148663G>C	uc003dtx.3	+	c.90G>C	c.(88-90)CAG>CAC	p.Q30H	LNP1_uc003dty.3_Non-coding_Transcript|LNP1_uc011bhb.1_Non-coding_Transcript	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	30											0														0.100719	13.574243	35.66959	14	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100148663	100148663	9192	3	G	C	C	C	425	33	LNP1	3	3
SENP7	57337	broad.mit.edu	37	3	101046534	101046534	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101046534C>A	uc003dut.2	-	c.2991G>T	c.(2989-2991)TTG>TTT	p.L997F	SENP7_uc003duu.2_Missense_Mutation_p.L932F|SENP7_uc003duv.2_Missense_Mutation_p.L964F|SENP7_uc003duw.2_Missense_Mutation_p.L931F|SENP7_uc003dux.2_Missense_Mutation_p.L833F|SENP7_uc003dus.2_Missense_Mutation_p.L185F	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	997	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(2)|lung(1)	3														0.25	22.85678	24.902712	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101046534	101046534	14537	3	C	A	A	A	324	25	SENP7	2	2
BBX	56987	broad.mit.edu	37	3	107491621	107491621	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:107491621G>A	uc010hpr.2	+	c.1053G>A	c.(1051-1053)CAG>CAA	p.Q351Q	BBX_uc003dwk.3_Silent_p.Q351Q|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.Q372Q|BBX_uc003dwm.3_Silent_p.Q351Q|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	351	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(3;0.112)											0.133333	38.466963	61.963234	24	156	KEEP	---	---	---	---	capture		Silent	SNP	107491621	107491621	1364	3	G	A	A	A	425	33	BBX	2	2
GUCA1C	9626	broad.mit.edu	37	3	108627009	108627009	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108627009C>A	uc003dxj.2	-	c.490G>T	c.(490-492)GAT>TAT	p.D164Y	GUCA1C_uc003dxk.2_Missense_Mutation_p.G177V	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	164	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						NSCLC(157;1360 1999 30631 40189 44208)								0.178082	25.338004	32.455413	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108627009	108627009	7170	3	C	A	A	A	390	30	GUCA1C	2	2
SLC9A10	285335	broad.mit.edu	37	3	111888063	111888063	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111888063C>G	uc003dyu.2	-	c.3032G>C	c.(3031-3033)AGA>ACA	p.R1011T	SLC9A10_uc011bhu.1_Missense_Mutation_p.R274T|SLC9A10_uc010hqc.2_Missense_Mutation_p.R963T	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	1011					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5														0.090909	3.465114	10.888234	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111888063	111888063	15207	3	C	G	G	G	416	32	SLC9A10	3	3
SLC9A10	285335	broad.mit.edu	37	3	111927182	111927182	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111927182G>T	uc003dyu.2	-	c.1829C>A	c.(1828-1830)ACT>AAT	p.T610N	SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.T562N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	610	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5														0.258621	42.599705	45.659809	15	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111927182	111927182	15207	3	G	T	T	T	468	36	SLC9A10	2	2
BOC	91653	broad.mit.edu	37	3	112987219	112987219	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112987219C>A	uc003dzz.2	+	c.450C>A	c.(448-450)TGC>TGA	p.C150*	BOC_uc003dzx.2_Nonsense_Mutation_p.C150*|BOC_uc010hqi.2_Nonsense_Mutation_p.C150*|BOC_uc003dzy.2_Nonsense_Mutation_p.C150*|BOC_uc003eab.2_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	150	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)											0.322581	27.641435	28.506677	10	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	112987219	112987219	1506	3	C	A	A	A	337	26	BOC	5	2
BOC	91653	broad.mit.edu	37	3	112998277	112998277	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112998277C>G	uc003dzz.2	+	c.1998C>G	c.(1996-1998)TCC>TCG	p.S666S	BOC_uc003dzx.2_Silent_p.S665S|BOC_uc003dzy.2_Silent_p.S665S|BOC_uc003eab.2_Silent_p.S366S|BOC_uc003eac.2_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	665	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)											0.235294	10.893731	11.981364	4	13	KEEP	---	---	---	---	capture		Silent	SNP	112998277	112998277	1506	3	C	G	G	G	288	23	BOC	3	3
KIAA2018	205717	broad.mit.edu	37	3	113374495	113374495	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113374495G>A	uc003eam.2	-	c.6034C>T	c.(6034-6036)CCC>TCC	p.P2012S	KIAA2018_uc003eal.2_Missense_Mutation_p.P1956S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	2012						membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.25	17.910741	19.501998	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113374495	113374495	8579	3	G	A	A	A	533	41	KIAA2018	2	2
SEMA5B	54437	broad.mit.edu	37	3	122629027	122629027	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122629027T>A	uc003efz.1	-	c.3419A>T	c.(3418-3420)GAG>GTG	p.E1140V	SEMA5B_uc011bju.1_Missense_Mutation_p.E1046V|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003efy.1_Missense_Mutation_p.E118V	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1140	Cytoplasmic (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.342105	36.462723	37.300135	13	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122629027	122629027	14524	3	T	A	A	A	702	54	SEMA5B	3	3
PPARG	5468	broad.mit.edu	37	3	12458213	12458213	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12458213T>A	uc003bwx.2	+	c.830T>A	c.(829-831)ATC>AAC	p.I277N	PPARG_uc003bwr.2_Missense_Mutation_p.I249N|PPARG_uc003bws.2_Missense_Mutation_p.I249N|PPARG_uc003bwu.2_Missense_Mutation_p.I249N|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	277	Interaction with FAM120B (By similarity).				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				0.266667	10.493329	11.230938	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12458213	12458213	12729	3	T	A	A	A	650	50	PPARG	3	3
PLXNA1	5361	broad.mit.edu	37	3	126708091	126708091	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126708091G>T	uc003ejg.2	+	c.586G>T	c.(586-588)GTG>TTG	p.V196L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	219	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(114;0.155)										0.185185	11.662699	14.168561	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126708091	126708091	12545	3	G	T	T	T	520	40	PLXNA1	1	1
ABTB1	80325	broad.mit.edu	37	3	127393268	127393268	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:127393268G>T	uc003ejt.2	+	c.91G>T	c.(91-93)GTG>TTG	p.V31L	ABTB1_uc003ejr.2_Intron|ABTB1_uc003ejs.2_Intron|ABTB1_uc003eju.2_Intron|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	31	ANK 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0														0.277778	13.467226	14.267022	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127393268	127393268	103	3	G	T	T	T	624	48	ABTB1	2	2
GATA2	2624	broad.mit.edu	37	3	128200720	128200720	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128200720C>T	uc003ekm.3	-	c.1085G>A	c.(1084-1086)CGA>CAA	p.R362Q	GATA2_uc003ekn.3_Missense_Mutation_p.R348Q|GATA2_uc003eko.2_Missense_Mutation_p.R362Q	NM_001145661	NP_001139133	P23769	GATA2_HUMAN	GATA binding protein 2 isoform 1	362	GATA-type 2.				blood coagulation|phagocytosis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of phagocytosis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity|zinc ion binding	p.R362Q(2)		haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15				GBM - Glioblastoma multiforme(114;0.173)						134				0.6	38.003269	38.178442	12	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128200720	128200720	6518	3	C	T	T	T	403	31	GATA2	1	1
TMCC1	23023	broad.mit.edu	37	3	129389737	129389737	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129389737C>A	uc003emz.3	-	c.947G>T	c.(946-948)CGG>CTG	p.R316L	TMCC1_uc003emy.3_5'UTR|TMCC1_uc011blc.1_Missense_Mutation_p.R137L|TMCC1_uc010htg.2_Missense_Mutation_p.R202L	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	316						integral to membrane					0														0.202128	45.194001	52.9258	19	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129389737	129389737	16522	3	C	A	A	A	299	23	TMCC1	1	1
COL6A6	131873	broad.mit.edu	37	3	130318619	130318619	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130318619G>T	uc010htl.2	+	c.4618G>T	c.(4618-4620)GGC>TGC	p.G1540C	COL6A6_uc003eni.3_De_novo_Start_OutOfFrame	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1540	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.363636	20.684492	21.047983	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130318619	130318619	3841	3	G	T	T	T	455	35	COL6A6	2	2
EPHB1	2047	broad.mit.edu	37	3	134911538	134911538	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134911538A>C	uc003eqt.2	+	c.2003A>C	c.(2002-2004)GAG>GCG	p.E668A	EPHB1_uc003equ.2_Missense_Mutation_p.E229A	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	668	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.135802	13.469924	23.880597	11	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134911538	134911538	5367	3	A	C	C	C	143	11	EPHB1	4	4
FAIM	55179	broad.mit.edu	37	3	138340324	138340324	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138340324G>C	uc003esp.2	+	c.156G>C	c.(154-156)AAG>AAC	p.K52N	FAIM_uc003eso.1_Missense_Mutation_p.K52N|FAIM_uc003esq.2_Missense_Mutation_p.K40N|FAIM_uc003esr.2_Missense_Mutation_p.K18N|FAIM_uc003ess.2_Missense_Mutation_p.K18N	NM_001033030	NP_001028202	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule isoform a	18					apoptosis	cytoplasm					0														0.180328	24.587568	30.45399	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138340324	138340324	5572	3	G	C	C	C	425	33	FAIM	3	3
TRIM42	287015	broad.mit.edu	37	3	140407130	140407130	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140407130A>C	uc003eto.1	+	c.1606A>C	c.(1606-1608)AGC>CGC	p.S536R		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	536						intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.173228	43.98412	56.781197	22	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140407130	140407130	17061	3	A	C	C	C	39	3	TRIM42	4	4
ATR	545	broad.mit.edu	37	3	142168294	142168294	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142168294G>A	uc003eux.3	-	c.7912C>T	c.(7912-7914)CTT>TTT	p.L2638F	XRN1_uc003eus.2_5'Flank|XRN1_uc003eut.2_5'Flank|XRN1_uc003euu.2_5'Flank|XRN1_uc003euw.2_5'Flank|XRN1_uc011bnh.1_5'Flank|ATR_uc003euy.1_3'UTR	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2638	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.2	41.724459	48.840312	17	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142168294	142168294	1223	3	G	A	A	A	429	33	ATR	2	2
PCOLCE2	26577	broad.mit.edu	37	3	142567202	142567202	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142567202C>A	uc003evd.2	-	c.305G>T	c.(304-306)CGC>CTC	p.R102L		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	102	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)	2														0.630137	146.779312	147.876139	46	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142567202	142567202	12015	3	C	A	A	A	351	27	PCOLCE2	1	1
PLSCR4	57088	broad.mit.edu	37	3	145918866	145918866	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145918866T>A	uc010huy.2	-	c.355_splice	c.e5-1	p.L119_splice	PLSCR4_uc010huz.2_Splice_Site_SNP_p.L119_splice|PLSCR4_uc003evt.3_Splice_Site_SNP_p.L119_splice|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777			phospholipid scramblase 4 isoform a						blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0														0.123288	14.122689	24.257818	9	64	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	145918866	145918866	12538	3	T	A	A	A	715	55	PLSCR4	5	3
ZIC4	84107	broad.mit.edu	37	3	147113743	147113743	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147113743A>T	uc011bno.1	-	c.734T>A	c.(733-735)ATC>AAC	p.I245N	ZIC4_uc003ewc.1_Missense_Mutation_p.I125N|ZIC4_uc003ewd.1_Missense_Mutation_p.I195N	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	195	C2H2-type 2; atypical.					nucleus	DNA binding|zinc ion binding				0														0.64	340.018407	343.041998	112	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147113743	147113743	18272	3	A	T	T	T	156	12	ZIC4	3	3
MED12L	116931	broad.mit.edu	37	3	151093991	151093991	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151093991C>A	uc003eyp.2	+	c.3937C>A	c.(3937-3939)CGT>AGT	p.R1313S	MED12L_uc011bnz.1_Missense_Mutation_p.R1173S|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.R476S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1313					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.057143	-5.612922	8.756388	4	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151093991	151093991	9818	3	C	A	A	A	351	27	MED12L	1	1
MED12L	116931	broad.mit.edu	37	3	151097983	151097983	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151097983C>G	uc003eyp.2	+	c.4456C>G	c.(4456-4458)CTA>GTA	p.L1486V	MED12L_uc011bnz.1_Missense_Mutation_p.L1346V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.L649V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1486					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.678899	250.659442	253.749198	74	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151097983	151097983	9818	3	C	G	G	G	311	24	MED12L	3	3
C3orf79	152118	broad.mit.edu	37	3	153203855	153203855	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:153203855C>A	uc003ezt.2	+	c.184C>A	c.(184-186)CTT>ATT	p.L62I		NM_001101337	NP_001094807	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	62											0														0.444444	22.896459	22.945021	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153203855	153203855	2341	3	C	A	A	A	416	32	C3orf79	2	2
PPM1L	151742	broad.mit.edu	37	3	160786769	160786769	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160786769G>T	uc003fdr.2	+	c.907G>T	c.(907-909)GGT>TGT	p.G303C	PPM1L_uc003fds.2_Missense_Mutation_p.G124C|PPM1L_uc003fdt.2_Missense_Mutation_p.G176C|PPM1L_uc010hwf.2_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	303	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)								0.112903	15.054811	33.403199	14	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160786769	160786769	12779	3	G	T	T	T	611	47	PPM1L	2	2
SI	6476	broad.mit.edu	37	3	164709182	164709182	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164709182G>A	uc003fei.2	-	c.5067C>T	c.(5065-5067)CAC>CAT	p.H1689H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1689	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)									0.752066	289.666261	296.653801	91	30	KEEP	---	---	---	---	capture		Silent	SNP	164709182	164709182	14792	3	G	A	A	A	620	48	SI	2	2
SI	6476	broad.mit.edu	37	3	164712060	164712060	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164712060C>A	uc003fei.2	-	c.4826G>T	c.(4825-4827)CGA>CTA	p.R1609L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1609	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)									0.712644	203.383577	206.915093	62	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164712060	164712060	14792	3	C	A	A	A	403	31	SI	1	1
WDR49	151790	broad.mit.edu	37	3	167322121	167322121	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167322121G>C	uc003fev.1	-	c.71C>G	c.(70-72)GCT>GGT	p.A24G	WDR49_uc011bpd.1_Missense_Mutation_p.A77G|WDR49_uc003few.1_Missense_Mutation_p.A365G	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	24	WD 1.									large_intestine(1)|ovary(1)	2														0.0625	-4.428582	14.719399	6	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167322121	167322121	17875	3	G	C	C	C	442	34	WDR49	3	3
LRRIQ4	344657	broad.mit.edu	37	3	169540006	169540006	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:169540006G>A	uc003fgb.2	+	c.297G>A	c.(295-297)CTG>CTA	p.L99L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	99	LRR 4.										0														0.672269	262.331668	265.464005	80	39	KEEP	---	---	---	---	capture		Silent	SNP	169540006	169540006	9407	3	G	A	A	A	600	47	LRRIQ4	2	2
PRKCI	5584	broad.mit.edu	37	3	170002268	170002268	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170002268A>T	uc003fgs.2	+	c.1087A>T	c.(1087-1089)AGT>TGT	p.S363C		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	363	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein phosphorylation|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)							551				0.725806	158.605213	161.458051	45	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170002268	170002268	12957	3	A	T	T	T	91	7	PRKCI	3	3
SLC7A14	57709	broad.mit.edu	37	3	170198536	170198536	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170198536C>T	uc003fgz.2	-	c.1535G>A	c.(1534-1536)GGC>GAC	p.G512D	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	512						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.129167	38.767003	70.908602	31	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170198536	170198536	15193	3	C	T	T	T	338	26	SLC7A14	2	2
ECT2	1894	broad.mit.edu	37	3	172480315	172480315	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172480315G>C	uc003fil.1	+	c.868G>C	c.(868-870)GAA>CAA	p.E290Q	ECT2_uc010hwv.1_Missense_Mutation_p.E290Q|ECT2_uc003fih.2_Missense_Mutation_p.E258Q|ECT2_uc003fii.2_Missense_Mutation_p.E259Q|ECT2_uc003fij.1_Missense_Mutation_p.E259Q|ECT2_uc003fik.1_Missense_Mutation_p.E259Q	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	259	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(1)|breast(1)|skin(1)	3	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)											0.172414	24.213144	30.093027	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172480315	172480315	5088	3	G	C	C	C	533	41	ECT2	3	3
TBC1D5	9779	broad.mit.edu	37	3	17255725	17255725	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17255725T>A	uc010hev.2	-	c.1792A>T	c.(1792-1794)AGC>TGC	p.S598C	TBC1D5_uc010heu.2_Missense_Mutation_p.S163C|TBC1D5_uc003cbf.2_Missense_Mutation_p.S576C|TBC1D5_uc003cbe.2_Missense_Mutation_p.S576C|TBC1D5_uc010hew.1_Missense_Mutation_p.S550C	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform a	576						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1														0.315789	17.743131	18.316601	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17255725	17255725	16149	3	T	A	A	A	715	55	TBC1D5	3	3
MCF2L2	23101	broad.mit.edu	37	3	182948805	182948805	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182948805C>A	uc003fli.1	-	c.1863G>T	c.(1861-1863)AGG>AGT	p.R621S	MCF2L2_uc003flj.1_Missense_Mutation_p.R621S|MCF2L2_uc011bqr.1_Non-coding_Transcript	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	621	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(1)|breast(1)	4	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)											0.173913	22.058296	28.985182	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182948805	182948805	9769	3	C	A	A	A	337	26	MCF2L2	2	2
ABCC5	10057	broad.mit.edu	37	3	183665123	183665123	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183665123A>G	uc003fmg.2	-	c.3403T>C	c.(3403-3405)TAT>CAT	p.Y1135H	ABCC5_uc011bqt.1_Missense_Mutation_p.Y663H|ABCC5_uc010hxl.2_Missense_Mutation_p.Y1092H	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1135	ABC transmembrane type-1 2.|Helical; (Potential).					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.708333	62.085747	63.019829	17	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183665123	183665123	57	3	A	G	G	G	169	13	ABCC5	4	4
IGF2BP2	10644	broad.mit.edu	37	3	185404893	185404893	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:185404893C>A	uc003fpq.2	-	c.779G>T	c.(778-780)TGC>TTC	p.C260F	IGF2BP2_uc010hyi.2_Missense_Mutation_p.C198F|IGF2BP2_uc010hyj.2_Missense_Mutation_p.C192F|IGF2BP2_uc010hyk.2_Missense_Mutation_p.C119F|IGF2BP2_uc010hyl.2_Missense_Mutation_p.C192F|IGF2BP2_uc003fpo.2_Missense_Mutation_p.C255F|IGF2BP2_uc003fpp.2_Missense_Mutation_p.C255F	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	255	KH 1.				anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)											0.171975	52.207246	68.203895	27	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185404893	185404893	7875	3	C	A	A	A	325	25	IGF2BP2	2	2
TP63	8626	broad.mit.edu	37	3	189585695	189585695	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:189585695G>T	uc003fry.2	+	c.956G>T	c.(955-957)CGT>CTT	p.R319L	TP63_uc003frx.2_Missense_Mutation_p.R319L|TP63_uc003frz.2_Missense_Mutation_p.R319L|TP63_uc010hzc.1_Missense_Mutation_p.R319L|TP63_uc003fsa.2_Missense_Mutation_p.R225L|TP63_uc003fsb.2_Missense_Mutation_p.R225L|TP63_uc003fsc.2_Missense_Mutation_p.R225L|TP63_uc003fsd.2_Missense_Mutation_p.R225L|TP63_uc010hzd.1_Missense_Mutation_p.R140L|TP63_uc003fse.1_Missense_Mutation_p.R200L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	319			R -> S (in EEC3).|R -> H (in EEC3 and SHFM4).|R -> C (in EEC3).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			lung(4)|ovary(2)|skin(2)	8	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)						423				0.282051	32.118032	33.77662	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189585695	189585695	16936	3	G	T	T	T	520	40	TP63	1	1
FGF12	2257	broad.mit.edu	37	3	192053158	192053158	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:192053158A>G	uc003fsx.2	-	c.406T>C	c.(406-408)TAC>CAC	p.Y136H	FGF12_uc003fsy.2_Missense_Mutation_p.Y74H	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	136					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|pancreas(1)	2	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)										0.070588	-2.627433	13.589728	6	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192053158	192053158	6078	3	A	G	G	G	195	15	FGF12	4	4
SENP5	205564	broad.mit.edu	37	3	196613016	196613016	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196613016C>T	uc003fwz.3	+	c.964C>T	c.(964-966)CAT>TAT	p.H322Y	SENP5_uc011bty.1_Missense_Mutation_p.H322Y	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	322					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			lung(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		Ovarian(47;891 1095 11174 13858 51271)								0.103448	4.504207	13.588888	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196613016	196613016	14535	3	C	T	T	T	377	29	SENP5	2	2
RARB	5915	broad.mit.edu	37	3	25637962	25637962	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25637962C>A	uc011awl.1	+	c.1223C>A	c.(1222-1224)CCT>CAT	p.P408H	RARB_uc003cdi.1_Missense_Mutation_p.P289H|RARB_uc003cdh.2_Missense_Mutation_p.P401H	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	408	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|pancreas(1)	2					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)					250				0.123077	11.157321	20.191056	8	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25637962	25637962	13513	3	C	A	A	A	312	24	RARB	2	2
NEK10	152110	broad.mit.edu	37	3	27161262	27161262	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:27161262T>A	uc010hfk.2	-	c.1286A>T	c.(1285-1287)AAT>ATT	p.N429I	NEK10_uc010hfj.2_Missense_Mutation_p.N372I	NEK10		Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1117					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	11										332				0.466667	44.047576	44.076578	14	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27161262	27161262	10721	3	T	A	A	A	664	52	NEK10	3	3
CNTN4	152330	broad.mit.edu	37	3	2944634	2944634	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:2944634T>A	uc003bpc.2	+	c.1152T>A	c.(1150-1152)TGT>TGA	p.C384*	CNTN4_uc003bpb.1_Nonsense_Mutation_p.C56*|CNTN4_uc003bpd.1_Nonsense_Mutation_p.C384*|CNTN4_uc003bpe.2_Nonsense_Mutation_p.C56*|CNTN4_uc003bpf.2_Nonsense_Mutation_p.C56*	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	384	Ig-like C2-type 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)										0.242424	19.58386	21.580152	8	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2944634	2944634	3781	3	T	A	A	A	777	60	CNTN4	5	3
OSBPL10	114884	broad.mit.edu	37	3	31743990	31743990	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:31743990C>A	uc003cev.2	-	c.1106G>T	c.(1105-1107)GGC>GTC	p.G369V	OSBPL10_uc003ceu.1_Missense_Mutation_p.G126V|OSBPL10_uc011axf.1_Missense_Mutation_p.G305V	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	369					lipid transport		lipid binding				0				STAD - Stomach adenocarcinoma(1;0.00406)										0.291667	18.714573	19.648022	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31743990	31743990	11686	3	C	A	A	A	338	26	OSBPL10	2	2
MLH1	4292	broad.mit.edu	37	3	37067448	37067448	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37067448G>A	uc003cgl.2	+	c.1359G>A	c.(1357-1359)AAG>AAA	p.K453K	MLH1_uc011aye.1_Silent_p.K212K|MLH1_uc011ayb.1_Silent_p.K212K|MLH1_uc010hge.2_Silent_p.K453K|MLH1_uc003cgn.3_Silent_p.K212K|MLH1_uc011ayc.1_Silent_p.K355K|MLH1_uc011ayd.1_Silent_p.K212K|MLH1_uc003cgo.2_Silent_p.K212K|MLH1_uc010hgg.1_Silent_p.K112K|MLH1_uc010hgh.1_Silent_p.K112K|MLH1_uc010hgi.1_Silent_p.K95K|MLH1_uc010hgj.1_Silent_p.K95K|MLH1_uc010hgk.2_Silent_p.K95K|MLH1_uc010hgl.1_Intron|MLH1_uc010hgn.2_Silent_p.K95K|MLH1_uc010hgm.2_Non-coding_Transcript|MLH1_uc010hgo.2_Silent_p.K95K	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	453	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|skin(2)|prostate(2)|NS(1)	73								1		349				0.178218	40.500887	50.335865	18	83	KEEP	---	---	---	---	capture		Silent	SNP	37067448	37067448	10007	3	G	A	A	A	451	35	MLH1	2	2
GOLGA4	2803	broad.mit.edu	37	3	37379195	37379195	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37379195G>T	uc003cgw.2	+	c.6411G>T	c.(6409-6411)TCG>TCT	p.S2137S	GOLGA4_uc003cgv.2_Silent_p.S2122S|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.S2003S	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	2122	Potential.				vesicle-mediated transport	Golgi membrane|trans-Golgi network				ovary(2)|breast(1)|central_nervous_system(1)	4														0.307692	23.090681	23.947586	8	18	KEEP	---	---	---	---	capture		Silent	SNP	37379195	37379195	6824	3	G	T	T	T	470	37	GOLGA4	1	1
CHL1	10752	broad.mit.edu	37	3	384665	384665	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:384665A>T	uc003bot.2	+	c.680_splice	c.e8-2	p.L227_splice	CHL1_uc003bou.2_Intron|CHL1_uc003bow.1_Intron|CHL1_uc011asi.1_Splice_Site_SNP_p.L227_splice	NM_006614	NP_006605			cell adhesion molecule with homology to L1CAM						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				0.5	51.125464	51.125464	15	15	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	384665	384665	3483	3	A	T	T	T	91	7	CHL1	5	3
SCN5A	6331	broad.mit.edu	37	3	38592978	38592978	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38592978G>T	uc003cio.2	-	c.4885C>A	c.(4885-4887)CGA>AGA	p.R1629R	SCN5A_uc003cin.2_Silent_p.R1628R|SCN5A_uc003cil.3_Silent_p.R1629R|SCN5A_uc010hhi.2_Silent_p.R1611R|SCN5A_uc010hhk.2_Silent_p.R1596R|SCN5A_uc011ayr.1_Silent_p.R1575R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1629	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.207207	55.0738	63.883293	23	88	KEEP	---	---	---	---	capture		Silent	SNP	38592978	38592978	14404	3	G	T	T	T	506	39	SCN5A	1	1
SCN11A	11280	broad.mit.edu	37	3	38945445	38945445	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38945445T>C	uc011ays.1	-	c.1753A>G	c.(1753-1755)ATC>GTC	p.I585V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	585	Helical; Name=S1 of repeat II; (By similarity).|II.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)									0.508772	85.770367	85.774113	29	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38945445	38945445	14395	3	T	C	C	C	663	51	SCN11A	4	4
XIRP1	165904	broad.mit.edu	37	3	39228314	39228314	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39228314C>T	uc003cjk.1	-	c.2623G>A	c.(2623-2625)GAC>AAC	p.D875N	XIRP1_uc003cji.2_Missense_Mutation_p.D875N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	875							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)										0.4	17.746573	17.877889	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39228314	39228314	18010	3	C	T	T	T	390	30	XIRP1	2	2
XIRP1	165904	broad.mit.edu	37	3	39230226	39230226	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39230226C>G	uc003cjk.1	-	c.711G>C	c.(709-711)ACG>ACC	p.T237T	XIRP1_uc003cji.2_Silent_p.T237T|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237	Xin 5.						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)										0.512821	63.502971	63.508767	20	19	KEEP	---	---	---	---	capture		Silent	SNP	39230226	39230226	18010	3	C	G	G	G	288	23	XIRP1	3	3
XIRP1	165904	broad.mit.edu	37	3	39230525	39230525	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39230525T>A	uc003cjk.1	-	c.412A>T	c.(412-414)AGC>TGC	p.S138C	XIRP1_uc003cji.2_Missense_Mutation_p.S138C|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	138							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)										0.142857	3.808129	6.396022	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39230525	39230525	18010	3	T	A	A	A	715	55	XIRP1	3	3
CCR8	1237	broad.mit.edu	37	3	39374753	39374753	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39374753C>T	uc010hhr.2	+	c.931C>T	c.(931-933)CTC>TTC	p.L311F	CCR8_uc003cjm.2_Missense_Mutation_p.L228F	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	311	Cytoplasmic (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)										0.25	27.432238	29.703569	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39374753	39374753	3074	3	C	T	T	T	312	24	CCR8	2	2
CHL1	10752	broad.mit.edu	37	3	404927	404927	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:404927G>T	uc003bot.2	+	c.1446G>T	c.(1444-1446)CTG>CTT	p.L482L	CHL1_uc003bou.2_Silent_p.L466L|CHL1_uc003bow.1_Silent_p.L466L|CHL1_uc011asi.1_Silent_p.L482L	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	466	Ig-like C2-type 5.|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				0.209302	19.549027	22.915274	9	34	KEEP	---	---	---	---	capture		Silent	SNP	404927	404927	3483	3	G	T	T	T	600	47	CHL1	2	2
CHL1	10752	broad.mit.edu	37	3	432771	432771	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:432771C>A	uc003bot.2	+	c.2720C>A	c.(2719-2721)ACA>AAA	p.T907K	CHL1_uc003bou.2_Missense_Mutation_p.T891K|CHL1_uc003bow.1_Missense_Mutation_p.T891K|CHL1_uc011asi.1_Missense_Mutation_p.T907K	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	891	Fibronectin type-III 3.|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				0.272727	16.14015	17.164482	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	432771	432771	3483	3	C	A	A	A	221	17	CHL1	2	2
C3orf23	285343	broad.mit.edu	37	3	44441874	44441874	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44441874G>C	uc010him.2	+	c.913G>C	c.(913-915)GAC>CAC	p.D305H	C3orf23_uc003cnd.3_Missense_Mutation_p.D305H|C3orf23_uc003cne.3_Missense_Mutation_p.D161H	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	305						mitochondrion				ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)										0.2	18.604497	21.53407	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44441874	44441874	2309	3	G	C	C	C	585	45	C3orf23	3	3
TGM4	7047	broad.mit.edu	37	3	44951712	44951712	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44951712C>A	uc003coc.3	+	c.1458C>A	c.(1456-1458)AAC>AAA	p.N486K		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	486					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)									0.410256	48.602078	48.873139	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44951712	44951712	16360	3	C	A	A	A	259	20	TGM4	2	2
EXOSC7	23016	broad.mit.edu	37	3	45038690	45038690	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45038690G>C	uc003coi.2	+	c.366G>C	c.(364-366)AAG>AAC	p.K122N	EXOSC7_uc003coh.1_Missense_Mutation_p.K57N|EXOSC7_uc011bae.1_Missense_Mutation_p.K122N|EXOSC7_uc010his.1_Missense_Mutation_p.K41N|EXOSC7_uc003coj.2_Missense_Mutation_p.K122N	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	exosome component 7	122					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)										0.448276	44.672412	44.739911	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45038690	45038690	5513	3	G	C	C	C	425	33	EXOSC7	3	3
SETD2	29072	broad.mit.edu	37	3	47084172	47084172	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47084172T>C	uc003cqv.2	-	c.7318A>G	c.(7318-7320)AAT>GAT	p.N2440D	SETD2_uc003cqs.2_Missense_Mutation_p.N2373D|SETD2_uc003cqr.2_5'UTR	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2373					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)										0.416667	33.347444	33.492522	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47084172	47084172	14620	3	T	C	C	C	832	64	SETD2	4	4
DHX30	22907	broad.mit.edu	37	3	47882657	47882657	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47882657C>T	uc003cru.2	+	c.657C>T	c.(655-657)CTC>CTT	p.L219L	DHX30_uc003crs.2_Silent_p.L180L|DHX30_uc003crt.2_Silent_p.L180L|DHX30_uc010hjr.1_Silent_p.L247L	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	219						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)										0.266667	9.596622	10.332278	4	11	KEEP	---	---	---	---	capture		Silent	SNP	47882657	47882657	4683	3	C	T	T	T	366	29	DHX30	2	2
MAP4	4134	broad.mit.edu	37	3	47912757	47912757	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47912757T>A	uc003csb.2	-	c.2526A>T	c.(2524-2526)AAA>AAT	p.K842N	MAP4_uc003csc.3_Missense_Mutation_p.K842N|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Missense_Mutation_p.K102N|MAP4_uc011bbe.1_Missense_Mutation_p.K593N|MAP4_uc003cry.2_Missense_Mutation_p.K577N|MAP4_uc003csa.3_Missense_Mutation_p.K577N|MAP4_uc003crz.3_Non-coding_Transcript|MAP4_uc003csd.2_Missense_Mutation_p.K577N	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	842					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)										0.243697	71.215076	78.340404	29	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47912757	47912757	9641	3	T	A	A	A	777	60	MAP4	3	3
ITPR1	3708	broad.mit.edu	37	3	4856882	4856882	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:4856882A>T	uc003bqa.2	+	c.7703A>T	c.(7702-7704)AAG>ATG	p.K2568M	ITPR1_uc010hca.1_Missense_Mutation_p.K2553M|ITPR1_uc011asu.1_Missense_Mutation_p.K579M|ITPR1_uc003bqc.2_Missense_Mutation_p.K1538M|ITPR1_uc010hcc.1_Missense_Mutation_p.K336M|ITPR1_uc011asv.1_Missense_Mutation_p.K292M	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2616	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			ovary(4)|breast(2)|large_intestine(1)|kidney(1)|liver(1)|skin(1)|pancreas(1)	11				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)						2114				0.512195	66.073863	66.079108	21	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4856882	4856882	8224	3	A	T	T	T	39	3	ITPR1	3	3
COL7A1	1294	broad.mit.edu	37	3	48617238	48617238	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48617238C>T	uc003ctz.2	-	c.5134G>A	c.(5134-5136)GGA>AGA	p.G1712R	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1712	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.470588	25.497754	25.510625	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48617238	48617238	3842	3	C	T	T	T	312	24	COL7A1	2	2
QRICH1	54870	broad.mit.edu	37	3	49095211	49095211	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49095211C>T	uc010hkq.2	-	c.422G>A	c.(421-423)GGC>GAC	p.G141D	QRICH1_uc003cvu.2_Missense_Mutation_p.G141D|QRICH1_uc003cvv.2_Missense_Mutation_p.G141D	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	141	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)										0.407407	31.519162	31.72158	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49095211	49095211	13337	3	C	T	T	T	338	26	QRICH1	2	2
GRM2	2912	broad.mit.edu	37	3	51750113	51750113	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51750113C>A	uc010hlv.2	+	c.2324C>A	c.(2323-2325)GCA>GAA	p.A775E	GRM2_uc003dbo.3_Missense_Mutation_p.A157E|GRM2_uc010hlu.2_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	775	Helical; Name=6; (Potential).				synaptic transmission	integral to plasma membrane					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)									0.3	7.420746	7.778396	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51750113	51750113	7076	3	C	A	A	A	325	25	GRM2	2	2
LRTM1	57408	broad.mit.edu	37	3	54952837	54952837	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:54952837G>T	uc003dhl.2	-	c.687C>A	c.(685-687)TAC>TAA	p.Y229*	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	229	Extracellular (Potential).|LRRCT.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)										0.52381	34.426882	34.437358	11	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54952837	54952837	9420	3	G	T	T	T	568	44	LRTM1	5	2
ERC2	26059	broad.mit.edu	37	3	56183085	56183085	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:56183085C>T	uc003dhr.1	-	c.1225G>A	c.(1225-1227)GTG>ATG	p.V409M		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	409	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)										0.388889	18.618888	18.814173	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56183085	56183085	5404	3	C	T	T	T	221	17	ERC2	2	2
APPL1	26060	broad.mit.edu	37	3	57303660	57303660	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:57303660A>T	uc003dio.2	+	c.2075A>T	c.(2074-2076)CAG>CTG	p.Q692L	ASB14_uc003dip.1_Intron|ASB14_uc003diq.2_Intron	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	692					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)										0.466667	68.671925	68.715388	21	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57303660	57303660	828	3	A	T	T	T	91	7	APPL1	3	3
FAM3D	131177	broad.mit.edu	37	3	58639444	58639444	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58639444G>A	uc003dkq.2	-	c.78C>T	c.(76-78)TAC>TAT	p.Y26Y		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	26					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)										0.446809	61.666798	61.782903	21	26	KEEP	---	---	---	---	capture		Silent	SNP	58639444	58639444	5780	3	G	A	A	A	620	48	FAM3D	2	2
CADPS	8618	broad.mit.edu	37	3	62860687	62860688	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:62860687_62860688GG>AT	uc003dll.2	-	c.17_18CC>AT	c.(16-18)TCC>TAT	p.S6Y	CADPS_uc003dlm.2_Missense_Mutation_p.S6Y|CADPS_uc003dln.2_Missense_Mutation_p.S6Y	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	6					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)										0.6	8.725146	8.768711	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	62860687	62860688	2686	3	GG	AT	AT	AT	600	47	CADPS	2	2
ADAMTS9	56999	broad.mit.edu	37	3	64592756	64592756	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:64592756C>A	uc003dmg.2	-	c.3355_splice	c.e23-1	p.C1119_splice	ADAMTS9_uc011bfo.1_Splice_Site_SNP_p.C1091_splice|ADAMTS9_uc003dmh.1_Splice_Site_SNP_p.C948_splice|ADAMTS9_uc011bfp.1_Splice_Site_SNP_p.C30_splice	NM_182920	NP_891550			ADAM metallopeptidase with thrombospondin type 1						glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)										0.157895	16.736825	23.09942	9	48	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	64592756	64592756	274	3	C	A	A	A	260	20	ADAMTS9	5	2
PPP4R2	151987	broad.mit.edu	37	3	73096425	73096425	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73096425G>T	uc003dph.1	+	c.205G>T	c.(205-207)GGT>TGT	p.G69C	PPP4R2_uc003dpi.1_Intron	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	69					mRNA processing|protein modification process|RNA splicing	centrosome|nucleus	protein binding			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)										0.3	8.120815	8.478364	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73096425	73096425	12840	3	G	T	T	T	455	35	PPP4R2	2	2
