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
DLG5	9231	broad.mit.edu	36	10	79241706	79241706	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:79241706C>G	uc001jzk.1	-	c.4304G>C	c.(4303-4305)AGC>ACC	p.S1435T	DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzi.1_Missense_Mutation_p.S190T|DLG5_uc001jzj.1_Missense_Mutation_p.S850T	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1435					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)													0.277778	8.302387	9.154724	5	13	CC		KEEP	---	---	---	---	capture	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		Missense_Mutation	SNP	79241706	79241706	4738	10	C	G	G	28	28	DLG5	G	3	3
SIK3	23387	broad.mit.edu	36	11	116474147	116474147	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116474147G>T	uc001ppy.1	-	c.21C>A	c.(19-21)TAC>TAA	p.Y7*	SIK3_uc001ppz.1_5'UTR|SIK3_uc001pqa.1_Nonsense_Mutation_p.Y7*	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	KIAA0999 protein	7					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|breast(2)|lung(1)|kidney(1)|skin(1)	8										634				0.333333	8.122535	8.343674	3	6	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	116474147	116474147	14814	11	G	T	T	36	36	SIK3	T	5	3
OR8H2	390151	broad.mit.edu	36	11	55629610	55629610	+	Silent	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55629610C>T	uc001nih.1	+	c.516C>T	c.(514-516)AAC>AAT	p.N172N		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.331155	417.600381	429.167594	152	307	CC		KEEP	---	---	---	---	capture			Silent	SNP	55629610	55629610	11649	11	C	T	T	19	19	OR8H2	T	1	1
LRP5	4041	broad.mit.edu	36	11	67938051	67938051	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67938051G>C	uc001ont.1	+	c.2822G>C	c.(2821-2823)TGC>TCC	p.C941S	LRP5_uc009ysg.1_Missense_Mutation_p.C351S	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	941	EGF-like 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(1)|pancreas(1)	2														0.307692	7.810572	8.231126	4	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67938051	67938051	9333	11	G	C	C	46	46	LRP5	C	3	3
MYO1H	283446	broad.mit.edu	36	12	108328169	108328169	+	Silent	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108328169C>T	uc009zvh.1	+	c.861C>T	c.(859-861)GAC>GAT	p.D287D		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.222222	50.625229	57.633169	22	77	CC		KEEP	---	---	---	---	capture			Silent	SNP	108328169	108328169	10470	12	C	T	T	19	19	MYO1H	T	1	1
ADAMTS20	80070	broad.mit.edu	36	12	42056310	42056310	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:42056310A>T	uc001rnn.1	-	c.5216T>A	c.(5215-5217)ATA>AAA	p.I1739K		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1739	GON.					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)							p.I1739K(NCIH146-Tumor)	2149				0.375	8.523092	8.632799	3	5	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0473)	Missense_Mutation	SNP	42056310	42056310	267	12	A	T	T	16	16	ADAMTS20	T	4	4
NCKAP1L	3071	broad.mit.edu	36	12	53199339	53199339	+	Silent	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53199339C>T	uc001sgc.2	+	c.1581C>T	c.(1579-1581)TCC>TCT	p.S527S		NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	527					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4														0.388646	275.434749	277.918591	89	140	CC		KEEP	---	---	---	---	capture			Silent	SNP	53199339	53199339	10621	12	C	T	T	23	23	NCKAP1L	T	1	1
PPFIA2	8499	broad.mit.edu	36	12	80212925	80212925	+	Silent	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:80212925C>T	uc001szo.1	-	c.2745G>A	c.(2743-2745)GCG>GCA	p.A915A	PPFIA2_uc009zsh.1_Non-coding_Transcript|PPFIA2_uc009zsi.1_Non-coding_Transcript	NM_003625	NP_003616	O75334	LIPA2_HUMAN	PTPRF interacting protein alpha 2	915	SAM 1.				cell-matrix adhesion	cell surface|cytoplasm	protein binding			ovary(3)|lung(2)|pancreas(1)	6														0.282051	29.51318	31.17482	11	28	CC		KEEP	---	---	---	---	capture			Silent	SNP	80212925	80212925	12740	12	C	T	T	19	19	PPFIA2	T	1	1
