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
CCDC147	159686	broad.mit.edu	37	10	106121900	106121900	+	Silent	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106121900G>C	uc001kyh.2	+	c.411G>C	c.(409-411)GGG>GGC	p.G137G		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	137	Potential.									ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)										0.125	19.301131	30.283649	10	70	KEEP	---	---	---	---	capture		Silent	SNP	106121900	106121900	2901	10	G	C	C	C	561	44	CCDC147	3	3
RAB11FIP2	22841	broad.mit.edu	37	10	119805526	119805526	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119805526G>A	uc009xyz.1	-	c.149C>T	c.(148-150)TCT>TTT	p.S50F	RAB11FIP2_uc001ldj.1_Missense_Mutation_p.S50F|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	50	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)										0.107692	19.920441	49.698813	21	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119805526	119805526	13353	10	G	A	A	A	429	33	RAB11FIP2	2	2
TUBGCP2	10844	broad.mit.edu	37	10	135101728	135101728	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135101728C>A	uc010qvc.1	-	c.1711G>T	c.(1711-1713)GTG>TTG	p.V571L	TUBGCP2_uc001lmf.1_Missense_Mutation_p.V136L|TUBGCP2_uc001lmg.1_Missense_Mutation_p.V543L|TUBGCP2_uc009ybk.1_Missense_Mutation_p.V543L|TUBGCP2_uc010qvd.1_Missense_Mutation_p.V413L|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	543					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	cytoplasmic microtubule|cytosol|microtubule organizing center|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)										0.094118	2.732916	16.810311	8	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135101728	135101728	17321	10	C	A	A	A	234	18	TUBGCP2	2	2
CACNB2	783	broad.mit.edu	37	10	18825107	18825107	+	Silent	SNP	A	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18825107A>G	uc001ipr.2	+	c.1284A>G	c.(1282-1284)AAA>AAG	p.K428K	CACNB2_uc009xjz.1_Silent_p.K178K|CACNB2_uc001ips.2_Silent_p.K404K|CACNB2_uc001ipt.2_Silent_p.K390K|CACNB2_uc001ipu.2_Silent_p.K400K|CACNB2_uc001ipv.2_Silent_p.K376K|CACNB2_uc009xka.1_Silent_p.K362K|CACNB2_uc001ipw.2_Silent_p.K335K|CACNB2_uc001ipx.2_Silent_p.K373K|CACNB2_uc001ipz.2_Silent_p.K350K|CACNB2_uc001ipy.2_Silent_p.K374K|CACNB2_uc010qco.1_Silent_p.K342K|CACNB2_uc001iqa.2_Silent_p.K380K|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	428					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				0.269504	106.492871	113.250102	38	103	KEEP	---	---	---	---	capture		Silent	SNP	18825107	18825107	2669	10	A	G	G	G	24	2	CACNB2	4	4
PIP4K2A	5305	broad.mit.edu	37	10	22898559	22898559	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22898559G>C	uc001irl.3	-	c.232C>G	c.(232-234)CTT>GTT	p.L78V		NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	78	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2										213				0.31677	150.270853	155.076183	51	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22898559	22898559	12360	10	G	C	C	C	455	35	PIP4K2A	3	3
OGDHL	55753	broad.mit.edu	37	10	50953850	50953850	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50953850C>A	uc009xog.2	-	c.1551G>T	c.(1549-1551)GTG>GTT	p.V517V	OGDHL_uc001jie.2_Silent_p.V490V|OGDHL_uc010qgt.1_Silent_p.V433V|OGDHL_uc010qgu.1_Silent_p.V281V|OGDHL_uc009xoh.2_Silent_p.V281V	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	490					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.235294	17.281735	19.461938	8	26	KEEP	---	---	---	---	capture		Silent	SNP	50953850	50953850	11245	10	C	A	A	A	262	21	OGDHL	2	2
RHOBTB1	9886	broad.mit.edu	37	10	62648417	62648417	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:62648417G>A	uc001jli.2	-	c.1009C>T	c.(1009-1011)CCG>TCG	p.P337S	RHOBTB1_uc001jlh.2_Missense_Mutation_p.P337S|RHOBTB1_uc001jlj.2_Missense_Mutation_p.P337S|RHOBTB1_uc001jlk.2_Missense_Mutation_p.P337S|RHOBTB1_uc009xpe.1_Missense_Mutation_p.P275S|RHOBTB1_uc001jll.2_Missense_Mutation_p.P87S	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	337	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding				0	Prostate(12;0.0112)													0.206009	111.062964	129.66847	48	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62648417	62648417	13808	10	G	A	A	A	559	43	RHOBTB1	2	2
ITIH5	80760	broad.mit.edu	37	10	7611659	7611659	+	Silent	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7611659G>T	uc001ijq.2	-	c.2121C>A	c.(2119-2121)CTC>CTA	p.L707L	ITIH5_uc001ijp.2_Silent_p.L493L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	707					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.146341	10.223693	15.151909	6	35	KEEP	---	---	---	---	capture		Silent	SNP	7611659	7611659	8211	10	G	T	T	T	574	45	ITIH5	2	2
ITIH2	3698	broad.mit.edu	37	10	7755153	7755153	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7755153C>A	uc001ijs.2	+	c.372C>A	c.(370-372)GAC>GAA	p.D124E		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	124	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.060606	-3.752131	9.557714	4	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7755153	7755153	8208	10	C	A	A	A	246	19	ITIH2	1	1
ITIH2	3698	broad.mit.edu	37	10	7755155	7755155	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7755155G>C	uc001ijs.2	+	c.374G>C	c.(373-375)GGC>GCC	p.G125A		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	125	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.060606	-3.355638	9.95705	4	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7755155	7755155	8208	10	G	C	C	C	546	42	ITIH2	3	3
LRIT2	340745	broad.mit.edu	37	10	85982019	85982019	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85982019C>A	uc010qmc.1	-	c.1340G>T	c.(1339-1341)GGC>GTC	p.G447V	LRIT2_uc001kcy.2_Missense_Mutation_p.G437V	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	437	Fibronectin type-III.					integral to membrane				ovary(2)	2														0.210084	48.249215	57.422354	25	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85982019	85982019	9321	10	C	A	A	A	338	26	LRIT2	2	2
FAM35A	54537	broad.mit.edu	37	10	88939887	88939887	+	Silent	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88939887T>C	uc001kei.3	+	c.2019T>C	c.(2017-2019)TCT>TCC	p.S673S	FAM35A_uc001kej.3_Silent_p.S119S	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	673										ovary(2)	2						Ovarian(175;703 2004 25460 32514 43441)								0.034965	-47.209319	20.161571	10	276	KEEP	---	---	---	---	capture		Silent	SNP	88939887	88939887	5773	10	T	C	C	C	691	54	FAM35A	4	4
APOA4	337	broad.mit.edu	37	11	116691952	116691952	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:116691952C>A	uc001pps.1	-	c.822G>T	c.(820-822)GTG>GTT	p.V274V		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)										0.431818	53.006163	53.186064	19	25	KEEP	---	---	---	---	capture		Silent	SNP	116691952	116691952	794	11	C	A	A	A	314	25	APOA4	2	2
MUC5B	727897	broad.mit.edu	37	11	1267038	1267038	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1267038C>A	uc009ycr.1	+	c.10677C>A	c.(10675-10677)GCC>GCA	p.A3559A	MUC5B_uc001ltb.2_Silent_p.A2979A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2976	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.352941	15.851915	16.172833	6	11	KEEP	---	---	---	---	capture		Silent	SNP	1267038	1267038	10373	11	C	A	A	A	262	21	MUC5B	2	2
IGF2	3481	broad.mit.edu	37	11	2156601	2156601	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:2156601G>T	uc009ydf.2	-	c.321C>A	c.(319-321)TAC>TAA	p.Y107*	IGF2_uc001lvf.2_5'Flank|IGF2_uc009yde.2_Nonsense_Mutation_p.Y51*|IGF2_uc001lvg.2_Nonsense_Mutation_p.Y51*|IGF2_uc001lvh.2_Nonsense_Mutation_p.Y51*|INS-IGF2_uc001lvi.2_Non-coding_Transcript|MIR483_hsa-mir-483|MI0002467_5'Flank|INS-IGF2_uc001lvj.1_Non-coding_Transcript	NM_001127598	NP_001121070	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 2	51	B.				glucose metabolic process|insulin receptor signaling pathway|ossification|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of gene-specific transcription|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)										0.666667	6.951288	7.024703	2	1	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2156601	2156601	7873	11	G	T	T	T	464	36	IGF2	5	2
OR52R1	119695	broad.mit.edu	37	11	4824914	4824914	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4824914A>T	uc010qym.1	-	c.934T>A	c.(934-936)TCA>ACA	p.S312T		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.370787	94.854325	96.158584	33	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4824914	4824914	11541	11	A	T	T	T	143	11	OR52R1	3	3
CTNND1	1500	broad.mit.edu	37	11	57575697	57575697	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57575697G>C	uc001nmc.3	+	c.2024G>C	c.(2023-2025)AGC>ACC	p.S675T	CTNND1_uc001nlh.1_Missense_Mutation_p.S675T|CTNND1_uc001nlu.3_Missense_Mutation_p.S568T|CTNND1_uc001nlt.3_Missense_Mutation_p.S568T|CTNND1_uc001nls.3_Missense_Mutation_p.S568T|CTNND1_uc001nlw.3_Missense_Mutation_p.S568T|CTNND1_uc001nmf.3_Missense_Mutation_p.S675T|CTNND1_uc001nmd.3_Missense_Mutation_p.S621T|CTNND1_uc001nlk.3_Missense_Mutation_p.S621T|CTNND1_uc001nme.3_Missense_Mutation_p.S669T|CTNND1_uc001nll.3_Missense_Mutation_p.S615T|CTNND1_uc001nmg.3_Missense_Mutation_p.S615T|CTNND1_uc001nlj.3_Missense_Mutation_p.S615T|CTNND1_uc001nlr.3_Missense_Mutation_p.S615T|CTNND1_uc001nlp.3_Missense_Mutation_p.S615T|CTNND1_uc001nlx.3_Missense_Mutation_p.S352T|CTNND1_uc001nlz.3_Missense_Mutation_p.S352T|CTNND1_uc009ymn.2_Missense_Mutation_p.S346T|CTNND1_uc001nlm.3_Missense_Mutation_p.S669T|CTNND1_uc001nly.3_Missense_Mutation_p.S346T|CTNND1_uc001nmb.3_Missense_Mutation_p.S346T|CTNND1_uc001nma.3_Missense_Mutation_p.S346T|CTNND1_uc001nmi.3_Missense_Mutation_p.S574T|CTNND1_uc001nmh.3_Missense_Mutation_p.S669T|CTNND1_uc001nlq.3_Missense_Mutation_p.S574T|CTNND1_uc001nln.3_Missense_Mutation_p.S669T|CTNND1_uc001nli.3_Missense_Mutation_p.S669T|CTNND1_uc001nlo.3_Missense_Mutation_p.S568T|CTNND1_uc001nlv.3_Missense_Mutation_p.S568T	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	675	ARM 7.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)												0.336283	107.141087	109.808255	38	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57575697	57575697	4178	11	G	C	C	C	442	34	CTNND1	3	3
MPEG1	219972	broad.mit.edu	37	11	58979598	58979598	+	Silent	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58979598G>C	uc001nnu.3	-	c.741C>G	c.(739-741)ACC>ACG	p.T247T		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	247	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)	1		all_epithelial(135;0.125)												0.241935	38.297792	42.061513	15	47	KEEP	---	---	---	---	capture		Silent	SNP	58979598	58979598	10115	11	G	C	C	C	496	39	MPEG1	3	3
SYT12	91683	broad.mit.edu	37	11	66807603	66807603	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66807603G>T	uc009yrl.2	+	c.550G>T	c.(550-552)GAG>TAG	p.E184*	SYT12_uc001oju.2_Nonsense_Mutation_p.E184*	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	184	C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						Ovarian(65;2862 3307)								0.214286	6.117369	7.172964	3	11	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	66807603	66807603	15989	11	G	T	T	T	533	41	SYT12	5	2
SHANK2	22941	broad.mit.edu	37	11	70505983	70505983	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70505983C>A	uc001oqc.2	-	c.2011G>T	c.(2011-2013)GGT>TGT	p.G671C	SHANK2_uc010rqn.1_Missense_Mutation_p.G83C|SHANK2_uc001opz.2_Missense_Mutation_p.G83C|SHANK2_uc010rqp.1_Missense_Mutation_p.G83C	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	292	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)											0.069767	-1.401541	6.80888	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70505983	70505983	14757	11	C	A	A	A	312	24	SHANK2	2	2
P4HA3	283208	broad.mit.edu	37	11	74000151	74000151	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74000151T>A	uc001ouz.2	-	c.742A>T	c.(742-744)AGC>TGC	p.S248C	P4HA3_uc001ouy.3_Non-coding_Transcript|P4HA3_uc010rrj.1_Missense_Mutation_p.S248C	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	248	TPR.				oxidation-reduction process	endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity				0	Breast(11;2.31e-05)													0.3	16.240786	16.956523	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74000151	74000151	11771	11	T	A	A	A	715	55	P4HA3	3	3
DNAH10	196385	broad.mit.edu	37	12	124341758	124341758	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124341758C>A	uc001uft.3	+	c.6240C>A	c.(6238-6240)GTC>GTA	p.V2080V		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2080	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)										0.3	26.904805	28.323604	12	28	KEEP	---	---	---	---	capture		Silent	SNP	124341758	124341758	4780	12	C	A	A	A	379	30	DNAH10	2	2
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>T	uc001rgp.1	-	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.528302	86.401486	86.438401	28	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	T	T	T	234	18	KRAS	2	2
NCKAP5L	57701	broad.mit.edu	37	12	50186578	50186578	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50186578G>A	uc009zlk.2	-	c.3532C>T	c.(3532-3534)CGG>TGG	p.R1178W	NCKAP5L_uc001rvc.3_Missense_Mutation_p.R382W|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R771W	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1174	Pro-rich.										0														0.217391	9.886686	11.568414	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50186578	50186578	10623	12	G	A	A	A	493	38	NCKAP5L	1	1
LRIG3	121227	broad.mit.edu	37	12	59277358	59277358	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:59277358G>A	uc001sqr.2	-	c.1260C>T	c.(1258-1260)AAC>AAT	p.N420N	LRIG3_uc009zqh.2_Silent_p.N360N|LRIG3_uc010ssh.1_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	420	LRR 15.					integral to membrane				ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.17e-18)											0.27439	115.72929	123.23363	45	119	KEEP	---	---	---	---	capture		Silent	SNP	59277358	59277358	9319	12	G	A	A	A	516	40	LRIG3	1	1
USP15	9958	broad.mit.edu	37	12	62795017	62795017	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:62795017G>T	uc001src.1	+	c.2725G>T	c.(2725-2727)GAC>TAC	p.D909Y	USP15_uc001srb.1_Missense_Mutation_p.D880Y	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	909					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		Melanoma(181;615 2041 39364 49691 50001)								0.260274	49.488988	53.288762	19	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62795017	62795017	17608	12	G	T	T	T	585	45	USP15	2	2
HELB	92797	broad.mit.edu	37	12	66698690	66698690	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:66698690C>T	uc001sti.2	+	c.367C>T	c.(367-369)CAA>TAA	p.Q123*	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	123					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)										0.062937	-10.05108	18.415571	9	134	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	66698690	66698690	7328	12	C	T	T	T	377	29	HELB	5	2