PPP4R2	151987	broad.mit.edu	37	3	73113183	73113183	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73113183G>T	uc003dph.1	+	c.524G>T	c.(523-525)AGG>ATG	p.R175M	PPP4R2_uc003dpi.1_Missense_Mutation_p.R118M	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	175					mRNA processing|protein modification process|RNA splicing	centrosome|nucleus	protein binding			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)										0.458333	33.922297	33.958619	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73113183	73113183	12840	3	G	T	T	T	455	35	PPP4R2	2	2
ROBO2	6092	broad.mit.edu	37	3	77542422	77542422	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77542422T>G	uc003dpz.2	+	c.695T>G	c.(694-696)ATT>AGT	p.I232S	ROBO2_uc003dpy.3_Missense_Mutation_p.I232S|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.I232S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	232	Ig-like C2-type 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.119048	8.545024	14.528432	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77542422	77542422	13993	3	T	G	G	G	676	52	ROBO2	4	4
ROBO2	6092	broad.mit.edu	37	3	77623727	77623727	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77623727G>A	uc003dpz.2	+	c.2061G>A	c.(2059-2061)TCG>TCA	p.S687S	ROBO2_uc003dpy.3_Silent_p.S683S|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Silent_p.S687S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	683	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.151515	8.455127	12.291946	5	28	KEEP	---	---	---	---	capture		Silent	SNP	77623727	77623727	13993	3	G	A	A	A	509	40	ROBO2	1	1
ROBO2	6092	broad.mit.edu	37	3	77666736	77666736	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77666736G>T	uc003dpz.2	+	c.3378G>T	c.(3376-3378)CTG>CTT	p.L1126L	ROBO2_uc003dpy.3_Silent_p.L1122L|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Silent_p.L1126L|ROBO2_uc003dqa.2_Silent_p.L249L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1122	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.545455	77.201424	77.280252	24	20	KEEP	---	---	---	---	capture		Silent	SNP	77666736	77666736	13993	3	G	T	T	T	600	47	ROBO2	2	2
CADM2	253559	broad.mit.edu	37	3	85961574	85961574	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:85961574G>T	uc003dql.2	+	c.560G>T	c.(559-561)AGC>ATC	p.S187I	CADM2_uc003dqj.2_Missense_Mutation_p.S185I|CADM2_uc003dqk.2_Missense_Mutation_p.S194I	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	185	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)	3		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)										0.277778	25.733237	27.333727	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85961574	85961574	2683	3	G	T	T	T	442	34	CADM2	2	2
OR5H6	79295	broad.mit.edu	37	3	97983526	97983526	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97983526C>A	uc003dsi.1	+	c.398C>A	c.(397-399)ACA>AAA	p.T133K		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	133	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2														0.123457	12.992847	24.228662	10	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97983526	97983526	11573	3	C	A	A	A	221	17	OR5H6	2	2
OR5K4	403278	broad.mit.edu	37	3	98073342	98073342	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98073342G>T	uc011bgv.1	+	c.645G>T	c.(643-645)TTG>TTT	p.L215F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.32967	81.997043	84.348795	30	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98073342	98073342	11579	3	G	T	T	T	581	45	OR5K4	2	2
TACR3	6870	broad.mit.edu	37	4	104640351	104640351	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104640351T>A	uc003hxe.1	-	c.482A>T	c.(481-483)CAG>CTG	p.Q161L		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	161	Helical; Name=3; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)										0.22	28.709936	32.311019	11	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104640351	104640351	16028	4	T	A	A	A	715	55	TACR3	3	3
NPNT	255743	broad.mit.edu	37	4	106858224	106858224	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106858224C>T	uc011cfd.1	+	c.414C>T	c.(412-414)TAC>TAT	p.Y138Y	NPNT_uc003hya.2_Silent_p.Y108Y|NPNT_uc011cfc.1_Silent_p.Y125Y|NPNT_uc011cfe.1_Silent_p.Y138Y|NPNT_uc010ilt.1_Silent_p.Y108Y|NPNT_uc011cff.1_Silent_p.Y108Y|NPNT_uc010ilu.1_Silent_p.Y4Y	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	108	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)										0.157895	4.912338	7.033657	3	16	KEEP	---	---	---	---	capture		Silent	SNP	106858224	106858224	10995	4	C	T	T	T	246	19	NPNT	1	1
HADH	3033	broad.mit.edu	37	4	108955412	108955412	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:108955412G>A	uc010ilx.2	+	c.895G>A	c.(895-897)GCA>ACA	p.A299T	HADH_uc003hyq.2_Missense_Mutation_p.A282T|HADH_uc010ily.2_Missense_Mutation_p.A105T|HADH_uc003hyr.2_Missense_Mutation_p.A286T	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	282					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)									0.479167	200.255302	200.310226	69	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108955412	108955412	7224	4	G	A	A	A	598	46	HADH	2	2
COL25A1	84570	broad.mit.edu	37	4	109767294	109767294	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109767294C>A	uc003hze.1	-	c.1515_splice	c.e27+1	p.P505_splice	COL25A1_uc003hzg.2_Splice_Site_SNP_p.P505_splice|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Splice_Site_SNP_p.P263_splice	NM_198721	NP_942014			collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)										0.333333	36.710346	37.584915	12	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	109767294	109767294	3822	4	C	A	A	A	234	18	COL25A1	5	2
COL25A1	84570	broad.mit.edu	37	4	109780836	109780836	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109780836G>T	uc003hze.1	-	c.1296C>A	c.(1294-1296)AAC>AAA	p.N432K	COL25A1_uc003hzg.2_Missense_Mutation_p.N432K|COL25A1_uc003hzd.2_Non-coding_Transcript|COL25A1_uc003hzf.2_Missense_Mutation_p.N198K	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	432	Extracellular (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)										0.4375	45.648813	45.75709	14	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109780836	109780836	3822	4	G	T	T	T	516	40	COL25A1	1	1
RRH	10692	broad.mit.edu	37	4	110754370	110754370	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110754370A>G	uc003hzv.2	+	c.182A>G	c.(181-183)AAT>AGT	p.N61S		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	61	Cytoplasmic.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)										0.111111	12.785373	26.240448	10	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110754370	110754370	14160	4	A	G	G	G	52	4	RRH	4	4
ANK2	287	broad.mit.edu	37	4	114290761	114290761	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114290761C>A	uc003ibe.3	+	c.11410C>A	c.(11410-11412)CCT>ACT	p.P3804T	ANK2_uc003ibd.3_Missense_Mutation_p.P1710T|ANK2_uc003ibf.3_Missense_Mutation_p.P1719T|ANK2_uc011cgc.1_Missense_Mutation_p.P895T|ANK2_uc003ibg.3_Missense_Mutation_p.P703T|ANK2_uc003ibh.3_Missense_Mutation_p.P393T|ANK2_uc011cgd.1_Missense_Mutation_p.P1106T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3771					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)										0.478261	129.590576	129.628468	44	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114290761	114290761	624	4	C	A	A	A	286	22	ANK2	2	2
ANK2	287	broad.mit.edu	37	4	114290873	114290873	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114290873C>A	uc003ibe.3	+	c.11522C>A	c.(11521-11523)CCG>CAG	p.P3841Q	ANK2_uc003ibd.3_Missense_Mutation_p.P1747Q|ANK2_uc003ibf.3_Missense_Mutation_p.P1756Q|ANK2_uc011cgc.1_Missense_Mutation_p.P932Q|ANK2_uc003ibg.3_Missense_Mutation_p.P740Q|ANK2_uc003ibh.3_Missense_Mutation_p.P430Q|ANK2_uc011cgd.1_Missense_Mutation_p.P1143Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3808					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)										0.527027	126.936428	126.984356	39	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114290873	114290873	624	4	C	A	A	A	299	23	ANK2	1	1
CAMK2D	817	broad.mit.edu	37	4	114378602	114378602	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114378602C>A	uc003ibo.3	-	c.1424G>T	c.(1423-1425)AGT>ATT	p.S475I	CAMK2D_uc003ibi.2_Missense_Mutation_p.S441I|CAMK2D_uc003ibj.2_Missense_Mutation_p.S441I|CAMK2D_uc003ibk.2_Missense_Mutation_p.S441I|CAMK2D_uc003ibm.2_Missense_Mutation_p.S455I|CAMK2D_uc003ibn.2_Missense_Mutation_p.S452I|CAMK2D_uc003ibl.2_Missense_Mutation_p.S441I	NM_172114	NP_742112	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	441					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)						372				0.248227	89.439289	97.587789	35	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114378602	114378602	2718	4	C	A	A	A	260	20	CAMK2D	2	2
NDST4	64579	broad.mit.edu	37	4	115997856	115997856	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115997856C>A	uc003ibu.2	-	c.337G>T	c.(337-339)GGA>TGA	p.G113*	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	113	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.236111	42.848848	47.425535	17	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	115997856	115997856	10657	4	C	A	A	A	273	21	NDST4	5	2
MYOZ2	51778	broad.mit.edu	37	4	120085450	120085450	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:120085450A>G	uc003icp.3	+	c.461A>G	c.(460-462)CAA>CGA	p.Q154R		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	154							protein phosphatase 2B binding				0														0.189655	18.881652	24.120533	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120085450	120085450	10491	4	A	G	G	G	65	5	MYOZ2	4	4
MAD2L1	4085	broad.mit.edu	37	4	120982124	120982124	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:120982124C>A	uc003idl.2	-	c.350G>T	c.(349-351)AGA>ATA	p.R117I	MAD2L1_uc003idm.2_Nonsense_Mutation_p.E77*	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	MAD2-like 1	117	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity				0														0.428571	8.82368	8.854876	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120982124	120982124	9525	4	C	A	A	A	416	32	MAD2L1	2	2
QRFPR	84109	broad.mit.edu	37	4	122251665	122251665	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122251665C>A	uc010inj.1	-	c.811G>T	c.(811-813)GCT>TCT	p.A271S	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.S233I	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	271	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity				0														0.490196	76.470345	76.474686	25	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122251665	122251665	13336	4	C	A	A	A	364	28	QRFPR	2	2
FAT4	79633	broad.mit.edu	37	4	126241863	126241863	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126241863A>G	uc003ifj.3	+	c.4297A>G	c.(4297-4299)ATT>GTT	p.I1433V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1433	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.328947	64.440356	66.416337	25	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126241863	126241863	5928	4	A	G	G	G	104	8	FAT4	4	4
HSPA4L	22824	broad.mit.edu	37	4	128751910	128751910	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128751910C>T	uc003ifm.2	+	c.2284C>T	c.(2284-2286)CAA>TAA	p.Q762*	HSPA4L_uc011cgr.1_Nonsense_Mutation_p.Q729*	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	762					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.258065	19.383981	21.029484	8	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128751910	128751910	7712	4	C	T	T	T	377	29	HSPA4L	5	2
PCDH18	54510	broad.mit.edu	37	4	138450956	138450956	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138450956G>T	uc003ihe.3	-	c.2287C>A	c.(2287-2289)CCT>ACT	p.P763T	PCDH18_uc003ihf.3_Missense_Mutation_p.P756T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.P543T|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	763	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.212766	21.422029	25.007644	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138450956	138450956	11933	4	G	T	T	T	546	42	PCDH18	2	2
ABCE1	6059	broad.mit.edu	37	4	146042355	146042355	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146042355C>T	uc003ijx.2	+	c.1174C>T	c.(1174-1176)CTT>TTT	p.L392F	ABCE1_uc003ijy.2_Missense_Mutation_p.L392F|ABCE1_uc010iot.2_Non-coding_Transcript	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	392	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity				0	all_hematologic(180;0.151)													0.544118	120.479492	120.594483	37	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146042355	146042355	65	4	C	T	T	T	364	28	ABCE1	2	2
POU4F2	5458	broad.mit.edu	37	4	147561327	147561327	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147561327G>A	uc003ikv.2	+	c.597G>A	c.(595-597)GGG>GGA	p.G199G		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	199					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)													0.444444	11.599218	11.623323	4	5	KEEP	---	---	---	---	capture		Silent	SNP	147561327	147561327	12709	4	G	A	A	A	535	42	POU4F2	2	2
DCHS2	54798	broad.mit.edu	37	4	155287496	155287496	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155287496C>G	uc003inw.2	-	c.560G>C	c.(559-561)AGT>ACT	p.S187T	DCHS2_uc003inx.2_Missense_Mutation_p.S781T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	187	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.12	5.007468	8.548201	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155287496	155287496	4459	4	C	G	G	G	260	20	DCHS2	3	3
FGA	2243	broad.mit.edu	37	4	155505595	155505595	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155505595G>T	uc003iod.1	-	c.2282C>A	c.(2281-2283)ACT>AAT	p.T761N		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	761	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.550459	190.304861	190.545847	60	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155505595	155505595	6067	4	G	T	T	T	468	36	FGA	2	2
GLRB	2743	broad.mit.edu	37	4	157999241	157999241	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:157999241C>A	uc003ipj.2	+	c.65C>A	c.(64-66)TCT>TAT	p.S22Y		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	22					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)									0.564356	176.480691	176.84414	57	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157999241	157999241	6726	4	C	A	A	A	416	32	GLRB	2	2
GRIA2	2891	broad.mit.edu	37	4	158233871	158233871	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158233871A>G	uc003ipm.3	+	c.510A>G	c.(508-510)GAA>GAG	p.E170E	GRIA2_uc011cit.1_Silent_p.E123E|GRIA2_uc003ipl.3_Silent_p.E170E|GRIA2_uc003ipk.3_Silent_p.E123E|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	170	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.093023	3.666352	10.830212	4	39	KEEP	---	---	---	---	capture		Silent	SNP	158233871	158233871	7046	4	A	G	G	G	11	1	GRIA2	4	4
GRIA2	2891	broad.mit.edu	37	4	158284152	158284152	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158284152A>T	uc003ipm.3	+	c.2608A>T	c.(2608-2610)AAG>TAG	p.K870*	GRIA2_uc011cit.1_Nonsense_Mutation_p.K823*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.K870*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.K823*|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	870	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.202532	34.189155	40.658458	16	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158284152	158284152	7046	4	A	T	T	T	169	13	GRIA2	5	3
FNIP2	57600	broad.mit.edu	37	4	159780351	159780351	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159780351T>G	uc003iqe.3	+	c.1000T>G	c.(1000-1002)TTT>GTT	p.F334V		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	334					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)										0.2	25.39297	29.997359	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159780351	159780351	6218	4	T	G	G	G	728	56	FNIP2	4	4
FSTL5	56884	broad.mit.edu	37	4	163032428	163032429	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:163032428_163032429GT>AA	uc003iqh.2	-	c.120_121AC>TT	c.(118-123)CGACAT>CGTTAT	p.H41Y	FSTL5_uc003iqi.2_Missense_Mutation_p.H41Y|FSTL5_uc010iqv.2_Missense_Mutation_p.H41Y	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	41						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)										0.290323	48.223894	50.66704	18	44	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	163032428	163032429	6331	4	GT	AA	AA	AA	624	48	FSTL5	2	2
QDPR	5860	broad.mit.edu	37	4	17510895	17510895	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17510895T>A	uc003gpd.2	-	c.197A>T	c.(196-198)CAG>CTG	p.Q66L	QDPR_uc003gpe.2_Intron|QDPR_uc003gpf.2_Non-coding_Transcript	NM_000320	NP_000311	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	66			Q -> R (in HPABH4C; severe).		dihydrobiopterin metabolic process|L-phenylalanine catabolic process|oxidation-reduction process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			ovary(1)	1					NADH(DB00157)									0.184211	13.706109	17.259463	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17510895	17510895	13330	4	T	A	A	A	715	55	QDPR	3	3
ODZ3	55714	broad.mit.edu	37	4	183650187	183650187	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183650187G>T	uc003ivd.1	+	c.2438G>T	c.(2437-2439)CGG>CTG	p.R813L	ODZ3_uc003ive.1_Missense_Mutation_p.R219L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	813	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.73913	58.697876	59.910169	17	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183650187	183650187	11241	4	G	T	T	T	507	39	ODZ3	1	1
DCTD	1635	broad.mit.edu	37	4	183836119	183836119	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183836119C>G	uc003ivg.2	-	c.234G>C	c.(232-234)TGG>TGC	p.W78C	DCTD_uc003ivf.2_Missense_Mutation_p.W67C|DCTD_uc010irw.2_Intron|DCTD_uc003ivh.2_Intron	NM_001012732	NP_001012750	P32321	DCTD_HUMAN	dCMP deaminase isoform a	67					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)										0.217391	11.753818	13.458826	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183836119	183836119	4476	4	C	G	G	G	390	30	DCTD	3	3
TUBB4Q	56604	broad.mit.edu	37	4	190903817	190903817	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:190903817C>A	uc011clg.1	-	c.1163G>T	c.(1162-1164)AGG>ATG	p.R388M		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	389					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)										0.571429	12.800779	12.831878	4	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190903817	190903817	17314	4	C	A	A	A	312	24	TUBB4Q	2	2
SLIT2	9353	broad.mit.edu	37	4	20525756	20525756	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20525756A>G	uc003gpr.1	+	c.1394A>G	c.(1393-1395)AAC>AGC	p.N465S	SLIT2_uc003gps.1_Missense_Mutation_p.N465S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	465	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.343066	143.778429	146.761349	47	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20525756	20525756	15238	4	A	G	G	G	26	2	SLIT2	4	4
GBA3	57733	broad.mit.edu	37	4	22749369	22749369	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22749369C>A	uc003gqp.3	+	c.737C>A	c.(736-738)GCC>GAC	p.A246D	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.A247D	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	246					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0														0.425676	181.600421	182.313308	63	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22749369	22749369	6534	4	C	A	A	A	338	26	GBA3	2	2
CCDC149	91050	broad.mit.edu	37	4	24838087	24838087	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:24838087G>T	uc003grc.2	-	c.706C>A	c.(706-708)CTC>ATC	p.L236I	CCDC149_uc003grb.2_Non-coding_Transcript|CCDC149_uc003grd.2_Intron|CCDC149_uc011bxr.1_Missense_Mutation_p.L236I|CCDC149_uc003gre.2_Missense_Mutation_p.L181I|CCDC149_uc011bxq.1_Missense_Mutation_p.L109I	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149 isoform 2	236											0		Breast(46;0.173)												0.37	216.388254	219.362186	74	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24838087	24838087	2903	4	G	T	T	T	455	35	CCDC149	2	2
RNF4	6047	broad.mit.edu	37	4	2515395	2515395	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2515395A>G	uc003gfb.2	+	c.424_splice	c.e8-2	p.I142_splice	RNF4_uc010icj.2_Splice_Site_SNP_p.R88_splice|RNF4_uc003gfc.2_Splice_Site_SNP_p.I142_splice	NM_002938	NP_002929			ring finger protein 4						androgen receptor signaling pathway|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(65;0.241)												0.470588	82.399095	82.437241	24	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2515395	2515395	13971	4	A	G	G	G	195	15	RNF4	5	4
RBPJ	3516	broad.mit.edu	37	4	26432487	26432487	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:26432487G>C	uc003grx.1	+	c.1361G>C	c.(1360-1362)TGC>TCC	p.C454S	RBPJ_uc003gry.1_Missense_Mutation_p.C439S|RBPJ_uc003grz.1_Missense_Mutation_p.C454S|RBPJ_uc003gsa.1_Missense_Mutation_p.C440S|RBPJ_uc003gsb.1_Missense_Mutation_p.C441S|RBPJ_uc003gsc.1_3'UTR	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	454					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		Breast(46;0.0503)								165				0.283186	95.75274	100.523052	32	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26432487	26432487	13630	4	G	C	C	C	598	46	RBPJ	3	3
ADRA2C	152	broad.mit.edu	37	4	3768696	3768696	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3768696G>T	uc003ghm.2	+	c.363G>T	c.(361-363)CAG>CAT	p.Q121H	ADRA2C_uc010icx.2_Missense_Mutation_p.Q121H	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	121	Extracellular (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	Esophageal Squamous(12;454 628 4517 14479)								0.642857	29.978541	30.230043	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3768696	3768696	340	4	G	T	T	T	451	35	ADRA2C	2	2
TBC1D1	23216	broad.mit.edu	37	4	38117331	38117331	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38117331G>T	uc003gtb.2	+	c.2558G>T	c.(2557-2559)GGG>GTG	p.G853V	TBC1D1_uc011byd.1_Missense_Mutation_p.G947V|TBC1D1_uc010ifd.2_Missense_Mutation_p.G640V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	853	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			ovary(1)	1														0.330986	126.245359	129.806001	47	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38117331	38117331	16119	4	G	T	T	T	559	43	TBC1D1	2	2
KLB	152831	broad.mit.edu	37	4	39448730	39448730	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39448730G>T	uc003gua.2	+	c.2384G>T	c.(2383-2385)CGA>CTA	p.R795L	KLB_uc011byj.1_Missense_Mutation_p.R786L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	795	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1														0.269231	17.414535	18.663482	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39448730	39448730	8644	4	G	T	T	T	481	37	KLB	1	1
RBM47	54502	broad.mit.edu	37	4	40440684	40440684	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40440684C>A	uc003gvc.2	-	c.227G>T	c.(226-228)GGC>GTC	p.G76V	RBM47_uc003gvd.2_Missense_Mutation_p.G76V|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.G38V|RBM47_uc003gvg.1_Missense_Mutation_p.G76V	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	76	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(3)	3														0.310345	22.563216	23.493119	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40440684	40440684	13603	4	C	A	A	A	338	26	RBM47	2	2
NSUN7	79730	broad.mit.edu	37	4	40752747	40752747	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40752747G>A	uc003gvj.3	+	c.37G>A	c.(37-39)GAA>AAA	p.E13K	NSUN7_uc003gvh.2_Missense_Mutation_p.E13K|NSUN7_uc003gvi.3_Missense_Mutation_p.E13K	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0														0.271186	41.28082	44.062547	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40752747	40752747	11088	4	G	A	A	A	481	37	NSUN7	1	1
GABRA4	2557	broad.mit.edu	37	4	46994950	46994950	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46994950G>T	uc003gxg.2	-	c.100C>A	c.(100-102)CCA>ACA	p.P34T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	34					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.159091	13.200975	18.069729	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46994950	46994950	6414	4	G	T	T	T	559	43	GABRA4	2	2
ATP10D	57205	broad.mit.edu	37	4	47589199	47589199	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47589199C>T	uc003gxk.1	+	c.3917C>T	c.(3916-3918)ACG>ATG	p.T1306M	ATP10D_uc003gxl.1_Missense_Mutation_p.T554M	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1306	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3														0.184466	41.901601	51.491424	19	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47589199	47589199	1137	4	C	T	T	T	247	19	ATP10D	1	1
CWH43	80157	broad.mit.edu	37	4	48996711	48996711	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48996711T>A	uc003gyv.2	+	c.587T>A	c.(586-588)CTG>CAG	p.L196Q	CWH43_uc011bzl.1_Missense_Mutation_p.L169Q	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	196	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane				ovary(1)	1														0.350649	77.40198	78.916913	27	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48996711	48996711	4233	4	T	A	A	A	715	55	CWH43	3	3
LRRC66	339977	broad.mit.edu	37	4	52861525	52861525	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52861525C>A	uc003gzi.2	-	c.1663G>T	c.(1663-1665)GTC>TTC	p.V555F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	555						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.375	147.665971	149.38362	48	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52861525	52861525	9393	4	C	A	A	A	247	19	LRRC66	1	1
PDGFRA	5156	broad.mit.edu	37	4	55144560	55144560	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55144560C>T	uc003han.3	+	c.2034C>T	c.(2032-2034)TTC>TTT	p.F678F	PDGFRA_uc003haa.2_Silent_p.F438F|PDGFRA_uc010igq.1_Silent_p.F572F|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Silent_p.F57F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	678	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.088235	2.89628	14.552532	6	62	KEEP	---	---	---	---	capture		Silent	SNP	55144560	55144560	12082	4	C	T	T	T	415	32	PDGFRA	2	2
KIT	3815	broad.mit.edu	37	4	55564642	55564642	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55564642G>T	uc010igr.2	+	c.530G>T	c.(529-531)CGC>CTC	p.R177L	KIT_uc010igs.2_Missense_Mutation_p.R177L	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	177	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				0.536585	73.858506	73.907166	22	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55564642	55564642	8641	4	G	T	T	T	494	38	KIT	1	1
KIT	3815	broad.mit.edu	37	4	55570038	55570038	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55570038C>T	uc010igr.2	+	c.905C>T	c.(904-906)ACA>ATA	p.T302I	KIT_uc010igs.2_Missense_Mutation_p.T302I	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	302	Extracellular (Potential).|Ig-like C2-type 3.				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				0.153846	13.663712	19.623804	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55570038	55570038	8641	4	C	T	T	T	221	17	KIT	2	2
KDR	3791	broad.mit.edu	37	4	55961048	55961048	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55961048G>T	uc003has.2	-	c.2892C>A	c.(2890-2892)GAC>GAA	p.D964E	KDR_uc003hat.1_Missense_Mutation_p.D964E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	964	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.176471	49.818022	63.234861	24	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55961048	55961048	8445	4	G	T	T	T	620	48	KDR	2	2
SPINK2	6691	broad.mit.edu	37	4	57686702	57686702	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57686702C>G	uc003hcg.1	-	c.99G>C	c.(97-99)ACG>ACC	p.T33T		NM_021114	NP_066937	P20155	ISK2_HUMAN	serine protease inhibitor, Kazal type 2	33	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0	Glioma(25;0.08)|all_neural(26;0.181)													0.181818	13.880036	18.064889	8	36	KEEP	---	---	---	---	capture		Silent	SNP	57686702	57686702	15572	4	C	G	G	G	288	23	SPINK2	3	3
CRMP1	1400	broad.mit.edu	37	4	5843112	5843112	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5843112C>T	uc003gis.2	-	c.1076G>A	c.(1075-1077)CGG>CAG	p.R359Q	CRMP1_uc003gin.1_Missense_Mutation_p.R157Q|CRMP1_uc003gip.2_Missense_Mutation_p.R245Q|CRMP1_uc003giq.2_Missense_Mutation_p.R245Q|CRMP1_uc003gir.2_Missense_Mutation_p.R240Q	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 1	245					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(1)	1				Colorectal(103;0.0721)										0.25	110.945535	120.722558	43	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5843112	5843112	4029	4	C	T	T	T	299	23	CRMP1	1	1
CRMP1	1400	broad.mit.edu	37	4	5844826	5844826	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5844826A>T	uc003gis.2	-	c.1026T>A	c.(1024-1026)CCT>CCA	p.P342P	CRMP1_uc003gin.1_Silent_p.P140P|CRMP1_uc003gip.2_Silent_p.P228P|CRMP1_uc003giq.2_Silent_p.P228P|CRMP1_uc003gir.2_Silent_p.P223P	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 1	228					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(1)	1				Colorectal(103;0.0721)										0.440367	153.28702	153.624557	48	61	KEEP	---	---	---	---	capture		Silent	SNP	5844826	5844826	4029	4	A	T	T	T	80	7	CRMP1	3	3
PPP2R2C	5522	broad.mit.edu	37	4	6377597	6377597	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6377597C>T	uc003gja.2	-	c.396G>A	c.(394-396)CTG>CTA	p.L132L	PPP2R2C_uc003gjb.2_Silent_p.L115L|PPP2R2C_uc003gjc.2_Silent_p.L132L|PPP2R2C_uc011bwd.1_Silent_p.L125L|PPP2R2C_uc011bwe.1_Silent_p.L125L|PPP2R2C_uc003gjd.1_Silent_p.L220L	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	132					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3														0.24	72.881745	80.599114	30	95	KEEP	---	---	---	---	capture		Silent	SNP	6377597	6377597	12822	4	C	T	T	T	366	29	PPP2R2C	2	2
EPHA5	2044	broad.mit.edu	37	4	66467531	66467531	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66467531G>T	uc011cah.1	-	c.738C>A	c.(736-738)ACC>ACA	p.T246T	EPHA5_uc003hcx.2_Silent_p.T177T|EPHA5_uc003hcy.2_Silent_p.T246T|EPHA5_uc003hcz.2_Silent_p.T246T|EPHA5_uc011cai.1_Silent_p.T246T|EPHA5_uc003hda.2_Silent_p.T246T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	246	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.232558	24.532197	27.345406	10	33	KEEP	---	---	---	---	capture		Silent	SNP	66467531	66467531	5363	4	G	T	T	T	600	47	EPHA5	2	2
UGT2B4	7363	broad.mit.edu	37	4	70359446	70359446	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70359446C>G	uc003hek.3	-	c.835G>C	c.(835-837)GGA>CGA	p.G279R	UGT2B4_uc011cap.1_Missense_Mutation_p.G143R|UGT2B4_uc003hel.3_Missense_Mutation_p.G279R	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	279					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.172131	45.905301	58.292346	21	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70359446	70359446	17519	4	C	G	G	G	312	24	UGT2B4	3	3
C4orf35	85438	broad.mit.edu	37	4	71201001	71201001	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71201001G>T	uc003hff.2	+	c.245G>T	c.(244-246)GGG>GTG	p.G82V		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	82						flagellum	calcium ion binding				0		all_hematologic(202;0.196)												0.336538	97.49119	99.950212	35	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71201001	71201001	2360	4	G	T	T	T	559	43	C4orf35	2	2
ENAM	10117	broad.mit.edu	37	4	71509884	71509884	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71509884G>A	uc011caw.1	+	c.2741G>A	c.(2740-2742)AGT>AAT	p.S914N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	914					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)											0.206522	45.086802	52.422035	19	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71509884	71509884	5305	4	G	A	A	A	468	36	ENAM	2	2
RCHY1	25898	broad.mit.edu	37	4	76415855	76415855	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76415855C>A	uc003hik.2	-	c.593G>T	c.(592-594)AGA>ATA	p.R198I	RCHY1_uc010iio.2_Missense_Mutation_p.R94I|RCHY1_uc003hij.2_Missense_Mutation_p.E197D|RCHY1_uc003hil.2_Missense_Mutation_p.R189I|RCHY1_uc010iip.2_Missense_Mutation_p.E185D|RCHY1_uc010iiq.2_Non-coding_Transcript|RCHY1_uc010iir.2_Missense_Mutation_p.R158I	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain	198					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)											0.189189	14.204852	17.547785	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76415855	76415855	13646	4	C	A	A	A	416	32	RCHY1	2	2
CXCL11	6373	broad.mit.edu	37	4	76957126	76957126	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76957126G>A	uc003hjm.2	-	c.15C>T	c.(13-15)GGC>GGT	p.G5G	ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron	NM_005409	NP_005400	O14625	CXL11_HUMAN	small inducible cytokine B11 precursor	5					cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity				0			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			Pancreas(31;57 931 1690 18027 37686)								0.216216	17.79513	20.533368	8	29	KEEP	---	---	---	---	capture		Silent	SNP	76957126	76957126	4239	4	G	A	A	A	587	46	CXCL11	2	2
CPZ	8532	broad.mit.edu	37	4	8602996	8602996	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8602996G>A	uc003glm.2	+	c.268G>A	c.(268-270)GAA>AAA	p.E90K	CPZ_uc003gll.2_Non-coding_Transcript|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.E79K|CPZ_uc003glp.2_Non-coding_Transcript	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	90	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.285714	14.743912	15.608104	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8602996	8602996	3978	4	G	A	A	A	533	41	CPZ	2	2
MAPK10	5602	broad.mit.edu	37	4	86988935	86988935	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:86988935T>A	uc003hpq.2	-	c.976A>T	c.(976-978)AAA>TAA	p.K326*	MAPK10_uc010ikg.2_Nonsense_Mutation_p.K288*|MAPK10_uc003hpr.2_Nonsense_Mutation_p.K288*|MAPK10_uc003hps.2_Nonsense_Mutation_p.K326*|MAPK10_uc003hpt.2_Nonsense_Mutation_p.K326*|MAPK10_uc003hpu.2_Nonsense_Mutation_p.K326*|MAPK10_uc003hpv.2_Nonsense_Mutation_p.K181*|MAPK10_uc003hpn.2_Nonsense_Mutation_p.K74*|MAPK10_uc003hpo.2_Nonsense_Mutation_p.K181*|MAPK10_uc011ccw.1_Nonsense_Mutation_p.K212*|MAPK10_uc003hpp.2_Nonsense_Mutation_p.K181*	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	326	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)						300				0.210526	7.88843	9.362788	4	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86988935	86988935	9655	4	T	A	A	A	793	61	MAPK10	5	3
PTPN13	5783	broad.mit.edu	37	4	87703391	87703391	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87703391C>T	uc003hpy.2	+	c.6015C>T	c.(6013-6015)CTC>CTT	p.L2005L	PTPN13_uc003hpz.2_Silent_p.L2000L|PTPN13_uc003hqa.2_Silent_p.L1981L|PTPN13_uc003hqb.2_Silent_p.L1809L|PTPN13_uc003hqc.1_Silent_p.L366L	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2000						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.297872	38.430115	40.147597	14	33	KEEP	---	---	---	---	capture		Silent	SNP	87703391	87703391	13237	4	C	T	T	T	366	29	PTPN13	2	2
DSPP	1834	broad.mit.edu	37	4	88535154	88535154	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88535154G>T	uc003hqu.2	+	c.1340G>T	c.(1339-1341)AGT>ATT	p.S447I		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	447	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)										0.395833	56.913154	57.369442	19	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88535154	88535154	4966	4	G	T	T	T	468	36	DSPP	2	2
ABCG2	9429	broad.mit.edu	37	4	89052258	89052258	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89052258G>A	uc003hrg.2	-	c.486C>T	c.(484-486)AAC>AAT	p.N162N	ABCG2_uc003hrh.2_Silent_p.N162N|ABCG2_uc003hrf.2_Silent_p.N32N	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	162	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)									0.243697	69.214007	76.340477	29	90	KEEP	---	---	---	---	capture		Silent	SNP	89052258	89052258	70	4	G	A	A	A	620	48	ABCG2	2	2
GAK	2580	broad.mit.edu	37	4	891903	891903	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:891903C>A	uc003gbm.3	-	c.569G>T	c.(568-570)TGT>TTT	p.C190F	GAK_uc003gbn.3_Missense_Mutation_p.C111F|GAK_uc010ibk.1_Missense_Mutation_p.C84F|GAK_uc003gbl.3_Missense_Mutation_p.C54F	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	190	Protein kinase.				cell cycle|protein phosphorylation	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)	3				Colorectal(103;0.219)						679				0.418605	56.642872	56.891494	18	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	891903	891903	6459	4	C	A	A	A	221	17	GAK	2	2
HERC3	8916	broad.mit.edu	37	4	89576324	89576324	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89576324G>C	uc003hrw.1	+	c.778_splice	c.e8-1	p.S260_splice	HERC3_uc003hrv.2_Splice_Site_SNP_p.S260_splice|HERC3_uc011cdn.1_Splice_Site_SNP_p.S142_splice	NM_014606	NP_055421			hect domain and RLD 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000319)										0.307229	152.358115	157.860315	51	115	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	89576324	89576324	7342	4	G	C	C	C	429	33	HERC3	5	3
GRID2	2895	broad.mit.edu	37	4	93511345	93511345	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:93511345T>A	uc011cdt.1	+	c.152T>A	c.(151-153)CTT>CAT	p.L51H	GRID2_uc010ikx.2_Missense_Mutation_p.L51H|GRID2_uc011cdu.1_Missense_Mutation_p.L51H	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	51	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.293103	45.048545	47.273446	17	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93511345	93511345	7050	4	T	A	A	A	728	56	GRID2	3	3
PDHA2	5161	broad.mit.edu	37	4	96762259	96762259	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96762259G>T	uc003htr.3	+	c.958G>T	c.(958-960)GAT>TAT	p.D320Y		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	320					glycolysis|oxidation-reduction process	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)									0.37931	60.733252	61.475384	22	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96762259	96762259	12086	4	G	T	T	T	429	33	PDHA2	2	2
YTHDC2	64848	broad.mit.edu	37	5	112889669	112889669	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112889669A>C	uc003kqn.2	+	c.2083A>C	c.(2083-2085)ATC>CTC	p.I695L	YTHDC2_uc010jce.1_Missense_Mutation_p.I695L|YTHDC2_uc010jcf.1_Missense_Mutation_p.I395L	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	695	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			central_nervous_system(1)	1		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)										0.551724	58.603949	58.671555	16	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112889669	112889669	18080	5	A	C	C	C	104	8	YTHDC2	4	4
SEMA6A	57556	broad.mit.edu	37	5	115823880	115823880	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115823880A>T	uc003krx.3	-	c.668T>A	c.(667-669)GTT>GAT	p.V223D	SEMA6A_uc010jck.2_Missense_Mutation_p.V223D	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	223	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)										0.631579	37.803323	38.092259	12	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115823880	115823880	14525	5	A	T	T	T	26	2	SEMA6A	3	3
