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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PRKCZ	5590	broad.mit.edu	37	1	2103541	2103541	+	Missense_Mutation	SNP	G	G	A	rs147033679		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:2103541G>A	uc001aiq.2	+	12	1270	c.1109G>A	c.(1108-1110)AGG>AAG	p.R370K	PRKCZ_uc001air.2_Missense_Mutation_p.R187K|PRKCZ_uc010nyw.1_Missense_Mutation_p.R266K|PRKCZ_uc001ais.2_Missense_Mutation_p.R187K|PRKCZ_uc009vla.2_Missense_Mutation_p.R194K|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Missense_Mutation_p.R218K	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	370	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CTGCACGAGAGGGGGATCATC	0.627		NA											9	81					0	0	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690423	27690423	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:27690423G>A	uc001bny.1	-	5	1098	c.849C>T	c.(847-849)TCC>TCT	p.S283S	MAP3K6_uc009vsw.1_Silent_p.S275S|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	283					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATCGCGGTAGGAGAGCAGCA	0.373		NA											4	32					0	0	0	0
SNRNP40	9410	broad.mit.edu	37	1	31754270	31754270	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:31754270T>A	uc001bso.2	-	5	651	c.605A>T	c.(604-606)AAT>ATT	p.N202I	SNRNP40_uc010oge.1_Missense_Mutation_p.N202I	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	WD repeat domain 57 (U5 snRNP specific)	202	WD 4.					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding				0						ACTTGTGTCATTGAAGGTCAC	0.393		NA											22	66					0	0	0	0
OLFM3	118427	broad.mit.edu	37	1	102290781	102290781	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:102290781G>A	uc001duf.2	-	4	524	c.453C>T	c.(451-453)GAC>GAT	p.D151D	OLFM3_uc001dug.2_Silent_p.D131D|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.D56D|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	151	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCAGGAGCTCGTCCATTTTCT	0.408		NA											4	37					0	0	0	0
CD53	963	broad.mit.edu	37	1	111434046	111434046	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:111434046T>A	uc001dzw.2	+	3	187	c.16T>A	c.(16-18)TTG>ATG	p.L6M	CD53_uc001dzx.2_Missense_Mutation_p.L6M|CD53_uc010owa.1_Missense_Mutation_p.L6M|CD53_uc001dzy.2_Missense_Mutation_p.L6M	NM_001040033	NP_001035122	P19397	CD53_HUMAN	CD53 antigen	6	Cytoplasmic (Potential).				signal transduction	integral to membrane|plasma membrane					0		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CATGAGTAGCTTGAAACTGCT	0.438		NA											6	125					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293473	145293473	+	Missense_Mutation	SNP	C	C	A	rs57489144		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:145293473C>A	uc001end.3	+	1	103	c.68C>A	c.(67-69)ACA>AAA	p.T23K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.T23K|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.T23K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	23											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATCAACGAGACATTGCGCCCC	0.517		NA											10	775					1.15e-07	1.29e-07	1	0
HRNR	388697	broad.mit.edu	37	1	152192431	152192431	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:152192431A>G	uc001ezt.1	-	3	1750	c.1674T>C	c.(1672-1674)TAT>TAC	p.Y558Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	558	5				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTGGGCCATAGCTGGAAG	0.582		NA											30	171					0	0	0	0
MNDA	4332	broad.mit.edu	37	1	158815770	158815770	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:158815770T>G	uc001fsz.1	+	5	1164	c.964T>G	c.(964-966)TAT>GAT	p.Y322D		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	322	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AACAATGGTGTATGGGTTGTT	0.323		NA											19	111					0	0	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306589	205306589	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:205306589C>T	uc001hcf.1	-	6	1559	c.991G>A	c.(991-993)GTG>ATG	p.V331M	KLHDC8A_uc010prg.1_Missense_Mutation_p.V218M|KLHDC8A_uc001hcg.1_Missense_Mutation_p.V331M	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	331										ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACCTCCCACGGCGAGGAGG	0.592		NA											29	180					0	0	0	0
RSU1	6251	broad.mit.edu	37	10	16794619	16794619	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:16794619G>T	uc001iok.2	-	6	819	c.517C>A	c.(517-519)CCT>ACT	p.P173T	RSU1_uc001iol.2_Missense_Mutation_p.P173T|RSU1_uc001iom.2_Missense_Mutation_p.P120T|RSU1_uc001ion.2_Missense_Mutation_p.P173T	NM_152724	NP_689937	Q15404	RSU1_HUMAN	ras suppressor protein 1 isoform 2	173	LRR 6.				cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(1;7.54e-08)		ATTTCCTTAGGCAGCGAGATC	0.473		NA											14	106					1.5e-05	1.64e-05	1	0
CUBN	8029	broad.mit.edu	37	10	17168789	17168789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:17168789G>C	uc001ioo.2	-	4	410	c.358C>G	c.(358-360)CTT>GTT	p.L120V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	120					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCTCAAGATCCACCAGC	0.408		NA											22	61					0	0	0	0
