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
LDB3	11155	broad.mit.edu	36	10	88475924	88475924	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:88475924G>A	uc001kdv.1	+	c.2029G>A	c.(2029-2031)GAG>AAG	p.E677K	LDB3_uc009xsz.1_Missense_Mutation_p.E306K|LDB3_uc001kdu.1_Missense_Mutation_p.E567K|LDB3_uc009xta.1_Missense_Mutation_p.E56K	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	677	LIM zinc-binding 3.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1														0.201835	47.302338	56.298004	22	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88475924	88475924	9021	10	G	A	A	41	41	LDB3	A	2	2
PTEN	5728	broad.mit.edu	36	10	89675289	89675289	+	Nonsense_Mutation	SNP	C	G	G			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89675289C>G	uc001kfb.1	+	c.204C>G	c.(202-204)TAC>TAG	p.Y68*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	68	Phosphatase tensin-type.		Y -> H (in CD and BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y27_N212>Y(2)|p.Y68*(1)|p.R55_L70>S(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)				31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.3	10.321221	10.67849	3	7	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	89675289	89675289	13192	10	C	G	G	17	17	PTEN	G	5	3
OR5D13	390142	broad.mit.edu	36	11	55297862	55297862	+	Missense_Mutation	SNP	T	A	A			TCGA-12-1598-01	TCGA-12-1598-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55297862T>A	uc001nhu.1	+	c.373T>A	c.(373-375)TTT>ATT	p.F125I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.160584	84.740353	114.776435	44	230	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55297862	55297862	11564	11	T	A	A	64	64	OR5D13	A	4	4
OR2D3	120775	broad.mit.edu	36	11	6899766	6899766	+	Missense_Mutation	SNP	C	G	G			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6899766C>G	uc001mex.1	+	c.958C>G	c.(958-960)CTA>GTA	p.L320V		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	320	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.347619	230.414373	234.717206	73	137	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6899766	6899766	11401	11	C	G	G	20	20	OR2D3	G	3	3
ARNTL2	56938	broad.mit.edu	36	12	27434322	27434322	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27434322C>T	uc001rht.1	+	c.802C>T	c.(802-804)CAC>TAC	p.H268Y	ARNTL2_uc001rhu.1_Missense_Mutation_p.H254Y|ARNTL2_uc009zji.1_Missense_Mutation_p.H234Y|ARNTL2_uc001rhv.1_Missense_Mutation_p.H220Y|ARNTL2_uc001rhw.1_Missense_Mutation_p.H231Y	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	268					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			ovary(1)	1	Colorectal(261;0.0847)|Lung SC(9;0.184)													0.467368	748.512452	748.952814	222	253	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27434322	27434322	986	12	C	T	T	21	21	ARNTL2	T	2	2
FGF23	8074	broad.mit.edu	36	12	4349967	4349967	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4349967G>A	uc001qmq.1	-	c.559C>T	c.(559-561)CGG>TGG	p.R187W		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	187					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|skin(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)											0.842105	52.003197	54.121146	16	3	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4349967	4349967	6089	12	G	A	A	38	38	FGF23	A	1	1
ZNF641	121274	broad.mit.edu	36	12	47023680	47023680	+	Silent	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47023680C>T	uc001rrn.1	-	c.660G>A	c.(658-660)CCG>CCA	p.P220P	ZNF641_uc001rro.1_Silent_p.P206P	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	220	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.442105	131.545829	131.821195	42	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	47023680	47023680	18652	12	C	T	T	23	23	ZNF641	T	1	1
SIPA1L1	26037	broad.mit.edu	36	14	71235466	71235466	+	Silent	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:71235466G>A	uc001xms.1	+	c.3390G>A	c.(3388-3390)TCG>TCA	p.S1130S	SIPA1L1_uc001xmt.1_Silent_p.S1130S|SIPA1L1_uc001xmu.1_Silent_p.S1130S|SIPA1L1_uc001xmv.1_Silent_p.S1130S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1130					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.755208	512.469784	523.871814	145	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	71235466	71235466	14824	14	G	A	A	39	39	SIPA1L1	A	1	1
