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
NFKB2	4791	broad.mit.edu	37	10	104156244	104156244	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104156244C>T	uc001kvb.2	+	c.142C>T	c.(142-144)CAG>TAG	p.Q48*	NFKB2_uc001kva.2_Nonsense_Mutation_p.Q48*|NFKB2_uc010qqk.1_Nonsense_Mutation_p.Q48*|NFKB2_uc001kvd.2_Nonsense_Mutation_p.Q48*|NFKB2_uc009xxc.2_Nonsense_Mutation_p.Q48*	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	48	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)						140				0.9	29.220346	30.579155	9	1	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	104156244	104156244	10776	10	C	T	T	T	325	25	NFKB2	5	2
C10orf71	118461	broad.mit.edu	37	10	50532448	50532448	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50532448G>T	uc010qgp.1	+	c.1858G>T	c.(1858-1860)GAA>TAA	p.E620*		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	620											0														0.472222	48.769372	48.793697	17	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50532448	50532448	1651	10	G	T	T	T	533	41	C10orf71	5	2
PGBD3	267004	broad.mit.edu	37	10	50723381	50723381	+	Nonstop_Mutation	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50723381A>G	uc009xoe.2	-	c.3184T>C	c.(3184-3186)TAG>CAG	p.*1062Q	ERCC6_uc001jhs.3_Intron|PGBD3_uc001jht.2_Nonstop_Mutation_p.*594Q|PGBD3_uc001jhu.2_Nonstop_Mutation_p.*1062Q	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	1062										breast(1)|pancreas(1)	2										5				0.925	143.812611	150.125689	37	3	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	50723381	50723381	12205	10	A	G	G	G	208	16	PGBD3	5	4
OR4A15	81328	broad.mit.edu	37	11	55135668	55135668	+	Silent	SNP	T	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135668T>C	uc010rif.1	+	c.309T>C	c.(307-309)ACT>ACC	p.T103T		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	103	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.894737	289.125907	303.831104	85	10	KEEP	---	---	---	---	capture		Silent	SNP	55135668	55135668	11446	11	T	C	C	C	704	55	OR4A15	4	4
OR4C15	81309	broad.mit.edu	37	11	55322231	55322231	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55322231G>C	uc010rig.1	+	c.449G>C	c.(448-450)TGC>TCC	p.C150S		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.932203	410.141334	430.157011	110	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55322231	55322231	11454	11	G	C	C	C	598	46	OR4C15	3	3
DLG2	1740	broad.mit.edu	37	11	83544765	83544765	+	Silent	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:83544765G>A	uc001pak.2	-	c.1614C>T	c.(1612-1614)TTC>TTT	p.F538F	DLG2_uc001pai.2_Silent_p.F330F|DLG2_uc010rsy.1_Silent_p.F400F|DLG2_uc001paj.2_Silent_p.F433F|DLG2_uc010rsz.1_Silent_p.F433F|DLG2_uc010rta.1_Silent_p.F433F|DLG2_uc010rtb.1_Silent_p.F400F|DLG2_uc001pal.1_Silent_p.F433F|DLG2_uc001pam.1_Silent_p.F472F	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	433	PDZ 3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.431579	119.73309	120.12538	41	54	KEEP	---	---	---	---	capture		Silent	SNP	83544765	83544765	4735	11	G	A	A	A	581	45	DLG2	2	2
FAT3	120114	broad.mit.edu	37	11	92533300	92533300	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92533300T>G	uc001pdj.3	+	c.7121T>G	c.(7120-7122)CTG>CGG	p.L2374R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2374	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.4	56.160097	56.604786	20	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92533300	92533300	5927	11	T	G	G	G	715	55	FAT3	4	4
HCFC2	29915	broad.mit.edu	37	12	104481775	104481775	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104481775G>A	uc001tkj.3	+	c.1243G>A	c.(1243-1245)GAC>AAC	p.D415N	HCFC2_uc009zul.2_Intron	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	415	Fibronectin type-III 1.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						Esophageal Squamous(184;1814 2036 4771 6974 15702)								0.113636	5.644725	12.122715	5	39	FSTAR-RETAIN	---	---	---	---	capture		Missense_Mutation	SNP	104481775	104481775	7275	12	G	A	A	A	533	41	HCFC2	2	2
LHX5	64211	broad.mit.edu	37	12	113909204	113909204	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113909204C>A	uc001tvj.1	-	c.100G>T	c.(100-102)GAG>TAG	p.E34*		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	34	LIM zinc-binding 1.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0														0.157895	6.513892	8.633023	3	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113909204	113909204	9100	12	C	A	A	A	403	31	LHX5	5	1
ERC1	23085	broad.mit.edu	37	12	1289831	1289831	+	Silent	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1289831C>T	uc001qjb.2	+	c.1863C>T	c.(1861-1863)GCC>GCT	p.A621A	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.A593A|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.A621A|ERC1_uc010sdv.1_Silent_p.A369A|ERC1_uc009zdp.2_Silent_p.A261A	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	621	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(1)	3	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)							378				0.931034	182.320891	192.323653	54	4	KEEP	---	---	---	---	capture		Silent	SNP	1289831	1289831	5403	12	C	T	T	T	275	22	ERC1	2	2
SYT10	341359	broad.mit.edu	37	12	33579379	33579379	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33579379A>T	uc001rll.1	-	c.203T>A	c.(202-204)TTG>TAG	p.L68*	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	68	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.94	162.571415	169.27657	47	3	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33579379	33579379	15987	12	A	T	T	T	65	5	SYT10	5	3
KRT71	112802	broad.mit.edu	37	12	52943945	52943945	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52943945T>G	uc001sao.2	-	c.524A>C	c.(523-525)AAC>ACC	p.N175T		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	175	Linker 1.|Rod.						structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.194)										0.941176	447.131526	463.850956	128	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52943945	52943945	8799	12	T	G	G	G	780	60	KRT71	4	4
KCNH5	27133	broad.mit.edu	37	14	63174557	63174557	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63174557C>G	uc001xfx.2	-	c.2636G>C	c.(2635-2637)GGG>GCG	p.G879A	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	879	Cytoplasmic (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)										0.363636	104.03795	105.630783	36	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63174557	63174557	8340	14	C	G	G	G	286	22	KCNH5	3	3
TSHR	7253	broad.mit.edu	37	14	81574763	81574763	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81574763C>A	uc001xvd.1	+	c.659C>A	c.(658-660)GCA>GAA	p.A220E	TSHR_uc001xvb.1_Missense_Mutation_p.A220E|TSHR_uc001xvc.2_Missense_Mutation_p.A220E|TSHR_uc010tvs.1_Missense_Mutation_p.A220E	NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	220	Extracellular (Potential).|LRR 5.				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)	298				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)					868				0.306452	106.00207	110.145053	38	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81574763	81574763	17173	14	C	A	A	A	325	25	TSHR	2	2
