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
AS3MT	57412	broad.mit.edu	36	10	104628200	104628200	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104628200C>T	uc001kwj.1	+	c.691C>T	c.(691-693)CGT>TGT	p.R231C	AS3MT_uc009xxh.1_Missense_Mutation_p.R229C|AS3MT_uc001kwk.1_Missense_Mutation_p.R229C	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	229					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)												0.511905	265.446049	265.466743	86	82	CC		KEEP	---	---	---	---	capture		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	Missense_Mutation	SNP	104628200	104628200	1023	10	C	T	T	19	19	AS3MT	T	1	1
ACRV1	56	broad.mit.edu	36	11	125047749	125047749	+	Silent	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125047749C>T	uc001qcs.1	-	c.747G>A	c.(745-747)ACG>ACA	p.T249T	CHEK1_uc001qcf.2_Intron|ACRV1_uc001qck.1_Silent_p.T160T|ACRV1_uc001qcl.1_Silent_p.T179T|ACRV1_uc001qcm.1_Silent_p.T105T|ACRV1_uc001qcn.1_Silent_p.T194T|ACRV1_uc001qco.1_Silent_p.T154T|ACRV1_uc001qcp.1_Silent_p.T65T|ACRV1_uc001qcq.1_Silent_p.T139T|ACRV1_uc001qcr.1_Silent_p.T230T	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	249					multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.32716	147.419988	151.711976	53	109	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	Silent	SNP	125047749	125047749	173	11	C	T	T	31	31	ACRV1	T	1	1
OR5D18	219438	broad.mit.edu	36	11	55344021	55344021	+	Missense_Mutation	SNP	T	A	A			TCGA-19-2620-01	TCGA-19-2620-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55344021T>A	uc001nhx.1	+	c.340T>A	c.(340-342)TTT>ATT	p.F114I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.309942	273.115235	284.127784	106	236	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55344021	55344021	11567	11	T	A	A	56	56	OR5D18	A	4	4
DCHS1	8642	broad.mit.edu	36	11	6605044	6605044	+	Silent	SNP	A	C	C			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6605044A>C	uc001mem.1	-	c.5802T>G	c.(5800-5802)GGT>GGG	p.G1934G		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1934	Cadherin 18.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.333333	10.987501	11.916452	11	22	AA		KEEP	---	---	---	---	capture		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	6605044	6605044	4458	11	A	C	C	6	6	DCHS1	C	4	4
PTPN11	5781	broad.mit.edu	36	12	111411293	111411293	+	Missense_Mutation	SNP	G	C	C			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111411293G>C	uc001ttx.1	+	c.1530G>C	c.(1528-1530)CAG>CAC	p.Q510H		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	514	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.Q510H(1)		haematopoietic_and_lymphoid_tissue(372)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|ovary(1)|NS(1)|kidney(1)	388									p.Q510H(HT115-Tumor)	372				0.313187	173.020042	178.667253	57	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111411293	111411293	13235	12	G	C	C	36	36	PTPN11	C	3	3
DNAH10	196385	broad.mit.edu	36	12	122959858	122959858	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122959858G>A	uc001uft.2	+	c.9559G>A	c.(9559-9561)GTG>ATG	p.V3187M		NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.416667	27.334249	27.482047	10	14	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122959858	122959858	4780	12	G	A	A	40	40	DNAH10	A	1	1
GPR133	283383	broad.mit.edu	36	12	130041536	130041536	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:130041536C>T	uc001uit.2	+	c.770C>T	c.(769-771)ACG>ATG	p.T257M		NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	257	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)													0.366667	30.916681	31.385767	11	19	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	Missense_Mutation	SNP	130041536	130041536	6917	12	C	T	T	19	19	GPR133	T	1	1
ADAMTS20	80070	broad.mit.edu	36	12	42119993	42119993	+	Nonsense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:42119993G>A	uc001rnn.1	-	c.2437C>T	c.(2437-2439)CGA>TGA	p.R813*	ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	813	Spacer.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)								2149				0.28	17.513843	18.602146	7	18	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0473)	Nonsense_Mutation	SNP	42119993	42119993	267	12	G	A	A	37	37	ADAMTS20	A	5	1
H1FNT	341567	broad.mit.edu	36	12	47009416	47009416	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47009416G>A	uc001rrm.1	+	c.75G>A	c.(73-75)GCG>GCA	p.A25A		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	25					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1														0.384615	14.175288	14.325754	5	8	GG		KEEP	---	---	---	---	capture			Silent	SNP	47009416	47009416	7201	12	G	A	A	38	38	H1FNT	A	1	1
B4GALNT1	2583	broad.mit.edu	36	12	56308937	56308937	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56308937G>A	uc001spg.1	-	c.828C>T	c.(826-828)AGC>AGT	p.S276S		NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	276	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)													0.321429	70.292383	72.673124	27	57	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.109)		Silent	SNP	56308937	56308937	1287	12	G	A	A	38	38	B4GALNT1	A	1	1