OR4F15	390649	broad.mit.edu	36	15	100176823	100176823	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:100176823G>A	uc002cde.1	+	c.911G>A	c.(910-912)CGT>CAT	p.R304H		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)											0.354839	99.747587	101.474911	33	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100176823	100176823	11468	15	G	A	A	40	40	OR4F15	A	1	1
ATP8B4	79895	broad.mit.edu	36	15	47955788	47955788	+	Silent	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:47955788C>T	uc001zxu.1	-	c.3006G>A	c.(3004-3006)TTG>TTA	p.L1002L	ATP8B4_uc010ber.1_Silent_p.L875L|ATP8B4_uc001zxt.1_Silent_p.L5L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1002	Helical; (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)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)										0.229508	110.136477	122.434659	42	141	CC		KEEP	---	---	---	---	capture			Silent	SNP	47955788	47955788	1216	15	C	T	T	21	21	ATP8B4	T	2	2
KIAA0556	23247	broad.mit.edu	36	16	27670686	27670686	+	Silent	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27670686G>A	uc002dow.1	+	c.3492G>A	c.(3490-3492)ACG>ACA	p.T1164T		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1164										ovary(4)|large_intestine(2)	6														0.433333	39.970728	40.086845	13	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	27670686	27670686	8490	16	G	A	A	39	39	KIAA0556	A	1	1
AXIN1	8312	broad.mit.edu	36	16	336591	336591	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:336591G>A	uc002cgp.1	-	c.436C>T	c.(436-438)CGA>TGA	p.R146*	AXIN1_uc002cgq.1_Nonsense_Mutation_p.R146*	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	146	RGS.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription elongation from RNA polymerase II promoter|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			liver(1)	1		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)								659		OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.539683	223.503881	223.677304	68	58	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	336591	336591	1257	16	G	A	A	39	39	AXIN1	A	5	1
CCDC113	29070	broad.mit.edu	36	16	56845446	56845446	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56845446G>A	uc002ene.1	+	c.272G>A	c.(271-273)CGT>CAT	p.R91H		NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	91						protein complex					0														0.440252	212.739272	213.231166	70	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56845446	56845446	2870	16	G	A	A	40	40	CCDC113	A	1	1
CENPN	55839	broad.mit.edu	36	16	79611291	79611291	+	Missense_Mutation	SNP	A	G	G			TCGA-12-1598-01	TCGA-12-1598-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79611291A>G	uc002ffy.2	+	c.440A>G	c.(439-441)TAC>TGC	p.Y147C	CENPN_uc002ffw.2_Missense_Mutation_p.Y147C|CENPN_uc002ffx.2_Missense_Mutation_p.Y147C	NM_001100625	NP_001094095	Q96H22	CENPN_HUMAN	centromere protein N isoform 1	147					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0														0.102804	11.955021	28.763989	11	96	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79611291	79611291	3371	16	A	G	G	14	14	CENPN	G	4	4
TMUB2	79089	broad.mit.edu	36	17	39623658	39623658	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39623658G>A	uc002ifo.1	+	c.866G>A	c.(865-867)CGA>CAA	p.R289Q	TMUB2_uc002ifp.1_Missense_Mutation_p.R269Q|TMUB2_uc002ifq.1_Missense_Mutation_p.R289Q|TMUB2_uc002ifr.1_3'UTR|TMUB2_uc002ifs.1_Missense_Mutation_p.R120Q|TMUB2_uc002ift.1_Missense_Mutation_p.R269Q|TMUB2_uc002ifu.1_3'UTR|TMUB2_uc002ifv.1_Missense_Mutation_p.R269Q|TMUB2_uc002ifx.1_3'UTR|TMUB2_uc002ify.1_Non-coding_Transcript	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	289						integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)										0.45283	73.897553	73.999554	24	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39623658	39623658	16806	17	G	A	A	37	37	TMUB2	A	1	1
FTSJ3	117246	broad.mit.edu	36	17	59252608	59252608	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59252608G>A	uc002jbz.1	-	c.1724C>T	c.(1723-1725)CCT>CTT	p.P575L	FTSJ3_uc002jca.1_Missense_Mutation_p.P575L	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	575					rRNA methylation	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1														0.536	213.508069	213.647338	67	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59252608	59252608	6340	17	G	A	A	35	35	FTSJ3	A	2	2