SMG1	23049	broad.mit.edu	37	16	18883895	18883895	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18883895T>C	uc002dfm.2	-	c.1942A>G	c.(1942-1944)ATT>GTT	p.I648V	SMG1_uc010bwb.2_Missense_Mutation_p.I508V	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	648					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.235294	10.19174	11.280894	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18883895	18883895	15293	16	T	C	C	C	650	50	SMG1	4	4
CLDN9	9080	broad.mit.edu	37	16	3063820	3063820	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3063820G>C	uc010uwo.1	+	c.457G>C	c.(457-459)GCT>CCT	p.A153P		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	153	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.692308	32.289943	32.730808	9	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3063820	3063820	3629	16	G	C	C	C	546	42	CLDN9	3	3
NCOR1	9611	broad.mit.edu	37	17	16052788	16052788	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16052788T>C	uc002gpo.2	-	c.886A>G	c.(886-888)AGA>GGA	p.R296G	NCOR1_uc002gpn.2_Missense_Mutation_p.R296G|NCOR1_uc002gpp.1_Missense_Mutation_p.R187G|NCOR1_uc002gpr.2_Missense_Mutation_p.R187G|NCOR1_uc002gps.1_Missense_Mutation_p.R305G|NCOR1_uc010coz.1_Missense_Mutation_p.R112G|NCOR1_uc010cpb.1_Missense_Mutation_p.R305G|NCOR1_uc010cpa.1_Missense_Mutation_p.R296G	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	296	Interaction with SIN3A/B.|Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade|regulation of fatty acid transport|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	spindle microtubule|transcriptional repressor complex	histone deacetylase binding|promoter binding|transcription corepressor activity			ovary(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)										0.956522	172.633774	177.116776	44	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16052788	16052788	10634	17	T	C	C	C	726	56	NCOR1	4	4
NF1	4763	broad.mit.edu	37	17	29664521	29664521	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29664521C>T	uc002hgg.2	+	c.6563C>T	c.(6562-6564)TCT>TTT	p.S2188F	NF1_uc002hgh.2_Missense_Mutation_p.S2167F|NF1_uc010cso.2_Missense_Mutation_p.S376F|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2188					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.E2143_S2180del(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.98	183.190415	185.339777	49	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29664521	29664521	10756	17	C	T	T	T	416	32	NF1	2	2
SLFN5	162394	broad.mit.edu	37	17	33592660	33592660	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33592660C>A	uc002hjf.3	+	c.2429C>A	c.(2428-2430)GCA>GAA	p.A810E	SLFN5_uc010wcg.1_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	810					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)										0.146341	9.318498	14.255138	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33592660	33592660	15235	17	C	A	A	A	325	25	SLFN5	2	2
ASGR2	433	broad.mit.edu	37	17	7004973	7004973	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7004973C>T	uc002gep.3	-	c.857G>A	c.(856-858)CGC>CAC	p.R286H	ASGR2_uc010vtk.1_Missense_Mutation_p.R123H|ASGR2_uc002gem.1_Missense_Mutation_p.R225H|ASGR2_uc002gen.1_Missense_Mutation_p.R267H|ASGR2_uc002geo.1_Missense_Mutation_p.R281H|ASGR2_uc002ger.3_Missense_Mutation_p.R286H|ASGR2_uc002geq.3_Missense_Mutation_p.R262H	NM_001181	NP_001172	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2 isoform a	286	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			ovary(1)	1					Antihemophilic Factor(DB00025)									0.927083	298.089435	313.349803	89	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7004973	7004973	1059	17	C	T	T	T	351	27	ASGR2	1	1
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577114C>A	uc002gim.2	-	c.824G>T	c.(823-825)TGT>TTT	p.C275F	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C275F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143F|TP53_uc010cng.1_Missense_Mutation_p.C143F|TP53_uc002gii.1_Missense_Mutation_p.C143F|TP53_uc010cnh.1_Missense_Mutation_p.C275F|TP53_uc010cni.1_Missense_Mutation_p.C275F|TP53_uc002gij.2_Missense_Mutation_p.C275F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	275	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(44)|p.C275F(31)|p.0?(6)|p.C275S(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.C275Y(GI1-Tumor)|p.C275F(CHAGOK1-Tumor)|p.V274fs(SCC9-Tumor)|p.C275F(JHOM2B-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.934426	189.586588	199.956902	57	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577114	7577114	16923	17	C	A	A	A	221	17	TP53	2	2
RAX	30062	broad.mit.edu	37	18	56939654	56939654	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56939654G>T	uc002lhx.2	-	c.482C>A	c.(481-483)CCG>CAG	p.P161Q	RAX_uc010dpp.2_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	161	Homeobox.				regulation of transcription, DNA-dependent|visual perception	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GBM(150;770 1898 17679 24325 37807)								0.907692	202.317453	213.061995	59	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56939654	56939654	13557	18	G	T	T	T	507	39	RAX	1	1
ELAVL3	1995	broad.mit.edu	37	19	11577474	11577474	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11577474C>T	uc002mry.1	-	c.178G>A	c.(178-180)GGC>AGC	p.G60S	ELAVL3_uc002mrx.1_Missense_Mutation_p.G60S	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	60	RRM 1.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)	2														0.96748	444.440242	451.106045	119	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11577474	11577474	5242	19	C	T	T	T	299	23	ELAVL3	1	1
NR1H2	7376	broad.mit.edu	37	19	50883110	50883110	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50883110A>G	uc010enw.2	+	c.1004A>G	c.(1003-1005)TAC>TGC	p.Y335C	NR1H2_uc002prv.3_Non-coding_Transcript|NR1H2_uc002prz.3_Missense_Mutation_p.Y290C|NR1H2_uc002psa.3_Missense_Mutation_p.Y237C	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	334	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage derived foam cell differentiation|negative regulation of pinocytosis|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of lipoprotein lipase activity|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)						464				0.53125	116.9562	117.010861	34	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50883110	50883110	11022	19	A	G	G	G	182	14	NR1H2	4	4
CNOT3	4849	broad.mit.edu	37	19	54652228	54652228	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54652228A>C	uc002qdj.1	+	c.1240A>C	c.(1240-1242)AGC>CGC	p.S414R	CNOT3_uc010yel.1_Missense_Mutation_p.S414R|CNOT3_uc002qdi.2_Missense_Mutation_p.S327R|CNOT3_uc002qdk.1_Missense_Mutation_p.S414R|CNOT3_uc010ere.1_Non-coding_Transcript|CNOT3_uc002qdl.2_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	414	Gly/Ser-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding|transcription regulator activity			ovary(2)	2	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.333333	22.163062	22.828749	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54652228	54652228	3758	19	A	C	C	C	91	7	CNOT3	4	4
