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	i_TCGAscape_Amplification_Peaks	i_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_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
EBF3	253738	broad.mit.edu	36	10	131530476	131530476	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:131530476G>C	uc001lki.1	-	c.1239C>G	c.(1237-1239)ATC>ATG	p.I413M		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	422					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding|transcription regulator activity			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)												0.278302	172.49624	181.901857	59	153	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	Missense_Mutation	SNP	131530476	131530476	5068	10	G	C	C	41	41	EBF3	C	3	3
OIT3	170392	broad.mit.edu	36	10	74336384	74336384	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1831-01	TCGA-27-1831-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74336384A>G	uc001jte.1	+	c.569A>G	c.(568-570)AAC>AGC	p.N190S	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3	190	EGF-like; calcium-binding (Potential).					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					Colon(7;19 345 13446 17537)								0.337255	279.885285	285.852236	86	169	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74336384	74336384	11254	10	A	G	G	2	2	OIT3	G	4	4
KIAA1377	57562	broad.mit.edu	36	11	101298656	101298656	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101298656G>A	uc001pgm.1	+	c.203G>A	c.(202-204)CGA>CAA	p.R68Q	KIAA1377_uc001pgn.1_Missense_Mutation_p.R24Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	68	Potential.						protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)												0.325581	79.069985	81.391461	28	58	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.038)	Missense_Mutation	SNP	101298656	101298656	8536	11	G	A	A	37	37	KIAA1377	A	1	1
OR52J3	119679	broad.mit.edu	36	11	5024788	5024788	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5024788C>T	uc001lzx.1	+	c.457C>T	c.(457-459)CGT>TGT	p.R153C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)												0.384615	131.609201	132.952604	45	72	CC		KEEP	---	---	---	---	capture		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	5024788	5024788	11532	11	C	T	T	31	31	OR52J3	T	1	1
PYGM	5837	broad.mit.edu	36	11	64277587	64277587	+	Silent	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64277587G>A	uc001oax.2	-	c.1383C>T	c.(1381-1383)TCC>TCT	p.S461S	PYGM_uc001oay.2_Silent_p.S373S	NM_005609	NP_005600	P11217	PYGM_HUMAN	glycogen phosphorylase	461					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)									0.333333	20.318539	20.834883	7	14	GG		KEEP	---	---	---	---	capture			Silent	SNP	64277587	64277587	13320	11	G	A	A	39	39	PYGM	A	1	1
GPR83	10888	broad.mit.edu	36	11	93753273	93753273	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93753273C>T	uc001pet.1	-	c.962G>A	c.(961-963)CGC>CAC	p.R321H		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	321	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.374408	222.077965	224.997497	79	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93753273	93753273	6988	11	C	T	T	27	27	GPR83	T	1	1
DAO	1610	broad.mit.edu	36	12	107817315	107817315	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107817315C>T	uc001tnr.2	+	c.847C>T	c.(847-849)CGG>TGG	p.R283W	DAO_uc001tnq.2_Missense_Mutation_p.R217W|DAO_uc009zvb.1_Non-coding_Transcript|DAO_uc001tns.2_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	283		Substrate.			glyoxylate metabolic process|oxidation-reduction process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2														0.25	30.49486	33.209946	12	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107817315	107817315	4398	12	C	T	T	23	23	DAO	T	1	1
GRIN2B	2904	broad.mit.edu	36	12	13607620	13607620	+	Silent	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13607620C>T	uc001rbt.2	-	c.3819G>A	c.(3817-3819)ACG>ACA	p.T1273T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1273	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.28125	44.039494	46.782094	18	46	CC		KEEP	---	---	---	---	capture			Silent	SNP	13607620	13607620	7059	12	C	T	T	19	19	GRIN2B	T	1	1
EPYC	1833	broad.mit.edu	36	12	89887969	89887969	+	Nonsense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:89887969G>A	uc001tbk.1	-	c.781C>T	c.(781-783)CGA>TGA	p.R261*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	261	LRR 5.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding				0														0.332075	248.990591	255.571244	88	177	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	89887969	89887969	5394	12	G	A	A	40	40	EPYC	A	5	1