FAM13C	220965	broad.mit.edu	37	10	61028362	61028362	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:61028362C>A	uc001jkn.2	-	9	1027	c.893G>T	c.(892-894)CGG>CTG	p.R298L	FAM13C_uc001jko.2_Missense_Mutation_p.R298L|FAM13C_uc010qid.1_Missense_Mutation_p.R215L|FAM13C_uc010qie.1_Missense_Mutation_p.R215L|FAM13C_uc010qif.1_Missense_Mutation_p.R320L|FAM13C_uc001jkp.2_Missense_Mutation_p.R215L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	298										ovary(2)	2						CCGAATTTTCCGCTTGAGGCT	0.502		NA											6	52					3.6e-05	3.89e-05	1	0
MUC6	4588	broad.mit.edu	37	11	1018137	1018137	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:1018137C>T	uc001lsw.2	-	31	4715	c.4664G>A	c.(4663-4665)AGA>AAA	p.R1555K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1555	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACAGGGGTTCTGGTGCGTGT	0.572		NA											40	276					0	0	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137212	40137212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:40137212C>A	uc001mxa.1	-	2	2595	c.631G>T	c.(631-633)GAA>TAA	p.E211*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.E207*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.E207*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.E207*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	211	LRR 6.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTAGGGATTTCCCGAAGGTTG	0.453		NA											31	98					8.89e-20	1.04e-19	1	0
ALG9	79796	broad.mit.edu	37	11	111731328	111731328	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:111731328C>T	uc001pmb.2	-	6	606	c.507G>A	c.(505-507)GTG>GTA	p.V169V	ALG9_uc001ply.2_5'UTR|ALG9_uc001plz.2_5'UTR|ALG9_uc010rwm.1_Silent_p.V169V|ALG9_uc010rwn.1_Silent_p.V123V|ALG9_uc010rwo.1_5'UTR|ALG9_uc009yyh.1_Silent_p.V64V	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN	asparagine-linked glycosylation 9 protein	169	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			large_intestine(1)|ovary(1)	2		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TCATTCGACTCACGTGCAACC	0.428		NA											10	32					0	0	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121202	114121202	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:114121202G>A	uc001pop.2	+	7	2211	c.1947G>A	c.(1945-1947)ATG>ATA	p.M649I	ZBTB16_uc001poq.2_Missense_Mutation_p.M649I	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	649	C2H2-type 9.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAAGCACATGAAGGGCCACA	0.617		NA											8	90					0	0	0	0
CD163L1	283316	broad.mit.edu	37	12	7586143	7586143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:7586143C>T	uc001qsy.2	-	3	298	c.272G>A	c.(271-273)TGT>TAT	p.C91Y	CD163L1_uc010sge.1_Missense_Mutation_p.C91Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	91	SRCR 1.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						AGAAAATGGACATCCAAGCTG	0.473		NA											14	89					0	0	0	0
RAB5B	5869	broad.mit.edu	37	12	56380870	56380870	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:56380870A>G	uc001siv.2	+	2	243	c.126A>G	c.(124-126)AAA>AAG	p.K42K	RAB5B_uc001siw.2_Silent_p.K42K|RAB5B_uc009zog.2_Missense_Mutation_p.K33R|RAB5B_uc010spz.1_Silent_p.K42K	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	42					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTTTTGTCAAAGGGCAGTTCC	0.448		NA											20	30					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78598823	78598823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:78598823C>T	uc001syp.2	+	39	7116	c.6943C>T	c.(6943-6945)CGA>TGA	p.R2315*	NAV3_uc001syo.2_Nonsense_Mutation_p.R2293*|NAV3_uc010sub.1_Nonsense_Mutation_p.R1772*|NAV3_uc009zsf.2_Nonsense_Mutation_p.R1124*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2315						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACTTCAGCTGCGACCAGAAGA	0.512		NA								HNSCC(70;0.22)			10	34					0	0	0	0
CCDC38	120935	broad.mit.edu	37	12	96288830	96288830	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:96288830C>A	uc001tek.1	-	8	943	c.709G>T	c.(709-711)GCA>TCA	p.A237S		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	237										skin(1)	1						CTTTTTAGTGCTTGCTGGATT	0.333		NA											19	200					2.58e-16	3e-16	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184666	130184666	+	Silent	SNP	C	C	T	rs143084996	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:130184666C>T	uc009zyl.1	-	2	985	c.657G>A	c.(655-657)CCG>CCA	p.P219P		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	219	Extracellular (Potential).					integral to membrane		p.P219L(1)		ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGTCCCCTCCGGCTGGTCCA	0.682		NA											11	86					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39266304	39266304	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:39266304G>C	uc001uwv.2	+	1	5132	c.4823G>C	c.(4822-4824)GGC>GCC	p.G1608A		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1608	Extracellular (Potential).|CSPG 11.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAACATGATGGCACTGAGTCA	0.423		NA											13	119					0	0	0	0