MYO1F	4542	broad.mit.edu	37	19	8595413	8595413	+	Silent	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8595413A>G	uc002mkg.2	-	c.2088T>C	c.(2086-2088)TTT>TTC	p.F696F		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	696	IQ.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)	2														0.453202	293.875145	294.261837	92	111	KEEP	---	---	---	---	capture		Silent	SNP	8595413	8595413	10468	19	A	G	G	G	63	5	MYO1F	4	4
ADAM15	8751	broad.mit.edu	37	1	155030756	155030756	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155030756G>C	uc001fgr.1	+	c.1756G>C	c.(1756-1758)GGT>CGT	p.G586R	ADAM15_uc001fgq.1_Missense_Mutation_p.G271R|ADAM15_uc010pet.1_Missense_Mutation_p.G570R|ADAM15_uc010peu.1_Missense_Mutation_p.G603R|ADAM15_uc001fgt.1_Missense_Mutation_p.G586R|ADAM15_uc010pev.1_Missense_Mutation_p.G596R|ADAM15_uc001fgs.1_Missense_Mutation_p.G586R|ADAM15_uc001fgu.1_Missense_Mutation_p.G586R|ADAM15_uc001fgw.1_Missense_Mutation_p.G586R|ADAM15_uc001fgv.1_Missense_Mutation_p.G586R|ADAM15_uc001fgx.1_Missense_Mutation_p.G586R|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fhb.1_5'UTR	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	586	Extracellular (Potential).|Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)											0.575758	59.226236	59.390926	19	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155030756	155030756	238	1	G	C	C	C	455	35	ADAM15	3	3
ASPM	259266	broad.mit.edu	37	1	197057474	197057474	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197057474C>T	uc001gtu.2	-	c.10073G>A	c.(10072-10074)GGT>GAT	p.G3358D	ASPM_uc001gtv.2_Missense_Mutation_p.G1773D|ASPM_uc001gtw.3_Missense_Mutation_p.G1206D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3358					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.946429	184.640827	192.29296	53	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197057474	197057474	1075	1	C	T	T	T	234	18	ASPM	2	2
DTL	51514	broad.mit.edu	37	1	212273760	212273760	+	Silent	SNP	C	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:212273760C>G	uc009xdc.2	+	c.1428C>G	c.(1426-1428)GCC>GCG	p.A476A	DTL_uc010ptb.1_Silent_p.A434A|DTL_uc001hiz.3_Silent_p.A205A	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	476					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)										0.9	204.474453	215.715731	63	7	KEEP	---	---	---	---	capture		Silent	SNP	212273760	212273760	4972	1	C	G	G	G	275	22	DTL	3	3
ZBTB40	9923	broad.mit.edu	37	1	22852714	22852714	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22852714C>T	uc001bft.2	+	c.3545C>T	c.(3544-3546)CCG>CTG	p.P1182L	ZBTB40_uc001bfu.2_Missense_Mutation_p.P1182L|ZBTB40_uc009vqi.1_Missense_Mutation_p.P1070L	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)										0.5	38.599306	38.599306	12	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22852714	22852714	18128	1	C	T	T	T	299	23	ZBTB40	1	1
DISC1	27185	broad.mit.edu	37	1	231954127	231954127	+	Silent	SNP	A	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231954127A>T	uc001huz.2	+	c.1845A>T	c.(1843-1845)ACA>ACT	p.T615T	TSNAX-DISC1_uc010pwg.1_Silent_p.T604T|TSNAX-DISC1_uc010pwh.1_Silent_p.T570T|TSNAX-DISC1_uc010pwi.1_Silent_p.T570T|TSNAX-DISC1_uc010pwj.1_Silent_p.T604T|TSNAX-DISC1_uc010pwk.1_3'UTR|TSNAX-DISC1_uc010pwl.1_Non-coding_Transcript|DISC1_uc010pwr.1_Silent_p.T615T|DISC1_uc010pws.1_3'UTR|DISC1_uc010pwt.1_3'UTR|DISC1_uc010pwu.1_3'UTR|DISC1_uc010pwv.1_Non-coding_Transcript|DISC1_uc010pww.1_Silent_p.T615T|DISC1_uc010pwx.1_Non-coding_Transcript|DISC1_uc010pwy.1_Non-coding_Transcript|DISC1_uc010pwz.1_Non-coding_Transcript|DISC1_uc010pxa.1_Non-coding_Transcript|DISC1_uc001huy.2_Silent_p.T615T|DISC1_uc010pxb.1_Silent_p.T615T|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Silent_p.T260T|DISC1_uc010pxe.1_Silent_p.T615T|DISC1_uc009xfr.2_Silent_p.T570T|DISC1_uc010pxf.1_Silent_p.T615T|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Silent_p.T647T|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Silent_p.T260T|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.1_Silent_p.T493T|DISC1_uc010pxn.1_Silent_p.T260T|DISC1_uc001hva.2_Silent_p.T615T|DISC2_uc001hvd.2_Non-coding_Transcript	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	615	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Interaction with ATF4 and ATF5.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding				0		all_cancers(173;0.0208)|Prostate(94;0.0975)												0.113924	12.318679	23.929403	9	70	KEEP	---	---	---	---	capture		Silent	SNP	231954127	231954127	4717	1	A	T	T	T	93	8	DISC1	3	3
PLK3	1263	broad.mit.edu	37	1	45270161	45270161	+	Nonsense_Mutation	SNP	C	A	A	rs17880829		TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45270161C>A	uc001cmn.2	+	c.1493C>A	c.(1492-1494)TCG>TAG	p.S498*	PLK3_uc001cmo.2_Non-coding_Transcript	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	498	POLO box 1.				protein phosphorylation	membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)									186				0.875	121.352609	126.849133	35	5	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45270161	45270161	12523	1	C	A	A	A	403	31	PLK3	5	1
LRRC7	57554	broad.mit.edu	37	1	70300480	70300480	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70300480C>G	uc001dep.2	+	c.404C>G	c.(403-405)ACA>AGA	p.T135R	LRRC7_uc001deo.1_Missense_Mutation_p.T173R|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	135	LRR 5.					centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.847826	144.254868	149.582177	39	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70300480	70300480	9396	1	C	G	G	G	221	17	LRRC7	3	3
ERGIC3	51614	broad.mit.edu	37	20	34130126	34130126	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34130126A>G	uc002xcu.2	+	c.143A>G	c.(142-144)TAT>TGT	p.Y48C	ERGIC3_uc002xcq.1_Missense_Mutation_p.Y48C|ERGIC3_uc002xcr.1_Missense_Mutation_p.Y48C|ERGIC3_uc010zvg.1_Missense_Mutation_p.Y48C|ERGIC3_uc002xcs.2_Missense_Mutation_p.Y48C|ERGIC3_uc002xct.2_Missense_Mutation_p.Y48C|ERGIC3_uc002xcv.2_Missense_Mutation_p.Y11C	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	48	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)	2	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)											0.282609	37.1575	39.109122	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34130126	34130126	5418	20	A	G	G	G	208	16	ERGIC3	4	4
SLC13A3	64849	broad.mit.edu	37	20	45217842	45217842	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45217842G>C	uc002xsf.1	-	c.973C>G	c.(973-975)CGA>GGA	p.R325G	SLC13A3_uc010ghn.1_Missense_Mutation_p.R294G|SLC13A3_uc010zxw.1_Missense_Mutation_p.R275G|SLC13A3_uc002xsg.1_Missense_Mutation_p.R278G|SLC13A3_uc010gho.1_Missense_Mutation_p.R278G|SLC13A3_uc010zxx.1_Missense_Mutation_p.R227G	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	325	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)									0.321429	87.801956	90.177488	27	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45217842	45217842	14888	20	G	C	C	C	480	37	SLC13A3	3	3