NR1H4	9971	broad.mit.edu	36	12	99421386	99421386	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:99421386G>T	uc001tht.1	+	c.90G>T	c.(88-90)ATG>ATT	p.M30I	NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.M30I	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	30					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3														0.307692	31.483558	32.770353	12	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99421386	99421386	11024	12	G	T	T	45	45	NR1H4	T	3	3
RPGRIP1	57096	broad.mit.edu	36	14	20863345	20863345	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20863345C>A	uc001wag.1	+	c.2330C>A	c.(2329-2331)ACC>AAC	p.T777N	RPGRIP1_uc001wah.1_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.1_Intron|RPGRIP1_uc001wak.1_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.1_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.1_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.1_Missense_Mutation_p.T94N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	777					response to stimulus|visual perception	cilium		p.H94Y(1)		ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)								1408				0.551724	48.700682	48.767923	16	13	CC		KEEP	---	---	---	---	capture	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	Missense_Mutation	SNP	20863345	20863345	14028	14	C	A	A	18	18	RPGRIP1	A	3	3
GPR135	64582	broad.mit.edu	36	14	59000331	59000331	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1831-01	TCGA-27-1831-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:59000331T>C	uc010apj.1	-	c.1367A>G	c.(1366-1368)GAC>GGC	p.D456G	GPR135_uc001xed.2_Non-coding_Transcript	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	456	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.357143	11.368569	11.621223	5	9	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.134)	Missense_Mutation	SNP	59000331	59000331	6918	14	T	C	C	58	58	GPR135	C	4	4
LOXL1	4016	broad.mit.edu	36	15	72025874	72025874	+	Silent	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72025874C>T	uc002awc.1	+	c.1275C>T	c.(1273-1275)CGC>CGT	p.R425R	LOXL1_uc002awd.1_5'Flank	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	425	Lysyl-oxidase like.				oxidation-reduction process|protein deamination	extracellular space	copper ion binding				0														0.52	38.172126	38.180683	13	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	72025874	72025874	9272	15	C	T	T	27	27	LOXL1	T	1	1
MYO1D	4642	broad.mit.edu	36	17	28129683	28129683	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28129683G>A	uc002hho.1	-	c.326C>T	c.(325-327)ACG>ATG	p.T109M	MYO1D_uc002hhp.1_Missense_Mutation_p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	109	ATP (Potential).|Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.318966	96.529554	99.910646	37	79	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Missense_Mutation	SNP	28129683	28129683	10466	17	G	A	A	40	40	MYO1D	A	1	1
TANC2	26115	broad.mit.edu	36	17	58782429	58782429	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1831-01	TCGA-27-1831-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:58782429A>G	uc002jal.2	+	c.1672A>G	c.(1672-1674)ATT>GTT	p.I558V		NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	558							binding			ovary(2)	2														0.385714	175.61894	177.221139	54	86	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58782429	58782429	16066	17	A	G	G	4	4	TANC2	G	4	4
PTPRM	5797	broad.mit.edu	36	18	7878125	7878125	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:7878125C>A	uc010dkv.1	+	c.218C>A	c.(217-219)GCC>GAC	p.A73D	PTPRM_uc002knn.2_Missense_Mutation_p.A73D	NM_001105244	NP_001098714	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	73	MAM.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(1)|central_nervous_system(1)	5		Colorectal(10;0.234)												0.31768	302.74838	313.419804	115	247	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7878125	7878125	13263	18	C	A	A	26	26	PTPRM	A	3	3