TOX4	9878	broad.mit.edu	37	14	21961325	21961325	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr14:21961325A>C	uc001waz.2	+	7	1653	c.1550A>C	c.(1549-1551)GAG>GCG	p.E517A	TOX4_uc001way.2_Missense_Mutation_p.E387A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.E494A|TOX4_uc010tlv.1_Missense_Mutation_p.E387A	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	517	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.E517Q(1)		ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGTAGTCCTGAGCGGCCTATG	0.507		NA											13	93					0	0	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376459	75376459	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr14:75376459C>T	uc010tux.1	-	7	1585	c.1057G>A	c.(1057-1059)GGC>AGC	p.G353S	RPS6KL1_uc001xqx.1_Missense_Mutation_p.G105S|RPS6KL1_uc001xqw.2_Missense_Mutation_p.G322S|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	353	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		AGCACCGGGCCGGCCCCCTCA	0.692		NA											9	37					0	0	0	0
CDAN1	146059	broad.mit.edu	37	15	43023936	43023936	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr15:43023936G>A	uc001zql.2	-	11	1738	c.1621C>T	c.(1621-1623)CGG>TGG	p.R541W	CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	541						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGCCACAACCGCCCCAGCTTG	0.627		NA											4	97					0	0	0	0
PDXDC1	23042	broad.mit.edu	37	16	15122790	15122790	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:15122790G>A	uc002dda.3	+	15	1484	c.1260G>A	c.(1258-1260)CGG>CGA	p.R420R	PDXDC1_uc010uzl.1_Silent_p.R405R|PDXDC1_uc010uzm.1_Silent_p.R329R|PDXDC1_uc002dcz.2_Silent_p.R397R|PDXDC1_uc002ddb.3_Silent_p.R393R|PDXDC1_uc010uzn.1_Silent_p.R392R|PDXDC1_uc002ddc.2_Silent_p.R420R	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	420					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GAGTCGGCCGGGAGAGGCACT	0.582		NA											4	60					0	0	0	0
XYLT1	64131	broad.mit.edu	37	16	17353318	17353318	+	Missense_Mutation	SNP	C	C	G	rs150531859	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:17353318C>G	uc002dfa.2	-	3	525	c.440G>C	c.(439-441)CGA>CCA	p.R147P		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	147	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GCTGTCTGTTCGCACTTTCTC	0.463		NA											15	83					0	0	0	0
NETO2	81831	broad.mit.edu	37	16	47117173	47117173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:47117173G>A	uc002eer.1	-	9	1922	c.1537C>T	c.(1537-1539)CGA>TGA	p.R513*	NETO2_uc002eeq.1_Nonsense_Mutation_p.R248*|NETO2_uc010vgf.1_Nonsense_Mutation_p.R370*	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	513	Cytoplasmic (Potential).					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GAATCTTCTCGCCCCCTGACA	0.478		NA								HNSCC(25;0.065)			16	143					0	0	0	0
NAE1	8883	broad.mit.edu	37	16	66850564	66850564	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:66850564T>A	uc002eqf.2	-	11	837	c.760A>T	c.(760-762)AAT>TAT	p.N254Y	NAE1_uc002eqe.2_Missense_Mutation_p.N248Y|NAE1_uc002eqg.2_Missense_Mutation_p.N165Y|NAE1_uc010cdv.2_Missense_Mutation_p.N257Y|NAE1_uc010cdw.1_3'UTR	NM_003905	NP_003896	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1 isoform a	254					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CCATTTTCATTTTTTAGAATT	0.353		NA											5	49					0	0	0	0
DHX33	56919	broad.mit.edu	37	17	5357158	5357158	+	Silent	SNP	G	G	A	rs147168886	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:5357158G>A	uc002gca.2	-	7	1292	c.1290C>T	c.(1288-1290)ACC>ACT	p.T430T	DHX33_uc002gbz.2_Silent_p.T201T|DHX33_uc002gcb.2_Silent_p.T257T|DHX33_uc010clf.2_Silent_p.T206T	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	430	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						TCTCTGGCACGGTCATCTTAT	0.562		NA											18	26					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:7577058C>A	uc002gim.2	-	8	1074	c.880G>T	c.(880-882)GAG>TAG	p.E294*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E294*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E162*|TP53_uc010cng.1_Nonsense_Mutation_p.E162*|TP53_uc002gii.1_Nonsense_Mutation_p.E162*|TP53_uc010cnh.1_Nonsense_Mutation_p.E294*|TP53_uc010cni.1_Nonsense_Mutation_p.E294*|TP53_uc002gij.2_Nonsense_Mutation_p.E294*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	294	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; 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 helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|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|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	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|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|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E294*(35)|p.E294fs*51(14)|p.K291fs*48(8)|p.0?(7)|p.E294E(4)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.E294G(2)|p.E294D(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)|p.E294V(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|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)	22245		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)		TGGTGAGGCTCCCCTTTCTTG	0.567		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	57					1.11e-12	1.27e-12	1	0