PACS2	23241	broad.mit.edu	36	14	104930166	104930166	+	Silent	SNP	C	G	G			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104930166C>G	uc001yqu.2	+	c.2421C>G	c.(2419-2421)GGC>GGG	p.G807G	PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqv.2_Silent_p.G796G|PACS2_uc001yqt.2_Silent_p.G792G	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	792					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)												0.233766	49.037392	54.116499	18	59	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	Silent	SNP	104930166	104930166	11789	14	C	G	G	27	27	PACS2	G	3	3
MDGA2	161357	broad.mit.edu	36	14	46458985	46458985	+	Missense_Mutation	SNP	A	G	G			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:46458985A>G	uc001wwj.2	-	c.2011T>C	c.(2011-2013)TAC>CAC	p.Y671H	MDGA2_uc001wwi.2_Missense_Mutation_p.Y442H|MDGA2_uc010ani.1_Missense_Mutation_p.Y231H	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	671					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.403846	68.667799	69.087219	21	31	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46458985	46458985	9796	14	A	G	G	16	16	MDGA2	G	4	4
SYNE2	23224	broad.mit.edu	36	14	63755827	63755827	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63755827G>A	uc001xgl.1	+	c.19806G>A	c.(19804-19806)ATG>ATA	p.M6602I	SYNE2_uc001xgm.1_Missense_Mutation_p.M6579I|SYNE2_uc010apy.1_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.1_Missense_Mutation_p.M1541I|SYNE2_uc001xgo.1_Non-coding_Transcript|SYNE2_uc010aqa.1_Missense_Mutation_p.M549I|SYNE2_uc001xgq.1_Missense_Mutation_p.M944I|SYNE2_uc001xgr.1_Missense_Mutation_p.M362I|SYNE2_uc001xgs.1_Missense_Mutation_p.M236I|SYNE2_uc001xgt.1_Missense_Mutation_p.M110I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6579	Cytoplasmic (Potential).|Spectrin 9.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14														0.358491	54.409805	55.344579	19	34	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63755827	63755827	15967	14	G	A	A	47	47	SYNE2	A	2	2
LTBP2	4053	broad.mit.edu	36	14	74148253	74148253	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74148253C>T	uc001xqa.1	-	c.148G>A	c.(148-150)GCG>ACG	p.A50T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	50					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1														0.529412	54.558474	54.584989	18	16	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	Missense_Mutation	SNP	74148253	74148253	9450	14	C	T	T	27	27	LTBP2	T	1	1
GP2	2813	broad.mit.edu	36	16	20236147	20236147	+	Silent	SNP	G	T	T			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20236147G>T	uc002dgv.1	-	c.1314C>A	c.(1312-1314)TCC>TCA	p.S438S	GP2_uc002dgw.1_Silent_p.S435S|GP2_uc002dgx.1_Silent_p.S291S|GP2_uc002dgy.1_Silent_p.S288S	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	438	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)	3														0.304348	97.079851	101.008607	35	80	GG		KEEP	---	---	---	---	capture			Silent	SNP	20236147	20236147	6856	16	G	T	T	35	35	GP2	T	3	3
DNAH3	55567	broad.mit.edu	36	16	20960862	20960862	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20960862G>A	uc002did.1	-	c.4626C>T	c.(4624-4626)CCC>CCT	p.P1542P		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1542	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.345794	108.238266	110.486839	37	70	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Silent	SNP	20960862	20960862	4786	16	G	A	A	39	39	DNAH3	A	1	1
TRIM72	493829	broad.mit.edu	36	16	31138317	31138317	+	Missense_Mutation	SNP	C	A	A			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31138317C>A	uc002ebn.1	+	c.693C>A	c.(691-693)GAC>GAA	p.D231E	PYDC1_uc002ebo.1_5'Flank|PYDC1_uc010cal.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	231					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0														0.266667	7.267827	8.850747	8	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31138317	31138317	17094	16	C	A	A	17	17	TRIM72	A	3	3
CHTF18	63922	broad.mit.edu	36	16	779298	779298	+	Missense_Mutation	SNP	C	G	G			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:779298C>G	uc002ckf.2	+	c.458C>G	c.(457-459)TCC>TGC	p.S153C	CHTF18_uc002cke.2_Missense_Mutation_p.S125C|CHTF18_uc010brf.1_5'UTR|CHTF18_uc002ckg.2_Intron|RPUSD1_uc002cka.1_5'Flank|RPUSD1_uc002ckb.1_5'Flank|RPUSD1_uc002ckc.1_5'Flank|RPUSD1_uc002ckd.1_5'Flank|CHTF18_uc010bre.1_Non-coding_Transcript	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	125					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)												0.266667	11.893774	12.631011	4	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	779298	779298	3548	16	C	G	G	30	30	CHTF18	G	3	3
WNT9B	7484	broad.mit.edu	36	17	42304991	42304991	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42304991C>T	uc002ikw.1	+	c.187C>T	c.(187-189)CGG>TGG	p.R63W	WNT9B_uc002ikx.1_Missense_Mutation_p.R63W	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	63					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding				0														0.303571	85.608296	89.465653	34	78	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0257)		Missense_Mutation	SNP	42304991	42304991	17973	17	C	T	T	27	27	WNT9B	T	1	1