TP53	7157	broad.mit.edu	36	17	7517819	7517819	+	Missense_Mutation	SNP	G	A	A	rs28934574	unknown	TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7517819G>A	uc002gim.2	-	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (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.R282W(358)|p.R282G(25)|p.0?(6)|p.R282R(3)|p.R282fs*24(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.?(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.741176	218.503958	222.963209	63	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7517819	7517819	16923	17	G	A	A	39	39	TP53	A	1	1
ARHGAP28	79822	broad.mit.edu	36	18	6877167	6877167	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6877167G>A	uc002knc.1	+	c.1309G>A	c.(1309-1311)GTC>ATC	p.V437I	ARHGAP28_uc002knd.1_Missense_Mutation_p.V330I|ARHGAP28_uc002kne.1_Missense_Mutation_p.V330I|ARHGAP28_uc002knf.1_Missense_Mutation_p.V321I	NM_030672	NP_109597	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28 isoform b	312					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)												0.393365	265.195946	267.290716	83	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6877167	6877167	889	18	G	A	A	40	40	ARHGAP28	A	1	1
ASNA1	439	broad.mit.edu	36	19	12709341	12709341	+	Missense_Mutation	SNP	T	G	G			TCGA-12-1598-01	TCGA-12-1598-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12709341T>G	uc002muv.1	+	c.22T>G	c.(22-24)TGG>GGG	p.W8G	ASNA1_uc002muw.1_Missense_Mutation_p.W8G|C19orf43_uc002muu.1_5'Flank	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	8					cellular metal ion homeostasis	endoplasmic reticulum|nucleolus|soluble fraction	arsenite transmembrane transporter activity|ATP binding|hydrolase activity|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)									1	8.643983	8.525717	3	0	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12709341	12709341	1066	19	T	G	G	59	59	ASNA1	G	4	4
OR7D2	162998	broad.mit.edu	36	19	9158253	9158253	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9158253C>T	uc002mkz.1	+	c.796C>T	c.(796-798)CAC>TAC	p.H266Y		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	266	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.100806	22.286349	61.739111	25	223	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9158253	9158253	11630	19	C	T	T	29	29	OR7D2	T	2	2
FCRL5	83416	broad.mit.edu	36	1	155752127	155752127	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155752127C>T	uc001fqu.1	-	c.2896G>A	c.(2896-2898)GGA>AGA	p.G966R	FCRL5_uc009wsm.1_Silent_p.P962P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	966	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.758065	170.559488	174.331428	47	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155752127	155752127	6035	1	C	T	T	23	23	FCRL5	T	1	1
EPHA2	1969	broad.mit.edu	36	1	16337364	16337364	+	Silent	SNP	A	T	T			TCGA-12-1598-01	TCGA-12-1598-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16337364A>T	uc001aya.1	-	c.972T>A	c.(970-972)CCT>CCA	p.P324P		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2	324	Extracellular (Potential).|Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|ephrin receptor signaling pathway|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|protein phosphorylation|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|leading edge membrane	ATP binding|ephrin receptor activity|protein binding			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)					485				0.205128	12.774013	15.926212	8	31	AA		KEEP	---	---	---	---	capture			Silent	SNP	16337364	16337364	5360	1	A	T	T	3	3	EPHA2	T	4	4
ECE1	1889	broad.mit.edu	36	1	21459360	21459360	+	Missense_Mutation	SNP	C	A	A			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:21459360C>A	uc001bek.2	-	c.606G>T	c.(604-606)TTG>TTT	p.L202F	ECE1_uc001bem.2_Missense_Mutation_p.L186F|ECE1_uc001bej.2_Missense_Mutation_p.L190F|ECE1_uc001bei.2_Missense_Mutation_p.L199F|ECE1_uc009vqa.1_Missense_Mutation_p.L202F	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	202	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|peptide hormone binding|protein homodimerization activity			ovary(2)	2		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)										0.340502	257.419128	263.702266	95	184	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21459360	21459360	5076	1	C	A	A	29	29	ECE1	A	3	3