CDK5R1	8851	broad.mit.edu	37	17	30815310	30815310	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:30815310C>T	uc002hhn.2	+	2	893	c.672C>T	c.(670-672)GCC>GCT	p.A224A	CDK5R1_uc010wca.1_Silent_p.A224A|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	224					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGCTCCAGGCCGTCCTGCTGA	0.592		NA											36	209					0	0	0	0
TBKBP1	9755	broad.mit.edu	37	17	45777021	45777021	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:45777021C>T	uc002ilu.2	+	6	1679	c.830C>T	c.(829-831)TCG>TTG	p.S277L		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	277					innate immune response						0						TCCAACCAGTCGGAGCGAGAC	0.572		NA									OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	197					0	0	0	0
INTS2	57508	broad.mit.edu	37	17	59946709	59946709	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:59946709G>A	uc002izn.2	-	22	3163	c.3087C>T	c.(3085-3087)GTC>GTT	p.V1029V	INTS2_uc002izm.2_Silent_p.V1021V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1029					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						GAATACCTGCGACCGTCAGAG	0.333		NA											7	19					0	0	0	0
AXIN2	8313	broad.mit.edu	37	17	63554134	63554134	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:63554134C>T	uc002jfi.2	-	2	894	c.605G>A	c.(604-606)AGT>AAT	p.S202N	AXIN2_uc010den.1_Missense_Mutation_p.S202N|AXIN2_uc002jfh.2_Missense_Mutation_p.S202N|AXIN2_uc002jfj.1_Missense_Mutation_p.S202N	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	202					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						TTCTCCCCCACTCCTCACATA	0.488		NA							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				44	58					0	0	0	0
LAMA1	284217	broad.mit.edu	37	18	6973160	6973160	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr18:6973160G>T	uc002knm.2	-	47	6764	c.6670C>A	c.(6670-6672)CAA>AAA	p.Q2224K	LAMA1_uc010wzj.1_Missense_Mutation_p.Q1700K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2224	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGACTTTTGATTTGAGCTC	0.378		NA											40	73					2.64e-12	3.03e-12	1	0
MUC16	94025	broad.mit.edu	37	19	9064691	9064691	+	Silent	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:9064691T>A	uc002mkp.2	-	3	22959	c.22755A>T	c.(22753-22755)ACA>ACT	p.T7585T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7587	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGACATGGATGTTCTGCTAA	0.488		NA											16	89					0	0	0	0
KEAP1	9817	broad.mit.edu	37	19	10602732	10602732	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:10602732C>T	uc002moq.1	-	3	1002	c.846G>A	c.(844-846)CAG>CAA	p.Q282Q	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Silent_p.Q282Q	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	282	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCAGCTGCATCTGCAGGAAGT	0.617		NA											12	72					0	0	0	0
ZNF527	84503	broad.mit.edu	37	19	37880352	37880352	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:37880352A>G	uc010efk.1	+	5	1512	c.1401A>G	c.(1399-1401)GAA>GAG	p.E467E	ZNF527_uc002ogf.3_Silent_p.E435E|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACCGGAGAAAAGCCCTATG	0.413		NA											5	64					0	0	0	0
XPO1	7514	broad.mit.edu	37	2	61719223	61719223	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:61719223C>T	uc002sbj.2	-	16	2562	c.1834G>A	c.(1834-1836)GAT>AAT	p.D612N	XPO1_uc010fcl.2_Missense_Mutation_p.D608N|XPO1_uc010ypn.1_Missense_Mutation_p.D608N|XPO1_uc002sbk.2_Missense_Mutation_p.D173N|XPO1_uc002sbh.2_Missense_Mutation_p.D259N	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	612	HEAT 6.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAAATTTCATCAATAAATGGC	0.363		NA											14	87					0	0	0	0
ADD2	119	broad.mit.edu	37	2	70890768	70890768	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:70890768G>A	uc002sgz.2	-	16	2435	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.T351M|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	657					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TTCCTCTGCCGTCTGCTCCTC	0.572		NA											15	154					0	0	0	0
REV1	51455	broad.mit.edu	37	2	100022563	100022563	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:100022563G>A	uc002tad.2	-	17	2832	c.2620C>T	c.(2620-2622)CGG>TGG	p.R874W	REV1_uc002tac.2_Missense_Mutation_p.R873W	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	874					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						ACAGCAGCCCGAAATACTACA	0.398		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					4	26					0	0	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899886	130899886	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:130899886C>T	uc002tqm.1	-	3	426	c.364G>A	c.(364-366)GGA>AGA	p.G122R	CCDC74B_uc010yzw.1_Missense_Mutation_p.G224R|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	122											0	Colorectal(110;0.1)					ACCCACACTCCGTTGATGCAG	0.652		NA											6	82					0	0	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288220	132288220	+	Missense_Mutation	SNP	G	G	A	rs148324548		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:132288220G>A	uc002tta.2	+	3	416	c.364G>A	c.(364-366)GGA>AGA	p.G122R	CCDC74A_uc002ttb.2_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	122										skin(1)	1						CTGCATCAACGGAGTGTGGGT	0.657		NA											6	64					0	0	0	0