IGF2BP1	10642	broad.mit.edu	36	17	44473831	44473831	+	Missense_Mutation	SNP	A	C	C			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44473831A>C	uc002iom.1	+	c.911A>C	c.(910-912)CAA>CCA	p.Q304P	IGF2BP1_uc010dbj.1_Missense_Mutation_p.Q165P	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	304	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.293103	106.070062	110.47734	34	82	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44473831	44473831	7874	17	A	C	C	5	5	IGF2BP1	C	4	4
SDK2	54549	broad.mit.edu	36	17	68930064	68930064	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:68930064C>T	uc010dfm.1	-	c.874G>A	c.(874-876)GTC>ATC	p.V292I	SDK2_uc010dfn.1_Missense_Mutation_p.V292I			Q58EX2	SDK2_HUMAN	Uncharacterized protein SDK2.	668	Extracellular (Potential).|Fibronectin type-III 1.				cell adhesion	integral to membrane				ovary(2)	2														0.344538	111.524329	114.070991	41	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68930064	68930064	14455	17	C	T	T	19	19	SDK2	T	1	1
RIOK3	8780	broad.mit.edu	36	18	19297042	19297042	+	Splice_Site_SNP	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19297042G>A	uc002kui.2	+	c.179_splice	c.e2+1	p.A60_splice	RIOK3_uc010dls.1_Splice_Site_SNP_p.A60_splice	NM_003831	NP_003822			sudD suppressor of bimD6 homolog						chromosome segregation|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)									276				0.369048	82.595984	83.902932	31	53	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	19297042	19297042	13856	18	G	A	A	40	40	RIOK3	A	5	1
LAMA1	284217	broad.mit.edu	36	18	6989962	6989962	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6989962C>T	uc002knm.1	-	c.4417G>A	c.(4417-4419)GAT>AAT	p.D1473N		NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1473	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.272727	29.077687	31.131176	12	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6989962	6989962	8928	18	C	T	T	31	31	LAMA1	T	1	1
DOCK6	57572	broad.mit.edu	36	19	11214971	11214971	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11214971C>T	uc002mqs.2	-	c.1349G>A	c.(1348-1350)CGT>CAT	p.R450H		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	450					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3												OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.333333	9.591476	9.888955	4	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11214971	11214971	4875	19	C	T	T	19	19	DOCK6	T	1	1
CC2D1A	54862	broad.mit.edu	36	19	13901917	13901917	+	Missense_Mutation	SNP	C	G	G			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13901917C>G	uc002mxo.1	+	c.2737C>G	c.(2737-2739)CTG>GTG	p.L913V	CC2D1A_uc002mxp.1_Missense_Mutation_p.L912V|CC2D1A_uc010dzh.1_Missense_Mutation_p.L482V	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	913					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0														0.185185	6.754324	9.274152	5	22	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		Missense_Mutation	SNP	13901917	13901917	2846	19	C	G	G	28	28	CC2D1A	G	3	3
OR7A10	390892	broad.mit.edu	36	19	14813342	14813342	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14813342G>A	uc002mzx.1	-	c.348C>T	c.(346-348)ACC>ACT	p.T116T		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.258333	82.774617	89.120748	31	89	GG		KEEP	---	---	---	---	capture			Silent	SNP	14813342	14813342	11625	19	G	A	A	39	39	OR7A10	A	1	1
NUDT19	390916	broad.mit.edu	36	19	37874940	37874940	+	Silent	SNP	C	G	G			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37874940C>G	uc010edf.1	+	c.234C>G	c.(232-234)GGC>GGG	p.G78G		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	78	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)													0.3125	7.714626	8.248782	5	11	CC		KEEP	---	---	---	---	capture			Silent	SNP	37874940	37874940	11141	19	C	G	G	26	26	NUDT19	G	3	3
FCGBP	8857	broad.mit.edu	36	19	45056057	45056057	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45056057G>A	uc002omp.2	-	c.14425C>T	c.(14425-14427)CCG>TCG	p.P4809S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4809						extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)													0.193277	47.75657	58.206944	23	96	GG		KEEP	---	---	---	---	capture	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		Missense_Mutation	SNP	45056057	45056057	6015	19	G	A	A	43	43	FCGBP	A	2	2
GPR61	83873	broad.mit.edu	36	1	109887563	109887563	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109887563G>A	uc001dxy.2	+	c.396G>A	c.(394-396)TCG>TCA	p.S132S	GPR61_uc009wff.1_Silent_p.S132S	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	132	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)												0.319527	156.601379	161.486593	54	115	GG		KEEP	---	---	---	---	capture		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	Silent	SNP	109887563	109887563	6977	1	G	A	A	39	39	GPR61	A	1	1