ZNF831	128611	broad.mit.edu	37	20	57829275	57829275	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57829275T>C	uc002yan.2	+	c.4511T>C	c.(4510-4512)ATA>ACA	p.I1504T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1504						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.305085	56.031007	58.028704	18	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57829275	57829275	18784	20	T	C	C	C	637	49	ZNF831	4	4
USP16	10600	broad.mit.edu	37	21	30421097	30421097	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30421097T>G	uc002ymy.2	+	c.2027T>G	c.(2026-2028)GTT>GGT	p.V676G	USP16_uc002ymx.2_Missense_Mutation_p.V675G|USP16_uc002ymw.2_Missense_Mutation_p.V676G|USP16_uc011acm.1_Missense_Mutation_p.V661G|USP16_uc011acn.1_Missense_Mutation_p.V342G|USP16_uc011aco.1_Missense_Mutation_p.V366G	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	676					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			pancreas(1)	1						Melanoma(92;625 1444 27493 34101 44971)								0.48	42.500198	42.508823	12	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30421097	30421097	17609	21	T	G	G	G	780	60	USP16	4	4
LSS	4047	broad.mit.edu	37	21	47611873	47611873	+	Silent	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47611873C>T	uc002zij.2	-	c.1989G>A	c.(1987-1989)CGG>CGA	p.R663R	LSS_uc011afv.1_Silent_p.R652R|LSS_uc002zil.2_Silent_p.R663R|LSS_uc002zik.2_Silent_p.R583R	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	663					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					Pancreas(114;955 2313 34923 50507)								0.2	6.616207	7.87199	3	12	KEEP	---	---	---	---	capture		Silent	SNP	47611873	47611873	9441	21	C	T	T	T	327	26	LSS	2	2
LCT	3938	broad.mit.edu	37	2	136562486	136562486	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136562486G>T	uc002tuu.1	-	c.4315C>A	c.(4315-4317)CTG>ATG	p.L1439M		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1439	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.333333	24.77093	25.432692	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136562486	136562486	9017	2	G	T	T	T	451	35	LCT	2	2
MCM6	4175	broad.mit.edu	37	2	136598504	136598504	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136598504C>A	uc002tuw.2	-	c.2367G>T	c.(2365-2367)GAG>GAT	p.E789D		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	789					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)								0.428571	27.071159	27.164733	9	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136598504	136598504	9780	2	C	A	A	A	363	28	MCM6	2	2
SCN2A	6326	broad.mit.edu	37	2	166187865	166187865	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166187865C>G	uc002udc.2	+	c.2175C>G	c.(2173-2175)TGC>TGG	p.C725W	SCN2A_uc002udd.2_Missense_Mutation_p.C725W|SCN2A_uc002ude.2_Missense_Mutation_p.C725W	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	725					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.393939	43.468311	43.793212	13	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166187865	166187865	14398	2	C	G	G	G	337	26	SCN2A	3	3
SCN2A	6326	broad.mit.edu	37	2	166187914	166187914	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166187914T>A	uc002udc.2	+	c.2224T>A	c.(2224-2226)TGT>AGT	p.C742S	SCN2A_uc002udd.2_Missense_Mutation_p.C742S|SCN2A_uc002ude.2_Missense_Mutation_p.C742S	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	742	II.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.557692	90.773796	90.923792	29	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166187914	166187914	14398	2	T	A	A	A	819	63	SCN2A	3	3
SCN7A	6332	broad.mit.edu	37	2	167289191	167289191	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167289191A>C	uc002udu.1	-	c.2229T>G	c.(2227-2229)AAT>AAG	p.N743K	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	743					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.545455	42.802709	42.842327	12	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167289191	167289191	14405	2	A	C	C	C	102	8	SCN7A	4	4
FAM171B	165215	broad.mit.edu	37	2	187608303	187608303	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187608303G>T	uc002ups.2	+	c.565_splice	c.e3+1	p.D189_splice	FAM171B_uc002upr.1_Splice_Site_SNP_p.D189_splice	NM_177454	NP_803237			KIAA1946							integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10														0.454545	32.847767	32.887355	10	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	187608303	187608303	5697	2	G	T	T	T	572	44	FAM171B	5	2
SGOL2	151246	broad.mit.edu	37	2	201436706	201436706	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201436706A>G	uc002uvw.2	+	c.1637A>G	c.(1636-1638)GAT>GGT	p.D546G	SGOL2_uc010zhd.1_Missense_Mutation_p.D546G|SGOL2_uc010zhe.1_Missense_Mutation_p.D546G	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	546					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)	2														0.434783	64.896241	65.066144	20	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201436706	201436706	14708	2	A	G	G	G	156	12	SGOL2	4	4
NBEAL1	65065	broad.mit.edu	37	2	204036657	204036657	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:204036657G>T	uc002uzt.3	+	c.6022G>T	c.(6022-6024)GTA>TTA	p.V2008L	NBEAL1_uc002uzs.3_Missense_Mutation_p.V718L	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2008	BEACH.						binding			ovary(1)	1														0.458333	33.52191	33.55827	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204036657	204036657	10584	2	G	T	T	T	572	44	NBEAL1	2	2
ABI2	10152	broad.mit.edu	37	2	204245064	204245064	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:204245064C>T	uc002vaa.2	+	c.419C>T	c.(418-420)CCT>CTT	p.P140L	ABI2_uc010zig.1_Non-coding_Transcript|ABI2_uc002uzz.2_Missense_Mutation_p.P140L|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.P140L|ABI2_uc010zij.1_Missense_Mutation_p.P84L|ABI2_uc002vab.2_Missense_Mutation_p.P95L|ABI2_uc010zik.1_5'UTR|ABI2_uc010zil.1_5'UTR|ABI2_uc010zim.1_5'UTR	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	140					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0														0.471698	82.7717	82.808645	25	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204245064	204245064	90	2	C	T	T	T	312	24	ABI2	2	2
MYH15	22989	broad.mit.edu	37	3	108112888	108112888	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108112888G>T	uc003dxa.1	-	c.5309C>A	c.(5308-5310)GCA>GAA	p.A1770E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1770	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.7	365.050341	370.764794	112	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108112888	108112888	10429	3	G	T	T	T	598	46	MYH15	2	2
STXBP5L	9515	broad.mit.edu	37	3	121126342	121126342	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121126342T>C	uc003eec.3	+	c.2912T>C	c.(2911-2913)GTT>GCT	p.V971A	STXBP5L_uc011bji.1_Missense_Mutation_p.V947A	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	971					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.675926	265.112687	268.079808	73	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121126342	121126342	15877	3	T	C	C	C	780	60	STXBP5L	4	4