MBD5	55777	broad.mit.edu	37	2	149243425	149243425	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:149243425A>C	uc002twm.3	+	11	3948	c.2960A>C	c.(2959-2961)CAG>CCG	p.Q987P	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.Q987P|MBD5_uc002two.2_Missense_Mutation_p.Q245P|MBD5_uc002twp.2_Missense_Mutation_p.Q37P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	987						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACTTCTCCAGGGGTACCAG	0.443		NA											9	101					0	0	0	0
TANC1	85461	broad.mit.edu	37	2	160050872	160050872	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:160050872A>T	uc002uag.2	+	17	3121	c.2847A>T	c.(2845-2847)GAA>GAT	p.E949D	TANC1_uc010zcm.1_Missense_Mutation_p.E941D|TANC1_uc010fom.1_Missense_Mutation_p.E755D	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	949	ANK 2.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GCCACGAGGAAGTTGTCACTC	0.557		NA											27	83					0	0	0	0
HOXD13	3239	broad.mit.edu	37	2	176958146	176958146	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:176958146C>T	uc002ukf.1	+	1	615	c.528C>T	c.(526-528)AGC>AGT	p.S176S		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	176					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGGCGAGCAGCAGCGTACCGG	0.622		NA	T	NUP98	AML*								4	85					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179497431	179497431	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:179497431C>A	uc010zfg.1	-	184	35822	c.35598G>T	c.(35596-35598)GAG>GAT	p.E11866D	TTN_uc010zfh.1_Missense_Mutation_p.E5561D|TTN_uc010zfi.1_Missense_Mutation_p.E5494D|TTN_uc010zfj.1_Missense_Mutation_p.E5369D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12793							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTTTGGGCTCCCTGGATA	0.418		NA											29	211					3.65e-15	4.23e-15	1	0
INPP5D	3635	broad.mit.edu	37	2	234078797	234078797	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:234078797A>G	uc010zmo.1	+	14	1931	c.1778A>G	c.(1777-1779)GAT>GGT	p.D593G	INPP5D_uc010zmp.1_Missense_Mutation_p.D592G	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	593					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TACCGTGTGGATCTGCCTACC	0.522		NA											8	36					0	0	0	0
COL6A3	1293	broad.mit.edu	37	2	238253407	238253407	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:238253407G>A	uc002vwl.2	-	36	7539	c.7254C>T	c.(7252-7254)TTC>TTT	p.F2418F	COL6A3_uc002vwo.2_Silent_p.F2212F|COL6A3_uc010znj.1_Silent_p.F1811F|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.F239F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2418	VWFA 11.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATCCGGCCGAAAGTGTCTT	0.567		NA											17	136					0	0	0	0
OXT	5020	broad.mit.edu	37	20	3052920	3052920	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:3052920C>T	uc002wht.1	+	2	354	c.318C>T	c.(316-318)AGC>AGT	p.S106S		NM_000915	NP_000906	P01178	NEU1_HUMAN	oxytocin-neurophysin I preproprotein	106					signal transduction		neurohypophyseal hormone activity				0					Oxytocin(DB00107)	TCTGCTGCAGCCCGGGTGAGC	0.751		NA											3	26					0	0	0	0
C20orf26	26074	broad.mit.edu	37	20	20177407	20177407	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:20177407C>T	uc002wru.2	+	16	1860	c.1784C>T	c.(1783-1785)TCC>TTC	p.S595F	C20orf26_uc010zse.1_Missense_Mutation_p.S575F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	595										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TACCCAAAATCCAGAGAAGGC	0.468		NA											9	91					0	0	0	0
THAP7	80764	broad.mit.edu	37	22	21355011	21355011	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:21355011C>T	uc002ztr.1	-	4	332	c.302G>A	c.(301-303)CGG>CAG	p.R101Q	THAP7_uc002zts.1_Missense_Mutation_p.R101Q|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	THAP domain containing 7 isoform 2	101					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding				0	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTTGGTTGTCCGGCGCAACTT	0.572		NA											5	255					0	0	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869403	22869403	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:22869403C>G	uc002zwe.2	-	2	805	c.552G>C	c.(550-552)AGG>AGC	p.R184S	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGATTCCATCCCTGAGTTTAA	0.448		NA											19	165					0	0	0	0
HPS4	89781	broad.mit.edu	37	22	26849287	26849287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:26849287G>A	uc003acl.2	-	14	2698	c.2039C>T	c.(2038-2040)TCC>TTC	p.S680F	HPS4_uc003aci.2_Missense_Mutation_p.S675F|HPS4_uc003acj.2_Missense_Mutation_p.S544F|HPS4_uc003ack.2_Missense_Mutation_p.S471F|HPS4_uc003acn.2_Missense_Mutation_p.S526F|HPS4_uc003ach.2_Missense_Mutation_p.S415F	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	680					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						TGGGAAGCCGGAGCTCCGTGC	0.582		NA							Hermansky-Pudlak_syndrome				7	268					0	0	0	0
