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
KLF6	1316	broad.mit.edu	36	10	3817144	3817144	+	Nonsense_Mutation	SNP	G	T	T			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:3817144G>T	uc001iha.1	-	c.63C>A	c.(61-63)TAC>TAA	p.Y21*	KLF6_uc001ihb.1_Nonsense_Mutation_p.Y21*	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6	21					B cell differentiation	nucleus	transcription activator activity|zinc ion binding			central_nervous_system(3)|lung(1)	4										257				0.272727	6.517492	7.031859	3	8	GG		KEEP	---	---	---	---	capture		Colorectal(1;0.238)	Nonsense_Mutation	SNP	3817144	3817144	8662	10	G	T	T	36	36	KLF6	T	5	3
MUC2	4583	broad.mit.edu	36	11	1084855	1084855	+	Silent	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1084855C>T	uc001lsx.1	+	c.13029C>T	c.(13027-13029)TAC>TAT	p.Y4343Y		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4343						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)			Pranlukast(DB01411)									0.363095	170.535917	173.303391	61	107	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Silent	SNP	1084855	1084855	10369	11	C	T	T	19	19	MUC2	T	1	1
SLC22A10	387775	broad.mit.edu	36	11	62828171	62828171	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62828171G>A	uc009yor.1	+	c.1301G>A	c.(1300-1302)CGT>CAT	p.R434H	SLC22A10_uc001nwu.2_Non-coding_Transcript	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	434	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	transporter activity			ovary(2)	2														0.312329	319.382015	330.79163	114	251	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62828171	62828171	14937	11	G	A	A	40	40	SLC22A10	A	1	1
BBS1	582	broad.mit.edu	36	11	66045424	66045424	+	Splice_Site_SNP	SNP	G	T	T			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66045424G>T	uc001oii.1	+	c.941_splice	c.e9+1	p.R314_splice	ZDHHC24_uc001oim.1_Non-coding_Transcript|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc001oij.1_Splice_Site_SNP_p.R277_splice|BBS1_uc001oik.1_Splice_Site_SNP_p.R201_splice|BBS1_uc001oil.1_Intron	NM_024649	NP_078925			Bardet-Biedl syndrome 1						photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						GBM(152;173 2612 9770 10137)								0.194444	7.101061	10.293709	7	29	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	66045424	66045424	1356	11	G	T	T	44	44	BBS1	T	5	3
CABP4	57010	broad.mit.edu	36	11	66980446	66980446	+	Silent	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66980446C>T	uc001olo.1	+	c.498C>T	c.(496-498)ACC>ACT	p.T166T	CABP4_uc001oln.1_Silent_p.T61T	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	166	EF-hand 2.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0														0.353846	68.409576	69.631991	23	42	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		Silent	SNP	66980446	66980446	2649	11	C	T	T	23	23	CABP4	T	1	1
CACNB3	784	broad.mit.edu	36	12	47504736	47504736	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47504736C>T	uc001rsl.1	+	c.425C>T	c.(424-426)TCC>TTC	p.S142F	CACNB3_uc001rsk.1_5'UTR	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	142					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)									0.266667	73.056241	78.217816	28	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47504736	47504736	2670	12	C	T	T	30	30	CACNB3	T	2	2
C12orf61	283416	broad.mit.edu	36	12	61283120	61283120	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:61283120G>C	uc001sri.1	-	c.266C>G	c.(265-267)GCC>GGC	p.A89G	MIRLET7I_hsa-let-7i|MI0000434_5'Flank	NM_175895	NP_787091	Q8N7H1	CL061_HUMAN	hypothetical protein LOC283416	89											0														0.235294	6.407652	7.496568	4	13	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)	Missense_Mutation	SNP	61283120	61283120	1748	12	G	C	C	42	42	C12orf61	C	3	3
DNAH9	1770	broad.mit.edu	36	17	11613195	11613195	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11613195G>A	uc002gne.1	+	c.7376G>A	c.(7375-7377)CGT>CAT	p.R2459H	DNAH9_uc010coo.1_Missense_Mutation_p.R1753H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2459	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.25	99.040982	108.119573	40	120	GG		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Missense_Mutation	SNP	11613195	11613195	4791	17	G	A	A	40	40	DNAH9	A	1	1