RAVER1	125950	broad.mit.edu	36	19	10305014	10305014	+	Missense_Mutation	SNP	T	G	G			TCGA-27-1831-01	TCGA-27-1831-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10305014T>G	uc002moa.1	-	c.221A>C	c.(220-222)AAC>ACC	p.N74T		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	57	Nuclear localization signal (Potential).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1														0.26087	6.498575	7.728241	6	17	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		Missense_Mutation	SNP	10305014	10305014	13555	19	T	G	G	60	60	RAVER1	G	4	4
RAB3D	9545	broad.mit.edu	36	19	11309018	11309018	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11309018C>T	uc002mqy.1	-	c.58G>A	c.(58-60)GAC>AAC	p.D20N		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	20					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2														0.301282	256.866263	267.848725	94	218	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11309018	11309018	13393	19	C	T	T	31	31	RAB3D	T	1	1
GMIP	51291	broad.mit.edu	36	19	19607013	19607013	+	Missense_Mutation	SNP	T	G	G			TCGA-27-1831-01	TCGA-27-1831-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19607013T>G	uc002nnd.1	-	c.1570A>C	c.(1570-1572)ACC>CCC	p.T524P		NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	524	Phorbol-ester/DAG-type.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1														0.222222	9.190639	10.46857	4	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19607013	19607013	6760	19	T	G	G	58	58	GMIP	G	4	4
ZNF91	7644	broad.mit.edu	36	19	23335147	23335147	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:23335147G>C	uc002nre.1	-	c.2474C>G	c.(2473-2475)CCC>CGC	p.P825R	ZNF91_uc002nrd.1_5'Flank	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	825					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)												0.112583	21.887716	44.245012	17	134	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23335147	23335147	18804	19	G	C	C	43	43	ZNF91	C	3	3
FUT3	2525	broad.mit.edu	36	19	5795830	5795830	+	Silent	SNP	G	T	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5795830G>T	uc002mdk.2	-	c.21C>A	c.(19-21)GCC>GCA	p.A7A	FUT3_uc002mdm.2_Silent_p.A7A|FUT3_uc002mdj.2_Silent_p.A7A|FUT3_uc002mdl.2_Silent_p.A7A|FUT3_uc010dun.1_Silent_p.A7A	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	7	Cytoplasmic (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						Esophageal Squamous(82;745 1728 24593 44831)								0.235294	8.089734	9.180739	4	13	GG		KEEP	---	---	---	---	capture			Silent	SNP	5795830	5795830	6356	19	G	T	T	47	47	FUT3	T	3	3
MUC16	94025	broad.mit.edu	36	19	8948832	8948832	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8948832G>A	uc002mkp.1	-	c.3983C>T	c.(3982-3984)ACG>ATG	p.T1328M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1328	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.291262	78.206923	82.228223	30	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8948832	8948832	10367	19	G	A	A	40	40	MUC16	A	1	1
PRMT6	55170	broad.mit.edu	36	1	107401838	107401838	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:107401838C>G	uc001dvb.1	+	c.801C>G	c.(799-801)AAC>AAG	p.N267K		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	326					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)												0.210526	10.090612	11.562485	4	15	CC		KEEP	---	---	---	---	capture		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	Missense_Mutation	SNP	107401838	107401838	12983	1	C	G	G	19	19	PRMT6	G	3	3
AGMAT	79814	broad.mit.edu	36	1	15776833	15776833	+	Silent	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15776833G>A	uc001awv.1	-	c.834C>T	c.(832-834)GAC>GAT	p.D278D	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	278		Manganese 2 (By similarity).			putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding				0		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)				NSCLC(126;1678 1780 25805 43508 49531)								0.362637	93.355898	94.864297	33	58	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	15776833	15776833	388	1	G	A	A	40	40	AGMAT	A	1	1
SLC9A11	284525	broad.mit.edu	36	1	171819358	171819358	+	Missense_Mutation	SNP	T	A	A			TCGA-27-1831-01	TCGA-27-1831-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:171819358T>A	uc001giz.1	-	c.550A>T	c.(550-552)ATT>TTT	p.I184F		NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	184	Helical; (Potential).				sodium ion transport	integral to membrane	solute:hydrogen antiporter activity			ovary(2)	2														0.338346	137.545213	140.613193	45	88	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171819358	171819358	15208	1	T	A	A	51	51	SLC9A11	A	4	4