AHNAK2	113146	broad.mit.edu	37	14	105406157	105406157	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105406157C>A	uc010axc.1	-	c.15631G>T	c.(15631-15633)GGA>TGA	p.G5211*	AHNAK2_uc001ypx.2_Nonsense_Mutation_p.G5111*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5211						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.090909	1.968007	9.389785	4	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	105406157	105406157	418	14	C	A	A	A	273	21	AHNAK2	5	2
KHNYN	23351	broad.mit.edu	37	14	24901122	24901122	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24901122G>T	uc010tpc.1	+	c.778G>T	c.(778-780)GCT>TCT	p.A260S	KHNYN_uc001wph.3_Missense_Mutation_p.A219S|KHNYN_uc010alw.2_Missense_Mutation_p.A219S|CBLN3_uc001wpg.3_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351	219										ovary(2)|liver(1)	3												OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.275591	90.48387	96.173772	35	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24901122	24901122	8456	14	G	T	T	T	598	46	KHNYN	2	2
FOXA1	3169	broad.mit.edu	37	14	38061776	38061776	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:38061776C>A	uc001wuf.2	-	c.213G>T	c.(211-213)CCG>CCT	p.P71P	FOXA1_uc010tpz.1_Silent_p.P38P	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	71					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)										0.440476	110.204847	110.469606	37	47	KEEP	---	---	---	---	capture		Silent	SNP	38061776	38061776	6231	14	C	A	A	A	288	23	FOXA1	1	1
JKAMP	51528	broad.mit.edu	37	14	59965536	59965536	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59965536G>T	uc001xei.3	+	c.592G>T	c.(592-594)GGG>TGG	p.G198W	JKAMP_uc001xef.3_Missense_Mutation_p.G184W|JKAMP_uc001xeh.3_Missense_Mutation_p.G178W|JKAMP_uc001xeg.3_Missense_Mutation_p.G192W|JKAMP_uc010try.1_Missense_Mutation_p.G121W|JKAMP_uc001xej.3_Missense_Mutation_p.G121W	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	199	Cytoplasmic (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1														0.390625	73.057344	73.728972	25	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59965536	59965536	8253	14	G	T	T	T	455	35	JKAMP	2	2
KCNH5	27133	broad.mit.edu	37	14	63417001	63417001	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63417001C>A	uc001xfx.2	-	c.1219G>T	c.(1219-1221)GGG>TGG	p.G407W	KCNH5_uc001xfy.2_Missense_Mutation_p.G407W|KCNH5_uc001xfz.1_Missense_Mutation_p.G349W|KCNH5_uc001xga.2_Missense_Mutation_p.G349W	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	407	Extracellular (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)										0.291096	226.843804	238.272084	85	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63417001	63417001	8340	14	C	A	A	A	273	21	KCNH5	2	2
SYNE2	23224	broad.mit.edu	37	14	64428310	64428310	+	Silent	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64428310C>T	uc001xgl.2	+	c.855C>T	c.(853-855)TCC>TCT	p.S285S	SYNE2_uc001xgm.2_Silent_p.S285S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	285	CH 2.|Cytoplasmic (Potential).|Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.327586	54.303133	55.833197	19	39	KEEP	---	---	---	---	capture		Silent	SNP	64428310	64428310	15967	14	C	T	T	T	262	21	SYNE2	2	2
APBA2	321	broad.mit.edu	37	15	29390776	29390776	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:29390776G>A	uc001zck.2	+	c.1335G>A	c.(1333-1335)ACG>ACA	p.T445T	APBA2_uc010azj.2_Silent_p.T433T|APBA2_uc010uat.1_Silent_p.T433T|APBA2_uc001zcl.2_Silent_p.T433T|APBA2_uc001zcm.1_Silent_p.T137T	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	445	PID.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)										0.2	9.660649	11.754023	5	20	KEEP	---	---	---	---	capture		Silent	SNP	29390776	29390776	767	15	G	A	A	A	483	38	APBA2	1	1
C15orf55	256646	broad.mit.edu	37	15	34640188	34640188	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34640188C>A	uc010ucc.1	+	c.119C>A	c.(118-120)CCG>CAG	p.P40Q	C15orf55_uc010ucd.1_Missense_Mutation_p.P30Q|C15orf55_uc001zif.2_Missense_Mutation_p.P12Q	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	12	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.333333	98.52815	101.031411	34	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34640188	34640188	1853	15	C	A	A	A	299	23	C15orf55	1	1
CKMT1A	548596	broad.mit.edu	37	15	43990846	43990846	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43990846G>A	uc010uea.1	+	c.1112G>A	c.(1111-1113)CGC>CAC	p.R371H	CKMT1A_uc001zsn.2_Missense_Mutation_p.R340H|CKMT1A_uc001zso.3_Missense_Mutation_p.R340H	NM_020990	NP_066270	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B precursor	340	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)									0.4	130.962357	131.95553	46	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43990846	43990846	3585	15	G	A	A	A	494	38	CKMT1A	1	1
ADAMTS7	11173	broad.mit.edu	37	15	79051803	79051803	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79051803C>A	uc002bej.3	-	c.5021G>T	c.(5020-5022)GGC>GTC	p.G1674V		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1674					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.666667	6.45256	6.524665	2	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79051803	79051803	272	15	C	A	A	A	338	26	ADAMTS7	2	2
SNX29	92017	broad.mit.edu	37	16	12662399	12662399	+	Silent	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:12662399G>C	uc002dby.3	+	c.1200G>C	c.(1198-1200)CGG>CGC	p.R400R		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	400					cell communication		phosphatidylinositol binding			ovary(1)	1														0.163265	15.372949	20.653168	8	41	KEEP	---	---	---	---	capture		Silent	SNP	12662399	12662399	15398	16	G	C	C	C	535	42	SNX29	3	3
DNAH3	55567	broad.mit.edu	37	16	20996463	20996463	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20996463G>A	uc010vbe.1	-	c.7601C>T	c.(7600-7602)GCC>GTC	p.A2534V	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2534	AAA 4 (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)										0.432836	86.364808	86.628255	29	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20996463	20996463	4786	16	G	A	A	A	546	42	DNAH3	2	2
EEF2K	29904	broad.mit.edu	37	16	22269910	22269910	+	Silent	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22269910C>T	uc002dki.2	+	c.1125C>T	c.(1123-1125)CCC>CCT	p.P375P	EEF2K_uc002dkh.2_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	375					insulin receptor signaling pathway|protein phosphorylation|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		NSCLC(195;1411 2157 20319 27471 51856)				274				0.176471	30.603979	38.965866	15	70	KEEP	---	---	---	---	capture		Silent	SNP	22269910	22269910	5117	16	C	T	T	T	275	22	EEF2K	2	2
GTF3C1	2975	broad.mit.edu	37	16	27476787	27476787	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27476787C>A	uc002dov.1	-	c.5149G>T	c.(5149-5151)GAA>TAA	p.E1717*	GTF3C1_uc002dou.2_Nonsense_Mutation_p.E1717*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1717					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|breast(1)|pancreas(1)	4														0.202899	25.822565	31.478782	14	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27476787	27476787	7152	16	C	A	A	A	390	30	GTF3C1	5	2
GPR114	221188	broad.mit.edu	37	16	57597789	57597789	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57597789C>A	uc002elx.3	+	c.327C>A	c.(325-327)CAC>CAA	p.H109Q	GPR114_uc010vhr.1_Missense_Mutation_p.H109Q|GPR114_uc002ely.2_Missense_Mutation_p.H109Q	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	109	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1														0.217391	21.434138	24.816916	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57597789	57597789	6905	16	C	A	A	A	246	19	GPR114	1	1
GPR56	9289	broad.mit.edu	37	16	57697431	57697431	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57697431G>T	uc002emb.2	+	c.2019G>T	c.(2017-2019)AAG>AAT	p.K673N	GPR56_uc002ema.1_Missense_Mutation_p.K498N|GPR56_uc002emc.2_Missense_Mutation_p.K667N|GPR56_uc002emf.2_Missense_Mutation_p.K667N|GPR56_uc010vhs.1_Missense_Mutation_p.K673N|GPR56_uc002emd.2_Missense_Mutation_p.K667N|GPR56_uc002eme.2_Missense_Mutation_p.K667N|GPR56_uc010vht.1_Missense_Mutation_p.K672N|GPR56_uc002emg.3_Missense_Mutation_p.K667N|GPR56_uc010vhu.1_Missense_Mutation_p.K492N	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	673	Cytoplasmic (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0														0.109589	5.941515	16.967658	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57697431	57697431	6975	16	G	T	T	T	425	33	GPR56	2	2
DHX38	9785	broad.mit.edu	37	16	72137651	72137651	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72137651A>T	uc002fcb.2	+	c.1788A>T	c.(1786-1788)AGA>AGT	p.R596S	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	596	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0		Ovarian(137;0.125)				Melanoma(97;711 1442 7855 13832 28836)								0.16129	9.666929	13.041098	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72137651	72137651	4690	16	A	T	T	T	141	11	DHX38	3	3
PKD1L2	114780	broad.mit.edu	37	16	81222569	81222569	+	Missense_Mutation	SNP	G	T	T	rs28534622		TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81222569G>T	uc002fgh.1	-	c.1706C>A	c.(1705-1707)CCT>CAT	p.P569H	PKD1L2_uc002fgj.2_Missense_Mutation_p.P569H	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	569	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.172414	38.923037	50.690016	20	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81222569	81222569	12389	16	G	T	T	T	455	35	PKD1L2	2	2
ACACA	31	broad.mit.edu	37	17	35687289	35687289	+	Silent	SNP	A	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35687289A>G	uc002hno.2	-	c.162T>C	c.(160-162)TCT>TCC	p.S54S	ACACA_uc002hnm.2_Silent_p.S17S|ACACA_uc002hnn.2_Silent_p.S17S|ACACA_uc010cuz.2_Silent_p.S17S|ACACA_uc002hnq.2_5'UTR|ACACA_uc002hnp.1_Non-coding_Transcript|ACACA_uc002hnr.1_Non-coding_Transcript	NM_198834	NP_942131	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	17					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)				742				0.157718	94.215539	127.573646	47	251	KEEP	---	---	---	---	capture		Silent	SNP	35687289	35687289	107	17	A	G	G	G	132	11	ACACA	4	4
IGFBP4	3487	broad.mit.edu	37	17	38609369	38609369	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38609369C>T	uc002hus.2	+	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_001552	NP_001543	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	161					DNA metabolic process|signal transduction|skeletal system development						0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GBM(160;940 3581 26177)								0.12766	7.525946	13.791314	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38609369	38609369	7882	17	C	T	T	T	351	27	IGFBP4	1	1
ACLY	47	broad.mit.edu	37	17	40034439	40034439	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40034439C>T	uc002hyi.2	-	c.2566G>A	c.(2566-2568)GAA>AAA	p.E856K	ACLY_uc002hyg.2_Missense_Mutation_p.E802K|ACLY_uc002hyh.2_Missense_Mutation_p.E792K|ACLY_uc010wfx.1_Missense_Mutation_p.E846K|ACLY_uc010wfy.1_Missense_Mutation_p.E531K	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	802					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				Colon(64;807 1396 15971 30971)								0.069767	-1.205989	7.008191	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40034439	40034439	144	17	C	T	T	T	403	31	ACLY	1	1
ANKFY1	51479	broad.mit.edu	37	17	4120342	4120342	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4120342C>T	uc002fxn.2	-	c.520G>A	c.(520-522)GAT>AAT	p.D174N	ANKFY1_uc002fxo.2_Missense_Mutation_p.D132N|ANKFY1_uc002fxp.2_Missense_Mutation_p.D132N|ANKFY1_uc010ckp.2_Missense_Mutation_p.D73N|ANKFY1_uc002fxq.1_Missense_Mutation_p.D132N|ANKFY1_uc002fxr.2_Missense_Mutation_p.D132N|ANKFY1_uc010vrz.1_Missense_Mutation_p.D132N	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	132						endosome membrane	protein binding|zinc ion binding			ovary(2)	2														0.087719	0.841341	10.633537	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4120342	4120342	629	17	C	T	T	T	377	29	ANKFY1	2	2
EPX	8288	broad.mit.edu	37	17	56274428	56274428	+	Silent	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56274428C>T	uc002ivq.2	+	c.930C>T	c.(928-930)GAC>GAT	p.D310D		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	310		Calcium (By similarity).			hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.318841	170.912589	176.93214	66	141	KEEP	---	---	---	---	capture		Silent	SNP	56274428	56274428	5393	17	C	T	T	T	246	19	EPX	1	1
SCN4A	6329	broad.mit.edu	37	17	62041867	62041867	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62041867C>A	uc002jds.1	-	c.1413G>T	c.(1411-1413)ATG>ATT	p.M471I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	471					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.358974	39.937084	40.620959	14	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62041867	62041867	14402	17	C	A	A	A	325	25	SCN4A	2	2
GEMIN4	50628	broad.mit.edu	37	17	651064	651064	+	Silent	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:651064G>T	uc002frs.1	-	c.219C>A	c.(217-219)ATC>ATA	p.I73I	GEMIN4_uc010vqa.1_Silent_p.I73I	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	73					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)										0.176471	5.214241	6.892058	3	14	KEEP	---	---	---	---	capture		Silent	SNP	651064	651064	6598	17	G	T	T	T	421	33	GEMIN4	2	2
ALOX12	239	broad.mit.edu	37	17	6913618	6913618	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6913618T>A	uc002gdx.3	+	c.1868T>A	c.(1867-1869)GTG>GAG	p.V623E	ALOX12_uc002gdz.3_Missense_Mutation_p.V93E|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	623	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1														0.333333	149.379241	153.140521	51	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6913618	6913618	539	17	T	A	A	A	767	59	ALOX12	3	3
TTYH2	94015	broad.mit.edu	37	17	72256330	72256330	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72256330G>A	uc002jkc.2	+	c.1587G>A	c.(1585-1587)GGG>GGA	p.G529G	TTYH2_uc010wqw.1_Silent_p.G508G|TTYH2_uc002jkd.2_Silent_p.G208G	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	529	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4														0.217195	105.179587	121.513595	48	173	KEEP	---	---	---	---	capture		Silent	SNP	72256330	72256330	17295	17	G	A	A	A	522	41	TTYH2	2	2
METRNL	284207	broad.mit.edu	37	17	81042956	81042956	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:81042956A>T	uc002kgh.2	+	c.313A>T	c.(313-315)ACC>TCC	p.T105S	METRNL_uc002kgi.2_Missense_Mutation_p.T23S	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation	105						extracellular region					0	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)											0.1	2.205146	6.997926	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81042956	81042956	9878	17	A	T	T	T	130	10	METRNL	3	3