PTCHD2	57540	broad.mit.edu	36	1	11484638	11484638	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11484638G>A	uc001ash.2	+	c.1002G>A	c.(1000-1002)TCG>TCA	p.S334S	PTCHD2_uc001asi.1_Silent_p.S334S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	334	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)												0.58	81.167041	81.444269	29	21	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	Silent	SNP	11484638	11484638	13187	1	G	A	A	38	38	PTCHD2	A	1	1
TTF2	8458	broad.mit.edu	36	1	117419581	117419581	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:117419581G>A	uc001egy.1	+	c.852G>A	c.(850-852)GAG>GAA	p.E284E	TTF2_uc001egx.1_Silent_p.E284E	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	284					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|RNA polymerase II transcription termination factor activity|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)												0.27044	109.153051	116.712501	43	116	GG		KEEP	---	---	---	---	capture		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	Silent	SNP	117419581	117419581	17274	1	G	A	A	36	36	TTF2	A	2	2
FLG	2312	broad.mit.edu	36	1	150550143	150550143	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150550143G>A	uc001ezu.1	-	c.3843C>T	c.(3841-3843)GAC>GAT	p.D1281D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1281	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.351955	354.255995	361.170181	126	232	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Silent	SNP	150550143	150550143	6160	1	G	A	A	40	40	FLG	A	1	1
HMCN1	83872	broad.mit.edu	36	1	184317138	184317138	+	Nonsense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184317138C>T	uc001grq.1	+	c.8776C>T	c.(8776-8778)CGA>TGA	p.R2926*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	2926	Ig-like C2-type 27.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.333333	119.120966	122.214165	42	84	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	184317138	184317138	7511	1	C	T	T	19	19	HMCN1	T	5	1
HMCN1	83872	broad.mit.edu	36	1	184349808	184349808	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184349808G>A	uc001grq.1	+	c.11206G>A	c.(11206-11208)GCT>ACT	p.A3736T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	3736	Ig-like C2-type 36.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.259887	112.107563	121.324043	46	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184349808	184349808	7511	1	G	A	A	38	38	HMCN1	A	1	1
TRAF3IP3	80342	broad.mit.edu	36	1	208021383	208021383	+	Missense_Mutation	SNP	A	T	T			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:208021383A>T	uc001hho.1	+	c.1520A>T	c.(1519-1521)CAC>CTC	p.H507L	TRAF3IP3_uc001hhn.1_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.1_Missense_Mutation_p.H507L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	507	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2														0.150943	29.235351	41.60456	16	90	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.045)	Missense_Mutation	SNP	208021383	208021383	16986	1	A	T	T	6	6	TRAF3IP3	T	4	4
CHD5	26038	broad.mit.edu	36	1	6108495	6108495	+	Missense_Mutation	SNP	A	C	C			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6108495A>C	uc001amb.1	-	c.4089T>G	c.(4087-4089)GAT>GAG	p.D1363E	CHD5_uc001alz.1_Missense_Mutation_p.D220E|CHD5_uc001ama.1_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript|CHD5_uc009vlx.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1363					chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)								2304				0.183333	12.983205	18.81666	11	49	AA		KEEP	---	---	---	---	capture		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	Missense_Mutation	SNP	6108495	6108495	3462	1	A	C	C	8	8	CHD5	C	4	4
LRRC8B	23507	broad.mit.edu	36	1	89821561	89821561	+	Missense_Mutation	SNP	A	G	G			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89821561A>G	uc001dnh.1	+	c.764A>G	c.(763-765)TAT>TGT	p.Y255C	LRRC8B_uc001dni.1_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.1_Missense_Mutation_p.Y255C	NM_015350	NP_056165	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	255						integral to membrane				ovary(2)	2		all_lung(203;0.17)												0.380952	157.786644	159.346758	48	78	AA		KEEP	---	---	---	---	capture		all cancers(265;0.00515)|Epithelial(280;0.0241)	Missense_Mutation	SNP	89821561	89821561	9398	1	A	G	G	16	16	LRRC8B	G	4	4
SYCP2	10388	broad.mit.edu	36	20	57922694	57922694	+	Missense_Mutation	SNP	G	T	T			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57922694G>T	uc002yaz.1	-	c.642C>A	c.(640-642)GAC>GAA	p.D214E	SYCP2_uc010gju.1_Missense_Mutation_p.D115E	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	214					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)	3	all_lung(29;0.00344)													0.333333	23.491893	24.082361	8	16	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		Missense_Mutation	SNP	57922694	57922694	15953	20	G	T	T	36	36	SYCP2	T	3	3
ARFGAP1	55738	broad.mit.edu	36	20	61377995	61377995	+	Silent	SNP	C	A	A			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61377995C>A	uc002yel.1	+	c.168C>A	c.(166-168)CTC>CTA	p.L56L	ARFGAP1_uc002yem.1_Silent_p.L56L|ARFGAP1_uc002yen.1_Silent_p.L56L	NM_175609	NP_783202	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	56	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)													0.392857	56.838479	57.400286	22	34	CC		KEEP	---	---	---	---	capture			Silent	SNP	61377995	61377995	860	20	C	A	A	29	29	ARFGAP1	A	3	3