ASB2	51676	broad.mit.edu	36	14	93475280	93475280	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0878-01	TCGA-06-0878-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93475280T>G	uc001ycd.1	-	c.1448A>C	c.(1447-1449)CAC>CCC	p.H483P	ASB2_uc001ycb.1_Missense_Mutation_p.H161P|ASB2_uc001ycc.1_Missense_Mutation_p.H467P|ASB2_uc001yce.1_Missense_Mutation_p.H413P	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	467					intracellular signal transduction					pancreas(1)	1		all_cancers(154;0.13)												0.75	8.038775	8.454912	6	2	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	Missense_Mutation	SNP	93475280	93475280	1041	14	T	G	G	59	59	ASB2	G	4	4
ATP8B4	79895	broad.mit.edu	36	15	48041489	48041489	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48041489C>A	uc001zxu.1	-	c.1264G>T	c.(1264-1266)GAT>TAT	p.D422Y	ATP8B4_uc010ber.1_Missense_Mutation_p.D295Y	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	422	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)												0.34	43.019906	44.170537	17	33	CC		KEEP	---	---	---	---	capture		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	Missense_Mutation	SNP	48041489	48041489	1216	15	C	A	A	30	30	ATP8B4	A	3	3
UMOD	7369	broad.mit.edu	36	16	20264950	20264950	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20264950G>A	uc002dhb.1	-	c.1280C>T	c.(1279-1281)ACG>ATG	p.T427M	UMOD_uc002dgz.1_Missense_Mutation_p.T394M|UMOD_uc002dha.1_Missense_Mutation_p.T394M	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	394	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.461538	126.847616	126.963372	42	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20264950	20264950	17537	16	G	A	A	40	40	UMOD	A	1	1
ATP2C2	9914	broad.mit.edu	36	16	83030303	83030303	+	Silent	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:83030303G>A	uc010chj.1	+	c.1017G>A	c.(1015-1017)CTG>CTA	p.L339L	ATP2C2_uc002fhx.1_Silent_p.L339L|ATP2C2_uc002fhy.1_Silent_p.L356L|ATP2C2_uc002fhz.1_Silent_p.L188L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	calcium-transporting ATPase 2C2	339	Helical; Name=5; (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2														0.336538	87.187275	89.648187	35	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	83030303	83030303	1163	16	G	A	A	46	46	ATP2C2	A	2	2
NPEPPS	9520	broad.mit.edu	36	17	42963827	42963827	+	Silent	SNP	G	C	C			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42963827G>C	uc002ilr.2	+	c.162G>C	c.(160-162)CTG>CTC	p.L54L		NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	54					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0														0.272727	6.618728	7.132061	3	8	GG		KEEP	---	---	---	---	capture			Silent	SNP	42963827	42963827	10979	17	G	C	C	46	46	NPEPPS	C	3	3
ASXL3	80816	broad.mit.edu	36	18	29577043	29577043	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29577043C>G	uc010dmg.1	+	c.3233C>G	c.(3232-3234)GCT>GGT	p.A1078G	ASXL3_uc002kxq.2_Missense_Mutation_p.A785G	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1078	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.235294	6.787705	7.881135	4	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29577043	29577043	1087	18	C	G	G	28	28	ASXL3	G	3	3
RAB4B	53916	broad.mit.edu	36	19	45984634	45984634	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45984634G>A	uc002opf.1	+	c.646G>A	c.(646-648)GGG>AGG	p.G216R	RAB4B_uc002opc.1_Non-coding_Transcript|RAB4B_uc002opd.1_Missense_Mutation_p.G190R|RAB4B_uc002ope.1_Non-coding_Transcript|EGLN2_uc010ehd.1_5'UTR	NM_016154	NP_057238	P61018	RAB4B_HUMAN	ras-related GTP-binding protein 4b	190					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			skin(1)	1														0.125	20.392445	36.835226	15	105	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Missense_Mutation	SNP	45984634	45984634	13406	19	G	A	A	39	39	RAB4B	A	1	1