CSNK1G3	1456	broad.mit.edu	37	5	122923771	122923771	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:122923771G>C	uc003ktl.2	+	c.683G>C	c.(682-684)AGA>ACA	p.R228T	CSNK1G3_uc003ktm.2_Missense_Mutation_p.R228T|CSNK1G3_uc003ktn.2_Missense_Mutation_p.R228T|CSNK1G3_uc003kto.2_Missense_Mutation_p.R228T|CSNK1G3_uc011cwr.1_Missense_Mutation_p.R153T|CSNK1G3_uc011cws.1_Missense_Mutation_p.R115T|CSNK1G3_uc010jda.2_Missense_Mutation_p.R228T	NM_001044723	NP_001038188	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 4	228	Protein kinase.				protein phosphorylation|Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		Pancreas(187;2868 2964 4353 6297)				172				0.263158	14.266424	15.230193	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122923771	122923771	4097	5	G	C	C	C	429	33	CSNK1G3	3	3
SLC27A6	28965	broad.mit.edu	37	5	128362870	128362870	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128362870T>A	uc003kuy.2	+	c.1300T>A	c.(1300-1302)TTC>ATC	p.F434I	SLC27A6_uc003kuz.2_Missense_Mutation_p.F434I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	434					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)										0.236842	44.710459	49.521501	18	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128362870	128362870	15027	5	T	A	A	A	728	56	SLC27A6	3	3
TIFAB	497189	broad.mit.edu	37	5	134785501	134785501	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134785501G>T	uc003law.3	-	c.129C>A	c.(127-129)GAC>GAA	p.D43E	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	43	FHA.										0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.272727	16.242993	17.265532	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134785501	134785501	16423	5	G	T	T	T	516	40	TIFAB	1	1
PKD2L2	27039	broad.mit.edu	37	5	137259145	137259145	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137259145G>A	uc003lby.2	+	c.1486G>A	c.(1486-1488)GAA>AAA	p.E496K	PKD2L2_uc003lbw.1_Missense_Mutation_p.E496K|PKD2L2_uc003lbx.2_Missense_Mutation_p.E395K|PKD2L2_uc011cyi.1_Missense_Mutation_p.E104K	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	496	Cytoplasmic (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.30303	26.435962	27.579627	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137259145	137259145	12393	5	G	A	A	A	585	45	PKD2L2	2	2
DNAH5	1767	broad.mit.edu	37	5	13735346	13735346	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13735346T>A	uc003jfd.2	-	c.11655A>T	c.(11653-11655)CGA>CGT	p.R3885R	DNAH5_uc003jfc.2_Silent_p.R53R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3885					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.080645	-0.476072	10.643691	5	57	KEEP	---	---	---	---	capture		Silent	SNP	13735346	13735346	4787	5	T	A	A	A	691	54	DNAH5	3	3
PCDHA1	56147	broad.mit.edu	37	5	140167894	140167894	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140167894C>T	uc003lhb.2	+	c.2019C>T	c.(2017-2019)GGC>GGT	p.G673G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.G673G	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	673	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.304348	16.914789	17.701531	7	16	KEEP	---	---	---	---	capture		Silent	SNP	140167894	140167894	11939	5	C	T	T	T	327	26	PCDHA1	2	2
PCDHA3	56145	broad.mit.edu	37	5	140182308	140182308	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140182308C>A	uc003lhf.2	+	c.1526C>A	c.(1525-1527)TCG>TAG	p.S509*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Nonsense_Mutation_p.S509*	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	509	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.666667	46.35639	46.873221	14	7	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140182308	140182308	11945	5	C	A	A	A	403	31	PCDHA3	5	1
PCDHB2	56133	broad.mit.edu	37	5	140475971	140475971	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140475971G>T	uc003lil.2	+	c.1597G>T	c.(1597-1599)GTG>TTG	p.V533L	PCDHB2_uc003lim.1_Missense_Mutation_p.V194L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	533	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.628571	71.055283	71.563113	22	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140475971	140475971	11962	5	G	T	T	T	520	40	PCDHB2	1	1
PCDHB3	56132	broad.mit.edu	37	5	140481977	140481977	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481977C>G	uc003lio.2	+	c.1744C>G	c.(1744-1746)CCG>GCG	p.P582A		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	582	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.681818	43.292615	43.898569	15	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140481977	140481977	11963	5	C	G	G	G	338	26	PCDHB3	3	3
PCDHB4	56131	broad.mit.edu	37	5	140503688	140503688	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140503688C>G	uc003lip.1	+	c.2108C>G	c.(2107-2109)TCG>TGG	p.S703W		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	703	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.378788	79.065093	79.913527	25	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140503688	140503688	11964	5	C	G	G	G	403	31	PCDHB4	3	3
PCDHB7	56129	broad.mit.edu	37	5	140554119	140554119	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140554119G>T	uc003lit.2	+	c.1703G>T	c.(1702-1704)AGC>ATC	p.S568I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	568	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.5	20.824714	20.824714	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140554119	140554119	11967	5	G	T	T	T	442	34	PCDHB7	2	2
PCDHGA4	56111	broad.mit.edu	37	5	140736567	140736567	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140736567G>C	uc003ljq.1	+	c.1800G>C	c.(1798-1800)CAG>CAC	p.Q600H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q600H	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	600	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.46	78.32291	78.392251	23	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140736567	140736567	11976	5	G	C	C	C	425	33	PCDHGA4	3	3
GPR151	134391	broad.mit.edu	37	5	145895361	145895361	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145895361G>T	uc003lod.1	-	c.316C>A	c.(316-318)CTA>ATA	p.L106I		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	106	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			Pancreas(78;420 1386 18535 37114 49710)								0.52	39.081618	39.091046	13	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145895361	145895361	6932	5	G	T	T	T	425	33	GPR151	2	2
AFAP1L1	134265	broad.mit.edu	37	5	148679077	148679077	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148679077G>C	uc003lqh.2	+	c.22G>C	c.(22-24)GAG>CAG	p.E8Q	AFAP1L1_uc003lqg.3_Missense_Mutation_p.E8Q|AFAP1L1_uc010jgy.2_Missense_Mutation_p.E8Q	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	8							protein binding	p.E8K(1)		breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.642857	93.94052	94.69905	27	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148679077	148679077	355	5	G	C	C	C	533	41	AFAP1L1	3	3
SLC36A3	285641	broad.mit.edu	37	5	150682854	150682854	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150682854G>T	uc003ltx.2	-	c.62C>A	c.(61-63)TCA>TAA	p.S21*	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltw.2_Nonsense_Mutation_p.S21*	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 1	21	Cytoplasmic (Potential).|Poly-Ser.					integral to membrane				ovary(2)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.680851	102.812574	104.177847	32	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150682854	150682854	15092	5	G	T	T	T	585	45	SLC36A3	5	2
TIMD4	91937	broad.mit.edu	37	5	156353300	156353300	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156353300G>T	uc003lwh.2	-	c.868C>A	c.(868-870)CAG>AAG	p.Q290K	TIMD4_uc010jii.2_Missense_Mutation_p.Q262K|TIMD4_uc003lwg.2_5'UTR	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	290	Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.263158	13.065606	14.029997	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156353300	156353300	16432	5	G	T	T	T	598	46	TIMD4	2	2
FAM71B	153745	broad.mit.edu	37	5	156590429	156590429	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156590429C>A	uc003lwn.2	-	c.847G>T	c.(847-849)GCA>TCA	p.A283S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	283	Ala-rich.					nucleus				ovary(3)|pancreas(1)	4	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.37037	55.272054	56.073859	20	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156590429	156590429	5831	5	C	A	A	A	338	26	FAM71B	2	2
LSM11	134353	broad.mit.edu	37	5	157178528	157178528	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:157178528C>A	uc003lxe.1	+	c.579C>A	c.(577-579)TTC>TTA	p.F193L		NM_173491	NP_775762	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	193	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.338028	60.844541	62.508026	24	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157178528	157178528	9428	5	C	A	A	A	415	32	LSM11	2	2
EBF1	1879	broad.mit.edu	37	5	158250217	158250217	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:158250217G>T	uc011ddx.1	-	c.745C>A	c.(745-747)CCC>ACC	p.P249T	EBF1_uc011ddw.1_Missense_Mutation_p.P116T|EBF1_uc010jip.2_Missense_Mutation_p.P249T|EBF1_uc003lxl.3_Missense_Mutation_p.P226T	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	249					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.264706	20.447565	22.159869	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158250217	158250217	5066	5	G	T	T	T	559	43	EBF1	2	2
GABRA6	2559	broad.mit.edu	37	5	161116293	161116293	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161116293G>T	uc003lyu.2	+	c.480G>T	c.(478-480)CTG>CTT	p.L160L	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	160	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.12	7.413148	14.497849	6	44	KEEP	---	---	---	---	capture		Silent	SNP	161116293	161116293	6416	5	G	T	T	T	600	47	GABRA6	2	2
SLIT3	6586	broad.mit.edu	37	5	168180884	168180884	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168180884C>A	uc010jjg.2	-	c.1814G>T	c.(1813-1815)AGT>ATT	p.S605I	SLIT3_uc003mab.2_Missense_Mutation_p.S605I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	605					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.209302	20.849695	24.214327	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168180884	168180884	15239	5	C	A	A	A	260	20	SLIT3	2	2
GABRP	2568	broad.mit.edu	37	5	170222221	170222221	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170222221G>T	uc003mau.2	+	c.250G>T	c.(250-252)GCC>TCC	p.A84S	GABRP_uc011dev.1_Missense_Mutation_p.A84S	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	84	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.405405	168.35956	169.519811	60	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170222221	170222221	6425	5	G	T	T	T	442	34	GABRP	2	2
EIF4E1B	253314	broad.mit.edu	37	5	176072392	176072392	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176072392C>T	uc010jkf.1	+	c.489C>T	c.(487-489)ATC>ATT	p.I163I	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.2_5'Flank|TSPAN17_uc003meu.2_5'Flank|TSPAN17_uc003mev.2_5'Flank|TSPAN17_uc003mew.2_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	163	EIF4EBP1/2/3 binding (By similarity).				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.3	17.143431	17.857456	6	14	KEEP	---	---	---	---	capture		Silent	SNP	176072392	176072392	5220	5	C	T	T	T	395	31	EIF4E1B	1	1
SQSTM1	8878	broad.mit.edu	37	5	179250038	179250038	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179250038C>T	uc003mkw.3	+	c.286C>T	c.(286-288)CGA>TGA	p.R96*	SQSTM1_uc011dgr.1_Nonsense_Mutation_p.R12*|SQSTM1_uc011dgs.1_Nonsense_Mutation_p.R12*|SQSTM1_uc003mkv.3_Nonsense_Mutation_p.R96*|SQSTM1_uc003mkx.2_Nonsense_Mutation_p.R12*	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	96	OPR.|Interaction with PRKCZ and dimerization (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.9	31.801688	32.882556	9	1	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	179250038	179250038	15644	5	C	T	T	T	295	23	SQSTM1	5	1
TBC1D9B	23061	broad.mit.edu	37	5	179320367	179320367	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179320367G>A	uc003mlh.2	-	c.678C>T	c.(676-678)CTC>CTT	p.L226L	TBC1D9B_uc003mli.2_Silent_p.L226L|TBC1D9B_uc003mlj.2_Silent_p.L226L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	226						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)	1	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.457143	49.99586	50.051887	16	19	KEEP	---	---	---	---	capture		Silent	SNP	179320367	179320367	16154	5	G	A	A	A	418	33	TBC1D9B	2	2
CDH12	1010	broad.mit.edu	37	5	21783589	21783589	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21783589C>G	uc010iuc.2	-	c.1271G>C	c.(1270-1272)TGG>TCG	p.W424S	CDH12_uc011cno.1_Missense_Mutation_p.W384S|CDH12_uc003jgk.2_Missense_Mutation_p.W424S	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	424	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.658333	269.052796	271.708921	79	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21783589	21783589	3227	5	C	G	G	G	273	21	CDH12	3	3
CDH12	1010	broad.mit.edu	37	5	21842303	21842303	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21842303C>A	uc010iuc.2	-	c.781G>T	c.(781-783)GAT>TAT	p.D261Y	CDH12_uc011cno.1_Missense_Mutation_p.D221Y|CDH12_uc003jgk.2_Missense_Mutation_p.D261Y	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	261	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.192857	58.144745	70.478229	27	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21842303	21842303	3227	5	C	A	A	A	403	31	CDH12	1	1
CDH9	1007	broad.mit.edu	37	5	26890029	26890029	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26890029G>A	uc003jgs.1	-	c.1428C>T	c.(1426-1428)ATC>ATT	p.I476I	CDH9_uc011cnv.1_Silent_p.I69I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	476	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.1	2.775504	9.164553	4	36	KEEP	---	---	---	---	capture		Silent	SNP	26890029	26890029	3246	5	G	A	A	A	577	45	CDH9	2	2
CDH9	1007	broad.mit.edu	37	5	26903796	26903796	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26903796C>G	uc003jgs.1	-	c.949G>C	c.(949-951)GAT>CAT	p.D317H	CDH9_uc010iug.2_Missense_Mutation_p.D317H	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	317	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.52381	307.209771	307.292835	88	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26903796	26903796	3246	5	C	G	G	G	403	31	CDH9	3	3
ADAMTS12	81792	broad.mit.edu	37	5	33637734	33637734	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33637734G>T	uc003jia.1	-	c.1836C>A	c.(1834-1836)GAC>GAA	p.D612E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D612E	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	612	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.112782	17.759694	37.418362	15	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33637734	33637734	258	5	G	T	T	T	620	48	ADAMTS12	2	2
SPEF2	79925	broad.mit.edu	37	5	35759755	35759755	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35759755A>G	uc003jjo.2	+	c.3554A>G	c.(3553-3555)AAC>AGC	p.N1185S	SPEF2_uc003jjp.1_Missense_Mutation_p.N671S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1185					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.719807	541.962772	550.956068	149	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35759755	35759755	15547	5	A	G	G	G	26	2	SPEF2	4	4
SPEF2	79925	broad.mit.edu	37	5	35806854	35806854	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35806854G>A	uc003jjo.2	+	c.5056G>A	c.(5056-5058)GAG>AAG	p.E1686K	SPEF2_uc003jjp.1_Missense_Mutation_p.E1172K|SPEF2_uc003jjr.2_Missense_Mutation_p.E741K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1686	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.42029	87.061085	87.444165	29	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35806854	35806854	15547	5	G	A	A	A	585	45	SPEF2	2	2
UGT3A1	133688	broad.mit.edu	37	5	35965558	35965558	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35965558G>T	uc003jjv.1	-	c.773C>A	c.(772-774)GCC>GAC	p.A258D	UGT3A1_uc003jjw.1_Non-coding_Transcript|UGT3A1_uc011coq.1_Missense_Mutation_p.A258D|UGT3A1_uc011cor.1_Missense_Mutation_p.A224D|UGT3A1_uc003jjy.1_Missense_Mutation_p.A204D	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	258	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.713178	293.140748	298.395361	92	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35965558	35965558	17521	5	G	T	T	T	546	42	UGT3A1	2	2
C5orf42	65250	broad.mit.edu	37	5	37169220	37169220	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37169220C>A	uc011cpa.1	-	c.6906G>T	c.(6904-6906)ACG>ACT	p.T2302T	C5orf42_uc011coy.1_Silent_p.T802T|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.T1377T|C5orf42_uc003jkr.1_Silent_p.T335T	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	1215										ovary(4)|breast(2)	6	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)											0.130435	19.451908	31.660342	12	80	KEEP	---	---	---	---	capture		Silent	SNP	37169220	37169220	2399	5	C	A	A	A	236	19	C5orf42	1	1
EGFLAM	133584	broad.mit.edu	37	5	38427131	38427131	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38427131C>T	uc003jlc.1	+	c.1831C>T	c.(1831-1833)CAG>TAG	p.Q611*	EGFLAM_uc003jlb.1_Nonsense_Mutation_p.Q611*|EGFLAM_uc003jle.1_Nonsense_Mutation_p.Q377*|EGFLAM_uc003jlf.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	611	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.625731	334.469061	336.822316	107	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38427131	38427131	5155	5	C	T	T	T	377	29	EGFLAM	5	2
DAB2	1601	broad.mit.edu	37	5	39376943	39376943	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39376943T>A	uc003jlx.2	-	c.1946A>T	c.(1945-1947)AAG>ATG	p.K649M	DAB2_uc003jlw.2_Missense_Mutation_p.K628M	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	649	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)									OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.451613	87.292402	87.418877	28	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39376943	39376943	4384	5	T	A	A	A	728	56	DAB2	3	3
DAB2	1601	broad.mit.edu	37	5	39392565	39392565	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39392565C>T	uc003jlx.2	-	c.232G>A	c.(232-234)GGA>AGA	p.G78R	DAB2_uc003jlw.2_Missense_Mutation_p.G78R	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	78	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)											0.285714	27.834985	29.277469	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39392565	39392565	4384	5	C	T	T	T	286	22	DAB2	2	2
HEATR7B2	133558	broad.mit.edu	37	5	40999795	40999795	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40999795T>A	uc003jmj.3	-	c.4569A>T	c.(4567-4569)GCA>GCT	p.A1523A	HEATR7B2_uc003jmi.3_Silent_p.A1078A	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1523							binding			ovary(6)|central_nervous_system(2)	8														0.472441	192.695944	192.779347	60	67	KEEP	---	---	---	---	capture		Silent	SNP	40999795	40999795	7318	5	T	A	A	A	704	55	HEATR7B2	3	3
HEATR7B2	133558	broad.mit.edu	37	5	41019047	41019047	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41019047G>T	uc003jmj.3	-	c.2515C>A	c.(2515-2517)CTT>ATT	p.L839I	HEATR7B2_uc003jmi.3_Missense_Mutation_p.L394I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	839							binding			ovary(6)|central_nervous_system(2)	8														0.570093	186.180599	186.637787	61	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41019047	41019047	7318	5	G	T	T	T	455	35	HEATR7B2	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41055873	41055873	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41055873G>C	uc003jmj.3	-	c.1004C>G	c.(1003-1005)ACT>AGT	p.T335S	HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	335	HEAT 4.						binding			ovary(6)|central_nervous_system(2)	8														0.463636	166.672551	166.802293	51	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41055873	41055873	7318	5	G	C	C	C	468	36	HEATR7B2	3	3
HCN1	348980	broad.mit.edu	37	5	45262060	45262060	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45262060G>C	uc003jok.2	-	c.2636C>G	c.(2635-2637)CCA>CGA	p.P879R		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	879	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.777778	229.978257	236.358344	70	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45262060	45262060	7278	5	G	C	C	C	611	47	HCN1	3	3
ITGA1	3672	broad.mit.edu	37	5	52201708	52201708	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52201708C>A	uc003jou.2	+	c.1425C>A	c.(1423-1425)ATC>ATA	p.I475I	ITGA1_uc003jov.2_Non-coding_Transcript|ITGA1_uc003jow.2_Silent_p.I6I	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	475	FG-GAP 4.|Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(1)|lung(1)	2		Lung NSC(810;5.05e-05)|Breast(144;0.0851)												0.236364	32.747138	36.241606	13	42	KEEP	---	---	---	---	capture		Silent	SNP	52201708	52201708	8176	5	C	A	A	A	369	29	ITGA1	2	2
MIER3	166968	broad.mit.edu	37	5	56229127	56229127	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:56229127C>T	uc003jrc.1	-	c.709G>A	c.(709-711)GAA>AAA	p.E237K	MIER3_uc003jqz.1_Missense_Mutation_p.E169K|MIER3_uc003jra.1_Missense_Mutation_p.E232K|MIER3_uc003jrb.1_Missense_Mutation_p.E56K|MIER3_uc003jrd.1_Missense_Mutation_p.E232K	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	232	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)										0.265625	40.85787	44.027842	17	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56229127	56229127	9972	5	C	T	T	T	377	29	MIER3	2	2
GPBP1	65056	broad.mit.edu	37	5	56558438	56558438	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:56558438G>A	uc010iwg.2	+	c.1341G>A	c.(1339-1341)CTG>CTA	p.L447L	GPBP1_uc003jrh.3_Silent_p.L427L|GPBP1_uc003jri.3_Silent_p.L256L|GPBP1_uc003jrj.3_Silent_p.L419L|GPBP1_uc003jrk.3_Silent_p.L434L|GPBP1_uc003jrl.3_Non-coding_Transcript	NM_001127235	NP_001120707	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 2	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)										0.212121	15.905387	18.434563	7	26	KEEP	---	---	---	---	capture		Silent	SNP	56558438	56558438	6869	5	G	A	A	A	574	45	GPBP1	2	2
MAP1B	4131	broad.mit.edu	37	5	71492222	71492222	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71492222G>A	uc003kbw.3	+	c.3040G>A	c.(3040-3042)GAA>AAA	p.E1014K	MAP1B_uc010iyw.1_Missense_Mutation_p.E1031K|MAP1B_uc010iyx.1_Missense_Mutation_p.E888K|MAP1B_uc010iyy.1_Missense_Mutation_p.E888K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1014						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		Melanoma(17;367 822 11631 31730 47712)								0.199005	83.988113	100.935252	40	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71492222	71492222	9611	5	G	A	A	A	585	45	MAP1B	2	2
MAP1B	4131	broad.mit.edu	37	5	71493326	71493326	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71493326G>A	uc003kbw.3	+	c.4144G>A	c.(4144-4146)GAG>AAG	p.E1382K	MAP1B_uc010iyw.1_Missense_Mutation_p.E1399K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1256K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1256K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1382						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		Melanoma(17;367 822 11631 31730 47712)								0.320312	110.824665	114.499191	41	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71493326	71493326	9611	5	G	A	A	A	585	45	MAP1B	2	2
POC5	134359	broad.mit.edu	37	5	74970315	74970315	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74970315C>A	uc003keh.3	-	c.1673G>T	c.(1672-1674)AGA>ATA	p.R558I	POC5_uc010izu.2_Missense_Mutation_p.R382I|POC5_uc003keg.3_Missense_Mutation_p.R533I	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	558					cell cycle	centriole				lung(1)	1														0.305263	152.179912	158.60663	58	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74970315	74970315	12605	5	C	A	A	A	416	32	POC5	2	2
F2RL2	2151	broad.mit.edu	37	5	75914407	75914407	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75914407C>T	uc003kem.2	-	c.125G>A	c.(124-126)GGA>GAA	p.G42E	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.G20E	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	42	Extracellular (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)										0.076923	-1.571386	19.825852	9	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75914407	75914407	5539	5	C	T	T	T	390	30	F2RL2	2	2
ADCY2	108	broad.mit.edu	37	5	7743815	7743815	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7743815T>C	uc003jdz.1	+	c.1906T>C	c.(1906-1908)TTT>CTT	p.F636L	ADCY2_uc011cmo.1_Missense_Mutation_p.F456L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	636	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to 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														0.037778	-72.282968	32.014243	17	433	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7743815	7743815	295	5	T	C	C	C	780	60	ADCY2	4	4
PAPD4	167153	broad.mit.edu	37	5	78915546	78915546	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78915546G>C	uc010jae.1	+	c.75G>C	c.(73-75)CTG>CTC	p.L25L	PAPD4_uc003kgb.2_Silent_p.L25L|PAPD4_uc010jaf.1_Silent_p.L25L|PAPD4_uc003kga.2_Silent_p.L25L|PAPD4_uc003kfz.2_Silent_p.L25L	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	25					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm|nuclear RNA-directed RNA polymerase complex	ATP binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)										0.186047	17.343723	21.365073	8	35	KEEP	---	---	---	---	capture		Silent	SNP	78915546	78915546	11841	5	G	C	C	C	613	48	PAPD4	3	3
RASGRF2	5924	broad.mit.edu	37	5	80381625	80381625	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80381625C>G	uc003kha.1	+	c.1166C>G	c.(1165-1167)CCC>CGC	p.P389R	RASGRF2_uc011ctn.1_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.P217R	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	389	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)						847				0.483516	122.65051	122.673253	44	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80381625	80381625	13534	5	C	G	G	G	286	22	RASGRF2	3	3
VCAN	1462	broad.mit.edu	37	5	82833747	82833747	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82833747C>A	uc003kii.3	+	c.4925C>A	c.(4924-4926)TCT>TAT	p.S1642Y	VCAN_uc003kij.3_Missense_Mutation_p.S655Y|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S306Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1642	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.327869	54.677186	56.280922	20	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82833747	82833747	17703	5	C	A	A	A	416	32	VCAN	2	2
VCAN	1462	broad.mit.edu	37	5	82834082	82834082	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82834082T>A	uc003kii.3	+	c.5260T>A	c.(5260-5262)TTT>ATT	p.F1754I	VCAN_uc003kij.3_Missense_Mutation_p.F767I|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.F418I	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1754	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.258065	42.081035	45.362949	16	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82834082	82834082	17703	5	T	A	A	A	728	56	VCAN	3	3
GRIK2	2898	broad.mit.edu	37	6	102372530	102372530	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102372530G>A	uc003pqp.3	+	c.1803G>A	c.(1801-1803)GTG>GTA	p.V601V	GRIK2_uc003pqo.3_Silent_p.V601V|GRIK2_uc010kcw.2_Silent_p.V601V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	601	Cytoplasmic (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)									0.047619	-8.87201	9.427156	4	80	KEEP	---	---	---	---	capture		Silent	SNP	102372530	102372530	7053	6	G	A	A	A	600	47	GRIK2	2	2
HACE1	57531	broad.mit.edu	37	6	105219187	105219187	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:105219187C>T	uc003pqu.1	-	c.2092G>A	c.(2092-2094)GAT>AAT	p.D698N	HACE1_uc010kcy.1_Missense_Mutation_p.D180N|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Missense_Mutation_p.D107N|HACE1_uc003pqt.1_Missense_Mutation_p.D351N	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	698	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(1)	6		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)										0.310345	24.363224	25.292985	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105219187	105219187	7222	6	C	T	T	T	377	29	HACE1	2	2
LIN28B	389421	broad.mit.edu	37	6	105526482	105526482	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:105526482C>G	uc003pqv.1	+	c.577C>G	c.(577-579)CGA>GGA	p.R193G	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	193					miRNA catabolic process|pre-microRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)												0.53125	58.577362	58.604622	17	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105526482	105526482	9133	6	C	G	G	G	399	31	LIN28B	3	3
PAK1IP1	55003	broad.mit.edu	37	6	10709681	10709681	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:10709681A>T	uc003mzg.2	+	c.1175A>T	c.(1174-1176)CAG>CTG	p.Q392L		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	392					negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)												0.472222	107.242048	107.290585	34	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10709681	10709681	11816	6	A	T	T	T	91	7	PAK1IP1	3	3
MICAL1	64780	broad.mit.edu	37	6	109771184	109771184	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:109771184C>G	uc011eaq.1	-	c.1353G>C	c.(1351-1353)GTG>GTC	p.V451V	MICAL1_uc003ptj.2_Silent_p.V432V|MICAL1_uc003ptk.2_Silent_p.V432V|MICAL1_uc010kdr.2_Silent_p.V346V	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	432					cytoskeleton organization|oxidation-reduction process|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)										0.672414	141.245176	142.773795	39	19	KEEP	---	---	---	---	capture		Silent	SNP	109771184	109771184	9959	6	C	G	G	G	210	17	MICAL1	3	3
SLC22A16	85413	broad.mit.edu	37	6	110752467	110752467	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110752467C>A	uc003puf.2	-	c.1428G>T	c.(1426-1428)CTG>CTT	p.L476L	SLC22A16_uc003pue.2_Silent_p.L457L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	476	Helical; (Potential).				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane|plasma membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)										0.860465	127.303628	132.699635	37	6	KEEP	---	---	---	---	capture		Silent	SNP	110752467	110752467	14943	6	C	A	A	A	262	21	SLC22A16	2	2
LAMA4	3910	broad.mit.edu	37	6	112463444	112463444	+	Silent	SNP	C	A	A	rs111587919		TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112463444C>A	uc003pvu.2	-	c.2544G>T	c.(2542-2544)TCG>TCT	p.S848S	LAMA4_uc003pvv.2_Silent_p.S841S|LAMA4_uc003pvt.2_Silent_p.S841S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	848	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.566667	52.812415	52.938869	17	13	KEEP	---	---	---	---	capture		Silent	SNP	112463444	112463444	8931	6	C	A	A	A	392	31	LAMA4	1	1
TSPYL1	7259	broad.mit.edu	37	6	116600261	116600261	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116600261G>C	uc003pwp.3	-	c.733C>G	c.(733-735)CAG>GAG	p.Q245E	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	245					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)										0.171429	14.128154	17.69957	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116600261	116600261	17212	6	G	C	C	C	585	45	TSPYL1	3	3
DSE	29940	broad.mit.edu	37	6	116752188	116752188	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116752188A>T	uc011ebg.1	+	c.799A>T	c.(799-801)AGG>TGG	p.R267W	DSE_uc003pws.2_Missense_Mutation_p.R248W|DSE_uc003pwt.2_Missense_Mutation_p.R248W|DSE_uc003pwu.2_5'Flank	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	248					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)										0.291667	20.415284	21.348278	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116752188	116752188	4958	6	A	T	T	T	88	7	DSE	3	3
SMPDL3A	10924	broad.mit.edu	37	6	123126143	123126143	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123126143A>T	uc003pzg.2	+	c.828A>T	c.(826-828)ATA>ATT	p.I276I	SMPDL3A_uc003pzh.2_Silent_p.I145I	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	acid sphingomyelinase-like phosphodiesterase 3A	276					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity				0				GBM - Glioblastoma multiforme(226;0.236)										0.72093	101.8394	103.725914	31	12	KEEP	---	---	---	---	capture		Silent	SNP	123126143	123126143	15308	6	A	T	T	T	189	15	SMPDL3A	3	3
ENPP3	5169	broad.mit.edu	37	6	131995303	131995303	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:131995303G>T	uc003qcu.3	+	c.644G>T	c.(643-645)GGC>GTC	p.G215V	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.G181V|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc010kfq.2_Non-coding_Transcript|ENPP3_uc003qcv.2_Missense_Mutation_p.G215V	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	215	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)										0.75	37.906194	38.81463	12	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131995303	131995303	5324	6	G	T	T	T	546	42	ENPP3	2	2
REPS1	85021	broad.mit.edu	37	6	139233926	139233926	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139233926G>A	uc003qii.2	-	c.1947C>T	c.(1945-1947)GCC>GCT	p.A649A	REPS1_uc003qig.3_Silent_p.A622A|REPS1_uc011edr.1_Silent_p.A648A|REPS1_uc003qij.2_Silent_p.A558A|REPS1_uc003qik.2_Silent_p.A255A	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	649						coated pit|plasma membrane	calcium ion binding|SH3 domain binding				0				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)										0.373134	75.458089	76.40498	25	42	KEEP	---	---	---	---	capture		Silent	SNP	139233926	139233926	13697	6	G	A	A	A	496	39	REPS1	1	1
UTRN	7402	broad.mit.edu	37	6	145021222	145021222	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:145021222G>T	uc003qkt.2	+	c.7653_splice	c.e52-1	p.R2551_splice		NM_007124	NP_009055			utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)										0.733333	36.331036	37.0683	11	4	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	145021222	145021222	17668	6	G	T	T	T	455	35	UTRN	5	2
SYNE1	23345	broad.mit.edu	37	6	152749376	152749376	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152749376T>A	uc010kiw.2	-	c.4940A>T	c.(4939-4941)CAG>CTG	p.Q1647L	SYNE1_uc003qot.3_Missense_Mutation_p.Q1654L|SYNE1_uc003qou.3_Missense_Mutation_p.Q1647L|SYNE1_uc010kjb.1_Missense_Mutation_p.Q1630L|SYNE1_uc003qow.2_Missense_Mutation_p.Q942L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1647	Spectrin 1.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.663158	209.025177	211.25494	63	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152749376	152749376	15966	6	T	A	A	A	715	55	SYNE1	3	3
TMEM181	57583	broad.mit.edu	37	6	159006389	159006389	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159006389C>G	uc003qrm.3	+	c.724C>G	c.(724-726)CAA>GAA	p.Q242E	TMEM181_uc010kjr.1_Missense_Mutation_p.Q73E|TMEM181_uc003qri.1_Missense_Mutation_p.Q99E|TMEM181_uc003qrj.1_Missense_Mutation_p.Q99E|TMEM181_uc003qrk.1_Missense_Mutation_p.Q123E	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	242					pathogenesis	integral to membrane	toxin binding			ovary(2)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)										0.258065	20.985715	22.63013	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159006389	159006389	16634	6	C	G	G	G	377	29	TMEM181	3	3
LPA	4018	broad.mit.edu	37	6	161027641	161027641	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161027641A>G	uc003qtl.2	-	c.2653T>C	c.(2653-2655)TAT>CAT	p.Y885H		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3393	Kringle 30.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.109489	20.734658	41.408739	15	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161027641	161027641	9276	6	A	G	G	G	169	13	LPA	4	4
C6orf118	168090	broad.mit.edu	37	6	165715741	165715741	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165715741G>T	uc003qum.3	-	c.70C>A	c.(70-72)CTG>ATG	p.L24M	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	24											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)										0.2	19.757547	23.518326	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165715741	165715741	2425	6	G	T	T	T	451	35	C6orf118	2	2
T	6862	broad.mit.edu	37	6	166571813	166571813	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:166571813G>T	uc003qut.1	-	c.1301C>A	c.(1300-1302)CCT>CAT	p.P434H	T_uc003quu.1_Missense_Mutation_p.P433H|T_uc003quv.1_Missense_Mutation_p.P375H	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	433					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)										0.135593	11.556288	19.151287	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166571813	166571813	16009	6	G	T	T	T	455	35	T	2	2
SOX4	6659	broad.mit.edu	37	6	21596142	21596142	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:21596142G>T	uc003ndi.2	+	c.1377G>T	c.(1375-1377)TCG>TCT	p.S459S		NM_003107	NP_003098	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	459					canonical Wnt receptor signaling pathway|heart development|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|pro-B cell differentiation|protein stabilization|T cell differentiation	mitochondrion|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)											0.5	9.425382	9.425382	3	3	KEEP	---	---	---	---	capture		Silent	SNP	21596142	21596142	15453	6	G	T	T	T	496	39	SOX4	1	1
HIST1H3C	8352	broad.mit.edu	37	6	26045641	26045641	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26045641G>T	uc003nfv.2	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	1					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1														0.535211	118.782535	118.863588	38	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26045641	26045641	7442	6	G	T	T	T	611	47	HIST1H3C	2	2
HIST1H3C	8352	broad.mit.edu	37	6	26045849	26045849	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26045849C>T	uc003nfv.2	+	c.211C>T	c.(211-213)CTG>TTG	p.L71L	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	71					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1														0.176471	26.357042	33.065781	12	56	KEEP	---	---	---	---	capture		Silent	SNP	26045849	26045849	7442	6	C	T	T	T	311	24	HIST1H3C	2	2
HIST1H1C	3006	broad.mit.edu	37	6	26056240	26056240	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26056240C>T	uc003nfw.2	-	c.417G>A	c.(415-417)AAG>AAA	p.K139K		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	139					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3														0.529412	55.135845	55.160474	18	16	KEEP	---	---	---	---	capture		Silent	SNP	26056240	26056240	7409	6	C	T	T	T	415	32	HIST1H1C	2	2
HIST1H4C	8364	broad.mit.edu	37	6	26104361	26104361	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26104361C>T	uc003ngi.2	+	c.186C>T	c.(184-186)TTC>TTT	p.F62F		NM_003542	NP_003533	P62805	H4_HUMAN	histone cluster 1, H4c	62					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0														0.08046	-0.346693	15.275988	7	80	KEEP	---	---	---	---	capture		Silent	SNP	26104361	26104361	7452	6	C	T	T	T	415	32	HIST1H4C	2	2
BTN2A2	10385	broad.mit.edu	37	6	26390243	26390243	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26390243G>T	uc003nhq.2	+	c.735G>T	c.(733-735)ATG>ATT	p.M245I	BTN2A2_uc011dkf.1_Missense_Mutation_p.M129I|BTN2A2_uc011dkg.1_Missense_Mutation_p.M151I|BTN2A2_uc003nhr.2_Missense_Mutation_p.M129I|BTN2A2_uc011dkh.1_Missense_Mutation_p.M35I|BTN2A2_uc003nhs.2_Missense_Mutation_p.M245I|BTN2A2_uc003nht.2_Missense_Mutation_p.M245I|BTN2A2_uc011dki.1_5'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	245	Extracellular (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0														0.432432	192.475879	193.065064	64	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26390243	26390243	1595	6	G	T	T	T	598	46	BTN2A2	2	2