IL1RL1	9173	broad.mit.edu	36	2	102326027	102326027	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2620-01	TCGA-19-2620-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102326027T>C	uc002tbu.1	+	c.782T>C	c.(781-783)TTT>TCT	p.F261S	IL18R1_uc002tbw.2_Intron|IL1RL1_uc002tbv.1_Missense_Mutation_p.F261S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	261	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			ovary(1)|central_nervous_system(1)|skin(1)	3														0.353293	192.285353	195.450296	59	108	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102326027	102326027	7964	2	T	C	C	64	64	IL1RL1	C	4	4
LPIN1	23175	broad.mit.edu	36	2	11860542	11860542	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:11860542G>A	uc002rbt.1	+	c.1837G>A	c.(1837-1839)GCA>ACA	p.A613T		NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	613					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.253676	161.950301	176.930463	69	203	GG		KEEP	---	---	---	---	capture		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	Missense_Mutation	SNP	11860542	11860542	9291	2	G	A	A	38	38	LPIN1	A	1	1
LRP2	4036	broad.mit.edu	36	2	169774395	169774395	+	Nonsense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169774395G>A	uc002ues.1	-	c.6283C>T	c.(6283-6285)CGA>TGA	p.R2095*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2095	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)					2055				0.372881	62.63463	63.472124	22	37	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Nonsense_Mutation	SNP	169774395	169774395	9329	2	G	A	A	40	40	LRP2	A	5	1
AOX1	316	broad.mit.edu	36	2	201186843	201186843	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201186843C>T	uc002uvx.1	+	c.1520C>T	c.(1519-1521)GCG>GTG	p.A507V	AOX1_uc010fsu.1_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	507					inflammatory response|oxidation-reduction process|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)	5					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)									0.119565	12.058951	25.128984	11	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	201186843	201186843	739	2	C	T	T	27	27	AOX1	T	1	1
USP34	9736	broad.mit.edu	36	2	61369510	61369510	+	Missense_Mutation	SNP	G	C	C			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:61369510G>C	uc002sbe.1	-	c.4555C>G	c.(4555-4557)CTA>GTA	p.L1519V		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1519					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9														0.25	8.906788	10.302006	6	18	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.229)		Missense_Mutation	SNP	61369510	61369510	17629	2	G	C	C	34	34	USP34	C	3	3
SIDT1	54847	broad.mit.edu	36	3	114734763	114734763	+	Missense_Mutation	SNP	A	C	C			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114734763A>C	uc003eak.1	+	c.205A>C	c.(205-207)ACC>CCC	p.T69P	SIDT1_uc003eaj.1_Missense_Mutation_p.T69P	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	69	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5														0.5	6.356275	6.356275	5	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114734763	114734763	14797	3	A	C	C	6	6	SIDT1	C	4	4
SLCO2A1	6578	broad.mit.edu	36	3	135175305	135175305	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:135175305G>A	uc003eqa.2	-	c.289C>T	c.(289-291)CGT>TGT	p.R97C	SLCO2A1_uc003eqb.2_Missense_Mutation_p.R97C|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	97	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1														0.3125	26.740639	27.740952	10	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135175305	135175305	15223	3	G	A	A	39	39	SLCO2A1	A	1	1
BCHE	590	broad.mit.edu	36	3	167031409	167031409	+	Missense_Mutation	SNP	G	T	T			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:167031409G>T	uc003fem.2	-	c.107C>A	c.(106-108)ACA>AAA	p.T36K	BCHE_uc003fen.2_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	36					acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.3375	78.699627	80.568357	27	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167031409	167031409	1379	3	G	T	T	48	48	BCHE	T	3	3
GHSR	2693	broad.mit.edu	36	3	173648287	173648287	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173648287G>A	uc003fib.1	-	c.611C>T	c.(610-612)GCG>GTG	p.A204V	GHSR_uc003fic.1_Missense_Mutation_p.A204V	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	204	Extracellular (Potential).		A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin).		actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(172;0.00143)|Breast(254;0.197)					Esophageal Squamous(93;641 1401 20883 29581 34638)								0.3375	68.893612	70.765193	27	53	GG		KEEP	---	---	---	---	capture	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		Missense_Mutation	SNP	173648287	173648287	6643	3	G	A	A	38	38	GHSR	A	1	1