AP1B1	162	broad.mit.edu	37	22	29730294	29730294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:29730294G>A	uc003afj.2	-	17	2453	c.2269C>T	c.(2269-2271)CAG>TAG	p.Q757*	AP1B1_uc003afi.2_Nonsense_Mutation_p.Q750*|AP1B1_uc003afk.2_Nonsense_Mutation_p.Q750*|AP1B1_uc003afl.2_Nonsense_Mutation_p.Q730*|AP1B1_uc003afh.2_5'Flank|AP1B1_uc011ako.1_Nonsense_Mutation_p.Q310*|SNORD125_uc010gvn.1_5'Flank	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	757					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GTCATGACCTGCAAGGCCTTG	0.607		NA											4	130					0	0	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547694	9547694	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:9547694C>T	uc003bry.2	-	3	886	c.600G>A	c.(598-600)CGG>CGA	p.R200R		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	200						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					GGTCTGTTTGCCGGTTGCCCA	0.657		NA											4	160					0	0	0	0
PARP3	10039	broad.mit.edu	37	3	51979165	51979165	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:51979165G>A	uc003dby.2	+	6	1157	c.786G>A	c.(784-786)CCG>CCA	p.P262P	PARP3_uc003dbz.2_Silent_p.P269P	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	262	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTCATCCCGCACAACTTCG	0.637		NA											4	126					0	0	0	0
PTPRG	5793	broad.mit.edu	37	3	62261572	62261572	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:62261572T>C	uc003dlb.2	+	24	4209	c.3490T>C	c.(3490-3492)TAT>CAT	p.Y1164H	PTPRG_uc003dlc.2_Missense_Mutation_p.Y1135H|PTPRG_uc011bfi.1_Missense_Mutation_p.Y410H|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1164	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TAATGCAAAATATGTGGAATG	0.328		NA											12	32					0	0	0	0
PARP15	165631	broad.mit.edu	37	3	122354765	122354765	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:122354765C>T	uc003efm.2	+	12	1921	c.1855C>T	c.(1855-1857)CGA>TGA	p.R619*	PARP15_uc003efn.2_Nonsense_Mutation_p.R424*|PARP15_uc003efo.1_Nonsense_Mutation_p.R366*|PARP15_uc003efp.1_Nonsense_Mutation_p.R385*|PARP15_uc011bjt.1_Nonsense_Mutation_p.R316*	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	597	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		GTACGTTGTGCGAGTACTTAC	0.478		NA											4	146					0	0	0	0
ZIC4	84107	broad.mit.edu	37	3	147108803	147108803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:147108803C>T	uc003ewd.1	-	4	1192	c.919G>A	c.(919-921)GTG>ATG	p.V307M	ZIC4_uc003ewc.1_Missense_Mutation_p.V237M|ZIC4_uc011bno.1_Missense_Mutation_p.V357M	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	307						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GAGGGCGACACGAGGGCAGAC	0.687		NA											8	41					0	0	0	0
BBS12	166379	broad.mit.edu	37	4	123664753	123664753	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:123664753T>A	uc003ieu.2	+	2	1899	c.1706T>A	c.(1705-1707)CTG>CAG	p.L569Q		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	569					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						TCAGGGTGGCTGCATAATACT	0.433		NA							Bardet-Biedl_syndrome				7	92					0	0	0	0
NEIL3	55247	broad.mit.edu	37	4	178272610	178272610	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:178272610A>T	uc003iut.2	+	7	1063	c.946A>T	c.(946-948)AAG>TAG	p.K316*	NEIL3_uc010irs.2_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	316					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CGTGGCTCGGAAGTCGGAAGA	0.423		NA						BER_DNA_glycosylases					18	153					0	0	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381991	41381991	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:41381991G>T	uc003jmm.1	-	2	851	c.749C>A	c.(748-750)ACC>AAC	p.T250N		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	250					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						AGCTTTGGGGGTCAGCACCAC	0.433		NA											14	110					4.37e-10	4.96e-10	1	0
SKP1	6500	broad.mit.edu	37	5	133502896	133502896	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:133502896G>A	uc003kzc.3	-	3	315	c.136C>T	c.(136-138)CCT>TCT	p.P46S	SKP1_uc003kzd.3_Missense_Mutation_p.P46S|SKP1_uc010jdv.2_Missense_Mutation_p.P46S	NM_170679	NP_733779	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1 isoform b	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGGTAGAGGAACTGGGTCA	0.313		NA											27	75					0	0	0	0
LECT2	3950	broad.mit.edu	37	5	135288629	135288629	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:135288629C>T	uc003lbe.1	-	2	275	c.74G>A	c.(73-75)TGT>TAT	p.C25Y		NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	25					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517		NA											23	133					0	0	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188628	140188628	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:140188628G>A	uc003lhi.2	+	1	1957	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R619H|PCDHA4_uc011daa.1_Missense_Mutation_p.R619H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGCGCGCATCCCGTTC	0.672		NA											4	106					0	0	0	0
RBM27	54439	broad.mit.edu	37	5	145641354	145641354	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:145641354C>T	uc003lnz.3	+	13	2341	c.2175C>T	c.(2173-2175)CAC>CAT	p.H725H	RBM27_uc003lny.2_Silent_p.H670H	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	725					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACAGTGCACGGAGGTATCC	0.478		NA											21	53					0	0	0	0