USH2A	7399	broad.mit.edu	36	1	214038880	214038880	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214038880C>T	uc001hku.1	-	c.9950G>A	c.(9949-9951)CGC>CAC	p.R3317H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3317	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.324675	129.491464	133.695291	50	104	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Missense_Mutation	SNP	214038880	214038880	17598	1	C	T	T	27	27	USH2A	T	1	1
C1orf65	164127	broad.mit.edu	36	1	221634854	221634854	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221634854C>T	uc001hoa.1	+	c.1414C>T	c.(1414-1416)CGC>TGC	p.R472C		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	472	Potential.									central_nervous_system(1)	1														0.375	69.090253	69.965715	24	40	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0704)	Missense_Mutation	SNP	221634854	221634854	2129	1	C	T	T	19	19	C1orf65	T	1	1
EPHA8	2046	broad.mit.edu	36	1	22797234	22797234	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22797234G>A	uc001bfx.1	+	c.2120G>A	c.(2119-2121)CGC>CAC	p.R707H		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	707	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		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)								520				0.331288	143.005473	147.11121	54	109	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	Missense_Mutation	SNP	22797234	22797234	5366	1	G	A	A	38	38	EPHA8	A	1	1
HTR1D	3352	broad.mit.edu	36	1	23392658	23392658	+	Silent	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23392658G>A	uc001bgn.1	-	c.642C>T	c.(640-642)ATC>ATT	p.I214I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	214	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)			Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)									0.416667	84.330197	84.768087	30	42	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Silent	SNP	23392658	23392658	7738	1	G	A	A	45	45	HTR1D	A	2	2
RYR2	6262	broad.mit.edu	36	1	235930374	235930374	+	Silent	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235930374C>T	uc001hyl.1	+	c.9351C>T	c.(9349-9351)TTC>TTT	p.F3117F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3117					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.277778	13.469901	14.268041	5	13	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Silent	SNP	235930374	235930374	14249	1	C	T	T	31	31	RYR2	T	1	1
NLRP3	114548	broad.mit.edu	36	1	245654548	245654548	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245654548G>T	uc001icr.1	+	c.1180G>T	c.(1180-1182)GCA>TCA	p.A394S	NLRP3_uc001ics.1_Missense_Mutation_p.A394S|NLRP3_uc001ict.1_Missense_Mutation_p.A392S|NLRP3_uc001icu.1_Missense_Mutation_p.A394S|NLRP3_uc001icw.1_Missense_Mutation_p.A394S|NLRP3_uc001icv.1_Missense_Mutation_p.A394S	NM_001079821	NP_004886	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	394	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)								412				0.333333	100.192918	102.83553	36	72	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		Missense_Mutation	SNP	245654548	245654548	10881	1	G	T	T	42	42	NLRP3	T	3	3
SSTR4	6754	broad.mit.edu	36	20	22964973	22964973	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:22964973G>A	uc002wsr.2	+	c.853G>A	c.(853-855)GTG>ATG	p.V285M		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	285	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					Esophageal Squamous(15;850 1104 16640)								0.414474	182.702873	183.671865	63	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22964973	22964973	15716	20	G	A	A	40	40	SSTR4	A	1	1
CLDN14	23562	broad.mit.edu	36	21	36755758	36755758	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:36755758C>T	uc002yvk.1	-	c.106G>A	c.(106-108)GTG>ATG	p.V36M	CLDN14_uc002yvn.1_Missense_Mutation_p.V36M|CLDN14_uc002yvo.1_Missense_Mutation_p.V36M|CLDN14_uc002yvl.1_Missense_Mutation_p.V36M|CLDN14_uc002yvm.1_Missense_Mutation_p.V36M|CLDN14_uc010gna.1_Missense_Mutation_p.V36M	NM_012130	NP_652763	O95500	CLD14_HUMAN	claudin 14	36	Extracellular (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.590909	37.462829	37.61974	13	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36755758	36755758	3611	21	C	T	T	19	19	CLDN14	T	1	1
LRP2	4036	broad.mit.edu	36	2	169738885	169738885	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169738885C>T	uc002ues.1	-	c.10804G>A	c.(10804-10806)GCC>ACC	p.A3602T		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3602	LDL-receptor class A 28.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)				p.A3602T(SW1710-Tumor)|p.A3602T(MDAPCA2B-Tumor)	2055				0.344828	81.932137	83.778058	30	57	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169738885	169738885	9329	2	C	T	T	27	27	LRP2	T	1	1