SUSD4	55061	broad.mit.edu	36	1	221467663	221467663	+	Silent	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221467663C>T	uc001hnx.1	-	c.957G>A	c.(955-957)ACG>ACA	p.T319T	SUSD4_uc001hny.2_Silent_p.T319T	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	319	Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)										0.705882	165.327366	167.911253	48	20	CC		KEEP	---	---	---	---	capture			Silent	SNP	221467663	221467663	15930	1	C	T	T	19	19	SUSD4	T	1	1
OR2T27	403239	broad.mit.edu	36	1	246880396	246880396	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246880396C>T	uc001iet.1	-	c.413G>A	c.(412-414)CGC>CAC	p.R138H		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.314286	322.314493	333.061263	110	240	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	246880396	246880396	11427	1	C	T	T	27	27	OR2T27	T	1	1
AIM1L	55057	broad.mit.edu	36	1	26541849	26541849	+	Silent	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26541849G>A	uc001bmd.2	-	c.52C>T	c.(52-54)CTA>TTA	p.L18L	AIM1L_uc009vsh.1_3'UTR	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	18							sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)										0.607143	165.523501	166.364615	51	33	GG		KEEP	---	---	---	---	capture			Silent	SNP	26541849	26541849	434	1	G	A	A	35	35	AIM1L	A	2	2
MYH7B	57644	broad.mit.edu	36	20	33036579	33036579	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33036579C>T	uc002xbi.1	+	c.917C>T	c.(916-918)GCG>GTG	p.A306V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	264	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)											0.395349	53.99708	54.398619	17	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33036579	33036579	10435	20	C	T	T	27	27	MYH7B	T	1	1
TMPRSS15	5651	broad.mit.edu	36	21	18588584	18588584	+	Missense_Mutation	SNP	C	G	G			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:18588584C>G	uc002ykw.1	-	c.2360G>C	c.(2359-2361)GGA>GCA	p.G787A		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	787	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|breast(1)	6														0.409091	118.98693	119.621213	36	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18588584	18588584	16787	21	C	G	G	30	30	TMPRSS15	G	3	3
LRP1B	53353	broad.mit.edu	36	2	140832904	140832904	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:140832904C>T	uc002tvj.1	-	c.11213G>A	c.(11212-11214)GGG>GAG	p.G3738E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3738	Extracellular (Potential).|LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.484076	759.734949	759.835299	228	243	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140832904	140832904	9328	2	C	T	T	22	22	LRP1B	T	2	2
PIKFYVE	200576	broad.mit.edu	36	2	208898355	208898355	+	Missense_Mutation	SNP	A	G	G			TCGA-12-1598-01	TCGA-12-1598-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:208898355A>G	uc002vcz.1	+	c.2575A>G	c.(2575-2577)ATG>GTG	p.M859V	PIKFYVE_uc010fun.1_Missense_Mutation_p.M540V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.M803V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	859					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9									p.M859V(COLO668-Tumor)	756				0.461538	245.48977	245.689979	72	84	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	208898355	208898355	12348	2	A	G	G	16	16	PIKFYVE	G	4	4
PAX3	5077	broad.mit.edu	36	2	222775077	222775077	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:222775077C>T	uc002vmt.1	-	c.1250G>A	c.(1249-1251)GGG>GAG	p.G417E	PAX3_uc002vmy.1_Missense_Mutation_p.G416E|PAX3_uc002vmv.1_Missense_Mutation_p.G417E|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron|PAX3_uc010fwo.1_Missense_Mutation_p.G417E	NM_181459	NP_852124	P23760	PAX3_HUMAN	paired box 3 isoform PAX3e	417					apoptosis|organ morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)	765		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)						141				0.363636	23.40292	23.758997	8	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	222775077	222775077	11900	2	C	T	T	22	22	PAX3	T	2	2
