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
SEMA4G	57715	broad.mit.edu	37	10	102738135	102738135	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102738135C>T	uc001krw.1	+	c.519C>T	c.(517-519)GGC>GGT	p.G173G	SEMA4G_uc001krv.2_Non-coding_Transcript|SEMA4G_uc010qpt.1_Silent_p.G173G|SEMA4G_uc001krx.2_Silent_p.G173G|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	173	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)										0.233333	17.625899	19.567327	7	23	KEEP	---	---	---	---	capture		Silent	SNP	102738135	102738135	14522	10	C	T	T	T	327	26	SEMA4G	2	2
CYP17A1	1586	broad.mit.edu	37	10	104594587	104594587	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104594587G>T	uc001kwg.2	-	c.621C>A	c.(619-621)GAC>GAA	p.D207E		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	207					androgen biosynthetic process|glucocorticoid biosynthetic process|oxidation-reduction process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)					154		OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.279661	86.694318	91.871211	33	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104594587	104594587	4312	10	G	T	T	T	620	48	CYP17A1	2	2
ATRNL1	26033	broad.mit.edu	37	10	117040923	117040923	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117040923C>A	uc001lcg.2	+	c.2159C>A	c.(2158-2160)ACC>AAC	p.T720N		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	720	PSI 3.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.255435	121.13863	131.122454	47	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117040923	117040923	1226	10	C	A	A	A	234	18	ATRNL1	2	2
BTBD16	118663	broad.mit.edu	37	10	124049435	124049435	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124049435A>T	uc001lgc.1	+	c.397A>T	c.(397-399)AAG>TAG	p.K133*	BTBD16_uc001lgd.1_Nonsense_Mutation_p.K132*	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	133											0		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)												0.185897	58.877787	73.320197	29	127	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	124049435	124049435	1573	10	A	T	T	T	169	13	BTBD16	5	3
CACNB2	783	broad.mit.edu	37	10	18690929	18690929	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18690929G>T	uc001ipr.2	+	c.290G>T	c.(289-291)AGA>ATA	p.R97I	CACNB2_uc009xjz.1_Missense_Mutation_p.R97I|CACNB2_uc001ips.2_Missense_Mutation_p.R97I|CACNB2_uc001ipt.2_Missense_Mutation_p.R97I|CACNB2_uc010qcl.1_Non-coding_Transcript|CACNB2_uc001ipu.2_Missense_Mutation_p.R69I|CACNB2_uc001ipv.2_Missense_Mutation_p.R69I|CACNB2_uc009xka.1_Missense_Mutation_p.R69I|CACNB2_uc001ipw.2_Missense_Mutation_p.R42I|CACNB2_uc001ipx.2_Missense_Mutation_p.R42I|CACNB2_uc009xkb.1_Missense_Mutation_p.R43I|CACNB2_uc010qcm.1_Missense_Mutation_p.R43I|CACNB2_uc001ipz.2_Missense_Mutation_p.R43I|CACNB2_uc001ipy.2_Missense_Mutation_p.R43I|CACNB2_uc010qcn.1_Missense_Mutation_p.R49I|CACNB2_uc010qco.1_Missense_Mutation_p.R49I|CACNB2_uc001iqa.2_Missense_Mutation_p.R49I	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	97					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)	2					Magnesium Sulfate(DB00653)|Verapamil(DB00661)					328				0.168317	28.815365	39.345684	17	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18690929	18690929	2669	10	G	T	T	T	429	33	CACNB2	2	2
LYZL2	119180	broad.mit.edu	37	10	30915723	30915723	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30915723C>A	uc001ivk.2	-	c.260G>T	c.(259-261)GGC>GTC	p.G87V		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	41					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)												0.103896	19.046871	55.018909	24	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30915723	30915723	9509	10	C	A	A	A	338	26	LYZL2	2	2
NRP1	8829	broad.mit.edu	37	10	33469171	33469171	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:33469171C>G	uc001iwx.3	-	c.2605G>C	c.(2605-2607)GTC>CTC	p.V869L	NRP1_uc001iwv.3_Missense_Mutation_p.V852L|NRP1_uc009xlz.2_Missense_Mutation_p.V863L|NRP1_uc001iww.3_Missense_Mutation_p.V681L|NRP1_uc001iwy.3_Missense_Mutation_p.V862L	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	869	Helical; (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)	3					Palifermin(DB00039)|Pegaptanib(DB04895)	Melanoma(104;886 1489 44640 45944 51153)								0.334495	305.959213	312.894108	96	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33469171	33469171	11065	10	C	G	G	G	234	18	NRP1	3	3
ANKRD30A	91074	broad.mit.edu	37	10	37442585	37442585	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37442585T>C	uc001iza.1	+	c.1625T>C	c.(1624-1626)TTA>TCA	p.L542S		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	598					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.071795	1.407953	38.217819	14	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37442585	37442585	663	10	T	C	C	C	793	61	ANKRD30A	4	4
ARID5B	84159	broad.mit.edu	37	10	63852789	63852789	+	Nonstop_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63852789G>C	uc001jlt.1	+	c.3567G>C	c.(3565-3567)TAG>TAC	p.*1189Y		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1189					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			ovary(2)|kidney(1)	3	Prostate(12;0.016)|all_hematologic(501;0.215)													0.201299	68.940817	81.710266	31	123	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	63852789	63852789	937	10	G	C	C	C	451	35	ARID5B	5	3
ITIH2	3698	broad.mit.edu	37	10	7786107	7786107	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7786107T>A	uc001ijs.2	+	c.2272T>A	c.(2272-2274)TAT>AAT	p.Y758N		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	758					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.253333	49.792498	53.932961	19	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7786107	7786107	8208	10	T	A	A	A	689	53	ITIH2	3	3
PGAM1	5223	broad.mit.edu	37	10	99190889	99190889	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99190889G>C	uc001knh.2	+	c.592G>C	c.(592-594)GAG>CAG	p.E198Q	PGAM1_uc009xvo.2_Intron|PGAM1_uc010qov.1_Missense_Mutation_p.E183Q	NM_002629	NP_002620	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1	198					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding				0		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)										0.075	1.282313	16.109353	6	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99190889	99190889	12196	10	G	C	C	C	533	41	PGAM1	3	3
DYNC2H1	79659	broad.mit.edu	37	11	103178462	103178462	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103178462C>T	uc001phn.1	+	c.11416C>T	c.(11416-11418)CTT>TTT	p.L3806F	DYNC2H1_uc001pho.2_Missense_Mutation_p.L3799F|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3799	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)										0.097561	2.566585	9.218332	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103178462	103178462	5032	11	C	T	T	T	416	32	DYNC2H1	2	2
DSCAML1	57453	broad.mit.edu	37	11	117375700	117375700	+	Silent	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117375700A>G	uc001prh.1	-	c.2301T>C	c.(2299-2301)GGT>GGC	p.G767G		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	707	Extracellular (Potential).|Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.327103	91.890034	94.726176	35	72	KEEP	---	---	---	---	capture		Silent	SNP	117375700	117375700	4953	11	A	G	G	G	67	6	DSCAML1	4	4
C11orf63	79864	broad.mit.edu	37	11	122830081	122830081	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122830081G>T	uc001pym.2	+	c.2265G>T	c.(2263-2265)CTG>CTT	p.L755L		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	755										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)										0.1875	64.958083	79.587268	30	130	KEEP	---	---	---	---	capture		Silent	SNP	122830081	122830081	1693	11	G	T	T	T	600	47	C11orf63	2	2
OR10G9	219870	broad.mit.edu	37	11	123894265	123894265	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123894265C>A	uc010sad.1	+	c.546C>A	c.(544-546)CCC>CCA	p.P182P		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.125761	86.154053	153.531127	62	431	KEEP	---	---	---	---	capture		Silent	SNP	123894265	123894265	11310	11	C	A	A	A	262	21	OR10G9	2	2
OR8B4	283162	broad.mit.edu	37	11	124294723	124294723	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124294723C>A	uc010sak.1	-	c.45G>T	c.(43-45)GTG>GTT	p.V15V		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	15	Extracellular (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;0.0279)										0.170543	42.460549	55.721291	22	107	KEEP	---	---	---	---	capture		Silent	SNP	124294723	124294723	11640	11	C	A	A	A	262	21	OR8B4	2	2
ETS1	2113	broad.mit.edu	37	11	128332264	128332264	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128332264C>T	uc001qej.2	-	c.1450G>A	c.(1450-1452)GAC>AAC	p.D484N	ETS1_uc010sbs.1_Missense_Mutation_p.D440N|ETS1_uc009zch.2_Missense_Mutation_p.D224N|ETS1_uc009zcg.2_3'UTR	NM_001143820	NP_001137292	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	440					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|central_nervous_system(1)|pleura(1)	3	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)										0.071429	-1.4884	6.442296	3	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128332264	128332264	5468	11	C	T	T	T	403	31	ETS1	1	1
SLC6A5	9152	broad.mit.edu	37	11	20639405	20639405	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20639405C>A	uc001mqd.2	+	c.1235C>A	c.(1234-1236)GCT>GAT	p.A412D	SLC6A5_uc009yic.2_Missense_Mutation_p.A177D	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	412	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.066202	-17.818938	38.22297	19	268	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20639405	20639405	15184	11	C	A	A	A	364	28	SLC6A5	2	2
ANO3	63982	broad.mit.edu	37	11	26664849	26664849	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26664849G>A	uc001mqt.3	+	c.2396G>A	c.(2395-2397)CGG>CAG	p.R799Q	ANO3_uc010rdr.1_Missense_Mutation_p.R783Q|ANO3_uc010rds.1_Missense_Mutation_p.R638Q|ANO3_uc010rdt.1_Missense_Mutation_p.R653Q	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	799	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.150943	44.504425	63.057285	24	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26664849	26664849	706	11	G	A	A	A	507	39	ANO3	1	1
TRIM44	54765	broad.mit.edu	37	11	35747573	35747573	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:35747573C>G	uc001mwi.2	+	c.849C>G	c.(847-849)ATC>ATG	p.I283M		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	283						intracellular	protein binding|zinc ion binding				0	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)												0.104	13.602489	33.356715	13	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35747573	35747573	17064	11	C	G	G	G	382	30	TRIM44	3	3
TRIM21	6737	broad.mit.edu	37	11	4406748	4406748	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4406748G>T	uc001lyy.1	-	c.1195C>A	c.(1195-1197)CAC>AAC	p.H399N		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	399	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)										0.266667	37.351508	40.321858	16	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4406748	4406748	17039	11	G	T	T	T	611	47	TRIM21	2	2
OR51D1	390038	broad.mit.edu	37	11	4661248	4661248	+	Silent	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4661248G>C	uc010qyk.1	+	c.228G>C	c.(226-228)CTG>CTC	p.L76L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	76	Helical; Name=2; (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;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.336927	367.383115	376.148191	125	246	KEEP	---	---	---	---	capture		Silent	SNP	4661248	4661248	11503	11	G	C	C	C	600	47	OR51D1	3	3
FOLH1	2346	broad.mit.edu	37	11	49221942	49221942	+	Silent	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49221942A>T	uc001ngy.2	-	c.276T>A	c.(274-276)CTT>CTA	p.L92L	FOLH1_uc001ngz.2_Silent_p.L92L|FOLH1_uc009yly.2_Silent_p.L77L|FOLH1_uc009ylz.2_Silent_p.L77L|FOLH1_uc009yma.2_Intron|FOLH1_uc001nha.2_Silent_p.L77L	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	92	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)	1					Capromab(DB00089)|L-Glutamic Acid(DB00142)									0.101695	3.599434	12.961503	6	53	KEEP	---	---	---	---	capture		Silent	SNP	49221942	49221942	6221	11	A	T	T	T	54	5	FOLH1	3	3
OR10AG1	282770	broad.mit.edu	37	11	55735507	55735507	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55735507G>A	uc010rit.1	-	c.433C>T	c.(433-435)CCT>TCT	p.P145S		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.0137)													0.089552	4.703731	27.488991	12	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55735507	55735507	11303	11	G	A	A	A	533	41	OR10AG1	2	2
OR5M9	390162	broad.mit.edu	37	11	56230199	56230199	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230199G>C	uc010rjj.1	-	c.679C>G	c.(679-681)CGC>GGC	p.R227G		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.15	11.330246	16.022236	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56230199	56230199	11587	11	G	C	C	C	494	38	OR5M9	3	3
OR52N5	390075	broad.mit.edu	37	11	5799408	5799408	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5799408C>A	uc010qzn.1	-	c.457G>T	c.(457-459)GCT>TCT	p.A153S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.141818	59.841342	93.867048	39	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5799408	5799408	11540	11	C	A	A	A	338	26	OR52N5	2	2
MS4A6A	64231	broad.mit.edu	37	11	59949104	59949104	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59949104C>A	uc001nos.3	-	c.181G>T	c.(181-183)GGG>TGG	p.G61W	MS4A6A_uc001noq.2_Missense_Mutation_p.G33W|MS4A6A_uc001nor.2_Missense_Mutation_p.G33W|MS4A6A_uc009ymv.2_Missense_Mutation_p.G33W|MS4A6A_uc001not.2_Missense_Mutation_p.G33W|MS4A6A_uc010rla.1_Missense_Mutation_p.G61W|MS4A6A_uc010rlb.1_Missense_Mutation_p.G33W	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member	33	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.26	194.101362	209.694094	78	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59949104	59949104	10257	11	C	A	A	A	286	22	MS4A6A	2	2
FIBP	9158	broad.mit.edu	37	11	65655166	65655166	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65655166C>A	uc001ogd.2	-	c.316G>T	c.(316-318)GAG>TAG	p.E106*	FIBP_uc009yqu.2_Nonsense_Mutation_p.E103*|FIBP_uc001oge.2_Nonsense_Mutation_p.E106*|FIBP_uc010roq.1_Nonsense_Mutation_p.E106*|FIBP_uc010ror.1_3'UTR|CCDC85B_uc001ogf.2_5'Flank	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	106					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)										0.128	16.707255	33.581702	16	109	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	65655166	65655166	6124	11	C	A	A	A	390	30	FIBP	5	2
MYEOV	26579	broad.mit.edu	37	11	69063509	69063509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:69063509C>T	uc001oov.2	+	c.592C>T	c.(592-594)CGA>TGA	p.R198*	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Nonsense_Mutation_p.R198*|MYEOV_uc001oow.2_Nonsense_Mutation_p.R140*	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	198											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)										0.338235	61.236029	62.794069	23	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69063509	69063509	10420	11	C	T	T	T	347	27	MYEOV	5	1
NLRP14	338323	broad.mit.edu	37	11	7063910	7063910	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7063910G>T	uc001mfb.1	+	c.653G>T	c.(652-654)GGG>GTG	p.G218V		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	218	NACHT.				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)										0.27027	171.152233	183.477143	70	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7063910	7063910	10879	11	G	T	T	T	559	43	NLRP14	2	2
NLRP14	338323	broad.mit.edu	37	11	7079571	7079571	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7079571C>G	uc001mfb.1	+	c.2523C>G	c.(2521-2523)AGC>AGG	p.S841R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	841					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)										0.129032	70.70482	116.387447	44	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7079571	7079571	10879	11	C	G	G	G	324	25	NLRP14	3	3
FAT3	120114	broad.mit.edu	37	11	92087588	92087588	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92087588G>T	uc001pdj.3	+	c.2310G>T	c.(2308-2310)ACG>ACT	p.T770T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	770	Extracellular (Potential).|Cadherin 7.				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)			0.114286	32.42908	68.331936	28	217	KEEP	---	---	---	---	capture		Silent	SNP	92087588	92087588	5927	11	G	T	T	T	496	39	FAT3	1	1
GNPTAB	79158	broad.mit.edu	37	12	102153823	102153823	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:102153823G>C	uc001tit.2	-	c.3234C>G	c.(3232-3234)TAC>TAG	p.Y1078*		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1078					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)	1														0.248908	160.671976	173.899455	57	172	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102153823	102153823	6814	12	G	C	C	C	464	36	GNPTAB	5	3
UNG	7374	broad.mit.edu	37	12	109547637	109547637	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109547637C>T	uc001tnz.1	+	c.805C>T	c.(805-807)CGG>TGG	p.R269W	UNG_uc001toa.1_Missense_Mutation_p.R260W	NM_080911	NP_550433	P13051	UNG_HUMAN	uracil-DNA glycosylase isoform UNG2	269					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)	1														0.137405	25.360107	42.029245	18	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109547637	109547637	17558	12	C	T	T	T	347	27	UNG	1	1
CLIP1	6249	broad.mit.edu	37	12	122862099	122862099	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122862099G>C	uc001ucg.1	-	c.494C>G	c.(493-495)TCA>TGA	p.S165*	CLIP1_uc001uch.1_Nonsense_Mutation_p.S165*|CLIP1_uc001uci.1_Nonsense_Mutation_p.S165*|CLIP1_uc010tae.1_Nonsense_Mutation_p.S165*	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	165	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)										0.117647	37.270012	69.111201	26	195	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	122862099	122862099	3670	12	G	C	C	C	585	45	CLIP1	5	3
GPR133	283383	broad.mit.edu	37	12	131488757	131488757	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:131488757A>T	uc010tbm.1	+	c.1267A>T	c.(1267-1269)AAG>TAG	p.K423*	GPR133_uc001uit.3_Nonsense_Mutation_p.K391*	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	391	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)										0.142857	4.311955	6.892667	3	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	131488757	131488757	6917	12	A	T	T	T	65	5	GPR133	5	3
SLCO1B3	28234	broad.mit.edu	37	12	21242932	21242932	+	Silent	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21242932T>C	uc010sil.1	+	c.2139T>C	c.(2137-2139)CAT>CAC	p.H713H	LST-3TM12_uc010sim.1_Silent_p.H652H|LST-3TM12_uc010sin.1_Silent_p.H605H	LST3		Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	652	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)	3	Esophageal squamous(101;0.149)													0.150442	28.302716	41.541083	17	96	KEEP	---	---	---	---	capture		Silent	SNP	21242932	21242932	15221	12	T	C	C	C	660	51	SLCO1B3	4	4