KCNS3	3790	broad.mit.edu	36	2	17975799	17975799	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17975799G>A	uc002rcv.1	+	c.43G>A	c.(43-45)GAA>AAA	p.E15K	KCNS3_uc002rcw.1_Missense_Mutation_p.E15K|KCNS3_uc010exq.1_Missense_Mutation_p.E15K	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	15	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.318182	130.920536	135.446468	49	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17975799	17975799	8395	2	G	A	A	41	41	KCNS3	A	2	2
APOB	338	broad.mit.edu	36	2	21081017	21081017	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:21081017C>T	uc002red.1	-	c.11824G>A	c.(11824-11826)GCC>ACC	p.A3942T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3942					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.294643	186.754614	195.211401	66	158	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21081017	21081017	796	2	C	T	T	28	28	APOB	T	2	2
ETV5	2119	broad.mit.edu	36	3	187280557	187280557	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187280557G>T	uc003fpy.1	-	c.519C>A	c.(517-519)TTC>TTA	p.F173L	ETV5_uc003fpz.1_Missense_Mutation_p.F131L	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	131					cellular response to oxidative stress|regulation of transcription, DNA-dependent	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)									170				0.166667	6.483864	9.013919	4	20	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		Missense_Mutation	SNP	187280557	187280557	5475	3	G	T	T	45	45	ETV5	T	3	3
CDCP1	64866	broad.mit.edu	36	3	45107924	45107924	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45107924C>T	uc003com.1	-	c.1738G>A	c.(1738-1740)GTG>ATG	p.V580M		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	580	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)	1														0.302326	33.576621	35.066678	13	30	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	Missense_Mutation	SNP	45107924	45107924	3222	3	C	T	T	19	19	CDCP1	T	1	1
TTC29	83894	broad.mit.edu	36	4	148044156	148044156	+	Silent	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:148044156G>A	uc003ikx.2	-	c.654C>T	c.(652-654)TAC>TAT	p.Y218Y	TTC29_uc003ikw.2_Silent_p.Y192Y|TTC29_uc010ipc.1_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.Y192Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	192	TPR 1.						binding				0	all_hematologic(180;0.151)													0.283019	39.221998	41.45192	15	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	148044156	148044156	17251	4	G	A	A	40	40	TTC29	A	1	1
TLR6	10333	broad.mit.edu	36	4	38507118	38507118	+	Silent	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38507118C>T	uc003gtm.2	-	c.372G>A	c.(370-372)AGG>AGA	p.R124R	TLR6_uc010ifg.1_Silent_p.R124R|TLR6_uc010ifh.1_Silent_p.R124R	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	124	LRR 4.|Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.298507	105.176099	110.022978	40	94	CC		KEEP	---	---	---	---	capture			Silent	SNP	38507118	38507118	16485	4	C	T	T	26	26	TLR6	T	2	2
PDGFRA	5156	broad.mit.edu	36	4	54849998	54849998	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:54849998G>C	uc003han.2	+	c.2840G>C	c.(2839-2841)AGT>ACT	p.S947T	PDGFRA_uc003haa.1_Missense_Mutation_p.S707T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	947	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)				Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.258065	47.170321	50.458957	16	46	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Missense_Mutation	SNP	54849998	54849998	12082	4	G	C	C	36	36	PDGFRA	C	3	3
PDCL2	132954	broad.mit.edu	36	4	56130751	56130751	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1831-01	TCGA-27-1831-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56130751T>C	uc003hbb.1	-	c.253A>G	c.(253-255)AAA>GAA	p.K85E		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	85											0	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)													0.333333	10.022312	10.243562	3	6	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		Missense_Mutation	SNP	56130751	56130751	12048	4	T	C	C	62	62	PDCL2	C	4	4