SMCR7	125170	broad.mit.edu	36	17	18108285	18108285	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1836-01	TCGA-27-1836-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18108285A>G	uc002gst.1	+	c.847A>G	c.(847-849)ATG>GTG	p.M283V	SMCR7_uc002gsu.1_3'UTR|SMCR7_uc002gsv.1_Missense_Mutation_p.M283V	NM_139162	NP_683684	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	283						integral to membrane	protein binding				0	all_neural(463;0.228)													0.25	24.502256	27.003778	11	33	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18108285	18108285	15288	17	A	G	G	8	8	SMCR7	G	4	4
MFAP4	4239	broad.mit.edu	36	17	19228504	19228504	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19228504C>G	uc002gvs.1	-	c.704G>C	c.(703-705)AGC>ACC	p.S235T	MFAP4_uc002gvr.1_Non-coding_Transcript|MFAP4_uc002gvt.1_Missense_Mutation_p.S211T	NM_002404	NP_002395	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	211	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding				0	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)													0.16129	6.853849	10.241072	5	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19228504	19228504	9907	17	C	G	G	28	28	MFAP4	G	3	3
KIF2B	84643	broad.mit.edu	36	17	49255491	49255491	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:49255491C>T	uc002iua.2	+	c.98C>T	c.(97-99)GCG>GTG	p.A33V		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	33					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.264706	64.584976	69.624064	27	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49255491	49255491	8609	17	C	T	T	27	27	KIF2B	T	1	1
TP53	7157	broad.mit.edu	36	17	7518942	7518942	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518942G>A	uc002gim.2	-	c.632C>T	c.(631-633)ACT>ATT	p.T211I	TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.1_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	211	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.T211I(7)|p.0?(6)|p.T211N(4)|p.T211fs*4(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.D207_V216del10(1)|p.T211S(1)|p.R209fs*6(1)|p.T211fs*5(1)|p.D208_V216delDRNTFRHSV(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.T211I(42MGBA-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.240964	52.559662	57.639886	20	63	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7518942	7518942	16923	17	G	A	A	36	36	TP53	A	2	2
PCSK4	54760	broad.mit.edu	36	19	1434418	1434418	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1434418C>A	uc002ltb.1	-	c.1436G>T	c.(1435-1437)TGC>TTC	p.C479F	PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Missense_Mutation_p.C291F	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	479					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)												0.173913	6.796506	9.097228	4	19	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	1434418	1434418	12023	19	C	A	A	25	25	PCSK4	A	3	3
ZNF208	7757	broad.mit.edu	36	19	21948564	21948564	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21948564C>T	uc002nqp.1	-	c.1112G>A	c.(1111-1113)TGT>TAT	p.C371Y	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.296296	104.842912	109.855681	40	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21948564	21948564	18357	19	C	T	T	17	17	ZNF208	T	2	2
KLK6	5653	broad.mit.edu	36	19	56158475	56158475	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56158475G>A	uc002puh.1	-	c.367C>T	c.(367-369)CGC>TGC	p.R123C	KLK6_uc010eoj.1_Intron|KLK6_uc002puj.1_Missense_Mutation_p.R7C|KLK6_uc002puk.1_Silent_p.H16H|KLK6_uc002pul.1_Missense_Mutation_p.R114C|KLK6_uc002pum.1_Missense_Mutation_p.R7C|KLK6_uc002pui.1_Missense_Mutation_p.R114C	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform B	114	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)												0.292308	48.334179	50.82523	19	46	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	Missense_Mutation	SNP	56158475	56158475	8722	19	G	A	A	40	40	KLK6	A	1	1
NLRP11	204801	broad.mit.edu	36	19	61012169	61012169	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61012169G>A	uc002qma.1	-	c.1619C>T	c.(1618-1620)ACG>ATG	p.T540M	NLRP11_uc002qlz.1_Missense_Mutation_p.T441M|NLRP11_uc002qmb.1_Missense_Mutation_p.T441M|NLRP11_uc002qmc.1_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)												0.288889	208.767607	219.538975	78	192	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	61012169	61012169	10876	19	G	A	A	40	40	NLRP11	A	1	1