RARG	5916	broad.mit.edu	37	12	53609510	53609510	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53609510G>A	uc001sce.2	-	c.253C>T	c.(253-255)CGG>TGG	p.R85W	RARG_uc001scd.2_Missense_Mutation_p.R74W|RARG_uc010sob.1_Intron|RARG_uc001scf.2_Missense_Mutation_p.R85W|RARG_uc001scg.2_Missense_Mutation_p.R13W|RARG_uc010soc.1_Intron|RARG_uc010sod.1_Silent_p.L112L	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	85	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)					80				0.055556	-17.773621	15.982065	9	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53609510	53609510	13514	12	G	A	A	A	480	37	RARG	1	1
OR6C4	341418	broad.mit.edu	37	12	55945511	55945511	+	Silent	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55945511T>C	uc010spp.1	+	c.501T>C	c.(499-501)TGT>TGC	p.C167C		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.329609	341.880595	351.119767	118	240	KEEP	---	---	---	---	capture		Silent	SNP	55945511	55945511	11603	12	T	C	C	C	764	59	OR6C4	4	4
A2ML1	144568	broad.mit.edu	37	12	9013836	9013836	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9013836G>A	uc001quz.3	+	c.3445G>A	c.(3445-3447)GAA>AAA	p.E1149K	A2ML1_uc001qva.1_Missense_Mutation_p.E729K|A2ML1_uc010sgm.1_Missense_Mutation_p.E649K	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1 precursor	993						extracellular space	endopeptidase inhibitor activity			ovary(2)	2														0.039106	-28.015073	12.929539	7	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9013836	9013836	6	12	G	A	A	A	533	41	A2ML1	2	2
CDC42BPB	9578	broad.mit.edu	37	14	103430968	103430968	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:103430968C>A	uc001ymi.1	-	c.2597G>T	c.(2596-2598)CGC>CTC	p.R866L	CDC42BPB_uc001ymj.1_5'UTR	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	866					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction|protein phosphorylation	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|lung(2)|ovary(1)|breast(1)|skin(1)	8		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)						1085				0.230769	6.418547	7.282819	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103430968	103430968	3201	14	C	A	A	A	351	27	CDC42BPB	1	1
MARK3	4140	broad.mit.edu	37	14	103966507	103966507	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:103966507A>T	uc001ymz.3	+	c.1886A>T	c.(1885-1887)TAT>TTT	p.Y629F	MARK3_uc001ymx.3_Missense_Mutation_p.Y620F|MARK3_uc001ymw.3_Intron|MARK3_uc001yna.3_Intron|MARK3_uc001ymy.3_Intron|MARK3_uc010awp.2_Intron|MARK3_uc010tyb.1_Missense_Mutation_p.Y424F|MARK3_uc010awq.2_Missense_Mutation_p.Y202F|MARK3_uc001ynd.2_Missense_Mutation_p.Y37F	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	652					protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)	2		Melanoma(154;0.155)	Epithelial(46;0.241)							260		OREG0022950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.56	44.852871	44.931346	14	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103966507	103966507	9697	14	A	T	T	T	208	16	MARK3	3	3
SEC23A	10484	broad.mit.edu	37	14	39508297	39508297	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39508297G>A	uc001wup.1	-	c.2146C>T	c.(2146-2148)CGT>TGT	p.R716C	SEC23A_uc010tqa.1_Missense_Mutation_p.R602C|SEC23A_uc010tqb.1_Missense_Mutation_p.R687C	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	716					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)	4	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)										0.2	56.906894	66.496634	23	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39508297	39508297	14477	14	G	A	A	A	507	39	SEC23A	1	1
FANCM	57697	broad.mit.edu	37	14	45644575	45644575	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45644575G>A	uc001wwd.3	+	c.2618G>A	c.(2617-2619)GGT>GAT	p.G873D	FANCM_uc010anf.2_Missense_Mutation_p.G847D|FANCM_uc001wwe.3_Missense_Mutation_p.G409D|FANCM_uc010ang.2_Missense_Mutation_p.G87D	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	873					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.215909	45.478159	52.030409	19	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45644575	45644575	5907	14	G	A	A	A	572	44	FANCM	2	2
L2HGDH	79944	broad.mit.edu	37	14	50760887	50760887	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50760887C>A	uc001wxu.2	-	c.486G>T	c.(484-486)CCG>CCT	p.P162P	L2HGDH_uc010tqn.1_Silent_p.P162P|L2HGDH_uc010tqo.1_Silent_p.P162P	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor	162					2-oxoglutarate metabolic process|cellular protein metabolic process|oxidation-reduction process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)													0.37037	121.989804	123.577204	40	68	KEEP	---	---	---	---	capture		Silent	SNP	50760887	50760887	8913	14	C	A	A	A	288	23	L2HGDH	1	1
RTN1	6252	broad.mit.edu	37	14	60213011	60213011	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60213011C>A	uc001xen.1	-	c.430G>T	c.(430-432)GGT>TGT	p.G144C		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	144					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)										0.32377	200.458451	207.234099	79	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60213011	60213011	14205	14	C	A	A	A	286	22	RTN1	2	2
PTPN21	11099	broad.mit.edu	37	14	88945912	88945912	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88945912G>A	uc001xwv.3	-	c.1863C>T	c.(1861-1863)AGC>AGT	p.S621S	PTPN21_uc010twc.1_Silent_p.S417S	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	621						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)	3														0.423077	29.522157	29.655775	11	15	KEEP	---	---	---	---	capture		Silent	SNP	88945912	88945912	13243	14	G	A	A	A	490	38	PTPN21	1	1
TYRO3	7301	broad.mit.edu	37	15	41857295	41857295	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41857295C>T	uc001zof.1	+	c.739C>T	c.(739-741)CCA>TCA	p.P247S		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	247	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)						1052				0.088235	1.066535	6.833715	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41857295	41857295	17371	15	C	T	T	T	338	26	TYRO3	2	2
VPS39	23339	broad.mit.edu	37	15	42470654	42470654	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42470654G>A	uc001zpd.2	-	c.866C>T	c.(865-867)TCA>TTA	p.S289L	VPS39_uc001zpc.2_Missense_Mutation_p.S278L	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	289	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)	2		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)										0.298077	164.859182	172.446258	62	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42470654	42470654	17776	15	G	A	A	A	585	45	VPS39	2	2
SEMA6D	80031	broad.mit.edu	37	15	48063473	48063473	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48063473C>G	uc010bek.2	+	c.2713C>G	c.(2713-2715)CAG>GAG	p.Q905E	SEMA6D_uc001zvw.2_Missense_Mutation_p.Q843E|SEMA6D_uc001zvy.2_Missense_Mutation_p.Q905E|SEMA6D_uc001zvz.2_Missense_Mutation_p.Q849E|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.Q843E|SEMA6D_uc001zwc.2_Missense_Mutation_p.Q830E	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	905	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			breast(1)	1		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)										0.199438	155.605798	185.586099	71	285	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48063473	48063473	14528	15	C	G	G	G	273	21	SEMA6D	3	3
IGDCC4	57722	broad.mit.edu	37	15	65682627	65682627	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65682627C>T	uc002aou.1	-	c.2274G>A	c.(2272-2274)GCG>GCA	p.A758A	IGDCC4_uc002aot.1_Silent_p.A346A	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	758	Fibronectin type-III 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.240741	67.973517	74.545237	26	82	KEEP	---	---	---	---	capture		Silent	SNP	65682627	65682627	7870	15	C	T	T	T	288	23	IGDCC4	1	1
CYP1A2	1544	broad.mit.edu	37	15	75044554	75044554	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75044554C>A	uc002ayr.1	+	c.1132C>A	c.(1132-1134)CAC>AAC	p.H378N		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	378					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)					140				0.05868	-29.712485	53.714547	24	385	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75044554	75044554	4315	15	C	A	A	A	221	17	CYP1A2	2	2
SCAPER	49855	broad.mit.edu	37	15	77087752	77087752	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:77087752C>T	uc002bby.2	-	c.641G>A	c.(640-642)CGT>CAT	p.R214H	SCAPER_uc002bbx.2_5'UTR|SCAPER_uc002bbz.1_Missense_Mutation_p.R79H|SCAPER_uc002bca.1_Missense_Mutation_p.R79H|SCAPER_uc002bcb.1_Missense_Mutation_p.R214H|SCAPER_uc002bcc.1_Missense_Mutation_p.R214H	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	213						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3														0.115385	14.436705	29.579523	12	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77087752	77087752	14359	15	C	T	T	T	247	19	SCAPER	1	1
C15orf42	90381	broad.mit.edu	37	15	90135399	90135399	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90135399G>A	uc002boe.2	+	c.1533G>A	c.(1531-1533)GAG>GAA	p.E511E		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	511					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|response to ionizing radiation|S-M checkpoint	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)	6	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)											0.196721	80.408882	96.080556	36	147	KEEP	---	---	---	---	capture		Silent	SNP	90135399	90135399	1846	15	G	A	A	A	464	36	C15orf42	2	2
ZNF710	374655	broad.mit.edu	37	15	90623002	90623002	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90623002G>A	uc002bov.1	+	c.1936G>A	c.(1936-1938)GAG>AAG	p.E646K		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)											0.230769	29.475297	32.927906	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90623002	90623002	18711	15	G	A	A	A	481	37	ZNF710	1	1
CHD2	1106	broad.mit.edu	37	15	93510728	93510728	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:93510728A>C	uc002bsp.2	+	c.2174A>C	c.(2173-2175)CAG>CCG	p.Q725P	CHD2_uc002bso.1_Missense_Mutation_p.Q725P	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	725					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding			ovary(1)	1	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)											0.245033	89.895261	98.841016	37	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93510728	93510728	3459	15	A	C	C	C	91	7	CHD2	4	4
DNAH3	55567	broad.mit.edu	37	16	21045299	21045299	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21045299C>A	uc010vbe.1	-	c.5194G>T	c.(5194-5196)GCA>TCA	p.A1732S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1732	AAA 2 (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)										0.277778	25.542189	27.137389	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21045299	21045299	4786	16	C	A	A	A	351	27	DNAH3	1	1
APOB48R	55911	broad.mit.edu	37	16	28508141	28508141	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28508141G>A	uc002dqb.1	+	c.1752G>A	c.(1750-1752)CTG>CTA	p.L584L	APOB48R_uc010byg.1_Silent_p.L122L	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	584	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.333333	9.993993	10.290205	4	8	KEEP	---	---	---	---	capture		Silent	SNP	28508141	28508141	797	16	G	A	A	A	574	45	APOB48R	2	2
SRCAP	10847	broad.mit.edu	37	16	30723431	30723431	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30723431G>A	uc002dze.1	+	c.1768G>A	c.(1768-1770)GCA>ACA	p.A590T	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A447T|SRCAP_uc010bzz.1_Missense_Mutation_p.A160T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	590					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3			Colorectal(24;0.198)											0.071429	-8.772925	25.692463	13	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30723431	30723431	15649	16	G	A	A	A	442	34	SRCAP	2	2
CREBBP	1387	broad.mit.edu	37	16	3778778	3778778	+	Silent	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3778778G>C	uc002cvv.2	-	c.6270C>G	c.(6268-6270)CTC>CTG	p.L2090L	CREBBP_uc002cvw.2_Silent_p.L2052L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2090					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			ovary(6)|skin(2)|pancreas(1)|lung(1)	10		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)						748				0.350649	83.813075	85.322608	27	50	KEEP	---	---	---	---	capture		Silent	SNP	3778778	3778778	4000	16	G	C	C	C	574	45	CREBBP	3	3
IRX3	79191	broad.mit.edu	37	16	54318157	54318157	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:54318157C>A	uc002eht.1	-	c.1451_splice	c.e3+1	p.R484_splice		NM_024336	NP_077312			iroquois homeobox 3						multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						GBM(143;1830 1866 4487 4646 37383)								0.354839	27.402967	27.984025	11	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54318157	54318157	8149	16	C	A	A	A	234	18	IRX3	5	2
ABAT	18	broad.mit.edu	37	16	8841973	8841973	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:8841973G>C	uc002czc.3	+	c.177G>C	c.(175-177)ATG>ATC	p.M59I	ABAT_uc002czd.3_Missense_Mutation_p.M59I|ABAT_uc010buh.2_Missense_Mutation_p.M1I|ABAT_uc010bui.2_Missense_Mutation_p.M59I	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	59					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding				0					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)									0.375887	187.239188	189.14643	53	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8841973	8841973	28	16	G	C	C	C	585	45	ABAT	3	3
ABAT	18	broad.mit.edu	37	16	8870281	8870281	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:8870281G>T	uc002czc.3	+	c.1203G>T	c.(1201-1203)CGG>CGT	p.R401R	ABAT_uc002czd.3_Silent_p.R401R|ABAT_uc010buh.2_Silent_p.R343R|ABAT_uc010bui.2_Silent_p.R401R	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	401					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding				0					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)									0.15873	14.393627	21.421324	10	53	KEEP	---	---	---	---	capture		Silent	SNP	8870281	8870281	28	16	G	T	T	T	548	43	ABAT	2	2
ACSF3	197322	broad.mit.edu	37	16	89187217	89187217	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89187217G>C	uc002fmp.2	+	c.1135G>C	c.(1135-1137)GGG>CGG	p.G379R	ACSF3_uc010cig.1_Missense_Mutation_p.G379R|ACSF3_uc010cih.1_Missense_Mutation_p.G114R|ACSF3_uc002fmq.1_Non-coding_Transcript|ACSF3_uc010cii.1_Non-coding_Transcript|ACSF3_uc002fmr.1_Missense_Mutation_p.G114R	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	379					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)										0.14	26.346249	38.806554	14	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89187217	89187217	177	16	G	C	C	C	559	43	ACSF3	3	3
SPG7	6687	broad.mit.edu	37	16	89611153	89611153	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89611153C>T	uc002fnj.2	+	c.1422C>T	c.(1420-1422)CAC>CAT	p.H474H	SPG7_uc002fnk.1_Non-coding_Transcript	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	474	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)										0.083333	0.671289	9.13264	4	44	KEEP	---	---	---	---	capture		Silent	SNP	89611153	89611153	15556	16	C	T	T	T	246	19	SPG7	1	1
GRIN2A	2903	broad.mit.edu	37	16	9858337	9858337	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9858337G>A	uc002czo.3	-	c.3064C>T	c.(3064-3066)CGC>TGC	p.R1022C	GRIN2A_uc010uym.1_Missense_Mutation_p.R1022C|GRIN2A_uc010uyn.1_Missense_Mutation_p.R865C|GRIN2A_uc002czr.3_Missense_Mutation_p.R1022C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1022	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.08142	-7.446976	78.007255	39	440	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9858337	9858337	7058	16	G	A	A	A	520	40	GRIN2A	1	1
KSR1	8844	broad.mit.edu	37	17	25936223	25936223	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:25936223G>A	uc010crg.2	+	c.1748G>A	c.(1747-1749)GGC>GAC	p.G583D	KSR1_uc002gzm.2_Missense_Mutation_p.G362D|KSR1_uc002gzn.2_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	718	Protein kinase.				protein phosphorylation|Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		Esophageal Squamous(88;1120 1336 6324 10502 16832)				1488				0.181818	15.574337	19.75904	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25936223	25936223	8904	17	G	A	A	A	546	42	KSR1	2	2
PROCA1	147011	broad.mit.edu	37	17	27031178	27031178	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27031178G>A	uc002hcb.3	-	c.415C>T	c.(415-417)CAT>TAT	p.H139Y	PROCA1_uc010crv.2_Missense_Mutation_p.H65Y|PROCA1_uc002hca.1_Missense_Mutation_p.H137Y	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	165					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)													0.5	99.882699	99.882699	34	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27031178	27031178	12989	17	G	A	A	A	611	47	PROCA1	2	2
MYO1D	4642	broad.mit.edu	37	17	31094726	31094726	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31094726G>A	uc002hho.1	-	c.759C>T	c.(757-759)GCC>GCT	p.A253A	MYO1D_uc002hhp.1_Silent_p.A253A|MYO1D_uc010wcb.1_Silent_p.A253A	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	253	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)											0.089744	11.665502	64.680865	28	284	KEEP	---	---	---	---	capture		Silent	SNP	31094726	31094726	10466	17	G	A	A	A	600	47	MYO1D	2	2
C17orf98	388381	broad.mit.edu	37	17	36991492	36991492	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36991492G>A	uc002hqv.2	-	c.415C>T	c.(415-417)CGT>TGT	p.R139C		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	hypothetical protein LOC388381	139											0														0.084507	1.627369	13.94865	6	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36991492	36991492	1953	17	G	A	A	A	507	39	C17orf98	1	1
ACBD4	79777	broad.mit.edu	37	17	43213883	43213883	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43213883C>T	uc010wjj.1	+	c.105C>T	c.(103-105)TCC>TCT	p.S35S	ACBD4_uc002iid.2_Silent_p.S35S|ACBD4_uc002iie.2_Silent_p.S35S|ACBD4_uc002iif.2_Silent_p.S35S|ACBD4_uc002iic.2_Silent_p.S35S|ACBD4_uc010dae.2_5'UTR	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	35	ACB.						fatty-acyl-CoA binding			ovary(1)|kidney(1)	2														0.048193	-9.765764	8.251605	4	79	KEEP	---	---	---	---	capture		Silent	SNP	43213883	43213883	125	17	C	T	T	T	301	24	ACBD4	2	2
CHRNE	1145	broad.mit.edu	37	17	4804455	4804455	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4804455G>T	uc002fzk.1	-	c.632C>A	c.(631-633)CCG>CAG	p.P211Q	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	211	Extracellular (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0														0.56	40.302348	40.394925	14	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4804455	4804455	3529	17	G	T	T	T	507	39	CHRNE	1	1