BTN2A1	11120	broad.mit.edu	37	6	26468738	26468738	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26468738C>T	uc003nib.1	+	c.1545C>T	c.(1543-1545)GGC>GGT	p.G515G	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Silent_p.G363G|BTN2A1_uc011dko.1_Silent_p.G454G|BTN2A1_uc010jqk.1_Missense_Mutation_p.A243V	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	515	Cytoplasmic (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)	1														0.147059	21.648712	33.886481	15	87	KEEP	---	---	---	---	capture		Silent	SNP	26468738	26468738	1594	6	C	T	T	T	327	26	BTN2A1	2	2
HIST1H4L	8368	broad.mit.edu	37	6	27841084	27841084	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27841084C>T	uc003njz.2	-	c.205G>A	c.(205-207)GAT>AAT	p.D69N	HIST1H3I_uc003njy.2_5'Flank	NM_003546	NP_003537	P62805	H4_HUMAN	histone cluster 1, H4l	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|breast(1)	2														0.315789	100.697498	104.117717	36	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27841084	27841084	7461	6	C	T	T	T	403	31	HIST1H4L	1	1
ZNF323	64288	broad.mit.edu	37	6	28294414	28294414	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28294414C>G	uc003nla.2	-	c.750G>C	c.(748-750)AAG>AAC	p.K250N	ZNF323_uc003nld.2_Missense_Mutation_p.K250N|ZNF323_uc010jra.2_Missense_Mutation_p.K250N|ZNF323_uc003nlb.2_Missense_Mutation_p.K91N|ZNF323_uc010jrb.2_Missense_Mutation_p.K91N|ZNF323_uc003nlc.2_Missense_Mutation_p.K250N	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	250	C2H2-type 1.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						Colon(115;1052 1587 16954 47314 53012)								0.078947	0.987185	14.74966	6	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28294414	28294414	18435	6	C	G	G	G	415	32	ZNF323	3	3
OR2W1	26692	broad.mit.edu	37	6	29012467	29012467	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29012467G>A	uc003nlw.2	-	c.486C>T	c.(484-486)CTC>CTT	p.L162L		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.290909	81.839049	86.158865	32	78	KEEP	---	---	---	---	capture		Silent	SNP	29012467	29012467	11438	6	G	A	A	A	574	45	OR2W1	2	2
OR10C1	442194	broad.mit.edu	37	6	29408208	29408208	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29408208T>A	uc011dlp.1	+	c.416T>A	c.(415-417)GTG>GAG	p.V139E	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q6IFQ5	Q6IFQ5_HUMAN	olfactory receptor, family 10, subfamily C,	139						integral to membrane	olfactory receptor activity				0														0.575342	261.728076	262.455844	84	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29408208	29408208	11304	6	T	A	A	A	767	59	OR10C1	3	3
UBD	10537	broad.mit.edu	37	6	29524019	29524019	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29524019G>T	uc003nmo.2	-	c.136C>A	c.(136-138)CAG>AAG	p.Q46K	GABBR1_uc003nmp.3_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	ubiquitin D	46	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding				0														0.130952	14.567556	25.693495	11	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29524019	29524019	17400	6	G	T	T	T	598	46	UBD	2	2
OR2H2	7932	broad.mit.edu	37	6	29555742	29555742	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29555742A>G	uc003nmr.1	+	c.21A>G	c.(19-21)ACA>ACG	p.T7T	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	7	Extracellular (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.512821	408.557663	408.595735	140	133	KEEP	---	---	---	---	capture		Silent	SNP	29555742	29555742	11408	6	A	G	G	G	67	6	OR2H2	4	4
CCHCR1	54535	broad.mit.edu	37	6	31112687	31112687	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31112687G>A	uc003nsp.3	-	c.2040C>T	c.(2038-2040)ACC>ACT	p.T680T	CCHCR1_uc011dne.1_Silent_p.T591T|CCHCR1_uc003nsq.3_Silent_p.T644T|CCHCR1_uc003nsr.3_Silent_p.T591T|CCHCR1_uc010jsk.1_Silent_p.T591T	NM_001105564	NP_001099034	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	591	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding				0														0.384615	57.692473	58.297401	20	32	KEEP	---	---	---	---	capture		Silent	SNP	31112687	31112687	3002	6	G	A	A	A	548	43	CCHCR1	2	2
C6orf25	80739	broad.mit.edu	37	6	31692586	31692586	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31692586G>C	uc011doc.1	+	c.586G>C	c.(586-588)GAG>CAG	p.E196Q	C6orf25_uc003nwk.2_Missense_Mutation_p.R202T|C6orf25_uc011dod.1_Missense_Mutation_p.E152Q|C6orf25_uc011doe.1_Missense_Mutation_p.E172Q|C6orf25_uc003nwo.2_Missense_Mutation_p.R158T|C6orf25_uc003nwn.2_Missense_Mutation_p.R202T	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	196	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0														0.093426	18.512554	66.570384	27	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31692586	31692586	2465	6	G	C	C	C	429	33	C6orf25	3	3
TNXB	7148	broad.mit.edu	37	6	32023848	32023848	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32023848A>T	uc003nzl.2	-	c.8247T>A	c.(8245-8247)CCT>CCA	p.P2749P		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2807	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.681818	45.298135	45.934983	15	7	KEEP	---	---	---	---	capture		Silent	SNP	32023848	32023848	16887	6	A	T	T	T	80	7	TNXB	3	3
ATF6B	1388	broad.mit.edu	37	6	32084491	32084491	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32084491G>C	uc003nzn.2	-	c.1787C>G	c.(1786-1788)TCT>TGT	p.S596C	TNXB_uc010jts.1_5'UTR|ATF6B_uc003nzm.1_Missense_Mutation_p.S169C|ATF6B_uc003nzo.2_Missense_Mutation_p.S593C	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	596	Lumenal (Potential).				regulation of transcription, DNA-dependent|response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.150685	38.146039	55.230399	22	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32084491	32084491	1104	6	G	C	C	C	429	33	ATF6B	3	3
COL11A2	1302	broad.mit.edu	37	6	33131475	33131475	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33131475G>T	uc003ocx.1	-	c.5191C>A	c.(5191-5193)CCT>ACT	p.P1731T	COL11A2_uc010jul.1_Missense_Mutation_p.P301T|COL11A2_uc003ocy.1_Missense_Mutation_p.P1645T|COL11A2_uc003ocz.1_Missense_Mutation_p.P1624T	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1731	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.3375	73.034778	74.886585	27	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33131475	33131475	3806	6	G	T	T	T	546	42	COL11A2	2	2
COL11A2	1302	broad.mit.edu	37	6	33139547	33139547	+	Silent	SNP	C	T	T	rs61738289		TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33139547C>T	uc003ocx.1	-	c.3093G>A	c.(3091-3093)CCG>CCA	p.P1031P	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P945P|COL11A2_uc003ocz.1_Silent_p.P924P	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1031	Triple-helical region.			PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034).	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.285714	9.612824	10.178772	4	10	KEEP	---	---	---	---	capture		Silent	SNP	33139547	33139547	3806	6	C	T	T	T	340	27	COL11A2	1	1
VPS52	6293	broad.mit.edu	37	6	33236340	33236340	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33236340T>C	uc003odm.1	-	c.635A>G	c.(634-636)CAG>CGG	p.Q212R	VPS52_uc003odn.1_Missense_Mutation_p.Q87R|VPS52_uc003odo.1_Missense_Mutation_p.Q137R|VPS52_uc011dqy.1_Missense_Mutation_p.Q87R|VPS52_uc011dqz.1_Missense_Mutation_p.Q87R	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	212	Potential.				protein transport	endosome membrane|Golgi apparatus				ovary(4)	4														0.319149	40.306089	41.673493	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33236340	33236340	17781	6	T	C	C	C	715	55	VPS52	4	4
KIFC1	3833	broad.mit.edu	37	6	33372728	33372728	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33372728C>A	uc003oef.3	+	c.856C>A	c.(856-858)CGG>AGG	p.R286R	KIFC1_uc011drf.1_Silent_p.R278R	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	286	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0														0.122449	6.771063	13.56653	6	43	KEEP	---	---	---	---	capture		Silent	SNP	33372728	33372728	8623	6	C	A	A	A	347	27	KIFC1	1	1
KCTD20	222658	broad.mit.edu	37	6	36449479	36449479	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36449479G>A	uc003ome.2	+	c.799G>A	c.(799-801)GAT>AAT	p.D267N	KCTD20_uc011dtm.1_Missense_Mutation_p.D122N|KCTD20_uc011dtn.1_Missense_Mutation_p.D21N|KCTD20_uc010jwk.2_Missense_Mutation_p.D101N|KCTD20_uc011dto.1_Missense_Mutation_p.D21N	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	267						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2														0.314815	46.054219	47.70252	17	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36449479	36449479	8414	6	G	A	A	A	533	41	KCTD20	2	2
KCNK17	89822	broad.mit.edu	37	6	39267319	39267319	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39267319C>G	uc003ooo.2	-	c.883G>C	c.(883-885)GAC>CAC	p.D295H	KCNK17_uc003oop.2_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	295	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1														0.222222	43.964736	49.072666	16	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39267319	39267319	8369	6	C	G	G	G	377	29	KCNK17	3	3
KIF6	221458	broad.mit.edu	37	6	39507899	39507899	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39507899G>T	uc003oot.2	-	c.1525C>A	c.(1525-1527)CCA>ACA	p.P509T	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.P300T|KIF6_uc011dua.1_Missense_Mutation_p.P509T|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	509					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.208092	74.804207	88.464781	36	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39507899	39507899	8619	6	G	T	T	T	559	43	KIF6	2	2
DAAM2	23500	broad.mit.edu	37	6	39866660	39866660	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39866660G>C	uc003oow.2	+	c.2626G>C	c.(2626-2628)GAA>CAA	p.E876Q	DAAM2_uc003oox.2_Missense_Mutation_p.E876Q	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	876	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)													0.416667	16.973114	17.045844	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39866660	39866660	4382	6	G	C	C	C	429	33	DAAM2	3	3
MOCS1	4337	broad.mit.edu	37	6	39881105	39881106	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39881105_39881106CC>AA	uc003opb.2	-	c.712_713GG>TT	c.(712-714)GGC>TTC	p.G238F	MOCS1_uc003opa.2_Missense_Mutation_p.G238F|MOCS1_uc003opc.2_Missense_Mutation_p.G238F|MOCS1_uc003opd.2_Missense_Mutation_p.G238F|MOCS1_uc003ope.2_Missense_Mutation_p.G151F	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	238	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)								0.52381	34.145694	34.158019	11	10	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	39881105	39881106	10081	6	CC	AA	AA	AA	338	26	MOCS1	2	2
LRFN2	57497	broad.mit.edu	37	6	40399611	40399611	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:40399611G>A	uc003oph.1	-	c.1242C>T	c.(1240-1242)GGC>GGT	p.G414G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	414	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.333333	19.316112	19.894676	8	16	KEEP	---	---	---	---	capture		Silent	SNP	40399611	40399611	9311	6	G	A	A	A	483	38	LRFN2	1	1
NFYA	4800	broad.mit.edu	37	6	41062141	41062141	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41062141C>T	uc003opo.2	+	c.895C>T	c.(895-897)CTG>TTG	p.L299L	NFYA_uc003opp.2_Silent_p.L270L|NFYA_uc003opq.2_Silent_p.L270L	NM_002505	NP_002496	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha isoform 1	299	NFYA/HAP2-type.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.109375	8.879738	18.547352	7	57	KEEP	---	---	---	---	capture		Silent	SNP	41062141	41062141	10789	6	C	T	T	T	311	24	NFYA	2	2
UBR2	23304	broad.mit.edu	37	6	42600415	42600415	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42600415C>T	uc011dur.1	+	c.1407C>T	c.(1405-1407)TTC>TTT	p.F469F	UBR2_uc011dus.1_Silent_p.F114F|UBR2_uc010jxv.1_5'UTR|UBR2_uc003osh.2_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	469						nucleus|plasma membrane	zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)											0.117647	4.673824	9.562058	4	30	KEEP	---	---	---	---	capture		Silent	SNP	42600415	42600415	17460	6	C	T	T	T	376	29	UBR2	2	2
CUL7	9820	broad.mit.edu	37	6	43020250	43020250	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43020250G>C	uc011dvb.1	-	c.433C>G	c.(433-435)CAG>GAG	p.Q145E	CUL7_uc003otq.2_Missense_Mutation_p.Q93E|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	93					interspecies interaction between organisms|regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)											0.342857	32.487463	33.251896	12	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43020250	43020250	4220	6	G	C	C	C	611	47	CUL7	3	3
C6orf138	442213	broad.mit.edu	37	6	47976798	47976798	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47976798G>T	uc011dwm.1	-	c.428C>A	c.(427-429)CCA>CAA	p.P143Q	C6orf138_uc011dwn.1_5'UTR|C6orf138_uc003ozf.2_Missense_Mutation_p.P160Q	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	160						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.361111	38.766731	39.377298	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47976798	47976798	2435	6	G	T	T	T	611	47	C6orf138	2	2
TFAP2B	7021	broad.mit.edu	37	6	50810880	50810880	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50810880C>T	uc003pag.2	+	c.1158C>T	c.(1156-1158)ATC>ATT	p.I386I		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	386				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter, global	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					Pancreas(116;1373 2332 5475 10752)								0.333333	58.545413	60.332118	24	48	KEEP	---	---	---	---	capture		Silent	SNP	50810880	50810880	16316	6	C	T	T	T	382	30	TFAP2B	2	2
DST	667	broad.mit.edu	37	6	56347577	56347577	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56347577C>G	uc003pdf.2	-	c.14949G>C	c.(14947-14949)TGG>TGC	p.W4983C	DST_uc003pcz.3_Missense_Mutation_p.W4805C|DST_uc011dxj.1_Missense_Mutation_p.W4834C|DST_uc011dxk.1_Missense_Mutation_p.W4845C|DST_uc003pcy.3_Missense_Mutation_p.W4479C	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6891	Spectrin 19.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.340909	41.115298	42.097674	15	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56347577	56347577	4967	6	C	G	G	G	286	22	DST	3	3
DST	667	broad.mit.edu	37	6	56393681	56393681	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56393681G>C	uc003pdf.2	-	c.11281C>G	c.(11281-11283)CAG>GAG	p.Q3761E	DST_uc003pcz.3_Missense_Mutation_p.Q3583E|DST_uc011dxj.1_Missense_Mutation_p.Q3612E|DST_uc011dxk.1_Missense_Mutation_p.Q3623E|DST_uc003pcy.3_Missense_Mutation_p.Q3257E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5669					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.625	18.777211	18.886962	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56393681	56393681	4967	6	G	C	C	C	585	45	DST	3	3
BAI3	577	broad.mit.edu	37	6	69646435	69646435	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69646435C>T	uc003pev.3	+	c.893C>T	c.(892-894)TCC>TTC	p.S298F	BAI3_uc010kak.2_Missense_Mutation_p.S298F	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	298	TSP type-1 1.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.307692	11.195599	11.623909	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69646435	69646435	1321	6	C	T	T	T	390	30	BAI3	2	2
BAI3	577	broad.mit.edu	37	6	69728345	69728345	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69728345G>T	uc003pev.3	+	c.2061G>T	c.(2059-2061)ATG>ATT	p.M687I	BAI3_uc010kak.2_Missense_Mutation_p.M687I	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	687	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.407407	35.019785	35.222144	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69728345	69728345	1321	6	G	T	T	T	611	47	BAI3	2	2
DSP	1832	broad.mit.edu	37	6	7582930	7582930	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7582930G>C	uc003mxp.1	+	c.5435G>C	c.(5434-5436)AGA>ACA	p.R1812T	DSP_uc003mxq.1_Missense_Mutation_p.R1213T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1812	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)										0.040936	-24.125319	14.662171	7	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7582930	7582930	4965	6	G	C	C	C	429	33	DSP	3	3
COL12A1	1303	broad.mit.edu	37	6	75860873	75860873	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75860873G>T	uc003phs.2	-	c.4131C>A	c.(4129-4131)AAC>AAA	p.N1377K	COL12A1_uc003pht.2_Missense_Mutation_p.N213K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1377					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.590909	82.854315	83.171253	26	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75860873	75860873	3807	6	G	T	T	T	620	48	COL12A1	2	2
MRAP2	112609	broad.mit.edu	37	6	84772655	84772655	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84772655G>A	uc003pkg.3	+	c.171G>A	c.(169-171)GTG>GTA	p.V57V	MRAP2_uc010kbo.2_Intron	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	57					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	adrenocorticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding				0														0.327869	53.574791	55.179789	20	41	KEEP	---	---	---	---	capture		Silent	SNP	84772655	84772655	10146	6	G	A	A	A	574	45	MRAP2	2	2
RNGTT	8732	broad.mit.edu	37	6	89479548	89479548	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89479548G>A	uc003pmr.2	-	c.1384C>T	c.(1384-1386)CCC>TCC	p.P462S	RNGTT_uc003pms.2_Missense_Mutation_p.P439S|RNGTT_uc011dzu.1_Missense_Mutation_p.P379S|RNGTT_uc003pmt.2_Missense_Mutation_p.P462S	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	462	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)										0.272727	8.120434	8.632364	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89479548	89479548	13982	6	G	A	A	A	533	41	RNGTT	2	2
MAP3K7	6885	broad.mit.edu	37	6	91260258	91260258	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:91260258C>A	uc003pnz.1	-	c.878G>T	c.(877-879)GGA>GTA	p.G293V	MAP3K7_uc003poa.1_Missense_Mutation_p.G293V|MAP3K7_uc003pob.1_Missense_Mutation_p.G293V|MAP3K7_uc003poc.1_Missense_Mutation_p.G293V	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	293					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)						329				0.181818	5.483284	7.581882	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91260258	91260258	9638	6	C	A	A	A	390	30	MAP3K7	2	2
EPHA7	2045	broad.mit.edu	37	6	93982069	93982069	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:93982069G>C	uc003poe.2	-	c.1396C>G	c.(1396-1398)CCA>GCA	p.P466A	EPHA7_uc003pof.2_Missense_Mutation_p.P466A|EPHA7_uc011eac.1_Missense_Mutation_p.P466A	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	466	Extracellular (Potential).|Fibronectin type-III 2.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)						635				0.612903	129.261572	129.954275	38	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93982069	93982069	5365	6	G	C	C	C	572	44	EPHA7	3	3
FUT9	10690	broad.mit.edu	37	6	96651080	96651080	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651080A>G	uc003pop.3	+	c.49A>G	c.(49-51)ATT>GTT	p.I17V		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	17	Helical; Signal-anchor for type II membrane protein; (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.294118	37.296774	39.237493	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96651080	96651080	6362	6	A	G	G	G	104	8	FUT9	4	4
FUT9	10690	broad.mit.edu	37	6	96651793	96651793	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651793G>T	uc003pop.3	+	c.762G>T	c.(760-762)ACG>ACT	p.T254T		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	254	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.25	10.292833	11.201515	4	12	KEEP	---	---	---	---	capture		Silent	SNP	96651793	96651793	6362	6	G	T	T	T	496	39	FUT9	1	1
C6orf167	253714	broad.mit.edu	37	6	97676907	97676907	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97676907C>A	uc003ppb.2	-	c.1902G>T	c.(1900-1902)GTG>GTT	p.V634V	C6orf167_uc011eaf.1_Silent_p.V594V	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	634					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)										0.365385	55.396923	56.230969	19	33	KEEP	---	---	---	---	capture		Silent	SNP	97676907	97676907	2447	6	C	A	A	A	210	17	C6orf167	2	2
ACTL6B	51412	broad.mit.edu	37	7	100252740	100252740	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100252740C>T	uc003uvy.2	-	c.271G>A	c.(271-273)GAG>AAG	p.E91K	ACTL6B_uc003uvz.2_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	91					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)													0.294118	28.848954	30.131461	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100252740	100252740	200	7	C	T	T	T	403	31	ACTL6B	1	1
ZAN	7455	broad.mit.edu	37	7	100336203	100336203	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100336203G>A	uc003uwj.2	+	c.733G>A	c.(733-735)GTG>ATG	p.V245M	ZAN_uc003uwk.2_Missense_Mutation_p.V245M|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	245	MAM 2.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.2	6.818033	8.072396	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100336203	100336203	18096	7	G	A	A	A	520	40	ZAN	1	1
ZAN	7455	broad.mit.edu	37	7	100361492	100361492	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100361492G>T	uc003uwj.2	+	c.4050G>T	c.(4048-4050)TCG>TCT	p.S1350S	ZAN_uc003uwk.2_Silent_p.S1350S|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1350	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.333333	58.597456	60.064837	20	40	KEEP	---	---	---	---	capture		Silent	SNP	100361492	100361492	18096	7	G	T	T	T	496	39	ZAN	1	1
MUC17	140453	broad.mit.edu	37	7	100676089	100676089	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100676089G>A	uc003uxp.1	+	c.1392G>A	c.(1390-1392)GTG>GTA	p.V464V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	464	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5.					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)													0.067485	-18.329746	44.847505	22	304	KEEP	---	---	---	---	capture		Silent	SNP	100676089	100676089	10368	7	G	A	A	A	600	47	MUC17	2	2
PLOD3	8985	broad.mit.edu	37	7	100855548	100855548	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100855548G>A	uc003uyd.2	-	c.1113C>T	c.(1111-1113)GCC>GCT	p.A371A	PLOD3_uc010lhs.2_5'UTR	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	371					oxidation-reduction process|protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)									0.205882	29.907692	35.367755	14	54	KEEP	---	---	---	---	capture		Silent	SNP	100855548	100855548	12529	7	G	A	A	A	600	47	PLOD3	2	2
LRWD1	222229	broad.mit.edu	37	7	102110022	102110022	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:102110022G>A	uc003uzn.2	+	c.1230G>A	c.(1228-1230)ACG>ACA	p.T410T	LRWD1_uc003uzo.2_Silent_p.T258T	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	410	WD 1.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding				0														0.180328	23.752597	29.563797	11	50	KEEP	---	---	---	---	capture		Silent	SNP	102110022	102110022	9423	7	G	A	A	A	496	39	LRWD1	1	1
RELN	5649	broad.mit.edu	37	7	103230224	103230224	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103230224G>C	uc003vca.2	-	c.3964C>G	c.(3964-3966)CAG>GAG	p.Q1322E	RELN_uc010liz.2_Missense_Mutation_p.Q1322E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1322	BNR 5.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.23913	95.807206	104.379872	33	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103230224	103230224	13689	7	G	C	C	C	585	45	RELN	3	3
PIK3CG	5294	broad.mit.edu	37	7	106545619	106545619	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106545619C>A	uc003vdv.3	+	c.3096C>A	c.(3094-3096)TCC>TCA	p.S1032S	PIK3CG_uc003vdu.2_Silent_p.S1032S|PIK3CG_uc003vdw.2_Silent_p.S1032S	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	1032	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.5	168.709744	168.709744	55	55	KEEP	---	---	---	---	capture		Silent	SNP	106545619	106545619	12340	7	C	A	A	A	262	21	PIK3CG	2	2
LAMB4	22798	broad.mit.edu	37	7	107703433	107703433	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107703433G>T	uc010ljo.1	-	c.3068C>A	c.(3067-3069)TCC>TAC	p.S1023Y	LAMB4_uc003vey.2_Missense_Mutation_p.S1023Y|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1023	Laminin EGF-like 11.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.428571	33.690193	33.815726	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107703433	107703433	8936	7	G	T	T	T	533	41	LAMB4	2	2
LRRN3	54674	broad.mit.edu	37	7	110763980	110763980	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:110763980C>A	uc003vft.3	+	c.1152C>A	c.(1150-1152)ACC>ACA	p.T384T	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.T384T|LRRN3_uc003vfs.3_Silent_p.T384T	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	384	Extracellular (Potential).|LRRCT.					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)										0.191781	27.440118	33.903976	14	59	KEEP	---	---	---	---	capture		Silent	SNP	110763980	110763980	9412	7	C	A	A	A	262	21	LRRN3	2	2
GPR85	54329	broad.mit.edu	37	7	112724206	112724206	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112724206G>A	uc010ljv.2	-	c.571C>T	c.(571-573)CTT>TTT	p.L191F	GPR85_uc003vgp.1_Missense_Mutation_p.L191F|GPR85_uc003vgq.2_Missense_Mutation_p.L191F|GPR85_uc010ljw.1_Missense_Mutation_p.L191F	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	191	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.319149	44.414114	45.777129	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112724206	112724206	6990	7	G	A	A	A	429	33	GPR85	2	2
PPP1R3A	5506	broad.mit.edu	37	7	113518146	113518146	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:113518146C>A	uc010ljy.1	-	c.3001G>T	c.(3001-3003)GAG>TAG	p.E1001*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	1001					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.045455	-17.45847	11.672666	6	126	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113518146	113518146	12806	7	C	A	A	A	416	32	PPP1R3A	5	2
THSD7A	221981	broad.mit.edu	37	7	11486869	11486869	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11486869G>C	uc003ssf.3	-	c.2788C>G	c.(2788-2790)CGC>GGC	p.R930G		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	930	TSP type-1 9.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.415094	70.429743	70.765393	22	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11486869	11486869	16407	7	G	C	C	C	494	38	THSD7A	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121659297	121659297	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121659297C>G	uc003vjy.2	+	c.4963C>G	c.(4963-4965)CTT>GTT	p.L1655V	PTPRZ1_uc003vjz.2_Missense_Mutation_p.L795V|PTPRZ1_uc011knt.1_Missense_Mutation_p.L245V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1655	Helical; (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.210526	20.978505	23.924175	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121659297	121659297	13272	7	C	G	G	G	416	32	PTPRZ1	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121682766	121682766	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121682766G>T	uc003vjy.2	+	c.5906G>T	c.(5905-5907)CGT>CTT	p.R1969L	PTPRZ1_uc003vjz.2_Missense_Mutation_p.R1102L|PTPRZ1_uc011knt.1_Missense_Mutation_p.R559L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1969	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.577778	90.062784	90.302479	26	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121682766	121682766	13272	7	G	T	T	T	520	40	PTPRZ1	1	1
FEZF1	389549	broad.mit.edu	37	7	121944292	121944292	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121944292A>T	uc003vkd.2	-	c.200T>A	c.(199-201)CTC>CAC	p.L67H	FEZF1_uc003vkc.2_Missense_Mutation_p.L67H	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	67					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.145455	11.463022	18.115863	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121944292	121944292	6062	7	A	T	T	T	143	11	FEZF1	3	3
SLC13A1	6561	broad.mit.edu	37	7	122809236	122809236	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122809236G>C	uc003vkm.2	-	c.519C>G	c.(517-519)TTC>TTG	p.F173L	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	173						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)									0.148649	22.973758	31.740458	11	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122809236	122809236	14886	7	G	C	C	C	581	45	SLC13A1	3	3
GPR37	2861	broad.mit.edu	37	7	124386587	124386587	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:124386587G>C	uc003vli.2	-	c.1834C>G	c.(1834-1836)CAT>GAT	p.H612D		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	612	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.118812	18.72451	33.137773	12	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124386587	124386587	6966	7	G	C	C	C	585	45	GPR37	3	3
GRM8	2918	broad.mit.edu	37	7	126542658	126542658	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126542658T>A	uc003vlr.2	-	c.1094A>T	c.(1093-1095)GAG>GTG	p.E365V	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E365V|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.E86V	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	365	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.288889	31.451632	33.253124	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126542658	126542658	7082	7	T	A	A	A	702	54	GRM8	3	3
LEP	3952	broad.mit.edu	37	7	127894609	127894609	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127894609C>A	uc003vml.2	+	c.297C>A	c.(295-297)AAC>AAA	p.N99K	LEP_uc003vmm.2_Missense_Mutation_p.N98K	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	99					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0														0.329268	82.007887	84.121285	27	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127894609	127894609	9051	7	C	A	A	A	246	19	LEP	1	1
IMPDH1	3614	broad.mit.edu	37	7	128049523	128049523	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128049523G>A	uc003vmu.2	-	c.162C>T	c.(160-162)CTC>CTT	p.L54L	IMPDH1_uc003vmw.2_Intron|IMPDH1_uc011kon.1_Silent_p.L54L|IMPDH1_uc003vmv.2_Intron|IMPDH1_uc003vmx.2_Intron|IMPDH1_uc003vmy.2_Intron	NM_000883	NP_000874	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform a	Error:Variant_position_missing_in_P20839_after_alignment					GMP biosynthetic process|oxidation-reduction process|purine base metabolic process|response to stimulus|visual perception	cytosol	IMP dehydrogenase activity|metal ion binding			lung(1)|central_nervous_system(1)	2					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)									0.222222	19.396962	21.940873	8	28	KEEP	---	---	---	---	capture		Silent	SNP	128049523	128049523	8027	7	G	A	A	A	470	37	IMPDH1	1	1
CCDC136	64753	broad.mit.edu	37	7	128446872	128446872	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128446872T>A	uc003vnv.1	+	c.1379T>A	c.(1378-1380)CTC>CAC	p.L460H	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Missense_Mutation_p.L407H|CCDC136_uc003vnx.1_Missense_Mutation_p.L276H|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Missense_Mutation_p.L70H	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	460						integral to membrane	protein binding			ovary(2)	2														0.3125	27.738674	28.739994	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128446872	128446872	2890	7	T	A	A	A	702	54	CCDC136	3	3
AKR1B1	231	broad.mit.edu	37	7	134136430	134136430	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134136430C>T	uc003vrp.1	-	c.142G>A	c.(142-144)GTG>ATG	p.V48M	AKR1B1_uc003vrq.1_Non-coding_Transcript	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	48					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|oxidation-reduction process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)									0.393939	36.868154	37.192955	13	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134136430	134136430	469	7	C	T	T	T	221	17	AKR1B1	2	2
AKR1B10	57016	broad.mit.edu	37	7	134212696	134212696	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134212696C>A	uc003vrr.2	+	c.33C>A	c.(31-33)GCC>GCA	p.A11A		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	11					cellular aldehyde metabolic process|digestion|oxidation-reduction process|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding				0														0.292683	31.980924	33.560471	12	29	KEEP	---	---	---	---	capture		Silent	SNP	134212696	134212696	470	7	C	A	A	A	262	21	AKR1B10	2	2
AKR1B10	57016	broad.mit.edu	37	7	134223009	134223009	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134223009C>A	uc003vrr.2	+	c.805C>A	c.(805-807)CGC>AGC	p.R269S		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	269	NADP.				cellular aldehyde metabolic process|digestion|oxidation-reduction process|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding				0														0.433121	219.280539	219.891196	68	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134223009	134223009	470	7	C	A	A	A	247	19	AKR1B10	1	1
SLC13A4	26266	broad.mit.edu	37	7	135384184	135384184	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135384184G>T	uc003vtb.2	-	c.827C>A	c.(826-828)TCC>TAC	p.S276Y	SLC13A4_uc003vta.2_Missense_Mutation_p.S275Y	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	275	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0														0.4	21.794567	21.969862	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135384184	135384184	14889	7	G	T	T	T	533	41	SLC13A4	2	2
FAM180A	389558	broad.mit.edu	37	7	135419037	135419037	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135419037C>T	uc003vtd.2	-	c.208G>A	c.(208-210)GAC>AAC	p.D70N	FAM180A_uc010lmt.2_Non-coding_Transcript|FAM180A_uc010lmu.2_Missense_Mutation_p.D70N	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	hypothetical protein LOC389558 precursor	70						extracellular region				ovary(2)	2														0.109589	5.841555	16.867014	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135419037	135419037	5713	7	C	T	T	T	377	29	FAM180A	2	2
CHRM2	1129	broad.mit.edu	37	7	136700289	136700289	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136700289C>G	uc003vtf.1	+	c.677C>G	c.(676-678)GCC>GGC	p.A226G	CHRM2_uc003vtg.1_Missense_Mutation_p.A226G|CHRM2_uc003vtj.1_Missense_Mutation_p.A226G|CHRM2_uc003vtk.1_Missense_Mutation_p.A226G|CHRM2_uc003vtl.1_Missense_Mutation_p.A226G|CHRM2_uc003vtm.1_Missense_Mutation_p.A226G|CHRM2_uc003vti.1_Missense_Mutation_p.A226G|CHRM2_uc003vto.1_Missense_Mutation_p.A226G|CHRM2_uc003vtn.1_Missense_Mutation_p.A226G	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	226	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.209302	20.608086	24.033895	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136700289	136700289	3511	7	C	G	G	G	338	26	CHRM2	3	3
DGKI	9162	broad.mit.edu	37	7	137237296	137237296	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137237296C>T	uc003vtt.2	-	c.1966G>A	c.(1966-1968)GGC>AGC	p.G656S	DGKI_uc003vtu.2_Missense_Mutation_p.G356S	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	656					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.325397	121.109595	124.478193	41	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137237296	137237296	4650	7	C	T	T	T	286	22	DGKI	2	2
HIPK2	28996	broad.mit.edu	37	7	139281713	139281713	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139281713G>C	uc003vvf.3	-	c.2467C>G	c.(2467-2469)CAG>GAG	p.Q823E	HIPK2_uc003vvd.3_Missense_Mutation_p.Q796E	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	823	Interaction with HMGA1 (By similarity).|Interaction with SKI and SMAD1.|Interaction with POU4F1 (By similarity).|Interaction with CTBP1 (By similarity).				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				0.140625	18.64359	26.610124	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139281713	139281713	7402	7	G	C	C	C	585	45	HIPK2	3	3
DENND2A	27147	broad.mit.edu	37	7	140301825	140301825	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140301825C>G	uc010lnj.2	-	c.373G>C	c.(373-375)GGG>CGG	p.G125R	DENND2A_uc011kre.1_Non-coding_Transcript|DENND2A_uc010lnk.2_Missense_Mutation_p.G125R|DENND2A_uc003vvw.2_Missense_Mutation_p.G125R|DENND2A_uc003vvx.2_Missense_Mutation_p.G125R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	125										ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.181818	51.174663	63.689203	24	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140301825	140301825	4608	7	C	G	G	G	286	22	DENND2A	3	3
MGAM	8972	broad.mit.edu	37	7	141722155	141722155	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141722155G>T	uc003vwy.2	+	c.798G>T	c.(796-798)CTG>CTT	p.L266L		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	266	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.217054	63.988668	73.474467	28	101	KEEP	---	---	---	---	capture		Silent	SNP	141722155	141722155	9931	7	G	T	T	T	600	47	MGAM	2	2
EPHB6	2051	broad.mit.edu	37	7	142562343	142562343	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142562343G>T	uc011kst.1	+	c.785G>T	c.(784-786)TGT>TTT	p.C262F	EPHB6_uc011ksu.1_Missense_Mutation_p.C262F|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	262	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.421053	48.409719	48.611173	16	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142562343	142562343	5371	7	G	T	T	T	624	48	EPHB6	2	2
EPHB6	2051	broad.mit.edu	37	7	142565367	142565367	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142565367G>A	uc011kst.1	+	c.1752G>A	c.(1750-1752)GAG>GAA	p.E584E	EPHB6_uc011ksu.1_Silent_p.E584E|EPHB6_uc003wbs.2_Silent_p.E292E|EPHB6_uc003wbt.2_Silent_p.E58E|EPHB6_uc003wbu.2_Silent_p.E292E|EPHB6_uc003wbv.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	584	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.571429	25.901577	25.963795	8	6	KEEP	---	---	---	---	capture		Silent	SNP	142565367	142565367	5371	7	G	A	A	A	438	34	EPHB6	2	2
KEL	3792	broad.mit.edu	37	7	142658566	142658566	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142658566G>T	uc003wcb.2	-	c.104C>A	c.(103-105)CCC>CAC	p.P35H		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	35	Cytoplasmic (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.647059	34.728682	35.052774	11	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142658566	142658566	8448	7	G	T	T	T	559	43	KEL	2	2
OR6V1	346517	broad.mit.edu	37	7	142750145	142750145	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142750145C>T	uc011ksv.1	+	c.708C>T	c.(706-708)TTC>TTT	p.F236F		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	236	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)													0.313559	101.496488	105.168083	37	81	KEEP	---	---	---	---	capture		Silent	SNP	142750145	142750145	11622	7	C	T	T	T	415	32	OR6V1	2	2
OR2A14	135941	broad.mit.edu	37	7	143826372	143826372	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143826372C>A	uc011kua.1	+	c.167C>A	c.(166-168)ACA>AAA	p.T56K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	56	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.266667	96.841186	103.479513	36	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143826372	143826372	11382	7	C	A	A	A	221	17	OR2A14	2	2
CNTNAP2	26047	broad.mit.edu	37	7	146471405	146471405	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:146471405C>A	uc003weu.1	+	c.140C>A	c.(139-141)GCT>GAT	p.A47D		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	47	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.345455	51.690286	52.858421	19	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146471405	146471405	3785	7	C	A	A	A	364	28	CNTNAP2	2	2