HIPK1	204851	broad.mit.edu	36	1	114302364	114302364	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114302364G>A	uc001eem.1	+	c.1909G>A	c.(1909-1911)GGA>AGA	p.G637R	HIPK1_uc001eel.1_Missense_Mutation_p.G637R|HIPK1_uc001een.1_Missense_Mutation_p.G637R|HIPK1_uc001eeo.1_Missense_Mutation_p.G263R|HIPK1_uc001eep.1_Missense_Mutation_p.G243R	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	637					protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)								365				0.355769	110.444533	112.351227	37	67	GG		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114302364	114302364	7401	1	G	A	A	47	47	HIPK1	A	2	2
ARHGEF2	9181	broad.mit.edu	36	1	154194296	154194296	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1836-01	TCGA-27-1836-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154194296T>C	uc001fmu.1	-	c.1679A>G	c.(1678-1680)GAC>GGC	p.D560G	ARHGEF2_uc001fmr.1_Missense_Mutation_p.D488G|ARHGEF2_uc001fms.1_Missense_Mutation_p.D515G|ARHGEF2_uc001fmt.1_Missense_Mutation_p.D516G	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	rho/rac guanine nucleotide exchange factor 2	516	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					Melanoma(178;35 2768 6610 28839)								0.285714	6.916439	7.879698	6	15	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154194296	154194296	917	1	T	C	C	58	58	ARHGEF2	C	4	4
RYR2	6262	broad.mit.edu	36	1	235844002	235844002	+	Silent	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235844002C>T	uc001hyl.1	+	c.4951C>T	c.(4951-4953)CTG>TTG	p.L1651L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1651	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.318841	58.921294	60.936228	22	47	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Silent	SNP	235844002	235844002	14249	1	C	T	T	28	28	RYR2	T	2	2
OR2T34	127068	broad.mit.edu	36	1	246803973	246803973	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246803973C>T	uc001iep.1	-	c.709G>A	c.(709-711)GCC>ACC	p.A237T		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)													0.333333	193.935355	199.538992	76	152	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		Missense_Mutation	SNP	246803973	246803973	11431	1	C	T	T	27	27	OR2T34	T	1	1
PTCH2	8643	broad.mit.edu	36	1	45061575	45061575	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45061575C>T	uc001cms.1	-	c.3184G>A	c.(3184-3186)GTG>ATG	p.V1062M		NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	1062	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(4)|breast(3)|central_nervous_system(3)|ovary(1)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)									193				0.371429	72.871692	73.871349	26	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45061575	45061575	13185	1	C	T	T	19	19	PTCH2	T	1	1
NRD1	4898	broad.mit.edu	36	1	52032767	52032767	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52032767C>T	uc001ctc.2	-	c.2944G>A	c.(2944-2946)GGT>AGT	p.G982S	NRD1_uc009vzb.1_Missense_Mutation_p.G677S|NRD1_uc001ctd.2_Missense_Mutation_p.G914S|NRD1_uc001cte.2_Missense_Mutation_p.G850S|NRD1_uc001ctf.2_Missense_Mutation_p.G914S	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	913					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0														0.333984	508.974408	521.460291	171	341	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52032767	52032767	11050	1	C	T	T	22	22	NRD1	T	2	2
DIDO1	11083	broad.mit.edu	36	20	60982765	60982765	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60982765G>A	uc002ydr.1	-	c.4988C>T	c.(4987-4989)CCG>CTG	p.P1663L	DIDO1_uc002yds.1_Missense_Mutation_p.P1663L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1663					apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.341463	39.832835	40.74565	14	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60982765	60982765	4701	20	G	A	A	39	39	DIDO1	A	1	1
PLA2G3	50487	broad.mit.edu	36	22	29864350	29864350	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29864350C>T	uc003aka.1	-	c.694G>A	c.(694-696)GTG>ATG	p.V232M		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	232	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0														0.42	60.86597	61.145068	21	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29864350	29864350	12426	22	C	T	T	19	19	PLA2G3	T	1	1