SR140	23350	broad.mit.edu	37	3	142769851	142769851	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142769851A>T	uc003evh.1	+	c.2615A>T	c.(2614-2616)CAG>CTG	p.Q872L	SR140_uc003evi.1_Missense_Mutation_p.Q463L|SR140_uc003evj.1_Non-coding_Transcript|SR140_uc003evk.1_Missense_Mutation_p.Q871L|SR140_uc003evl.1_Missense_Mutation_p.Q439L	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	872	Potential.|Glu-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						Colon(87;897 1320 15089 19747 35974)								0.72549	129.997487	132.333046	37	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142769851	142769851	15645	3	A	T	T	T	91	7	SR140	3	3
FNDC3B	64778	broad.mit.edu	37	3	172065056	172065056	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172065056G>A	uc003fhy.2	+	c.2419G>A	c.(2419-2421)GAT>AAT	p.D807N	FNDC3B_uc003fhz.3_Missense_Mutation_p.D807N	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	807	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				ovary(1)|breast(1)	2	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)										0.376238	113.324906	114.682951	38	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172065056	172065056	6212	3	G	A	A	A	429	33	FNDC3B	2	2
NAALADL2	254827	broad.mit.edu	37	3	174814953	174814953	+	Silent	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:174814953G>A	uc003fit.2	+	c.417G>A	c.(415-417)GGG>GGA	p.G139G	NAALADL2_uc003fiu.1_Silent_p.G132G	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	139	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)										0.212766	117.119611	135.037104	50	185	KEEP	---	---	---	---	capture		Silent	SNP	174814953	174814953	10525	3	G	A	A	A	522	41	NAALADL2	2	2
RTP1	132112	broad.mit.edu	37	3	186917481	186917481	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186917481C>T	uc003frg.2	+	c.415C>T	c.(415-417)CGG>TGG	p.R139W		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	139	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)										0.254237	35.79435	39.033999	15	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186917481	186917481	14213	3	C	T	T	T	347	27	RTP1	1	1
MUC4	4585	broad.mit.edu	37	3	195477785	195477785	+	Silent	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195477785C>A	uc011bto.1	-	c.15462G>T	c.(15460-15462)GGG>GGT	p.G5154G	MUC4_uc010hzq.2_Silent_p.G139G|MUC4_uc003fuz.2_Silent_p.G880G|MUC4_uc003fva.2_Silent_p.G762G|MUC4_uc003fvb.2_Silent_p.G798G|MUC4_uc003fvc.2_Non-coding_Transcript|MUC4_uc003fvd.2_Non-coding_Transcript|MUC4_uc003fve.2_Silent_p.G798G|MUC4_uc010hzr.2_Non-coding_Transcript|MUC4_uc011btf.1_Silent_p.G762G|MUC4_uc011btg.1_Non-coding_Transcript|MUC4_uc011bth.1_Silent_p.G846G|MUC4_uc011bti.1_Silent_p.G846G|MUC4_uc011btj.1_Silent_p.G1023G|MUC4_uc011btk.1_Silent_p.G762G|MUC4_uc011btl.1_Silent_p.G791G|MUC4_uc011btm.1_Silent_p.G971G|MUC4_uc011btn.1_Silent_p.G762G|MUC4_uc003fvo.2_Silent_p.G1046G|MUC4_uc003fvp.2_Silent_p.G995G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2039				G -> E (in Ref. 1; CAB85604/CAB85605/ CAB85606, 4; CAD22550 and 5; CAB38059).	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)										0.33913	106.584405	109.218189	39	76	KEEP	---	---	---	---	capture		Silent	SNP	195477785	195477785	10372	3	C	A	A	A	275	22	MUC4	2	2
TUBB4Q	56604	broad.mit.edu	37	4	190903926	190903926	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:190903926C>T	uc011clg.1	-	c.1054G>A	c.(1054-1056)GTC>ATC	p.V352I		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	353					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)										1	19.115347	19.084551	5	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190903926	190903926	17314	4	C	T	T	T	247	19	TUBB4Q	1	1
PCDHB8	56128	broad.mit.edu	37	5	140559503	140559503	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559503C>G	uc011dai.1	+	c.1888C>G	c.(1888-1890)CTG>GTG	p.L630V	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	630	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.925926	88.977014	93.622084	25	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140559503	140559503	11968	5	C	G	G	G	363	28	PCDHB8	3	3
GDNF	2668	broad.mit.edu	37	5	37815776	37815776	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37815776C>T	uc011cpg.1	-	c.664G>A	c.(664-666)GCT>ACT	p.A222T	GDNF_uc011cpc.1_Missense_Mutation_p.A127T|GDNF_uc011cpd.1_Missense_Mutation_p.A153T|GDNF_uc011cpe.1_Missense_Mutation_p.A179T|GDNF_uc011cpf.1_Missense_Mutation_p.A179T|GDNF_uc011cph.1_Missense_Mutation_p.A196T|GDNF_uc011cpi.1_Missense_Mutation_p.A205T	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	205					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of monooxygenase activity|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)													0.324138	379.476966	391.33955	141	294	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37815776	37815776	6590	5	C	T	T	T	351	27	GDNF	1	1
HEATR7B2	133558	broad.mit.edu	37	5	41039551	41039551	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41039551T>G	uc003jmj.3	-	c.2060A>C	c.(2059-2061)AAG>ACG	p.K687T	HEATR7B2_uc003jmi.3_Missense_Mutation_p.K242T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	687	HEAT 8.						binding			ovary(6)|central_nervous_system(2)	8														0.787234	115.094515	118.676536	37	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41039551	41039551	7318	5	T	G	G	G	728	56	HEATR7B2	4	4
ADAMTS16	170690	broad.mit.edu	37	5	5239922	5239922	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5239922G>C	uc003jdl.2	+	c.2407G>C	c.(2407-2409)GTG>CTG	p.V803L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.V803L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	803	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.107865	56.093319	123.932191	48	397	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5239922	5239922	262	5	G	C	C	C	520	40	ADAMTS16	3	3
GPRC6A	222545	broad.mit.edu	37	6	117113721	117113721	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117113721G>T	uc003pxj.1	-	c.2365C>A	c.(2365-2367)CTC>ATC	p.L789I	GPRC6A_uc003pxk.1_Missense_Mutation_p.L614I|GPRC6A_uc003pxl.1_Missense_Mutation_p.L718I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	789	Helical; Name=6; (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)										0.685185	120.694207	122.343907	37	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117113721	117113721	7004	6	G	T	T	T	442	34	GPRC6A	2	2
CCDC28A	25901	broad.mit.edu	37	6	139106442	139106442	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139106442A>C	uc003qie.2	+	c.671A>C	c.(670-672)TAT>TCT	p.Y224S		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	224											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)										0.352564	176.199271	179.180287	55	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139106442	139106442	2924	6	A	C	C	C	208	16	CCDC28A	4	4