FAM38B	63895	broad.mit.edu	37	18	10672704	10672704	+	Silent	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:10672704C>T	uc002kor.3	-	c.1860G>A	c.(1858-1860)GGG>GGA	p.G620G	FAM38B_uc002koq.2_Silent_p.G455G	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2663	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1														0.054187	-21.851046	20.604121	11	192	KEEP	---	---	---	---	capture		Silent	SNP	10672704	10672704	5776	18	C	T	T	T	223	18	FAM38B	2	2
DSG1	1828	broad.mit.edu	37	18	28916419	28916419	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28916419T>A	uc002kwp.2	+	c.1108T>A	c.(1108-1110)TCT>ACT	p.S370T		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	370	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.284672	109.174457	114.872851	39	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28916419	28916419	4960	18	T	A	A	A	650	50	DSG1	3	3
DSG4	147409	broad.mit.edu	37	18	28980983	28980983	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28980983G>A	uc002kwr.2	+	c.1417G>A	c.(1417-1419)GAT>AAT	p.D473N	DSG4_uc002kwq.2_Missense_Mutation_p.D473N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 1 preproprotein	473	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.34375	66.932715	68.311876	22	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28980983	28980983	4963	18	G	A	A	A	611	47	DSG4	2	2
ASXL3	80816	broad.mit.edu	37	18	31250636	31250636	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31250636G>T	uc010dmg.1	+	c.478_splice	c.e6-1	p.A160_splice	ASXL3_uc002kxq.2_Splice_Site_SNP	NM_030632	NP_085135			additional sex combs like 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.636364	20.825685	21.005092	7	4	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31250636	31250636	1087	18	G	T	T	T	455	35	ASXL3	5	2
GLT25D1	79709	broad.mit.edu	37	19	17671210	17671210	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17671210A>T	uc002nhc.1	+	c.425A>T	c.(424-426)CAT>CTT	p.H142L		NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	142					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0														0.285714	39.135711	41.151301	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17671210	17671210	6734	19	A	T	T	T	104	8	GLT25D1	3	3
TM6SF2	53345	broad.mit.edu	37	19	19381871	19381871	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19381871G>A	uc002nmd.1	-	c.159C>T	c.(157-159)AGC>AGT	p.S53S	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	53	Helical; (Potential).					integral to membrane					0			Epithelial(12;0.0151)											0.341176	79.252017	81.145431	29	56	KEEP	---	---	---	---	capture		Silent	SNP	19381871	19381871	16503	19	G	A	A	A	438	34	TM6SF2	2	2
ZNF100	163227	broad.mit.edu	37	19	21910505	21910505	+	Silent	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21910505T>C	uc002nqi.2	-	c.609A>G	c.(607-609)AAA>AAG	p.K203K	ZNF100_uc002nqh.2_Silent_p.K139K	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.043478	-19.154501	11.659152	6	132	KEEP	---	---	---	---	capture		Silent	SNP	21910505	21910505	18304	19	T	C	C	C	777	60	ZNF100	4	4
AES	166	broad.mit.edu	37	19	3061240	3061240	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3061240G>A	uc002lxb.1	-	c.244C>T	c.(244-246)CCC>TCC	p.P82S	AES_uc002lwy.1_Missense_Mutation_p.P15S|AES_uc002lwz.1_Missense_Mutation_p.P15S|AES_uc002lxa.1_5'UTR|AES_uc002lxc.2_Missense_Mutation_p.P82S	NM_198969	NP_945320	Q08117	AES_HUMAN	amino-terminal enhancer of split isoform a	15	Gln-rich (Q domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of protein binding|negative regulation of response to cytokine stimulus|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		Pancreas(11;265 407 11814 26840 35326)								0.103448	4.128175	13.19256	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3061240	3061240	353	19	G	A	A	A	572	44	AES	2	2
ZNF567	163081	broad.mit.edu	37	19	37210123	37210123	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37210123G>T	uc010xtl.1	+	c.497G>T	c.(496-498)GGG>GTG	p.G166V	ZNF567_uc002oeo.1_Missense_Mutation_p.G166V|ZNF567_uc010xtk.1_Missense_Mutation_p.G166V|ZNF567_uc002oep.3_Missense_Mutation_p.G135V|ZNF567_uc002oeq.1_Missense_Mutation_p.G135V	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)											0.195402	33.819598	41.351357	17	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37210123	37210123	18593	19	G	T	T	T	559	43	ZNF567	2	2
DYRK1B	9149	broad.mit.edu	37	19	40316843	40316843	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40316843C>A	uc002omj.2	-	c.1495G>T	c.(1495-1497)GAC>TAC	p.D499Y	DYRK1B_uc002omi.2_Missense_Mutation_p.D471Y|DYRK1B_uc002omk.2_Missense_Mutation_p.D459Y	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	499	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent|protein phosphorylation	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|central_nervous_system(1)|skin(1)	6	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)							105				0.115942	15.693331	35.741955	16	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40316843	40316843	5041	19	C	A	A	A	416	32	DYRK1B	2	2
ZNF229	7772	broad.mit.edu	37	19	44932705	44932705	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44932705G>C	uc002oze.1	-	c.2251C>G	c.(2251-2253)CAG>GAG	p.Q751E	ZNF229_uc010ejk.1_Missense_Mutation_p.Q405E|ZNF229_uc010ejl.1_Missense_Mutation_p.Q745E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	751	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.183486	54.042832	64.283623	20	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44932705	44932705	18373	19	G	C	C	C	585	45	ZNF229	3	3
CLPTM1	1209	broad.mit.edu	37	19	45489713	45489713	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45489713A>T	uc002pai.2	+	c.673A>T	c.(673-675)AGG>TGG	p.R225W	CLPTM1_uc010ejv.1_Missense_Mutation_p.R123W|CLPTM1_uc010xxf.1_Missense_Mutation_p.R123W|CLPTM1_uc010xxg.1_Missense_Mutation_p.R211W	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	225	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)						199				0.111111	11.592302	29.087765	13	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45489713	45489713	3692	19	A	T	T	T	140	11	CLPTM1	3	3
ERCC2	2068	broad.mit.edu	37	19	45867504	45867504	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45867504C>A	uc002pbj.2	-	c.804G>T	c.(802-804)AAG>AAT	p.K268N	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.K190N|ERCC2_uc002pbk.2_Missense_Mutation_p.K244N|ERCC2_uc002pbl.3_Missense_Mutation_p.K244N|ERCC2_uc010xxj.1_Non-coding_Transcript	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	268	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(1)|pancreas(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)						447				0.268293	25.403522	27.393218	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45867504	45867504	5406	19	C	A	A	A	415	32	ERCC2	2	2
CPT1C	126129	broad.mit.edu	37	19	50210786	50210786	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50210786A>T	uc002ppj.2	+	c.1355A>T	c.(1354-1356)AAA>ATA	p.K452I	CPT1C_uc002ppl.3_Missense_Mutation_p.K418I|CPT1C_uc002ppi.2_Missense_Mutation_p.K369I|CPT1C_uc002ppk.2_Missense_Mutation_p.K441I|CPT1C_uc010eng.2_Missense_Mutation_p.K452I|CPT1C_uc010enh.2_Missense_Mutation_p.K452I|CPT1C_uc010ybc.1_Missense_Mutation_p.K323I|CPT1C_uc010eni.1_Missense_Mutation_p.K109I	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	452	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)										0.208955	28.914658	34.169272	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50210786	50210786	3972	19	A	T	T	T	13	1	CPT1C	3	3
GPR32	2854	broad.mit.edu	37	19	51274220	51274220	+	Silent	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51274220G>T	uc010ycf.1	+	c.363G>T	c.(361-363)GTG>GTT	p.V121V		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	121	Helical; Name=3; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		Esophageal Squamous(113;152 1581 5732 15840 44398)								0.123077	19.410366	37.486061	16	114	KEEP	---	---	---	---	capture		Silent	SNP	51274220	51274220	6963	19	G	T	T	T	613	48	GPR32	2	2
ZNF578	147660	broad.mit.edu	37	19	53014631	53014631	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53014631C>A	uc002pzp.3	+	c.997C>A	c.(997-999)CAT>AAT	p.H333N		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	108	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)										0.137405	29.218554	45.834618	18	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53014631	53014631	18605	19	C	A	A	A	273	21	ZNF578	2	2
ZSCAN5A	79149	broad.mit.edu	37	19	56736248	56736248	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56736248C>A	uc002qmq.2	-	c.168G>T	c.(166-168)TCG>TCT	p.S56S	ZSCAN5A_uc010ygi.1_Intron|ZSCAN5A_uc002qmr.2_Silent_p.S56S|ZSCAN5A_uc002qms.1_Silent_p.S56S	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	56	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.108696	3.935578	10.942814	5	41	KEEP	---	---	---	---	capture		Silent	SNP	56736248	56736248	18842	19	C	A	A	A	288	23	ZSCAN5A	1	1
FBN3	84467	broad.mit.edu	37	19	8206690	8206690	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8206690T>C	uc002mjf.2	-	c.776A>G	c.(775-777)CAG>CGG	p.Q259R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	259	EGF-like 2; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.340909	38.664805	39.672257	15	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8206690	8206690	5940	19	T	C	C	C	715	55	FBN3	4	4
DBT	1629	broad.mit.edu	37	1	100672088	100672088	+	Silent	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100672088C>T	uc001dta.2	-	c.1122G>A	c.(1120-1122)CTG>CTA	p.L374L	DBT_uc010oug.1_Silent_p.L193L	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	374					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)										0.056075	-31.643758	34.81295	18	303	KEEP	---	---	---	---	capture		Silent	SNP	100672088	100672088	4429	1	C	T	T	T	366	29	DBT	2	2
WNT2B	7482	broad.mit.edu	37	1	113059924	113059924	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:113059924G>A	uc001ecb.2	+	c.863G>A	c.(862-864)CGC>CAC	p.R288H	WNT2B_uc001eca.2_Missense_Mutation_p.R269H|WNT2B_uc009wgg.2_Missense_Mutation_p.R196H	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	288					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(1)	1	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.157895	13.508021	19.818423	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113059924	113059924	17961	1	G	A	A	A	494	38	WNT2B	1	1
PHTF1	10745	broad.mit.edu	37	1	114267487	114267487	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114267487C>A	uc009wgp.1	-	c.517G>T	c.(517-519)GGG>TGG	p.G173W	PHTF1_uc001edn.2_Missense_Mutation_p.G173W|PHTF1_uc010own.1_Missense_Mutation_p.G173W	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	173					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.068182	-1.712625	6.777075	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114267487	114267487	12286	1	C	A	A	A	273	21	PHTF1	2	2
DENND2C	163259	broad.mit.edu	37	1	115166223	115166223	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115166223C>T	uc001efd.1	-	c.848G>A	c.(847-849)CGG>CAG	p.R283Q	DENND2C_uc001eez.2_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R283Q	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	283											0	all_epithelial(7;9.54e-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)										0.135135	23.518283	37.784254	15	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115166223	115166223	4609	1	C	T	T	T	299	23	DENND2C	1	1
HFE2	148738	broad.mit.edu	37	1	145416843	145416843	+	Silent	SNP	C	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145416843C>G	uc001eni.2	+	c.1188C>G	c.(1186-1188)CTC>CTG	p.L396L	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Silent_p.L170L|HFE2_uc001enk.2_Silent_p.L283L|HFE2_uc001enl.2_Silent_p.L170L	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	396					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.04065	-15.23442	12.70657	5	118	KEEP	---	---	---	---	capture		Silent	SNP	145416843	145416843	7365	1	C	G	G	G	405	32	HFE2	3	3
C1orf54	79630	broad.mit.edu	37	1	150245265	150245265	+	Silent	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150245265G>T	uc001euc.2	+	c.45G>T	c.(43-45)CTG>CTT	p.L15L	C1orf54_uc001eud.2_Silent_p.L15L|C1orf54_uc001eue.2_Silent_p.L15L|C1orf54_uc001euf.2_Silent_p.L15L|C1orf54_uc001eug.2_Silent_p.L15L	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630 precursor	15						extracellular region					0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.153846	58.673768	82.499108	32	176	KEEP	---	---	---	---	capture		Silent	SNP	150245265	150245265	2120	1	G	T	T	T	600	47	C1orf54	2	2
SMG5	23381	broad.mit.edu	37	1	156237397	156237397	+	Silent	SNP	C	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156237397C>G	uc001foc.3	-	c.981G>C	c.(979-981)CTG>CTC	p.L327L	SMG5_uc009wrv.2_5'Flank	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	327					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)													0.155556	30.102071	40.291672	14	76	KEEP	---	---	---	---	capture		Silent	SNP	156237397	156237397	15294	1	C	G	G	G	314	25	SMG5	3	3
NTRK1	4914	broad.mit.edu	37	1	156845459	156845459	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156845459G>T	uc001fqh.1	+	c.1501_splice	c.e12+1	p.C501_splice	NTRK1_uc001fqf.1_Splice_Site_SNP_p.C465_splice|NTRK1_uc009wsi.1_Splice_Site_SNP_p.C200_splice|NTRK1_uc001fqi.1_Splice_Site_SNP_p.C495_splice|NTRK1_uc009wsk.1_Splice_Site_SNP_p.S495_splice	NM_002529	NP_002520			neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|stomach(1)|central_nervous_system(1)	16	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)					290	TSP Lung(10;0.080)			0.333333	53.552163	54.87057	18	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	156845459	156845459	11111	1	G	T	T	T	624	48	NTRK1	5	2
LY9	4063	broad.mit.edu	37	1	160789137	160789137	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160789137C>T	uc001fwu.2	+	c.1471C>T	c.(1471-1473)CAA>TAA	p.Q491*	LY9_uc001fwv.2_Nonsense_Mutation_p.Q491*|LY9_uc001fww.2_Nonsense_Mutation_p.Q401*|LY9_uc001fwx.2_Nonsense_Mutation_p.Q401*|LY9_uc001fwy.1_Nonsense_Mutation_p.Q303*|LY9_uc001fwz.2_Nonsense_Mutation_p.Q143*	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	491	Cytoplasmic (Potential).				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.32549	224.711549	231.615605	83	172	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	160789137	160789137	9478	1	C	T	T	T	273	21	LY9	5	2
OLFML2B	25903	broad.mit.edu	37	1	161970075	161970075	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161970075G>A	uc010pkq.1	-	c.780C>T	c.(778-780)ATC>ATT	p.I260I	OLFML2B_uc001gbu.2_Silent_p.I259I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	259											0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.381818	178.471807	180.497097	63	102	KEEP	---	---	---	---	capture		Silent	SNP	161970075	161970075	11263	1	G	A	A	A	473	37	OLFML2B	1	1
PADI4	23569	broad.mit.edu	37	1	17634806	17634806	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17634806G>T	uc001baj.2	+	c.89G>T	c.(88-90)TGC>TTC	p.C30F	PADI4_uc009vpc.2_Missense_Mutation_p.C30F	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	30					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)									0.237288	33.617104	37.341184	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17634806	17634806	11796	1	G	T	T	T	598	46	PADI4	2	2