GIMAP4	55303	broad.mit.edu	37	7	150269516	150269516	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150269516G>T	uc011kuv.1	+	c.400G>T	c.(400-402)GTG>TTG	p.V134L	GIMAP4_uc011kuu.1_Intron|GIMAP4_uc003whl.2_Missense_Mutation_p.V120L	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	120							GTP binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.439024	162.232288	162.628732	54	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150269516	150269516	6649	7	G	T	T	T	572	44	GIMAP4	2	2
NOS3	4846	broad.mit.edu	37	7	150698505	150698505	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150698505C>G	uc003wif.2	+	c.1420C>G	c.(1420-1422)CGC>GGC	p.R474G	NOS3_uc011kuy.1_Missense_Mutation_p.R268G|NOS3_uc011kuz.1_Missense_Mutation_p.R474G|NOS3_uc011kva.1_Missense_Mutation_p.R474G|NOS3_uc011kvb.1_Missense_Mutation_p.R474G	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	474	Interaction with NOSIP.		R -> C (in a colorectal cancer sample; somatic mutation).		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R474C(1)		central_nervous_system(5)|large_intestine(2)	7	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)					755				0.25	8.890714	9.801516	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150698505	150698505	10947	7	C	G	G	G	299	23	NOS3	3	3
NUB1	51667	broad.mit.edu	37	7	151046189	151046189	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151046189G>C	uc003wjx.2	+	c.220G>C	c.(220-222)GAA>CAA	p.E74Q	NUB1_uc011kvi.1_Missense_Mutation_p.E74Q|NUB1_uc003wjv.2_Non-coding_Transcript|NUB1_uc003wjw.2_Missense_Mutation_p.E50Q|NUB1_uc010lqb.2_Non-coding_Transcript|NUB1_uc003wjy.2_Non-coding_Transcript	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	50	Potential.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)										0.22449	30.698382	34.116352	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151046189	151046189	11119	7	G	C	C	C	429	33	NUB1	3	3
GALNTL5	168391	broad.mit.edu	37	7	151664474	151664474	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151664474C>A	uc003wkp.2	+	c.143C>A	c.(142-144)CCT>CAT	p.P48H	GALNTL5_uc003wkq.2_De_novo_Start_InFrame|GALNTL5_uc003wkr.2_Non-coding_Transcript|GALNTL5_uc003wks.2_Non-coding_Transcript|GALNTL5_uc010lqf.2_De_novo_Start_InFrame	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	48	Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)										0.311111	39.43313	40.863165	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151664474	151664474	6488	7	C	A	A	A	312	24	GALNTL5	2	2
MLL3	58508	broad.mit.edu	37	7	151933018	151933018	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151933018C>A	uc003wla.2	-	c.2653G>T	c.(2653-2655)GGC>TGC	p.G885C	MLL3_uc003wkz.2_5'UTR	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	885					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.327869	55.079624	56.682118	20	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151933018	151933018	10012	7	C	A	A	A	286	22	MLL3	2	2
DPP6	1804	broad.mit.edu	37	7	154237654	154237654	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154237654G>A	uc003wlk.2	+	c.495G>A	c.(493-495)GTG>GTA	p.V165V	DPP6_uc003wli.2_Silent_p.V101V|DPP6_uc003wlj.2_Silent_p.V165V|DPP6_uc003wlm.2_Silent_p.V103V|DPP6_uc011kvq.1_Silent_p.V103V	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	165	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			NSCLC(125;1384 1783 2490 7422 34254)								0.152174	11.694136	17.022618	7	39	KEEP	---	---	---	---	capture		Silent	SNP	154237654	154237654	4914	7	G	A	A	A	574	45	DPP6	2	2
SHH	6469	broad.mit.edu	37	7	155604608	155604608	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:155604608G>T	uc003wmk.1	-	c.209C>A	c.(208-210)TCC>TAC	p.S70Y	SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	70					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|regulation of mesenchymal cell proliferation involved in ureter development|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|transcription activator activity|zinc ion binding			central_nervous_system(3)	3	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)						109				0.108696	7.079839	21.047982	10	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155604608	155604608	14771	7	G	T	T	T	533	41	SHH	2	2
UBE3C	9690	broad.mit.edu	37	7	156974947	156974947	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:156974947A>G	uc010lqs.2	+	c.916A>G	c.(916-918)AGT>GGT	p.S306G	UBE3C_uc003wnf.2_Missense_Mutation_p.S263G|UBE3C_uc003wng.2_Missense_Mutation_p.S306G	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	306					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|ovary(1)	2		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)										0.366667	64.624934	65.566156	22	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156974947	156974947	17439	7	A	G	G	G	143	11	UBE3C	4	4
HDAC9	9734	broad.mit.edu	37	7	18684300	18684300	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18684300G>T	uc003sui.2	+	c.919G>T	c.(919-921)GTT>TTT	p.V307F	HDAC9_uc003sue.2_Missense_Mutation_p.V304F|HDAC9_uc011jyd.1_Missense_Mutation_p.V304F|HDAC9_uc003suh.2_Missense_Mutation_p.V304F|HDAC9_uc003suj.2_Missense_Mutation_p.V263F|HDAC9_uc011jya.1_Missense_Mutation_p.V301F|HDAC9_uc003sua.1_Missense_Mutation_p.V282F|HDAC9_uc011jyb.1_Missense_Mutation_p.V260F|HDAC9_uc003sud.1_Missense_Mutation_p.V304F|HDAC9_uc011jyc.1_Missense_Mutation_p.V263F|HDAC9_uc003suf.1_Missense_Mutation_p.V335F|HDAC9_uc010kud.1_Missense_Mutation_p.V307F|HDAC9_uc011jye.1_Missense_Mutation_p.V276F|HDAC9_uc011jyf.1_Missense_Mutation_p.V227F|HDAC9_uc010kue.1_Missense_Mutation_p.V47F	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	304	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.260274	48.89484	52.690972	19	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18684300	18684300	7297	7	G	T	T	T	572	44	HDAC9	2	2
ABCB5	340273	broad.mit.edu	37	7	20683184	20683184	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20683184G>T	uc010kuh.2	+	c.607G>T	c.(607-609)GGC>TGC	p.G203C		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	389	Helical; (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														0.16	18.94749	27.212891	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20683184	20683184	45	7	G	T	T	T	559	43	ABCB5	2	2
ABCB5	340273	broad.mit.edu	37	7	20739693	20739693	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20739693G>T	uc010kuh.2	+	c.2272G>T	c.(2272-2274)GGC>TGC	p.G758C	ABCB5_uc003suw.3_Missense_Mutation_p.G313C	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	313	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														0.333333	27.668478	28.331456	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20739693	20739693	45	7	G	T	T	T	507	39	ABCB5	1	1
ABCB5	340273	broad.mit.edu	37	7	20739716	20739716	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20739716G>T	uc010kuh.2	+	c.2295G>T	c.(2293-2295)ACG>ACT	p.T765T	ABCB5_uc003suw.3_Silent_p.T320T	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	320	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														0.258065	20.385347	22.029744	8	23	KEEP	---	---	---	---	capture		Silent	SNP	20739716	20739716	45	7	G	T	T	T	470	37	ABCB5	1	1
DNAH11	8701	broad.mit.edu	37	7	21932151	21932151	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21932151C>A	uc003svc.2	+	c.12637C>A	c.(12637-12639)CTG>ATG	p.L4213M		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4213					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.291971	105.344411	110.654827	40	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21932151	21932151	4781	7	C	A	A	A	259	20	DNAH11	2	2
CDCA7L	55536	broad.mit.edu	37	7	21948119	21948119	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21948119C>T	uc010kuk.2	-	c.310G>A	c.(310-312)GAG>AAG	p.E104K	CDCA7L_uc003sve.3_Missense_Mutation_p.E70K|CDCA7L_uc010kul.2_Missense_Mutation_p.E58K|CDCA7L_uc003svf.3_Missense_Mutation_p.E103K|CDCA7L_uc011jyk.1_Missense_Mutation_p.E104K	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	104	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0														0.103448	2.604079	7.144074	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21948119	21948119	3220	7	C	T	T	T	390	30	CDCA7L	2	2
CREB5	9586	broad.mit.edu	37	7	28610010	28610010	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:28610010G>T	uc003szq.2	+	c.319G>T	c.(319-321)GGG>TGG	p.G107W	CREB5_uc003szo.2_Missense_Mutation_p.G74W|CREB5_uc003szr.2_Missense_Mutation_p.G100W	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	107					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.296875	45.976559	48.353764	19	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28610010	28610010	3999	7	G	T	T	T	611	47	CREB5	2	2
CREB5	9586	broad.mit.edu	37	7	28610045	28610045	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:28610045C>A	uc003szq.2	+	c.354C>A	c.(352-354)AGC>AGA	p.S118R	CREB5_uc003szo.2_Missense_Mutation_p.S85R|CREB5_uc003szr.2_Missense_Mutation_p.S111R	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	118					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.348837	43.011782	43.87899	15	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28610045	28610045	3999	7	C	A	A	A	324	25	CREB5	2	2
AOAH	313	broad.mit.edu	37	7	36633954	36633954	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36633954G>A	uc003tfh.3	-	c.929C>T	c.(928-930)TCC>TTC	p.S310F	AOAH_uc010kxf.2_Missense_Mutation_p.S310F|AOAH_uc011kba.1_Missense_Mutation_p.S278F	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	310					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity				0														0.384615	59.389137	59.995575	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36633954	36633954	736	7	G	A	A	A	533	41	AOAH	2	2
EPDR1	54749	broad.mit.edu	37	7	37989946	37989946	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37989946G>C	uc003tfp.2	+	c.983G>C	c.(982-984)AGC>ACC	p.S328T	EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Missense_Mutation_p.S147T	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	208					cell-matrix adhesion	extracellular region	calcium ion binding				0														0.4	44.540826	44.847529	14	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37989946	37989946	5356	7	G	C	C	C	442	34	EPDR1	3	3
POU6F2	11281	broad.mit.edu	37	7	39503862	39503862	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:39503862G>A	uc003thb.1	+	c.1653G>A	c.(1651-1653)CTG>CTA	p.L551L		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	551	POU-specific.				central nervous system development|ganglion mother cell fate determination|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1														0.318841	121.750057	125.775734	44	94	KEEP	---	---	---	---	capture		Silent	SNP	39503862	39503862	12715	7	G	A	A	A	574	45	POU6F2	2	2
INHBA	3624	broad.mit.edu	37	7	41729893	41729893	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41729893G>T	uc003thq.2	-	c.636C>A	c.(634-636)GAC>GAA	p.D212E	INHBA_uc003thr.2_Missense_Mutation_p.D212E	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	212					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity|transcription activator activity			lung(5)|ovary(1)	6										102	TSP Lung(11;0.080)			0.363636	12.097193	12.277076	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41729893	41729893	8042	7	G	T	T	T	516	40	INHBA	1	1
OGDH	4967	broad.mit.edu	37	7	44736068	44736068	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44736068C>T	uc003tlp.2	+	c.1845C>T	c.(1843-1845)TGC>TGT	p.C615C	OGDH_uc003tln.2_Silent_p.C604C|OGDH_uc011kbx.1_Silent_p.C600C|OGDH_uc011kby.1_Silent_p.C454C|OGDH_uc011kbz.1_Silent_p.C399C|OGDH_uc003tlo.1_Silent_p.C437C	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	604					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)	1					NADH(DB00157)									0.347826	22.595273	23.064341	8	15	KEEP	---	---	---	---	capture		Silent	SNP	44736068	44736068	11244	7	C	T	T	T	337	26	OGDH	2	2
ZPBP	11055	broad.mit.edu	37	7	50121488	50121488	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50121488C>A	uc003tou.2	-	c.216G>T	c.(214-216)GCG>GCT	p.A72A	ZPBP_uc011kci.1_5'UTR|ZPBP_uc010kyw.2_Silent_p.A72A	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	72					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)													0.462963	80.673115	80.737163	25	29	KEEP	---	---	---	---	capture		Silent	SNP	50121488	50121488	18823	7	C	A	A	A	236	19	ZPBP	1	1
POM121L12	285877	broad.mit.edu	37	7	53103577	53103577	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53103577G>T	uc003tpz.2	+	c.213G>T	c.(211-213)CCG>CCT	p.P71P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	71											0														0.421053	25.497787	25.600891	8	11	KEEP	---	---	---	---	capture		Silent	SNP	53103577	53103577	12669	7	G	T	T	T	496	39	POM121L12	1	1
POM121L12	285877	broad.mit.edu	37	7	53104089	53104089	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53104089C>A	uc003tpz.2	+	c.725C>A	c.(724-726)CCC>CAC	p.P242H		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	242											0														0.1875	12.535353	15.458459	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53104089	53104089	12669	7	C	A	A	A	286	22	POM121L12	2	2
CCT6A	908	broad.mit.edu	37	7	56126352	56126352	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:56126352G>T	uc003trl.1	+	c.925G>T	c.(925-927)GGC>TGC	p.G309C	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.G264C|CCT6A_uc011kcu.1_Missense_Mutation_p.G278C|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	309					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.526316	64.209483	64.233222	20	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56126352	56126352	3084	7	G	T	T	T	455	35	CCT6A	2	2
USP42	84132	broad.mit.edu	37	7	6189873	6189873	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6189873A>G	uc011jwo.1	+	c.2046A>G	c.(2044-2046)CAA>CAG	p.Q682Q	USP42_uc010kth.1_Silent_p.Q615Q|USP42_uc011jwp.1_Silent_p.Q682Q|USP42_uc011jwq.1_Silent_p.Q489Q|USP42_uc011jwr.1_Silent_p.Q527Q	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	682					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|pancreas(1)	3		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)										0.181818	9.886986	11.978843	4	18	KEEP	---	---	---	---	capture		Silent	SNP	6189873	6189873	17637	7	A	G	G	G	37	3	USP42	4	4
BAZ1B	9031	broad.mit.edu	37	7	72892280	72892280	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72892280C>A	uc003tyc.2	-	c.1511G>T	c.(1510-1512)CGT>CTT	p.R504L		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	504	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|transcription regulator activity|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|breast(1)	5		Lung NSC(55;0.0659)|all_lung(88;0.152)				Esophageal Squamous(112;1167 1561 21085 43672 48228)								0.304348	61.962151	64.311328	21	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72892280	72892280	1351	7	C	A	A	A	247	19	BAZ1B	1	1
TBL2	26608	broad.mit.edu	37	7	72988716	72988716	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72988716C>G	uc003tyh.2	-	c.258G>C	c.(256-258)CTG>CTC	p.L86L	TBL2_uc011kex.1_Silent_p.L50L|TBL2_uc010lbg.2_5'UTR|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_5'UTR|TBL2_uc010lbh.2_Intron	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	86											0		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.222222	5.845227	6.483928	2	7	KEEP	---	---	---	---	capture		Silent	SNP	72988716	72988716	16168	7	C	G	G	G	366	29	TBL2	3	3
WBSCR27	155368	broad.mit.edu	37	7	73249192	73249192	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73249192C>T	uc003tzj.2	-	c.619G>A	c.(619-621)GCT>ACT	p.A207T	RFC2_uc011kfa.1_Intron	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Williams-Beuren syndrome chromosome region 27	207							methyltransferase activity			central_nervous_system(1)	1		Lung NSC(55;0.159)												0.157895	5.615355	7.733629	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73249192	73249192	17838	7	C	T	T	T	351	27	WBSCR27	1	1
CLIP2	7461	broad.mit.edu	37	7	73753334	73753334	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73753334G>T	uc003uam.2	+	c.678G>T	c.(676-678)CTG>CTT	p.L226L	CLIP2_uc003uan.2_Silent_p.L226L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	226						microtubule associated complex					0														0.25	8.119339	8.800956	3	9	KEEP	---	---	---	---	capture		Silent	SNP	73753334	73753334	3671	7	G	T	T	T	600	47	CLIP2	2	2
RSBN1L	222194	broad.mit.edu	37	7	77398052	77398052	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:77398052G>T	uc010ldt.1	+	c.1557G>T	c.(1555-1557)ATG>ATT	p.M519I	RSBN1L_uc003ugm.2_Missense_Mutation_p.M301I	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	519						nucleus				ovary(1)	1														0.25	21.876826	23.909646	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77398052	77398052	14177	7	G	T	T	T	624	48	RSBN1L	2	2
MAGI2	9863	broad.mit.edu	37	7	77789355	77789355	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:77789355A>T	uc003ugx.2	-	c.2832T>A	c.(2830-2832)TCT>TCA	p.S944S	MAGI2_uc003ugy.2_Silent_p.S930S|MAGI2_uc010ldx.1_Silent_p.S537S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	944	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)	5		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)												0.457143	49.195468	49.251518	16	19	KEEP	---	---	---	---	capture		Silent	SNP	77789355	77789355	9574	7	A	T	T	T	80	7	MAGI2	3	3
HGF	3082	broad.mit.edu	37	7	81332038	81332038	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81332038A>G	uc003uhl.2	-	c.2046T>C	c.(2044-2046)CAT>CAC	p.H682H	HGF_uc003uhm.2_Silent_p.H677H	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	682	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.166667	29.901214	38.746841	14	70	KEEP	---	---	---	---	capture		Silent	SNP	81332038	81332038	7369	7	A	G	G	G	206	16	HGF	4	4
HGF	3082	broad.mit.edu	37	7	81346623	81346623	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81346623C>A	uc003uhl.2	-	c.1330G>T	c.(1330-1332)GAT>TAT	p.D444Y	HGF_uc003uhm.2_Missense_Mutation_p.D439Y	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	444	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.380952	88.366843	89.415281	32	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81346623	81346623	7369	7	C	A	A	A	416	32	HGF	2	2
HGF	3082	broad.mit.edu	37	7	81388036	81388036	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81388036G>A	uc003uhl.2	-	c.339C>T	c.(337-339)GGC>GGT	p.G113G	HGF_uc003uhm.2_Silent_p.G113G|HGF_uc003uhn.1_Silent_p.G113G|HGF_uc003uho.1_Silent_p.G113G|HGF_uc003uhp.2_Silent_p.G113G	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	113	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.230769	28.371988	31.827109	12	40	KEEP	---	---	---	---	capture		Silent	SNP	81388036	81388036	7369	7	G	A	A	A	535	42	HGF	2	2
PCLO	27445	broad.mit.edu	37	7	82579192	82579192	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82579192G>A	uc003uhx.2	-	c.10712C>T	c.(10711-10713)GCA>GTA	p.A3571V	PCLO_uc003uhv.2_Missense_Mutation_p.A3571V|PCLO_uc010lec.2_Missense_Mutation_p.A536V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3502					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.32967	80.417878	82.758692	30	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82579192	82579192	12003	7	G	A	A	A	598	46	PCLO	2	2
PCLO	27445	broad.mit.edu	37	7	82581895	82581895	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82581895T>A	uc003uhx.2	-	c.8374A>T	c.(8374-8376)ACT>TCT	p.T2792S	PCLO_uc003uhv.2_Missense_Mutation_p.T2792S|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2723					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.247423	63.954618	69.58399	24	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82581895	82581895	12003	7	T	A	A	A	767	59	PCLO	3	3
ABCB1	5243	broad.mit.edu	37	7	87173487	87173487	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87173487G>T	uc003uiz.1	-	c.2169C>A	c.(2167-2169)GGC>GGA	p.G723G	ABCB1_uc011khc.1_Silent_p.G659G	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	723	ABC transmembrane type-1 2.|Helical; (Potential).					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.268657	46.722112	49.9575	18	49	KEEP	---	---	---	---	capture		Silent	SNP	87173487	87173487	41	7	G	T	T	T	535	42	ABCB1	2	2
RUNDC3B	154661	broad.mit.edu	37	7	87370884	87370884	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87370884G>T	uc003ujb.2	+	c.669G>T	c.(667-669)AAG>AAT	p.K223N	RUNDC3B_uc011khd.1_Missense_Mutation_p.K206N|RUNDC3B_uc011khe.1_Missense_Mutation_p.K206N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.K206N|RUNDC3B_uc003ujd.2_Missense_Mutation_p.K128N	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	223											0	Esophageal squamous(14;0.00164)													0.3	16.742007	17.45687	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87370884	87370884	14225	7	G	T	T	T	464	36	RUNDC3B	2	2
ZNF804B	219578	broad.mit.edu	37	7	88963617	88963617	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88963617C>A	uc011khi.1	+	c.1321C>A	c.(1321-1323)CTA>ATA	p.L441I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	441						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)											0.229885	50.453938	56.273687	20	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88963617	88963617	18769	7	C	A	A	A	259	20	ZNF804B	2	2
AKAP9	10142	broad.mit.edu	37	7	91632045	91632045	+	Silent	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91632045A>C	uc003ulg.2	+	c.2814A>C	c.(2812-2814)ACA>ACC	p.T938T	AKAP9_uc003ule.2_Silent_p.T950T|AKAP9_uc003ulf.2_Silent_p.T938T|AKAP9_uc003uli.2_Silent_p.T563T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	950	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)							807				0.212121	16.404483	18.935778	7	26	KEEP	---	---	---	---	capture		Silent	SNP	91632045	91632045	462	7	A	C	C	C	54	5	AKAP9	4	4
CDK6	1021	broad.mit.edu	37	7	92247458	92247458	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92247458A>G	uc011khw.1	-	c.762T>C	c.(760-762)TTT>TTC	p.F254F	CDK6_uc010lez.2_Silent_p.F254F	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	254	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|protein phosphorylation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)							86				0.125	6.378677	10.773712	4	28	KEEP	---	---	---	---	capture		Silent	SNP	92247458	92247458	3277	7	A	G	G	G	115	9	CDK6	4	4
COL1A2	1278	broad.mit.edu	37	7	94056964	94056964	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94056964C>T	uc003ung.1	+	c.3293C>T	c.(3292-3294)CCT>CTT	p.P1098L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1098				P -> L (in Ref. 17; CAA23761).	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)									0.183099	31.131201	37.824786	13	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94056964	94056964	3816	7	C	T	T	T	312	24	COL1A2	2	2
PEG10	23089	broad.mit.edu	37	7	94293271	94293271	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94293271G>T	uc003uno.2	+	c.403G>T	c.(403-405)GCA>TCA	p.A135S	PEG10_uc011kie.1_Missense_Mutation_p.A211S	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1/2	135	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)											0.089888	2.129703	17.240562	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94293271	94293271	12140	7	G	T	T	T	442	34	PEG10	2	2
DLX5	1749	broad.mit.edu	37	7	96650308	96650308	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:96650308C>T	uc003uon.2	-	c.610G>A	c.(610-612)GAG>AAG	p.E204K		NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	204					cell proliferation|endochondral ossification|osteoblast differentiation|regulation of transcription, DNA-dependent	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)													0.218182	28.175787	32.197932	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96650308	96650308	4754	7	C	T	T	T	390	30	DLX5	2	2
ARPC1A	10552	broad.mit.edu	37	7	98951633	98951635	+	Missense	Complex_substitution	GNG	TNT	TNT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98951633G>T	uc003upx.1	+	c.602G>T	c.(601-603)AGT>ATT	p.S201I	ARPC1A_uc010lfu.1_Non-coding_Transcript|ARPC1A_uc003upy.1_Missense_Mutation_p.S187I|ARPC1A_uc011kit.1_Non-coding_Transcript	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex subunit 1A	201					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)											0.451613	43.546008	43.60926	14	17	KEEP	---	---	---	---	capture		Missense	Complex_substitution	98951633	98951635	987	7	GNG	TNT	TNT	T	468	36	ARPC1A	5	5
ZNF498	221785	broad.mit.edu	37	7	99226890	99226890	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99226890G>A	uc003url.1	+	c.882G>A	c.(880-882)GAG>GAA	p.E294E	ZNF498_uc003urm.1_Silent_p.E130E|ZNF498_uc010lge.1_Silent_p.E130E|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Silent_p.E222E|ZNF498_uc003uro.1_Silent_p.E78E	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	294					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)													0.268293	85.620648	91.581752	33	90	KEEP	---	---	---	---	capture		Silent	SNP	99226890	99226890	18541	7	G	A	A	A	425	33	ZNF498	2	2
VPS13B	157680	broad.mit.edu	37	8	100148947	100148947	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:100148947T>G	uc003yiv.2	+	c.1618T>G	c.(1618-1620)TAC>GAC	p.Y540D	VPS13B_uc003yiw.2_Missense_Mutation_p.Y540D|VPS13B_uc003yit.2_Missense_Mutation_p.Y540D|VPS13B_uc003yiu.1_Missense_Mutation_p.Y540D|VPS13B_uc003yix.1_Missense_Mutation_p.Y11D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	540					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			Colon(161;2205 2542 7338 31318)				1116				0.465347	155.395682	155.502685	47	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100148947	100148947	17757	8	T	G	G	G	793	61	VPS13B	4	4
VPS13B	157680	broad.mit.edu	37	8	100523447	100523447	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:100523447G>C	uc003yiv.2	+	c.4415G>C	c.(4414-4416)AGA>ACA	p.R1472T	VPS13B_uc003yiw.2_Missense_Mutation_p.R1447T|VPS13B_uc003yix.1_Missense_Mutation_p.R942T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1472					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			Colon(161;2205 2542 7338 31318)				1116				0.176471	17.438765	22.479389	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100523447	100523447	17757	8	G	C	C	C	429	33	VPS13B	3	3
DCAF13	25879	broad.mit.edu	37	8	104427471	104427471	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104427471A>C	uc003yln.2	+	c.253A>C	c.(253-255)ACA>CCA	p.T85P	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	72	WD 1.				protein ubiquitination|rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1														0.243902	26.631602	29.080744	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104427471	104427471	4437	8	A	C	C	C	78	6	DCAF13	4	4
RP1L1	94137	broad.mit.edu	37	8	10465673	10465673	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10465673C>A	uc003wtc.2	-	c.5935G>T	c.(5935-5937)GCC>TCC	p.A1979S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1979					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.289474	109.483276	115.496457	44	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10465673	10465673	14012	8	C	A	A	A	338	26	RP1L1	2	2
RP1L1	94137	broad.mit.edu	37	8	10467204	10467204	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10467204C>A	uc003wtc.2	-	c.4404G>T	c.(4402-4404)CAG>CAT	p.Q1468H		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1468					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.37037	53.382317	54.18097	20	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10467204	10467204	14012	8	C	A	A	A	415	32	RP1L1	2	2
TM7SF4	81501	broad.mit.edu	37	8	105360984	105360984	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105360984G>C	uc003ylx.1	+	c.204G>C	c.(202-204)ACG>ACC	p.T68T		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	68	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.489362	80.729691	80.734098	23	24	KEEP	---	---	---	---	capture		Silent	SNP	105360984	105360984	16506	8	G	C	C	C	509	40	TM7SF4	3	3
C8orf74	203076	broad.mit.edu	37	8	10555214	10555214	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10555214A>G	uc003wtd.1	+	c.347A>G	c.(346-348)CAC>CGC	p.H116R	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	116											0				COAD - Colon adenocarcinoma(149;0.0811)										0.275	53.011941	56.662139	22	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10555214	10555214	2548	8	A	G	G	G	78	6	C8orf74	4	4
ZFPM2	23414	broad.mit.edu	37	8	106814271	106814271	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106814271C>A	uc003ymd.2	+	c.1961C>A	c.(1960-1962)TCC>TAC	p.S654Y	ZFPM2_uc011lhs.1_Missense_Mutation_p.S385Y	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	654					blood coagulation|transcription, DNA-dependent	nucleoplasm	DNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)											0.2	16.048329	19.818522	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106814271	106814271	18248	8	C	A	A	A	390	30	ZFPM2	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110408292	110408292	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110408292G>A	uc003yne.2	+	c.848G>A	c.(847-849)CGA>CAA	p.R283Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	283	Extracellular (Potential).|IPT/TIG 3.				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)											0.357143	14.984176	15.230078	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110408292	110408292	12397	8	G	A	A	A	481	37	PKHD1L1	1	1
CSMD3	114788	broad.mit.edu	37	8	113243849	113243849	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113243849G>A	uc003ynu.2	-	c.10753C>T	c.(10753-10755)CCT>TCT	p.P3585S	CSMD3_uc003yns.2_Missense_Mutation_p.P2787S|CSMD3_uc003ynt.2_Missense_Mutation_p.P3545S|CSMD3_uc011lhx.1_Missense_Mutation_p.P3416S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3585	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.454545	118.585569	118.74433	40	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113243849	113243849	4087	8	G	A	A	A	546	42	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113249435	113249435	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113249435C>A	uc003ynu.2	-	c.10611G>T	c.(10609-10611)ATG>ATT	p.M3537I	CSMD3_uc003yns.2_Missense_Mutation_p.M2739I|CSMD3_uc003ynt.2_Missense_Mutation_p.M3497I|CSMD3_uc011lhx.1_Missense_Mutation_p.M3368I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3537	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.22973	42.134426	47.091551	17	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113249435	113249435	4087	8	C	A	A	A	273	21	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113249507	113249507	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113249507G>T	uc003ynu.2	-	c.10539C>A	c.(10537-10539)CCC>CCA	p.P3513P	CSMD3_uc003yns.2_Silent_p.P2715P|CSMD3_uc003ynt.2_Silent_p.P3473P|CSMD3_uc011lhx.1_Silent_p.P3344P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3513	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52									p.P3513L(MEWO-Tumor)	2888	TCGA Ovarian(7;0.080)			0.522388	110.124044	110.153064	35	32	KEEP	---	---	---	---	capture		Silent	SNP	113249507	113249507	4087	8	G	T	T	T	600	47	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113253960	113253960	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113253960G>C	uc003ynu.2	-	c.10457C>G	c.(10456-10458)CCA>CGA	p.P3486R	CSMD3_uc003yns.2_Missense_Mutation_p.P2688R|CSMD3_uc003ynt.2_Missense_Mutation_p.P3446R|CSMD3_uc011lhx.1_Missense_Mutation_p.P3317R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3486	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.558824	123.652756	123.856995	38	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113253960	113253960	4087	8	G	C	C	C	611	47	CSMD3	3	3
CSMD3	114788	broad.mit.edu	37	8	113697681	113697681	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113697681C>A	uc003ynu.2	-	c.2436G>T	c.(2434-2436)CAG>CAT	p.Q812H	CSMD3_uc003yns.2_Missense_Mutation_p.Q84H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q772H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q708H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	812	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.244681	59.582663	65.16187	23	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113697681	113697681	4087	8	C	A	A	A	311	24	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113841973	113841973	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113841973C>T	uc003ynu.2	-	c.1801G>A	c.(1801-1803)GAT>AAT	p.D601N	CSMD3_uc003ynt.2_Missense_Mutation_p.D561N|CSMD3_uc011lhx.1_Missense_Mutation_p.D497N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	601	Extracellular (Potential).|CUB 3.					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)			0.217391	20.021502	23.4134	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113841973	113841973	4087	8	C	T	T	T	377	29	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113842009	113842009	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113842009T>C	uc003ynu.2	-	c.1765A>G	c.(1765-1767)ATA>GTA	p.I589V	CSMD3_uc003ynt.2_Missense_Mutation_p.I549V|CSMD3_uc011lhx.1_Missense_Mutation_p.I485V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	589	Extracellular (Potential).|CUB 3.					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)			0.257143	26.160167	28.030278	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113842009	113842009	4087	8	T	C	C	C	650	50	CSMD3	4	4
TAF2	6873	broad.mit.edu	37	8	120814113	120814113	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120814113A>G	uc003you.2	-	c.713T>C	c.(712-714)CTT>CCT	p.L238P		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	238					G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|promoter binding|protein binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)	5	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)											0.296875	59.100473	61.461291	19	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120814113	120814113	16045	8	A	G	G	G	39	3	TAF2	4	4
ASAP1	50807	broad.mit.edu	37	8	131130908	131130908	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131130908C>A	uc003yta.1	-	c.1621G>T	c.(1621-1623)GAA>TAA	p.E541*	ASAP1_uc003ysz.1_Nonsense_Mutation_p.E352*|ASAP1_uc011liw.1_Nonsense_Mutation_p.E534*	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	541	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4														0.24	14.736776	16.279801	6	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	131130908	131130908	1028	8	C	A	A	A	416	32	ASAP1	5	2
TG	7038	broad.mit.edu	37	8	133900459	133900459	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133900459C>G	uc003ytw.2	+	c.2407C>G	c.(2407-2409)CTA>GTA	p.L803V		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	803	Thyroglobulin type-1 7.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.578947	113.108556	113.427809	33	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133900459	133900459	16341	8	C	G	G	G	363	28	TG	3	3
TG	7038	broad.mit.edu	37	8	133995598	133995598	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133995598C>G	uc003ytw.2	+	c.6203C>G	c.(6202-6204)GCT>GGT	p.A2068G	TG_uc010mdw.2_Missense_Mutation_p.A827G|TG_uc011ljb.1_Missense_Mutation_p.A437G|TG_uc011ljc.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2068	Type IIIB.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.37931	103.653009	104.765175	33	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133995598	133995598	16341	8	C	G	G	G	364	28	TG	3	3
ZFAT	57623	broad.mit.edu	37	8	135614378	135614378	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:135614378C>T	uc003yup.2	-	c.1584G>A	c.(1582-1584)GTG>GTA	p.V528V	ZFAT_uc003yun.2_Silent_p.V516V|ZFAT_uc003yuo.2_Silent_p.V516V|ZFAT_uc010meh.2_Silent_p.V516V|ZFAT_uc010mei.2_Non-coding_Transcript|ZFAT_uc003yuq.2_Silent_p.V516V|ZFAT_uc010mej.2_Silent_p.V466V|ZFAT_uc003yur.2_Silent_p.V516V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)											0.4	10.496754	10.584498	4	6	KEEP	---	---	---	---	capture		Silent	SNP	135614378	135614378	18220	8	C	T	T	T	366	29	ZFAT	2	2
FAM135B	51059	broad.mit.edu	37	8	139153486	139153486	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139153486G>A	uc003yuy.2	-	c.3745C>T	c.(3745-3747)CCT>TCT	p.P1249S	FAM135B_uc003yux.2_Missense_Mutation_p.P1150S|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1249										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.261905	52.905835	57.219998	22	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139153486	139153486	5646	8	G	A	A	A	546	42	FAM135B	2	2
COL22A1	169044	broad.mit.edu	37	8	139606341	139606341	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139606341C>A	uc003yvd.2	-	c.4534G>T	c.(4534-4536)GGC>TGC	p.G1512C	COL22A1_uc011ljo.1_Missense_Mutation_p.G792C	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1512	Pro-rich.|Gly-rich.|Collagen-like 15.				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)											0.526316	61.301854	61.324923	20	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139606341	139606341	3819	8	C	A	A	A	312	24	COL22A1	2	2
DENND3	22898	broad.mit.edu	37	8	142161885	142161885	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:142161885C>T	uc003yvy.2	+	c.783C>T	c.(781-783)CCC>CCT	p.P261P	DENND3_uc010mep.2_Silent_p.P274P	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	261	DENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)											0.631579	113.907512	114.773415	36	21	KEEP	---	---	---	---	capture		Silent	SNP	142161885	142161885	4611	8	C	T	T	T	262	21	DENND3	2	2
BAI1	575	broad.mit.edu	37	8	143558745	143558745	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143558745G>T	uc003ywm.2	+	c.1223_splice	c.e5-1	p.V408_splice		NM_001702	NP_001693			brain-specific angiogenesis inhibitor 1						axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)									829				0.6	18.95107	19.038336	6	4	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	143558745	143558745	1319	8	G	T	T	T	468	36	BAI1	5	2
GPIHBP1	338328	broad.mit.edu	37	8	144297147	144297147	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144297147G>T	uc003yxu.1	+	c.309G>T	c.(307-309)CTG>CTT	p.L103L		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	103	UPAR/Ly6.				cholesterol homeostasis|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|high-density lipoprotein particle|integral to membrane	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.3125	13.868965	14.36983	5	11	KEEP	---	---	---	---	capture		Silent	SNP	144297147	144297147	6886	8	G	T	T	T	574	45	GPIHBP1	2	2
SPATC1	375686	broad.mit.edu	37	8	145101742	145101742	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145101742T>A	uc011lkw.1	+	c.1661T>A	c.(1660-1662)CTG>CAG	p.L554Q	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	554										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.5	13.200039	13.200039	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145101742	145101742	15527	8	T	A	A	A	715	55	SPATC1	3	3
TUSC3	7991	broad.mit.edu	37	8	15601106	15601106	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:15601106G>T	uc003wwt.2	+	c.922G>T	c.(922-924)GTT>TTT	p.V308F	TUSC3_uc003wwu.2_Missense_Mutation_p.V308F|TUSC3_uc003wwv.2_Missense_Mutation_p.V308F|TUSC3_uc003www.2_Missense_Mutation_p.V308F|TUSC3_uc003wwx.2_Non-coding_Transcript|TUSC3_uc003wwy.2_3'UTR	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	308					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)										0.318584	105.163627	108.46714	36	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15601106	15601106	17334	8	G	T	T	T	624	48	TUSC3	2	2