OR5H2	79310	broad.mit.edu	36	3	99484614	99484614	+	Missense_Mutation	SNP	T	A	A			TCGA-19-2620-01	TCGA-19-2620-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99484614T>A	uc003dsj.1	+	c.193T>A	c.(193-195)TAC>AAC	p.Y65N		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.31383	323.829197	335.418172	118	258	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99484614	99484614	11572	3	T	A	A	57	57	OR5H2	A	4	4
OR5H2	79310	broad.mit.edu	36	3	99485118	99485118	+	Missense_Mutation	SNP	A	C	C			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99485118A>C	uc003dsj.1	+	c.697A>C	c.(697-699)AAG>CAG	p.K233Q		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.295775	64.364826	67.003288	21	50	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99485118	99485118	11572	3	A	C	C	1	1	OR5H2	C	4	4
PCDH18	54510	broad.mit.edu	36	4	138671373	138671373	+	Silent	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:138671373C>T	uc003ihe.2	-	c.1320G>A	c.(1318-1320)AGG>AGA	p.R440R	PCDH18_uc003ihf.2_Silent_p.R433R|PCDH18_uc003ihg.2_Silent_p.R220R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	440	Cadherin 4.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.304569	167.062072	173.754753	60	137	CC		KEEP	---	---	---	---	capture			Silent	SNP	138671373	138671373	11933	4	C	T	T	22	22	PCDH18	T	2	2
CSN3	1448	broad.mit.edu	36	4	71149545	71149545	+	Missense_Mutation	SNP	G	A	A	rs1048152	by-cluster,by-frequency,by-hapmap,by-1000genomes	TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:71149545G>A	uc003hfe.2	+	c.329G>A	c.(328-330)CGC>CAC	p.R110H		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa	110						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.372093	92.585437	93.818333	32	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71149545	71149545	4090	4	G	A	A	38	38	CSN3	A	1	1
CCDC158	339965	broad.mit.edu	36	4	77507554	77507554	+	Nonsense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:77507554G>A	uc003hkb.2	-	c.1747C>T	c.(1747-1749)CGA>TGA	p.R583*	CCDC158_uc010ijg.1_Intron	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	hypothetical protein LOC339965	583	Potential.									ovary(2)|pancreas(1)	3														0.290323	117.830151	123.92609	45	110	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	77507554	77507554	2912	4	G	A	A	40	40	CCDC158	A	5	1
SEC31A	22872	broad.mit.edu	36	4	84018963	84018963	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84018963C>T	uc003hnf.1	-	c.346G>A	c.(346-348)GCC>ACC	p.A116T	SEC31A_uc003hng.1_Missense_Mutation_p.A116T|SEC31A_uc003hnh.1_Missense_Mutation_p.A116T|SEC31A_uc003hni.1_Missense_Mutation_p.A116T|SEC31A_uc003hnj.1_Missense_Mutation_p.A116T|SEC31A_uc003hnk.1_Missense_Mutation_p.A116T|SEC31A_uc003hnl.1_Missense_Mutation_p.A116T|SEC31A_uc003hnm.1_Missense_Mutation_p.A116T|SEC31A_uc003hnn.1_Missense_Mutation_p.A116T|SEC31A_uc003hno.2_Missense_Mutation_p.A116T	NM_001077207	NP_055748	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	116					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)												0.12987	24.086639	44.628012	20	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84018963	84018963	14484	4	C	T	T	25	25	SEC31A	T	2	2
ANKHD1-EIF4EBP3	404734	broad.mit.edu	36	5	139869789	139869789	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139869789G>A	uc003lfs.1	+	c.3943G>A	c.(3943-3945)GGA>AGA	p.G1315R	ANKHD1_uc003lfq.1_Missense_Mutation_p.G1334R|ANKHD1_uc003lfr.1_Missense_Mutation_p.G1315R|ANKHD1_uc003lft.1_Missense_Mutation_p.G526R|ANKHD1_uc003lfu.1_Missense_Mutation_p.G795R|ANKHD1_uc003lfv.1_Missense_Mutation_p.G392R|ANKHD1_uc003lfw.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1315						cytoplasm|nucleus	RNA binding			ovary(6)	6														0.266055	75.32515	80.715687	29	80	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	139869789	139869789	632	5	G	A	A	43	43	ANKHD1-EIF4EBP3	A	2	2
PCDHA4	56144	broad.mit.edu	36	5	140168870	140168870	+	Silent	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140168870C>T	uc003lhi.1	+	c.1914C>T	c.(1912-1914)GAC>GAT	p.D638D	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Silent_p.D638D|PCDHA4_uc003lhg.1_Silent_p.D638D	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	638	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4														0.244094	70.264533	77.843053	31	96	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140168870	140168870	11946	5	C	T	T	19	19	PCDHA4	T	1	1
PCDHGB3	56102	broad.mit.edu	36	5	140731721	140731721	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140731721C>T	uc003ljw.1	+	c.1576C>T	c.(1576-1578)CGT>TGT	p.R526C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc003ljv.1_Missense_Mutation_p.R526C|PCDHGA6_uc003ljx.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	526	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.337662	70.728547	72.522074	26	51	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140731721	140731721	11984	5	C	T	T	27	27	PCDHGB3	T	1	1
GABRA6	2559	broad.mit.edu	36	5	161049315	161049315	+	Missense_Mutation	SNP	G	T	T			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161049315G>T	uc003lyu.2	+	c.625G>T	c.(625-627)GAT>TAT	p.D209Y	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	209	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)			Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.264706	44.915695	48.321098	18	50	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	161049315	161049315	6416	5	G	T	T	45	45	GABRA6	T	3	3