RGS18	64407	broad.mit.edu	37	1	192127796	192127796	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192127796A>T	uc001gsg.2	+	c.29A>T	c.(28-30)CAA>CTA	p.Q10L		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	10					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3														0.128571	12.730586	22.136153	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192127796	192127796	13774	1	A	T	T	T	65	5	RGS18	3	3
CRB1	23418	broad.mit.edu	37	1	197404574	197404574	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197404574G>T	uc001gtz.2	+	c.3581G>T	c.(3580-3582)AGA>ATA	p.R1194I	CRB1_uc010poz.1_Missense_Mutation_p.R1170I|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.R1082I|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.R675I|CRB1_uc001gub.1_Missense_Mutation_p.R843I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1194	EGF-like 16; calcium-binding (Potential).|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.3375	69.596904	71.466911	27	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197404574	197404574	3987	1	G	T	T	T	429	33	CRB1	2	2
ATP2B4	493	broad.mit.edu	37	1	203678661	203678661	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203678661T>C	uc001gzw.2	+	c.1790T>C	c.(1789-1791)ATC>ACC	p.I597T	ATP2B4_uc001gzv.2_Missense_Mutation_p.I597T|ATP2B4_uc009xaq.2_Missense_Mutation_p.I597T	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	597	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)	2	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.109375	9.284638	18.947999	7	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203678661	203678661	1161	1	T	C	C	C	650	50	ATP2B4	4	4
EDARADD	128178	broad.mit.edu	37	1	236645850	236645850	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236645850C>A	uc001hxu.1	+	c.549C>A	c.(547-549)TGC>TGA	p.C183*	EDARADD_uc001hxv.1_Nonsense_Mutation_p.C173*	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A	183	Death.				cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.175115	70.850554	92.442265	38	179	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	236645850	236645850	5093	1	C	A	A	A	324	25	EDARADD	5	2
ACTN2	88	broad.mit.edu	37	1	236898981	236898981	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236898981C>A	uc001hyf.2	+	c.744C>A	c.(742-744)TAC>TAA	p.Y248*	ACTN2_uc001hyg.2_Nonsense_Mutation_p.Y3*|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	248	CH 2.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.365217	129.134145	130.965318	42	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	236898981	236898981	206	1	C	A	A	A	246	19	ACTN2	5	1
RYR2	6262	broad.mit.edu	37	1	237551398	237551398	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237551398G>T	uc001hyl.1	+	c.688G>T	c.(688-690)GGT>TGT	p.G230C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	230	Cytoplasmic (By similarity).|MIR 3.				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)											0.444444	60.192544	60.31382	20	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237551398	237551398	14249	1	G	T	T	T	611	47	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237969450	237969450	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237969450T>C	uc001hyl.1	+	c.14165T>C	c.(14164-14166)CTA>CCA	p.L4722P	RYR2_uc010pyb.1_Missense_Mutation_p.L155P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4722	Helical; Name=M7; (Potential).				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)											0.362069	69.763789	70.732927	21	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237969450	237969450	14249	1	T	C	C	C	689	53	RYR2	4	4
NLRP3	114548	broad.mit.edu	37	1	247588134	247588134	+	Missense_Mutation	SNP	C	G	G	rs104895398		TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247588134C>G	uc001icr.2	+	c.1389C>G	c.(1387-1389)TGC>TGG	p.C463W	NLRP3_uc001ics.2_Missense_Mutation_p.C463W|NLRP3_uc001icu.2_Missense_Mutation_p.C463W|NLRP3_uc001icw.2_Missense_Mutation_p.C463W|NLRP3_uc001icv.2_Missense_Mutation_p.C463W|NLRP3_uc010pyw.1_Missense_Mutation_p.C461W|NLRP3_uc001ict.1_Missense_Mutation_p.C461W	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	463	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.138462	11.379747	19.742695	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247588134	247588134	10881	1	C	G	G	G	350	27	NLRP3	3	3
DCDC2B	149069	broad.mit.edu	37	1	32677383	32677383	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32677383T>G	uc001bun.2	+	c.340T>G	c.(340-342)TTG>GTG	p.L114V		NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	114					intracellular signal transduction						0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)												0.25	9.892107	10.80136	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32677383	32677383	4457	1	T	G	G	G	725	56	DCDC2B	4	4
KIAA0754	643314	broad.mit.edu	37	1	39876290	39876290	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39876290G>T	uc009vvt.1	+	c.353G>T	c.(352-354)AGG>ATG	p.R118M	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	Error:Variant_position_missing_in_O94854_after_alignment											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.145985	34.005733	50.515763	20	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39876290	39876290	8499	1	G	T	T	T	455	35	KIAA0754	2	2
C1orf177	163747	broad.mit.edu	37	1	55277510	55277510	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55277510C>T	uc001cyb.3	+	c.524C>T	c.(523-525)CCA>CTA	p.P175L	C1orf177_uc001cya.3_Missense_Mutation_p.P175L	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	175											0														0.181818	19.077658	23.258704	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55277510	55277510	2084	1	C	T	T	T	273	21	C1orf177	2	2
WDR78	79819	broad.mit.edu	37	1	67370902	67370902	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67370902G>A	uc001dcx.2	-	c.327C>T	c.(325-327)CCC>CCT	p.P109P	WDR78_uc001dcy.2_Silent_p.P109P|WDR78_uc001dcz.2_Silent_p.P109P	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	109										ovary(2)	2														0.135029	99.708587	165.712133	69	442	KEEP	---	---	---	---	capture		Silent	SNP	67370902	67370902	17901	1	G	A	A	A	600	47	WDR78	2	2
DEPDC1	55635	broad.mit.edu	37	1	68947177	68947177	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:68947177C>G	uc001dem.3	-	c.1881G>C	c.(1879-1881)ATG>ATC	p.M627I	DEPDC1_uc001dej.3_5'UTR|DEPDC1_uc001dek.3_Non-coding_Transcript|DEPDC1_uc001del.3_Missense_Mutation_p.M343I	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	627	Interaction with ZNF224.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding|transcription repressor activity				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)										0.112245	15.64765	30.207207	11	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68947177	68947177	4618	1	C	G	G	G	377	29	DEPDC1	3	3
AK5	26289	broad.mit.edu	37	1	77752792	77752792	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:77752792G>A	uc001dhn.2	+	c.227G>A	c.(226-228)CGG>CAG	p.R76Q	AK5_uc001dho.2_Missense_Mutation_p.R50Q|AK5_uc001dhm.1_Missense_Mutation_p.R76Q	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	76					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														0.12766	20.239926	32.938063	12	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77752792	77752792	446	1	G	A	A	A	507	39	AK5	1	1
FNBP1L	54874	broad.mit.edu	37	1	93998519	93998519	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:93998519G>C	uc001dpw.2	+	c.680G>C	c.(679-681)AGT>ACT	p.S227T	FNBP1L_uc001dpv.2_Missense_Mutation_p.S227T|FNBP1L_uc010otk.1_Missense_Mutation_p.S47T	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	227	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)										0.166667	22.139101	27.828231	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93998519	93998519	6208	1	G	C	C	C	468	36	FNBP1L	3	3
ZNF133	7692	broad.mit.edu	37	20	18296289	18296289	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18296289C>T	uc010zrv.1	+	c.803C>T	c.(802-804)TCG>TTG	p.S268L	ZNF133_uc010gcq.2_Missense_Mutation_p.S265L|ZNF133_uc010zrw.1_Missense_Mutation_p.S202L|ZNF133_uc010gcr.2_Missense_Mutation_p.S265L|ZNF133_uc010zrx.1_Missense_Mutation_p.S170L|ZNF133_uc002wql.3_Missense_Mutation_p.S264L|ZNF133_uc010gcs.2_Missense_Mutation_p.S264L|ZNF133_uc010zry.1_Missense_Mutation_p.S170L|ZNF133_uc002wqm.2_Missense_Mutation_p.S265L	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	265					regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.060241	-8.172329	8.59935	5	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18296289	18296289	18314	20	C	T	T	T	403	31	ZNF133	1	1
MATN4	8785	broad.mit.edu	37	20	43933171	43933171	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43933171C>A	uc002xnn.2	-	c.340G>T	c.(340-342)GGA>TGA	p.G114*	MATN4_uc002xno.2_Nonsense_Mutation_p.G114*|MATN4_uc002xnp.2_Nonsense_Mutation_p.G114*|MATN4_uc010zwr.1_Nonsense_Mutation_p.G62*|MATN4_uc002xnr.1_Nonsense_Mutation_p.G114*|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	114	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)												0.304348	35.032196	36.603797	14	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43933171	43933171	9720	20	C	A	A	A	286	22	MATN4	5	2
KCNB1	3745	broad.mit.edu	37	20	47991417	47991418	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47991417_47991418GG>AA	uc002xur.1	-	c.679_680CC>TT	c.(679-681)CCC>TTC	p.P227F	KCNB1_uc002xus.1_Missense_Mutation_p.P227F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	227					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.25	47.631902	51.921116	19	57	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47991417	47991418	8317	20	GG	AA	AA	AA	559	43	KCNB1	2	2
FAM65C	140876	broad.mit.edu	37	20	49218697	49218697	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49218697A>G	uc010zyt.1	-	c.1571T>C	c.(1570-1572)GTC>GCC	p.V524A	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.2_Missense_Mutation_p.V520A|FAM65C_uc002xvn.1_Missense_Mutation_p.V520A	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	520										ovary(2)	2														0.266667	17.610045	19.153949	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49218697	49218697	5824	20	A	G	G	G	130	10	FAM65C	4	4
ZNF831	128611	broad.mit.edu	37	20	57768689	57768689	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57768689G>T	uc002yan.2	+	c.2615G>T	c.(2614-2616)AGT>ATT	p.S872I		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	872						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.196721	25.880162	31.096475	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57768689	57768689	18784	20	G	T	T	T	468	36	ZNF831	2	2
C20orf195	79025	broad.mit.edu	37	20	62187642	62187642	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62187642C>T	uc002yfj.2	+	c.626C>T	c.(625-627)CCT>CTT	p.P209L	C20orf195_uc002yfk.2_Missense_Mutation_p.P209L	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	209											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)											0.254237	40.499143	43.732218	15	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62187642	62187642	2178	20	C	T	T	T	312	24	C20orf195	2	2
RNF160	26046	broad.mit.edu	37	21	30329087	30329087	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30329087T>A	uc002ymr.2	-	c.3214A>T	c.(3214-3216)ATA>TTA	p.I1072L		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1026							ligase activity|zinc ion binding				0														0.195122	17.578285	21.131511	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30329087	30329087	13932	21	T	A	A	A	676	52	RNF160	3	3
RSPH1	89765	broad.mit.edu	37	21	43896062	43896062	+	Silent	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43896062G>T	uc002zbg.2	-	c.823C>A	c.(823-825)CGG>AGG	p.R275R		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	275					meiosis	cytosol|nucleus				ovary(1)	1						Esophageal Squamous(23;63 706 6286 10288 12913)								0.226667	40.118343	45.283937	17	58	KEEP	---	---	---	---	capture		Silent	SNP	43896062	43896062	14182	21	G	T	T	T	506	39	RSPH1	1	1
GAB4	128954	broad.mit.edu	37	22	17445725	17445725	+	Silent	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17445725T>C	uc002zlw.2	-	c.1407A>G	c.(1405-1407)CAA>CAG	p.Q469Q		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	469										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.223881	43.595069	48.285968	15	52	KEEP	---	---	---	---	capture		Silent	SNP	17445725	17445725	6402	22	T	C	C	C	777	60	GAB4	4	4
CECR2	27443	broad.mit.edu	37	22	18022493	18022493	+	Silent	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18022493G>C	uc010gqw.1	+	c.2595G>C	c.(2593-2595)GCG>GCC	p.A865A	CECR2_uc010gqv.1_Silent_p.A724A|CECR2_uc002zml.2_Silent_p.A724A	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	907					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)										0.109756	14.306482	26.585722	9	73	KEEP	---	---	---	---	capture		Silent	SNP	18022493	18022493	3339	22	G	C	C	C	470	37	CECR2	3	3
GNAZ	2781	broad.mit.edu	37	22	23438214	23438214	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:23438214C>A	uc002zwu.1	+	c.332C>A	c.(331-333)ACG>AAG	p.T111K	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	111						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)										0.297872	36.133096	37.849799	14	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23438214	23438214	6783	22	C	A	A	A	247	19	GNAZ	1	1
PES1	23481	broad.mit.edu	37	22	30976163	30976163	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30976163C>G	uc003aij.1	-	c.1046G>C	c.(1045-1047)AGT>ACT	p.S349T	PES1_uc003aik.1_Missense_Mutation_p.S344T|PES1_uc003ail.1_Missense_Mutation_p.S332T|PES1_uc003aim.1_Missense_Mutation_p.S349T|PES1_uc003ain.1_Missense_Mutation_p.S210T|PES1_uc003aio.1_Missense_Mutation_p.S210T	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	349	Sufficient for interaction with MAP1B (By similarity).|BRCT.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0														0.081081	0.498536	7.111879	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30976163	30976163	12154	22	C	G	G	G	260	20	PES1	3	3
LIMK2	3985	broad.mit.edu	37	22	31644745	31644745	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31644745G>T	uc003akj.2	+	c.43G>T	c.(43-45)GAC>TAC	p.D15Y	LIMK2_uc003akg.2_Intron|LIMK2_uc003akh.2_Intron|LIMK2_uc003aki.2_Intron|LIMK2_uc003akk.2_Missense_Mutation_p.D15Y|LIMK2_uc011aln.1_5'UTR	NM_001031801	NP_001026971	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 1	Error:Variant_position_missing_in_P53671_after_alignment					protein phosphorylation	mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2										431				0.139344	22.194962	37.531245	17	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31644745	31644745	9128	22	G	T	T	T	429	33	LIMK2	2	2