CEACAM16	388551	broad.mit.edu	36	19	49898711	49898711	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49898711G>C	uc002ozq.1	+	c.467G>C	c.(466-468)GGC>GCC	p.G156A		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	97										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)												0.25	7.169205	8.101633	4	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49898711	49898711	3321	19	G	C	C	42	42	CEACAM16	C	3	3
ERCC1	2067	broad.mit.edu	36	19	50604810	50604810	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50604810A>G	uc002pbs.1	-	c.857T>C	c.(856-858)TTT>TCT	p.F286S	CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.1_Missense_Mutation_p.F262S|ERCC1_uc002pbu.1_Missense_Mutation_p.F214S	NM_001983	NP_001974	P07992	ERCC1_HUMAN	excision repair cross-complementing 1 isofrom 2	286					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding				0		Ovarian(192;0.051)|all_neural(266;0.112)												0.433333	42.072003	42.187947	13	17	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	Missense_Mutation	SNP	50604810	50604810	5405	19	A	G	G	1	1	ERCC1	G	4	4
NCR1	9437	broad.mit.edu	36	19	60112582	60112582	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60112582G>C	uc002qib.1	+	c.522G>C	c.(520-522)GAG>GAC	p.E174D	NCR1_uc002qic.1_Missense_Mutation_p.E174D|NCR1_uc002qid.1_Missense_Mutation_p.E79D|NCR1_uc002qie.1_Missense_Mutation_p.E174D|NCR1_uc010esj.1_Missense_Mutation_p.E67D|NCR1_uc002qif.1_Missense_Mutation_p.E79D	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	174	Extracellular (Potential).|Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2														0.333333	178.539099	182.967751	60	120	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0449)	Missense_Mutation	SNP	60112582	60112582	10636	19	G	C	C	36	36	NCR1	C	3	3
KAZ	23254	broad.mit.edu	36	1	15300729	15300729	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15300729G>A	uc001avm.2	+	c.1651G>A	c.(1651-1653)GAT>AAT	p.D551N	KAZ_uc001avs.2_5'UTR	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	551	SAM 2.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0														0.4375	19.62204	19.676607	7	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15300729	15300729	8292	1	G	A	A	45	45	KAZ	A	2	2
MSTO1	55154	broad.mit.edu	36	1	153848400	153848400	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153848400A>G	uc001fky.1	+	c.563A>G	c.(562-564)GAA>GGA	p.E188G	MSTO1_uc001fkw.2_Missense_Mutation_p.E188G|MSTO1_uc001fkx.2_Missense_Mutation_p.E188G|MSTO1_uc001fld.2_Missense_Mutation_p.E10G|MSTO1_uc001fkz.1_Missense_Mutation_p.E119G|MSTO1_uc009wqs.1_Missense_Mutation_p.E67G|MSTO1_uc001fla.1_Missense_Mutation_p.E7G|MSTO1_uc001flb.1_Missense_Mutation_p.E57G|MSTO1_uc001flc.2_Missense_Mutation_p.E10G	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	misato	188					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex					0	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)													0.363636	8.5064	8.682104	4	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153848400	153848400	10287	1	A	G	G	9	9	MSTO1	G	4	4
HSPG2	3339	broad.mit.edu	36	1	22079255	22079255	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22079255C>T	uc009vqd.1	-	c.2278G>A	c.(2278-2280)GGC>AGC	p.G760S	HSPG2_uc001bfj.1_Missense_Mutation_p.G759S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	759	Laminin EGF-like 1; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Becaplermin(DB00102)|Palifermin(DB00039)									0.278351	69.647529	73.895967	27	70	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Missense_Mutation	SNP	22079255	22079255	7730	1	C	T	T	22	22	HSPG2	T	2	2