WFS1	7466	broad.mit.edu	36	4	6353513	6353513	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:6353513G>A	uc003gix.1	+	c.1090G>A	c.(1090-1092)GTG>ATG	p.V364M	WFS1_uc003giy.1_Missense_Mutation_p.V364M|WFS1_uc003giz.1_Missense_Mutation_p.V182M	NM_006005	NP_005996	O76024	WFS1_HUMAN	wolframin	364					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein maturation by protein folding|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2														0.323529	149.362258	154.063827	55	115	GG		KEEP	---	---	---	---	capture		Colorectal(103;0.0512)	Missense_Mutation	SNP	6353513	6353513	17934	4	G	A	A	44	44	WFS1	A	2	2
PPBP	5473	broad.mit.edu	36	4	75072176	75072176	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:75072176G>T	uc003hhj.1	-	c.206C>A	c.(205-207)ACC>AAC	p.T69N		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	69					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00136)													0.284722	110.698288	116.701321	41	103	GG		KEEP	---	---	---	---	capture	all cancers(17;0.00273)|Lung(101;0.196)		Missense_Mutation	SNP	75072176	75072176	12733	4	G	T	T	44	44	PPBP	T	3	3
FAT2	2196	broad.mit.edu	36	5	150927668	150927668	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150927668C>T	uc003lue.2	-	c.1018G>A	c.(1018-1020)GGC>AGC	p.G340S	FAT2_uc010jhx.1_Missense_Mutation_p.G340S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	340	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.319048	196.699321	202.784369	67	143	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150927668	150927668	5926	5	C	T	T	23	23	FAT2	T	1	1
WWC1	23286	broad.mit.edu	36	5	167804132	167804132	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1831-01	TCGA-27-1831-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:167804132A>G	uc003lzu.1	+	c.2489A>G	c.(2488-2490)GAG>GGG	p.E830G	WWC1_uc003lzv.1_Missense_Mutation_p.E736G|WWC1_uc003lzw.1_Missense_Mutation_p.E629G|WWC1_uc010jjf.1_Missense_Mutation_p.E102G	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	830	Glu-rich.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|breast(1)	3	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)												0.230769	7.164833	8.983499	6	20	AA		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	Missense_Mutation	SNP	167804132	167804132	17985	5	A	G	G	11	11	WWC1	G	4	4
CDC20B	166979	broad.mit.edu	36	5	54458911	54458911	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:54458911C>T	uc003jpo.1	-	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	CDC20B_uc003jpn.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.1_Missense_Mutation_p.R307Q	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B	307	WD 2.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)												0.348571	178.775507	182.292817	61	114	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.225)		Missense_Mutation	SNP	54458911	54458911	3188	5	C	T	T	23	23	CDC20B	T	1	1
MEF2C	4208	broad.mit.edu	36	5	88060877	88060877	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:88060877G>T	uc003kjl.1	-	c.908C>A	c.(907-909)ACC>AAC	p.T303N	MEF2C_uc003kji.1_Missense_Mutation_p.T285N|MEF2C_uc003kjj.1_Missense_Mutation_p.T293N|MEF2C_uc003kjk.1_Missense_Mutation_p.T293N|MEF2C_uc003kjm.1_Missense_Mutation_p.T283N	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	293				T->A: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7- mediated phosphorylation; when associated with A-300.	apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	promoter binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)												0.296296	12.828542	13.811529	8	19	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	Missense_Mutation	SNP	88060877	88060877	9846	5	G	T	T	44	44	MEF2C	T	3	3
C6orf125	84300	broad.mit.edu	36	6	33787435	33787435	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33787435C>G	uc003ofa.1	-	c.7G>C	c.(7-9)GCC>CCC	p.A3P	C6orf125_uc010jve.1_Non-coding_Transcript	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	hypothetical protein LOC84300	3											0												OREG0017354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.2	6.385964	8.064056	4	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33787435	33787435	2427	6	C	G	G	26	26	C6orf125	G	3	3
UNC5CL	222643	broad.mit.edu	36	6	41108805	41108805	+	Silent	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41108805G>A	uc003opi.1	-	c.745C>T	c.(745-747)CTG>TTG	p.L249L		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	249	Cytoplasmic (Potential).|Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.235294	8.390596	9.481013	4	13	GG		KEEP	---	---	---	---	capture			Silent	SNP	41108805	41108805	17552	6	G	A	A	34	34	UNC5CL	A	2	2