GABRB2	2561	broad.mit.edu	37	5	160763740	160763740	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:160763740C>T	uc003lys.1	-	7	796	c.578G>A	c.(577-579)CGT>CAT	p.R193H	GABRB2_uc011deh.1_Missense_Mutation_p.R32H|GABRB2_uc003lyr.1_Missense_Mutation_p.R193H|GABRB2_uc003lyt.1_Missense_Mutation_p.R193H|GABRB2_uc010jiu.1_Missense_Mutation_p.R130H	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	193	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCATCGCCACGCCAGTAAAA	0.279		NA											15	82					0	0	0	0
ZNF184	7738	broad.mit.edu	37	6	27419915	27419915	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:27419915T>C	uc003njj.2	-	5	2234	c.1423A>G	c.(1423-1425)AAA>GAA	p.K475E	ZNF184_uc010jqv.2_Missense_Mutation_p.K475E|ZNF184_uc003nji.2_Missense_Mutation_p.K475E	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	475	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCATTGCATTTGTAAGGTTTT	0.418		NA											5	80					0	0	0	0
OR12D3	81797	broad.mit.edu	37	6	29342553	29342553	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:29342553T>G	uc003nme.2	-	1	516	c.512A>C	c.(511-513)AAA>ACA	p.K171T		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3						GTGATTGAGTTTCTGAGAGCC	0.463		NA											11	61					0	0	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86328627	86328627	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:86328627C>T	uc003pla.2	-	10	1730	c.1189G>A	c.(1189-1191)GAG>AAG	p.E397K	SYNCRIP_uc003pku.2_Missense_Mutation_p.E397K|SYNCRIP_uc003pkw.2_Missense_Mutation_p.E362K|SYNCRIP_uc003pky.2_Missense_Mutation_p.E299K|SYNCRIP_uc003pkv.2_Missense_Mutation_p.E397K|SYNCRIP_uc003pkx.2_Missense_Mutation_p.E245K|SYNCRIP_uc003pkz.2_Missense_Mutation_p.E362K	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	397	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTTTCTCCCTCCAAGTCTTTG	0.318		NA											4	51					0	0	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130586	117130586	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:117130586T>G	uc003pxj.1	-	2	411	c.389A>C	c.(388-390)AAG>ACG	p.K130T	GPRC6A_uc003pxk.1_Missense_Mutation_p.K130T|GPRC6A_uc003pxl.1_Missense_Mutation_p.K130T	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	130	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGTCACACTTAAACTCCAC	0.423		NA											17	81					0	0	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138200423	138200423	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:138200423A>G	uc003qhr.2	+	7	1907	c.1841A>G	c.(1840-1842)TAT>TGT	p.Y614C	TNFAIP3_uc003qhs.2_Missense_Mutation_p.Y614C	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	614	Interaction with NAF1 (By similarity).|A20-type 4.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGCTGCGTGTATTTTGGGACT	0.542		NA	D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								15	95					0	0	0	0
RADIL	55698	broad.mit.edu	37	7	4856927	4856927	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:4856927C>T	uc003snj.1	-	7	1844	c.1671G>A	c.(1669-1671)GCG>GCA	p.A557A	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.A62A|RADIL_uc011jwc.1_Silent_p.A317A|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	557	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCCAGCACCGCCATGGCCT	0.642		NA											21	44					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11630169	11630169	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:11630169C>T	uc003ssf.3	-	4	1623	c.1371G>A	c.(1369-1371)GGG>GGA	p.G457G		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	457	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGATGCCCCCTCCACAGA	0.552		NA								HNSCC(18;0.044)			10	48					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55227956	55227956	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:55227956A>G	uc003tqk.2	+	12	1669	c.1423A>G	c.(1423-1425)ATA>GTA	p.I475V	EGFR_uc003tqi.2_Missense_Mutation_p.I475V|EGFR_uc003tqj.2_Missense_Mutation_p.I475V|EGFR_uc010kzg.1_Missense_Mutation_p.I430V|EGFR_uc011kco.1_Missense_Mutation_p.I422V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	475	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCAAATACAATAAACTGGAA	0.393		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			21	46					0	0	0	0
C7orf23	79161	broad.mit.edu	37	7	86826067	86826067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:86826067C>T	uc003uio.2	-	4	454	c.242G>A	c.(241-243)TGG>TAG	p.W81*		NM_024315	NP_077291	Q9BU79	CG023_HUMAN	chromosome 7 open reading frame 23	81	Helical; (Potential).					integral to membrane					0	Esophageal squamous(14;0.0058)|all_lung(186;0.191)|Lung NSC(181;0.192)					TTGTCGATACCAGTAGATCTA	0.264		NA								HNSCC(41;0.11)			13	47					0	0	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520174	113520174	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:113520174G>T	uc010ljy.1	-	4	1004	c.973C>A	c.(973-975)CAA>AAA	p.Q325K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	325					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATTAAGTGTTGATTTATCTTA	0.299		NA											9	78					0.000274275	0.000290766	1	0