ZNF692	55657	broad.mit.edu	36	1	247114853	247114853	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:247114853G>T	uc001ifc.1	-	c.1059C>A	c.(1057-1059)CAC>CAA	p.H353Q	ZNF692_uc001iez.1_Missense_Mutation_p.H75Q|ZNF692_uc001ifa.1_Missense_Mutation_p.H75Q|ZNF692_uc001ifb.1_Missense_Mutation_p.H149Q|ZNF692_uc001ifd.1_Missense_Mutation_p.H352Q|ZNF692_uc001ife.1_Non-coding_Transcript|ZNF692_uc001iff.1_Missense_Mutation_p.H308Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	353	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)												0.4	103.23096	103.974803	34	51	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		Missense_Mutation	SNP	247114853	247114853	18692	1	G	T	T	48	48	ZNF692	T	3	3
GBP5	115362	broad.mit.edu	36	1	89502183	89502183	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89502183G>A	uc001dnc.1	-	c.1186C>T	c.(1186-1188)CGG>TGG	p.R396W	GBP5_uc001dnd.1_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	396						plasma membrane	GTP binding|GTPase activity			ovary(1)	1														0.354108	340.567591	347.192259	125	228	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00784)|Epithelial(280;0.0286)	Missense_Mutation	SNP	89502183	89502183	6543	1	G	A	A	40	40	GBP5	A	1	1
KCNS1	3787	broad.mit.edu	36	20	43160216	43160216	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43160216C>G	uc002xnc.1	-	c.611G>C	c.(610-612)CGC>CCC	p.R204P	KCNS1_uc002xnd.1_Missense_Mutation_p.R204P	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	204	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)												0.375	6.947894	7.047736	3	5	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43160216	43160216	8393	20	C	G	G	27	27	KCNS1	G	3	3
TP53RK	112858	broad.mit.edu	36	20	44751437	44751437	+	Silent	SNP	C	G	G			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44751437C>G	uc002xsk.1	-	c.24G>C	c.(22-24)ACG>ACC	p.T8T	TP53RK_uc002xsj.1_Silent_p.T8T	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	p53-related protein kinase	8					lipopolysaccharide biosynthetic process|protein phosphorylation	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Myeloproliferative disorder(115;0.0122)								20				0.5	6.625571	6.625571	3	3	CC		KEEP	---	---	---	---	capture			Silent	SNP	44751437	44751437	16932	20	C	G	G	27	27	TP53RK	G	3	3
CHGB	1114	broad.mit.edu	36	20	5851131	5851131	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5851131G>A	uc002wmg.1	+	c.341G>A	c.(340-342)GGC>GAC	p.G114D		NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	114						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.333333	43.862658	45.114972	17	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5851131	5851131	3473	20	G	A	A	42	42	CHGB	A	2	2
KRTAP19-1	337882	broad.mit.edu	36	21	30774279	30774279	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:30774279G>A	uc002yoe.1	-	c.229C>T	c.(229-231)CGC>TGC	p.R77C		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament					0														0.413514	457.982942	460.377736	153	217	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30774279	30774279	8843	21	G	A	A	39	39	KRTAP19-1	A	1	1
KRTAP20-2	337976	broad.mit.edu	36	21	30929597	30929597	+	Nonsense_Mutation	SNP	T	A	A			TCGA-06-0878-01	TCGA-06-0878-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:30929597T>A	uc002yor.1	+	c.144T>A	c.(142-144)TAT>TAA	p.Y48*		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	48						intermediate filament				central_nervous_system(1)	1														0.389474	216.749733	218.767361	74	116	TT		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	30929597	30929597	8855	21	T	A	A	51	51	KRTAP20-2	A	5	4
CBR3	874	broad.mit.edu	36	21	36429417	36429417	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:36429417G>T	uc002yve.1	+	c.57G>T	c.(55-57)TTG>TTT	p.L19F		NM_001236	NP_001227	O75828	CBR3_HUMAN	carbonyl reductase 3	19	NADP.				oxidation-reduction process	cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding				0														0.3125	9.069605	9.570752	5	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36429417	36429417	2828	21	G	T	T	47	47	CBR3	T	3	3