NEU2	4759	broad.mit.edu	36	2	233607115	233607115	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233607115C>T	uc002vtu.1	+	c.247C>T	c.(247-249)CGG>TGG	p.R83W		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	83							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)										0.155844	19.821824	28.60459	12	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	233607115	233607115	10741	2	C	T	T	23	23	NEU2	T	1	1
MAP4K3	8491	broad.mit.edu	36	2	39331268	39331268	+	Missense_Mutation	SNP	A	C	C			TCGA-12-1598-01	TCGA-12-1598-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:39331268A>C	uc002rro.1	-	c.2680T>G	c.(2680-2682)TAC>GAC	p.Y894D	MAP4K3_uc002rrp.1_Missense_Mutation_p.Y873D	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	894					JNK cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|pancreas(1)	7		all_hematologic(82;0.211)								525				0.453125	101.970934	102.092985	29	35	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39331268	39331268	9644	2	A	C	C	13	13	MAP4K3	C	4	4
P2RY13	53829	broad.mit.edu	36	3	152528672	152528672	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152528672C>T	uc003eyu.1	-	c.799G>A	c.(799-801)GAC>AAC	p.D267N	MED12L_uc003eyp.1_Intron|P2RY13_uc003eyv.1_Missense_Mutation_p.D267N	NM_023914	NP_795713	Q9BPV8	P2Y13_HUMAN	Putative G protein-coupled receptor GPCR1.	288	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(3)	3			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)											0.482143	346.281684	346.344082	108	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152528672	152528672	11763	3	C	T	T	29	29	P2RY13	T	2	2
DNAJC19	131118	broad.mit.edu	36	3	182188506	182188506	+	Missense_Mutation	SNP	G	C	C			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:182188506G>C	uc003fkt.1	-	c.128C>G	c.(127-129)TCT>TGT	p.S43C	DNAJC19_uc003fku.1_Non-coding_Transcript	NM_145261	NP_660304	Q96DA6	TIM14_HUMAN	translocase of the inner mitochondrial membrane	43	Mitochondrial matrix (Potential).				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding				0	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)											0.269231	40.225412	42.72558	14	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	182188506	182188506	4821	3	G	C	C	33	33	DNAJC19	C	3	3
NKTR	4820	broad.mit.edu	36	3	42654556	42654556	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42654556G>A	uc003clo.1	+	c.2356G>A	c.(2356-2358)GTC>ATC	p.V786I	NKTR_uc003clm.1_Missense_Mutation_p.V533I|NKTR_uc003clp.1_Missense_Mutation_p.V533I|NKTR_uc003clq.1_Missense_Mutation_p.V676I|NKTR_uc003clr.1_Missense_Mutation_p.V533I|NKTR_uc003cls.1_Missense_Mutation_p.V486I	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	786	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.24)										0.442105	262.141926	262.701253	84	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42654556	42654556	10849	3	G	A	A	48	48	NKTR	A	2	2
SETD2	29072	broad.mit.edu	36	3	47133156	47133156	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47133156C>T	uc003cqs.1	-	c.3038G>A	c.(3037-3039)TGT>TAT	p.C1013Y		NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1516	AWS.				oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)										0.368056	317.763402	322.17526	106	182	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47133156	47133156	14620	3	C	T	T	17	17	SETD2	T	2	2
NEUROG2	63973	broad.mit.edu	36	4	113655319	113655319	+	Silent	SNP	T	G	G			TCGA-12-1598-01	TCGA-12-1598-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113655319T>G	uc003ias.1	-	c.762A>C	c.(760-762)CCA>CCC	p.P254P	NEUROG2_uc010imp.1_Silent_p.P254P	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	254					transcription, DNA-dependent	nucleus	transcription regulator activity			central_nervous_system(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)										0.2	6.53532	9.204041	6	24	TT		KEEP	---	---	---	---	capture			Silent	SNP	113655319	113655319	10753	4	T	G	G	59	59	NEUROG2	G	4	4