SERPINE1	5054	broad.mit.edu	36	7	100565733	100565733	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100565733G>A	uc003uxt.2	+	c.1018G>A	c.(1018-1020)GTC>ATC	p.V340I	SERPINE1_uc003uxu.1_3'UTR	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1	340					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)									0.133333	29.048093	50.573838	22	143	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100565733	100565733	14599	7	G	A	A	40	40	SERPINE1	A	1	1
RELN	5649	broad.mit.edu	36	7	102993156	102993156	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102993156C>T	uc003vca.1	-	c.5015G>A	c.(5014-5016)TGT>TAT	p.C1672Y	RELN_uc010liz.1_Missense_Mutation_p.C1672Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1672					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.20202	39.83693	48.012247	20	79	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	102993156	102993156	13689	7	C	T	T	17	17	RELN	T	2	2
FAM71F1	84691	broad.mit.edu	36	7	128142869	128142869	+	Silent	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128142869G>A	uc003vno.1	+	c.138G>A	c.(136-138)CCG>CCA	p.P46P	FAM71F1_uc010llo.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P46P	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	46											0														0.153527	59.030018	86.696791	37	204	GG		KEEP	---	---	---	---	capture			Silent	SNP	128142869	128142869	5836	7	G	A	A	37	37	FAM71F1	A	1	1
UBE3C	9690	broad.mit.edu	36	7	156733904	156733904	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:156733904G>A	uc010lqs.1	+	c.2563G>A	c.(2563-2565)GAC>AAC	p.D855N	UBE3C_uc003wni.2_Missense_Mutation_p.D218N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	855	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|ovary(1)	2		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)												0.242131	238.35032	263.361356	100	313	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	Missense_Mutation	SNP	156733904	156733904	17439	7	G	A	A	41	41	UBE3C	A	2	2
TMEM196	256130	broad.mit.edu	36	7	19731741	19731741	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:19731741C>T	uc003suq.1	-	c.176G>A	c.(175-177)CGA>CAA	p.R59Q	TMEM196_uc003sur.1_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	133						integral to membrane					0														0.221477	78.110621	88.736807	33	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19731741	19731741	16653	7	C	T	T	31	31	TMEM196	T	1	1
SDK1	221935	broad.mit.edu	36	7	4017226	4017226	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4017226C>T	uc003smx.1	+	c.2234C>T	c.(2233-2235)GCG>GTG	p.A745V	SDK1_uc010kso.1_Missense_Mutation_p.A21V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 isoform 1	745	Fibronectin type-III 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)												0.283019	36.904545	39.144974	15	38	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	Missense_Mutation	SNP	4017226	4017226	14454	7	C	T	T	27	27	SDK1	T	1	1
EGFR	1956	broad.mit.edu	36	7	55178574	55178574	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55178574G>A	uc003tqk.1	+	c.323G>A	c.(322-324)AGA>AAA	p.R108K	EGFR_uc003tqh.1_Missense_Mutation_p.R108K|EGFR_uc003tqi.1_Missense_Mutation_p.R108K|EGFR_uc003tqj.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	108	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(7)|p.V30_R297>G(5)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.408624	1209.034001	1216.148433	398	576	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55178574	55178574	5156	7	G	A	A	33	33	EGFR	A	2	2
ZNF3	7551	broad.mit.edu	36	7	99506992	99506992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99506992G>A	uc003usq.1	-	c.1051C>T	c.(1051-1053)CAG>TAG	p.Q351*	ZNF3_uc003usp.1_Intron|ZNF3_uc010lgj.1_Nonsense_Mutation_p.Q315*|ZNF3_uc003usr.1_Nonsense_Mutation_p.Q351*|ZNF3_uc003uss.1_Nonsense_Mutation_p.Q358*|ZNF3_uc003ust.2_Nonsense_Mutation_p.Q351*	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	351	C2H2-type 6.			GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).	cell differentiation|leukocyte activation|multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)												0.23348	133.567074	148.320079	53	174	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.129)		Nonsense_Mutation	SNP	99506992	99506992	18421	7	G	A	A	47	47	ZNF3	A	5	2