BCL2L13	23786	broad.mit.edu	36	22	16558948	16558948	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16558948C>T	uc002zmw.1	+	c.428C>T	c.(427-429)ACC>ATC	p.T143I	BCL2L13_uc002zmu.1_Missense_Mutation_p.T143I|BCL2L13_uc002zmv.1_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.1_5'UTR|BCL2L13_uc002zmy.1_Intron|BCL2L13_uc010gqy.1_Intron|BCL2L13_uc010gqz.1_Intron|BCL2L13_uc002zmz.1_Intron	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	143					activation of caspase activity|induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)												0.54	82.541674	82.613919	27	23	CC		KEEP	---	---	---	---	capture		Lung(27;0.199)	Missense_Mutation	SNP	16558948	16558948	1392	22	C	T	T	18	18	BCL2L13	T	2	2
TMPRSS6	164656	broad.mit.edu	36	22	35812338	35812338	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35812338C>T	uc003aqt.1	-	c.904G>A	c.(904-906)GTC>ATC	p.V302I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	311	CUB 1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)	5														0.8	23.847489	24.715227	8	2	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35812338	35812338	16792	22	C	T	T	19	19	TMPRSS6	T	1	1
PRR5-ARHGAP8	553158	broad.mit.edu	36	22	43561080	43561080	+	Silent	SNP	C	G	G			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:43561080C>G	uc003bfd.1	+	c.771C>G	c.(769-771)GGC>GGG	p.G257G	PRR5-ARHGAP8_uc003bfc.1_Silent_p.G134G|PRR5-ARHGAP8_uc003bff.1_Silent_p.G39G|PRR5-ARHGAP8_uc003bfg.1_Silent_p.G39G|ARHGAP8_uc003bfi.2_Silent_p.G3G|ARHGAP8_uc010gzv.1_Silent_p.G3G|ARHGAP8_uc003bfj.1_Silent_p.G3G|ARHGAP8_uc003bfk.1_Silent_p.G3G|PRR5-ARHGAP8_uc003bfl.1_Non-coding_Transcript	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2												0														0.307692	9.397358	9.824847	4	9	CC		KEEP	---	---	---	---	capture			Silent	SNP	43561080	43561080	13050	22	C	G	G	26	26	PRR5-ARHGAP8	G	3	3
ITGB6	3694	broad.mit.edu	36	2	160734016	160734016	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160734016C>T	uc002ubh.2	-	c.970G>A	c.(970-972)GTG>ATG	p.V324M	ITGB6_uc010fou.1_Missense_Mutation_p.V324M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M|ITGB6_uc010fow.1_Non-coding_Transcript	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6	324	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3										575				0.387387	252.803558	255.268894	86	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	160734016	160734016	8203	2	C	T	T	19	19	ITGB6	T	1	1
DNAH7	56171	broad.mit.edu	36	2	196573733	196573733	+	Silent	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196573733G>A	uc002utj.2	-	c.1293C>T	c.(1291-1293)GAC>GAT	p.D431D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	431	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.355231	408.534293	416.123925	146	265	GG		KEEP	---	---	---	---	capture			Silent	SNP	196573733	196573733	4789	2	G	A	A	40	40	DNAH7	A	1	1
SLC6A1	6529	broad.mit.edu	36	3	11035302	11035302	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:11035302C>G	uc010hdq.1	+	c.389C>G	c.(388-390)GCT>GGT	p.A130G		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	130	Helical; Name=3; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1		Ovarian(110;0.0392)			Cocaine(DB00907)|Tiagabine(DB00906)									0.266667	6.984147	7.729941	4	11	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Missense_Mutation	SNP	11035302	11035302	15170	3	C	G	G	28	28	SLC6A1	G	3	3