SLC7A2	6542	broad.mit.edu	37	8	17419520	17419520	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17419520C>A	uc011kye.1	+	c.1692C>A	c.(1690-1692)GCC>GCA	p.A564A	SLC7A2_uc011kyc.1_Silent_p.A524A|SLC7A2_uc011kyd.1_Silent_p.A563A|SLC7A2_uc011kyf.1_Silent_p.A524A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	524	Extracellular (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)	2				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)									0.408163	57.094515	57.454305	20	29	KEEP	---	---	---	---	capture		Silent	SNP	17419520	17419520	15194	8	C	A	A	A	301	24	SLC7A2	2	2
SH2D4A	63898	broad.mit.edu	37	8	19221630	19221630	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:19221630C>G	uc003wzb.2	+	c.754C>G	c.(754-756)CAA>GAA	p.Q252E	SH2D4A_uc011kym.1_Missense_Mutation_p.Q207E|SH2D4A_uc003wzc.2_Missense_Mutation_p.Q252E	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	252						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)										0.40625	86.04092	86.531679	26	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19221630	19221630	14726	8	C	G	G	G	221	17	SH2D4A	3	3
LOXL2	4017	broad.mit.edu	37	8	23198531	23198531	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:23198531C>G	uc003xdh.1	-	c.717G>C	c.(715-717)GAG>GAC	p.E239D		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	239	SRCR 2.				aging|cell adhesion|oxidation-reduction process|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)										0.342105	42.464473	43.301086	13	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23198531	23198531	9273	8	C	G	G	G	415	32	LOXL2	3	3
ADAMDEC1	27299	broad.mit.edu	37	8	24242021	24242021	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24242021C>A	uc003xdz.2	+	c.4C>A	c.(4-6)CTG>ATG	p.L2M	ADAMDEC1_uc010lub.2_De_novo_Start_InFrame|ADAMDEC1_uc011lab.1_De_novo_Start_OutOfFrame	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	2					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding				0		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		Ovarian(147;687 1849 3699 25981 31337)								0.45	27.572214	27.615828	9	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24242021	24242021	255	8	C	A	A	A	363	28	ADAMDEC1	2	2
KIF13B	23303	broad.mit.edu	37	8	29006279	29006279	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:29006279T>C	uc003xhh.3	-	c.1628A>G	c.(1627-1629)AAT>AGT	p.N543S	KIF13B_uc003xhj.2_Missense_Mutation_p.N440S|KIF13B_uc010lvf.1_Missense_Mutation_p.N479S	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	543					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)										0.45098	79.428536	79.533713	23	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29006279	29006279	8586	8	T	C	C	C	676	52	KIF13B	4	4
CSMD1	64478	broad.mit.edu	37	8	2966135	2966135	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2966135G>A	uc011kwk.1	-	c.6747C>T	c.(6745-6747)CTC>CTT	p.L2249L	CSMD1_uc011kwj.1_Silent_p.L1641L|CSMD1_uc010lrg.2_Silent_p.L317L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2249	Extracellular (Potential).|CUB 13.					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)										0.615385	24.301248	24.452562	8	5	KEEP	---	---	---	---	capture		Silent	SNP	2966135	2966135	4085	8	G	A	A	A	574	45	CSMD1	2	2
WRN	7486	broad.mit.edu	37	8	30974033	30974033	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30974033G>T	uc003xio.3	+	c.2437G>T	c.(2437-2439)GAT>TAT	p.D813Y	WRN_uc010lvk.2_Missense_Mutation_p.D280Y	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	813	Helicase C-terminal.				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				0.625	46.828794	47.157505	15	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30974033	30974033	17976	8	G	T	T	T	429	33	WRN	2	2
ADRB3	155	broad.mit.edu	37	8	37823637	37823637	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37823637G>T	uc003xkr.1	-	c.351C>A	c.(349-351)GAC>GAA	p.D117E		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	117	Helical; Name=3; (By similarity).	Agonist or antagonist (By similarity).			carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity				0	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)									0.428571	9.224838	9.255748	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37823637	37823637	343	8	G	T	T	T	516	40	ADRB3	1	1
CSMD1	64478	broad.mit.edu	37	8	3855503	3855503	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3855503G>A	uc011kwk.1	-	c.740C>T	c.(739-741)GCG>GTG	p.A247V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	247	Extracellular (Potential).|CUB 2.					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)										0.5	18.750155	18.750155	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3855503	3855503	4085	8	G	A	A	A	494	38	CSMD1	1	1
PXDNL	137902	broad.mit.edu	37	8	52258450	52258450	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52258450G>T	uc003xqu.3	-	c.3959C>A	c.(3958-3960)TCA>TAA	p.S1320*	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1320					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)												0.173913	8.085316	10.394092	4	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52258450	52258450	13306	8	G	T	T	T	585	45	PXDNL	5	2
PCMTD1	115294	broad.mit.edu	37	8	52758236	52758236	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52758236C>A	uc003xqx.3	-	c.395G>T	c.(394-396)AGT>ATT	p.S132I	PCMTD1_uc003xqw.3_Missense_Mutation_p.S132I|PCMTD1_uc011ldn.1_5'UTR|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.S132I	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	132						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)												0.3125	14.669165	15.169909	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52758236	52758236	12006	8	C	A	A	A	260	20	PCMTD1	2	2
ST18	9705	broad.mit.edu	37	8	53062520	53062520	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53062520C>A	uc003xqz.2	-	c.1824G>T	c.(1822-1824)GTG>GTT	p.V608V	ST18_uc011ldq.1_Silent_p.V255V|ST18_uc011ldr.1_Silent_p.V573V|ST18_uc011lds.1_Silent_p.V513V|ST18_uc003xra.2_Silent_p.V608V|ST18_uc003xrb.2_Silent_p.V608V	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	608						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.240741	33.947305	37.259462	13	41	KEEP	---	---	---	---	capture		Silent	SNP	53062520	53062520	15730	8	C	A	A	A	262	21	ST18	2	2
SDR16C5	195814	broad.mit.edu	37	8	57228789	57228789	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57228789C>A	uc010lyk.1	-	c.118G>T	c.(118-120)GGT>TGT	p.G40C	SDR16C5_uc003xsy.1_Missense_Mutation_p.G40C|SDR16C5_uc010lyl.1_Missense_Mutation_p.G40C	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	40					detection of light stimulus involved in visual perception|keratinocyte proliferation|oxidation-reduction process|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)	2														0.333333	33.087698	33.973474	12	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57228789	57228789	14457	8	C	A	A	A	273	21	SDR16C5	2	2
CHD7	55636	broad.mit.edu	37	8	61655554	61655554	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61655554G>A	uc003xue.2	+	c.1563G>A	c.(1561-1563)CCG>CCA	p.P521P		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	521	Pro-rich.				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)											0.4	31.151459	31.367973	10	15	KEEP	---	---	---	---	capture		Silent	SNP	61655554	61655554	3464	8	G	A	A	A	496	39	CHD7	1	1
CYP7B1	9420	broad.mit.edu	37	8	65509357	65509357	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:65509357C>A	uc003xvj.2	-	c.1363G>T	c.(1363-1365)GCA>TCA	p.A455S		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	455					bile acid biosynthetic process|cell death|cholesterol metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)												0.3125	28.038925	29.040104	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65509357	65509357	4362	8	C	A	A	A	325	25	CYP7B1	2	2
ARFGEF1	10565	broad.mit.edu	37	8	68188307	68188307	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68188307T>A	uc003xxo.1	-	c.1241A>T	c.(1240-1242)AAG>ATG	p.K414M		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	414					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)							932				0.25	17.310886	18.90214	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68188307	68188307	863	8	T	A	A	A	728	56	ARFGEF1	3	3
KCNB2	9312	broad.mit.edu	37	8	73849145	73849145	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:73849145G>A	uc003xzb.2	+	c.1555G>A	c.(1555-1557)GAC>AAC	p.D519N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	519	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4	Breast(64;0.137)		Epithelial(68;0.105)											0.531915	234.427457	234.552271	75	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73849145	73849145	8318	8	G	A	A	A	429	33	KCNB2	2	2
ZFHX4	79776	broad.mit.edu	37	8	77761891	77761891	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77761891G>T	uc003yav.2	+	c.3654G>T	c.(3652-3654)CTG>CTT	p.L1218L	ZFHX4_uc003yau.1_Silent_p.L1263L|ZFHX4_uc003yaw.1_Silent_p.L1218L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1218	C2H2-type 9.				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)											0.240506	45.788365	50.641238	19	60	KEEP	---	---	---	---	capture		Silent	SNP	77761891	77761891	18223	8	G	T	T	T	587	46	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77766690	77766690	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77766690C>A	uc003yav.2	+	c.7398C>A	c.(7396-7398)CAC>CAA	p.H2466Q	ZFHX4_uc003yau.1_Missense_Mutation_p.H2511Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H2466Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2466	C2H2-type 16.				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)											0.5	225.706765	225.706765	72	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77766690	77766690	18223	8	C	A	A	A	233	18	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77768370	77768370	+	Silent	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77768370A>G	uc003yav.2	+	c.9078A>G	c.(9076-9078)TCA>TCG	p.S3026S	ZFHX4_uc003yau.1_Silent_p.S3071S|ZFHX4_uc003yaw.1_Silent_p.S3026S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3026					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)											0.315789	87.817466	90.683909	30	65	KEEP	---	---	---	---	capture		Silent	SNP	77768370	77768370	18223	8	A	G	G	G	80	7	ZFHX4	4	4
CNGB3	54714	broad.mit.edu	37	8	87738838	87738838	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87738838C>G	uc003ydx.2	-	c.259G>C	c.(259-261)GAC>CAC	p.D87H		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	87	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.462366	297.23711	297.466223	86	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87738838	87738838	3739	8	C	G	G	G	377	29	CNGB3	3	3
SLC26A7	115111	broad.mit.edu	37	8	92401582	92401582	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92401582C>A	uc003yez.2	+	c.1692C>A	c.(1690-1692)TCC>TCA	p.S564S	SLC26A7_uc003yex.2_Silent_p.S564S|SLC26A7_uc003yey.2_Non-coding_Transcript|SLC26A7_uc003yfa.2_Silent_p.S564S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform b	564	STAS.|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)											0.487805	190.792791	190.808826	60	63	KEEP	---	---	---	---	capture		Silent	SNP	92401582	92401582	15019	8	C	A	A	A	301	24	SLC26A7	2	2
RUNX1T1	862	broad.mit.edu	37	8	93017350	93017350	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:93017350G>T	uc011lgi.1	-	c.767C>A	c.(766-768)CCA>CAA	p.P256Q	RUNX1T1_uc003yfc.1_Missense_Mutation_p.P218Q|RUNX1T1_uc003yfd.2_Missense_Mutation_p.P245Q|RUNX1T1_uc003yfe.1_Missense_Mutation_p.P208Q|RUNX1T1_uc010mao.2_Missense_Mutation_p.P218Q|RUNX1T1_uc003yfb.1_Missense_Mutation_p.P208Q|RUNX1T1_uc003yff.1_Missense_Mutation_p.P208Q	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	245					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				0.263514	97.650206	105.23164	39	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93017350	93017350	14227	8	G	T	T	T	611	47	RUNX1T1	2	2
TNKS	8658	broad.mit.edu	37	8	9413471	9413471	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:9413471C>T	uc003wss.2	+	c.22C>T	c.(22-24)CAG>TAG	p.Q8*	TNKS_uc011kwv.1_Nonsense_Mutation_p.Q8*	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	8					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein transport|spindle assembly|transmembrane transport	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			ovary(1)|kidney(1)	2				COAD - Colon adenocarcinoma(149;0.0467)										0.25	9.491993	10.401323	4	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9413471	9413471	16860	8	C	T	T	T	377	29	TNKS	5	2
GDF6	392255	broad.mit.edu	37	8	97172668	97172668	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97172668G>C	uc003yhp.2	-	c.253C>G	c.(253-255)CCG>GCG	p.P85A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	85					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)													0.207547	24.463848	28.711188	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97172668	97172668	6585	8	G	C	C	C	546	42	GDF6	3	3
UQCRB	7381	broad.mit.edu	37	8	97243333	97243333	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97243333T>C	uc003yhq.3	-	c.286A>G	c.(286-288)AAA>GAA	p.K96E	UQCRB_uc011lgt.1_Non-coding_Transcript|UQCRB_uc010mbc.2_Non-coding_Transcript	NM_006294	NP_006285	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding	96					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			ovary(1)	1	Breast(36;5.16e-05)													0.212389	62.621204	71.285683	24	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97243333	97243333	17579	8	T	C	C	C	806	62	UQCRB	4	4
OR13C9	286362	broad.mit.edu	37	9	107380116	107380116	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107380116C>A	uc011lvr.1	-	c.370G>T	c.(370-372)GTG>TTG	p.V124L		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.59434	209.548427	210.375415	63	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107380116	107380116	11345	9	C	A	A	A	221	17	OR13C9	2	2
NIPSNAP3B	55335	broad.mit.edu	37	9	107533128	107533128	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107533128A>T	uc004bci.2	+	c.431_splice	c.e4-2	p.G144_splice	NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_Splice_Site_SNP	NM_018376	NP_060846			nipsnap homolog 3B											pancreas(1)	1														0.731707	102.168138	104.155969	30	11	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	107533128	107533128	10832	9	A	T	T	T	195	15	NIPSNAP3B	5	3
ABCA1	19	broad.mit.edu	37	9	107599711	107599711	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107599711C>T	uc004bcl.2	-	c.1192G>A	c.(1192-1194)GAG>AAG	p.E398K		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	398	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.391304	25.368895	25.607189	9	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107599711	107599711	29	9	C	T	T	T	377	29	ABCA1	2	2
ABCA1	19	broad.mit.edu	37	9	107607837	107607837	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107607837G>A	uc004bcl.2	-	c.734C>T	c.(733-735)TCT>TTT	p.S245F		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	245	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.533333	24.900168	24.914598	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107607837	107607837	29	9	G	A	A	A	429	33	ABCA1	2	2
MUSK	4593	broad.mit.edu	37	9	113562632	113562632	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113562632G>T	uc004bey.2	+	c.1974G>T	c.(1972-1974)ATG>ATT	p.M658I	MUSK_uc004bez.1_Missense_Mutation_p.M238I	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	658	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|lung(2)|central_nervous_system(1)	5										297				0.567376	257.722166	258.282662	80	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113562632	113562632	10383	9	G	T	T	T	611	47	MUSK	2	2
C9orf84	158401	broad.mit.edu	37	9	114518680	114518680	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114518680C>A	uc004bfr.2	-	c.595G>T	c.(595-597)GAA>TAA	p.E199*	C9orf84_uc011lwt.1_Non-coding_Transcript|C9orf84_uc004bfs.1_Nonsense_Mutation_p.E263*|C9orf84_uc004bfq.2_Nonsense_Mutation_p.E160*|C9orf84_uc010mug.2_Nonsense_Mutation_p.E145*	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	199										ovary(2)	2														0.125	3.306818	6.606391	3	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	114518680	114518680	2616	9	C	A	A	A	416	32	C9orf84	5	2
TNC	3371	broad.mit.edu	37	9	117792633	117792633	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117792633C>T	uc004bjj.3	-	c.5972G>A	c.(5971-5973)GGA>GAA	p.G1991E	TNC_uc010mvf.2_Missense_Mutation_p.G1718E	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1991	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.131579	13.841262	23.831047	10	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117792633	117792633	16811	9	C	T	T	T	390	30	TNC	2	2
TNC	3371	broad.mit.edu	37	9	117838357	117838357	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117838357C>T	uc004bjj.3	-	c.2904G>A	c.(2902-2904)GTG>GTA	p.V968V	TNC_uc010mvf.2_Silent_p.V968V	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	968	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.362637	90.542898	92.056638	33	58	KEEP	---	---	---	---	capture		Silent	SNP	117838357	117838357	16811	9	C	T	T	T	366	29	TNC	2	2
PAPPA	5069	broad.mit.edu	37	9	119065222	119065222	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119065222C>A	uc004bjn.2	+	c.3140C>A	c.(3139-3141)GCA>GAA	p.A1047E	PAPPA_uc011lxp.1_Missense_Mutation_p.A742E|PAPPA_uc011lxq.1_Missense_Mutation_p.A422E	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1047					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|pancreas(1)	5										611				0.61194	134.188818	134.924662	41	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119065222	119065222	11849	9	C	A	A	A	325	25	PAPPA	2	2
DBC1	1620	broad.mit.edu	37	9	122075593	122075593	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:122075593A>G	uc004bkc.2	-	c.41T>C	c.(40-42)ATA>ACA	p.I14T	DBC1_uc004bkd.2_Missense_Mutation_p.I14T	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	14					cell cycle arrest|cell death	cytoplasm	protein binding			ovary(2)|central_nervous_system(2)|large_intestine(1)	5														0.183673	19.545337	24.148085	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122075593	122075593	4418	9	A	G	G	G	208	16	DBC1	4	4
CDK5RAP2	55755	broad.mit.edu	37	9	123215791	123215791	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123215791C>A	uc004bkf.2	-	c.2736G>T	c.(2734-2736)CTG>CTT	p.L912L	CDK5RAP2_uc004bke.2_Silent_p.L197L|CDK5RAP2_uc004bkg.2_Silent_p.L912L|CDK5RAP2_uc011lxw.1_Silent_p.L177L|CDK5RAP2_uc011lxx.1_Non-coding_Transcript|CDK5RAP2_uc011lxy.1_Non-coding_Transcript|CDK5RAP2_uc011lxz.1_Silent_p.L177L|CDK5RAP2_uc011lya.1_Silent_p.L177L|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Silent_p.L679L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	912					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4														0.470588	147.190941	147.267777	48	54	KEEP	---	---	---	---	capture		Silent	SNP	123215791	123215791	3275	9	C	A	A	A	314	25	CDK5RAP2	2	2
CEP110	11064	broad.mit.edu	37	9	123924434	123924434	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123924434C>A	uc004bkx.1	+	c.5308C>A	c.(5308-5310)CGA>AGA	p.R1770R	CEP110_uc004blb.1_Silent_p.R439R|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CE110_HUMAN	centrosomal protein 110kDa	1770	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			ovary(3)|skin(1)	4										584				0.607143	118.167629	118.733478	34	22	KEEP	---	---	---	---	capture		Silent	SNP	123924434	123924434	3378	9	C	A	A	A	243	19	CEP110	1	1
OR1L1	26737	broad.mit.edu	37	9	125424391	125424391	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125424391A>G	uc011lza.1	+	c.547A>G	c.(547-549)ATC>GTC	p.I183V		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	183	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.088889	3.841747	42.259624	20	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125424391	125424391	11369	9	A	G	G	G	104	8	OR1L1	4	4
ZBTB34	403341	broad.mit.edu	37	9	129641787	129641787	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:129641787G>C	uc004bqm.3	+	c.97G>C	c.(97-99)GAC>CAC	p.D33H		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	33	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.571429	27.401779	27.463976	8	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129641787	129641787	18123	9	G	C	C	C	585	45	ZBTB34	3	3
PRRX2	51450	broad.mit.edu	37	9	132484547	132484547	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:132484547C>T	uc004byh.2	+	c.678C>T	c.(676-678)GTC>GTT	p.V226V		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	226					regulation of transcription, DNA-dependent	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			pancreas(1)	1		Ovarian(14;0.00556)												0.272727	6.920058	7.432366	3	8	KEEP	---	---	---	---	capture		Silent	SNP	132484547	132484547	13063	9	C	T	T	T	366	29	PRRX2	2	2
FNBP1	23048	broad.mit.edu	37	9	132662795	132662795	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:132662795G>T	uc004byw.1	-	c.1460C>A	c.(1459-1461)CCA>CAA	p.P487Q	FNBP1_uc011mbv.1_Missense_Mutation_p.P477Q|FNBP1_uc011mbw.1_Missense_Mutation_p.P482Q|FNBP1_uc004bza.2_Missense_Mutation_p.P421Q|FNBP1_uc004byz.1_Missense_Mutation_p.P458Q|FNBP1_uc011mbu.1_Missense_Mutation_p.P115Q|FNBP1_uc004byx.1_Missense_Mutation_p.P403Q|FNBP1_uc004byy.1_Missense_Mutation_p.P393Q	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	487	Required for self-association and induction of membrane tubulation.|Interaction with RND2 (By similarity).|REM.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)						547				0.25	6.618127	7.300886	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132662795	132662795	6207	9	G	T	T	T	611	47	FNBP1	2	2
FAM78A	286336	broad.mit.edu	37	9	134136572	134136572	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134136572G>A	uc004cak.2	-	c.489C>T	c.(487-489)TAC>TAT	p.Y163Y	FAM78A_uc004caj.2_Silent_p.Y160Y	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	163										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)										0.387755	54.957997	55.483213	19	30	KEEP	---	---	---	---	capture		Silent	SNP	134136572	134136572	5852	9	G	A	A	A	568	44	FAM78A	2	2
PPAPDC3	84814	broad.mit.edu	37	9	134183499	134183499	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134183499T>A	uc004cal.2	+	c.641T>A	c.(640-642)CTG>CAG	p.L214Q		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	214	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)										0.666667	12.300486	12.44769	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134183499	134183499	12726	9	T	A	A	A	715	55	PPAPDC3	3	3
SETX	23064	broad.mit.edu	37	9	135139986	135139986	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135139986T>A	uc004cbk.2	-	c.7674A>T	c.(7672-7674)CCA>CCT	p.P2558P	SETX_uc004cbj.2_Silent_p.P2206P|SETX_uc010mzt.2_Silent_p.P2144P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2558					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)										0.439024	52.643972	52.776697	18	23	KEEP	---	---	---	---	capture		Silent	SNP	135139986	135139986	14630	9	T	A	A	A	756	59	SETX	3	3
GTF3C5	9328	broad.mit.edu	37	9	135933286	135933286	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135933286G>A	uc004ccj.3	+	c.1500G>A	c.(1498-1500)GAG>GAA	p.E500E	GTF3C5_uc004cci.3_Silent_p.E493E	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	493	Glu-rich.|Poly-Glu.				5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)										0.416667	31.945916	32.091428	10	14	KEEP	---	---	---	---	capture		Silent	SNP	135933286	135933286	7156	9	G	A	A	A	451	35	GTF3C5	2	2
FAM154A	158297	broad.mit.edu	37	9	18928115	18928115	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18928115T>A	uc003zni.1	-	c.1360A>T	c.(1360-1362)AGC>TGC	p.S454C	FAM154A_uc010mip.1_Missense_Mutation_p.S262C	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	454										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)										0.58427	158.799153	159.348798	52	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18928115	18928115	5661	9	T	A	A	A	702	54	FAM154A	3	3
IFNA17	3451	broad.mit.edu	37	9	21227742	21227742	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21227742C>T	uc003zos.1	-	c.431G>A	c.(430-432)AGG>AAG	p.R144K	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	144					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)										0.572614	462.174486	463.281068	138	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21227742	21227742	7837	9	C	T	T	T	312	24	IFNA17	2	2
LINGO2	158038	broad.mit.edu	37	9	27949430	27949430	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:27949430C>A	uc003zqu.1	-	c.1240G>T	c.(1240-1242)GAA>TAA	p.E414*	LINGO2_uc010mjf.1_Nonsense_Mutation_p.E414*|LINGO2_uc003zqv.1_Nonsense_Mutation_p.E414*	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	414	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)										0.311828	76.470551	79.386784	29	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27949430	27949430	9142	9	C	A	A	A	377	29	LINGO2	5	2
TAF1L	138474	broad.mit.edu	37	9	32634595	32634595	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32634595T>A	uc003zrg.1	-	c.983A>T	c.(982-984)GAT>GTT	p.D328V		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	328					male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.114583	11.257915	25.314415	11	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32634595	32634595	16044	9	T	A	A	A	650	50	TAF1L	3	3
KIF24	347240	broad.mit.edu	37	9	34255866	34255866	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34255866T>A	uc003zua.3	-	c.3739A>T	c.(3739-3741)AAC>TAC	p.N1247Y	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1247					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0			LUSC - Lung squamous cell carcinoma(29;0.0107)									OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.75	115.916839	118.642037	36	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34255866	34255866	8603	9	T	A	A	A	819	63	KIF24	3	3
NPR2	4882	broad.mit.edu	37	9	35802274	35802274	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35802274C>G	uc003zyd.2	+	c.1704C>G	c.(1702-1704)CTC>CTG	p.L568L	NPR2_uc010mlb.2_Silent_p.L568L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	568	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|ossification|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(2)	2	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)					170				0.06962	-4.085527	26.121556	11	147	KEEP	---	---	---	---	capture		Silent	SNP	35802274	35802274	11000	9	C	G	G	G	366	29	NPR2	3	3
RECK	8434	broad.mit.edu	37	9	36105139	36105139	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36105139G>T	uc003zyv.2	+	c.1436_splice	c.e13-1	p.R479_splice	RECK_uc003zyw.2_Splice_Site_SNP_p.R351_splice|RECK_uc003zyx.2_Splice_Site_SNP	NM_021111	NP_066934			RECK protein precursor							anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)											0.086957	-0.033776	7.912206	4	42	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	36105139	36105139	13669	9	G	T	T	T	455	35	RECK	5	2
GLIPR2	152007	broad.mit.edu	37	9	36147842	36147842	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36147842G>C	uc003zyz.2	+	c.73G>C	c.(73-75)GGC>CGC	p.G25R	GLIPR2_uc011lpj.1_Missense_Mutation_p.G25R|GLIPR2_uc010mlf.1_Missense_Mutation_p.G25R|GLIPR2_uc003zza.2_Non-coding_Transcript|GLIPR2_uc003zyy.1_Missense_Mutation_p.G25R	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	25						extracellular region|Golgi membrane				central_nervous_system(1)	1														0.587912	311.160012	312.401001	107	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36147842	36147842	6712	9	G	C	C	C	507	39	GLIPR2	3	3
ZNF658	26149	broad.mit.edu	37	9	40772467	40772467	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40772467T>A	uc004abs.2	-	c.2808A>T	c.(2806-2808)AAA>AAT	p.K936N	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.K936N	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	936					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.595506	164.981699	165.689909	53	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40772467	40772467	18664	9	T	A	A	A	777	60	ZNF658	3	3
KIAA2026	158358	broad.mit.edu	37	9	5922999	5922999	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5922999G>A	uc003zjq.3	-	c.2997C>T	c.(2995-2997)CTC>CTT	p.L999L	KIAA2026_uc010mht.2_Silent_p.L174L	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	999										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)										0.502439	319.54142	319.542696	103	102	KEEP	---	---	---	---	capture		Silent	SNP	5922999	5922999	8581	9	G	A	A	A	522	41	KIAA2026	2	2
FOXD4L3	286380	broad.mit.edu	37	9	70918901	70918901	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:70918901G>T	uc004agm.1	+	c.1034G>T	c.(1033-1035)TGT>TTT	p.C345F		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	345					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)										0.245283	32.866312	35.986526	13	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70918901	70918901	6244	9	G	T	T	T	624	48	FOXD4L3	2	2
PGM5	5239	broad.mit.edu	37	9	71080084	71080084	+	Silent	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71080084A>T	uc004agr.2	+	c.1119A>T	c.(1117-1119)TCA>TCT	p.S373S		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	373					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2														0.484211	150.146457	150.16703	46	49	KEEP	---	---	---	---	capture		Silent	SNP	71080084	71080084	12224	9	A	T	T	T	80	7	PGM5	3	3
FXN	2395	broad.mit.edu	37	9	71661388	71661388	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71661388G>T	uc004aha.2	+	c.253G>T	c.(253-255)GGC>TGC	p.G85C	FXN_uc011lrr.1_Missense_Mutation_p.G85C|FXN_uc004agz.2_Missense_Mutation_p.G85C	NM_000144	NP_000135	Q16595	FRDA_HUMAN	frataxin isoform 1 preproprotein	85					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding				0														0.526316	30.849912	30.861293	10	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71661388	71661388	6365	9	G	T	T	T	559	43	FXN	2	2
TMC1	117531	broad.mit.edu	37	9	75369754	75369754	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:75369754C>A	uc004aiz.1	+	c.695C>A	c.(694-696)GCC>GAC	p.A232D	TMC1_uc010moz.1_Missense_Mutation_p.A190D|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.A86D|TMC1_uc010mpa.1_Missense_Mutation_p.A86D	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	232	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						Pancreas(75;173 1345 14232 34245 43413)								0.714286	47.031202	47.89583	15	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75369754	75369754	16514	9	C	A	A	A	338	26	TMC1	2	2
TRPM6	140803	broad.mit.edu	37	9	77377034	77377034	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77377034C>A	uc004ajl.1	-	c.4553G>T	c.(4552-4554)TGG>TTG	p.W1518L	TRPM6_uc004ajk.1_Missense_Mutation_p.W1513L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.W474L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1518	Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.161765	21.080031	28.480485	11	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77377034	77377034	17141	9	C	A	A	A	273	21	TRPM6	2	2
FLJ46321	389763	broad.mit.edu	37	9	84609843	84609843	+	Silent	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84609843T>G	uc004amn.2	+	c.4458T>G	c.(4456-4458)CCT>CCG	p.P1486P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1486						integral to membrane					0														0.219512	40.802332	46.749914	18	64	KEEP	---	---	---	---	capture		Silent	SNP	84609843	84609843	6174	9	T	G	G	G	678	53	FLJ46321	4	4
PTPRD	5789	broad.mit.edu	37	9	8465578	8465578	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8465578G>T	uc003zkk.2	-	c.3602C>A	c.(3601-3603)ACT>AAT	p.T1201N	PTPRD_uc003zkp.2_Missense_Mutation_p.T790N|PTPRD_uc003zkq.2_Missense_Mutation_p.T790N|PTPRD_uc003zkr.2_Missense_Mutation_p.T785N|PTPRD_uc003zks.2_Missense_Mutation_p.T780N|PTPRD_uc003zkl.2_Missense_Mutation_p.T1192N|PTPRD_uc003zkm.2_Missense_Mutation_p.T1188N|PTPRD_uc003zkn.2_Missense_Mutation_p.T790N|PTPRD_uc003zko.2_Missense_Mutation_p.T787N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1201	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.218935	95.687343	107.984233	37	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8465578	8465578	13256	9	G	T	T	T	468	36	PTPRD	2	2
PTPRD	5789	broad.mit.edu	37	9	8484291	8484291	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8484291A>G	uc003zkk.2	-	c.3241T>C	c.(3241-3243)TAT>CAT	p.Y1081H	PTPRD_uc003zkp.2_Missense_Mutation_p.Y670H|PTPRD_uc003zkq.2_Missense_Mutation_p.Y670H|PTPRD_uc003zkr.2_Missense_Mutation_p.Y665H|PTPRD_uc003zks.2_Missense_Mutation_p.Y660H|PTPRD_uc003zkl.2_Missense_Mutation_p.Y1072H|PTPRD_uc003zkm.2_Missense_Mutation_p.Y1068H|PTPRD_uc003zkn.2_Missense_Mutation_p.Y670H|PTPRD_uc003zko.2_Missense_Mutation_p.Y667H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1081	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.121212	6.677944	11.316394	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8484291	8484291	13256	9	A	G	G	G	208	16	PTPRD	4	4
PTPRD	5789	broad.mit.edu	37	9	8517911	8517911	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8517911C>A	uc003zkk.2	-	c.1480G>T	c.(1480-1482)GCT>TCT	p.A494S	PTPRD_uc003zkp.2_Missense_Mutation_p.A494S|PTPRD_uc003zkq.2_Missense_Mutation_p.A494S|PTPRD_uc003zkr.2_Missense_Mutation_p.A488S|PTPRD_uc003zks.2_Missense_Mutation_p.A484S|PTPRD_uc003zkl.2_Missense_Mutation_p.A494S|PTPRD_uc003zkm.2_Missense_Mutation_p.A481S|PTPRD_uc003zkn.2_Missense_Mutation_p.A494S|PTPRD_uc003zko.2_Missense_Mutation_p.A491S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	494	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.135802	13.862989	24.287847	11	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8517911	8517911	13256	9	C	A	A	A	338	26	PTPRD	2	2
KIF27	55582	broad.mit.edu	37	9	86518256	86518256	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86518256T>A	uc004ana.2	-	c.1177A>T	c.(1177-1179)AGG>TGG	p.R393W	KIF27_uc010mpw.2_Missense_Mutation_p.R393W|KIF27_uc010mpx.2_Missense_Mutation_p.R393W	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	393	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.151163	23.516769	33.544767	13	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86518256	86518256	8607	9	T	A	A	A	687	53	KIF27	3	3
IARS	3376	broad.mit.edu	37	9	94973092	94973092	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94973092G>A	uc004art.1	-	c.3786C>T	c.(3784-3786)TTC>TTT	p.F1262F	IARS_uc004ars.1_Silent_p.F1055F|IARS_uc004aru.3_Silent_p.F1262F|IARS_uc010mqr.2_Silent_p.F1152F|IARS_uc004arr.1_Non-coding_Transcript	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	1262					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.307692	21.487973	22.346519	8	18	KEEP	---	---	---	---	capture		Silent	SNP	94973092	94973092	7773	9	G	A	A	A	425	33	IARS	2	2
FAM120A	23196	broad.mit.edu	37	9	96323466	96323466	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96323466G>T	uc004atw.2	+	c.2882G>T	c.(2881-2883)AGG>ATG	p.R961M	FAM120A_uc004aty.2_Missense_Mutation_p.R742M|FAM120A_uc004atz.2_Missense_Mutation_p.R609M|FAM120A_uc010mrg.2_Missense_Mutation_p.R228M|FAM120A_uc004aua.1_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	961	RNA binding.					cytoplasm|plasma membrane	RNA binding				0														0.454545	14.772542	14.792444	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96323466	96323466	5612	9	G	T	T	T	455	35	FAM120A	2	2
DMRT3	58524	broad.mit.edu	37	9	990773	990773	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:990773C>T	uc003zgw.1	+	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	396					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)										0.1875	5.717004	7.179403	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	990773	990773	4767	9	C	T	T	T	247	19	DMRT3	1	1
NOX1	27035	broad.mit.edu	37	X	100099015	100099015	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100099015G>T	uc004egj.2	-	c.1621C>A	c.(1621-1623)CGC>AGC	p.R541S	NOX1_uc004egl.3_Missense_Mutation_p.R492S|NOX1_uc010nne.2_Missense_Mutation_p.R504S	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	541	Cytoplasmic (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|NADP metabolic process|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|NADP binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1														0.425532	61.992731	62.220056	20	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100099015	100099015	10960	23	G	T	T	T	494	38	NOX1	1	1
DRP2	1821	broad.mit.edu	37	X	100496798	100496798	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100496798T>A	uc004egz.2	+	c.701T>A	c.(700-702)TTG>TAG	p.L234*	DRP2_uc011mrh.1_Nonsense_Mutation_p.L156*	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	234	Spectrin 2.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2														0.16	8.799746	11.538503	4	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100496798	100496798	4948	23	T	A	A	A	819	63	DRP2	5	3
DRP2	1821	broad.mit.edu	37	X	100496812	100496812	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100496812G>T	uc004egz.2	+	c.715G>T	c.(715-717)GCA>TCA	p.A239S	DRP2_uc011mrh.1_Missense_Mutation_p.A161S	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	239	Spectrin 2.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2														0.55	35.727494	35.771147	11	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100496812	100496812	4948	23	G	T	T	T	546	42	DRP2	2	2
GLA	2717	broad.mit.edu	37	X	100653084	100653084	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100653084C>T	uc004ehl.1	-	c.1003G>A	c.(1003-1005)GAC>AAC	p.D335N		NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	335					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	alpha-galactosidase activity|cation binding|protein homodimerization activity|receptor binding				0					Agalsidase beta(DB00103)	Colon(193;776 2816 31189 44474)								0.3125	28.836652	29.839114	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100653084	100653084	6694	23	C	T	T	T	416	32	GLA	2	2
CLCN4	1183	broad.mit.edu	37	X	10174804	10174804	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:10174804C>T	uc004csy.3	+	c.831C>T	c.(829-831)TTC>TTT	p.F277F	CLCN4_uc011mid.1_Silent_p.F183F	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	277						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)	4						Melanoma(74;1050 1296 1576 30544 38374)								0.378531	192.574595	194.868832	67	110	KEEP	---	---	---	---	capture		Silent	SNP	10174804	10174804	3601	23	C	T	T	T	376	29	CLCN4	2	2
CLCN4	1183	broad.mit.edu	37	X	10176537	10176537	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:10176537G>C	uc004csy.3	+	c.1296G>C	c.(1294-1296)CGG>CGC	p.R432R	CLCN4_uc011mid.1_Silent_p.R338R	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	432						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)	4						Melanoma(74;1050 1296 1576 30544 38374)								0.464968	466.455367	466.795602	146	168	KEEP	---	---	---	---	capture		Silent	SNP	10176537	10176537	3601	23	G	C	C	C	535	42	CLCN4	3	3