CACNA1G	8913	broad.mit.edu	37	17	48646649	48646649	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48646649G>A	uc002irk.1	+	c.478G>A	c.(478-480)GTC>ATC	p.V160I	CACNA1G_uc002iri.1_Missense_Mutation_p.V160I|CACNA1G_uc002irj.1_Missense_Mutation_p.V160I|CACNA1G_uc002irl.1_Missense_Mutation_p.V160I|CACNA1G_uc002irm.1_Missense_Mutation_p.V160I|CACNA1G_uc002irn.1_Missense_Mutation_p.V160I|CACNA1G_uc002iro.1_Missense_Mutation_p.V160I|CACNA1G_uc002irp.1_Missense_Mutation_p.V160I|CACNA1G_uc002irq.1_Missense_Mutation_p.V160I|CACNA1G_uc002irr.1_Missense_Mutation_p.V160I|CACNA1G_uc002irs.1_Missense_Mutation_p.V160I|CACNA1G_uc002irt.1_Missense_Mutation_p.V160I|CACNA1G_uc002irv.1_Missense_Mutation_p.V160I|CACNA1G_uc002irw.1_Missense_Mutation_p.V160I|CACNA1G_uc002iru.1_Missense_Mutation_p.V160I|CACNA1G_uc002irx.1_Missense_Mutation_p.V73I|CACNA1G_uc002iry.1_Missense_Mutation_p.V73I|CACNA1G_uc002irz.1_Missense_Mutation_p.V73I|CACNA1G_uc002isa.1_Missense_Mutation_p.V73I|CACNA1G_uc002isb.1_Missense_Mutation_p.V73I|CACNA1G_uc002isc.1_Missense_Mutation_p.V73I|CACNA1G_uc002isd.1_Missense_Mutation_p.V73I|CACNA1G_uc002ise.1_Missense_Mutation_p.V73I|CACNA1G_uc002isf.1_Missense_Mutation_p.V73I|CACNA1G_uc002isg.1_Missense_Mutation_p.V73I|CACNA1G_uc002ish.1_Missense_Mutation_p.V73I|CACNA1G_uc002isi.1_Missense_Mutation_p.V73I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	160	I.|Helical; Name=S3 of repeat I; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.121212	7.357123	16.650342	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48646649	48646649	2660	17	G	A	A	A	520	40	CACNA1G	1	1
EPX	8288	broad.mit.edu	37	17	56277029	56277029	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56277029C>T	uc002ivq.2	+	c.1411C>T	c.(1411-1413)CGC>TGC	p.R471C		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	471					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.317073	34.292839	35.495822	13	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56277029	56277029	5393	17	C	T	T	T	299	23	EPX	1	1
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	A	A	rs28934571		TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577534C>A	uc002gim.2	-	c.747G>T	c.(745-747)AGG>AGT	p.R249S	TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R249S(303)|p.0?(6)|p.R249R(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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.R249S(ALEXANDERCELLS-Tumor)|p.R249S(ISTMES2-Tumor)|p.R249S(BT549-Tumor)|p.R249S(NCIH1105-Tumor)|p.R249S(KNS62-Tumor)|p.R249S(JHH4-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.401786	123.571888	124.47701	45	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577534	7577534	16923	17	C	A	A	A	337	26	TP53	2	2
TRAPPC1	58485	broad.mit.edu	37	17	7833933	7833933	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7833933C>A	uc002gjo.1	-	c.429G>T	c.(427-429)CGG>CGT	p.R143R	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	143					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)												0.470588	47.342012	47.362829	16	18	KEEP	---	---	---	---	capture		Silent	SNP	7833933	7833933	17000	17	C	A	A	A	275	22	TRAPPC1	2	2
FN3KRP	79672	broad.mit.edu	37	17	80684448	80684448	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80684448G>T	uc002kfu.2	+	c.561G>T	c.(559-561)AGG>AGT	p.R187S	FN3KRP_uc010wvr.1_Missense_Mutation_p.R137S	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	187							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)											0.564885	228.75441	229.234496	74	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80684448	80684448	6206	17	G	T	T	T	555	43	FN3KRP	2	2
DSG4	147409	broad.mit.edu	37	18	28991303	28991303	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28991303C>T	uc002kwr.2	+	c.2304C>T	c.(2302-2304)GCC>GCT	p.A768A	DSG4_uc002kwq.2_Silent_p.A749A	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 1 preproprotein	749	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.485294	92.202016	92.212609	33	35	KEEP	---	---	---	---	capture		Silent	SNP	28991303	28991303	4963	18	C	T	T	T	288	23	DSG4	1	1
SETBP1	26040	broad.mit.edu	37	18	42643638	42643638	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42643638G>A	uc010dni.2	+	c.4766G>A	c.(4765-4767)GGG>GAG	p.G1589E		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1589						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.333333	19.313448	19.832343	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42643638	42643638	14617	18	G	A	A	A	559	43	SETBP1	2	2
CCDC151	115948	broad.mit.edu	37	19	11534596	11534596	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11534596C>G	uc002mrs.2	-	c.1066G>C	c.(1066-1068)GAG>CAG	p.E356Q	CCDC151_uc002mrr.2_Missense_Mutation_p.E291Q|CCDC151_uc010dxz.2_Missense_Mutation_p.E296Q	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	356										ovary(1)	1														0.155556	15.295373	20.394415	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11534596	11534596	2906	19	C	G	G	G	390	30	CCDC151	3	3
ZNF564	163050	broad.mit.edu	37	19	12639124	12639124	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12639124A>T	uc002mty.2	-	c.185T>A	c.(184-186)ATT>AAT	p.I62N	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.184211	27.805606	34.917496	14	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12639124	12639124	18590	19	A	T	T	T	52	4	ZNF564	3	3
OR1I1	126370	broad.mit.edu	37	19	15197931	15197931	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15197931G>A	uc010xoe.1	+	c.55G>A	c.(55-57)GAA>AAA	p.E19K		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3														0.054348	-9.195953	10.06109	5	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15197931	15197931	11364	19	G	A	A	A	429	33	OR1I1	2	2
CALR3	125972	broad.mit.edu	37	19	16591450	16591450	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16591450C>A	uc002ned.2	-	c.986G>T	c.(985-987)GGC>GTC	p.G329V	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	329	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0														0.190476	8.988247	10.868532	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16591450	16591450	2710	19	C	A	A	A	338	26	CALR3	2	2
NXNL1	115861	broad.mit.edu	37	19	17571670	17571670	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17571670G>A	uc002ngs.2	-	c.9C>T	c.(7-9)TCC>TCT	p.S3S		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	3	Thioredoxin.				cell redox homeostasis	nuclear outer membrane					0														0.1875	5.714246	7.179013	3	13	KEEP	---	---	---	---	capture		Silent	SNP	17571670	17571670	11193	19	G	A	A	A	548	43	NXNL1	2	2
ZNF91	7644	broad.mit.edu	37	19	23544835	23544835	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23544835G>C	uc002nre.2	-	c.946C>G	c.(946-948)CAT>GAT	p.H316D	ZNF91_uc010xrj.1_Missense_Mutation_p.H284D	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	316	C2H2-type 6.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)												0.27381	143.175987	150.920023	46	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23544835	23544835	18804	19	G	C	C	C	585	45	ZNF91	3	3
SBSN	374897	broad.mit.edu	37	19	36017586	36017586	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36017586C>T	uc002oad.1	-	c.1598G>A	c.(1597-1599)GGG>GAG	p.G533E	SBSN_uc002oae.1_Missense_Mutation_p.G190E	NM_198538	NM_198538	Q6UWP8	SBSN_HUMAN	suprabasin isoform 2 precursor	190	Ala/Gly/His-rich.			G -> W (in Ref. 2; BAF83994).		extracellular region				ovary(1)	1	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)											0.314607	74.874003	77.592601	28	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36017586	36017586	14345	19	C	T	T	T	286	22	SBSN	2	2
U2AF1L4	199746	broad.mit.edu	37	19	36234710	36234710	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36234710C>G	uc002obf.2	-	c.403G>C	c.(403-405)GGT>CGT	p.G135R	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_5'UTR|U2AF1L4_uc002obh.1_Missense_Mutation_p.Q52H|U2AF1L4_uc002obe.2_Missense_Mutation_p.R154T|U2AF1L4_uc002obg.2_Missense_Mutation_p.R95T|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank	NM_144987	NP_659424	Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	Error:Variant_position_missing_in_Q8WU68_after_alignment					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	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)											0.2	5.214969	6.472545	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36234710	36234710	17379	19	C	G	G	G	312	24	U2AF1L4	3	3
RASGRP4	115727	broad.mit.edu	37	19	38903629	38903629	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38903629G>T	uc002oir.2	-	c.1477C>A	c.(1477-1479)CGA>AGA	p.R493R	RASGRP4_uc010efz.1_Non-coding_Transcript|RASGRP4_uc010ega.1_Non-coding_Transcript|RASGRP4_uc010xua.1_Silent_p.R424R|RASGRP4_uc010xub.1_Silent_p.R459R|RASGRP4_uc010xuc.1_Silent_p.R401R|RASGRP4_uc010xud.1_Silent_p.R396R|RASGRP4_uc010xue.1_Silent_p.R304R|RASGRP4_uc010egb.2_Silent_p.R479R	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	493	EF-hand.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|skin(1)	2	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)											0.152778	19.29491	27.58843	11	61	KEEP	---	---	---	---	capture		Silent	SNP	38903629	38903629	13538	19	G	T	T	T	493	38	RASGRP4	1	1
SHKBP1	92799	broad.mit.edu	37	19	41096894	41096894	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41096894C>A	uc002oob.2	+	c.1905C>A	c.(1903-1905)GCC>GCA	p.A635A	SHKBP1_uc002ooc.2_Silent_p.A610A|SHKBP1_uc002ood.2_Silent_p.A543A|SHKBP1_uc002ooe.2_Silent_p.A472A|SHKBP1_uc002oof.2_Silent_p.A471A|SHKBP1_uc010xvm.1_Silent_p.A415A|SHKBP1_uc010xvn.1_Silent_p.A513A|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	635						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.222222	8.889309	10.168019	4	14	KEEP	---	---	---	---	capture		Silent	SNP	41096894	41096894	14779	19	C	A	A	A	301	24	SHKBP1	2	2
TGFB1	7040	broad.mit.edu	37	19	41847856	41847856	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41847856C>T	uc002oqh.1	-	c.792G>A	c.(790-792)CCG>CCA	p.P264P	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	264					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|macrophage derived foam cell differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|transcription activator activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)					70				0.09375	1.117793	6.412241	3	29	KEEP	---	---	---	---	capture		Silent	SNP	41847856	41847856	16344	19	C	T	T	T	340	27	TGFB1	1	1
XRCC1	7515	broad.mit.edu	37	19	44047545	44047545	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44047545C>T	uc002owt.2	-	c.1901G>A	c.(1900-1902)TGA>TAA	p.*634*	XRCC1_uc010xwp.1_Silent_p.*603*	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	634					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4		Prostate(69;0.0153)												0.142857	10.962501	17.853277	8	48	KEEP	---	---	---	---	capture		Silent	SNP	44047545	44047545	18035	19	C	T	T	T	376	29	XRCC1	2	2
PLAUR	5329	broad.mit.edu	37	19	44153059	44153059	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44153059T>C	uc002oxf.1	-	c.991A>G	c.(991-993)ACT>GCT	p.T331A	PLAUR_uc002oxd.1_Intron|PLAUR_uc002oxe.1_Missense_Mutation_p.T326A|PLAUR_uc002oxg.1_Missense_Mutation_p.T286A	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	331					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)									0.318182	105.128731	109.111532	42	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44153059	44153059	12449	19	T	C	C	C	767	59	PLAUR	4	4
CCDC8	83987	broad.mit.edu	37	19	46915351	46915351	+	Silent	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46915351C>G	uc002pep.2	-	c.717G>C	c.(715-717)GCG>GCC	p.A239A		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	239						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)										0.346154	28.168484	28.711185	9	17	KEEP	---	---	---	---	capture		Silent	SNP	46915351	46915351	2977	19	C	G	G	G	340	27	CCDC8	3	3
SYT3	84258	broad.mit.edu	37	19	51128456	51128456	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51128456G>A	uc002pst.2	-	c.1670C>T	c.(1669-1671)CCC>CTC	p.P557L	SYT3_uc002psv.2_Missense_Mutation_p.P557L|SYT3_uc010ycd.1_Missense_Mutation_p.P557L	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	557	Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)										0.266667	10.300348	11.033753	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51128456	51128456	15996	19	G	A	A	A	559	43	SYT3	2	2
SIGLEC5	8778	broad.mit.edu	37	19	52130877	52130877	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52130877C>T	uc002pxe.2	-	c.1120G>A	c.(1120-1122)GGG>AGG	p.G374R		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	374	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(1)	2		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)										0.35	16.907892	17.309677	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52130877	52130877	14806	19	C	T	T	T	286	22	SIGLEC5	2	2
HAS1	3036	broad.mit.edu	37	19	52222521	52222521	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52222521C>A	uc002pxn.1	-	c.661G>T	c.(661-663)GGC>TGC	p.G221C	HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Missense_Mutation_p.G179C|HAS1_uc002pxo.1_Missense_Mutation_p.G214C|HAS1_uc002pxp.1_Missense_Mutation_p.G213C	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	214	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		NSCLC(132;636 2450 45807 47979)								0.265823	55.548789	59.457294	21	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52222521	52222521	7243	19	C	A	A	A	299	23	HAS1	1	1
NLRP7	199713	broad.mit.edu	37	19	55449547	55449547	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55449547G>T	uc010esl.2	-	c.2078C>A	c.(2077-2079)ACA>AAA	p.T693K	NLRP7_uc002qig.3_Intron|NLRP7_uc002qii.3_Missense_Mutation_p.T665K|NLRP7_uc002qih.3_Missense_Mutation_p.T665K|NLRP7_uc010esk.2_Missense_Mutation_p.T665K	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	665							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.03629	-40.205506	17.612572	9	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55449547	55449547	10885	19	G	T	T	T	624	48	NLRP7	2	2
PTPRH	5794	broad.mit.edu	37	19	55718315	55718315	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55718315G>T	uc002qjq.2	-	c.94C>A	c.(94-96)CCA>ACA	p.P32T	PTPRH_uc010esv.2_Missense_Mutation_p.P32T|PTPRH_uc002qjs.2_Missense_Mutation_p.P39T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	32	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)	3		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)										0.520833	77.972119	77.990025	25	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55718315	55718315	13260	19	G	T	T	T	559	43	PTPRH	2	2
PEG3	5178	broad.mit.edu	37	19	57334976	57334976	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57334976A>G	uc002qnu.2	-	c.466T>C	c.(466-468)TCA>CCA	p.S156P	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.S30P|ZIM2_uc002qnq.2_Missense_Mutation_p.S30P|ZIM2_uc010etp.2_Missense_Mutation_p.S30P|ZIM2_uc010ygs.1_Missense_Mutation_p.S30P|PEG3_uc002qnt.2_Missense_Mutation_p.S156P|PEG3_uc002qnv.2_Missense_Mutation_p.S156P|PEG3_uc002qnw.2_Missense_Mutation_p.S30P|PEG3_uc002qnx.2_Missense_Mutation_p.S30P|PEG3_uc010etr.2_Missense_Mutation_p.S156P	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	156					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.276923	105.168414	110.976369	36	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57334976	57334976	12141	19	A	G	G	G	143	11	PEG3	4	4
ZNF772	400720	broad.mit.edu	37	19	57985130	57985130	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57985130C>A	uc002qot.2	-	c.982G>T	c.(982-984)GGG>TGG	p.G328W	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Missense_Mutation_p.G287W|ZNF772_uc010ygz.1_Missense_Mutation_p.G216W|ZNF772_uc010yha.1_Missense_Mutation_p.G274W|ZNF772_uc002qou.2_Missense_Mutation_p.G216W	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	328	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		Melanoma(5;289 436 14293 15924 30817)								0.247826	144.547166	157.869024	57	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57985130	57985130	18743	19	C	A	A	A	273	21	ZNF772	2	2
ZNF329	79673	broad.mit.edu	37	19	58639392	58639392	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58639392C>A	uc002qrn.2	-	c.1479G>T	c.(1477-1479)AAG>AAT	p.K493N	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	493	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)										0.184874	44.471753	55.560989	22	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58639392	58639392	18439	19	C	A	A	A	363	28	ZNF329	2	2
CLEC4M	10332	broad.mit.edu	37	19	7828197	7828197	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7828197G>A	uc002mih.2	+	c.45G>A	c.(43-45)CTG>CTA	p.L15L	CLEC4M_uc010xjv.1_Silent_p.L15L|CLEC4M_uc002mhy.2_Silent_p.L15L|CLEC4M_uc010xjw.1_Silent_p.L15L|CLEC4M_uc010dvt.2_Silent_p.L15L|CLEC4M_uc010dvs.2_Silent_p.L15L|CLEC4M_uc010xjx.1_Silent_p.L15L|CLEC4M_uc002mhz.2_Silent_p.L15L|CLEC4M_uc002mic.2_Silent_p.L15L|CLEC4M_uc002mia.2_Silent_p.L15L	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	15	Endocytosis signal (By similarity).|Cytoplasmic (Probable).				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1														0.117647	19.707739	39.25356	16	120	KEEP	---	---	---	---	capture		Silent	SNP	7828197	7828197	3656	19	G	A	A	A	600	47	CLEC4M	2	2
ANGPTL4	51129	broad.mit.edu	37	19	8429470	8429470	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8429470C>G	uc002mjq.1	+	c.265C>G	c.(265-267)CTC>GTC	p.L89V	ANGPTL4_uc002mjr.1_Missense_Mutation_p.L89V|ANGPTL4_uc010xkc.1_Intron	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	89					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1										110				0.444444	11.300014	11.323945	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8429470	8429470	619	19	C	G	G	G	312	24	ANGPTL4	3	3
MTOR	2475	broad.mit.edu	37	1	11319410	11319410	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11319410C>A	uc001asd.2	-	c.57G>T	c.(55-57)GTG>GTT	p.V19V		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	19	HEAT 1.				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				0.221053	45.535687	52.333275	21	74	KEEP	---	---	---	---	capture		Silent	SNP	11319410	11319410	10347	1	C	A	A	A	366	29	MTOR	2	2
AMPD1	270	broad.mit.edu	37	1	115220124	115220124	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115220124C>T	uc001efe.1	-	c.1236G>A	c.(1234-1236)GCG>GCA	p.A412A	AMPD1_uc001eff.1_Silent_p.A408A	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	412					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)									0.4	45.747335	46.079064	16	24	KEEP	---	---	---	---	capture		Silent	SNP	115220124	115220124	588	1	C	T	T	T	288	23	AMPD1	1	1
ADAM30	11085	broad.mit.edu	37	1	120436901	120436901	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120436901A>T	uc001eij.2	-	c.2059T>A	c.(2059-2061)TGG>AGG	p.W687R		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	687	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)										0.279412	96.296104	102.247675	38	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120436901	120436901	249	1	A	T	T	T	65	5	ADAM30	3	3
PRAMEF12	390999	broad.mit.edu	37	1	12835253	12835253	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12835253G>T	uc001aui.2	+	c.243G>T	c.(241-243)GTG>GTT	p.V81V		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	81										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.20155	56.571533	67.256133	26	103	KEEP	---	---	---	---	capture		Silent	SNP	12835253	12835253	12864	1	G	T	T	T	587	46	PRAMEF12	2	2