PDGFC	56034	broad.mit.edu	36	4	157990964	157990964	+	Missense_Mutation	SNP	A	G	G			TCGA-12-1598-01	TCGA-12-1598-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:157990964A>G	uc003iph.1	-	c.173T>C	c.(172-174)ATT>ACT	p.I58T	PDGFC_uc003ipi.1_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	58	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)										0.396694	151.777407	152.9055	48	73	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157990964	157990964	12080	4	A	G	G	4	4	PDGFC	G	4	4
TLR6	10333	broad.mit.edu	36	4	38506552	38506552	+	Missense_Mutation	SNP	G	C	C			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38506552G>C	uc003gtm.2	-	c.938C>G	c.(937-939)ACG>AGG	p.T313R	TLR6_uc010ifg.1_Missense_Mutation_p.T313R|TLR6_uc010ifh.1_Missense_Mutation_p.T313R	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	313	Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.132075	13.089362	20.057674	7	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38506552	38506552	16485	4	G	C	C	40	40	TLR6	C	3	3
TEC	7006	broad.mit.edu	36	4	47846398	47846398	+	Nonsense_Mutation	SNP	G	T	T			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47846398G>T	uc003gxz.1	-	c.939C>A	c.(937-939)TAC>TAA	p.Y313*		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	313	SH2.				intracellular protein kinase cascade|protein phosphorylation	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(1)	5										498				0.356784	218.070179	221.665249	71	128	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	47846398	47846398	16269	4	G	T	T	44	44	TEC	T	5	3
PROL1	58503	broad.mit.edu	36	4	71310041	71310041	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:71310041C>T	uc003hfi.1	+	c.407C>T	c.(406-408)CCT>CTT	p.P136L		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	136	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)												0.484536	294.815806	294.856888	94	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71310041	71310041	12997	4	C	T	T	24	24	PROL1	T	2	2
FAT2	2196	broad.mit.edu	36	5	150881543	150881543	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150881543C>T	uc003lue.2	-	c.10804G>A	c.(10804-10806)GTC>ATC	p.V3602I	FAT2_uc003lud.2_Missense_Mutation_p.V295I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3602	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.392157	115.079295	116.116737	40	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150881543	150881543	5926	5	C	T	T	19	19	FAT2	T	1	1
NIPBL	25836	broad.mit.edu	36	5	37021585	37021585	+	Missense_Mutation	SNP	C	G	G			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37021585C>G	uc003jkl.2	+	c.2546C>G	c.(2545-2547)TCT>TGT	p.S849C	NIPBL_uc003jkk.2_Missense_Mutation_p.S849C|NIPBL_uc003jkm.1_Missense_Mutation_p.S728C	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	849					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)							934				0.094241	14.10102	45.700356	18	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37021585	37021585	10829	5	C	G	G	32	32	NIPBL	G	3	3
ELOVL7	79993	broad.mit.edu	36	5	60095900	60095900	+	Missense_Mutation	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:60095900C>T	uc003jsi.2	-	c.410G>A	c.(409-411)CGC>CAC	p.R137H	ELOVL7_uc010iwk.1_Missense_Mutation_p.R137H|ELOVL7_uc003jsj.2_Missense_Mutation_p.R124H	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	137					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)												0.347458	126.650876	129.069203	41	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60095900	60095900	5271	5	C	T	T	27	27	ELOVL7	T	1	1
ADAMTS6	11174	broad.mit.edu	36	5	64784450	64784450	+	Missense_Mutation	SNP	G	C	C			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:64784450G>C	uc003jtp.1	-	c.683C>G	c.(682-684)TCT>TGT	p.S228C	ADAMTS6_uc003jto.1_Non-coding_Transcript|ADAMTS6_uc003jtq.1_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	228					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)										0.190909	102.263975	121.885051	42	178	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64784450	64784450	271	5	G	C	C	33	33	ADAMTS6	C	3	3
HLA-DOA	3111	broad.mit.edu	36	6	33083887	33083887	+	Missense_Mutation	SNP	A	T	T			TCGA-12-1598-01	TCGA-12-1598-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33083887A>T	uc003ocr.1	-	c.212T>A	c.(211-213)CTG>CAG	p.L71Q	HLA-DOA_uc010jui.1_Missense_Mutation_p.L71Q	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	71	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0														0.45614	80.045353	80.140451	26	31	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33083887	33083887	7491	6	A	T	T	7	7	HLA-DOA	T	4	4