SFI1	9814	broad.mit.edu	37	22	31979927	31979927	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31979927C>T	uc003ale.2	+	c.1315C>T	c.(1315-1317)CCC>TCC	p.P439S	SFI1_uc003ald.1_Missense_Mutation_p.P415S|SFI1_uc003alf.2_Missense_Mutation_p.P408S|SFI1_uc003alg.2_Missense_Mutation_p.P357S|SFI1_uc011alp.1_Missense_Mutation_p.P357S|SFI1_uc011alq.1_Missense_Mutation_p.P384S|SFI1_uc003alh.2_Non-coding_Transcript|SFI1_uc010gwi.2_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	439					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1														0.208191	137.75994	160.841248	61	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31979927	31979927	14645	22	C	T	T	T	286	22	SFI1	2	2
IL1RN	3557	broad.mit.edu	37	2	113890416	113890416	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113890416G>A	uc002tiz.2	+	c.511G>A	c.(511-513)GTC>ATC	p.V171I	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiy.2_Missense_Mutation_p.V134I|IL1RN_uc002tja.2_Missense_Mutation_p.V150I|IL1RN_uc002tjb.2_Missense_Mutation_p.V168I	NM_173841	NP_776213	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist isoform 2	168					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			skin(1)	1					Anakinra(DB00026)					97				0.278351	129.688889	138.259946	54	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113890416	113890416	7966	2	G	A	A	A	572	44	IL1RN	2	2
MYO7B	4648	broad.mit.edu	37	2	128331592	128331592	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128331592G>A	uc002top.2	+	c.690G>A	c.(688-690)GCG>GCA	p.A230A		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	230	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)										0.094675	7.440669	35.268269	16	153	KEEP	---	---	---	---	capture		Silent	SNP	128331592	128331592	10478	2	G	A	A	A	483	38	MYO7B	1	1
MCM6	4175	broad.mit.edu	37	2	136603920	136603920	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136603920T>C	uc002tuw.2	-	c.2096A>G	c.(2095-2097)TAC>TGC	p.Y699C		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	699					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	Ovarian(196;141 2104 8848 24991 25939)								0.09387	45.011604	131.561437	49	473	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136603920	136603920	9780	2	T	C	C	C	741	57	MCM6	4	4
TPO	7173	broad.mit.edu	37	2	1480976	1480976	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1480976C>A	uc002qww.2	+	c.938C>A	c.(937-939)CCG>CAG	p.P313Q	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.P313Q|TPO_uc002qwr.2_Missense_Mutation_p.P313Q|TPO_uc002qwx.2_Missense_Mutation_p.P313Q|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.P313Q	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	313	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.368421	21.522263	21.810493	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1480976	1480976	16954	2	C	A	A	A	299	23	TPO	1	1
NEB	4703	broad.mit.edu	37	2	152539283	152539283	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152539283C>A	uc010fnx.2	-	c.2836G>T	c.(2836-2838)GTT>TTT	p.V946F		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	946	Nebulin 22.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.184615	24.210763	30.237292	12	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152539283	152539283	10701	2	C	A	A	A	234	18	NEB	2	2
DPP4	1803	broad.mit.edu	37	2	162902089	162902089	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162902089T>C	uc002ubz.2	-	c.319A>G	c.(319-321)ATA>GTA	p.I107V	DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_Non-coding_Transcript|DPP4_uc002ucb.1_Non-coding_Transcript	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	107	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)									0.240113	248.495297	270.325873	85	269	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162902089	162902089	4913	2	T	C	C	C	676	52	DPP4	4	4
LRP2	4036	broad.mit.edu	37	2	170063141	170063141	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170063141C>A	uc002ues.2	-	c.7089G>T	c.(7087-7089)TTG>TTT	p.L2363F		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2363	EGF-like 9.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.285714	101.340921	106.79422	38	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170063141	170063141	9329	2	C	A	A	A	324	25	LRP2	2	2
LRP2	4036	broad.mit.edu	37	2	170063148	170063148	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170063148G>A	uc002ues.2	-	c.7082C>T	c.(7081-7083)CCT>CTT	p.P2361L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2361	EGF-like 9.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.255639	89.38139	96.589335	34	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170063148	170063148	9329	2	G	A	A	A	455	35	LRP2	2	2
FAM119A	151194	broad.mit.edu	37	2	208489080	208489080	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208489080T>G	uc002vcf.2	-	c.20A>C	c.(19-21)GAG>GCG	p.E7A	FAM119A_uc002vce.2_Missense_Mutation_p.E7A|FAM119A_uc010fuk.1_Missense_Mutation_p.E7A|FAM119A_uc002vcg.3_Missense_Mutation_p.E7A	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	7						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)						1				0.234234	55.143127	62.383104	26	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	208489080	208489080	5610	2	T	G	G	G	702	54	FAM119A	4	4
APOB	338	broad.mit.edu	37	2	21263872	21263872	+	Silent	SNP	A	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21263872A>C	uc002red.2	-	c.321T>G	c.(319-321)CCT>CCG	p.P107P		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	107	Vitellogenin.|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.131579	3.674253	8.877878	5	33	KEEP	---	---	---	---	capture		Silent	SNP	21263872	21263872	796	2	A	C	C	C	80	7	APOB	4	4
CAB39	51719	broad.mit.edu	37	2	231658035	231658035	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231658035G>T	uc002vqx.2	+	c.387G>T	c.(385-387)ATG>ATT	p.M129I	CAB39_uc010fxr.2_Missense_Mutation_p.M129I|CAB39_uc010fxq.2_Missense_Mutation_p.M129I	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	129					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)										0.125	27.388482	48.341728	19	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231658035	231658035	2641	2	G	T	T	T	624	48	CAB39	2	2
EIF4E2	9470	broad.mit.edu	37	2	233421190	233421190	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233421190G>T	uc002vta.2	+	c.85G>T	c.(85-87)GAG>TAG	p.E29*	EIF4E2_uc002vtb.1_Nonsense_Mutation_p.E29*|EIF4E2_uc002vsz.2_Nonsense_Mutation_p.E29*|EIF4E2_uc010zmi.1_Nonsense_Mutation_p.E29*	NM_004846	NP_004837	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E	29					regulation of translation	cytoplasm|mRNA cap binding complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)										0.268293	26.903514	28.89304	11	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	233421190	233421190	5221	2	G	T	T	T	585	45	EIF4E2	5	2
INPP5D	3635	broad.mit.edu	37	2	233925269	233925269	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233925269C>A	uc010zmo.1	+	c.81C>A	c.(79-81)AGC>AGA	p.S27R	INPP5D_uc010zmp.1_Missense_Mutation_p.S27R	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	27	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		NSCLC(82;1215 1426 16163 20348 41018)				816				0.271186	34.084294	36.878799	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233925269	233925269	8057	2	C	A	A	A	363	28	INPP5D	2	2
CXCR7	57007	broad.mit.edu	37	2	237490163	237490163	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:237490163C>T	uc010fyq.2	+	c.1055C>T	c.(1054-1056)ACG>ATG	p.T352M	CXCR7_uc002vwd.2_Missense_Mutation_p.T352M	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	352	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)						49				0.090909	1.605142	18.343678	9	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237490163	237490163	4256	2	C	T	T	T	247	19	CXCR7	1	1
STK25	10494	broad.mit.edu	37	2	242437747	242437747	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242437747T>A	uc002wbm.2	-	c.935A>T	c.(934-936)GAC>GTC	p.D312V	STK25_uc002wbk.2_Missense_Mutation_p.D131V|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Missense_Mutation_p.D312V|STK25_uc002wbo.2_Missense_Mutation_p.D235V|STK25_uc010zos.1_Missense_Mutation_p.D218V|STK25_uc010zot.1_Missense_Mutation_p.D238V|STK25_uc002wbp.2_Missense_Mutation_p.D312V|STK25_uc010fzo.2_Missense_Mutation_p.D235V|STK25_uc010zou.1_Missense_Mutation_p.D218V|STK25_uc010zov.1_Missense_Mutation_p.D218V	NM_006374	NP_006365	O00506	STK25_HUMAN	serine/threonine kinase 25	312					protein phosphorylation|response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		NSCLC(99;1100 1566 7679 28647 48345)				211				0.290323	19.662847	20.885533	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242437747	242437747	15814	2	T	A	A	A	754	58	STK25	3	3
ING5	84289	broad.mit.edu	37	2	242651391	242651391	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242651391A>T	uc002wcc.1	+	c.389_splice	c.e5-2	p.K130_splice	ING5_uc002wcd.2_Splice_Site_SNP_p.K130_splice	NM_032329	NP_115705			inhibitor of growth family, member 5						DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)										0.5	42.174675	42.174675	13	13	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	242651391	242651391	8040	2	A	T	T	T	91	7	ING5	5	3
C2orf39	92749	broad.mit.edu	37	2	26676332	26676332	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26676332G>T	uc002rhg.2	+	c.1834G>T	c.(1834-1836)GAG>TAG	p.E612*		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	612	Glu-rich.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.25	9.592216	10.501346	4	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26676332	26676332	2252	2	G	T	T	T	533	41	C2orf39	5	2
PREB	10113	broad.mit.edu	37	2	27356508	27356508	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27356508T>C	uc002rix.1	-	c.217A>G	c.(217-219)ATG>GTG	p.M73V	PREB_uc002riy.1_Missense_Mutation_p.M1V|PREB_uc002riz.1_Non-coding_Transcript|PREB_uc002rja.1_Missense_Mutation_p.M73V	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	73	Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)											OREG0014515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.394737	47.518654	47.886612	15	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27356508	27356508	12913	2	T	C	C	C	663	51	PREB	4	4
CDKL4	344387	broad.mit.edu	37	2	39406328	39406328	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39406328C>A	uc010fal.1	-	c.927G>T	c.(925-927)CAG>CAT	p.Q309H	CDKL4_uc002rrm.2_Missense_Mutation_p.Q309H	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	309					protein phosphorylation	cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)								219				0.057229	-24.360045	43.967792	19	313	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39406328	39406328	3285	2	C	A	A	A	311	24	CDKL4	2	2
ZNF80	7634	broad.mit.edu	37	3	113955745	113955745	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113955745G>T	uc010hqo.2	-	c.177C>A	c.(175-177)AAC>AAA	p.N59K	ZNF80_uc003ebf.2_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	59	C2H2-type 1.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GBM(23;986 1114 21716)								0.183486	42.84326	53.085783	20	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113955745	113955745	18766	3	G	T	T	T	620	48	ZNF80	2	2
SEMA5B	54437	broad.mit.edu	37	3	122680072	122680072	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122680072G>T	uc003efz.1	-	c.39C>A	c.(37-39)CAC>CAA	p.H13Q	SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.H13Q|SEMA5B_uc010hro.1_Intron|SEMA5B_uc010hrp.1_Intron	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	13	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.097015	5.676833	27.494925	13	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122680072	122680072	14524	3	G	T	T	T	568	44	SEMA5B	2	2
KALRN	8997	broad.mit.edu	37	3	123987728	123987728	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123987728G>T	uc003ehg.2	+	c.589G>T	c.(589-591)GCC>TCC	p.A197S	KALRN_uc010hrv.1_Missense_Mutation_p.A197S|KALRN_uc003ehf.1_Missense_Mutation_p.A197S|KALRN_uc011bjy.1_Missense_Mutation_p.A197S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	197	Spectrin 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.333333	31.290728	32.17499	12	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123987728	123987728	8279	3	G	T	T	T	494	38	KALRN	1	1
KALRN	8997	broad.mit.edu	37	3	124397099	124397099	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124397099A>T	uc003ehg.2	+	c.7256A>T	c.(7255-7257)AAA>ATA	p.K2419I	KALRN_uc003ehk.2_Missense_Mutation_p.K722I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2418					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.34965	125.190888	128.04989	50	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124397099	124397099	8279	3	A	T	T	T	13	1	KALRN	3	3
EPHB1	2047	broad.mit.edu	37	3	134851646	134851647	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134851646_134851647GG>TT	uc003eqt.2	+	c.1052_1053GG>TT	c.(1051-1053)CGG>CTT	p.R351L	EPHB1_uc010htz.1_Non-coding_Transcript|EPHB1_uc011bly.1_Missense_Mutation_p.G240L|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	351	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.269231	38.930173	41.427404	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	134851646	134851647	5367	3	GG	TT	TT	TT	507	39	EPHB1	1	1
HDAC11	79885	broad.mit.edu	37	3	13546159	13546159	+	Silent	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13546159G>T	uc003bxy.2	+	c.1020G>T	c.(1018-1020)CCG>CCT	p.P340P	HDAC11_uc010heb.2_3'UTR|HDAC11_uc011aux.1_Silent_p.P148P|HDAC11_uc011auy.1_Silent_p.P289P	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2														0.25	7.819412	8.501009	3	9	KEEP	---	---	---	---	capture		Silent	SNP	13546159	13546159	7289	3	G	T	T	T	483	38	HDAC11	1	1
ATR	545	broad.mit.edu	37	3	142204090	142204090	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142204090C>T	uc003eux.3	-	c.6113G>A	c.(6112-6114)GGG>GAG	p.G2038E		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2038	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.264368	117.482394	126.209451	46	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142204090	142204090	1223	3	C	T	T	T	286	22	ATR	2	2
SI	6476	broad.mit.edu	37	3	164730786	164730786	+	Silent	SNP	C	G	G	rs75253993	by1000genomes	TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164730786C>G	uc003fei.2	-	c.4044G>C	c.(4042-4044)ACG>ACC	p.T1348T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1348	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)									0.284768	221.733095	234.288842	86	216	KEEP	---	---	---	---	capture		Silent	SNP	164730786	164730786	14792	3	C	G	G	G	288	23	SI	3	3
MUC4	4585	broad.mit.edu	37	3	195516064	195516064	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195516064C>T	uc011bto.1	-	c.2387G>A	c.(2386-2388)CGA>CAA	p.R796Q	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.R678Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	801	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)										0.24359	48.192816	52.862375	19	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	195516064	195516064	10372	3	C	T	T	T	403	31	MUC4	1	1