PI4KB	5298	broad.mit.edu	37	1	151288800	151288800	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151288800T>A	uc001exr.2	-	c.194A>T	c.(193-195)CAG>CTG	p.Q65L	PI4KB_uc001exs.2_Missense_Mutation_p.Q53L|PI4KB_uc001ext.2_Missense_Mutation_p.Q53L|PI4KB_uc001exu.2_Missense_Mutation_p.Q53L|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.Q65L	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	53					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			Colon(154;765 1838 9854 28443 37492)				342				0.148387	42.452326	60.820336	23	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151288800	151288800	12298	1	T	A	A	A	715	55	PI4KB	3	3
HRNR	388697	broad.mit.edu	37	1	152187728	152187728	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152187728C>T	uc001ezt.1	-	c.6377G>A	c.(6376-6378)GGC>GAC	p.G2126D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2126	23.				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)											0.048913	-21.420422	18.302738	9	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152187728	152187728	7653	1	C	T	T	T	338	26	HRNR	2	2
C1orf110	339512	broad.mit.edu	37	1	162829265	162829265	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162829265G>A	uc001gck.2	-	c.172C>T	c.(172-174)CAG>TAG	p.Q58*	C1orf110_uc009wux.1_Nonsense_Mutation_p.Q58*	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	hypothetical protein LOC339512	58	Potential.										0														0.490909	77.218758	77.222783	27	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	162829265	162829265	2050	1	G	A	A	A	598	46	C1orf110	5	2
ARHGEF19	128272	broad.mit.edu	37	1	16528322	16528322	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16528322G>C	uc001ayc.1	-	c.2101C>G	c.(2101-2103)CCC>GCC	p.P701A	ARHGEF19_uc009voo.1_Missense_Mutation_p.P54A|ARHGEF19_uc001ayb.1_Missense_Mutation_p.P178A	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	701	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)										0.096774	0.792561	10.95228	6	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16528322	16528322	916	1	G	C	C	C	559	43	ARHGEF19	3	3
NADK	65220	broad.mit.edu	37	1	1685608	1685608	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1685608G>A	uc001aie.2	-	c.1418C>T	c.(1417-1419)GCG>GTG	p.A473V	NADK_uc009vkw.2_Missense_Mutation_p.A328V|NADK_uc001aic.2_Missense_Mutation_p.A328V|NADK_uc001aid.3_Missense_Mutation_p.A328V|NADK_uc010nyv.1_Missense_Mutation_p.A296V|NADK_uc009vkx.1_3'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	328	Poly-Ala.				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)										0.131579	6.453959	11.463599	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1685608	1685608	10533	1	G	A	A	A	494	38	NADK	1	1
EIF4G3	8672	broad.mit.edu	37	1	21187009	21187009	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21187009C>A	uc001bef.2	-	c.3053G>T	c.(3052-3054)TGC>TTC	p.C1018F	EIF4G3_uc010odi.1_Missense_Mutation_p.C586F|EIF4G3_uc010odj.1_Missense_Mutation_p.C981F|EIF4G3_uc009vpz.2_Missense_Mutation_p.C702F|EIF4G3_uc001bec.2_Missense_Mutation_p.C982F|EIF4G3_uc001bed.2_Missense_Mutation_p.C982F|EIF4G3_uc001bee.2_Missense_Mutation_p.C988F	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	982	eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 5.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)										0.244186	51.529227	56.660172	21	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21187009	21187009	5229	1	C	A	A	A	325	25	EIF4G3	2	2
CENPF	1063	broad.mit.edu	37	1	214816606	214816606	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214816606G>T	uc001hkm.2	+	c.4925G>T	c.(4924-4926)CGA>CTA	p.R1642L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1738	Potential.				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)								0.128205	27.458627	48.430782	20	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214816606	214816606	3364	1	G	T	T	T	481	37	CENPF	1	1
RYR2	6262	broad.mit.edu	37	1	237957224	237957224	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237957224G>T	uc001hyl.1	+	c.13840G>T	c.(13840-13842)GGG>TGG	p.G4614W	RYR2_uc010pyb.1_Missense_Mutation_p.G47W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4614					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)											0.441558	104.93758	105.167124	34	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237957224	237957224	14249	1	G	T	T	T	611	47	RYR2	2	2
OR2T6	254879	broad.mit.edu	37	1	248551473	248551473	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248551473C>A	uc001iei.1	+	c.564C>A	c.(562-564)GCC>GCA	p.A188A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.508197	91.616559	91.619969	31	30	KEEP	---	---	---	---	capture		Silent	SNP	248551473	248551473	11435	1	C	A	A	A	301	24	OR2T6	2	2
SPOCD1	90853	broad.mit.edu	37	1	32280141	32280141	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32280141C>A	uc001bts.1	-	c.794G>T	c.(793-795)GGG>GTG	p.G265V	SPOCD1_uc001btu.2_Missense_Mutation_p.G265V|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	265										ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)										0.207547	23.420623	27.603613	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32280141	32280141	15591	1	C	A	A	A	286	22	SPOCD1	2	2
TSSK3	81629	broad.mit.edu	37	1	32829703	32829703	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32829703T>C	uc001bvf.2	+	c.653T>C	c.(652-654)ATG>ACG	p.M218T		NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	218	Protein kinase.				cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)								55				0.26009	153.179055	164.781207	58	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32829703	32829703	17223	1	T	C	C	C	663	51	TSSK3	4	4
C1orf173	127254	broad.mit.edu	37	1	75038553	75038553	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75038553C>G	uc001dgg.2	-	c.2841G>C	c.(2839-2841)GAG>GAC	p.E947D		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	947	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.109299	38.70394	132.243261	67	546	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75038553	75038553	2081	1	C	G	G	G	311	24	C1orf173	3	3
C1orf173	127254	broad.mit.edu	37	1	75107014	75107014	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75107014C>T	uc001dgg.2	-	c.444_splice	c.e5+1	p.L148_splice		NM_001002912	NP_001002912			hypothetical protein LOC127254											ovary(3)|central_nervous_system(1)	4														0.228102	290.852488	327.985569	125	423	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	75107014	75107014	2081	1	C	T	T	T	234	18	C1orf173	5	2
AK5	26289	broad.mit.edu	37	1	78001585	78001585	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78001585C>A	uc001dhn.2	+	c.1482C>A	c.(1480-1482)ACC>ACA	p.T494T	AK5_uc001dho.2_Silent_p.T468T	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	494					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1														0.095238	0.463303	7.3851	4	38	KEEP	---	---	---	---	capture		Silent	SNP	78001585	78001585	446	1	C	A	A	A	262	21	AK5	2	2
GBP5	115362	broad.mit.edu	37	1	89730409	89730409	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89730409G>C	uc001dnc.2	-	c.1109C>G	c.(1108-1110)TCT>TGT	p.S370C	GBP5_uc001dnd.2_Missense_Mutation_p.S370C|GBP5_uc001dne.1_Missense_Mutation_p.S370C	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	370						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)										0.210526	87.432714	99.203024	32	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89730409	89730409	6543	1	G	C	C	C	429	33	GBP5	3	3
SIGLEC1	6614	broad.mit.edu	37	20	3669805	3669805	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3669805C>A	uc002wja.2	-	c.5067G>T	c.(5065-5067)ACG>ACT	p.T1689T	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Intron	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1689	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|breast(1)|central_nervous_system(1)	8														0.175926	36.569837	47.257289	19	89	KEEP	---	---	---	---	capture		Silent	SNP	3669805	3669805	14800	20	C	A	A	A	340	27	SIGLEC1	1	1
SLC23A2	9962	broad.mit.edu	37	20	4855301	4855301	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4855301T>G	uc002wlg.1	-	c.866A>C	c.(865-867)AAT>ACT	p.N289T	SLC23A2_uc010zqr.1_Missense_Mutation_p.N174T|SLC23A2_uc002wlh.1_Missense_Mutation_p.N289T|SLC23A2_uc002wli.2_Missense_Mutation_p.N288T	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	289					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														0.401338	414.319258	416.869238	120	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4855301	4855301	14960	20	T	G	G	G	676	52	SLC23A2	4	4
GNAS	2778	broad.mit.edu	37	20	57415311	57415311	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57415311C>T	uc002xzt.2	+	c.150C>T	c.(148-150)GCC>GCT	p.A50A	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|large_intestine(5)|parathyroid(5)|kidney(5)|lung(2)|testis(1)|autonomic_ganglia(1)	279	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			Colon(117;935 1597 6045 8307 46442)				461	TSP Lung(22;0.16)			0.15	10.659829	15.328401	6	34	KEEP	---	---	---	---	capture		Silent	SNP	57415311	57415311	6779	20	C	T	T	T	275	22	GNAS	2	2
ZNF831	128611	broad.mit.edu	37	20	57769519	57769519	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57769519G>C	uc002yan.2	+	c.3445G>C	c.(3445-3447)GAG>CAG	p.E1149Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1149						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.193182	42.238346	49.960253	17	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57769519	57769519	18784	20	G	C	C	C	429	33	ZNF831	3	3
GTPBP5	26164	broad.mit.edu	37	20	60774238	60774238	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60774238G>C	uc002yce.3	+	c.751G>C	c.(751-753)GTG>CTG	p.V251L	GTPBP5_uc011aab.1_Missense_Mutation_p.V23L|GTPBP5_uc011aac.1_Missense_Mutation_p.V23L|GTPBP5_uc011aad.1_Missense_Mutation_p.V23L|GTPBP5_uc011aae.1_Missense_Mutation_p.V23L|GTPBP5_uc011aaf.1_Intron	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	251	G.|Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)											0.62069	61.05713	61.429389	18	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60774238	60774238	7163	20	G	C	C	C	520	40	GTPBP5	3	3
NCAM2	4685	broad.mit.edu	37	21	22790887	22790887	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22790887C>A	uc002yld.1	+	c.1478C>A	c.(1477-1479)GCT>GAT	p.A493D	NCAM2_uc011acb.1_Missense_Mutation_p.A351D	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	493	Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)										0.111111	11.71528	27.870169	12	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22790887	22790887	10602	21	C	A	A	A	364	28	NCAM2	2	2
NCAM2	4685	broad.mit.edu	37	21	22881186	22881186	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22881186G>T	uc002yld.1	+	c.2092G>T	c.(2092-2094)GGT>TGT	p.G698C	NCAM2_uc011acb.1_Missense_Mutation_p.G556C	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	698	Helical; (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)										0.177778	46.409985	59.617879	24	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22881186	22881186	10602	21	G	T	T	T	611	47	NCAM2	2	2
GRIK1	2897	broad.mit.edu	37	21	31062244	31062244	+	Silent	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31062244G>C	uc011acs.1	-	c.348C>G	c.(346-348)GTC>GTG	p.V116V	GRIK1_uc002ynn.2_Silent_p.V116V|GRIK1_uc011act.1_Silent_p.V60V|GRIK1_uc002yno.1_Silent_p.V116V|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Silent_p.V116V	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	116	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.12766	58.481607	90.240574	30	205	KEEP	---	---	---	---	capture		Silent	SNP	31062244	31062244	7052	21	G	C	C	C	574	45	GRIK1	3	3
KRTAP21-1	337977	broad.mit.edu	37	21	32127642	32127642	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32127642C>G	uc011adi.1	-	c.55G>C	c.(55-57)GGC>CGC	p.G19R		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	19						intermediate filament				breast(1)	1														0.25	131.47407	145.629621	62	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32127642	32127642	8857	21	C	G	G	G	273	21	KRTAP21-1	3	3
KRTAP10-10	353333	broad.mit.edu	37	21	46057642	46057642	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46057642T>C	uc002zfq.2	+	c.308T>C	c.(307-309)GTC>GCC	p.V103A	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	103	6.|15 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.206452	72.075679	84.527964	32	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46057642	46057642	8821	21	T	C	C	C	754	58	KRTAP10-10	4	4
ADARB1	104	broad.mit.edu	37	21	46602546	46602546	+	Silent	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46602546A>G	uc002zgy.2	+	c.1125A>G	c.(1123-1125)ACA>ACG	p.T375T	ADARB1_uc002zgr.2_Silent_p.T375T|ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Silent_p.T375T|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Silent_p.T375T|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	375	A to I editase.				adenosine to inosine editing|base conversion or substitution editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding				0				Colorectal(79;0.115)										0.140625	34.766583	50.718202	18	110	KEEP	---	---	---	---	capture		Silent	SNP	46602546	46602546	283	21	A	G	G	G	54	5	ADARB1	4	4
MYO18B	84700	broad.mit.edu	37	22	26193973	26193973	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26193973G>A	uc003abz.1	+	c.2430G>A	c.(2428-2430)ATG>ATA	p.M810I	MYO18B_uc003aca.1_Missense_Mutation_p.M691I|MYO18B_uc010guy.1_Missense_Mutation_p.M691I|MYO18B_uc010guz.1_Missense_Mutation_p.M691I|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.M323I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	810	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				0.284615	104.430667	109.838512	37	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26193973	26193973	10461	22	G	A	A	A	611	47	MYO18B	2	2
AP1B1	162	broad.mit.edu	37	22	29750760	29750760	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:29750760C>T	uc003afj.2	-	c.817G>A	c.(817-819)GAC>AAC	p.D273N	AP1B1_uc003afi.2_Missense_Mutation_p.D273N|AP1B1_uc003afk.2_Missense_Mutation_p.D273N|AP1B1_uc003afl.2_Missense_Mutation_p.D273N	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	273					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)	1														0.166667	22.954111	30.539887	12	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29750760	29750760	741	22	C	T	T	T	390	30	AP1B1	2	2
POTEF	728378	broad.mit.edu	37	2	130832309	130832309	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130832309G>T	uc010fmh.2	-	c.2736C>A	c.(2734-2736)ATC>ATA	p.I912I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	912	Actin-like.					cell cortex	ATP binding			ovary(2)|skin(1)	3														0.125	12.12221	22.016446	9	63	KEEP	---	---	---	---	capture		Silent	SNP	130832309	130832309	12695	2	G	T	T	T	577	45	POTEF	2	2
LRP1B	53353	broad.mit.edu	37	2	141115623	141115623	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141115623A>T	uc002tvj.1	-	c.11320T>A	c.(11320-11322)TGC>AGC	p.C3774S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3774	Extracellular (Potential).|LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.226463	229.570712	256.580942	89	304	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141115623	141115623	9328	2	A	T	T	T	104	8	LRP1B	3	3
ARHGAP15	55843	broad.mit.edu	37	2	143973998	143973998	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:143973998G>T	uc002tvm.3	+	c.280G>T	c.(280-282)GGA>TGA	p.G94*	ARHGAP15_uc010zbl.1_Nonsense_Mutation_p.G94*	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	94	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)										0.229358	126.194173	140.79634	50	168	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	143973998	143973998	877	2	G	T	T	T	611	47	ARHGAP15	5	2
ITGA6	3655	broad.mit.edu	37	2	173344449	173344449	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:173344449G>A	uc002uhp.1	+	c.1469G>A	c.(1468-1470)GGG>GAG	p.G490E	ITGA6_uc010zdy.1_Missense_Mutation_p.G371E|ITGA6_uc002uho.1_Missense_Mutation_p.G490E|ITGA6_uc010fqm.1_Missense_Mutation_p.G136E	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	529	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of apoptosis	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)											0.043605	-44.818444	31.808151	15	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173344449	173344449	8184	2	G	A	A	A	559	43	ITGA6	2	2
GPR155	151556	broad.mit.edu	37	2	175318530	175318530	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175318530C>A	uc002uit.2	-	c.1811G>T	c.(1810-1812)TGC>TTC	p.C604F	GPR155_uc002uiu.2_Missense_Mutation_p.C604F|GPR155_uc002uiv.2_Missense_Mutation_p.C604F|GPR155_uc010fqs.2_Missense_Mutation_p.C576F	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	604					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1														0.265537	120.485463	129.253385	47	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175318530	175318530	6935	2	C	A	A	A	325	25	GPR155	2	2
ATF2	1386	broad.mit.edu	37	2	175983098	175983098	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175983098C>A	uc002ujl.2	-	c.200_splice	c.e6-1	p.D67_splice	ATF2_uc010fqv.2_Splice_Site_SNP_p.Y18_splice|ATF2_uc002ujv.2_Splice_Site_SNP|ATF2_uc002ujm.2_Splice_Site_SNP_p.D9_splice|ATF2_uc002ujn.2_Splice_Site_SNP|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_Splice_Site_SNP|ATF2_uc002ujq.2_Splice_Site_SNP_p.D67_splice|ATF2_uc002ujr.2_Splice_Site_SNP|ATF2_uc010fqu.2_Splice_Site_SNP_p.D49_splice|ATF2_uc002ujs.2_Splice_Site_SNP_p.D9_splice|ATF2_uc002ujt.2_Splice_Site_SNP|ATF2_uc002uju.2_Splice_Site_SNP|ATF2_uc002ujw.1_Splice_Site_SNP_p.D9_splice|ATF2_uc002ujx.1_Splice_Site_SNP|ATF2_uc002ujy.1_Splice_Site_SNP_p.D67_splice	NM_001880	NP_001871			activating transcription factor 2						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	nucleoplasm	protein dimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.125)			Pancreas(17;87 705 4534 15538 30988)				377				0.191489	35.688644	44.055259	18	76	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	175983098	175983098	1099	2	C	A	A	A	416	32	ATF2	5	2
SMC6	79677	broad.mit.edu	37	2	17927206	17927206	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17927206T>C	uc002rco.2	-	c.8A>G	c.(7-9)AAA>AGA	p.K3R	SMC6_uc010exo.2_Missense_Mutation_p.K3R|SMC6_uc002rcn.2_Missense_Mutation_p.K3R|SMC6_uc002rcp.1_Missense_Mutation_p.K3R|SMC6_uc002rcq.2_Missense_Mutation_p.K3R|SMC6_uc002rcr.1_Missense_Mutation_p.K3R	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	3					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|kidney(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.322581	33.150778	34.011123	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17927206	17927206	15285	2	T	C	C	C	832	64	SMC6	4	4