TTLL12	23170	broad.mit.edu	36	22	41905816	41905816	+	Nonsense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41905816C>T	uc003bdq.1	-	c.681G>A	c.(679-681)TGG>TGA	p.W227*	TTLL12_uc003bdr.1_Nonsense_Mutation_p.W227*	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	227					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)												0.275362	42.465058	45.627494	19	50	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	41905816	41905816	17280	22	C	T	T	26	26	TTLL12	T	5	2
CELSR1	9620	broad.mit.edu	36	22	45310538	45310538	+	Silent	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45310538G>A	uc003bhw.1	-	c.1194C>T	c.(1192-1194)GAC>GAT	p.D398D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	398	Extracellular (Potential).|Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.4	22.495487	22.670423	8	12	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Silent	SNP	45310538	45310538	3354	22	G	A	A	40	40	CELSR1	A	1	1
IL1F6	27179	broad.mit.edu	36	2	113480729	113480729	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113480729C>T	uc002tip.1	+	c.208C>T	c.(208-210)CTC>TTC	p.L70F		NM_014440	NP_055255	Q9UHA7	IL1F6_HUMAN	interleukin 1 family, member 6 (epsilon)	70					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(2)	2														0.323204	345.655982	355.697228	117	245	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113480729	113480729	7955	2	C	T	T	20	20	IL1F6	T	2	2
ACADL	33	broad.mit.edu	36	2	210778751	210778751	+	Silent	SNP	A	G	G			TCGA-27-1836-01	TCGA-27-1836-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:210778751A>G	uc002vdz.2	-	c.618T>C	c.(616-618)AAT>AAC	p.N206N		NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	206					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)												0.346535	201.485038	205.686848	70	132	AA		KEEP	---	---	---	---	capture		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	Silent	SNP	210778751	210778751	113	2	A	G	G	8	8	ACADL	G	4	4
CRYBA2	1412	broad.mit.edu	36	2	219565119	219565119	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219565119G>C	uc002vjj.1	-	c.252C>G	c.(250-252)AGC>AGG	p.S84R	CRYBA2_uc002vjk.1_Missense_Mutation_p.S84R	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	84	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens				0		Renal(207;0.0474)												0.428571	7.12212	7.153535	3	4	GG		KEEP	---	---	---	---	capture		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219565119	219565119	4047	2	G	C	C	46	46	CRYBA2	C	3	3
OTX1	5013	broad.mit.edu	36	2	63134710	63134710	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1836-01	TCGA-27-1836-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63134710A>G	uc002scd.1	+	c.122A>G	c.(121-123)GAG>GGG	p.E41G		NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	41	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)													0.294118	7.233682	7.903801	5	12	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63134710	63134710	11733	2	A	G	G	11	11	OTX1	G	4	4
DNAJB8	165721	broad.mit.edu	36	3	129664594	129664594	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:129664594C>T	uc003ekk.1	-	c.185G>A	c.(184-186)CGC>CAC	p.R62H	DNAJB8_uc010hst.1_Missense_Mutation_p.R62H	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	62	J.				protein folding		heat shock protein binding|unfolded protein binding				0														0.285068	158.132244	167.298585	63	158	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.177)	Missense_Mutation	SNP	129664594	129664594	4809	3	C	T	T	27	27	DNAJB8	T	1	1
GRIP2	80852	broad.mit.edu	36	3	14512988	14512988	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14512988G>C	uc003byt.1	-	c.3058C>G	c.(3058-3060)CGA>GGA	p.R1020G	GRIP2_uc003bys.1_Missense_Mutation_p.R551G|GRIP2_uc010heh.1_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	922					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1														0.266667	7.344914	8.125217	4	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14512988	14512988	7067	3	G	C	C	40	40	GRIP2	C	3	3
ARL14	80117	broad.mit.edu	36	3	161878389	161878389	+	Silent	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:161878389G>A	uc003fdq.1	+	c.561G>A	c.(559-561)GCG>GCA	p.A187A		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	187					small GTPase mediated signal transduction	intracellular	GTP binding				0														0.297619	64.640769	67.717736	25	59	GG		KEEP	---	---	---	---	capture	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		Silent	SNP	161878389	161878389	945	3	G	A	A	40	40	ARL14	A	1	1