MYO10	4651	broad.mit.edu	36	5	16721507	16721507	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16721507C>T	uc003jft.2	-	c.5954G>A	c.(5953-5955)CGT>CAT	p.R1985H	MYO10_uc010itx.1_Missense_Mutation_p.R1607H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1985	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.367187	134.207135	136.185406	47	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16721507	16721507	10457	5	C	T	T	19	19	MYO10	T	1	1
CDH9	1007	broad.mit.edu	36	5	26921722	26921722	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:26921722G>A	uc003jgs.1	-	c.1640C>T	c.(1639-1641)GCA>GTA	p.A547V		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	547	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.290909	82.050467	86.362107	32	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26921722	26921722	3246	5	G	A	A	46	46	CDH9	A	2	2
MAN1A1	4121	broad.mit.edu	36	6	119711596	119711596	+	Missense_Mutation	SNP	C	G	G			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:119711596C>G	uc003pym.1	-	c.334G>C	c.(334-336)GAC>CAC	p.D112H	MAN1A1_uc010kei.1_Missense_Mutation_p.D112H	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	112	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(87;0.173)				Ovarian(136;8 1825 12608 33541 47587)								0.28	37.780769	39.994572	14	36	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	Missense_Mutation	SNP	119711596	119711596	9593	6	C	G	G	30	30	MAN1A1	G	3	3
ECT2L	345930	broad.mit.edu	36	6	139225512	139225512	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:139225512G>A	uc003qif.1	+	c.1254G>A	c.(1252-1254)ACG>ACA	p.T418T		NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	hypothetical protein LOC345930	418					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0														0.3	91.310876	95.256825	33	77	GG		KEEP	---	---	---	---	capture			Silent	SNP	139225512	139225512	5089	6	G	A	A	39	39	ECT2L	A	1	1
MAP3K4	4216	broad.mit.edu	36	6	161390024	161390024	+	Missense_Mutation	SNP	A	G	G			TCGA-19-2620-01	TCGA-19-2620-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:161390024A>G	uc003qtn.1	+	c.730A>G	c.(730-732)AGG>GGG	p.R244G	MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.1_Missense_Mutation_p.R244G	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	244					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)								511				0.291667	34.928011	36.795825	14	34	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	Missense_Mutation	SNP	161390024	161390024	9635	6	A	G	G	7	7	MAP3K4	G	4	4
ENPP5	59084	broad.mit.edu	36	6	46243778	46243778	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46243778C>T	uc003oxz.1	-	c.181G>A	c.(181-183)GTG>ATG	p.V61M	ENPP5_uc003oya.1_Missense_Mutation_p.V61M|ENPP5_uc010jzc.1_Missense_Mutation_p.V61M	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	61						extracellular region|integral to membrane	hydrolase activity				0														0.272727	46.324275	49.395029	18	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46243778	46243778	5326	6	C	T	T	19	19	ENPP5	T	1	1
LGSN	51557	broad.mit.edu	36	6	64049013	64049013	+	Missense_Mutation	SNP	T	A	A			TCGA-19-2620-01	TCGA-19-2620-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:64049013T>A	uc003peh.1	-	c.402A>T	c.(400-402)GAA>GAT	p.E134D	LGSN_uc003pei.1_Missense_Mutation_p.E134D	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	134					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(1)	1					L-Glutamic Acid(DB00142)									0.318182	109.097686	112.979535	42	90	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64049013	64049013	9085	6	T	A	A	64	64	LGSN	A	4	4
EPHA7	2045	broad.mit.edu	36	6	94013346	94013346	+	Missense_Mutation	SNP	C	G	G			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:94013346C>G	uc003poe.1	-	c.2611G>C	c.(2611-2613)GAT>CAT	p.D871H	EPHA7_uc003pof.1_Missense_Mutation_p.D866H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7	871	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)								635				0.285714	91.717542	96.037179	30	75	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0847)	Missense_Mutation	SNP	94013346	94013346	5365	6	C	G	G	30	30	EPHA7	G	3	3
NPC1L1	29881	broad.mit.edu	36	7	44545774	44545774	+	Silent	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44545774G>A	uc003tlb.1	-	c.747C>T	c.(745-747)GAC>GAT	p.D249D	NPC1L1_uc003tlc.1_Silent_p.D249D|NPC1L1_uc003tld.2_Silent_p.D249D	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	249	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)	4					Ezetimibe(DB00973)									0.337209	76.752224	78.766172	29	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	44545774	44545774	10975	7	G	A	A	40	40	NPC1L1	A	1	1