TTN	7273	broad.mit.edu	37	2	179628998	179628998	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179628998C>T	uc010zfg.1	-	c.10020G>A	c.(10018-10020)ATG>ATA	p.M3340I	TTN_uc010zfh.1_Missense_Mutation_p.M3294I|TTN_uc010zfi.1_Missense_Mutation_p.M3294I|TTN_uc010zfj.1_Missense_Mutation_p.M3294I|TTN_uc002umz.1_Missense_Mutation_p.M1I|TTN_uc002unb.2_Missense_Mutation_p.M3340I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3340										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				0.309735	85.259472	88.918393	35	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179628998	179628998	17290	2	C	T	T	T	325	25	TTN	2	2
HECW2	57520	broad.mit.edu	37	2	197184183	197184183	+	Silent	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197184183A>G	uc002utm.1	-	c.1431T>C	c.(1429-1431)GGT>GGC	p.G477G	HECW2_uc002utl.1_Silent_p.G121G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	477					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														0.25	52.221012	56.307226	18	54	KEEP	---	---	---	---	capture		Silent	SNP	197184183	197184183	7326	2	A	G	G	G	15	2	HECW2	4	4
DES	1674	broad.mit.edu	37	2	220290416	220290416	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220290416C>A	uc002vll.2	+	c.1320C>A	c.(1318-1320)GTC>GTA	p.V440V		NM_001927	NP_001918	P17661	DESM_HUMAN	desmin	440	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)										0.5	9.024633	9.024633	3	3	KEEP	---	---	---	---	capture		Silent	SNP	220290416	220290416	4628	2	C	A	A	A	379	30	DES	2	2
SPEG	10290	broad.mit.edu	37	2	220352942	220352942	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220352942C>T	uc010fwg.2	+	c.7768C>T	c.(7768-7770)CTC>TTC	p.L2590F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2590	Ig-like 9.				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				0.368421	41.339112	41.917796	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220352942	220352942	15548	2	C	T	T	T	260	20	SPEG	2	2
COL4A3	1285	broad.mit.edu	37	2	228137670	228137670	+	Silent	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228137670G>C	uc002vom.1	+	c.1764G>C	c.(1762-1764)CTG>CTC	p.L588L	COL4A3_uc002von.1_Silent_p.L588L|COL4A3_uc002voo.1_Silent_p.L588L|COL4A3_uc002vop.1_Silent_p.L588L	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	588	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)										0.162162	29.350453	37.38179	12	62	KEEP	---	---	---	---	capture		Silent	SNP	228137670	228137670	3829	2	G	C	C	C	574	45	COL4A3	3	3
RBM44	375316	broad.mit.edu	37	2	238726601	238726601	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238726601G>A	uc002vxi.3	+	c.1042G>A	c.(1042-1044)GTT>ATT	p.V348I		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	347							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)										0.296296	58.85919	61.8711	24	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238726601	238726601	13600	2	G	A	A	A	624	48	RBM44	2	2
ANKMY1	51281	broad.mit.edu	37	2	241463553	241463553	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241463553C>A	uc010fzd.1	-	c.1581G>T	c.(1579-1581)GTG>GTT	p.V527V	ANKMY1_uc002vyz.1_Silent_p.V438V|ANKMY1_uc002vza.1_Silent_p.V297V|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Silent_p.V297V|ANKMY1_uc002vzd.1_Silent_p.V297V|ANKMY1_uc010fze.1_Silent_p.V107V|ANKMY1_uc002vze.2_Silent_p.V199V	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	438							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)										0.121951	3.94187	9.691183	5	36	KEEP	---	---	---	---	capture		Silent	SNP	241463553	241463553	637	2	C	A	A	A	366	29	ANKMY1	2	2
ACP1	52	broad.mit.edu	37	2	277250	277250	+	Silent	SNP	G	T	T	rs55709515	by1000genomes	TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:277250G>T	uc002qwg.2	+	c.423G>T	c.(421-423)ACG>ACT	p.T141T	ACP1_uc002qwh.2_Non-coding_Transcript|ACP1_uc002qwf.2_Silent_p.T141T	NM_007099	NP_009030	P24666	PPAC_HUMAN	acid phosphatase 1, soluble isoform b	141						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity				0	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)										0.239437	133.836177	147.028484	51	162	KEEP	---	---	---	---	capture		Silent	SNP	277250	277250	163	2	G	T	T	T	496	39	ACP1	1	1
SRD5A2	6716	broad.mit.edu	37	2	31756524	31756524	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31756524A>G	uc002rnw.1	-	c.464T>C	c.(463-465)TTG>TCG	p.L155S		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	155	Helical; (Potential).				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)									0.280702	48.077132	50.540151	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31756524	31756524	15653	2	A	G	G	G	65	5	SRD5A2	4	4
LTBP1	4052	broad.mit.edu	37	2	33589406	33589406	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33589406G>C	uc002ros.2	+	c.4526G>C	c.(4525-4527)CGA>CCA	p.R1509P	LTBP1_uc002rot.2_Missense_Mutation_p.R1183P|LTBP1_uc002rou.2_Missense_Mutation_p.R1182P|LTBP1_uc002rov.2_Missense_Mutation_p.R1129P|LTBP1_uc010ymz.1_Missense_Mutation_p.R1140P|LTBP1_uc010yna.1_Missense_Mutation_p.R1087P|LTBP1_uc010ynb.1_Missense_Mutation_p.R406P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1508					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.264151	41.536416	44.194805	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33589406	33589406	9449	2	G	C	C	C	481	37	LTBP1	3	3
HEATR5B	54497	broad.mit.edu	37	2	37306407	37306407	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37306407C>T	uc002rpp.1	-	c.194G>A	c.(193-195)GGA>GAA	p.G65E		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	65							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.175	14.125587	18.0913	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37306407	37306407	7315	2	C	T	T	T	390	30	HEATR5B	2	2
MSH2	4436	broad.mit.edu	37	2	47637443	47637443	+	Nonsense_Mutation	SNP	C	T	T	rs63751326		TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47637443C>T	uc002rvz.2	+	c.577C>T	c.(577-579)CAG>TAG	p.Q193*	MSH2_uc010yoh.1_Nonsense_Mutation_p.Q127*|MSH2_uc002rvy.1_Nonsense_Mutation_p.Q193*|MSH2_uc010fbg.2_Nonsense_Mutation_p.Q53*|MSH2_uc010fbf.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	193					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)							715				0.248996	143.605488	157.897944	62	187	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47637443	47637443	10263	2	C	T	T	T	273	21	MSH2	5	2
ETAA1	54465	broad.mit.edu	37	2	67632270	67632270	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:67632270C>A	uc002sdz.1	+	c.2456C>A	c.(2455-2457)TCA>TAA	p.S819*		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	819						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4														0.302632	56.674642	59.331221	23	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	67632270	67632270	5460	2	C	A	A	A	377	29	ETAA1	5	2
DQX1	165545	broad.mit.edu	37	2	74745631	74745631	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74745631G>C	uc010yrw.1	-	c.2096C>G	c.(2095-2097)ACA>AGA	p.T699R	DQX1_uc002smc.2_Missense_Mutation_p.T260R	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	699						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2														0.285714	62.941032	65.784249	20	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74745631	74745631	4935	2	G	C	C	C	624	48	DQX1	3	3
CTNNA2	1496	broad.mit.edu	37	2	80101225	80101225	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80101225G>T	uc010ysh.1	+	c.609G>T	c.(607-609)CGG>CGT	p.R203R	CTNNA2_uc010yse.1_Silent_p.R203R|CTNNA2_uc010ysf.1_Silent_p.R203R|CTNNA2_uc010ysg.1_Silent_p.R203R	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	203					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.2	39.183989	47.528069	20	80	KEEP	---	---	---	---	capture		Silent	SNP	80101225	80101225	4172	2	G	T	T	T	548	43	CTNNA2	2	2
ANKRD36B	57730	broad.mit.edu	37	2	98175299	98175299	+	Silent	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98175299T>A	uc010yvc.1	-	c.930A>T	c.(928-930)ATA>ATT	p.I310I	ANKRD36B_uc010yve.1_Non-coding_Transcript|ANKRD36B_uc010fif.2_Non-coding_Transcript	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	310											0														0.210526	29.268592	33.686757	12	45	KEEP	---	---	---	---	capture		Silent	SNP	98175299	98175299	674	2	T	A	A	A	680	53	ANKRD36B	3	3
RPL24	6152	broad.mit.edu	37	3	101404672	101404672	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101404672T>G	uc003dvh.1	-	c.182A>C	c.(181-183)AAG>ACG	p.K61T	RPL24_uc003dvi.1_Missense_Mutation_p.K61T	NM_000986	NP_000977	P83731	RL24_HUMAN	ribosomal protein L24	61					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0														0.21875	14.103154	16.441084	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101404672	101404672	14051	3	T	G	G	G	728	56	RPL24	4	4
DRD3	1814	broad.mit.edu	37	3	113890711	113890711	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113890711G>A	uc003ebd.2	-	c.129C>T	c.(127-129)ATC>ATT	p.I43I	DRD3_uc010hqn.1_Silent_p.I43I|DRD3_uc003ebb.1_Silent_p.I43I|DRD3_uc003ebc.1_Silent_p.I43I	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	43	Helical; Name=1.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|dopamine metabolic process|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|regulation of dopamine uptake|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)									0.146341	9.222418	14.152449	6	35	KEEP	---	---	---	---	capture		Silent	SNP	113890711	113890711	4942	3	G	A	A	A	473	37	DRD3	1	1
HCLS1	3059	broad.mit.edu	37	3	121363685	121363685	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121363685C>G	uc003eeh.3	-	c.379G>C	c.(379-381)GAG>CAG	p.E127Q	HCLS1_uc011bjj.1_Missense_Mutation_p.E127Q|HCLS1_uc011bjk.1_Non-coding_Transcript|HCLS1_uc011bjl.1_Missense_Mutation_p.E127Q	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	127	Cortactin 2.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|regulation of transcription, DNA-dependent|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)										0.124352	39.86464	66.512274	24	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121363685	121363685	7277	3	C	G	G	G	377	29	HCLS1	3	3
TMEM40	55287	broad.mit.edu	37	3	12791318	12791318	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12791318G>A	uc011auv.1	-	c.62C>T	c.(61-63)GCA>GTA	p.A21V	TMEM40_uc003bxg.1_Missense_Mutation_p.A5V|TMEM40_uc003bxh.1_Missense_Mutation_p.A5V|TMEM40_uc003bxi.1_Missense_Mutation_p.A5V	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	5						integral to membrane					0														0.393617	98.54597	99.479572	37	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12791318	12791318	16702	3	G	A	A	A	598	46	TMEM40	2	2
PIK3R4	30849	broad.mit.edu	37	3	130437287	130437287	+	Silent	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130437287G>C	uc003enj.2	-	c.2073C>G	c.(2071-2073)GTC>GTG	p.V691V		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	691					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|protein phosphorylation	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|kidney(1)|breast(1)|central_nervous_system(1)	6										587				0.1025	45.545233	108.476946	41	359	KEEP	---	---	---	---	capture		Silent	SNP	130437287	130437287	12345	3	G	C	C	C	418	33	PIK3R4	3	3
NUP210	23225	broad.mit.edu	37	3	13360754	13360754	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13360754C>T	uc003bxv.1	-	c.5455G>A	c.(5455-5457)GCT>ACT	p.A1819T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1819	Helical; (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(2)|pancreas(1)|liver(1)	10	all_neural(104;0.187)									587				0.583333	19.521147	19.593047	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13360754	13360754	11165	3	C	T	T	T	338	26	NUP210	2	2
DHX36	170506	broad.mit.edu	37	3	154011603	154011603	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154011603T>C	uc003ezy.3	-	c.1606_splice	c.e14-1	p.V536_splice	DHX36_uc010hvq.2_Splice_Site_SNP_p.V522_splice|DHX36_uc003ezz.3_Splice_Site_SNP_p.V536_splice	NM_020865	NP_065916			DEAH (Asp-Glu-Ala-His) box polypeptide 36							cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.171171	33.653482	45.008189	19	92	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	154011603	154011603	4688	3	T	C	C	C	715	55	DHX36	5	4
SI	6476	broad.mit.edu	37	3	164735649	164735649	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164735649T>G	uc003fei.2	-	c.3533A>C	c.(3532-3534)CAG>CCG	p.Q1178P		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1178	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)									0.112	13.359454	31.955294	14	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164735649	164735649	14792	3	T	G	G	G	715	55	SI	4	4
BCHE	590	broad.mit.edu	37	3	165547813	165547813	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:165547813G>T	uc003fem.3	-	c.1009C>A	c.(1009-1011)CTT>ATT	p.L337I	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	337					acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.205128	37.053298	43.346816	16	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165547813	165547813	1379	3	G	T	T	T	468	36	BCHE	2	2
SLC7A14	57709	broad.mit.edu	37	3	170201305	170201305	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170201305C>T	uc003fgz.2	-	c.913G>A	c.(913-915)GTG>ATG	p.V305M	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	305	Helical; (Potential).					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)									OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.144578	20.353184	30.436757	12	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170201305	170201305	15193	3	C	T	T	T	247	19	SLC7A14	1	1
GHSR	2693	broad.mit.edu	37	3	172166187	172166187	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172166187G>C	uc003fib.1	-	c.17C>G	c.(16-18)CCC>CGC	p.P6R	GHSR_uc011bpv.1_Missense_Mutation_p.P6R	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	6	Extracellular (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			Esophageal Squamous(93;641 1401 20883 29581 34638)								0.315789	14.996274	15.54159	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172166187	172166187	6643	3	G	C	C	C	559	43	GHSR	3	3
CPN2	1370	broad.mit.edu	37	3	194062878	194062878	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194062878G>T	uc003fts.2	-	c.554C>A	c.(553-555)CCG>CAG	p.P185Q		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	185	LRR 4.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)										0.230769	28.672345	32.128475	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	194062878	194062878	3948	3	G	T	T	T	507	39	CPN2	1	1
STAC	6769	broad.mit.edu	37	3	36545950	36545950	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36545950G>T	uc003cgh.1	+	c.831_splice	c.e7+1	p.Q277_splice	STAC_uc010hgd.1_Splice_Site_SNP|STAC_uc011aya.1_Splice_Site_SNP_p.Q216_splice	NM_003149	NP_003140			SH3 and cysteine rich domain						intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			ovary(1)|pancreas(1)	2														0.331731	200.333583	205.537725	69	139	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	36545950	36545950	15757	3	G	T	T	T	572	44	STAC	5	2
SPCS1	28972	broad.mit.edu	37	3	52741778	52741778	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52741778G>C	uc011bei.1	+	c.460G>C	c.(460-462)GAC>CAC	p.D154H	GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog	154	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity				0				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)										0.179487	34.303119	41.840671	14	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52741778	52741778	15533	3	G	C	C	C	481	37	SPCS1	3	3
GRM7	2917	broad.mit.edu	37	3	7456760	7456760	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:7456760G>T	uc003bql.2	+	c.1084G>T	c.(1084-1086)GTA>TTA	p.V362L	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.V362L|GRM7_uc003bqm.2_Missense_Mutation_p.V362L|GRM7_uc003bqn.1_5'UTR	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	362	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.478632	177.107362	177.152693	56	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7456760	7456760	7081	3	G	T	T	T	624	48	GRM7	2	2
PROS1	5627	broad.mit.edu	37	3	93617304	93617304	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:93617304C>A	uc003drb.3	-	c.837G>T	c.(835-837)CAG>CAT	p.Q279H	PROS1_uc010hoo.2_Missense_Mutation_p.Q148H|PROS1_uc003dqz.3_Missense_Mutation_p.Q148H	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	279	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)									0.11	9.248702	24.307241	11	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93617304	93617304	13001	3	C	A	A	A	415	32	PROS1	2	2
C4orf17	84103	broad.mit.edu	37	4	100458828	100458828	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100458828C>A	uc003huw.2	+	c.549C>A	c.(547-549)ATC>ATA	p.I183I	C4orf17_uc003hux.2_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	183											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)										0.055046	-22.074206	23.369911	12	206	KEEP	---	---	---	---	capture		Silent	SNP	100458828	100458828	2347	4	C	A	A	A	382	30	C4orf17	2	2
DNAJB14	79982	broad.mit.edu	37	4	100825031	100825031	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100825031C>A	uc003hvl.2	-	c.867G>T	c.(865-867)ATG>ATT	p.M289I	DNAJB14_uc003hvk.2_Missense_Mutation_p.M204I|DNAJB14_uc010ili.2_Missense_Mutation_p.M222I	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	289					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)										0.306452	51.798312	53.871406	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100825031	100825031	4802	4	C	A	A	A	325	25	DNAJB14	2	2
BBS7	55212	broad.mit.edu	37	4	122780265	122780265	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122780265T>C	uc003ied.2	-	c.410A>G	c.(409-411)GAC>GGC	p.D137G	BBS7_uc003iee.1_Missense_Mutation_p.D137G	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	137					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1														0.238095	170.231366	187.351688	65	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122780265	122780265	1362	4	T	C	C	C	754	58	BBS7	4	4
FAT4	79633	broad.mit.edu	37	4	126384717	126384717	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126384717G>T	uc003ifj.3	+	c.11795_splice	c.e10-1	p.G3932_splice	FAT4_uc011cgp.1_Intron|FAT4_uc003ifi.1_Splice_Site_SNP_p.G1410_splice	NM_024582	NP_078858			FAT tumor suppressor homolog 4 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.333333	16.64426	17.086941	6	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	126384717	126384717	5928	4	G	T	T	T	455	35	FAT4	5	2
PLK4	10733	broad.mit.edu	37	4	128815036	128815036	+	Silent	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128815036T>A	uc003ifo.2	+	c.2562T>A	c.(2560-2562)TCT>TCA	p.S854S	PLK4_uc011cgs.1_Silent_p.S822S|PLK4_uc011cgt.1_Silent_p.S813S	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	854					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|protein phosphorylation|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						Colon(135;508 1718 19061 31832 42879)				258				0.25	49.217392	53.306297	18	54	KEEP	---	---	---	---	capture		Silent	SNP	128815036	128815036	12524	4	T	A	A	A	704	55	PLK4	3	3