BHLHB9	80823	broad.mit.edu	37	X	102004415	102004415	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102004415G>C	uc010nog.2	+	c.492G>C	c.(490-492)GGG>GGC	p.G164G	BHLHB9_uc011mrq.1_Silent_p.G164G|BHLHB9_uc011mrr.1_Silent_p.G164G|BHLHB9_uc011mrs.1_Silent_p.G164G|BHLHB9_uc011mrt.1_Silent_p.G164G|BHLHB9_uc004ejo.2_Silent_p.G164G|BHLHB9_uc011mru.1_Silent_p.G164G|BHLHB9_uc011mrv.1_Silent_p.G164G	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	164						cytoplasm|nucleus	binding			ovary(2)	2														0.255319	110.471066	120.654517	48	140	KEEP	---	---	---	---	capture		Silent	SNP	102004415	102004415	1445	23	G	C	C	C	548	43	BHLHB9	3	3
NXF3	56000	broad.mit.edu	37	X	102337945	102337945	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102337945G>T	uc004eju.2	-	c.678C>A	c.(676-678)CTC>CTA	p.L226L	NXF3_uc010noi.1_Silent_p.L76L|NXF3_uc011mrw.1_Silent_p.L226L|NXF3_uc011mrx.1_Silent_p.L137L	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	226						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.136882	49.407028	82.908111	36	227	KEEP	---	---	---	---	capture		Silent	SNP	102337945	102337945	11190	23	G	T	T	T	522	41	NXF3	2	2
TMEM31	203562	broad.mit.edu	37	X	102968620	102968620	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102968620G>C	uc004elh.2	+	c.201G>C	c.(199-201)ACG>ACC	p.T67T	GLRA4_uc011mse.1_Intron	NM_182541	NP_872347	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	67						integral to membrane					0														0.402685	384.745387	387.210328	120	178	KEEP	---	---	---	---	capture		Silent	SNP	102968620	102968620	16694	23	G	C	C	C	470	37	TMEM31	3	3
IL1RAPL2	26280	broad.mit.edu	37	X	104512090	104512090	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:104512090G>C	uc004elz.1	+	c.563G>C	c.(562-564)TGG>TCG	p.W188S		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	188	Ig-like C2-type 2.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3														0.266667	42.770832	45.723088	16	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104512090	104512090	7963	23	G	C	C	C	611	47	IL1RAPL2	3	3
MID2	11043	broad.mit.edu	37	X	107169511	107169511	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107169511G>T	uc004enl.2	+	c.1785G>T	c.(1783-1785)GTG>GTT	p.V595V	MID2_uc004enk.2_Silent_p.V565V	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	595	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1														0.257143	23.818155	25.651084	9	26	KEEP	---	---	---	---	capture		Silent	SNP	107169511	107169511	9968	23	G	T	T	T	600	47	MID2	2	2
TEX13B	56156	broad.mit.edu	37	X	107224968	107224968	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107224968C>A	uc004enn.1	-	c.390G>T	c.(388-390)CAG>CAT	p.Q130H		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	130										ovary(1)	1														0.4	177.225105	178.57774	62	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107224968	107224968	16304	23	C	A	A	A	363	28	TEX13B	2	2
TEX13B	56156	broad.mit.edu	37	X	107225336	107225336	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107225336G>C	uc004enn.1	-	c.22C>G	c.(22-24)CCC>GCC	p.P8A		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	8										ovary(1)	1														0.134615	5.980866	12.733957	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107225336	107225336	16304	23	G	C	C	C	559	43	TEX13B	3	3
VSIG1	340547	broad.mit.edu	37	X	107320447	107320447	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107320447C>A	uc011msk.1	+	c.1108C>A	c.(1108-1110)CCA>ACA	p.P370T	VSIG1_uc004eno.2_Missense_Mutation_p.P334T	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	334	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1														0.166667	33.618493	44.969245	18	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107320447	107320447	17789	23	C	A	A	A	286	22	VSIG1	2	2
COL4A6	1288	broad.mit.edu	37	X	107422067	107422067	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107422067C>G	uc004enw.3	-	c.2365G>C	c.(2365-2367)GGG>CGG	p.G789R	COL4A6_uc004env.3_Missense_Mutation_p.G788R|COL4A6_uc011msn.1_Missense_Mutation_p.G788R|COL4A6_uc010npk.2_Missense_Mutation_p.G788R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	789	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.40625	82.145997	82.634991	26	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107422067	107422067	3833	23	C	G	G	G	299	23	COL4A6	3	3
COL4A5	1287	broad.mit.edu	37	X	107838784	107838784	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107838784C>T	uc004enz.1	+	c.1469C>T	c.(1468-1470)TCA>TTA	p.S490L	COL4A5_uc011mso.1_Missense_Mutation_p.S490L|COL4A5_uc004eob.1_Missense_Mutation_p.S98L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	490	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.266667	41.270556	44.222843	16	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107838784	107838784	3832	23	C	T	T	T	377	29	COL4A5	2	2
IRS4	8471	broad.mit.edu	37	X	107976646	107976646	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107976646C>A	uc004eoc.2	-	c.2929G>T	c.(2929-2931)GAT>TAT	p.D977Y		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	977						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|pancreas(1)	9														0.070707	-3.958422	14.863149	7	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107976646	107976646	8146	23	C	A	A	A	416	32	IRS4	2	2
AMMECR1	9949	broad.mit.edu	37	X	109441769	109441769	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109441769C>G	uc004eoo.2	-	c.981G>C	c.(979-981)CCG>CCC	p.P327P	AMMECR1_uc004eop.2_Silent_p.P290P|AMMECR1_uc004eoq.2_Silent_p.P204P	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	327											0														0.093333	3.272272	15.746015	7	68	KEEP	---	---	---	---	capture		Silent	SNP	109441769	109441769	581	23	C	G	G	G	340	27	AMMECR1	3	3
CAPN6	827	broad.mit.edu	37	X	110489962	110489962	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110489962T>A	uc004epc.1	-	c.1769A>T	c.(1768-1770)GAT>GTT	p.D590V	CAPN6_uc011msu.1_Missense_Mutation_p.D335V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	590	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.529412	167.949732	168.026199	54	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110489962	110489962	2748	23	T	A	A	A	650	50	CAPN6	3	3
DCX	1641	broad.mit.edu	37	X	110654123	110654123	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110654123C>A	uc011msv.1	-	c.80G>T	c.(79-81)AGC>ATC	p.S27I	DCX_uc004epd.2_Missense_Mutation_p.S27I|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron	NM_178152	NP_835365	O43602	DCX_HUMAN	doublecortin isoform b	27					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4														0.252941	314.367609	342.700243	129	381	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110654123	110654123	4489	23	C	A	A	A	364	28	DCX	2	2
TRPC5	7224	broad.mit.edu	37	X	111155653	111155653	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111155653G>T	uc004epl.1	-	c.766C>A	c.(766-768)CTG>ATG	p.L256M	TRPC5_uc004epm.1_Missense_Mutation_p.L256M	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	256	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.498246	436.732017	436.732828	142	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111155653	111155653	17133	23	G	T	T	T	438	34	TRPC5	2	2
AMOT	154796	broad.mit.edu	37	X	112035189	112035189	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:112035189G>A	uc004epr.2	-	c.1797C>T	c.(1795-1797)TAC>TAT	p.Y599Y	AMOT_uc004eps.2_Silent_p.Y190Y	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	599	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1														0.139665	37.256419	59.705632	25	154	KEEP	---	---	---	---	capture		Silent	SNP	112035189	112035189	585	23	G	A	A	A	516	40	AMOT	1	1
HTR2C	3358	broad.mit.edu	37	X	114141570	114141570	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114141570G>A	uc004epu.1	+	c.969G>A	c.(967-969)ATG>ATA	p.M323I	HTR2C_uc010nqc.1_Missense_Mutation_p.M323I|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	323	Helical; Name=6; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.100917	7.243002	24.572715	11	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114141570	114141570	7743	23	G	A	A	A	624	48	HTR2C	2	2
MSL3	10943	broad.mit.edu	37	X	11790814	11790814	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11790814C>G	uc004cuw.2	+	c.1456C>G	c.(1456-1458)CTC>GTC	p.L486V	MSL3_uc004cux.2_Missense_Mutation_p.L427V|MSL3_uc011mig.1_Missense_Mutation_p.L337V|MSL3_uc011mih.1_Missense_Mutation_p.L474V|MSL3_uc004cuy.2_Missense_Mutation_p.L320V	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	486					chromatin assembly or disassembly|histone H4-K16 acetylation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromatin|MSL complex	chromatin binding|DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.424242	46.344872	46.510112	14	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11790814	11790814	10272	23	C	G	G	G	416	32	MSL3	3	3
ATP1B4	23439	broad.mit.edu	37	X	119500389	119500389	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119500389G>A	uc004esr.2	+	c.73G>A	c.(73-75)GAT>AAT	p.D25N	ATP1B4_uc004esq.2_Missense_Mutation_p.D25N|ATP1B4_uc011mtx.1_Missense_Mutation_p.D25N|ATP1B4_uc011mty.1_Missense_Mutation_p.D25N	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	25	Nuclear (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2														0.394737	129.844073	130.95037	45	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119500389	119500389	1154	23	G	A	A	A	533	41	ATP1B4	2	2
GRIA3	2892	broad.mit.edu	37	X	122616707	122616707	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:122616707G>C	uc004etq.3	+	c.2497G>C	c.(2497-2499)GGA>CGA	p.G833R	GRIA3_uc004etr.3_Missense_Mutation_p.G833R|GRIA3_uc004ets.3_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	833	Helical; (Potential).		G -> R (in MRX94; reduced receptor expression possibly due to rapid degradation).		glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|pancreas(1)	4					L-Glutamic Acid(DB00142)					217				0.393939	104.398891	105.374691	39	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122616707	122616707	7047	23	G	C	C	C	507	39	GRIA3	3	3
ODZ1	10178	broad.mit.edu	37	X	123518372	123518372	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123518372C>A	uc010nqy.2	-	c.6409G>T	c.(6409-6411)GTG>TTG	p.V2137L	ODZ1_uc011muj.1_Missense_Mutation_p.V2136L|ODZ1_uc004euj.2_Missense_Mutation_p.V2130L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	2130	Extracellular (Potential).|YD 16.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.381679	152.619179	154.227574	50	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123518372	123518372	11239	23	C	A	A	A	221	17	ODZ1	2	2
ODZ1	10178	broad.mit.edu	37	X	123680931	123680931	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123680931G>T	uc010nqy.2	-	c.2444C>A	c.(2443-2445)ACC>AAC	p.T815N	ODZ1_uc011muj.1_Missense_Mutation_p.T814N|ODZ1_uc004euj.2_Missense_Mutation_p.T815N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	815	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.280702	43.875431	46.34015	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123680931	123680931	11239	23	G	T	T	T	572	44	ODZ1	2	2
DCAF12L1	139170	broad.mit.edu	37	X	125686201	125686201	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125686201C>T	uc004eul.2	-	c.391G>A	c.(391-393)GCG>ACG	p.A131T		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	131										skin(3)	3														0.255814	28.748958	31.045565	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125686201	125686201	4435	23	C	T	T	T	351	27	DCAF12L1	1	1
ACTRT1	139741	broad.mit.edu	37	X	127185301	127185301	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:127185301A>T	uc004eum.2	-	c.885T>A	c.(883-885)TAT>TAA	p.Y295*		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	295						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)	4														0.394089	248.866422	250.856148	80	123	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	127185301	127185301	219	23	A	T	T	T	102	8	ACTRT1	5	3
XPNPEP2	7512	broad.mit.edu	37	X	128901640	128901640	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128901640T>C	uc004eut.1	+	c.1802T>C	c.(1801-1803)ATC>ACC	p.I601T		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	601					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0														0.380282	167.227833	169.008624	54	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128901640	128901640	18026	23	T	C	C	C	650	50	XPNPEP2	4	4
UTP14A	10813	broad.mit.edu	37	X	129055435	129055435	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129055435G>T	uc004euz.2	+	c.1220G>T	c.(1219-1221)AGT>ATT	p.S407I	UTP14A_uc011mup.1_Missense_Mutation_p.S355I|UTP14A_uc011muq.1_Missense_Mutation_p.S353I|UTP14A_uc004eva.1_Missense_Mutation_p.S113I	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	407					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2														0.41791	86.486657	86.88109	28	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129055435	129055435	17660	23	G	T	T	T	468	36	UTP14A	2	2
UTP14A	10813	broad.mit.edu	37	X	129059013	129059013	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129059013C>A	uc004euz.2	+	c.1591C>A	c.(1591-1593)CCT>ACT	p.P531T	UTP14A_uc011mup.1_Missense_Mutation_p.P479T|UTP14A_uc011muq.1_Missense_Mutation_p.P477T	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	531					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2														0.313131	175.812636	181.948246	62	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129059013	129059013	17660	23	C	A	A	A	234	18	UTP14A	2	2
BCORL1	63035	broad.mit.edu	37	X	129149333	129149333	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129149333C>T	uc004evb.1	+	c.2585C>T	c.(2584-2586)CCC>CTC	p.P862L	BCORL1_uc010nrd.1_Missense_Mutation_p.P764L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	862					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.386364	50.063906	50.562129	17	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129149333	129149333	1408	23	C	T	T	T	286	22	BCORL1	2	2
AIFM1	9131	broad.mit.edu	37	X	129267393	129267393	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129267393C>G	uc004evg.2	-	c.1343G>C	c.(1342-1344)GGA>GCA	p.G448A	AIFM1_uc011mur.1_Missense_Mutation_p.G96A|AIFM1_uc011mus.1_3'UTR|AIFM1_uc004evh.2_Missense_Mutation_p.G444A|AIFM1_uc004evi.2_Missense_Mutation_p.G161A|AIFM1_uc004evk.2_Non-coding_Transcript	NM_004208	NP_004199	O95831	AIFM1_HUMAN	programmed cell death 8 isoform 1	448	Nuclear localization signal (Potential).|FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|oxidation-reduction process	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(4)|central_nervous_system(1)	5										210				0.301676	329.067429	341.638002	108	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129267393	129267393	429	23	C	G	G	G	390	30	AIFM1	3	3
ARHGAP36	158763	broad.mit.edu	37	X	130215686	130215686	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130215686C>A	uc004evz.2	+	c.47C>A	c.(46-48)CCC>CAC	p.P16H	ARHGAP36_uc004ewa.2_Intron|ARHGAP36_uc004ewb.2_Intron|ARHGAP36_uc004ewc.2_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	16					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.353448	116.37762	118.557745	41	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130215686	130215686	895	23	C	A	A	A	286	22	ARHGAP36	2	2
MST4	51765	broad.mit.edu	37	X	131202584	131202584	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:131202584C>G	uc011mux.1	+	c.650C>G	c.(649-651)GCT>GGT	p.A217G	MST4_uc004ewk.1_Missense_Mutation_p.A195G|MST4_uc004ewl.1_Missense_Mutation_p.A118G|MST4_uc010nrj.1_Missense_Mutation_p.A195G|MST4_uc004ewm.1_Missense_Mutation_p.A195G	NM_016542	NP_057626	Q9P289	MST4_HUMAN	serine/threonine protein kinase MST4 isoform 1	195	Protein kinase.				cellular component disassembly involved in apoptosis|protein phosphorylation|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	6	Acute lymphoblastic leukemia(192;0.000127)									51				0.460526	118.420659	118.523488	35	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131202584	131202584	10285	23	C	G	G	G	364	28	MST4	3	3
DDX26B	203522	broad.mit.edu	37	X	134680395	134680395	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134680395G>T	uc004eyw.3	+	c.429_splice	c.e4+1	p.E143_splice		NM_182540	NP_872346			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide												0	Acute lymphoblastic leukemia(192;6.56e-05)													0.208333	11.362241	13.252815	5	19	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	134680395	134680395	4524	23	G	T	T	T	572	44	DDX26B	5	2
FHL1	2273	broad.mit.edu	37	X	135288734	135288734	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135288734G>T	uc004ezo.2	+	c.143G>T	c.(142-144)GGT>GTT	p.G48V	FHL1_uc010nrz.2_Missense_Mutation_p.G48V|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Missense_Mutation_p.G48V|FHL1_uc004ezq.2_Missense_Mutation_p.G48V|FHL1_uc011mvy.1_Missense_Mutation_p.G48V|FHL1_uc011mvz.1_Missense_Mutation_p.G48V|FHL1_uc004ezn.2_Missense_Mutation_p.G48V|FHL1_uc011mwa.1_Missense_Mutation_p.G77V|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.G64V|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	48	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.308571	152.037052	157.724127	54	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135288734	135288734	6116	23	G	T	T	T	572	44	FHL1	2	2
GPR112	139378	broad.mit.edu	37	X	135428176	135428176	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135428176G>T	uc004ezu.1	+	c.2311G>T	c.(2311-2313)GCA>TCA	p.A771S	GPR112_uc010nsb.1_Missense_Mutation_p.A566S|GPR112_uc010nsc.1_Missense_Mutation_p.A538S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	771	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.36036	227.368958	231.208062	80	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135428176	135428176	6903	23	G	T	T	T	598	46	GPR112	2	2
GPR112	139378	broad.mit.edu	37	X	135431852	135431852	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135431852C>A	uc004ezu.1	+	c.5987C>A	c.(5986-5988)ACT>AAT	p.T1996N	GPR112_uc010nsb.1_Missense_Mutation_p.T1791N|GPR112_uc010nsc.1_Missense_Mutation_p.T1763N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1996	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.339744	149.119793	152.665083	53	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135431852	135431852	6903	23	C	A	A	A	260	20	GPR112	2	2
GPR112	139378	broad.mit.edu	37	X	135482021	135482021	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135482021A>T	uc004ezu.1	+	c.8321A>T	c.(8320-8322)GAT>GTT	p.D2774V	GPR112_uc010nsb.1_Missense_Mutation_p.D2569V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2774	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.326923	44.355849	45.738197	17	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135482021	135482021	6903	23	A	T	T	T	156	12	GPR112	3	3
CD40LG	959	broad.mit.edu	37	X	135730550	135730550	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135730550G>A	uc004faa.2	+	c.143G>A	c.(142-144)AGA>AAA	p.R48K	CD40LG_uc010nsd.2_Missense_Mutation_p.R48K|CD40LG_uc010nse.1_5'Flank	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	48	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)					77				0.315789	138.74414	143.332484	48	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135730550	135730550	3144	23	G	A	A	A	429	33	CD40LG	2	2
GPR101	83550	broad.mit.edu	37	X	136112889	136112889	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:136112889G>T	uc011mwh.1	-	c.945C>A	c.(943-945)GAC>GAA	p.D315E		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	315	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)	4	Acute lymphoblastic leukemia(192;0.000127)													0.406639	310.1118	311.943801	98	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136112889	136112889	6896	23	G	T	T	T	516	40	GPR101	1	1
GPR101	83550	broad.mit.edu	37	X	136113762	136113762	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:136113762C>A	uc011mwh.1	-	c.72G>T	c.(70-72)ATG>ATT	p.M24I		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	24	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)	4	Acute lymphoblastic leukemia(192;0.000127)													0.442857	90.002729	90.203006	31	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136113762	136113762	6896	23	C	A	A	A	325	25	GPR101	2	2
ZIC3	7547	broad.mit.edu	37	X	136649480	136649480	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:136649480C>T	uc004fak.2	+	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	210					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)													0.315789	15.944715	16.51736	6	13	KEEP	---	---	---	---	capture		Silent	SNP	136649480	136649480	18271	23	C	T	T	T	246	19	ZIC3	1	1
OFD1	8481	broad.mit.edu	37	X	13775792	13775792	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:13775792G>T	uc004cvp.3	+	c.1425G>T	c.(1423-1425)CCG>CCT	p.P475P	OFD1_uc004cvr.3_Silent_p.P42P|OFD1_uc011mil.1_Silent_p.P42P|OFD1_uc004cvq.3_Silent_p.P335P|OFD1_uc010nen.2_Silent_p.P474P|OFD1_uc004cvs.3_Non-coding_Transcript|OFD1_uc004cvu.3_Silent_p.P434P|OFD1_uc004cvv.3_Silent_p.P434P	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	475	Potential.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0														0.530303	116.129447	116.182501	35	31	KEEP	---	---	---	---	capture		Silent	SNP	13775792	13775792	11243	23	G	T	T	T	496	39	OFD1	1	1
CXorf66	347487	broad.mit.edu	37	X	139038138	139038138	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:139038138C>A	uc004fbb.2	-	c.1003G>T	c.(1003-1005)GAG>TAG	p.E335*		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	335	Cytoplasmic (Potential).					integral to membrane					0														0.121622	10.831753	21.204361	9	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	139038138	139038138	4283	23	C	A	A	A	377	29	CXorf66	5	2
MAGEC1	9947	broad.mit.edu	37	X	140996309	140996309	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140996309C>A	uc004fbt.2	+	c.3119C>A	c.(3118-3120)CCC>CAC	p.P1040H	MAGEC1_uc010nsl.1_Missense_Mutation_p.P107H	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1040	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.481707	243.040513	243.086466	79	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140996309	140996309	9561	23	C	A	A	A	286	22	MAGEC1	2	2
MAGEC1	9947	broad.mit.edu	37	X	140996386	140996386	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140996386C>A	uc004fbt.2	+	c.3196C>A	c.(3196-3198)CGT>AGT	p.R1066S	MAGEC1_uc010nsl.1_Missense_Mutation_p.R133S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1066	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.246073	117.434204	128.645975	47	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140996386	140996386	9561	23	C	A	A	A	403	31	MAGEC1	1	1
SLITRK4	139065	broad.mit.edu	37	X	142716771	142716771	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142716771T>A	uc004fbx.2	-	c.2154A>T	c.(2152-2154)AAA>AAT	p.K718N	SLITRK4_uc004fby.2_Missense_Mutation_p.K718N	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	718	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.211268	35.385287	40.859318	15	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142716771	142716771	15243	23	T	A	A	A	725	56	SLITRK4	3	3
SLITRK4	139065	broad.mit.edu	37	X	142718751	142718751	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142718751C>A	uc004fbx.2	-	c.174G>T	c.(172-174)TGG>TGT	p.W58C	SLITRK4_uc004fby.2_Missense_Mutation_p.W58C	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	58	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.389831	71.208898	71.837039	23	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142718751	142718751	15243	23	C	A	A	A	234	18	SLITRK4	2	2
SPANXN1	494118	broad.mit.edu	37	X	144337245	144337245	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144337245A>C	uc004fcb.2	+	c.130A>C	c.(130-132)AAA>CAA	p.K44Q		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein	44											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.220551	236.601214	265.278732	88	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144337245	144337245	15498	23	A	C	C	C	117	9	SPANXN1	4	4
SLITRK2	84631	broad.mit.edu	37	X	144904349	144904349	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904349C>A	uc004fcd.2	+	c.406C>A	c.(406-408)CTG>ATG	p.L136M	SLITRK2_uc010nsp.2_Missense_Mutation_p.L136M|SLITRK2_uc010nso.2_Missense_Mutation_p.L136M|SLITRK2_uc011mwq.1_Missense_Mutation_p.L136M|SLITRK2_uc011mwr.1_Missense_Mutation_p.L136M|SLITRK2_uc011mws.1_Missense_Mutation_p.L136M|SLITRK2_uc004fcg.2_Missense_Mutation_p.L136M|SLITRK2_uc011mwt.1_Missense_Mutation_p.L136M	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	136	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.161616	29.235043	40.020645	16	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144904349	144904349	15241	23	C	A	A	A	311	24	SLITRK2	2	2
SLITRK2	84631	broad.mit.edu	37	X	144905649	144905649	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144905649T>A	uc004fcd.2	+	c.1706T>A	c.(1705-1707)CTA>CAA	p.L569Q	SLITRK2_uc010nsp.2_Missense_Mutation_p.L569Q|SLITRK2_uc010nso.2_Missense_Mutation_p.L569Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.L569Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.L569Q|SLITRK2_uc011mws.1_Missense_Mutation_p.L569Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.L569Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.L569Q	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	569	Extracellular (Potential).|LRRCT 2.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.085714	2.595824	14.77312	6	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144905649	144905649	15241	23	T	A	A	A	689	53	SLITRK2	3	3
GLRA2	2742	broad.mit.edu	37	X	14550390	14550390	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14550390G>T	uc010nep.2	+	c.98G>T	c.(97-99)AGG>ATG	p.R33M	GLRA2_uc010neq.2_Missense_Mutation_p.R33M|GLRA2_uc004cwe.3_Missense_Mutation_p.R33M|GLRA2_uc011mio.1_De_novo_Start_OutOfFrame|GLRA2_uc011mip.1_Missense_Mutation_p.R11M	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	33	Extracellular (Probable).				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)									0.444444	84.390699	84.56029	28	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14550390	14550390	6723	23	G	T	T	T	455	35	GLRA2	2	2
GLRA2	2742	broad.mit.edu	37	X	14599492	14599492	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14599492G>T	uc010nep.2	+	c.458G>T	c.(457-459)CGG>CTG	p.R153L	GLRA2_uc010neq.2_Missense_Mutation_p.R153L|GLRA2_uc004cwe.3_Missense_Mutation_p.R153L|GLRA2_uc011mio.1_Missense_Mutation_p.R64L|GLRA2_uc011mip.1_Missense_Mutation_p.R131L	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	153	Extracellular (Probable).				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)									0.404255	114.021491	114.777034	38	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14599492	14599492	6723	23	G	T	T	T	507	39	GLRA2	1	1
AFF2	2334	broad.mit.edu	37	X	147967464	147967464	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:147967464T>A	uc004fcp.2	+	c.1308T>A	c.(1306-1308)CTT>CTA	p.L436L	AFF2_uc004fco.2_Silent_p.L397L|AFF2_uc004fcq.2_Silent_p.L426L|AFF2_uc004fcr.2_Silent_p.L397L|AFF2_uc011mxb.1_Silent_p.L401L|AFF2_uc004fcs.2_Silent_p.L403L|AFF2_uc011mxc.1_Silent_p.L77L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	436					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.571429	763.961263	765.805353	236	177	KEEP	---	---	---	---	capture		Silent	SNP	147967464	147967464	358	23	T	A	A	A	808	63	AFF2	3	3
MTM1	4534	broad.mit.edu	37	X	149807451	149807451	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149807451C>T	uc004fef.3	+	c.480C>T	c.(478-480)AAC>AAT	p.N160N	MTM1_uc011mxx.1_Non-coding_Transcript|MTM1_uc011mxy.1_Silent_p.N123N|MTM1_uc011mxz.1_Silent_p.N45N|MTM1_uc010nte.2_Silent_p.N28N	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	160					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			ovary(1)|kidney(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.485095	551.006305	551.077515	179	190	KEEP	---	---	---	---	capture		Silent	SNP	149807451	149807451	10330	23	C	T	T	T	246	19	MTM1	1	1
MTMR1	8776	broad.mit.edu	37	X	149899000	149899000	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149899000C>A	uc004feh.1	+	c.661C>A	c.(661-663)CTA>ATA	p.L221I	MTMR1_uc011mya.1_Missense_Mutation_p.L119I|MTMR1_uc004feg.1_Missense_Mutation_p.L213I|MTMR1_uc004fei.2_Missense_Mutation_p.L213I|MTMR1_uc004fej.2_Non-coding_Transcript|MTMR1_uc010ntf.2_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	213						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.416667	95.038115	95.474525	30	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149899000	149899000	10331	23	C	A	A	A	259	20	MTMR1	2	2
MTMR1	8776	broad.mit.edu	37	X	149899011	149899011	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149899011C>G	uc004feh.1	+	c.672C>G	c.(670-672)TTC>TTG	p.F224L	MTMR1_uc011mya.1_Missense_Mutation_p.F122L|MTMR1_uc004feg.1_Missense_Mutation_p.F216L|MTMR1_uc004fei.2_Missense_Mutation_p.F216L|MTMR1_uc004fej.2_Non-coding_Transcript|MTMR1_uc010ntf.2_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	216						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.185714	30.43112	36.91438	13	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149899011	149899011	10331	23	C	G	G	G	376	29	MTMR1	3	3
MTMR1	8776	broad.mit.edu	37	X	149899014	149899014	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149899014C>A	uc004feh.1	+	c.675C>A	c.(673-675)AGC>AGA	p.S225R	MTMR1_uc011mya.1_Missense_Mutation_p.S123R|MTMR1_uc004feg.1_Missense_Mutation_p.S217R|MTMR1_uc004fei.2_Missense_Mutation_p.S217R|MTMR1_uc004fej.2_Non-coding_Transcript|MTMR1_uc010ntf.2_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	217						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.458333	100.066176	100.175113	33	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149899014	149899014	10331	23	C	A	A	A	363	28	MTMR1	2	2
CNGA2	1260	broad.mit.edu	37	X	150912748	150912748	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150912748C>A	uc004fey.1	+	c.1773C>A	c.(1771-1773)ACC>ACA	p.T591T		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	591	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.110215	40.918742	96.840168	41	331	KEEP	---	---	---	---	capture		Silent	SNP	150912748	150912748	3735	23	C	A	A	A	262	21	CNGA2	2	2
GABRA3	2556	broad.mit.edu	37	X	151453203	151453203	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151453203T>A	uc010ntk.1	-	c.267A>T	c.(265-267)GCA>GCT	p.A89A		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	89	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	NSCLC(142;2578 2613 10251 16743)								0.084967	2.948439	29.713449	13	140	KEEP	---	---	---	---	capture		Silent	SNP	151453203	151453203	6413	23	T	A	A	A	704	55	GABRA3	3	3
NSDHL	50814	broad.mit.edu	37	X	152014961	152014961	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152014961G>T	uc004fgt.1	+	c.93G>T	c.(91-93)AAG>AAT	p.K31N	NSDHL_uc004fgs.1_Missense_Mutation_p.K31N	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	31					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)									0.528455	206.179396	206.265959	65	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152014961	152014961	11075	23	G	T	T	T	451	35	NSDHL	2	2
BGN	633	broad.mit.edu	37	X	152770098	152770098	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152770098C>A	uc004fhr.1	+	c.9C>A	c.(7-9)CCC>CCA	p.P3P	BGN_uc004fhq.1_Non-coding_Transcript	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	3						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.384615	14.372431	14.523972	5	8	KEEP	---	---	---	---	capture		Silent	SNP	152770098	152770098	1442	23	C	A	A	A	275	22	BGN	2	2
BGN	633	broad.mit.edu	37	X	152770100	152770100	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152770100T>A	uc004fhr.1	+	c.11T>A	c.(10-12)CTG>CAG	p.L4Q	BGN_uc004fhq.1_Non-coding_Transcript	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	4						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.272727	7.720262	8.232346	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152770100	152770100	1442	23	T	A	A	A	715	55	BGN	3	3
BGN	633	broad.mit.edu	37	X	152770102	152770102	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152770102T>G	uc004fhr.1	+	c.13T>G	c.(13-15)TGG>GGG	p.W5G	BGN_uc004fhq.1_Non-coding_Transcript	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	5						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.333333	10.094551	10.390484	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152770102	152770102	1442	23	T	G	G	G	767	59	BGN	4	4
ATP2B3	492	broad.mit.edu	37	X	152825354	152825354	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152825354C>G	uc004fht.1	+	c.2793C>G	c.(2791-2793)GGC>GGG	p.G931G	ATP2B3_uc004fhs.1_Silent_p.G931G|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	931	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.541667	84.413362	84.496753	26	22	KEEP	---	---	---	---	capture		Silent	SNP	152825354	152825354	1160	23	C	G	G	G	327	26	ATP2B3	3	3
SLC6A8	6535	broad.mit.edu	37	X	152959807	152959807	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152959807G>T	uc004fib.3	+	c.1401G>T	c.(1399-1401)ATG>ATT	p.M467I	SLC6A8_uc004fic.3_Missense_Mutation_p.M457I|SLC6A8_uc011myx.1_Missense_Mutation_p.M352I|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	467	Extracellular (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)					206				0.222222	25.127166	28.320474	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152959807	152959807	15187	23	G	T	T	T	624	48	SLC6A8	2	2
SRPK3	26576	broad.mit.edu	37	X	153047620	153047620	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153047620C>A	uc004fik.2	+	c.630C>A	c.(628-630)GTC>GTA	p.V210V	SRPK3_uc010nul.2_Silent_p.V102V|SRPK3_uc004fin.2_Silent_p.V144V|SRPK3_uc004fil.2_Silent_p.V144V|SRPK3_uc004fim.2_Silent_p.V144V	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	144	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development|protein phosphorylation		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					Esophageal Squamous(167;766 3400 32156)				307				0.461538	17.548026	17.56484	6	7	KEEP	---	---	---	---	capture		Silent	SNP	153047620	153047620	15675	23	C	A	A	A	379	30	SRPK3	2	2
OPN1LW	5956	broad.mit.edu	37	X	153421872	153421872	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153421872C>A	uc004fjz.3	+	c.848C>A	c.(847-849)CCC>CAC	p.P283H		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	283	Helical; Name=6; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.203846	222.952917	265.242227	106	414	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153421872	153421872	11283	23	C	A	A	A	286	22	OPN1LW	2	2
OPN1LW	5956	broad.mit.edu	37	X	153421947	153421947	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153421947C>A	uc004fjz.3	+	c.923C>A	c.(922-924)GCC>GAC	p.A308D		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	308	Helical; Name=7; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.16338	89.587379	127.718105	58	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153421947	153421947	11283	23	C	A	A	A	338	26	OPN1LW	2	2
ATP6AP1	537	broad.mit.edu	37	X	153664221	153664221	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153664221T>C	uc004flf.1	+	c.1397T>C	c.(1396-1398)TTG>TCG	p.L466S	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.L426S|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	466					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.190476	40.907289	52.229486	24	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153664221	153664221	1184	23	T	C	C	C	819	63	ATP6AP1	4	4
GDI1	2664	broad.mit.edu	37	X	153668786	153668786	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153668786C>A	uc004fli.3	+	c.652C>A	c.(652-654)CGG>AGG	p.R218R	GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	218					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.4	41.940524	42.247109	14	21	KEEP	---	---	---	---	capture		Silent	SNP	153668786	153668786	6588	23	C	A	A	A	295	23	GDI1	1	1
F8	2157	broad.mit.edu	37	X	154157976	154157976	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154157976C>T	uc004fmt.2	-	c.4089G>A	c.(4087-4089)ATG>ATA	p.M1363I		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1363	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.156593	101.166648	142.115729	57	307	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154157976	154157976	5544	23	C	T	T	T	377	29	F8	2	2
SPRY3	10251	broad.mit.edu	37	X	155004223	155004223	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:155004223C>T	uc004fnq.1	+	c.690C>T	c.(688-690)CTC>CTT	p.L230L	SPRY3_uc010nvl.1_Silent_p.L131L	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	230	SPR.|Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.238636	105.892329	116.851191	42	134	KEEP	---	---	---	---	capture		Silent	SNP	155004223	155004223	15621	23	C	T	T	T	405	32	SPRY3	2	2
BEND2	139105	broad.mit.edu	37	X	18192296	18192296	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18192296C>A	uc004cyj.3	-	c.1835G>T	c.(1834-1836)GGT>GTT	p.G612V	BEND2_uc010nfb.2_Missense_Mutation_p.G521V	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	612										ovary(3)|kidney(1)|central_nervous_system(1)	5														0.288462	82.40547	86.579267	30	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18192296	18192296	1421	23	C	A	A	A	234	18	BEND2	2	2
PHKA2	5256	broad.mit.edu	37	X	18912363	18912363	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18912363G>T	uc004cyv.3	-	c.3496C>A	c.(3496-3498)CAG>AAG	p.Q1166K	PHKA2_uc004cyu.3_Missense_Mutation_p.Q472K|PHKA2_uc010nfe.1_Missense_Mutation_p.Q198K|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1166					glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.555556	30.350506	30.398776	10	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18912363	18912363	12268	23	G	T	T	T	611	47	PHKA2	2	2
PDHA1	5160	broad.mit.edu	37	X	19372640	19372640	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:19372640G>T	uc004czh.3	+	c.647G>T	c.(646-648)TGT>TTT	p.C216F	PDHA1_uc004czg.3_Missense_Mutation_p.C181F|PDHA1_uc011mjc.1_Missense_Mutation_p.C185F|PDHA1_uc011mjd.1_Intron|PDHA1_uc010nfk.2_Missense_Mutation_p.C178F|PDHA1_uc010nfl.2_5'Flank	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	181					glycolysis|oxidation-reduction process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)									0.397059	81.609554	82.240434	27	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19372640	19372640	12085	23	G	T	T	T	624	48	PDHA1	2	2
KLHL34	257240	broad.mit.edu	37	X	21674276	21674276	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21674276T>C	uc004czz.1	-	c.1631A>G	c.(1630-1632)TAC>TGC	p.Y544C		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	544	Kelch 5.									ovary(1)	1														0.3	9.137379	9.485504	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21674276	21674276	8701	23	T	C	C	C	741	57	KLHL34	4	4
PTCHD1	139411	broad.mit.edu	37	X	23353297	23353297	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23353297A>T	uc004dal.3	+	c.305A>T	c.(304-306)CAG>CTG	p.Q102L	PTCHD1_uc010nfu.1_Missense_Mutation_p.Q102L	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	102					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)	5														0.347826	23.892898	24.363085	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23353297	23353297	13186	23	A	T	T	T	91	7	PTCHD1	3	3