SLC17A5	26503	broad.mit.edu	36	6	74366842	74366842	+	Missense_Mutation	SNP	T	C	C			TCGA-12-1598-01	TCGA-12-1598-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74366842T>C	uc003phn.2	-	c.1303A>G	c.(1303-1305)ATT>GTT	p.I435V	SLC17A5_uc010kax.1_Missense_Mutation_p.I94V|SLC17A5_uc010kay.1_Non-coding_Transcript	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	435	Helical; (Potential).				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity				0														0.245509	117.093552	126.94241	41	126	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74366842	74366842	14916	6	T	C	C	49	49	SLC17A5	C	4	4
SERPINE1	5054	broad.mit.edu	36	7	100565762	100565762	+	Silent	SNP	C	T	T			TCGA-12-1598-01	TCGA-12-1598-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100565762C>T	uc003uxt.2	+	c.1047C>T	c.(1045-1047)ATC>ATT	p.I349I	SERPINE1_uc003uxu.1_3'UTR	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1	349					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)									0.129032	7.386498	11.53329	4	27	CC		KEEP	---	---	---	---	capture			Silent	SNP	100565762	100565762	14599	7	C	T	T	31	31	SERPINE1	T	1	1
POM121L12	285877	broad.mit.edu	36	7	53071150	53071150	+	Missense_Mutation	SNP	A	G	G			TCGA-12-1598-01	TCGA-12-1598-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:53071150A>G	uc003tpz.1	+	c.292A>G	c.(292-294)AGG>GGG	p.R98G		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	hypothetical protein LOC285877	98											0														0.444444	25.298934	25.347013	8	10	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53071150	53071150	12669	7	A	G	G	11	11	POM121L12	G	4	4
COL14A1	7373	broad.mit.edu	36	8	121293880	121293880	+	Missense_Mutation	SNP	G	C	C			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121293880G>C	uc003yox.1	+	c.1480G>C	c.(1480-1482)GAG>CAG	p.E494Q	COL14A1_uc010mde.1_Missense_Mutation_p.E172Q|COL14A1_uc003yoy.2_Missense_Mutation_p.E172Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	494	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.296296	73.46742	76.473923	24	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121293880	121293880	3809	8	G	C	C	33	33	COL14A1	C	3	3
C8orf45	157777	broad.mit.edu	36	8	67965812	67965812	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:67965812G>A	uc003xww.1	+	c.1217G>A	c.(1216-1218)GGA>GAA	p.G406E	C8orf45_uc003xwx.1_Missense_Mutation_p.G406E|C8orf45_uc003xwy.2_Missense_Mutation_p.G282E|C8orf45_uc003xwz.2_5'UTR	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	411					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)											0.488	200.469488	200.485176	61	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67965812	67965812	2540	8	G	A	A	41	41	C8orf45	A	2	2
CDH17	1015	broad.mit.edu	36	8	95259056	95259056	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95259056G>A	uc003ygh.1	-	c.220C>T	c.(220-222)CGG>TGG	p.R74W		NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	74	Extracellular (Potential).|Cadherin 1.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.511905	134.806117	134.816021	43	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95259056	95259056	3231	8	G	A	A	40	40	CDH17	A	1	1
C9orf171	389799	broad.mit.edu	36	9	134347524	134347524	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134347524G>A	uc004cbn.1	+	c.202G>A	c.(202-204)GGC>AGC	p.G68S	C9orf171_uc004cbo.1_Intron	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	68										ovary(4)|large_intestine(1)	5														0.384615	47.217307	47.671947	15	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134347524	134347524	2585	9	G	A	A	39	39	C9orf171	A	1	1
DBH	1621	broad.mit.edu	36	9	135502805	135502805	+	Silent	SNP	A	T	T			TCGA-12-1598-01	TCGA-12-1598-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135502805A>T	uc004cel.1	+	c.1041A>T	c.(1039-1041)TCA>TCT	p.S347S		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta-hydroxylase precursor	347	Intragranular (Potential).				hormone biosynthetic process|oxidation-reduction process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)									0.176471	11.134025	16.186168	9	42	AA		KEEP	---	---	---	---	capture			Silent	SNP	135502805	135502805	4421	9	A	T	T	7	7	DBH	T	4	4