MFSD8	256471	broad.mit.edu	37	4	128854198	128854198	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128854198C>G	uc003ifp.2	-	c.805G>C	c.(805-807)GTT>CTT	p.V269L	MFSD8_uc011cgu.1_Missense_Mutation_p.V224L|MFSD8_uc011cgv.1_Missense_Mutation_p.V231L|MFSD8_uc011cgw.1_Non-coding_Transcript|MFSD8_uc011cgx.1_Silent_p.L175L	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	269	Helical; (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2														0.097744	13.771931	35.31752	13	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128854198	128854198	9928	4	C	G	G	G	221	17	MFSD8	3	3
RNF175	285533	broad.mit.edu	37	4	154649432	154649432	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154649432C>G	uc003int.2	-	c.328G>C	c.(328-330)GGG>CGG	p.G110R	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	110	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)												0.140351	32.706513	54.048384	24	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154649432	154649432	13940	4	C	G	G	G	286	22	RNF175	3	3
DCHS2	54798	broad.mit.edu	37	4	155287361	155287361	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155287361C>A	uc003inw.2	-	c.694_splice	c.e5+1	p.G232_splice	DCHS2_uc003inx.2_Splice_Site_SNP_p.G826_splice	NM_017639	NP_060109			dachsous 2 isoform 1						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)										0.076923	0.584352	14.879245	6	72	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	155287361	155287361	4459	4	C	A	A	A	234	18	DCHS2	5	2
HMGB2	3148	broad.mit.edu	37	4	174254255	174254255	+	Silent	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174254255C>G	uc011ckc.1	-	c.261G>C	c.(259-261)GGG>GGC	p.G87G	HMGB2_uc003ita.3_Silent_p.G87G|HMGB2_uc003itb.2_Silent_p.G87G|HMGB2_uc003itc.2_Silent_p.G87G	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	87					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|general transcriptional repressor activity|promoter binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription activator activity				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)										0.291339	228.652165	238.555479	74	180	KEEP	---	---	---	---	capture		Silent	SNP	174254255	174254255	7517	4	C	G	G	G	379	30	HMGB2	3	3
PCDH7	5099	broad.mit.edu	37	4	30726073	30726073	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:30726073A>T	uc011bxx.1	+	c.3029A>T	c.(3028-3030)CAG>CTG	p.Q1010L	PCDH7_uc011bxw.1_Missense_Mutation_p.Q963L|PCDH7_uc003gsk.1_Missense_Mutation_p.Q1010L	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	1010	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.098039	1.936999	10.191757	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30726073	30726073	11936	4	A	T	T	T	91	7	PCDH7	3	3
HTT	3064	broad.mit.edu	37	4	3231757	3231757	+	Silent	SNP	C	T	T	rs2229985	byFrequency	TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3231757C>T	uc011bvq.1	+	c.8259C>T	c.(8257-8259)GCC>GCT	p.A2753A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2751					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			ovary(1)|lung(1)	2		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)										0.285714	27.390632	28.800209	10	25	KEEP	---	---	---	---	capture		Silent	SNP	3231757	3231757	7757	4	C	T	T	T	288	23	HTT	1	1
BEND4	389206	broad.mit.edu	37	4	42145891	42145891	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:42145891T>A	uc003gwn.2	-	c.608A>T	c.(607-609)CAG>CTG	p.Q203L	BEND4_uc003gwm.2_Missense_Mutation_p.Q203L|BEND4_uc011byy.1_Missense_Mutation_p.Q203L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	203											0														0.4	37.700821	37.960881	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42145891	42145891	1423	4	T	A	A	A	715	55	BEND4	3	3
G3BP2	9908	broad.mit.edu	37	4	76582152	76582152	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76582152T>A	uc003hir.2	-	c.398A>T	c.(397-399)TAT>TTT	p.Y133F	G3BP2_uc003his.2_Missense_Mutation_p.Y133F|G3BP2_uc003hit.2_Missense_Mutation_p.Y133F	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	133	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)											0.254545	117.68251	126.694874	42	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76582152	76582152	6393	4	T	A	A	A	637	49	G3BP2	3	3
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79792085G>T	uc003hlk.2	+	c.1380G>T	c.(1378-1380)CAG>CAT	p.Q460H	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.2_Missense_Mutation_p.Q460H|BMP2K_uc003hll.2_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	460	Gln/His-rich.				protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1										318				0.266667	27.976482	30.192259	12	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79792085	79792085	1485	4	G	T	T	T	438	34	BMP2K	2	2
HPSE	10855	broad.mit.edu	37	4	84234281	84234281	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:84234281C>A	uc003hoj.3	-	c.659G>T	c.(658-660)TGG>TTG	p.W220L	HPSE_uc010ika.2_Intron|HPSE_uc011ccq.1_Non-coding_Transcript|HPSE_uc011ccr.1_Non-coding_Transcript|HPSE_uc011ccs.1_Intron|HPSE_uc011cct.1_Missense_Mutation_p.W220L|HPSE_uc003hok.3_Missense_Mutation_p.W220L	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	220					carbohydrate metabolic process|proteoglycan metabolic process	extracellular region|lysosomal membrane	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)									0.203008	60.261132	71.148935	27	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84234281	84234281	7636	4	C	A	A	A	273	21	HPSE	2	2
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618431	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89618431C>T	uc003hrx.2	-	c.475G>A	c.(475-477)GCT>ACT	p.A159T	HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	159	Glu-rich.				nucleosome assembly	nucleus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;0.000181)										0.192308	20.132064	24.721957	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89618431	89618431	10556	4	C	T	T	T	338	26	NAP1L5	2	2
APC	324	broad.mit.edu	37	5	112174894	112174894	+	Silent	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112174894A>G	uc010jby.2	+	c.3603A>G	c.(3601-3603)TCA>TCG	p.S1201S	APC_uc011cvt.1_Silent_p.S1183S|APC_uc003kpz.3_Silent_p.S1201S|APC_uc003kpy.3_Silent_p.S1201S|APC_uc010jbz.2_Silent_p.S918S|APC_uc010jca.2_Silent_p.S501S	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1201	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.310924	213.047331	220.634584	74	164	KEEP	---	---	---	---	capture		Silent	SNP	112174894	112174894	773	5	A	G	G	G	93	8	APC	4	4
MYOT	9499	broad.mit.edu	37	5	137211571	137211571	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137211571C>A	uc011cye.1	+	c.410C>A	c.(409-411)GCA>GAA	p.A137E	MYOT_uc003lbv.2_Missense_Mutation_p.A137E|MYOT_uc011cyg.1_5'UTR|MYOT_uc011cyh.1_Missense_Mutation_p.A22E	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	137	Necessary for interaction with ACTN1.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.042373	-16.311863	10.203631	5	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137211571	137211571	10489	5	C	A	A	A	325	25	MYOT	2	2
PCDHB14	56122	broad.mit.edu	37	5	140604269	140604269	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140604269A>C	uc003ljb.2	+	c.1192A>C	c.(1192-1194)AAG>CAG	p.K398Q	PCDHB14_uc011dal.1_Missense_Mutation_p.K245Q	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	398	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.232759	78.188398	85.756456	27	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140604269	140604269	11959	5	A	C	C	C	65	5	PCDHB14	4	4
PCDHGA5	56110	broad.mit.edu	37	5	140744997	140744997	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140744997C>T	uc003lju.1	+	c.1100C>T	c.(1099-1101)GCG>GTG	p.A367V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.A367V	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	367	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.311111	36.777807	38.184096	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140744997	140744997	11977	5	C	T	T	T	351	27	PCDHGA5	1	1
PCDHGA7	56108	broad.mit.edu	37	5	140762764	140762764	+	Missense_Mutation	SNP	G	A	A	rs115841968	by1000genomes	TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140762764G>A	uc003lka.1	+	c.298G>A	c.(298-300)GCG>ACG	p.A100T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A100T	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.358491	51.210866	52.145127	19	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140762764	140762764	11979	5	G	A	A	A	598	46	PCDHGA7	2	2
PCDHGA7	56108	broad.mit.edu	37	5	140762857	140762857	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140762857C>T	uc003lka.1	+	c.391C>T	c.(391-393)CCA>TCA	p.P131S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.P131S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	131	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.150943	14.16456	20.351828	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140762857	140762857	11979	5	C	T	T	T	390	30	PCDHGA7	2	2
SGCD	6444	broad.mit.edu	37	5	156186284	156186284	+	Silent	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156186284G>C	uc003lwc.3	+	c.756G>C	c.(754-756)ACG>ACC	p.T252T	SGCD_uc003lwd.3_Silent_p.T251T	NM_000337	NP_000328	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 1	251	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.260355	126.642116	135.416186	44	125	KEEP	---	---	---	---	capture		Silent	SNP	156186284	156186284	14692	5	G	C	C	C	483	38	SGCD	3	3
ZNF354A	6940	broad.mit.edu	37	5	178139061	178139061	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178139061C>T	uc003mjj.2	-	c.1818G>A	c.(1816-1818)TAG>TAA	p.*606*		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	606					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)										0.324675	72.846794	74.948081	25	52	KEEP	---	---	---	---	capture		Silent	SNP	178139061	178139061	18456	5	C	T	T	T	415	32	ZNF354A	2	2
GFPT2	9945	broad.mit.edu	37	5	179762830	179762830	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179762830T>A	uc003mlw.1	-	c.338A>T	c.(337-339)AAC>ATC	p.N113I		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	113	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)	1	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)									0.32	21.201202	21.915637	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179762830	179762830	6614	5	T	A	A	A	780	60	GFPT2	3	3
RAI14	26064	broad.mit.edu	37	5	34807958	34807958	+	Silent	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34807958T>C	uc003jis.2	+	c.384T>C	c.(382-384)TAT>TAC	p.Y128Y	RAI14_uc003jir.2_Silent_p.Y125Y|RAI14_uc010iur.2_Silent_p.Y125Y|RAI14_uc011coj.1_Silent_p.Y125Y|RAI14_uc010ius.1_Silent_p.Y54Y|RAI14_uc003jit.2_Silent_p.Y125Y|RAI14_uc011cok.1_Silent_p.Y117Y	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform d	125	ANK 4.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)													0.06383	-43.253234	77.951073	39	572	KEEP	---	---	---	---	capture		Silent	SNP	34807958	34807958	13468	5	T	C	C	C	660	51	RAI14	4	4
SPEF2	79925	broad.mit.edu	37	5	35700805	35700805	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35700805A>T	uc003jjo.2	+	c.2349A>T	c.(2347-2349)TTA>TTT	p.L783F	SPEF2_uc003jjq.3_Missense_Mutation_p.L778F|SPEF2_uc003jjp.1_Missense_Mutation_p.L269F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	783					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)											0.182759	114.50206	141.920891	53	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35700805	35700805	15547	5	A	T	T	T	206	16	SPEF2	3	3
RICTOR	253260	broad.mit.edu	37	5	38945134	38945134	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38945134T>C	uc003jlo.2	-	c.4742A>G	c.(4741-4743)CAG>CGG	p.Q1581R	RICTOR_uc003jlp.2_Missense_Mutation_p.Q1557R|RICTOR_uc010ivf.2_Missense_Mutation_p.Q1234R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1557					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	all_lung(31;0.000396)									698				0.129412	50.664235	96.159779	44	296	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38945134	38945134	13833	5	T	C	C	C	715	55	RICTOR	4	4
AP3B1	8546	broad.mit.edu	37	5	77396792	77396792	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:77396792G>C	uc003kfj.2	-	c.2455C>G	c.(2455-2457)CTA>GTA	p.L819V		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	819					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)										0.5	7.15004	7.15004	2	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77396792	77396792	754	5	G	C	C	C	425	33	AP3B1	3	3
AIM1	202	broad.mit.edu	37	6	106992541	106992541	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:106992541G>A	uc003prh.2	+	c.3911G>A	c.(3910-3912)GGA>GAA	p.G1304E	AIM1_uc003pri.2_Missense_Mutation_p.G108E	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1304	Beta/gamma crystallin 'Greek key' 6.						sugar binding			breast(4)|ovary(2)|large_intestine(1)	7	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)						659				0.039648	-35.424369	16.38231	9	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106992541	106992541	433	6	G	A	A	A	533	41	AIM1	2	2
SYCP2L	221711	broad.mit.edu	37	6	10956459	10956459	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:10956459G>T	uc003mzo.2	+	c.2147G>T	c.(2146-2148)CGG>CTG	p.R716L	SYCP2L_uc010jow.2_Missense_Mutation_p.R336L	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	716						nucleus				ovary(1)	1	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)											0.246575	45.723956	49.985433	18	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10956459	10956459	15954	6	G	T	T	T	507	39	SYCP2L	1	1
FIG4	9896	broad.mit.edu	37	6	110146373	110146373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110146373C>T	uc003ptt.2	+	c.2629C>T	c.(2629-2631)CAA>TAA	p.Q877*	FIG4_uc011eau.1_Nonsense_Mutation_p.Q571*	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	877					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)										0.218638	132.713973	153.092938	61	218	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110146373	110146373	6126	6	C	T	T	T	273	21	FIG4	5	2
C6orf170	221322	broad.mit.edu	37	6	121563386	121563386	+	Silent	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121563386A>G	uc003pyo.1	-	c.2118T>C	c.(2116-2118)TGT>TGC	p.C706C	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_Silent_p.C225C	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	706					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)										0.209581	81.536076	94.571823	35	132	KEEP	---	---	---	---	capture		Silent	SNP	121563386	121563386	2449	6	A	G	G	G	76	6	C6orf170	4	4
TRDN	10345	broad.mit.edu	37	6	123542652	123542652	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123542652A>G	uc003pzj.1	-	c.2030T>C	c.(2029-2031)GTG>GCG	p.V677A	TRDN_uc010kem.1_Missense_Mutation_p.V178A	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	677	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)										0.259259	19.413876	20.830284	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123542652	123542652	17012	6	A	G	G	G	78	6	TRDN	4	4
ADAT2	134637	broad.mit.edu	37	6	143754990	143754990	+	Silent	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:143754990A>G	uc003qjj.2	-	c.330T>C	c.(328-330)TGT>TGC	p.C110C	ADAT2_uc003qjk.1_Non-coding_Transcript	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN	deaminase domain containing 1	110		Zinc; catalytic.			tRNA processing		hydrolase activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)										0.123596	11.5793	23.902627	11	78	KEEP	---	---	---	---	capture		Silent	SNP	143754990	143754990	286	6	A	G	G	G	76	6	ADAT2	4	4
C6orf97	80129	broad.mit.edu	37	6	151907107	151907107	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151907107G>T	uc003qol.2	+	c.1176G>T	c.(1174-1176)CAG>CAT	p.Q392H		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	392	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)						349				0.277778	38.102799	40.501671	15	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151907107	151907107	2481	6	G	T	T	T	425	33	C6orf97	2	2
SYNE1	23345	broad.mit.edu	37	6	152651646	152651646	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152651646C>T	uc010kiw.2	-	c.14174G>A	c.(14173-14175)GGC>GAC	p.G4725D	SYNE1_uc003qot.3_Missense_Mutation_p.G4654D|SYNE1_uc003qou.3_Missense_Mutation_p.G4725D|SYNE1_uc010kiz.2_Missense_Mutation_p.G480D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4725	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)										0.660287	407.993878	412.688598	138	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152651646	152651646	15966	6	C	T	T	T	338	26	SYNE1	2	2
FNDC1	84624	broad.mit.edu	37	6	159653380	159653380	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159653380G>T	uc010kjv.2	+	c.1836G>T	c.(1834-1836)GCG>GCT	p.A612A	FNDC1_uc010kjw.1_Silent_p.A497A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	612						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)										0.157895	4.318032	6.435838	3	16	KEEP	---	---	---	---	capture		Silent	SNP	159653380	159653380	6210	6	G	T	T	T	483	38	FNDC1	1	1
RPS6KA2	6196	broad.mit.edu	37	6	166833431	166833431	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:166833431C>A	uc003qvd.1	-	c.1834G>T	c.(1834-1836)GGC>TGC	p.G612C	RPS6KA2_uc011ego.1_Missense_Mutation_p.G498C|RPS6KA2_uc010kkl.1_Missense_Mutation_p.G498C|RPS6KA2_uc003qvb.1_Missense_Mutation_p.G587C|RPS6KA2_uc003qvc.1_Missense_Mutation_p.G595C|RPS6KA2_uc010kkk.1_Missense_Mutation_p.G19C	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	587	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)						997				0.125	6.84873	12.342698	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166833431	166833431	14131	6	C	A	A	A	312	24	RPS6KA2	2	2
KIF13A	63971	broad.mit.edu	37	6	17800239	17800239	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:17800239C>G	uc003ncg.3	-	c.2560G>C	c.(2560-2562)GAA>CAA	p.E854Q	KIF13A_uc003ncf.2_Missense_Mutation_p.E854Q|KIF13A_uc003nch.3_Missense_Mutation_p.E854Q|KIF13A_uc003nci.3_Missense_Mutation_p.E854Q	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	854					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)											0.246795	213.421115	231.635797	77	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17800239	17800239	8585	6	C	G	G	G	377	29	KIF13A	3	3
SLC17A2	10246	broad.mit.edu	37	6	25914897	25914897	+	Silent	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25914897A>G	uc003nfl.2	-	c.1065T>C	c.(1063-1065)GAT>GAC	p.D355D	SLC17A2_uc011dkb.1_Missense_Mutation_p.Y405H|SLC17A2_uc011dkc.1_Silent_p.D355D	NM_005835	NP_005826	O00624	NPT3_HUMAN	solute carrier family 17 (sodium phosphate),	355	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1														0.365385	62.120591	62.945416	19	33	KEEP	---	---	---	---	capture		Silent	SNP	25914897	25914897	14913	6	A	G	G	G	206	16	SLC17A2	4	4