KNG1	3827	broad.mit.edu	36	3	187942150	187942150	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187942150G>A	uc010hyt.1	+	c.1271G>A	c.(1270-1272)GGG>GAG	p.G424E	KNG1_uc003fqr.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	424	|His-rich.				blood coagulation, intrinsic pathway|diuresis|elevation of cytosolic calcium ion concentration|inflammatory response|natriuresis|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding				0	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)				Ouabain(DB01092)									0.295918	83.639568	87.288548	29	69	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Missense_Mutation	SNP	187942150	187942150	8741	3	G	A	A	43	43	KNG1	A	2	2
NKTR	4820	broad.mit.edu	36	3	42651821	42651821	+	Silent	SNP	A	G	G			TCGA-27-1836-01	TCGA-27-1836-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42651821A>G	uc003clo.1	+	c.1122A>G	c.(1120-1122)GCA>GCG	p.A374A	NKTR_uc003clm.1_Silent_p.A121A|NKTR_uc003clp.1_Silent_p.A121A|NKTR_uc003clq.1_Silent_p.A264A|NKTR_uc003clr.1_Silent_p.A121A|NKTR_uc003cls.1_Silent_p.A74A	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	374					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)	2														0.396825	158.441824	159.609329	50	76	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.24)	Silent	SNP	42651821	42651821	10849	3	A	G	G	8	8	NKTR	G	4	4
ROBO1	6091	broad.mit.edu	36	3	78817650	78817650	+	Silent	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:78817650G>A	uc003dqe.1	-	c.1278C>T	c.(1276-1278)TAC>TAT	p.Y426Y	ROBO1_uc010hoh.1_5'UTR|ROBO1_uc003dqb.1_Silent_p.Y387Y|ROBO1_uc003dqc.1_Silent_p.Y390Y|ROBO1_uc003dqd.1_Silent_p.Y390Y|ROBO1_uc003dqf.1_Silent_p.Y105Y	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	426	Extracellular (Potential).|Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)								693				0.3	47.124479	49.270079	18	42	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	Silent	SNP	78817650	78817650	13992	3	G	A	A	48	48	ROBO1	A	2	2
TLR2	7097	broad.mit.edu	36	4	154845412	154845412	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154845412C>T	uc003inq.1	+	c.1903C>T	c.(1903-1905)CCC>TCC	p.P635S	TLR2_uc003inr.1_Missense_Mutation_p.P635S|TLR2_uc003ins.1_Missense_Mutation_p.P635S|TLR2_uc010ipt.1_Missense_Mutation_p.P635S	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2	635	Cytoplasmic (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding				0	all_hematologic(180;0.093)	Renal(120;0.117)												0.284091	66.146765	69.825131	25	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154845412	154845412	16481	4	C	T	T	30	30	TLR2	T	2	2
UGT2B10	7365	broad.mit.edu	36	4	69716555	69716555	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:69716555C>A	uc003hee.1	+	c.229C>A	c.(229-231)CCT>ACT	p.P77T		NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family,	77					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(2)	2						Melanoma(133;755 1763 25578 26334 46021)								0.376238	213.357052	216.069937	76	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69716555	69716555	17514	4	C	A	A	30	30	UGT2B10	A	3	3
EFNA5	1946	broad.mit.edu	36	5	106790957	106790957	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:106790957G>C	uc003kol.1	-	c.278C>G	c.(277-279)ACT>AGT	p.T93S	EFNA5_uc010jbr.1_Missense_Mutation_p.T93S	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5	93					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)												0.38806	240.214501	242.417271	78	123	GG		KEEP	---	---	---	---	capture		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	Missense_Mutation	SNP	106790957	106790957	5142	5	G	C	C	36	36	EFNA5	C	3	3
KIF4B	285643	broad.mit.edu	36	5	154376667	154376667	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154376667G>A	uc010jih.1	+	c.3055G>A	c.(3055-3057)GAA>AAA	p.E1019K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1019	Interaction with PRC1 (By similarity).|Globular (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)												0.310484	211.794613	219.722738	77	171	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Missense_Mutation	SNP	154376667	154376667	8615	5	G	A	A	45	45	KIF4B	A	2	2