FBLN2	2199	broad.mit.edu	36	3	13647224	13647224	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13647224G>A	uc003bya.1	+	c.2993G>A	c.(2992-2994)CGC>CAC	p.R998H	FBLN2_uc003byb.1_Missense_Mutation_p.R951H	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	990	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1														0.578947	34.427155	34.530474	11	8	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		Missense_Mutation	SNP	13647224	13647224	5935	3	G	A	A	38	38	FBLN2	A	1	1
ATP11B	23200	broad.mit.edu	36	3	184067875	184067875	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0878-01	TCGA-06-0878-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184067875T>C	uc003flb.1	+	c.1637T>C	c.(1636-1638)ATT>ACT	p.I546T	ATP11B_uc003flc.2_Missense_Mutation_p.I130T	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	546	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)													0.291845	198.311464	207.349736	68	165	TT		KEEP	---	---	---	---	capture	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		Missense_Mutation	SNP	184067875	184067875	1139	3	T	C	C	52	52	ATP11B	C	4	4
OXTR	5021	broad.mit.edu	36	3	8784387	8784387	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:8784387C>G	uc003brc.1	-	c.487G>C	c.(487-489)GGC>CGC	p.G163R		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	163	Helical; Name=4; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0					Carbetocin(DB01282)									0.26087	8.333504	9.542555	6	17	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.15)	Missense_Mutation	SNP	8784387	8784387	11751	3	C	G	G	23	23	OXTR	G	3	3
CLNK	116449	broad.mit.edu	36	4	10124303	10124303	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:10124303C>A	uc003gmo.2	-	c.789G>T	c.(787-789)ATG>ATT	p.M263I		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	263					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						GBM(87;402 1286 6949 13902 35851)								0.46875	45.322033	45.349261	15	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10124303	10124303	3685	4	C	A	A	25	25	CLNK	A	3	3
CTBP1	1487	broad.mit.edu	36	4	1196064	1196064	+	Silent	SNP	G	C	C			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1196064G>C	uc003gcv.1	-	c.1287C>G	c.(1285-1287)CCC>CCG	p.P429P	CTBP1_uc003gct.1_Silent_p.P410P|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcw.2_Silent_p.P104P	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	429					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone H4 acetylation|oxidation-reduction process|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding|transcription repressor activity			ovary(1)	1										261				0.444444	12.9008	12.924612	4	5	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	Silent	SNP	1196064	1196064	4156	4	G	C	C	39	39	CTBP1	C	3	3
DCHS2	54798	broad.mit.edu	36	4	155472197	155472197	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155472197C>T	uc003inw.1	-	c.2353G>A	c.(2353-2355)GAA>AAA	p.E785K	DCHS2_uc003inx.1_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	785	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)												0.32	42.181318	43.621244	16	34	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(193;0.107)	Missense_Mutation	SNP	155472197	155472197	4459	4	C	T	T	29	29	DCHS2	T	2	2
CTNND2	1501	broad.mit.edu	36	5	11075883	11075883	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:11075883A>C	uc003jfa.1	-	c.2997T>G	c.(2995-2997)GAT>GAG	p.D999E	CTNND2_uc010itt.1_Missense_Mutation_p.D908E|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	999	ARM 9.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.349206	135.960144	138.489015	44	82	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11075883	11075883	4179	5	A	C	C	16	16	CTNND2	C	4	4
PCDHA8	56140	broad.mit.edu	36	5	140202701	140202701	+	Silent	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140202701G>A	uc003lhs.1	+	c.1611G>A	c.(1609-1611)GCG>GCA	p.A537A	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhr.1_Silent_p.A537A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0														0.373206	208.600234	211.547715	78	131	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140202701	140202701	11950	5	G	A	A	38	38	PCDHA8	A	1	1