HIST1H2AL	8332	broad.mit.edu	37	6	27833191	27833191	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27833191C>T	uc003njw.2	+	c.59C>T	c.(58-60)TCT>TTT	p.S20F		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	20					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0														0.087209	5.94175	35.561505	15	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27833191	27833191	7423	6	C	T	T	T	416	32	HIST1H2AL	2	2
CYP21A2	1589	broad.mit.edu	37	6	32007878	32007878	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32007878G>T	uc003nze.1	+	c.835G>T	c.(835-837)GAA>TAA	p.E279*	CYP21A2_uc003nzf.1_Nonsense_Mutation_p.E249*	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	278					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						Melanoma(174;1669 1998 3915 34700 46447)								0.144509	36.468922	57.507767	25	148	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32007878	32007878	4318	6	G	T	T	T	533	41	CYP21A2	5	2
BRPF3	27154	broad.mit.edu	37	6	36168792	36168792	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36168792C>T	uc003olv.3	+	c.693C>T	c.(691-693)TTC>TTT	p.F231F	BRPF3_uc010jwb.2_Silent_p.F231F|BRPF3_uc011dtj.1_Non-coding_Transcript|BRPF3_uc010jwc.2_Non-coding_Transcript|BRPF3_uc011dtk.1_Silent_p.F231F	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	231	PHD-type.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)	1														0.139535	30.663043	46.85342	18	111	KEEP	---	---	---	---	capture		Silent	SNP	36168792	36168792	1552	6	C	T	T	T	415	32	BRPF3	2	2
DNAH8	1769	broad.mit.edu	37	6	38905910	38905910	+	Silent	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38905910C>G	uc003ooe.1	+	c.11073C>G	c.(11071-11073)CTC>CTG	p.L3691L	DNAH8_uc003oog.1_Silent_p.L140L	NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	3691					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.263804	130.863316	139.077107	43	120	KEEP	---	---	---	---	capture		Silent	SNP	38905910	38905910	4790	6	C	G	G	G	405	32	DNAH8	3	3
CDC5L	988	broad.mit.edu	37	6	44387332	44387332	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44387332C>T	uc003oxl.2	+	c.1239C>T	c.(1237-1239)TTC>TTT	p.F413F		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	413	Interaction with PPP1R8.				cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)	5	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)							515				0.038585	-50.993329	20.625941	12	299	KEEP	---	---	---	---	capture		Silent	SNP	44387332	44387332	3211	6	C	T	T	T	376	29	CDC5L	2	2
PKHD1	5314	broad.mit.edu	37	6	51890773	51890773	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51890773C>T	uc003pah.1	-	c.3835G>A	c.(3835-3837)GCC>ACC	p.A1279T	PKHD1_uc003pai.2_Missense_Mutation_p.A1279T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1279	Extracellular (Potential).|IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.130769	22.211499	39.432826	17	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51890773	51890773	12396	6	C	T	T	T	351	27	PKHD1	1	1
IL17A	3605	broad.mit.edu	37	6	52053998	52053998	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52053998C>A	uc003pak.1	+	c.376C>A	c.(376-378)CCT>ACT	p.P126T		NM_002190	NP_002181	Q16552	IL17_HUMAN	interleukin 17A precursor	126					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity				0	Lung NSC(77;0.116)													0.254902	82.466274	90.809884	39	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52053998	52053998	7935	6	C	A	A	A	338	26	IL17A	2	2
F13A1	2162	broad.mit.edu	37	6	6175086	6175086	+	Silent	SNP	T	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6175086T>G	uc003mwv.2	-	c.1474A>C	c.(1474-1476)AGA>CGA	p.R492R	F13A1_uc011dib.1_Silent_p.R429R	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	492					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.181818	38.156423	46.517936	16	72	KEEP	---	---	---	---	capture		Silent	SNP	6175086	6175086	5534	6	T	G	G	G	700	54	F13A1	4	4
EYS	346007	broad.mit.edu	37	6	66200586	66200586	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:66200586C>G	uc011dxu.1	-	c.763G>C	c.(763-765)GAA>CAA	p.E255Q	EYS_uc003peq.2_Missense_Mutation_p.E255Q|EYS_uc003per.1_Missense_Mutation_p.E255Q|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	255					response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1														0.21327	111.523209	127.594401	45	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66200586	66200586	5526	6	C	G	G	G	416	32	EYS	3	3
BAI3	577	broad.mit.edu	37	6	70071037	70071037	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70071037G>T	uc003pev.3	+	c.3872G>T	c.(3871-3873)GGG>GTG	p.G1291V	BAI3_uc010kak.2_Missense_Mutation_p.G1291V|BAI3_uc011dxx.1_Missense_Mutation_p.G497V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1291	Cytoplasmic (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				0.174603	59.255535	78.159375	33	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70071037	70071037	1321	6	G	T	T	T	559	43	BAI3	2	2
RIMS1	22999	broad.mit.edu	37	6	73110293	73110294	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:73110293_73110294GA>AT	uc003pga.2	+	c.4956_4957GA>AT	c.(4954-4959)GTGATC>GTATTC	p.I1653F	RIMS1_uc011dyb.1_Missense_Mutation_p.I1050F|RIMS1_uc003pgc.2_Missense_Mutation_p.I1068F|RIMS1_uc010kaq.2_Missense_Mutation_p.I973F|RIMS1_uc011dyc.1_Missense_Mutation_p.I778F|RIMS1_uc010kar.2_Missense_Mutation_p.I721F|RIMS1_uc011dyd.1_Missense_Mutation_p.I787F|RIMS1_uc003pgf.2_Missense_Mutation_p.I653F|RIMS1_uc003pgg.2_Missense_Mutation_p.I549F|RIMS1_uc003pgi.2_Missense_Mutation_p.I469F|RIMS1_uc003pgh.2_Missense_Mutation_p.I520F|RIMS1_uc003pgd.2_Missense_Mutation_p.I719F|RIMS1_uc003pge.2_Missense_Mutation_p.I693F|RIMS1_uc011dye.1_Missense_Mutation_p.I459F|RIMS1_uc011dyf.1_Missense_Mutation_p.I277F|RIMS1_uc011dyg.1_Missense_Mutation_p.I180F	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1653					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.236301	152.602029	171.190285	69	223	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	73110293	73110294	13844	6	GA	AT	AT	AT	574	45	RIMS1	2	2
ZNF292	23036	broad.mit.edu	37	6	87969715	87969715	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87969715C>T	uc003plm.3	+	c.6368C>T	c.(6367-6369)GCT>GTT	p.A2123V		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2123	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)										0.042553	-19.841955	11.705641	6	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87969715	87969715	18418	6	C	T	T	T	364	28	ZNF292	2	2
MDN1	23195	broad.mit.edu	37	6	90394621	90394621	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90394621G>A	uc003pnn.1	-	c.11803C>T	c.(11803-11805)CGT>TGT	p.R3935C		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3935					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.083333	2.298976	21.34635	9	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90394621	90394621	9804	6	G	A	A	A	481	37	MDN1	1	1
SERPINE1	5054	broad.mit.edu	37	7	100773739	100773740	+	Nonsense_Mutation	DNP	GG	CT	CT			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100773739_100773740GG>CT	uc003uxt.2	+	c.309_310GG>CT	c.(307-312)AAGGAG>AACTAG	p.103_104KE>N*	SERPINE1_uc011kkj.1_Nonsense_Mutation_p.88_89KE>N*|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	103_104					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)									0.277259	252.784247	267.039812	89	232	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	100773739	100773740	14599	7	GG	CT	CT	CT	451	35	SERPINE1	5	3
PHF14	9678	broad.mit.edu	37	7	11022706	11022706	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11022706A>T	uc003srz.2	+	c.820A>T	c.(820-822)AAA>TAA	p.K274*	PHF14_uc003sry.1_Nonsense_Mutation_p.K274*|PHF14_uc011jxi.1_Intron|PHF14_uc011jxj.1_Intron	NM_001007157	NP_001007158	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 1	274							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)										0.25	31.753296	34.705876	13	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11022706	11022706	12248	7	A	T	T	T	169	13	PHF14	5	3
ST7	7982	broad.mit.edu	37	7	116830964	116830964	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116830964G>T	uc003vin.2	+	c.1228G>T	c.(1228-1230)GTG>TTG	p.V410L	ST7_uc011knl.1_Missense_Mutation_p.V387L|ST7_uc003vio.2_Missense_Mutation_p.V387L|ST7_uc003viq.2_Missense_Mutation_p.V364L|ST7_uc011knm.1_Missense_Mutation_p.V367L|ST7_uc003vir.2_Missense_Mutation_p.V335L|ST7_uc011knn.1_Missense_Mutation_p.V358L|ST7_uc003vix.1_Missense_Mutation_p.V223L|ST7OT3_uc003viy.1_Non-coding_Transcript	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	410						integral to membrane	binding			central_nervous_system(1)	1	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)										0.246479	91.14422	99.466522	35	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116830964	116830964	15747	7	G	T	T	T	624	48	ST7	2	2
CADPS2	93664	broad.mit.edu	37	7	122303304	122303304	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122303304T>C	uc010lkp.2	-	c.773A>G	c.(772-774)TAT>TGT	p.Y258C	CADPS2_uc010lkq.2_Missense_Mutation_p.Y258C	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	258					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.231884	42.866604	47.408397	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122303304	122303304	2687	7	T	C	C	C	637	49	CADPS2	4	4
CCDC136	64753	broad.mit.edu	37	7	128444758	128444758	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128444758C>T	uc003vnv.1	+	c.725C>T	c.(724-726)GCC>GTC	p.A242V	CCDC136_uc003vnu.1_Missense_Mutation_p.A280V|CCDC136_uc003vnw.1_Missense_Mutation_p.A242V|CCDC136_uc003vnx.1_Missense_Mutation_p.A58V|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	242	Glu-rich.					integral to membrane	protein binding			ovary(2)	2														0.444444	11.660544	11.673072	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128444758	128444758	2890	7	C	T	T	T	338	26	CCDC136	2	2
PRSS1	5644	broad.mit.edu	37	7	142459838	142459838	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142459838G>A	uc003wak.2	+	c.414G>A	c.(412-414)AAG>AAA	p.K138K	TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.K78K	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	138	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)											0.173516	75.708797	97.676102	38	181	KEEP	---	---	---	---	capture		Silent	SNP	142459838	142459838	13064	7	G	A	A	A	464	36	PRSS1	2	2
GIMAP5	55340	broad.mit.edu	37	7	150439759	150439759	+	Silent	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150439759C>A	uc003whr.1	+	c.532C>A	c.(532-534)CGG>AGG	p.R178R	GIMAP5_uc010lpu.2_Silent_p.R36R	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	178	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.230583	241.45383	268.836083	95	317	KEEP	---	---	---	---	capture		Silent	SNP	150439759	150439759	6650	7	C	A	A	A	347	27	GIMAP5	1	1
KCNH2	3757	broad.mit.edu	37	7	150646032	150646032	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150646032C>A	uc003wic.2	-	c.2504G>T	c.(2503-2505)CGG>CTG	p.R835L	KCNH2_uc003wib.2_Missense_Mutation_p.R495L|KCNH2_uc011kux.1_Missense_Mutation_p.R739L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	835	Cytoplasmic (Potential).|cNMP.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			ovary(1)|skin(1)	2	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GBM(137;110 1844 13671 20123 45161)			p.R495Q(SNU1040-Tumor)	314				0.266667	53.156922	56.855352	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150646032	150646032	8337	7	C	A	A	A	299	23	KCNH2	1	1
NPY	4852	broad.mit.edu	37	7	24329140	24329140	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:24329140G>A	uc003sww.1	+	c.211G>A	c.(211-213)GAG>AAG	p.E71K		NM_000905	NP_000896	P01303	NPY_HUMAN	neuropeptide Y precursor	71					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity				0														0.053763	-15.402154	23.658946	10	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24329140	24329140	11012	7	G	A	A	A	429	33	NPY	2	2
CCT6A	908	broad.mit.edu	37	7	56129515	56129515	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:56129515C>G	uc003trl.1	+	c.1423C>G	c.(1423-1425)CAG>GAG	p.Q475E	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.Q430E|CCT6A_uc011kcu.1_Missense_Mutation_p.Q444E|SUMF2_uc003tro.2_5'Flank|SUMF2_uc011kcv.1_5'Flank|SUMF2_uc011kcw.1_5'Flank|SUMF2_uc011kcx.1_5'Flank|SUMF2_uc003trv.2_5'Flank|SUMF2_uc003trt.2_5'Flank|SUMF2_uc011kcy.1_5'Flank|SUMF2_uc011kcz.1_5'Flank|SUMF2_uc003tru.2_5'Flank|SUMF2_uc011kda.1_5'Flank|SUMF2_uc003trx.2_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	475					'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)											0.233333	21.109051	23.06183	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56129515	56129515	3084	7	C	G	G	G	377	29	CCT6A	3	3
ABHD11	83451	broad.mit.edu	37	7	73150996	73150996	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73150996G>T	uc003tzb.2	-	c.841C>A	c.(841-843)CGG>AGG	p.R281R	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.R224R|ABHD11_uc003tzc.2_Silent_p.R274R|ABHD11_uc003tza.2_Silent_p.R168R	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	281							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)												0.090909	2.544996	11.813019	5	50	KEEP	---	---	---	---	capture		Silent	SNP	73150996	73150996	76	7	G	T	T	T	493	38	ABHD11	1	1
HIP1	3092	broad.mit.edu	37	7	75186030	75186030	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75186030A>G	uc003uds.1	-	c.1667T>C	c.(1666-1668)CTG>CCG	p.L556P	HIP1_uc011kfz.1_Missense_Mutation_p.L433P	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	556	Potential.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			pancreas(2)|ovary(1)|central_nervous_system(1)	4										1179				0.173333	22.326211	29.888012	13	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75186030	75186030	7399	7	A	G	G	G	91	7	HIP1	4	4
SEMA3D	223117	broad.mit.edu	37	7	84651816	84651816	+	Silent	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84651816T>A	uc003uic.2	-	c.1305A>T	c.(1303-1305)GCA>GCT	p.A435A	SEMA3D_uc010led.2_Silent_p.A435A|SEMA3D_uc003uib.2_Silent_p.A74A	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	435	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.234818	301.722777	333.530451	116	378	KEEP	---	---	---	---	capture		Silent	SNP	84651816	84651816	14513	7	T	A	A	A	704	55	SEMA3D	3	3
TRRAP	8295	broad.mit.edu	37	7	98606135	98606135	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98606135A>G	uc003upp.2	+	c.10847A>G	c.(10846-10848)TAT>TGT	p.Y3616C	TRRAP_uc011kis.1_Missense_Mutation_p.Y3587C|TRRAP_uc003upr.2_Missense_Mutation_p.Y3322C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3616	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)							1847				0.306452	53.475705	55.56373	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98606135	98606135	17152	7	A	G	G	G	208	16	TRRAP	4	4
ARPC1B	10095	broad.mit.edu	37	7	98985774	98985774	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98985774G>A	uc003upz.2	+	c.282G>A	c.(280-282)CGG>CGA	p.R94R	ARPC1A_uc011kit.1_Non-coding_Transcript|ARPC1B_uc003uqa.2_Silent_p.R94R|ARPC1B_uc003uqb.2_Silent_p.R94R|ARPC1B_uc003uqc.2_Silent_p.R94R|ARPC1B_uc003uqd.2_5'Flank	NM_005720	NP_005711	O15143	ARC1B_HUMAN	actin related protein 2/3 complex subunit 1B	94	WD 3.				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)											0.076923	-0.742691	8.787519	4	48	KEEP	---	---	---	---	capture		Silent	SNP	98985774	98985774	988	7	G	A	A	A	522	41	ARPC1B	2	2
RGS22	26166	broad.mit.edu	37	8	101076251	101076251	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101076251C>A	uc003yjb.1	-	c.745G>T	c.(745-747)GGA>TGA	p.G249*	RGS22_uc003yja.1_Nonsense_Mutation_p.G68*|RGS22_uc003yjc.1_Nonsense_Mutation_p.G237*|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	249					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)							790				0.167472	203.913267	269.148396	104	517	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101076251	101076251	13779	8	C	A	A	A	273	21	RGS22	5	2
CSMD3	114788	broad.mit.edu	37	8	114186083	114186083	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:114186083T>A	uc003ynu.2	-	c.577A>T	c.(577-579)AGA>TGA	p.R193*	CSMD3_uc003ynt.2_Nonsense_Mutation_p.R153*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.R193*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.R193*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	193	Extracellular (Potential).|Sushi 1.					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)			0.238462	142.439343	158.672548	62	198	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	114186083	114186083	4087	8	T	A	A	A	726	56	CSMD3	5	3
COL14A1	7373	broad.mit.edu	37	8	121220565	121220565	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121220565C>A	uc003yox.2	+	c.1286C>A	c.(1285-1287)ACT>AAT	p.T429N	COL14A1_uc003yoy.2_Missense_Mutation_p.T107N|COL14A1_uc010mde.1_Missense_Mutation_p.T107N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	429	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.218487	64.228853	72.890215	26	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121220565	121220565	3809	8	C	A	A	A	260	20	COL14A1	2	2
FER1L6	654463	broad.mit.edu	37	8	125131084	125131084	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125131084G>A	uc003yqw.2	+	c.5290_splice	c.e40-1	p.G1764_splice		NM_001039112	NP_001034201			fer-1-like 6							integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.191781	32.814628	39.287092	14	59	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	125131084	125131084	6052	8	G	A	A	A	455	35	FER1L6	5	2
FAM135B	51059	broad.mit.edu	37	8	139163568	139163568	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139163568C>A	uc003yuy.2	-	c.3150G>T	c.(3148-3150)GAG>GAT	p.E1050D	FAM135B_uc003yux.2_Missense_Mutation_p.E951D|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Missense_Mutation_p.E612D|FAM135B_uc003yvb.2_Missense_Mutation_p.E612D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1050										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)											0.239669	61.650391	69.118754	29	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139163568	139163568	5646	8	C	A	A	A	415	32	FAM135B	2	2
ZNF16	7564	broad.mit.edu	37	8	146156799	146156799	+	Silent	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:146156799T>C	uc003zet.2	-	c.1374A>G	c.(1372-1374)GAA>GAG	p.E458E	ZNF16_uc003zeu.2_Silent_p.E458E	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)										0.042802	-31.496253	26.129591	11	246	KEEP	---	---	---	---	capture		Silent	SNP	146156799	146156799	18329	8	T	C	C	C	829	64	ZNF16	4	4
BMP1	649	broad.mit.edu	37	8	22034084	22034084	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22034084T>G	uc003xbg.2	+	c.472T>G	c.(472-474)TGG>GGG	p.W158G	BMP1_uc011kzb.1_Non-coding_Transcript|BMP1_uc003xba.2_Missense_Mutation_p.W158G|BMP1_uc003xbb.2_Missense_Mutation_p.W158G|BMP1_uc003xbe.2_Non-coding_Transcript|BMP1_uc003xbc.2_5'UTR|BMP1_uc003xbd.2_Non-coding_Transcript|BMP1_uc003xbf.2_5'UTR|BMP1_uc011kzc.1_5'UTR|BMP1_uc003xbh.2_Non-coding_Transcript|BMP1_uc003xbi.2_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	158	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)										0.444444	45.496513	45.592937	16	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22034084	22034084	1481	8	T	G	G	G	715	55	BMP1	4	4