EGFR	1956	broad.mit.edu	36	7	55200537	55200537	+	Missense_Mutation	SNP	G	T	T			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200537G>T	uc003tqk.1	+	c.1793G>T	c.(1792-1794)GGA>GTA	p.G598V	EGFR_uc003tqi.1_Missense_Mutation_p.G598V|EGFR_uc003tqj.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	598	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.G598V(16)		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)			0.118731	105.86337	245.462887	116	861	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	55200537	55200537	5156	7	G	T	T	41	41	EGFR	T	3	3
CACNA2D1	781	broad.mit.edu	36	7	81436159	81436159	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:81436159C>T	uc003uhr.1	-	c.2375G>A	c.(2374-2376)GGG>GAG	p.G792E		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	804	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.231884	42.264138	46.807061	16	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81436159	81436159	2664	7	C	T	T	22	22	CACNA2D1	T	2	2
WDYHV1	55093	broad.mit.edu	36	8	124522747	124522747	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124522747G>A	uc003yqn.1	+	c.529G>A	c.(529-531)GAT>AAT	p.D177N	WDYHV1_uc003yqo.1_Non-coding_Transcript	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	177					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)	1														0.363636	24.294879	24.654457	8	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124522747	124522747	17917	8	G	A	A	37	37	WDYHV1	A	1	1
SLC45A4	57210	broad.mit.edu	36	8	142297443	142297443	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:142297443G>A	uc003ywd.1	-	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M	SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	493					transmembrane transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)													0.211268	32.512528	37.967887	15	56	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0493)		Missense_Mutation	SNP	142297443	142297443	15140	8	G	A	A	40	40	SLC45A4	A	1	1
RHPN1	114822	broad.mit.edu	36	8	144533226	144533226	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144533226G>A	uc003yyb.1	+	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	344	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)													0.5	19.823552	19.823552	7	7	GG		KEEP	---	---	---	---	capture	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		Missense_Mutation	SNP	144533226	144533226	13825	8	G	A	A	44	44	RHPN1	A	2	2
EPPK1	83481	broad.mit.edu	36	8	145015572	145015572	+	Missense_Mutation	SNP	G	C	C			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145015572G>C	uc003zaa.1	-	c.3763C>G	c.(3763-3765)CTG>GTG	p.L1255V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1280	Plectin 22.					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)													0.25	15.073888	17.408457	10	30	GG		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	145015572	145015572	5383	8	G	C	C	34	34	EPPK1	C	3	3
CHMP4C	92421	broad.mit.edu	36	8	82807468	82807468	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:82807468G>A	uc003ycl.1	+	c.52G>A	c.(52-54)GCC>ACC	p.A18T		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	18	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2														0.555556	16.975941	17.000096	5	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82807468	82807468	3492	8	G	A	A	34	34	CHMP4C	A	2	2
PALM2-AKAP2	445815	broad.mit.edu	36	9	111939017	111939017	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111939017C>T	uc004bei.2	+	c.2068C>T	c.(2068-2070)CGC>TGC	p.R690C	PALM2-AKAP2_uc004bek.2_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bej.2_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|AKAP2_uc004bem.1_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|PALM2-AKAP2_uc004ben.1_Missense_Mutation_p.R227C	NM_001004065	NP_001004065	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 1	227	Potential.						enzyme binding			ovary(3)|central_nervous_system(2)	5														0.345238	84.253949	86.028517	29	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111939017	111939017	11826	9	C	T	T	23	23	PALM2-AKAP2	T	1	1
KLHL13	90293	broad.mit.edu	36	X	116927764	116927764	+	Silent	SNP	C	T	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:116927764C>T	uc004eql.1	-	c.894G>A	c.(892-894)ACG>ACA	p.T298T	KLHL13_uc004eqk.1_Silent_p.T247T|KLHL13_uc004eqm.1_Silent_p.T247T	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	298					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)	1														0.181818	43.635509	54.095621	20	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	116927764	116927764	8681	23	C	T	T	23	23	KLHL13	T	1	1
MED23	9439	broad.mit.edu	36	6	131970837	131970837	+	Frame_Shift_Del	DEL	C	-	-			TCGA-19-2620-01	TCGA-19-2620-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:131970837_131970837delC	uc003qcs.1	-	c.1145_1145delG	c.(1144-1146)GGAfs	p.G382fs	MED23_uc003qcq.1_Frame_Shift_Del_p.G388fs|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	382					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity			ovary(1)|kidney(1)	2	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)										0.39			41	65				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	131970837	131970837	9830	6	C	-	-	30	30	MED23	-	5	5