TAGAP	117289	broad.mit.edu	37	6	159457645	159457645	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159457645G>T	uc003qrz.2	-	c.1410C>A	c.(1408-1410)GAC>GAA	p.D470E	TAGAP_uc011eft.1_Missense_Mutation_p.D407E|TAGAP_uc003qsa.2_Missense_Mutation_p.D292E	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	470					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)										0.346939	97.816951	99.845304	34	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159457645	159457645	16058	6	G	T	T	T	620	48	TAGAP	2	2
FAM120B	84498	broad.mit.edu	37	6	170627473	170627473	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170627473G>T	uc003qxp.2	+	c.995G>T	c.(994-996)AGT>ATT	p.S332I	FAM120B_uc003qxo.1_Missense_Mutation_p.S332I|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	332					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)										0.581633	179.287111	179.857046	57	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170627473	170627473	5614	6	G	T	T	T	468	36	FAM120B	2	2
GCLC	2729	broad.mit.edu	37	6	53379269	53379269	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:53379269C>T	uc003pbw.1	-	c.587G>A	c.(586-588)AGG>AAG	p.R196K	GCLC_uc003pbx.2_Missense_Mutation_p.R196K	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	196					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)									0.265306	72.211149	77.086063	26	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53379269	53379269	6561	6	C	T	T	T	312	24	GCLC	2	2
AASS	10157	broad.mit.edu	37	7	121738573	121738573	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121738573A>T	uc003vka.2	-	c.1586T>A	c.(1585-1587)GTT>GAT	p.V529D	AASS_uc011knu.1_Non-coding_Transcript|AASS_uc011knv.1_Non-coding_Transcript|AASS_uc003vkb.2_Missense_Mutation_p.V529D|AASS_uc011knw.1_Missense_Mutation_p.V17D	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	529	Saccharopine dehydrogenase.				oxidation-reduction process|protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			ovary(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.538462	43.750932	43.784338	14	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121738573	121738573	25	7	A	T	T	T	26	2	AASS	3	3
ARL4A	10124	broad.mit.edu	37	7	12728378	12728378	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:12728378A>G	uc003ssp.2	+	c.499A>G	c.(499-501)ACC>GCC	p.T167A	ARL4A_uc003ssq.2_Missense_Mutation_p.T167A|ARL4A_uc003ssr.2_Missense_Mutation_p.T167A|ARL4A_uc003sss.2_Missense_Mutation_p.T167A	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	167					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)										0.333333	57.936613	59.262741	18	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12728378	12728378	953	7	A	G	G	G	182	14	ARL4A	4	4
OR9A4	130075	broad.mit.edu	37	7	141618909	141618909	+	Silent	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141618909C>T	uc003vwu.1	+	c.234C>T	c.(232-234)CCC>CCT	p.P78P		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	78	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0171)													0.460432	206.395244	206.583529	64	75	KEEP	---	---	---	---	capture		Silent	SNP	141618909	141618909	11660	7	C	T	T	T	288	23	OR9A4	1	1
ZNF425	155054	broad.mit.edu	37	7	148801967	148801967	+	Silent	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148801967A>G	uc003wfj.2	-	c.996T>C	c.(994-996)TGT>TGC	p.C332C		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	332	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)											0.205882	16.116558	18.840559	7	27	KEEP	---	---	---	---	capture		Silent	SNP	148801967	148801967	18492	7	A	G	G	G	128	10	ZNF425	4	4
PRPS1L1	221823	broad.mit.edu	37	7	18067261	18067261	+	Missense_Mutation	SNP	G	T	T	rs112075478		TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18067261G>T	uc003stz.2	-	c.145C>A	c.(145-147)CGT>AGT	p.R49S		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	49					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.R49C(1)		ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)													0.446809	257.676703	258.139836	84	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18067261	18067261	13022	7	G	T	T	T	494	38	PRPS1L1	1	1
ZNF107	51427	broad.mit.edu	37	7	64166863	64166863	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64166863C>T	uc003ttd.2	+	c.181C>T	c.(181-183)CAT>TAT	p.H61Y	ZNF107_uc003tte.2_Missense_Mutation_p.H61Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)												0.304348	18.915979	19.701743	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64166863	64166863	18306	7	C	T	T	T	377	29	ZNF107	2	2
HGF	3082	broad.mit.edu	37	7	81334811	81334811	+	Silent	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81334811A>G	uc003uhl.2	-	c.1905T>C	c.(1903-1905)TAT>TAC	p.Y635Y	HGF_uc003uhm.2_Silent_p.Y630Y	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	635	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.555556	67.103178	67.199948	20	16	KEEP	---	---	---	---	capture		Silent	SNP	81334811	81334811	7369	7	A	G	G	G	206	16	HGF	4	4
COL1A2	1278	broad.mit.edu	37	7	94055082	94055082	+	Silent	SNP	C	T	T	rs1800241		TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94055082C>T	uc003ung.1	+	c.2856C>T	c.(2854-2856)GGC>GGT	p.G952G	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	952					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)									0.625	30.050566	30.269322	10	6	KEEP	---	---	---	---	capture		Silent	SNP	94055082	94055082	3816	7	C	T	T	T	314	25	COL1A2	2	2
DLC1	10395	broad.mit.edu	37	8	13259057	13259057	+	Silent	SNP	A	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:13259057A>T	uc003wwm.2	-	c.1095T>A	c.(1093-1095)CTT>CTA	p.L365L	DLC1_uc003wwn.2_Silent_p.L365L|DLC1_uc011kxy.1_Silent_p.L365L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	365					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7										739				0.531915	165.756254	165.839642	50	44	KEEP	---	---	---	---	capture		Silent	SNP	13259057	13259057	4730	8	A	T	T	T	54	5	DLC1	3	3
KHDRBS3	10656	broad.mit.edu	37	8	136594172	136594172	+	Silent	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:136594172G>T	uc003yuv.2	+	c.663G>T	c.(661-663)GGG>GGT	p.G221G	KHDRBS3_uc003yuw.2_Silent_p.G221G|KHDRBS3_uc010mek.2_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	221	Interaction with SIAH1.			Missing: Complete loss of SIAH1-mediated degradation.	regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)											0.606742	163.458072	164.343801	54	35	KEEP	---	---	---	---	capture		Silent	SNP	136594172	136594172	8454	8	G	T	T	T	522	41	KHDRBS3	2	2
CDCA2	157313	broad.mit.edu	37	8	25346171	25346171	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25346171A>G	uc003xep.1	+	c.1637A>G	c.(1636-1638)AAG>AGG	p.K546R	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.K546R|CDCA2_uc003xeq.1_Missense_Mutation_p.K531R|CDCA2_uc003xer.1_Missense_Mutation_p.K209R	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	546	Lys-rich.				cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)										0.405941	137.756081	138.537073	41	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25346171	25346171	3215	8	A	G	G	G	39	3	CDCA2	4	4