SLIT3	6586	broad.mit.edu	36	5	168109138	168109138	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:168109138C>T	uc010jjg.1	-	c.2054G>A	c.(2053-2055)AGT>AAT	p.S685N	SLIT3_uc003mab.1_Missense_Mutation_p.S685N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3	685	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)				Ovarian(29;311 847 10864 17279 24903)								0.315436	127.472886	131.987056	47	102	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	168109138	168109138	15239	5	C	T	T	20	20	SLIT3	T	2	2
RNF44	22838	broad.mit.edu	36	5	175889222	175889222	+	Silent	SNP	T	C	C			TCGA-27-1836-01	TCGA-27-1836-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175889222T>C	uc003mek.1	-	c.1044A>G	c.(1042-1044)GGA>GGG	p.G348G	RNF44_uc003mel.1_Silent_p.G37G	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44	348							zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)												0.205128	6.762994	10.128147	8	31	TT		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	175889222	175889222	13975	5	T	C	C	54	54	RNF44	C	4	4
CDH9	1007	broad.mit.edu	36	5	26938346	26938346	+	Missense_Mutation	SNP	T	A	A			TCGA-27-1836-01	TCGA-27-1836-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:26938346T>A	uc003jgs.1	-	c.1249A>T	c.(1249-1251)ATA>TTA	p.I417L		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	417	Extracellular (Potential).|Cadherin 4.				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)								0.298387	108.529043	113.03266	37	87	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26938346	26938346	3246	5	T	A	A	52	52	CDH9	A	4	4
SPEF2	79925	broad.mit.edu	36	5	35677492	35677492	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:35677492C>T	uc003jjo.1	+	c.364C>T	c.(364-366)CGT>TGT	p.R122C	SPEF2_uc003jjn.1_Missense_Mutation_p.R122C|SPEF2_uc003jjq.2_Missense_Mutation_p.R122C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	122					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)													0.3125	112.759257	116.762016	40	88	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	35677492	35677492	15547	5	C	T	T	19	19	SPEF2	T	1	1
GPR31	2853	broad.mit.edu	36	6	167491192	167491192	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167491192G>C	uc003qvo.1	-	c.118C>G	c.(118-120)CTG>GTG	p.L40V		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	40	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)												0.238095	23.9291	26.560782	10	32	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	Missense_Mutation	SNP	167491192	167491192	6962	6	G	C	C	35	35	GPR31	C	3	3
COL11A2	1302	broad.mit.edu	36	6	33251334	33251334	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33251334C>T	uc003ocx.1	-	c.2371G>A	c.(2371-2373)GAG>AAG	p.E791K	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.E705K|COL11A2_uc003ocz.1_Missense_Mutation_p.E684K	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	791	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.279279	81.875669	86.740154	31	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33251334	33251334	3806	6	C	T	T	31	31	COL11A2	T	1	1
CADPS2	93664	broad.mit.edu	36	7	122090811	122090811	+	Missense_Mutation	SNP	A	C	C			TCGA-27-1836-01	TCGA-27-1836-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:122090811A>C	uc010lkp.1	-	c.502T>G	c.(502-504)TGT>GGT	p.C168G	CADPS2_uc010lkq.1_Missense_Mutation_p.C168G	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	168					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.5	9.371056	9.371056	9	9	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122090811	122090811	2687	7	A	C	C	6	6	CADPS2	C	4	4
ZNF706	51123	broad.mit.edu	36	8	102283137	102283137	+	Silent	SNP	A	G	G			TCGA-27-1836-01	TCGA-27-1836-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:102283137A>G	uc003yka.1	-	c.9T>C	c.(7-9)CGT>CGC	p.R3R	ZNF706_uc003ykb.1_Silent_p.R3R	NM_001042510	NP_057180	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	3						intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)													0.181818	16.409417	21.817391	10	45	AA		KEEP	---	---	---	---	capture	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		Silent	SNP	102283137	102283137	18706	8	A	G	G	6	6	ZNF706	G	4	4