MORC4	79710	broad.mit.edu	36	X	106073051	106073051	+	Silent	SNP	G	T	T			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:106073051G>T	uc004emu.2	-	c.1726C>A	c.(1726-1728)CGA>AGA	p.R576R	MORC4_uc004emp.2_Intron|MORC4_uc004emv.2_Silent_p.R576R|MORC4_uc004emw.2_Silent_p.R324R	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	576							ATP binding|zinc ion binding			ovary(1)	1														0.146018	63.8326	91.053232	33	193	GG		KEEP	---	---	---	---	capture			Silent	SNP	106073051	106073051	10095	23	G	T	T	40	40	MORC4	T	3	3
BCOR	54880	broad.mit.edu	36	X	39818389	39818389	+	Missense_Mutation	SNP	G	A	A			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:39818389G>A	uc004den.2	-	c.1154C>T	c.(1153-1155)GCG>GTG	p.A385V	BCOR_uc004dep.2_Missense_Mutation_p.A385V|BCOR_uc004deo.2_Missense_Mutation_p.A385V|BCOR_uc004dem.2_Missense_Mutation_p.A385V|BCOR_uc004deq.2_Missense_Mutation_p.A385V	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	385					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.342857	34.486057	35.251105	12	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39818389	39818389	1407	23	G	A	A	38	38	BCOR	A	1	1
ARHGEF9	23229	broad.mit.edu	36	X	62815128	62815128	+	Missense_Mutation	SNP	G	T	T			TCGA-12-1598-01	TCGA-12-1598-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:62815128G>T	uc004dvl.2	-	c.611C>A	c.(610-612)GCT>GAT	p.A204D	ARHGEF9_uc004dvn.1_Missense_Mutation_p.A211D|ARHGEF9_uc004dvj.1_Missense_Mutation_p.A93D|ARHGEF9_uc004dvk.1_Missense_Mutation_p.A66D|ARHGEF9_uc004dvm.1_Missense_Mutation_p.A183D	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	204	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8														0.186047	18.174592	22.146545	8	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62815128	62815128	927	23	G	T	T	34	34	ARHGEF9	T	3	3
SPIRE2	84501	broad.mit.edu	36	16	88449523	88449523	+	Frame_Shift_Del	DEL	C	-	-			TCGA-12-1598-01	TCGA-12-1598-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:88449523_88449523delC	uc002foz.1	+	c.906_906delC	c.(904-906)ATCfs	p.I302fs	SPIRE2_uc010civ.1_Frame_Shift_Del_p.I217fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.I302fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.I254fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.I169fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	302					transport	cytoplasm|cytoskeleton	actin binding|zinc ion binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	88449523	88449523	15585	16	C	-	-	30	30	SPIRE2	-	5	5
IGSF9	57549	broad.mit.edu	36	1	158165214	158165215	+	Frame_Shift_Ins	INS	-	G	G			TCGA-12-1598-01	TCGA-12-1598-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158165214_158165215insG	uc001fur.1	-	c.2587_2588insC	c.(2587-2589)CAGfs	p.Q863fs	IGSF9_uc001fup.1_Frame_Shift_Ins_p.Q9fs|IGSF9_uc001fuq.1_Frame_Shift_Ins_p.Q847fs	NM_020789	NP_065840	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform b	863	Pro-rich.|Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)											0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	158165214	158165215	7906	1	-	G	G	55	55	IGSF9	G	5	5
EPHA8	2046	broad.mit.edu	36	1	22800383	22800383	+	Frame_Shift_Del	DEL	C	-	-			TCGA-12-1598-01	TCGA-12-1598-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22800383_22800383delC	uc001bfx.1	+	c.2733_2733delC	c.(2731-2733)TGCfs	p.C911fs		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	911	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)						520				0.38			14	23				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	22800383	22800383	5366	1	C	-	-	26	26	EPHA8	-	5	5
CRNKL1	51340	broad.mit.edu	36	20	19966196	19966197	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-12-1598-01	TCGA-12-1598-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:19966196_19966197delTG	uc002wrs.1	-	c.2149_2150delCA	c.(2149-2151)CAGfs	p.Q717fs		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	717	HAT 14.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3														0.45			77	96				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	19966196	19966197	4030	20	TG	-	-	55	55	CRNKL1	-	5	5