AZI2	64343	broad.mit.edu	37	3	28368430	28368430	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:28368430T>G	uc003ceb.2	-	c.659A>C	c.(658-660)CAG>CCG	p.Q220P	AZI2_uc003cec.2_Missense_Mutation_p.Q108P|AZI2_uc003ced.2_Missense_Mutation_p.Q220P|AZI2_uc003cee.3_Missense_Mutation_p.Q220P	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	220	Interaction with TBK1.					mitochondrion|plasma membrane				ovary(2)	2														0.153846	33.134846	45.047102	16	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28368430	28368430	1262	3	T	G	G	G	715	55	AZI2	4	4
SCN5A	6331	broad.mit.edu	37	3	38595865	38595866	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38595865_38595866CC>TT	uc003cio.2	-	c.4717_4718GG>AA	c.(4717-4719)GGC>AAC	p.G1573N	SCN5A_uc003cin.2_Missense_Mutation_p.G1572N|SCN5A_uc003cil.3_Missense_Mutation_p.G1573N|SCN5A_uc010hhi.2_Missense_Mutation_p.G1555N|SCN5A_uc010hhk.2_Splice_Site_DNP_p.G1572_splice|SCN5A_uc011ayr.1_Missense_Mutation_p.G1519N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1573	Helical; Name=S2 of repeat IV; (Potential).				blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.323383	167.994821	173.566698	65	136	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	38595865	38595866	14404	3	CC	TT	TT	TT	338	26	SCN5A	2	2
TGM4	7047	broad.mit.edu	37	3	44929222	44929222	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44929222G>C	uc003coc.3	+	c.235G>C	c.(235-237)GAC>CAC	p.D79H	TGM4_uc003coa.2_Missense_Mutation_p.D79H|TGM4_uc003cob.2_Intron	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	79					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)									0.287129	87.247348	91.344262	29	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44929222	44929222	16360	3	G	C	C	C	481	37	TGM4	3	3
CELSR3	1951	broad.mit.edu	37	3	48689361	48689361	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48689361G>C	uc003cuf.1	-	c.6082C>G	c.(6082-6084)CAC>GAC	p.H2028D	CELSR3_uc010hkg.2_5'UTR|CELSR3_uc003cul.2_Missense_Mutation_p.H1958D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1958	Extracellular (Potential).|EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.371429	44.066625	44.574734	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48689361	48689361	3356	3	G	C	C	C	585	45	CELSR3	3	3
CACNA2D3	55799	broad.mit.edu	37	3	54596841	54596841	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:54596841A>C	uc003dhf.2	+	c.559A>C	c.(559-561)AAT>CAT	p.N187H	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.N93H|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	187	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)										0.115942	12.763911	22.769784	8	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54596841	54596841	2666	3	A	C	C	C	65	5	CACNA2D3	4	4
FAM107A	11170	broad.mit.edu	37	3	58555535	58555535	+	Missense_Mutation	SNP	C	T	T	rs11539089		TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58555535C>T	uc003dko.2	-	c.146G>A	c.(145-147)CGG>CAG	p.R49Q	FAM107A_uc003dkm.2_Missense_Mutation_p.R18Q|FAM107A_uc003dkn.2_Missense_Mutation_p.R18Q|FAM107A_uc010hnm.2_Missense_Mutation_p.R46Q|FAM107A_uc003dkp.1_Missense_Mutation_p.R18Q	NM_007177	NP_009108	O95990	F107A_HUMAN	downregulated in renal cell carcinoma	18					regulation of cell growth	nucleus	protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)										0.106667	4.356166	15.905981	8	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58555535	58555535	5586	3	C	T	T	T	299	23	FAM107A	1	1
UBA3	9039	broad.mit.edu	37	3	69127009	69127009	+	Silent	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69127009T>A	uc003dno.2	-	c.123A>T	c.(121-123)GTA>GTT	p.V41V	UBA3_uc003dnq.2_Silent_p.V27V|UBA3_uc011bfy.1_5'UTR|UBA3_uc011bfz.1_5'UTR	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	41					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)										0.160173	62.493877	87.971161	37	194	KEEP	---	---	---	---	capture		Silent	SNP	69127009	69127009	17386	3	T	A	A	A	782	61	UBA3	3	3
VGLL3	389136	broad.mit.edu	37	3	87017782	87017782	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:87017782G>T	uc003dqn.2	-	c.895C>A	c.(895-897)CAT>AAT	p.H299N		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription regulator activity				0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)										0.223214	53.620432	61.514206	25	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87017782	87017782	17727	3	G	T	T	T	585	45	VGLL3	2	2
GPR15	2838	broad.mit.edu	37	3	98251773	98251773	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98251773C>A	uc011bgy.1	+	c.896C>A	c.(895-897)CCT>CAT	p.P299H		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	299	Helical; Name=7; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)										0.422886	236.642097	237.677567	85	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98251773	98251773	6930	3	C	A	A	A	312	24	GPR15	2	2
ANK2	287	broad.mit.edu	37	4	114274542	114274542	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114274542G>T	uc003ibe.3	+	c.4768G>T	c.(4768-4770)GAG>TAG	p.E1590*	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Nonsense_Mutation_p.E1605*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1557					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.123223	29.98901	59.312931	26	185	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	114274542	114274542	624	4	G	T	T	T	429	33	ANK2	5	2
FGA	2243	broad.mit.edu	37	4	155507348	155507348	+	Silent	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155507348G>C	uc003iod.1	-	c.1233C>G	c.(1231-1233)GGC>GGG	p.G411G	FGA_uc003ioe.1_Silent_p.G411G|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	411	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.163636	118.820523	154.270851	54	276	KEEP	---	---	---	---	capture		Silent	SNP	155507348	155507348	6067	4	G	C	C	C	587	46	FGA	3	3
TDO2	6999	broad.mit.edu	37	4	156828908	156828908	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156828908G>T	uc003ipf.1	+	c.267G>T	c.(265-267)GAG>GAT	p.E89D		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	89					oxidation-reduction process|tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	Colon(57;928 1036 2595 6946 26094)								0.10084	19.763163	57.5779	24	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156828908	156828908	16253	4	G	T	T	T	464	36	TDO2	2	2
MFAP3L	9848	broad.mit.edu	37	4	170913311	170913311	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170913311C>A	uc003isp.3	-	c.448G>T	c.(448-450)GGT>TGT	p.G150C	MFAP3L_uc003isn.3_Missense_Mutation_p.G47C	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	150	Helical; (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)										0.319797	168.954246	174.639663	63	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170913311	170913311	9906	4	C	A	A	A	286	22	MFAP3L	2	2
GALNTL6	442117	broad.mit.edu	37	4	173150846	173150846	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:173150846T>A	uc003isv.2	+	c.178T>A	c.(178-180)TGG>AGG	p.W60R		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	60	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.077778	0.256357	16.662013	7	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173150846	173150846	6489	4	T	A	A	A	663	51	GALNTL6	3	3
FAT1	2195	broad.mit.edu	37	4	187531125	187531125	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187531125C>A	uc003izf.2	-	c.9898G>T	c.(9898-9900)GAG>TAG	p.E3300*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3300	Extracellular (Potential).|Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.129032	20.217729	36.835371	16	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	187531125	187531125	5925	4	C	A	A	A	377	29	FAT1	5	2
WHSC1	7468	broad.mit.edu	37	4	1955058	1955058	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1955058C>G	uc003gdz.3	+	c.2145C>G	c.(2143-2145)CAC>CAG	p.H715Q	WHSC1_uc003geb.3_Missense_Mutation_p.H715Q|WHSC1_uc003gec.3_Missense_Mutation_p.H715Q|WHSC1_uc003ged.3_Missense_Mutation_p.H715Q|WHSC1_uc003gee.3_Non-coding_Transcript|WHSC1_uc003gef.3_Non-coding_Transcript|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.H63Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	715	PHD-type 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)						355				0.152542	60.311479	80.756894	27	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1955058	1955058	17936	4	C	G	G	G	259	20	WHSC1	3	3
OTOP1	133060	broad.mit.edu	37	4	4228436	4228436	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4228436G>C	uc003ghp.1	-	c.156C>G	c.(154-156)AGC>AGG	p.S52R		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	52					biomineral tissue development	extracellular space|integral to membrane				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.266667	11.195432	11.931672	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4228436	4228436	11717	4	G	C	C	C	490	38	OTOP1	3	3
KIAA1211	57482	broad.mit.edu	37	4	57164495	57164495	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57164495G>T	uc003hbk.2	+	c.100G>T	c.(100-102)GGC>TGC	p.G34C	KIAA1211_uc010iha.2_Missense_Mutation_p.W19C	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	34										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.139535	27.361641	43.55598	18	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57164495	57164495	8523	4	G	T	T	T	559	43	KIAA1211	2	2
PPEF2	5470	broad.mit.edu	37	4	76808028	76808028	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76808028C>T	uc003hix.2	-	c.556G>A	c.(556-558)GAC>AAC	p.D186N	PPEF2_uc003hiy.2_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.D186N	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	186	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			NSCLC(105;1359 1603 15961 44567 47947)								0.094118	4.834433	18.905202	8	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76808028	76808028	12738	4	C	T	T	T	377	29	PPEF2	2	2
PTPN13	5783	broad.mit.edu	37	4	87691257	87691257	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87691257G>T	uc003hpy.2	+	c.4723G>T	c.(4723-4725)GTC>TTC	p.V1575F	PTPN13_uc003hpz.2_Missense_Mutation_p.V1570F|PTPN13_uc003hqa.2_Missense_Mutation_p.V1551F|PTPN13_uc003hqb.2_Missense_Mutation_p.V1379F|PTPN13_uc003hqc.1_5'UTR	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1570	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.181818	17.081101	21.260065	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87691257	87691257	13237	4	G	T	T	T	468	36	PTPN13	2	2
PCDHA7	56141	broad.mit.edu	37	5	140216005	140216005	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140216005G>A	uc003lhq.2	+	c.2037G>A	c.(2035-2037)TCG>TCA	p.S679S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.S679S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	679	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.163265	12.675864	17.952796	8	41	KEEP	---	---	---	---	capture		Silent	SNP	140216005	140216005	11949	5	G	A	A	A	509	40	PCDHA7	1	1
PCDHB5	26167	broad.mit.edu	37	5	140516399	140516399	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140516399G>T	uc003liq.2	+	c.1383G>T	c.(1381-1383)GAG>GAT	p.E461D		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	461	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.305419	150.048548	156.922931	62	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140516399	140516399	11965	5	G	T	T	T	425	33	PCDHB5	2	2
PCDHB9	56127	broad.mit.edu	37	5	140568343	140568343	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140568343C>A	uc003liw.1	+	c.1452C>A	c.(1450-1452)GCC>GCA	p.A484A		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	484	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.262136	63.823619	69.069157	27	76	KEEP	---	---	---	---	capture		Silent	SNP	140568343	140568343	11969	5	C	A	A	A	286	22	PCDHB9	2	2
PCDHB12	56124	broad.mit.edu	37	5	140589765	140589765	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140589765C>A	uc003liz.2	+	c.1286C>A	c.(1285-1287)CCC>CAC	p.P429H	PCDHB12_uc011dak.1_Missense_Mutation_p.P92H	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	429	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.311321	85.42815	88.793595	33	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140589765	140589765	11957	5	C	A	A	A	286	22	PCDHB12	2	2
PCDHGA3	56112	broad.mit.edu	37	5	140724231	140724231	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140724231G>T	uc003ljm.1	+	c.631G>T	c.(631-633)GTC>TTC	p.V211F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.V211F	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	211	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.202703	32.780765	38.85942	15	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140724231	140724231	11975	5	G	T	T	T	624	48	PCDHGA3	2	2
KIF4B	285643	broad.mit.edu	37	5	154396718	154396718	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154396718G>A	uc010jih.1	+	c.3299G>A	c.(3298-3300)GGG>GAG	p.G1100E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1100	Interaction with PRC1 (By similarity).|Globular (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.141176	19.353448	29.822721	12	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154396718	154396718	8615	5	G	A	A	A	559	43	KIF4B	2	2
DOCK2	1794	broad.mit.edu	37	5	169143299	169143299	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169143299A>G	uc003maf.2	+	c.2024A>G	c.(2023-2025)GAT>GGT	p.D675G	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjm.2_Missense_Mutation_p.D167G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	675					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.065395	-14.705729	57.376713	24	343	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169143299	169143299	4871	5	A	G	G	G	156	12	DOCK2	4	4
ZNF354C	30832	broad.mit.edu	37	5	178503473	178503473	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178503473G>C	uc003mju.2	+	c.55G>C	c.(55-57)GTG>CTG	p.V19L		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)										0.270073	108.025535	114.552042	37	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178503473	178503473	18458	5	G	C	C	C	520	40	ZNF354C	3	3
ADAMTS2	9509	broad.mit.edu	37	5	178771087	178771087	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178771087G>A	uc003mjw.2	-	c.215C>T	c.(214-216)TCC>TTC	p.S72F	ADAMTS2_uc011dgm.1_Missense_Mutation_p.S72F	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	72					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.384615	14.872257	15.023878	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178771087	178771087	266	5	G	A	A	A	533	41	ADAMTS2	2	2
CDH6	1004	broad.mit.edu	37	5	31267788	31267788	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31267788G>T	uc003jhe.1	+	c.208G>T	c.(208-210)GAT>TAT	p.D70Y	CDH6_uc003jhd.1_Missense_Mutation_p.D70Y	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	70	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.16129	41.963064	58.901702	25	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31267788	31267788	3243	5	G	T	T	T	481	37	CDH6	1	1