CHRNA2	1135	broad.mit.edu	37	8	27320983	27320983	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27320983G>A	uc010lur.2	-	c.977C>T	c.(976-978)CCG>CTG	p.P326L	CHRNA2_uc011lal.1_Missense_Mutation_p.P311L|CHRNA2_uc010lus.2_Missense_Mutation_p.P128L	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	326						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)									0.388889	67.366991	67.949643	21	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27320983	27320983	3517	8	G	A	A	A	507	39	CHRNA2	1	1
UNC5D	137970	broad.mit.edu	37	8	35648015	35648015	+	Silent	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:35648015C>T	uc003xjr.1	+	c.2796C>T	c.(2794-2796)CTC>CTT	p.L932L	UNC5D_uc003xjs.1_Silent_p.L927L|UNC5D_uc003xju.1_Silent_p.L508L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	932	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			ovary(2)|pancreas(1)	3				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)										0.366071	122.656275	124.418257	41	71	KEEP	---	---	---	---	capture		Silent	SNP	35648015	35648015	17553	8	C	T	T	T	405	32	UNC5D	2	2
FBXO25	26260	broad.mit.edu	37	8	408529	408529	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:408529A>G	uc003wox.2	+	c.821A>G	c.(820-822)CAG>CGG	p.Q274R	FBXO25_uc003woy.2_Missense_Mutation_p.Q274R|FBXO25_uc003woz.2_Missense_Mutation_p.Q207R|FBXO25_uc003wpa.2_Missense_Mutation_p.Q57R	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	274	F-box.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)										0.428571	181.653248	182.245247	57	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	408529	408529	5973	8	A	G	G	G	91	7	FBXO25	4	4
C8orf84	157869	broad.mit.edu	37	8	74005206	74005206	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:74005206C>A	uc003xzf.2	-	c.97G>T	c.(97-99)GAC>TAC	p.D33Y		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	RPE-spondin precursor	33	SMB.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity				0														0.5	8.223726	8.223726	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74005206	74005206	2553	8	C	A	A	A	390	30	C8orf84	2	2
KCNS2	3788	broad.mit.edu	37	8	99440424	99440424	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99440424C>T	uc003yin.2	+	c.217C>T	c.(217-219)CGC>TGC	p.R73C		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	73	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			Pancreas(138;844 2489 9202 24627)								0.613445	247.627883	248.985773	73	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99440424	99440424	8394	8	C	T	T	T	299	23	KCNS2	1	1
SNAPC4	6621	broad.mit.edu	37	9	139270916	139270916	+	Silent	SNP	A	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139270916A>T	uc004chh.2	-	c.4302T>A	c.(4300-4302)GGT>GGA	p.G1434G	CARD9_uc004chg.3_5'Flank|CARD9_uc011mdw.1_5'Flank|CARD9_uc011mdx.1_5'Flank|CARD9_uc010nbj.2_5'Flank	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1434					regulation of transcription, DNA-dependent|snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)										0.619048	41.87921	42.140668	13	8	KEEP	---	---	---	---	capture		Silent	SNP	139270916	139270916	15337	9	A	T	T	T	171	14	SNAPC4	3	3
GLA	2717	broad.mit.edu	37	X	100653424	100653424	+	Silent	SNP	A	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100653424A>C	uc004ehl.1	-	c.933T>G	c.(931-933)CTT>CTG	p.L311L		NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	311					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	alpha-galactosidase activity|cation binding|protein homodimerization activity|receptor binding				0					Agalsidase beta(DB00103)	Colon(193;776 2816 31189 44474)								0.520755	485.266647	485.366273	138	127	KEEP	---	---	---	---	capture		Silent	SNP	100653424	100653424	6694	23	A	C	C	C	106	9	GLA	4	4
RGAG1	57529	broad.mit.edu	37	X	109696973	109696973	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109696973C>A	uc004eor.1	+	c.3128C>A	c.(3127-3129)CCA>CAA	p.P1043Q	RGAG1_uc011msr.1_Missense_Mutation_p.P1043Q	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1043										lung(2)|ovary(1)	3														0.417582	220.366089	221.44489	76	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109696973	109696973	13747	23	C	A	A	A	273	21	RGAG1	2	2
LAMP2	3920	broad.mit.edu	37	X	119589315	119589315	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119589315C>A	uc004ess.3	-	c.294G>T	c.(292-294)TGG>TGT	p.W98C	LAMP2_uc004est.3_Missense_Mutation_p.W98C|LAMP2_uc011mtz.1_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.W51C|LAMP2_uc010nqp.1_Missense_Mutation_p.W98C	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2 isoform	98	Lumenal (Potential).|First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1														0.418033	146.01149	146.72447	51	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119589315	119589315	8941	23	C	A	A	A	390	30	LAMP2	2	2
FAM127C	441518	broad.mit.edu	37	X	134156334	134156334	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134156334G>T	uc004eyc.1	-	c.156C>A	c.(154-156)TTC>TTA	p.F52L		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	52											0	Acute lymphoblastic leukemia(192;0.000127)													0.416667	166.707936	167.505945	55	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134156334	134156334	5630	23	G	T	T	T	477	37	FAM127C	1	1
SLC9A6	10479	broad.mit.edu	37	X	135104854	135104854	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135104854C>T	uc004ezk.2	+	c.1460C>T	c.(1459-1461)GCT>GTT	p.A487V	SLC9A6_uc004ezj.2_Missense_Mutation_p.A455V	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	455	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.365854	45.112591	45.762023	15	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135104854	135104854	15215	23	C	T	T	T	364	28	SLC9A6	2	2
CXorf66	347487	broad.mit.edu	37	X	139040234	139040234	+	Silent	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:139040234G>T	uc004fbb.2	-	c.231C>A	c.(229-231)TCC>TCA	p.S77S		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	77	Cytoplasmic (Potential).					integral to membrane					0														0.413483	568.747941	571.648405	184	261	KEEP	---	---	---	---	capture		Silent	SNP	139040234	139040234	4283	23	G	T	T	T	600	47	CXorf66	2	2
SLITRK2	84631	broad.mit.edu	37	X	144904453	144904453	+	Silent	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904453G>T	uc004fcd.2	+	c.510G>T	c.(508-510)CTG>CTT	p.L170L	SLITRK2_uc010nsp.2_Silent_p.L170L|SLITRK2_uc010nso.2_Silent_p.L170L|SLITRK2_uc011mwq.1_Silent_p.L170L|SLITRK2_uc011mwr.1_Silent_p.L170L|SLITRK2_uc011mws.1_Silent_p.L170L|SLITRK2_uc004fcg.2_Silent_p.L170L|SLITRK2_uc011mwt.1_Silent_p.L170L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	170	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.436975	157.278828	157.691507	52	67	KEEP	---	---	---	---	capture		Silent	SNP	144904453	144904453	15241	23	G	T	T	T	587	46	SLITRK2	2	2