DCAF8L1	139425	broad.mit.edu	37	X	27998021	27998021	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27998021C>A	uc004dbx.1	-	c.1431G>T	c.(1429-1431)GAG>GAT	p.E477D		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	477										ovary(3)	3														0.426471	86.566443	86.886398	29	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27998021	27998021	4448	23	C	A	A	A	311	24	DCAF8L1	2	2
DCAF8L1	139425	broad.mit.edu	37	X	27998545	27998546	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27998545_27998546GG>TT	uc004dbx.1	-	c.906_907CC>AA	c.(904-909)TTCCTC>TTAATC	p.302_303FL>LI		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	302_303	WD 3.									ovary(3)	3														0.422535	92.64023	93.011312	30	41	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	27998545	27998546	4448	23	GG	TT	TT	TT	455	35	DCAF8L1	2	2
MAGEB3	4114	broad.mit.edu	37	X	30254065	30254065	+	Silent	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30254065G>C	uc004dca.1	+	c.24G>C	c.(22-24)ACG>ACC	p.T8T		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	8											0														0.093023	1.467402	8.63444	4	39	KEEP	---	---	---	---	capture		Silent	SNP	30254065	30254065	9558	23	G	C	C	C	483	38	MAGEB3	3	3
NR0B1	190	broad.mit.edu	37	X	30326950	30326950	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30326950G>T	uc004dcf.3	-	c.531C>A	c.(529-531)TTC>TTA	p.F177L		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	177	4 X 67 AA tandem repeats.|3.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|basal transcription repressor activity|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)							OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.65	43.082793	43.482072	13	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30326950	30326950	11018	23	G	T	T	T	477	37	NR0B1	1	1
DMD	1756	broad.mit.edu	37	X	31496456	31496456	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31496456G>T	uc004dda.1	-	c.8704C>A	c.(8704-8706)CGG>AGG	p.R2902R	DMD_uc004dcq.1_Silent_p.R173R|DMD_uc004dcr.1_Silent_p.R442R|DMD_uc004dcs.1_Silent_p.R442R|DMD_uc004dct.1_Silent_p.R442R|DMD_uc004dcu.1_Silent_p.R442R|DMD_uc004dcv.1_Silent_p.R442R|DMD_uc004dcw.2_Silent_p.R1558R|DMD_uc004dcx.2_Silent_p.R1561R|DMD_uc004dcz.2_Silent_p.R2779R|DMD_uc004dcy.1_Silent_p.R2898R|DMD_uc004ddb.1_Silent_p.R2894R	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2902	Spectrin 20.				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)												0.327586	53.989967	55.527102	19	39	KEEP	---	---	---	---	capture		Silent	SNP	31496456	31496456	4760	23	G	T	T	T	480	37	DMD	1	1
DMD	1756	broad.mit.edu	37	X	32486717	32486717	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32486717T>A	uc004dda.1	-	c.3060A>T	c.(3058-3060)TCA>TCT	p.S1020S	DMD_uc004dcz.2_Silent_p.S897S|DMD_uc004dcy.1_Silent_p.S1016S|DMD_uc004ddb.1_Silent_p.S1012S|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1020	Spectrin 6.				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)												0.272727	23.75978	25.296601	9	24	KEEP	---	---	---	---	capture		Silent	SNP	32486717	32486717	4760	23	T	A	A	A	704	55	DMD	3	3
FAM47B	170062	broad.mit.edu	37	X	34961919	34961919	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34961919C>A	uc004ddi.1	+	c.971C>A	c.(970-972)CCC>CAC	p.P324H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	324	Pro-rich.									ovary(3)|breast(1)	4														0.508475	91.747534	91.751155	30	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34961919	34961919	5791	23	C	A	A	A	286	22	FAM47B	2	2
CXorf22	170063	broad.mit.edu	37	X	35990041	35990041	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:35990041G>T	uc004ddj.2	+	c.2213G>T	c.(2212-2214)AGC>ATC	p.S738I	CXorf22_uc010ngv.2_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	738										large_intestine(1)|lung(1)|ovary(1)	3														0.25	7.319029	8.000962	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35990041	35990041	4262	23	G	T	T	T	442	34	CXorf22	2	2
FAM47C	442444	broad.mit.edu	37	X	37027040	37027040	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37027040T>A	uc004ddl.1	+	c.557T>A	c.(556-558)TTC>TAC	p.F186Y		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	186										ovary(3)	3														0.28	17.014114	18.102388	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37027040	37027040	5792	23	T	A	A	A	806	62	FAM47C	3	3
CYBB	1536	broad.mit.edu	37	X	37663180	37663180	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37663180G>T	uc004ddr.2	+	c.948G>T	c.(946-948)GGG>GGT	p.G316G	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Silent_p.G284G|CYBB_uc011mkg.1_Silent_p.G49G	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	316	Cytoplasmic (Potential).|FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2														0.380952	65.458241	66.249865	24	39	KEEP	---	---	---	---	capture		Silent	SNP	37663180	37663180	4298	23	G	T	T	T	561	44	CYBB	2	2
USP9X	8239	broad.mit.edu	37	X	41057842	41057842	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41057842G>T	uc004dfb.2	+	c.4442G>T	c.(4441-4443)GGA>GTA	p.G1481V	USP9X_uc004dfc.2_Missense_Mutation_p.G1481V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1481					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.387097	34.593253	34.939382	12	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41057842	41057842	17654	23	G	T	T	T	533	41	USP9X	2	2
CASK	8573	broad.mit.edu	37	X	41448845	41448845	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41448845G>T	uc004dfl.3	-	c.1156C>A	c.(1156-1158)CTG>ATG	p.L386M	CASK_uc004dfj.3_De_novo_Start_InFrame|CASK_uc004dfk.3_Missense_Mutation_p.L201M|CASK_uc004dfm.3_Missense_Mutation_p.L386M|CASK_uc004dfn.3_Missense_Mutation_p.L380M	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	386	L27 1.				cell adhesion|protein phosphorylation	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						NSCLC(42;104 1086 3090 27189 35040)				254				0.428571	16.344622	16.40746	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41448845	41448845	2784	23	G	T	T	T	438	34	CASK	2	2
SLC38A5	92745	broad.mit.edu	37	X	48319074	48319074	+	Silent	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48319074C>G	uc010nid.2	-	c.1029G>C	c.(1027-1029)CTG>CTC	p.L343L	SLC38A5_uc004djk.3_Silent_p.L292L	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	343	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3														0.522727	74.435989	74.457143	23	21	KEEP	---	---	---	---	capture		Silent	SNP	48319074	48319074	15104	23	C	G	G	G	314	25	SLC38A5	3	3
AKAP4	8852	broad.mit.edu	37	X	49958251	49958251	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49958251C>A	uc004dow.1	-	c.1113G>T	c.(1111-1113)TTG>TTT	p.L371F	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.L193F|AKAP4_uc004dou.1_Missense_Mutation_p.L362F	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	371					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)	7	Ovarian(276;0.236)									119				0.425532	59.290892	59.518585	20	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49958251	49958251	456	23	C	A	A	A	324	25	AKAP4	2	2
CCNB3	85417	broad.mit.edu	37	X	50052405	50052405	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50052405G>T	uc004dox.3	+	c.1236G>T	c.(1234-1236)TCG>TCT	p.S412S	CCNB3_uc004doy.2_Silent_p.S412S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	412					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.347826	70.630873	71.971911	24	45	KEEP	---	---	---	---	capture		Silent	SNP	50052405	50052405	3041	23	G	T	T	T	483	38	CCNB3	1	1
CCNB3	85417	broad.mit.edu	37	X	50090716	50090716	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50090716C>A	uc004dox.3	+	c.3902C>A	c.(3901-3903)TCC>TAC	p.S1301Y	CCNB3_uc004doy.2_Missense_Mutation_p.S1301Y|CCNB3_uc004doz.2_Missense_Mutation_p.S197Y|CCNB3_uc010njq.2_Missense_Mutation_p.S193Y|CCNB3_uc004dpa.2_Missense_Mutation_p.S140Y	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1301					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.536585	64.588992	64.642917	22	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50090716	50090716	3041	23	C	A	A	A	390	30	CCNB3	2	2
BMP15	9210	broad.mit.edu	37	X	50659413	50659413	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50659413C>T	uc011mnw.1	+	c.985C>T	c.(985-987)CGC>TGC	p.R329C		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	329					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)													0.421769	186.616715	187.402782	62	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50659413	50659413	1483	23	C	T	T	T	247	19	BMP15	1	1
SMC1A	8243	broad.mit.edu	37	X	53423251	53423251	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53423251C>G	uc004dsg.2	-	c.2758G>C	c.(2758-2760)GAA>CAA	p.E920Q	SMC1A_uc011moe.1_Missense_Mutation_p.E898Q	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	920	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)	5														0.19084	58.797941	70.502224	25	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53423251	53423251	15279	23	C	G	G	G	377	29	SMC1A	3	3
RIBC1	158787	broad.mit.edu	37	X	53456805	53456805	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53456805C>A	uc004dsk.2	+	c.548C>A	c.(547-549)GCG>GAG	p.A183E	RIBC1_uc011mog.1_Missense_Mutation_p.A68E	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	183											0														0.084211	1.752885	18.404269	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53456805	53456805	13827	23	C	A	A	A	351	27	RIBC1	1	1
HUWE1	10075	broad.mit.edu	37	X	53563456	53563456	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53563456G>C	uc004dsp.2	-	c.12310C>G	c.(12310-12312)CTC>GTC	p.L4104V	HUWE1_uc004dsn.2_Missense_Mutation_p.L2912V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4104	HECT.				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														0.377049	123.995314	125.622111	46	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53563456	53563456	7761	23	G	C	C	C	455	35	HUWE1	3	3
PHF8	23133	broad.mit.edu	37	X	54029093	54029093	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54029093C>A	uc004dsu.2	-	c.1077G>T	c.(1075-1077)ACG>ACT	p.T359T	PHF8_uc004dst.2_Silent_p.T323T|PHF8_uc004dsv.2_Silent_p.T189T|PHF8_uc004dsw.2_Silent_p.T323T|PHF8_uc004dsx.2_Silent_p.T87T|PHF8_uc004dsy.2_Silent_p.T323T	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	359	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|oxidation-reduction process|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3														0.527778	64.628792	64.653168	19	17	KEEP	---	---	---	---	capture		Silent	SNP	54029093	54029093	12263	23	C	A	A	A	340	27	PHF8	1	1
ITIH5L	347365	broad.mit.edu	37	X	54781460	54781460	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54781460C>T	uc004dtj.2	-	c.3192G>A	c.(3190-3192)GGG>GGA	p.G1064G		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1064					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5										249				0.070175	-2.10019	8.725648	4	53	KEEP	---	---	---	---	capture		Silent	SNP	54781460	54781460	8212	23	C	T	T	T	223	18	ITIH5L	2	2
PAGE2B	389860	broad.mit.edu	37	X	55103864	55103864	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:55103864G>T	uc004due.2	+	c.226G>T	c.(226-228)GCT>TCT	p.A76S		NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	76											0														0.239316	66.577262	73.812719	28	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55103864	55103864	11807	23	G	T	T	T	546	42	PAGE2B	2	2
NLGN4X	57502	broad.mit.edu	37	X	5821139	5821139	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5821139C>A	uc010ndi.2	-	c.1691G>T	c.(1690-1692)TGG>TTG	p.W564L	NLGN4X_uc004crp.2_Missense_Mutation_p.W547L|NLGN4X_uc010ndh.2_Missense_Mutation_p.W527L|NLGN4X_uc004crq.2_Missense_Mutation_p.W527L|NLGN4X_uc004crr.2_Missense_Mutation_p.W527L|NLGN4X_uc010ndj.2_Missense_Mutation_p.W527L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	527	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.477612	97.992558	98.021934	32	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5821139	5821139	10867	23	C	A	A	A	273	21	NLGN4X	2	2
FAM123B	139285	broad.mit.edu	37	X	63411366	63411366	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63411366G>C	uc004dvo.2	-	c.1801C>G	c.(1801-1803)CGA>GGA	p.R601G		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	601					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.151515	10.859159	14.691743	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63411366	63411366	5620	23	G	C	C	C	480	37	FAM123B	3	3
MTMR8	55613	broad.mit.edu	37	X	63445199	63445199	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63445199A>G	uc011mou.1	-	c.1457T>C	c.(1456-1458)TTC>TCC	p.F486S	ASB12_uc004dvp.1_Missense_Mutation_p.F102S|ASB12_uc004dvq.1_Missense_Mutation_p.F111S|ASB12_uc004dvr.1_Missense_Mutation_p.F111S	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4														0.378788	77.438994	78.296113	25	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63445199	63445199	10342	23	A	G	G	G	117	9	MTMR8	4	4
HEPH	9843	broad.mit.edu	37	X	65393450	65393450	+	Silent	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65393450C>T	uc011moz.1	+	c.441C>T	c.(439-441)GGC>GGT	p.G147G	HEPH_uc004dwn.2_Silent_p.G147G|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Silent_p.G147G|HEPH_uc011mpa.1_Silent_p.G147G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	144	Extracellular (Potential).|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.190476	8.287351	10.168546	4	17	KEEP	---	---	---	---	capture		Silent	SNP	65393450	65393450	7337	23	C	T	T	T	353	28	HEPH	2	2
HEPH	9843	broad.mit.edu	37	X	65420572	65420572	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65420572C>A	uc011moz.1	+	c.2064C>A	c.(2062-2064)GCC>GCA	p.A688A	HEPH_uc004dwn.2_Silent_p.A688A|HEPH_uc004dwo.2_Silent_p.A418A|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Silent_p.A688A|HEPH_uc010nks.2_5'Flank	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	685	Plastocyanin-like 4.|Extracellular (Potential).				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.103448	2.802394	7.343745	3	26	KEEP	---	---	---	---	capture		Silent	SNP	65420572	65420572	7337	23	C	A	A	A	262	21	HEPH	2	2
AR	367	broad.mit.edu	37	X	66765999	66765999	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:66765999G>A	uc004dwu.1	+	c.1011G>A	c.(1009-1011)GGG>GGA	p.G337G	AR_uc011mpd.1_Silent_p.G337G|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.G337G	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	335	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|promoter binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)					177				0.184211	15.048472	18.56816	7	31	KEEP	---	---	---	---	capture		Silent	SNP	66765999	66765999	847	23	G	A	A	A	522	41	AR	2	2
IGBP1	3476	broad.mit.edu	37	X	69353825	69353825	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69353825C>G	uc004dxv.2	+	c.28C>G	c.(28-30)CCG>GCG	p.P10A	IGBP1_uc004dxw.2_Missense_Mutation_p.P10A	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	10					B cell activation|negative regulation of caspase activity|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						NSCLC(167;1189 1558 6576 8216 30387 37980 41450)						OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.333333	10.495258	10.790837	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69353825	69353825	7868	23	C	G	G	G	338	26	IGBP1	3	3
AWAT1	158833	broad.mit.edu	37	X	69460072	69460072	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69460072C>A	uc004dxy.2	+	c.919C>A	c.(919-921)CAC>AAC	p.H307N		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	wax synthase 1	307					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			ovary(3)	3														0.429577	174.64271	175.257167	61	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69460072	69460072	1255	23	C	A	A	A	325	25	AWAT1	2	2
P2RY4	5030	broad.mit.edu	37	X	69478986	69478986	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69478986T>A	uc004dxz.1	-	c.489A>T	c.(487-489)GTA>GTT	p.V163V		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	163	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0														0.372549	55.914734	56.641308	19	32	KEEP	---	---	---	---	capture		Silent	SNP	69478986	69478986	11766	23	T	A	A	A	678	53	P2RY4	3	3
IL2RG	3561	broad.mit.edu	37	X	70327594	70327594	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70327594C>T	uc004dyw.1	-	c.1102G>A	c.(1102-1104)GAA>AAA	p.E368K	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.E97K|IL2RG_uc004dyx.1_Missense_Mutation_p.E178K	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	368	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)									0.076923	-0.240768	9.286738	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70327594	70327594	7989	23	C	T	T	T	377	29	IL2RG	2	2
MED12	9968	broad.mit.edu	37	X	70347242	70347242	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70347242G>C	uc004dyy.2	+	c.2906G>C	c.(2905-2907)CGC>CCC	p.R969P	MED12_uc011mpq.1_Missense_Mutation_p.R969P|MED12_uc004dyz.2_Missense_Mutation_p.R969P|MED12_uc004dza.2_Missense_Mutation_p.R816P|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	969					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)													0.104478	7.490669	17.902364	7	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70347242	70347242	9817	23	G	C	C	C	494	38	MED12	3	3
ITGB1BP2	26548	broad.mit.edu	37	X	70521702	70521702	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70521702C>A	uc004dzr.1	+	c.46C>A	c.(46-48)CCT>ACT	p.P16T	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_5'UTR	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	16	Cys-rich.|CHORD 1.				muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)													0.384615	58.493526	59.098288	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70521702	70521702	8196	23	C	A	A	A	286	22	ITGB1BP2	2	2
TAF1	6872	broad.mit.edu	37	X	70596935	70596935	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70596935C>T	uc004dzt.3	+	c.668C>T	c.(667-669)TCT>TTT	p.S223F	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzu.3_Missense_Mutation_p.S202F	NM_004606	NP_004597	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 1	202	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|response to DNA damage stimulus|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	15	Renal(35;0.156)	all_lung(315;0.000321)								472				0.413462	134.204415	134.885062	43	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70596935	70596935	16034	23	C	T	T	T	416	32	TAF1	2	2
ACRC	93953	broad.mit.edu	37	X	70832327	70832327	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70832327C>A	uc004eae.2	+	c.1873C>A	c.(1873-1875)CCG>ACG	p.P625T	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	625						nucleus				ovary(3)	3	Renal(35;0.156)													0.5	35.295913	35.295913	12	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70832327	70832327	172	23	C	A	A	A	286	22	ACRC	2	2
NHSL2	340527	broad.mit.edu	37	X	71359504	71359504	+	Silent	SNP	G	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71359504G>A	uc011mqa.1	+	c.2106G>A	c.(2104-2106)CCG>CCA	p.P702P	NHSL2_uc004eak.1_Silent_p.P336P|NHSL2_uc010nli.2_Silent_p.P471P	NM_001013627	NP_001013649			NHS-like 2												0	Renal(35;0.156)													0.117647	8.179288	15.451528	6	45	KEEP	---	---	---	---	capture		Silent	SNP	71359504	71359504	10813	23	G	A	A	A	496	39	NHSL2	1	1
ERCC6L	54821	broad.mit.edu	37	X	71426904	71426904	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71426904G>T	uc004eaq.1	-	c.1713C>A	c.(1711-1713)TAC>TAA	p.Y571*	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Nonsense_Mutation_p.Y448*	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	571	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)													0.118812	15.131639	29.540543	12	89	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71426904	71426904	5411	23	G	T	T	T	568	44	ERCC6L	5	2
CDX4	1046	broad.mit.edu	37	X	72667280	72667280	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:72667280C>A	uc011mqk.1	+	c.191C>A	c.(190-192)CCT>CAT	p.P64H		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Renal(35;0.156)													0.157895	11.324593	15.566056	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72667280	72667280	3313	23	C	A	A	A	312	24	CDX4	2	2
KIAA2022	340533	broad.mit.edu	37	X	73964218	73964218	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73964218C>A	uc004eby.2	-	c.174G>T	c.(172-174)CTG>CTT	p.L58L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	58					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.514286	55.149994	55.156197	18	17	KEEP	---	---	---	---	capture		Silent	SNP	73964218	73964218	8580	23	C	A	A	A	366	29	KIAA2022	2	2
ZDHHC15	158866	broad.mit.edu	37	X	74670725	74670725	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:74670725A>T	uc004ecg.2	-	c.291T>A	c.(289-291)TAT>TAA	p.Y97*	ZDHHC15_uc004ech.2_Nonsense_Mutation_p.Y88*|ZDHHC15_uc011mqo.1_Non-coding_Transcript|ZDHHC15_uc004eci.2_Nonsense_Mutation_p.Y88*	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	97						integral to membrane	zinc ion binding			ovary(2)	2														0.419355	80.538067	80.890153	26	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	74670725	74670725	18193	23	A	T	T	T	102	8	ZDHHC15	5	3
ATRX	546	broad.mit.edu	37	X	76889171	76889171	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:76889171C>A	uc004ecp.3	-	c.4839G>T	c.(4837-4839)TTG>TTT	p.L1613F	ATRX_uc004ecq.3_Missense_Mutation_p.L1575F|ATRX_uc004eco.3_Missense_Mutation_p.L1398F	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1613	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)					2				0.393939	37.266029	37.591488	13	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76889171	76889171	1227	23	C	A	A	A	220	17	ATRX	2	2
ATP7A	538	broad.mit.edu	37	X	77296122	77296122	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77296122C>A	uc004ecx.3	+	c.3692C>A	c.(3691-3693)ACA>AAA	p.T1231K		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1231	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0														0.310345	74.311737	77.089009	27	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77296122	77296122	1209	23	C	A	A	A	221	17	ATP7A	2	2
TAF9B	51616	broad.mit.edu	37	X	77394407	77394407	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77394407G>C	uc004eda.2	-	c.66C>G	c.(64-66)ATC>ATG	p.I22M		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	22					negative regulation of apoptosis|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription corepressor activity				0														0.441176	101.188563	101.384029	30	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77394407	77394407	16057	23	G	C	C	C	525	41	TAF9B	3	3
ZCCHC5	203430	broad.mit.edu	37	X	77913599	77913599	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77913599C>A	uc004edc.1	-	c.319G>T	c.(319-321)GAG>TAG	p.E107*		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	107	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(1)	1														0.307692	9.593977	10.023296	4	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77913599	77913599	18179	23	C	A	A	A	390	30	ZCCHC5	5	2
BRWD3	254065	broad.mit.edu	37	X	80001181	80001181	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:80001181G>T	uc004edt.2	-	c.478C>A	c.(478-480)CAT>AAT	p.H160N	BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_5'UTR|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	160										ovary(4)	4														0.097561	2.28288	8.920517	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80001181	80001181	1557	23	G	T	T	T	585	45	BRWD3	2	2
POU3F4	5456	broad.mit.edu	37	X	82763695	82763695	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:82763695C>A	uc004eeg.2	+	c.363C>A	c.(361-363)AAC>AAA	p.N121K		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	121					regulation of transcription, DNA-dependent|sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.107143	3.469895	7.700239	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82763695	82763695	12707	23	C	A	A	A	233	18	POU3F4	2	2
ZNF711	7552	broad.mit.edu	37	X	84525120	84525120	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84525120G>C	uc004eeq.2	+	c.1214G>C	c.(1213-1215)AGG>ACG	p.R405T	ZNF711_uc004eeo.2_Missense_Mutation_p.R359T|ZNF711_uc004eep.2_Missense_Mutation_p.R359T|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	359					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.264151	29.612411	32.289537	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84525120	84525120	18712	23	G	C	C	C	455	35	ZNF711	3	3
POF1B	79983	broad.mit.edu	37	X	84586017	84586017	+	Silent	SNP	C	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84586017C>A	uc004ees.2	-	c.792G>T	c.(790-792)CTG>CTT	p.L264L	POF1B_uc004eer.2_Silent_p.L264L	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	264							actin binding				0														0.329114	68.420452	70.46699	26	53	KEEP	---	---	---	---	capture		Silent	SNP	84586017	84586017	12610	23	C	A	A	A	366	29	POF1B	2	2
CHM	1121	broad.mit.edu	37	X	85211370	85211370	+	Silent	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:85211370G>T	uc004eet.2	-	c.954C>A	c.(952-954)ATC>ATA	p.I318I	CHM_uc011mqz.1_Silent_p.I170I	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	318					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)												0.387755	55.312771	55.854037	19	30	KEEP	---	---	---	---	capture		Silent	SNP	85211370	85211370	3484	23	G	T	T	T	577	45	CHM	2	2
TGIF2LX	90316	broad.mit.edu	37	X	89177631	89177631	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177631C>T	uc004efe.2	+	c.547C>T	c.(547-549)CTC>TTC	p.L183F		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	183					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.2	12.641472	15.14669	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89177631	89177631	16355	23	C	T	T	T	364	28	TGIF2LX	2	2
PCDH11X	27328	broad.mit.edu	37	X	91090669	91090669	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91090669T>C	uc004efk.1	+	c.166T>C	c.(166-168)TCC>CCC	p.S56P	PCDH11X_uc004efl.1_Missense_Mutation_p.S56P|PCDH11X_uc004efo.1_Missense_Mutation_p.S56P|PCDH11X_uc010nmv.1_Missense_Mutation_p.S56P|PCDH11X_uc004efm.1_Missense_Mutation_p.S56P|PCDH11X_uc004efn.1_Missense_Mutation_p.S56P|PCDH11X_uc004efh.1_Missense_Mutation_p.S56P|PCDH11X_uc004efj.1_Missense_Mutation_p.S56P	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	56	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.054795	-5.853797	9.37802	4	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91090669	91090669	11928	23	T	C	C	C	754	58	PCDH11X	4	4
PCDH11X	27328	broad.mit.edu	37	X	91132420	91132420	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91132420G>T	uc004efk.1	+	c.1181G>T	c.(1180-1182)GGC>GTC	p.G394V	PCDH11X_uc004efl.1_Missense_Mutation_p.G394V|PCDH11X_uc004efo.1_Missense_Mutation_p.G394V|PCDH11X_uc010nmv.1_Missense_Mutation_p.G394V|PCDH11X_uc004efm.1_Missense_Mutation_p.G394V|PCDH11X_uc004efn.1_Missense_Mutation_p.G394V|PCDH11X_uc004efh.1_Missense_Mutation_p.G394V|PCDH11X_uc004efj.1_Missense_Mutation_p.G394V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	394	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.349206	61.340324	62.60009	22	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91132420	91132420	11928	23	G	T	T	T	546	42	PCDH11X	2	2
SHROOM2	357	broad.mit.edu	37	X	9864437	9864437	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:9864437G>T	uc004csu.1	+	c.2489G>T	c.(2488-2490)CGG>CTG	p.R830L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	830					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	6		Hepatocellular(5;0.000888)												0.285714	10.495159	11.071558	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9864437	9864437	14789	23	G	T	T	T	507	39	SHROOM2	1	1
SRPX2	27286	broad.mit.edu	37	X	99920563	99920563	+	Silent	SNP	T	A	A			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99920563T>A	uc004egb.2	+	c.690T>A	c.(688-690)TCT>TCA	p.S230S		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	230	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2														0.443548	171.401941	171.747122	55	69	KEEP	---	---	---	---	capture		Silent	SNP	99920563	99920563	15679	23	T	A	A	A	691	54	SRPX2	3	3
SYTL4	94121	broad.mit.edu	37	X	99943358	99943358	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99943358C>G	uc004egd.3	-	c.995G>C	c.(994-996)GGC>GCC	p.G332A	SYTL4_uc010nnb.2_Missense_Mutation_p.G4A|SYTL4_uc010nnc.2_Missense_Mutation_p.G332A|SYTL4_uc004ege.3_Missense_Mutation_p.G332A|SYTL4_uc004egf.3_Missense_Mutation_p.G332A|SYTL4_uc004egg.3_Missense_Mutation_p.G332A	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	332					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.244186	57.531049	62.660131	21	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99943358	99943358	16006	23	C	G	G	G	338	26	SYTL4	3	3
SYTL4	94121	broad.mit.edu	37	X	99956481	99956481	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99956481C>G	uc004egd.3	-	c.299G>C	c.(298-300)TGG>TCG	p.W100S	SYTL4_uc010nnc.2_Missense_Mutation_p.W100S|SYTL4_uc004ege.3_Missense_Mutation_p.W100S|SYTL4_uc004egf.3_Missense_Mutation_p.W100S|SYTL4_uc004egg.3_Missense_Mutation_p.W100S	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	100	RabBD.|FYVE-type.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.241379	63.429813	70.520136	28	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99956481	99956481	16006	23	C	G	G	G	273	21	SYTL4	3	3
PRLHR	2834	broad.mit.edu	37	10	120353677	120353678	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:120353677_120353678insT	uc001ldp.1	-	c.1079_1080insA	c.(1078-1080)CATfs	p.H360fs		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	360	Cytoplasmic (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)										0.36			12	21		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	120353677	120353678	12973	10	-	T	T	T	102	8	PRLHR	5	5
LRRC4C	57689	broad.mit.edu	37	11	40136407	40136408	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:40136407_40136408insT	uc001mxa.1	-	c.1435_1436insA	c.(1435-1437)ACTfs	p.T479fs	LRRC4C_uc001mxc.1_Frame_Shift_Ins_p.T475fs|LRRC4C_uc001mxd.1_Frame_Shift_Ins_p.T475fs|LRRC4C_uc001mxb.1_Frame_Shift_Ins_p.T475fs	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	479					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.32			11	23		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	40136407	40136408	9383	11	-	T	T	T	468	36	LRRC4C	5	5
OR5M11	219487	broad.mit.edu	37	11	56310241	56310241	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310241_56310241delG	uc010rjl.1	-	c.493_493delC	c.(493-495)CTGfs	p.L165fs		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.50			24	24		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	56310241	56310241	11584	11	G	-	-	-	451	35	OR5M11	5	5
PRH1	5554	broad.mit.edu	37	12	11035042	11035042	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11035042_11035042delC	uc001qzc.2	-	c.293_293delG	c.(292-294)GGAfs	p.G98fs	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Non-coding_Transcript|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	98						extracellular space	protein binding				0				BRCA - Breast invasive adenocarcinoma(232;0.245)										0.39			82	126		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	11035042	11035042	12925	12	C	-	-	-	390	30	PRH1	5	5
LRRK2	120892	broad.mit.edu	37	12	40619023	40619026	+	Frame_Shift_Del	DEL	ACAG	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40619023_40619026delACAG	uc001rmg.3	+	c.90_93delACAG	c.(88-93)AAACAGfs	p.K30fs		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	30_31					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771				0.48			12	13		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	40619023	40619026	9409	12	ACAG	-	-	-	24	2	LRRK2	5	5
NBEA	26960	broad.mit.edu	37	13	35644083	35644083	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:35644083_35644083delG	uc001uvb.2	+	c.1278_1278delG	c.(1276-1278)TTGfs	p.L426fs		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	426						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)										0.31			11	25		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	35644083	35644083	10583	13	G	-	-	-	607	47	NBEA	5	5
C15orf55	256646	broad.mit.edu	37	15	34648871	34648871	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34648871_34648871delC	uc010ucc.1	+	c.2662_2662delC	c.(2662-2664)CCCfs	p.P888fs	C15orf55_uc010ucd.1_Frame_Shift_Del_p.P878fs|C15orf55_uc001zif.2_Frame_Shift_Del_p.P860fs	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	860						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.55			48	39		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	34648871	34648871	1853	15	C	-	-	-	234	18	C15orf55	5	5
CYP19A1	1588	broad.mit.edu	37	15	51510758	51510758	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:51510758_51510758delG	uc001zyz.3	-	c.723_723delC	c.(721-723)TACfs	p.Y241fs	CYP19A1_uc001zza.3_Frame_Shift_Del_p.Y241fs|CYP19A1_uc001zzb.2_Frame_Shift_Del_p.Y241fs|CYP19A1_uc001zzc.1_5'Flank	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	241					estrogen biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity				0				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	Melanoma(142;1016 1807 39614 48966 51721)				147				0.66			29	15		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	51510758	51510758	4313	15	G	-	-	-	620	48	CYP19A1	5	5
DCUN1D3	123879	broad.mit.edu	37	16	20871266	20871267	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20871266_20871267insC	uc002dhz.2	-	c.856_857insG	c.(856-858)GAAfs	p.E286fs	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain	286					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				ovary(2)	2				GBM - Glioblastoma multiforme(48;0.249)										0.38			15	25		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	20871266	20871267	4486	16	-	C	C	C	806	62	DCUN1D3	5	5
ZNF671	79891	broad.mit.edu	37	19	58233677	58233699	+	Splice_Site_Del	DEL	CACTCACCAGGTCTAAGTCCCCT	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58233677_58233699delCACTCACCAGGTCTAAGTCCCCT	uc002qpz.3	-	c.388_splice	c.e3+1	p.G130_splice	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Splice_Site_Del_p.G53_splice|ZNF671_uc010yhf.1_Splice_Site_Del_p.G32_splice	NM_024833	NP_079109			zinc finger protein 671						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.41			30	43		---	---	---	---	capture_indel		Splice_Site_Del	DEL	58233677	58233699	18673	19	CACTCACCAGGTCTAAGTCCCCT	-	-	-	261	21	ZNF671	5	5
SLC25A24	29957	broad.mit.edu	37	1	108700237	108700237	+	Frame_Shift_Del	DEL	A	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108700237_108700237delA	uc001dvn.3	-	c.516_516delT	c.(514-516)ATTfs	p.I172fs	SLC25A24_uc001dvm.2_Frame_Shift_Del_p.I153fs	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	172	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)										0.50			39	39		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	108700237	108700237	14984	1	A	-	-	-	60	5	SLC25A24	5	5
SEC16B	89866	broad.mit.edu	37	1	177908913	177908913	+	Splice_Site_Del	DEL	C	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177908913_177908913delC	uc001glj.1	-	c.2131_splice	c.e23-1	p.Q711_splice	SEC16B_uc001glk.1_Splice_Site_Del_p.Q387_splice|SEC16B_uc009wwy.1_Splice_Site_Del_p.Q265_splice|SEC16B_uc001glh.1_Splice_Site_Del_p.Q369_splice|SEC16B_uc009wwz.1_Splice_Site_Del_p.Q369_splice|SEC16B_uc001gli.1_Splice_Site_Del_p.Q710_splice	NM_033127	NP_149118			leucine zipper transcription regulator 2						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4														0.38			5	8		---	---	---	---	capture_indel		Splice_Site_Del	DEL	177908913	177908913	14473	1	C	-	-	-	364	28	SEC16B	5	5
PPP2R5A	5525	broad.mit.edu	37	1	212534110	212534110	+	Frame_Shift_Del	DEL	T	-	-	rs71759537		TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:212534110_212534110delT	uc001hjb.2	+	c.1459_1459delT	c.(1459-1461)TAAfs	p.*487fs	PPP2R5A_uc010ptd.1_Frame_Shift_Del_p.*428fs	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	487					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)										0.31			16	35		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	212534110	212534110	12828	1	T	-	-	-	637	49	PPP2R5A	5	5
SGIP1	84251	broad.mit.edu	37	1	67185075	67185075	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67185075_67185075delG	uc001dcr.2	+	c.1729_1729delG	c.(1729-1731)GCAfs	p.A577fs	SGIP1_uc010opd.1_Frame_Shift_Del_p.A177fs|SGIP1_uc001dcs.2_Frame_Shift_Del_p.A177fs|SGIP1_uc001dct.2_Frame_Shift_Del_p.A179fs|SGIP1_uc009wat.2_Frame_Shift_Del_p.A371fs|SGIP1_uc001dcu.2_Frame_Shift_Del_p.A82fs	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	577					intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.49			32	33		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	67185075	67185075	14697	1	G	-	-	-	442	34	SGIP1	5	5
PTPRZ1	5803	broad.mit.edu	37	7	121691543	121691543	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121691543_121691543delG	uc003vjy.2	+	c.6146_6146delG	c.(6145-6147)AGGfs	p.R2049fs	PTPRZ1_uc003vjz.2_Frame_Shift_Del_p.R1182fs|PTPRZ1_uc011knt.1_Frame_Shift_Del_p.R639fs	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2049	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.34			58	115		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	121691543	121691543	13272	7	G	-	-	-	455	35	PTPRZ1	5	5
SEMA3D	223117	broad.mit.edu	37	7	84628850	84628850	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84628850_84628850delC	uc003uic.2	-	c.2240_2240delG	c.(2239-2241)GGCfs	p.G747fs	SEMA3D_uc010led.2_Frame_Shift_Del_p.G747fs|SEMA3D_uc003uib.2_Frame_Shift_Del_p.G386fs	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	747	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.35			27	51		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	84628850	84628850	14513	7	C	-	-	-	338	26	SEMA3D	5	5
ODF2	4957	broad.mit.edu	37	9	131246315	131246315	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131246315_131246315delC	uc011mbd.1	+	c.1086_1086delC	c.(1084-1086)CGCfs	p.R362fs	ODF2_uc011maz.1_Frame_Shift_Del_p.R362fs|ODF2_uc011mba.1_Frame_Shift_Del_p.R147fs|ODF2_uc010myb.2_Frame_Shift_Del_p.R338fs|ODF2_uc011mbb.1_Frame_Shift_Del_p.R296fs|ODF2_uc011mbc.1_Frame_Shift_Del_p.R281fs|ODF2_uc004bva.2_Frame_Shift_Del_p.R315fs|ODF2_uc004bvb.2_Frame_Shift_Del_p.R338fs|ODF2_uc011mbe.1_Frame_Shift_Del_p.R357fs|ODF2_uc004bvc.2_Frame_Shift_Del_p.R338fs|ODF2_uc010myc.2_Frame_Shift_Del_p.R305fs|ODF2_uc011mbf.1_Frame_Shift_Del_p.R343fs|ODF2_uc004bvd.3_Frame_Shift_Del_p.R362fs|ODF2_uc004bve.2_Frame_Shift_Del_p.R343fs	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	362	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1														0.50			14	14		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	131246315	131246315	11232	9	C	-	-	-	327	26	ODF2	5	5
RNF128	79589	broad.mit.edu	37	X	105937328	105937328	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z022-01	TCGA-17-Z022-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105937328_105937328delG	uc004emk.2	+	c.96_96delG	c.(94-96)GTGfs	p.V32fs		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 2	47						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.39			73	114		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	105937328	105937328	13913	23	G	-	-	-	574	45	RNF128	5	5