SLC39A4	55630	broad.mit.edu	36	8	145612225	145612225	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145612225G>A	uc003zcq.1	-	c.251C>T	c.(250-252)CCG>CTG	p.P84L	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.1_5'Flank|SLC39A4_uc003zco.1_5'Flank|SLC39A4_uc003zcp.1_Missense_Mutation_p.P59L	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	84	Extracellular (Potential).		P -> L (in AEZ; could be a polymorphism).			cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.4	12.060537	12.12812	4	6	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		Missense_Mutation	SNP	145612225	145612225	15117	8	G	A	A	39	39	SLC39A4	A	1	1
FOXH1	8928	broad.mit.edu	36	8	145671215	145671215	+	Silent	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145671215C>T	uc003zdc.1	-	c.312G>A	c.(310-312)AAG>AAA	p.K104K	FOXH1_uc010mga.1_5'Flank	NM_003923	NP_003914	O75593	FOXH1_HUMAN	forkhead box H1	104	Fork-head.				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.272727	8.319974	8.832179	3	8	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		Silent	SNP	145671215	145671215	6253	8	C	T	T	24	24	FOXH1	T	2	2
FAM102A	399665	broad.mit.edu	36	9	129750255	129750255	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129750255C>T	uc004bsx.1	-	c.532G>A	c.(532-534)GGT>AGT	p.G178S	FAM102A_uc004bsw.1_Missense_Mutation_p.G36S|FAM102A_uc004bsy.1_5'UTR	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	178	Ser-rich.									ovary(1)	1														0.301205	64.647638	67.574722	25	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129750255	129750255	5579	9	C	T	T	21	21	FAM102A	T	2	2
LAMC3	10319	broad.mit.edu	36	9	132936827	132936827	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:132936827C>T	uc004caa.1	+	c.3205C>T	c.(3205-3207)CTT>TTT	p.L1069F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1069	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)												0.380952	98.179515	99.22384	32	52	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	Missense_Mutation	SNP	132936827	132936827	8939	9	C	T	T	28	28	LAMC3	T	2	2
KIAA1539	80256	broad.mit.edu	36	9	35098147	35098147	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35098147G>A	uc003zwl.1	-	c.125C>T	c.(124-126)GCG>GTG	p.A42V	KIAA1539_uc003zwm.1_Missense_Mutation_p.A42V|KIAA1539_uc003zwn.1_5'UTR|KIAA1539_uc003zwo.1_Missense_Mutation_p.A42V|KIAA1539_uc003zwp.1_Missense_Mutation_p.A42V|KIAA1539_uc010mkk.1_Non-coding_Transcript	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	42						nucleus				ovary(1)	1	all_epithelial(49;0.217)													0.388889	34.935689	35.32663	14	22	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Missense_Mutation	SNP	35098147	35098147	8551	9	G	A	A	38	38	KIAA1539	A	1	1
NKAP	79576	broad.mit.edu	36	X	118961288	118961288	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118961288G>C	uc004esh.1	-	c.309C>G	c.(307-309)AGC>AGG	p.S103R		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	103	Ser-rich.				Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding|transcription repressor activity			ovary(2)	2														0.214286	8.802399	10.956078	6	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118961288	118961288	10840	23	G	C	C	34	34	NKAP	C	3	3
F8	2157	broad.mit.edu	36	X	153813110	153813110	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153813110G>A	uc004fmt.1	-	c.2149C>T	c.(2149-2151)CGG>TGG	p.R717W		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	717	F5/8 type A 2.|Plastocyanin-like 4.		R -> L (in HEMA; mild).|R -> W (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.311765	148.612736	153.976159	53	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153813110	153813110	5544	23	G	A	A	37	37	F8	A	1	1
PPEF1	5475	broad.mit.edu	36	X	18707077	18707077	+	Missense_Mutation	SNP	A	T	T			TCGA-27-1836-01	TCGA-27-1836-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18707077A>T	uc004cyq.1	+	c.587A>T	c.(586-588)TAT>TTT	p.Y196F	PPEF1_uc004cyp.1_Missense_Mutation_p.Y196F|PPEF1_uc004cyr.1_Missense_Mutation_p.Y196F|PPEF1_uc004cys.1_Missense_Mutation_p.Y196F	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	196	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)													0.276289	367.855961	389.697701	134	351	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18707077	18707077	12737	23	A	T	T	16	16	PPEF1	T	4	4