DOCK2	1794	broad.mit.edu	36	5	169055426	169055426	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:169055426G>T	uc003maf.1	+	c.885G>T	c.(883-885)TTG>TTT	p.L295F		NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	295					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)												0.353933	167.655123	171.010473	63	115	GG		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	169055426	169055426	4871	5	G	T	T	45	45	DOCK2	T	3	3
FOXC1	2296	broad.mit.edu	36	6	1557234	1557234	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:1557234A>T	uc003mtp.1	+	c.1555A>T	c.(1555-1557)AAC>TAC	p.N519Y		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	519					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)				Pancreas(133;719 1821 3197 26645 35015)								0.333333	9.986864	10.23787	4	8	AA		KEEP	---	---	---	---	capture		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	Missense_Mutation	SNP	1557234	1557234	6236	6	A	T	T	9	9	FOXC1	T	4	4
HCRTR2	3062	broad.mit.edu	36	6	55250265	55250265	+	Silent	SNP	A	G	G			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:55250265A>G	uc003pcl.1	+	c.891A>G	c.(889-891)CGA>CGG	p.R297R	HCRTR2_uc010jzv.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	297	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)	2	Lung NSC(77;0.107)|Renal(3;0.122)													0.328767	72.976745	74.873552	24	49	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.23)		Silent	SNP	55250265	55250265	7285	6	A	G	G	11	11	HCRTR2	G	4	4
ZAN	7455	broad.mit.edu	36	7	100188547	100188547	+	Silent	SNP	A	G	G			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100188547A>G	uc003uwj.1	+	c.2883A>G	c.(2881-2883)AAA>AAG	p.K961K	ZAN_uc003uwk.1_Silent_p.K961K|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	961	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.090909	10.328196	38.136475	15	150	AA		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Silent	SNP	100188547	100188547	18096	7	A	G	G	2	2	ZAN	G	4	4
PRKRIP1	79706	broad.mit.edu	36	7	101823871	101823871	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101823871G>A	uc003uzh.2	+	c.8G>A	c.(7-9)AGC>AAC	p.S3N	PRKRIP1_uc003uzf.2_Intron|PRKRIP1_uc003uzg.2_Intron	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	3	Interaction with EIF2AK2 (By similarity).					nucleolus				ovary(1)	1														0.230769	7.227459	8.977906	6	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101823871	101823871	12968	7	G	A	A	34	34	PRKRIP1	A	2	2
LAMB4	22798	broad.mit.edu	36	7	107494182	107494182	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107494182C>T	uc010ljo.1	-	c.2546G>A	c.(2545-2547)CGC>CAC	p.R849H	LAMB4_uc003vey.2_Missense_Mutation_p.R849H|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	849	Laminin EGF-like 7.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.258427	56.898569	61.594936	23	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107494182	107494182	8936	7	C	T	T	27	27	LAMB4	T	1	1
SEMA3E	9723	broad.mit.edu	36	7	82835157	82835157	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82835157A>C	uc003uhy.1	-	c.2009T>G	c.(2008-2010)TTG>TGG	p.L670W		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E	670					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)												0.250909	192.243766	207.748389	69	206	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82835157	82835157	14514	7	A	C	C	5	5	SEMA3E	C	4	4
NAT2	10	broad.mit.edu	36	8	18302631	18302631	+	Missense_Mutation	SNP	G	A	A	rs56393504	by-1000genomes	TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:18302631G>A	uc003wyw.1	+	c.838G>A	c.(838-840)GTG>ATG	p.V280M	NAT2_uc010lte.1_Missense_Mutation_p.V280M	NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	280					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2														0.349462	181.923432	185.640568	65	121	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Missense_Mutation	SNP	18302631	18302631	10573	8	G	A	A	40	40	NAT2	A	1	1