KCNU1	157855	broad.mit.edu	37	8	36671860	36671860	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36671860C>T	uc010lvw.2	+	c.868C>T	c.(868-870)CGG>TGG	p.R290W	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	290	Extracellular (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.081633	-0.33594	8.399832	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36671860	36671860	8398	8	C	T	T	T	243	19	KCNU1	1	1
RAB11FIP1	80223	broad.mit.edu	37	8	37732063	37732063	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37732063C>T	uc003xkm.1	-	c.1592G>A	c.(1591-1593)AGG>AAG	p.R531K	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.R379K|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.R531K|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.R379K	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	531					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)	1		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)											0.287462	269.160409	282.382067	94	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37732063	37732063	13352	8	C	T	T	T	312	24	RAB11FIP1	2	2
ST18	9705	broad.mit.edu	37	8	53030991	53030991	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53030991A>T	uc003xqz.2	-	c.2766T>A	c.(2764-2766)AGT>AGA	p.S922R	ST18_uc011ldq.1_Missense_Mutation_p.S569R|ST18_uc011ldr.1_Missense_Mutation_p.S887R|ST18_uc011lds.1_Missense_Mutation_p.S827R|ST18_uc003xra.2_Missense_Mutation_p.S922R	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	922	Potential.					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)												0.168	39.508965	52.553446	21	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53030991	53030991	15730	8	A	T	T	T	76	6	ST18	3	3
OPRK1	4986	broad.mit.edu	37	8	54142126	54142126	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:54142126T>C	uc003xrh.1	-	c.874A>G	c.(874-876)ATA>GTA	p.I292V	OPRK1_uc003xri.1_Missense_Mutation_p.I292V|OPRK1_uc010lyc.1_Missense_Mutation_p.I203V	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	292	Helical; Name=6; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)	1		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)									0.225	41.207794	46.769889	18	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54142126	54142126	11291	8	T	C	C	C	663	51	OPRK1	4	4
MRPL15	29088	broad.mit.edu	37	8	55055223	55055223	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55055223G>T	uc003xsa.2	+	c.430G>T	c.(430-432)GGT>TGT	p.G144C		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor	144					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)											0.323529	57.128616	59.007382	22	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55055223	55055223	10173	8	G	T	T	T	559	43	MRPL15	2	2
CYP7A1	1581	broad.mit.edu	37	8	59404999	59404999	+	Silent	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59404999G>A	uc003xtm.3	-	c.1128C>T	c.(1126-1128)GAC>GAT	p.D376D		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	376					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|oxidation-reduction process|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)												0.041667	-31.694388	17.063603	9	207	KEEP	---	---	---	---	capture		Silent	SNP	59404999	59404999	4361	8	G	A	A	A	516	40	CYP7A1	1	1
CHD7	55636	broad.mit.edu	37	8	61774815	61774815	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61774815C>T	uc003xue.2	+	c.7891C>T	c.(7891-7893)CGA>TGA	p.R2631*		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2631					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)											0.14	9.691097	15.951042	7	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61774815	61774815	3464	8	C	T	T	T	399	31	CHD7	5	1
FABP12	646486	broad.mit.edu	37	8	82441718	82441719	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82441718_82441719CA>AG	uc011lfp.1	-	c.200_201TG>CT	c.(199-201)CTG>CCT	p.L67P	FABP12_uc003ycg.3_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	67							lipid binding|transporter activity				0														0.177419	115.024131	145.423764	55	255	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	82441718	82441719	5553	8	CA	AG	AG	AG	262	21	FABP12	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88885129	88885129	+	Silent	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88885129G>C	uc003ydz.2	-	c.1071C>G	c.(1069-1071)CCC>CCG	p.P357P		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	357										ovary(1)	1														0.284091	58.603245	62.316603	25	63	KEEP	---	---	---	---	capture		Silent	SNP	88885129	88885129	4443	8	G	C	C	C	496	39	DCAF4L2	3	3
CDH17	1015	broad.mit.edu	37	8	95164221	95164221	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95164221C>T	uc003ygh.2	-	c.1671G>A	c.(1669-1671)GTG>GTA	p.V557V	CDH17_uc011lgo.1_Silent_p.V343V|CDH17_uc011lgp.1_Silent_p.V557V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	557	Extracellular (Potential).|Cadherin 5.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.043478	-36.60808	19.930536	11	242	KEEP	---	---	---	---	capture		Silent	SNP	95164221	95164221	3231	8	C	T	T	T	366	29	CDH17	2	2
CDH17	1015	broad.mit.edu	37	8	95164334	95164334	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95164334C>T	uc003ygh.2	-	c.1558G>A	c.(1558-1560)GAT>AAT	p.D520N	CDH17_uc011lgo.1_Missense_Mutation_p.D306N|CDH17_uc011lgp.1_Missense_Mutation_p.D520N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	520	Extracellular (Potential).|Cadherin 5.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.059908	-19.815699	24.164702	13	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95164334	95164334	3231	8	C	T	T	T	377	29	CDH17	2	2
MATN2	4147	broad.mit.edu	37	8	99019788	99019788	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99019788C>G	uc003yic.2	+	c.1532C>G	c.(1531-1533)CCT>CGT	p.P511R	MATN2_uc010mbh.1_Missense_Mutation_p.P470R|MATN2_uc003yid.2_Missense_Mutation_p.P511R|MATN2_uc003yie.1_Missense_Mutation_p.P511R|MATN2_uc010mbi.1_Missense_Mutation_p.P344R|MATN2_uc010mbj.1_Missense_Mutation_p.P10R	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	511	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)											0.216783	72.444762	83.027197	31	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99019788	99019788	9718	8	C	G	G	G	312	24	MATN2	3	3
SVEP1	79987	broad.mit.edu	37	9	113149665	113149665	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113149665G>T	uc010mtz.2	-	c.9960C>A	c.(9958-9960)AAC>AAA	p.N3320K	SVEP1_uc010mty.2_Missense_Mutation_p.N1246K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3320	Sushi 32.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.169014	26.257302	33.619019	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113149665	113149665	15940	9	G	T	T	T	516	40	SVEP1	1	1
TNC	3371	broad.mit.edu	37	9	117848842	117848842	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117848842C>A	uc004bjj.3	-	c.1168G>T	c.(1168-1170)GGG>TGG	p.G390W	TNC_uc010mvf.2_Missense_Mutation_p.G390W	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	390	EGF-like 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.262295	42.143489	45.216867	16	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117848842	117848842	16811	9	C	A	A	A	299	23	TNC	1	1
TAF1L	138474	broad.mit.edu	37	9	32633772	32633772	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32633772G>T	uc003zrg.1	-	c.1806C>A	c.(1804-1806)ACC>ACA	p.T602T		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	602					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				0.140969	93.380544	149.885403	64	390	KEEP	---	---	---	---	capture		Silent	SNP	32633772	32633772	16044	9	G	T	T	T	444	35	TAF1L	2	2
NPR2	4882	broad.mit.edu	37	9	35793020	35793020	+	Silent	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35793020A>G	uc003zyd.2	+	c.615A>G	c.(613-615)CGA>CGG	p.R205R	NPR2_uc010mlb.2_Silent_p.R205R	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	205	Extracellular (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				0.1	0.225434	6.784502	4	36	KEEP	---	---	---	---	capture		Silent	SNP	35793020	35793020	11000	9	A	G	G	G	132	11	NPR2	4	4
ZBTB5	9925	broad.mit.edu	37	9	37442130	37442130	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37442130A>G	uc003zzx.2	-	c.419T>C	c.(418-420)ATG>ACG	p.M140T		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)										0.115207	25.925221	57.869251	25	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37442130	37442130	18138	9	A	G	G	G	104	8	ZBTB5	4	4
RANBP6	26953	broad.mit.edu	37	9	6015441	6015441	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6015441G>T	uc003zjr.2	-	c.167C>A	c.(166-168)GCC>GAC	p.A56D	RANBP6_uc011lmf.1_Missense_Mutation_p.A56D|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	56					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)										0.408451	83.668486	84.186129	29	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6015441	6015441	13491	9	G	T	T	T	546	42	RANBP6	2	2
FAM199X	139231	broad.mit.edu	37	X	103411551	103411551	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:103411551G>C	uc004elw.2	+	c.85G>C	c.(85-87)GGG>CGG	p.G29R		NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	29										ovary(1)	1														0.478261	36.125478	36.134792	11	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103411551	103411551	5744	23	G	C	C	C	507	39	FAM199X	3	3
GRIA3	2892	broad.mit.edu	37	X	122528862	122528862	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:122528862C>A	uc004etq.3	+	c.794C>A	c.(793-795)GCC>GAC	p.A265D	GRIA3_uc004etr.3_Missense_Mutation_p.A265D|GRIA3_uc004ets.3_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.A249D	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	265	Extracellular (Potential).				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				0.414474	172.633551	173.616942	63	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122528862	122528862	7047	23	C	A	A	A	338	26	GRIA3	2	2
STAG2	10735	broad.mit.edu	37	X	123229240	123229240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123229240C>T	uc004eua.2	+	c.3724C>T	c.(3724-3726)CGA>TGA	p.R1242*	STAG2_uc004etz.3_Nonsense_Mutation_p.R1205*|STAG2_uc004eub.2_Nonsense_Mutation_p.R1205*|STAG2_uc004euc.2_Nonsense_Mutation_p.R1242*|STAG2_uc004eud.2_Nonsense_Mutation_p.R1205*|STAG2_uc004eue.2_Nonsense_Mutation_p.R1205*	NM_001042749	NP_001036214	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform a	1205					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5														0.165354	38.793152	52.297495	21	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123229240	123229240	15761	23	C	T	T	T	243	19	STAG2	5	1
ODZ1	10178	broad.mit.edu	37	X	123514910	123514910	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123514910C>T	uc010nqy.2	-	c.7675G>A	c.(7675-7677)GCC>ACC	p.A2559T	ODZ1_uc011muj.1_Missense_Mutation_p.A2558T|ODZ1_uc004euj.2_Missense_Mutation_p.A2552T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	2552	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				0.51875	226.282594	226.329782	83	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123514910	123514910	11239	23	C	T	T	T	325	25	ODZ1	2	2
SAGE1	55511	broad.mit.edu	37	X	134990674	134990674	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134990674G>T	uc004ezh.2	+	c.1339G>T	c.(1339-1341)GAA>TAA	p.E447*	SAGE1_uc010nry.1_Nonsense_Mutation_p.E416*|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	447										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.440559	174.19747	174.638508	63	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134990674	134990674	14289	23	G	T	T	T	533	41	SAGE1	5	2
MAP7D3	79649	broad.mit.edu	37	X	135314286	135314286	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135314286G>A	uc004ezt.2	-	c.830C>T	c.(829-831)TCG>TTG	p.S277L	MAP7D3_uc004ezs.2_Missense_Mutation_p.S241L|MAP7D3_uc011mwc.1_Missense_Mutation_p.S259L|MAP7D3_uc010nsa.1_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	277						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)													0.163265	57.114285	78.358794	32	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135314286	135314286	9652	23	G	A	A	A	481	37	MAP7D3	1	1
MAP3K15	389840	broad.mit.edu	37	X	19389463	19389463	+	Silent	SNP	G	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:19389463G>T	uc004czk.1	-	c.1719C>A	c.(1717-1719)GCC>GCA	p.A573A	MAP3K15_uc004czj.1_Silent_p.A533A|MAP3K15_uc004czi.1_Silent_p.A32A	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	1098					protein phosphorylation		ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|skin(1)	6	Hepatocellular(33;0.183)													0.676471	158.372894	160.257827	46	22	KEEP	---	---	---	---	capture		Silent	SNP	19389463	19389463	9632	23	G	T	T	T	496	39	MAP3K15	1	1
MAGEB4	4115	broad.mit.edu	37	X	30260839	30260839	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30260839C>A	uc004dcb.2	+	c.587C>A	c.(586-588)CCA>CAA	p.P196Q	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	196	MAGE.									ovary(1)	1														0.634615	106.583802	107.411301	33	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30260839	30260839	9559	23	C	A	A	A	273	21	MAGEB4	2	2
DMD	1756	broad.mit.edu	37	X	32583858	32583858	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32583858C>G	uc004dda.1	-	c.1953G>C	c.(1951-1953)TGG>TGC	p.W651C	DMD_uc004dcz.2_Missense_Mutation_p.W528C|DMD_uc004dcy.1_Missense_Mutation_p.W647C|DMD_uc004ddb.1_Missense_Mutation_p.W643C|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.W643C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	651	Spectrin 3.				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)												0.5	143.960545	143.960545	51	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32583858	32583858	4760	23	C	G	G	G	286	22	DMD	3	3
SYTL5	94122	broad.mit.edu	37	X	37985860	37985860	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37985860C>A	uc004ddx.2	+	c.2136C>A	c.(2134-2136)AAC>AAA	p.N712K	SYTL5_uc004ddu.2_Missense_Mutation_p.N690K|SYTL5_uc004ddv.2_Missense_Mutation_p.N690K	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 2	690					intracellular protein transport	membrane	Rab GTPase binding|zinc ion binding				0														0.535211	126.098913	126.182037	38	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37985860	37985860	16007	23	C	A	A	A	246	19	SYTL5	1	1
ZC4H2	55906	broad.mit.edu	37	X	64141711	64141711	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:64141711C>A	uc004dvu.2	-	c.211G>T	c.(211-213)GCT>TCT	p.A71S	ZC4H2_uc004dvv.2_Missense_Mutation_p.A48S|ZC4H2_uc011mov.1_Missense_Mutation_p.A48S|ZC4H2_uc011mow.1_Missense_Mutation_p.A71S|ZC4H2_uc004dvw.1_Missense_Mutation_p.A71S	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	71	Potential.						metal ion binding|protein binding			ovary(1)	1														0.463415	59.617872	59.665815	19	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64141711	64141711	18166	23	C	A	A	A	351	27	ZC4H2	1	1
PHKA1	5255	broad.mit.edu	37	X	71838619	71838619	+	Silent	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71838619C>T	uc004eax.3	-	c.2310G>A	c.(2308-2310)TTG>TTA	p.L770L	PHKA1_uc004eay.3_Silent_p.L770L|PHKA1_uc011mqi.1_Silent_p.L711L	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	770					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)	3	Renal(35;0.156)													0.244898	261.367503	287.525029	108	333	KEEP	---	---	---	---	capture		Silent	SNP	71838619	71838619	12267	23	C	T	T	T	376	29	PHKA1	2	2
P2RY10	27334	broad.mit.edu	37	X	78216046	78216046	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78216046C>A	uc004ede.2	+	c.29C>A	c.(28-30)ACA>AAA	p.T10K	P2RY10_uc004edf.2_Missense_Mutation_p.T10K	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	10	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)	3														0.432653	336.618423	337.585933	106	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78216046	78216046	11760	23	C	A	A	A	221	17	P2RY10	2	2
ITM2A	9452	broad.mit.edu	37	X	78618510	78618510	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78618510C>T	uc004edh.2	-	c.370G>A	c.(370-372)GCA>ACA	p.A124T	ITM2A_uc011mqr.1_Missense_Mutation_p.A80T	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	124						integral to membrane	protein binding			lung(2)	2														0.464646	133.37783	133.480596	46	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78618510	78618510	8216	23	C	T	T	T	325	25	ITM2A	2	2
POU3F4	5456	broad.mit.edu	37	X	82763625	82763625	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:82763625C>A	uc004eeg.2	+	c.293C>A	c.(292-294)TCG>TAG	p.S98*		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	98					regulation of transcription, DNA-dependent|sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.371429	35.462262	35.971889	13	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82763625	82763625	12707	23	C	A	A	A	403	31	POU3F4	5	1
DACH2	117154	broad.mit.edu	37	X	86071078	86071078	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86071078C>A	uc004eew.2	+	c.1726C>A	c.(1726-1728)CCT>ACT	p.P576T	DACH2_uc004eex.2_Missense_Mutation_p.P563T|DACH2_uc010nmq.2_Missense_Mutation_p.P442T|DACH2_uc011mra.1_Missense_Mutation_p.P409T|DACH2_uc010nmr.2_Missense_Mutation_p.P357T|DACH2_uc004eey.2_Missense_Mutation_p.P269T|DACH2_uc004eez.2_Missense_Mutation_p.P259T	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5														0.428571	118.525825	118.963474	42	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86071078	86071078	4387	23	C	A	A	A	390	30	DACH2	2	2
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	TGGGTCC	TGGGTCC			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79058183_79058184insTGGGTCC	uc002bej.3	-	c.4069_4070insGGACCCA	c.(4069-4071)AAGfs	p.K1357fs	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1357					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	79058183	79058184	272	15	-	TGGGTCC	TGGGTCC	TGGGTCC	728	56	ADAMTS7	5	5
SPRED3	399473	broad.mit.edu	37	19	38885396	38885397	+	Frame_Shift_Ins	INS	-	C	C	rs77844291	byFrequency;by1000genomes	TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38885396_38885397insC	uc002oim.2	+	c.537_538insC	c.(535-540)ACGCCCfs	p.T179fs		NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	179_180					multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)											0.40			4	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	38885396	38885397	15607	19	-	C	C	C	483	38	SPRED3	5	5
EPPK1	83481	broad.mit.edu	37	8	144940619	144940620	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z053-01	TCGA-17-Z053-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144940619_144940620insC	uc003zaa.1	-	c.14812_14813insG	c.(14812-14814)GCCfs	p.A4938fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4938	Plectin 62.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	144940619	144940620	5383	8	-	C	C	C	546	42	EPPK1	5	5