C5orf42	65250	broad.mit.edu	37	5	37183248	37183248	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37183248C>T	uc011cpa.1	-	c.5035G>A	c.(5035-5037)GGT>AGT	p.G1679S	C5orf42_uc011coy.1_Missense_Mutation_p.G180S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.G754S|C5orf42_uc011cpb.1_Missense_Mutation_p.G560S	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	592										ovary(4)|breast(2)	6	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)											0.214286	43.765616	51.124787	21	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37183248	37183248	2399	5	C	T	T	T	273	21	C5orf42	2	2
ADCY2	108	broad.mit.edu	37	5	7626381	7626381	+	Silent	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7626381T>C	uc003jdz.1	+	c.672T>C	c.(670-672)TGT>TGC	p.C224C		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	224	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.277512	190.498349	199.782922	58	151	KEEP	---	---	---	---	capture		Silent	SNP	7626381	7626381	295	5	T	C	C	C	738	57	ADCY2	4	4
DMGDH	29958	broad.mit.edu	37	5	78359439	78359439	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78359439G>T	uc003kfs.2	-	c.273C>A	c.(271-273)CAC>CAA	p.H91Q	DMGDH_uc011ctf.1_Missense_Mutation_p.R47S|DMGDH_uc011ctg.1_Missense_Mutation_p.T17K	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	91					choline metabolic process|glycine catabolic process|oxidation-reduction process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)	3		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)										0.153226	36.3083	50.521904	19	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78359439	78359439	4761	5	G	T	T	T	516	40	DMGDH	1	1
BCLAF1	9774	broad.mit.edu	37	6	136597524	136597524	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136597524G>T	uc003qgx.1	-	c.1139C>A	c.(1138-1140)GCT>GAT	p.A380D	BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.A378D|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.A378D	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	380					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.028428	-118.880104	27.983953	17	581	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136597524	136597524	1404	6	G	T	T	T	442	34	BCLAF1	2	2
SHPRH	257218	broad.mit.edu	37	6	146234621	146234621	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146234621C>T	uc003qld.2	-	c.4331G>A	c.(4330-4332)GGA>GAA	p.G1444E	SHPRH_uc003qle.2_Missense_Mutation_p.G1444E|SHPRH_uc003qlf.2_Missense_Mutation_p.G1440E|SHPRH_uc003qlg.1_Missense_Mutation_p.G996E	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1440	RING-type.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)										0.051282	-16.415725	16.823796	8	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146234621	146234621	14786	6	C	T	T	T	390	30	SHPRH	2	2
SYNE1	23345	broad.mit.edu	37	6	152683397	152683397	+	Missense_Mutation	SNP	C	G	G	rs116758271	by1000genomes	TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152683397C>G	uc010kiw.2	-	c.10207G>C	c.(10207-10209)GGT>CGT	p.G3403R	SYNE1_uc003qot.3_Missense_Mutation_p.G3410R|SYNE1_uc003qou.3_Missense_Mutation_p.G3403R|SYNE1_uc010kja.1_Missense_Mutation_p.G108R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3403	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)										0.32	111.257361	114.855042	40	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152683397	152683397	15966	6	C	G	G	G	299	23	SYNE1	3	3
FNDC1	84624	broad.mit.edu	37	6	159653930	159653930	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159653930G>T	uc010kjv.2	+	c.2386G>T	c.(2386-2388)GAC>TAC	p.D796Y	FNDC1_uc010kjw.1_Missense_Mutation_p.D681Y	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	796						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)										0.388889	17.513309	17.710154	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159653930	159653930	6210	6	G	T	T	T	429	33	FNDC1	2	2
FAM120B	84498	broad.mit.edu	37	6	170627007	170627007	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170627007G>T	uc003qxp.2	+	c.529G>T	c.(529-531)GGG>TGG	p.G177W	FAM120B_uc003qxo.1_Missense_Mutation_p.G177W|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	177					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)										0.381443	101.442696	102.641164	37	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170627007	170627007	5614	6	G	T	T	T	559	43	FAM120B	2	2
KAAG1	353219	broad.mit.edu	37	6	24358006	24358006	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24358006G>T	uc003ndz.1	+	c.139G>T	c.(139-141)GCT>TCT	p.A47S	DCDC2_uc003ndx.2_5'UTR|DCDC2_uc003ndy.2_5'UTR	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	47					immune response						0														0.55	30.219861	30.263004	11	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24358006	24358006	8277	6	G	T	T	T	494	38	KAAG1	1	1
GRM4	2914	broad.mit.edu	37	6	34008347	34008347	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34008347G>T	uc003oir.3	-	c.1347C>A	c.(1345-1347)TAC>TAA	p.Y449*	GRM4_uc011dsn.1_Nonsense_Mutation_p.Y402*|GRM4_uc010jvh.2_Nonsense_Mutation_p.Y449*|GRM4_uc010jvi.2_Nonsense_Mutation_p.Y141*|GRM4_uc003oio.2_Nonsense_Mutation_p.Y141*|GRM4_uc003oip.2_Non-coding_Transcript|GRM4_uc011dsl.1_Nonsense_Mutation_p.Y309*|GRM4_uc003oiq.2_Nonsense_Mutation_p.Y316*|GRM4_uc011dsm.1_Nonsense_Mutation_p.Y280*	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	449	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.342857	36.095264	36.856022	12	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34008347	34008347	7078	6	G	T	T	T	620	48	GRM4	5	2
FAM83B	222584	broad.mit.edu	37	6	54805296	54805296	+	Silent	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54805296G>T	uc003pck.2	+	c.1527G>T	c.(1525-1527)CCG>CCT	p.P509P		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	509										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.19685	115.306045	137.05064	50	204	KEEP	---	---	---	---	capture		Silent	SNP	54805296	54805296	5860	6	G	T	T	T	496	39	FAM83B	1	1
PIK3CG	5294	broad.mit.edu	37	7	106509746	106509746	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106509746C>A	uc003vdv.3	+	c.1740C>A	c.(1738-1740)TAC>TAA	p.Y580*	PIK3CG_uc003vdu.2_Nonsense_Mutation_p.Y580*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.Y580*	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	580					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.380597	159.688875	161.365897	51	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	106509746	106509746	12340	7	C	A	A	A	246	19	PIK3CG	5	1
KLRG2	346689	broad.mit.edu	37	7	139164445	139164445	+	Silent	SNP	C	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139164445C>G	uc003vvb.2	-	c.933G>C	c.(931-933)GCG>GCC	p.A311A	KLRG2_uc010lnc.2_Intron	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	311	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)													0.136364	16.639646	25.081626	9	57	KEEP	---	---	---	---	capture		Silent	SNP	139164445	139164445	8736	7	C	G	G	G	340	27	KLRG2	3	3
KCNH2	3757	broad.mit.edu	37	7	150648009	150648009	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150648009C>A	uc003wic.2	-	c.2145G>T	c.(2143-2145)GCG>GCT	p.A715A	KCNH2_uc003wib.2_Silent_p.A375A|KCNH2_uc011kux.1_Silent_p.A619A|KCNH2_uc003wid.2_Silent_p.A375A|KCNH2_uc003wie.2_Silent_p.A715A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	715	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			ovary(1)|skin(1)	2	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GBM(137;110 1844 13671 20123 45161)				314				0.171429	12.22991	15.800506	6	29	KEEP	---	---	---	---	capture		Silent	SNP	150648009	150648009	8337	7	C	A	A	A	288	23	KCNH2	1	1
NOM1	64434	broad.mit.edu	37	7	156756633	156756633	+	Missense_Mutation	SNP	A	G	G	rs114916388	by1000genomes	TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:156756633A>G	uc003wmy.2	+	c.1946A>G	c.(1945-1947)CAG>CGG	p.Q649R	NOM1_uc010lqp.1_3'UTR	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	649					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)										0.490909	82.620781	82.624757	27	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156756633	156756633	10933	7	A	G	G	G	91	7	NOM1	4	4
IGF2BP3	10643	broad.mit.edu	37	7	23383342	23383342	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23383342T>G	uc003swg.2	-	c.1072A>C	c.(1072-1074)ATG>CTG	p.M358L	IGF2BP3_uc003swf.2_Intron	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	358					anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.240566	155.102801	168.065178	51	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23383342	23383342	7876	7	T	G	G	G	637	49	IGF2BP3	4	4
IGF2BP3	10643	broad.mit.edu	37	7	23385654	23385654	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23385654T>A	uc003swg.2	-	c.846A>T	c.(844-846)TTA>TTT	p.L282F	IGF2BP3_uc003swf.2_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	282	KH 2.				anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.219731	117.687525	133.798495	49	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23385654	23385654	7876	7	T	A	A	A	686	53	IGF2BP3	3	3
STK31	56164	broad.mit.edu	37	7	23826248	23826248	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23826248G>T	uc003sws.3	+	c.2396G>T	c.(2395-2397)TGT>TTT	p.C799F	STK31_uc003swt.3_Missense_Mutation_p.C776F|STK31_uc011jze.1_Missense_Mutation_p.C799F|STK31_uc010kuq.2_Missense_Mutation_p.C776F|STK31_uc003swv.1_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	799	Protein kinase.				protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.193548	70.96005	84.544637	30	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23826248	23826248	15816	7	G	T	T	T	624	48	STK31	2	2
CARD11	84433	broad.mit.edu	37	7	2954996	2954996	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2954996C>G	uc003smv.2	-	c.2714G>C	c.(2713-2715)AGG>ACG	p.R905T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	905					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.266667	21.385273	22.861426	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2954996	2954996	2764	7	C	G	G	G	312	24	CARD11	3	3
RADIL	55698	broad.mit.edu	37	7	4917468	4917468	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4917468G>A	uc003snj.1	-	c.303C>T	c.(301-303)GCC>GCT	p.A101A	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	101	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			central_nervous_system(2)|pancreas(2)|breast(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)										0.210526	17.069019	20.029921	8	30	KEEP	---	---	---	---	capture		Silent	SNP	4917468	4917468	13457	7	G	A	A	A	548	43	RADIL	2	2
SBDS	51119	broad.mit.edu	37	7	66456124	66456124	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:66456124G>A	uc003tvm.1	-	c.624C>T	c.(622-624)ATC>ATT	p.I208I		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	208					bone marrow development|bone mineralization|inner cell mass cell proliferation|learning|leukocyte chemotaxis|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|spindle pole	microtubule binding|rRNA binding			ovary(1)	1										219				0.129032	6.381929	10.532991	4	27	KEEP	---	---	---	---	capture		Silent	SNP	66456124	66456124	14338	7	G	A	A	A	473	37	SBDS	1	1
RP1L1	94137	broad.mit.edu	37	8	10467776	10467776	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10467776T>C	uc003wtc.2	-	c.3832A>G	c.(3832-3834)AGA>GGA	p.R1278G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1278					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.146552	35.420734	49.327519	17	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10467776	10467776	14012	8	T	C	C	C	726	56	RP1L1	4	4
RP1L1	94137	broad.mit.edu	37	8	10469612	10469612	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10469612T>A	uc003wtc.2	-	c.1996A>T	c.(1996-1998)AGG>TGG	p.R666W		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	666					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.373333	81.504297	82.551564	28	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10469612	10469612	14012	8	T	A	A	A	713	55	RP1L1	3	3
CSMD3	114788	broad.mit.edu	37	8	113516138	113516138	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113516138A>G	uc003ynu.2	-	c.4964T>C	c.(4963-4965)ATT>ACT	p.I1655T	CSMD3_uc003yns.2_Missense_Mutation_p.I927T|CSMD3_uc003ynt.2_Missense_Mutation_p.I1615T|CSMD3_uc011lhx.1_Missense_Mutation_p.I1551T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1655	Extracellular (Potential).|CUB 9.					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)			0.329825	306.486319	313.785216	94	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113516138	113516138	4087	8	A	G	G	G	52	4	CSMD3	4	4
PTK2B	2185	broad.mit.edu	37	8	27296831	27296831	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27296831G>T	uc003xfn.1	+	c.1750G>T	c.(1750-1752)GTG>TTG	p.V584L	PTK2B_uc003xfo.1_Missense_Mutation_p.V584L|PTK2B_uc003xfp.1_Missense_Mutation_p.V584L|PTK2B_uc003xfq.1_Missense_Mutation_p.V584L|PTK2B_uc003xfr.1_Missense_Mutation_p.V330L	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	584	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			ovary(1)|skin(1)	2		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)						347				0.373418	172.881279	175.105837	59	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27296831	27296831	13218	8	G	T	T	T	624	48	PTK2B	2	2
TEX15	56154	broad.mit.edu	37	8	30700236	30700236	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30700236G>T	uc003xil.2	-	c.6298C>A	c.(6298-6300)CCT>ACT	p.P2100T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2100										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.313433	53.547125	55.624783	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30700236	30700236	16306	8	G	T	T	T	533	41	TEX15	2	2
PURG	29942	broad.mit.edu	37	8	30889476	30889476	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30889476A>G	uc003xin.2	-	c.823T>C	c.(823-825)TAC>CAC	p.Y275H	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.Y275H	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	275	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)										0.34375	70.834428	72.21273	22	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30889476	30889476	13287	8	A	G	G	G	195	15	PURG	4	4
EFCAB1	79645	broad.mit.edu	37	8	49637302	49637302	+	Silent	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:49637302C>T	uc003xqo.2	-	c.635G>A	c.(634-636)TGA>TAA	p.*212*	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.*160*|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	212							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)												0.25	10.391648	11.301052	4	12	KEEP	---	---	---	---	capture		Silent	SNP	49637302	49637302	5120	8	C	T	T	T	376	29	EFCAB1	2	2