COL14A1	7373	broad.mit.edu	36	8	121336754	121336754	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121336754G>T	uc003yox.1	+	c.2847G>T	c.(2845-2847)AGG>AGT	p.R949S	COL14A1_uc003yoy.2_Missense_Mutation_p.R627S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	949	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)									1131				0.37788	236.495774	239.335643	82	135	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		Missense_Mutation	SNP	121336754	121336754	3809	8	G	T	T	43	43	COL14A1	T	3	3
EPPK1	83481	broad.mit.edu	36	8	145016253	145016253	+	Missense_Mutation	SNP	T	G	G			TCGA-27-1831-01	TCGA-27-1831-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145016253T>G	uc003zaa.1	-	c.3082A>C	c.(3082-3084)ACC>CCC	p.T1028P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1053	Plectin 20.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.333333	6.666829	7.260658	7	14	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145016253	145016253	5383	8	T	G	G	59	59	EPPK1	G	4	4
IFNE	338376	broad.mit.edu	36	9	21471272	21471272	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21471272C>T	uc003zpg.1	-	c.422G>A	c.(421-423)AGA>AAA	p.R141K	LOC554202_uc003zpe.1_Intron|LOC554202_uc003zpf.1_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	interferon, epsilon	141					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0														0.526718	443.250408	443.412068	138	124	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21471272	21471272	7848	9	C	T	T	32	32	IFNE	T	2	2
ZNF711	7552	broad.mit.edu	36	X	84412580	84412580	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84412580G>A	uc004eeq.1	+	c.1514G>A	c.(1513-1515)AGT>AAT	p.S505N	ZNF711_uc004eeo.1_Missense_Mutation_p.S459N|ZNF711_uc004eep.1_Missense_Mutation_p.S459N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	459					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.2	6.415588	7.671997	3	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84412580	84412580	18712	23	G	A	A	36	36	ZNF711	A	2	2
GUCY1A3	2982	broad.mit.edu	36	4	156870986	156870989	+	Splice_Site_Del	DEL	ATGT	-	-			TCGA-27-1831-01	TCGA-27-1831-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156870986_156870989delATGT	uc003iov.1	+	c.e11_splice_site			GUCY1A3_uc010iqd.1_3'UTR|GUCY1A3_uc003iow.1_3'UTR|GUCY1A3_uc003iox.1_3'UTR|GUCY1A3_uc003ioy.1_3'UTR|GUCY1A3_uc010iqe.1_3'UTR|GUCY1A3_uc003ioz.1_3'UTR|GUCY1A3_uc003ipa.1_Non-coding_Transcript|GUCY1A3_uc003ipb.1_3'UTR	NM_000856	NP_000847			guanylate cyclase 1, soluble, alpha 3 isoform A						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)										0.60			6	4				---	---	---	---	capture_indel			Splice_Site_Del	DEL	156870986	156870989	7174	4	ATGT	-	-	4	4	GUCY1A3	-	5	5
WWC2	80014	broad.mit.edu	36	4	184403569	184403570	+	Frame_Shift_Ins	INS	-	A	A			TCGA-27-1831-01	TCGA-27-1831-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:184403569_184403570insA	uc010irx.1	+	c.609_610insA	c.(607-612)GATAAAfs	p.D203fs	WWC2_uc003ivk.2_5'UTR|WWC2_uc003ivl.2_Non-coding_Transcript|WWC2_uc010iry.1_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	203_204										ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)										0.33			10	20				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	184403569	184403570	17986	4	-	A	A	49	49	WWC2	A	5	5
STAG3L2	442582	broad.mit.edu	36	7	73938493	73938500	+	Frame_Shift_Del	DEL	AGAGCTCC	-	-			TCGA-27-1831-01	TCGA-27-1831-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73938493_73938500delAGAGCTCC	uc003ubj.2	-	c.243_250delGGAGCTCT	c.(241-252)CTGGAGCTCTTCfs	p.L81fs	STAG3L2_uc010lbv.1_Non-coding_Transcript|STAG3L2_uc003ubi.2_Non-coding_Transcript	NM_001025202	NP_001020373	P0CL84	ST3L2_HUMAN	STAG3-like	81_84	SCD.					nucleus					0														0.50			4	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	73938493	73938500	15764	7	AGAGCTCC	-	-	3	3	STAG3L2	-	5	5
SATL1	340562	broad.mit.edu	36	X	84235807	84235807	+	Frame_Shift_Del	DEL	A	-	-			TCGA-27-1831-01	TCGA-27-1831-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84235807_84235807delA	uc004een.1	-	c.1298_1298delT	c.(1297-1299)GTCfs	p.V433fs		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like	433	N-acetyltransferase.|Acetyl-CoA binding (By similarity).						N-acetyltransferase activity			breast(2)	2														0.62			70	43				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	84235807	84235807	14336	23	A	-	-	10	10	SATL1	-	5	5