PRRG3	79057	broad.mit.edu	37	X	150869182	150869182	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150869182G>C	uc004few.1	+	c.373G>C	c.(373-375)GCC>CCC	p.A125P		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	125	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.40411	190.036928	191.197315	59	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150869182	150869182	13056	23	G	C	C	C	494	38	PRRG3	3	3
NSDHL	50814	broad.mit.edu	37	X	152031185	152031185	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152031185G>A	uc004fgt.1	+	c.460G>A	c.(460-462)GAT>AAT	p.D154N	NSDHL_uc004fgs.1_Missense_Mutation_p.D154N	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	154					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)									0.438017	162.661127	163.065455	53	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152031185	152031185	11075	23	G	A	A	A	481	37	NSDHL	1	1
DNASE1L1	1774	broad.mit.edu	37	X	153633815	153633815	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153633815G>A	uc004fks.1	-	c.95C>T	c.(94-96)GCC>GTC	p.A32V	DNASE1L1_uc004fkt.1_Missense_Mutation_p.A32V|DNASE1L1_uc004fku.1_Missense_Mutation_p.A32V|DNASE1L1_uc004fkv.1_Missense_Mutation_p.A32V|DNASE1L1_uc004fkw.1_Missense_Mutation_p.A32V	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	32					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)													0.363636	20.89361	21.253623	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153633815	153633815	4844	23	G	A	A	A	546	42	DNASE1L1	2	2
FIGF	2277	broad.mit.edu	37	X	15364372	15364372	+	Silent	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:15364372G>A	uc004cwt.1	-	c.948C>T	c.(946-948)GAC>GAT	p.D316D		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	316	4.|4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)									167				0.394737	169.75898	171.235551	60	92	KEEP	---	---	---	---	capture		Silent	SNP	15364372	15364372	6127	23	G	A	A	A	620	48	FIGF	2	2
PHEX	5251	broad.mit.edu	37	X	22245656	22245656	+	Silent	SNP	G	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:22245656G>A	uc004dah.2	+	c.1998G>A	c.(1996-1998)CAG>CAA	p.Q666Q	PHEX_uc011mjr.1_Silent_p.Q666Q|PHEX_uc011mjs.1_Silent_p.Q569Q	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	666					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3														0.4	116.930197	117.76123	38	57	KEEP	---	---	---	---	capture		Silent	SNP	22245656	22245656	12242	23	G	A	A	A	451	35	PHEX	2	2
ARSD	414	broad.mit.edu	37	X	2825531	2825531	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2825531C>A	uc004cqy.2	-	c.1563G>T	c.(1561-1563)AGG>AGT	p.R521S	ARSD_uc004cqz.1_Non-coding_Transcript	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	521						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.428571	27.235881	27.314094	9	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2825531	2825531	1007	23	C	A	A	A	285	22	ARSD	2	2
DMD	1756	broad.mit.edu	37	X	31224708	31224708	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31224708T>A	uc004dda.1	-	c.9640A>T	c.(9640-9642)AAG>TAG	p.K3214*	DMD_uc004dcq.1_Nonsense_Mutation_p.K485*|DMD_uc004dcr.1_Nonsense_Mutation_p.K754*|DMD_uc004dcs.1_Nonsense_Mutation_p.K754*|DMD_uc004dct.1_Nonsense_Mutation_p.K754*|DMD_uc004dcu.1_Nonsense_Mutation_p.K754*|DMD_uc004dcv.1_Nonsense_Mutation_p.K754*|DMD_uc004dcw.2_Nonsense_Mutation_p.K1870*|DMD_uc004dcx.2_Nonsense_Mutation_p.K1873*|DMD_uc004dcz.2_Nonsense_Mutation_p.K3091*|DMD_uc004dcy.1_Nonsense_Mutation_p.K3210*|DMD_uc004ddb.1_Nonsense_Mutation_p.K3206*|DMD_uc004dcm.1_Nonsense_Mutation_p.K146*|DMD_uc004dcn.1_Nonsense_Mutation_p.K146*|DMD_uc004dco.1_Nonsense_Mutation_p.K146*|DMD_uc004dcp.1_Nonsense_Mutation_p.K146*|DMD_uc011mkb.1_Nonsense_Mutation_p.K146*|DMD_uc010ngm.2_Nonsense_Mutation_p.K146*	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3214	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.475	58.822011	58.843777	19	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31224708	31224708	4760	23	T	A	A	A	819	63	DMD	5	3
DMD	1756	broad.mit.edu	37	X	31947760	31947760	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31947760C>G	uc004dda.1	-	c.6865G>C	c.(6865-6867)GAT>CAT	p.D2289H	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.D945H|DMD_uc004dcx.2_Missense_Mutation_p.D948H|DMD_uc004dcz.2_Missense_Mutation_p.D2166H|DMD_uc004dcy.1_Missense_Mutation_p.D2285H|DMD_uc004ddb.1_Missense_Mutation_p.D2281H|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2289	Spectrin 16.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.196078	98.79306	116.345213	40	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31947760	31947760	4760	23	C	G	G	G	416	32	DMD	3	3
WNK3	65267	broad.mit.edu	37	X	54321231	54321231	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54321231G>T	uc004dtc.1	-	c.1448C>A	c.(1447-1449)TCC>TAC	p.S483Y	WNK3_uc004dtd.1_Missense_Mutation_p.S483Y	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	483					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.52381	65.35567	65.377019	22	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54321231	54321231	17953	23	G	T	T	T	533	41	WNK3	2	2
WNK3	65267	broad.mit.edu	37	X	54337558	54337558	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54337558A>G	uc004dtc.1	-	c.704T>C	c.(703-705)TTA>TCA	p.L235S	WNK3_uc004dtd.1_Missense_Mutation_p.L235S	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	235	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.4	48.145273	48.450723	14	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54337558	54337558	17953	23	A	G	G	G	169	13	WNK3	4	4
POF1B	79983	broad.mit.edu	37	X	84560880	84560880	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84560880T>C	uc004ees.2	-	c.1354A>G	c.(1354-1356)AAA>GAA	p.K452E	POF1B_uc004eer.2_Missense_Mutation_p.K452E	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	452							actin binding				0														0.5	157.85357	157.85357	46	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84560880	84560880	12610	23	T	C	C	C	793	61	POF1B	4	4
TET3	200424	broad.mit.edu	37	2	74326442	74326442	+	Frame_Shift_Del	DEL	A	-	-			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74326442_74326442delA	uc002skb.3	+	c.2902_2902delA	c.(2902-2904)AAGfs	p.K968fs		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	968					oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.48			10	11		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	74326442	74326442	16298	2	A	-	-	-	65	5	TET3	5	5
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140052285_140052285delT	uc003lgt.2	-	c.349_349delA	c.(349-351)ACGfs	p.T117fs		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.56			5	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140052285	140052285	4849	5	T	-	-	-	767	59	DND1	5	5
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	-	-			TCGA-17-Z027-01	TCGA-17-Z027-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30634583_30634585delCTG	uc003tbm.2	+	c.46_48delCTG	c.(46-48)CTGdel	p.L20del		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)									0.33			3	6		---	---	---	---	capture_indel		In_Frame_Del	DEL	30634583	30634585	6506	7	CTG	-	-	-	415	32	GARS	5	5