PXDNL	137902	broad.mit.edu	37	8	52387683	52387683	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52387683G>A	uc003xqu.3	-	c.543C>T	c.(541-543)GCC>GCT	p.A181A		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	181	LRRCT.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.2	23.424989	27.607614	10	40	KEEP	---	---	---	---	capture		Silent	SNP	52387683	52387683	13306	8	G	A	A	A	548	43	PXDNL	2	2
PSKH2	85481	broad.mit.edu	37	8	87076698	87076698	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87076698G>C	uc011lfy.1	-	c.348C>G	c.(346-348)AGC>AGG	p.S116R		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	116	Protein kinase.		S -> I (in a lung adenocarcinoma sample; somatic mutation).		protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3			STAD - Stomach adenocarcinoma(118;0.129)							100				0.148936	36.62645	53.43453	21	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87076698	87076698	13118	8	G	C	C	C	542	42	PSKH2	3	3
SLC26A7	115111	broad.mit.edu	37	8	92406445	92406445	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92406445G>T	uc003yez.2	+	c.1936_splice	c.e19-1	p.A646_splice	SLC26A7_uc003yex.2_Intron|SLC26A7_uc003yey.2_Intron|SLC26A7_uc003yfa.2_Intron	NM_134266	NP_599028			solute carrier family 26, member 7 isoform b							basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)											0.162162	30.572431	42.62712	18	93	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	92406445	92406445	15019	8	G	T	T	T	455	35	SLC26A7	5	2
KIAA1429	25962	broad.mit.edu	37	8	95543256	95543256	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95543256C>A	uc003ygo.1	-	c.542G>T	c.(541-543)GGA>GTA	p.G181V	KIAA1429_uc003ygp.2_Missense_Mutation_p.G181V	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	181	Pro-rich.				mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)											0.326087	105.289189	109.012634	45	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95543256	95543256	8540	8	C	A	A	A	390	30	KIAA1429	2	2
IKBKAP	8518	broad.mit.edu	37	9	111689661	111689661	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:111689661G>A	uc004bdm.3	-	c.376C>T	c.(376-378)CTT>TTT	p.L126F	IKBKAP_uc011lwc.1_Missense_Mutation_p.L12F|IKBKAP_uc010mtq.2_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	126					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|breast(1)|kidney(1)	6														0.289256	98.566462	103.38969	35	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111689661	111689661	7911	9	G	A	A	A	429	33	IKBKAP	2	2
SVEP1	79987	broad.mit.edu	37	9	113275213	113275213	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113275213G>T	uc010mtz.2	-	c.1296C>A	c.(1294-1296)TAC>TAA	p.Y432*	SVEP1_uc010mua.1_Nonsense_Mutation_p.Y432*|SVEP1_uc004beu.2_Nonsense_Mutation_p.Y432*|SVEP1_uc004bev.2_Nonsense_Mutation_p.Y176*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	432	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.351955	181.576704	185.034439	63	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113275213	113275213	15940	9	G	T	T	T	464	36	SVEP1	5	2
ZNF618	114991	broad.mit.edu	37	9	116750742	116750742	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116750742G>A	uc004bid.2	+	c.219G>A	c.(217-219)GAG>GAA	p.E73E	ZNF618_uc004bib.1_Silent_p.E73E|ZNF618_uc004bic.2_Silent_p.E73E|ZNF618_uc011lxi.1_Silent_p.E73E|ZNF618_uc011lxj.1_Silent_p.E73E	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.305556	65.328874	67.753525	22	50	KEEP	---	---	---	---	capture		Silent	SNP	116750742	116750742	18637	9	G	A	A	A	451	35	ZNF618	2	2
GFI1B	8328	broad.mit.edu	37	9	135863743	135863743	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135863743A>T	uc004ccg.2	+	c.398A>T	c.(397-399)CAC>CTC	p.H133L	GFI1B_uc010mzy.2_Missense_Mutation_p.H133L	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	133	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription, DNA-dependent	nucleus	DNA binding|protein binding|specific RNA polymerase II transcription factor activity|zinc ion binding			large_intestine(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)										0.444444	53.484101	53.605965	20	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135863743	135863743	6608	9	A	T	T	T	78	6	GFI1B	3	3
AQP7	364	broad.mit.edu	37	9	33386084	33386084	+	Silent	SNP	G	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:33386084G>A	uc003zst.2	-	c.516C>T	c.(514-516)TTC>TTT	p.F172F	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.F115F|AQP7_uc010mjs.2_Silent_p.F80F|AQP7_uc010mjt.2_Silent_p.F80F|AQP7_uc011lnx.1_Silent_p.F172F|AQP7_uc011lny.1_Silent_p.F171F|AQP7_uc003zss.3_Silent_p.F80F|AQP7_uc011lnz.1_Silent_p.F80F|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	172	Helical; (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)										0.154545	31.576929	44.062821	17	93	KEEP	---	---	---	---	capture		Silent	SNP	33386084	33386084	842	9	G	A	A	A	529	41	AQP7	2	2
SIGMAR1	10280	broad.mit.edu	37	9	34635808	34635808	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34635808C>T	uc003zvb.2	-	c.493G>A	c.(493-495)GGG>AGG	p.G165R	SIGMAR1_uc003zva.3_Missense_Mutation_p.G145R|SIGMAR1_uc003zuz.2_Missense_Mutation_p.G76R|SIGMAR1_uc003zvc.2_Missense_Mutation_p.G134R|SIGMAR1_uc003zvd.2_Non-coding_Transcript|SIGMAR1_uc011loo.1_Intron	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	165	Cytoplasmic (Potential).				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding				0					Dextromethorphan(DB00514)									0.38	57.71461	58.345498	19	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34635808	34635808	14811	9	C	T	T	T	286	22	SIGMAR1	2	2
FRMPD1	22844	broad.mit.edu	37	9	37732384	37732384	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37732384G>T	uc004aag.1	+	c.942G>T	c.(940-942)CAG>CAT	p.Q314H	FRMPD1_uc004aah.1_Missense_Mutation_p.Q314H|FRMPD1_uc011lqm.1_Missense_Mutation_p.Q136H|FRMPD1_uc011lqn.1_Missense_Mutation_p.Q183H	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	314	FERM.					cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.128571	10.225245	19.639176	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37732384	37732384	6307	9	G	T	T	T	451	35	FRMPD1	2	2
DOCK8	81704	broad.mit.edu	37	9	432259	432259	+	Silent	SNP	T	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:432259T>C	uc003zgf.2	+	c.4720T>C	c.(4720-4722)TTG>CTG	p.L1574L	DOCK8_uc010mgu.2_Silent_p.L876L|DOCK8_uc010mgv.2_Silent_p.L1474L|DOCK8_uc003zgk.2_Silent_p.L1032L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1574	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)										0.220339	36.043026	40.291406	13	46	KEEP	---	---	---	---	capture		Silent	SNP	432259	432259	4877	9	T	C	C	C	725	56	DOCK8	4	4
DIRAS2	54769	broad.mit.edu	37	9	93375674	93375674	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:93375674C>A	uc004aqx.1	-	c.436G>T	c.(436-438)GCC>TCC	p.A146S		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	146					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0														0.293103	88.604111	93.050697	34	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93375674	93375674	4710	9	C	A	A	A	325	25	DIRAS2	2	2
CLCN4	1183	broad.mit.edu	37	X	10181882	10181882	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:10181882G>T	uc004csy.3	+	c.1738G>T	c.(1738-1740)GGG>TGG	p.G580W	CLCN4_uc011mid.1_Missense_Mutation_p.G486W	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	580	Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)	4						Melanoma(74;1050 1296 1576 30544 38374)								0.12844	19.669365	34.337273	14	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10181882	10181882	3601	23	G	T	T	T	611	47	CLCN4	2	2
NRK	203447	broad.mit.edu	37	X	105197057	105197057	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105197057G>T	uc004emd.2	+	c.4545G>T	c.(4543-4545)TGG>TGT	p.W1515C	NRK_uc011msi.1_Missense_Mutation_p.W96C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1515	CNH.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.228571	17.979595	20.34689	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105197057	105197057	11060	23	G	T	T	T	559	43	NRK	2	2
TLR7	51284	broad.mit.edu	37	X	12904932	12904932	+	Silent	SNP	T	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12904932T>A	uc004cvc.2	+	c.1305T>A	c.(1303-1305)CCT>CCA	p.P435P		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	435	Extracellular (Potential).|LRR 15.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(1)	1					Imiquimod(DB00724)					69				0.101227	22.936661	74.694646	33	293	KEEP	---	---	---	---	capture		Silent	SNP	12904932	12904932	16486	23	T	A	A	A	717	56	TLR7	3	3
GLRA2	2742	broad.mit.edu	37	X	14748434	14748434	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14748434C>A	uc010nep.2	+	c.1186C>A	c.(1186-1188)CCA>ACA	p.P396T	GLRA2_uc010neq.2_Missense_Mutation_p.P396T|GLRA2_uc004cwe.3_Missense_Mutation_p.P396T|GLRA2_uc011mio.1_Missense_Mutation_p.P307T|GLRA2_uc011mip.1_Missense_Mutation_p.P374T	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	396	Cytoplasmic (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)									0.235556	113.679769	128.159229	53	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14748434	14748434	6723	23	C	A	A	A	286	22	GLRA2	2	2
TKTL1	8277	broad.mit.edu	37	X	153541038	153541038	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153541038C>A	uc004fkg.2	+	c.778C>A	c.(778-780)CCA>ACA	p.P260T	TKTL1_uc011mzl.1_Missense_Mutation_p.P254T|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.P204T	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	260					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.340426	87.171917	89.287262	32	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153541038	153541038	16464	23	C	A	A	A	286	22	TKTL1	2	2
MAP7D2	256714	broad.mit.edu	37	X	20082923	20082923	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:20082923C>G	uc010nfo.1	-	c.131G>C	c.(130-132)GGC>GCC	p.G44A	MAP7D2_uc011mji.1_5'UTR|MAP7D2_uc004czr.1_Missense_Mutation_p.G44A|MAP7D2_uc011mjj.1_Missense_Mutation_p.G44A|MAP7D2_uc004czs.1_5'UTR	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	44										ovary(2)|breast(1)	3														0.155224	112.897231	150.922576	52	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20082923	20082923	9651	23	C	G	G	G	338	26	MAP7D2	3	3
MAGEB6	158809	broad.mit.edu	37	X	26212996	26212996	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:26212996C>A	uc004dbr.2	+	c.1033C>A	c.(1033-1035)CGG>AGG	p.R345R	MAGEB6_uc010ngc.1_Silent_p.R125R	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	345	MAGE.									ovary(3)	3														0.244444	119.896868	130.548799	44	136	KEEP	---	---	---	---	capture		Silent	SNP	26212996	26212996	9560	23	C	A	A	A	295	23	MAGEB6	1	1
MXRA5	25878	broad.mit.edu	37	X	3242840	3242840	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3242840G>C	uc004crg.3	-	c.886C>G	c.(886-888)CAA>GAA	p.Q296E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	296						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.16129	63.48253	83.744118	30	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3242840	3242840	10397	23	G	C	C	C	598	46	MXRA5	3	3
GPR34	2857	broad.mit.edu	37	X	41555023	41555023	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41555023G>T	uc004dfp.3	+	c.137G>T	c.(136-138)TGT>TTT	p.C46F	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.C46F|GPR34_uc010nhg.2_Missense_Mutation_p.C46F|GPR34_uc004dfr.3_Missense_Mutation_p.C46F	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	46	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1														0.290598	95.502923	100.099456	34	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41555023	41555023	6964	23	G	T	T	T	624	48	GPR34	2	2
SLC38A5	92745	broad.mit.edu	37	X	48318013	48318013	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48318013G>T	uc010nid.2	-	c.1226C>A	c.(1225-1227)GCC>GAC	p.A409D	SLC38A5_uc004djk.3_Missense_Mutation_p.A358D	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	409	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3														0.1875	14.336007	18.746705	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48318013	48318013	15104	23	G	T	T	T	546	42	SLC38A5	2	2
WAS	7454	broad.mit.edu	37	X	48546713	48546713	+	Silent	SNP	C	A	A			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48546713C>A	uc004dkm.3	+	c.802C>A	c.(802-804)CGG>AGG	p.R268R		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	268					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)							p.R268W(HEC1A-Tumor)	57				0.195652	13.824798	17.834229	9	37	KEEP	---	---	---	---	capture		Silent	SNP	48546713	48546713	17823	23	C	A	A	A	347	27	WAS	1	1
ZC3H12B	340554	broad.mit.edu	37	X	64722402	64722402	+	Silent	SNP	C	T	T			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:64722402C>T	uc010nko.2	+	c.1791C>T	c.(1789-1791)ACC>ACT	p.T597T		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	597							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3														0.435897	53.869498	54.009201	17	22	KEEP	---	---	---	---	capture		Silent	SNP	64722402	64722402	18150	23	C	T	T	T	275	22	ZC3H12B	2	2
CPEB3	22849	broad.mit.edu	37	10	93999919	93999920	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93999919_93999920insG	uc001khu.1	-	c.188_189insC	c.(187-189)CCGfs	p.P63fs	CPEB3_uc001khv.1_Frame_Shift_Ins_p.P63fs|CPEB3_uc001khw.1_Frame_Shift_Ins_p.P63fs|CPEB3_uc010qnn.1_Frame_Shift_Ins_p.P63fs	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	63	Pro-rich.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)												0.43			3	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	93999919	93999920	3940	10	-	G	G	G	288	23	CPEB3	5	5
MICAL3	57553	broad.mit.edu	37	22	18300931	18300932	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18300931_18300932insG	uc002zng.3	-	c.4495_4496insC	c.(4495-4497)CGGfs	p.R1499fs	MICAL3_uc011agl.1_Frame_Shift_Ins_p.R1415fs|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1499	Pro-rich.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	18300931	18300932	9961	22	-	G	G	G	299	23	MICAL3	5	5
ADRB3	155	broad.mit.edu	37	8	37823031	37823032	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37823031_37823032insC	uc003xkr.1	-	c.956_957insG	c.(955-957)GGCfs	p.G319fs		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	319	Extracellular (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity				0	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)									0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	37823031	37823032	343	8	-	C	C	C	535	42	ADRB3	5	5
SATL1	340562	broad.mit.edu	37	X	84363285	84363285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z060-01	TCGA-17-Z060-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84363285_84363285delT	uc011mqx.1	-	c.690_690delA	c.(688-690)CAAfs	p.Q230fs	SATL1_uc004een.2_Frame_Shift_Del_p.Q230fs	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	43	Gln-rich.						N-acetyltransferase activity			breast(2)	2														0.31			54	119		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	84363285	84363285	14336	23	T	-	-	-	777	60	SATL1	5	5