PREX2	80243	broad.mit.edu	36	8	69267131	69267131	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:69267131G>A	uc003xxv.1	+	c.4421G>A	c.(4420-4422)AGG>AAG	p.R1474K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1474					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13										1011				0.380952	72.487031	73.269418	24	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69267131	69267131	12920	8	G	A	A	35	35	PREX2	A	2	2
LPAR1	1902	broad.mit.edu	36	9	112744141	112744141	+	Silent	SNP	A	C	C			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:112744141A>C	uc004bfa.1	-	c.174T>G	c.(172-174)ACT>ACG	p.T58T	LPAR1_uc004bfb.1_Silent_p.T58T|LPAR1_uc004bfc.1_Silent_p.T58T|LPAR1_uc010mub.1_Silent_p.T58T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	58	Helical; Name=1; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						NSCLC(115;661 2323 9836 34256)								0.377622	159.312259	161.192629	54	89	AA		KEEP	---	---	---	---	capture			Silent	SNP	112744141	112744141	9277	9	A	C	C	7	7	LPAR1	C	4	4
TRAF1	7185	broad.mit.edu	36	9	122715556	122715556	+	Silent	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122715556C>T	uc004bku.1	-	c.576G>A	c.(574-576)GGG>GGA	p.G192G	TRAF1_uc010mvl.1_Silent_p.G192G	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3														0.349315	130.177616	133.103659	51	95	CC		KEEP	---	---	---	---	capture			Silent	SNP	122715556	122715556	16981	9	C	T	T	30	30	TRAF1	T	2	2
GOLGA1	2800	broad.mit.edu	36	9	126710560	126710560	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126710560C>T	uc004bpc.1	-	c.982G>A	c.(982-984)GAG>AAG	p.E328K	GOLGA1_uc010mws.1_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	328	Potential.					Golgi cisterna membrane				ovary(1)	1														0.35503	159.339069	162.474443	60	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126710560	126710560	6820	9	C	T	T	29	29	GOLGA1	T	2	2
KLHL13	90293	broad.mit.edu	36	X	116938267	116938267	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0878-01	TCGA-06-0878-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:116938267A>T	uc004eql.1	-	c.335T>A	c.(334-336)ATG>AAG	p.M112K	KLHL13_uc004eqk.1_Missense_Mutation_p.M61K|KLHL13_uc004eqm.1_Missense_Mutation_p.M61K	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	112	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)	1														0.2875	128.879165	135.363084	46	114	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116938267	116938267	8681	23	A	T	T	8	8	KLHL13	T	4	4
SCML2	10389	broad.mit.edu	36	X	18184985	18184985	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18184985G>A	uc004cyl.2	-	c.1360C>T	c.(1360-1362)CAC>TAC	p.H454Y	SCML2_uc004cyk.2_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc010nfc.1_Missense_Mutation_p.H190Y	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	454					anatomical structure morphogenesis|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					Esophageal Squamous(100;1252 1965 19021 35517)								0.142857	38.045197	57.81167	23	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18184985	18184985	14392	23	G	A	A	47	47	SCML2	A	2	2
NOD2	64127	broad.mit.edu	36	16	49288708	49288710	+	In_Frame_Del	DEL	TCC	-	-			TCGA-06-0878-01	TCGA-06-0878-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:49288708_49288710delTCC	uc002egm.1	+	c.53_55delTCC	c.(52-57)GTCCTC>GTC	p.L20del	NOD2_uc010cbj.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	20					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.46			6	7				---	---	---	---	capture_indel			In_Frame_Del	DEL	49288708	49288710	10920	16	TCC	-	-	58	58	NOD2	-	5	5