GRM8	2918	broad.mit.edu	37	7	126882877	126882877	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:126882877C>A	uc003vlr.2	-	1	693	c.382G>T	c.(382-384)GCT>TCT	p.A128S	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A128S|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	128	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACATCCGAAGCATCTTTCTCT	0.502		NA								HNSCC(24;0.065)			9	81					1.13e-05	1.25e-05	1	0
EXOC4	60412	broad.mit.edu	37	7	133602486	133602486	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:133602486C>G	uc003vrk.2	+	13	2057	c.2022C>G	c.(2020-2022)TTC>TTG	p.F674L	EXOC4_uc011kpo.1_Missense_Mutation_p.F573L|EXOC4_uc003vrl.2_Missense_Mutation_p.F284L|EXOC4_uc011kpp.1_Missense_Mutation_p.F206L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	674					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				AAGAAGATTTCATAAGGTAAA	0.358		NA											5	60					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr9:139412381G>A	uc004chz.2	-	8	1264	c.1264C>T	c.(1264-1266)CCC>TCC	p.P422S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	422	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			17	35					0	0	0	0
USP9X	8239	broad.mit.edu	37	X	41007737	41007737	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:41007737G>T	uc004dfb.2	+	12	2168	c.1535G>T	c.(1534-1536)TGG>TTG	p.W512L	USP9X_uc004dfc.2_Missense_Mutation_p.W512L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	512					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AACCTTCTGTGGAATCTGGCT	0.448		NA											20	140					1.96e-10	2.24e-10	1	0
ATRX	546	broad.mit.edu	37	X	76872192	76872192	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:76872192C>G	uc004ecp.3	-	22	5687	c.5455G>C	c.(5455-5457)GAT>CAT	p.D1819H	ATRX_uc004ecq.3_Missense_Mutation_p.D1781H|ATRX_uc004eco.3_Missense_Mutation_p.D1604H	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1819					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GCTGTATAATCTTTCCTCTGT	0.303		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						26	108					0	0	0	0
CHM	1121	broad.mit.edu	37	X	85119736	85119736	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:85119736A>T	uc004eet.2	-	15	1891	c.1861T>A	c.(1861-1863)TTA>ATA	p.L621I	CHM_uc011mqz.1_Missense_Mutation_p.L473I	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	621					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				TCTGGCTGTAAACTGTCTCCA	0.478		NA											8	34					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132915	91132915	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:91132915G>C	uc004efk.1	+	2	2521	c.1676G>C	c.(1675-1677)AGC>ACC	p.S559T	PCDH11X_uc004efl.1_Missense_Mutation_p.S559T|PCDH11X_uc004efo.1_Missense_Mutation_p.S559T|PCDH11X_uc010nmv.1_Missense_Mutation_p.S559T|PCDH11X_uc004efm.1_Missense_Mutation_p.S559T|PCDH11X_uc004efn.1_Missense_Mutation_p.S559T|PCDH11X_uc004efh.1_Missense_Mutation_p.S559T|PCDH11X_uc004efj.1_Missense_Mutation_p.S559T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	559	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GTCTTTGTAAGCATTATTGAT	0.373		NA											33	165					0	0	0	0
SRPX2	27286	broad.mit.edu	37	X	99917202	99917202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:99917202C>T	uc004egb.2	+	4	673	c.193C>T	c.(193-195)CAG>TAG	p.Q65*		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	65					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						ATTAAATATCCAGGATGGAGA	0.398		NA											25	101					0	0	0	0
AMOT	154796	broad.mit.edu	37	X	112058641	112058641	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:112058641C>T	uc004epr.2	-	2	1337	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	AMOT_uc004eps.2_Missense_Mutation_p.R37Q|AMOT_uc004ept.1_Missense_Mutation_p.R446Q	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	446	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CCTCAAGTTCCGGTTCTCGTC	0.498		NA											75	316					0	0	0	0
USP26	83844	broad.mit.edu	37	X	132159533	132159533	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:132159533C>A	uc010nrm.1	-	6	3186	c.2716G>T	c.(2716-2718)GTA>TTA	p.V906L	USP26_uc011mvf.1_Missense_Mutation_p.V906L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	906					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GTCTCCTCTACCTCCTTGCTA	0.448		NA											18	99					1.68e-08	1.89e-08	1	0
SLC9A6	10479	broad.mit.edu	37	X	135098865	135098865	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:135098865T>A	uc004ezj.2	+	10	1278	c.1202T>A	c.(1201-1203)CTG>CAG	p.L401Q	SLC9A6_uc004ezk.2_Missense_Mutation_p.L433Q	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	401	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGACACTGTTCACCTTC	0.333		NA											8	119					0	0	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995932	140995932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:140995932G>C	uc004fbt.2	+	4	3028	c.2742G>C	c.(2740-2742)GAG>GAC	p.E914D	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	914	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGGACGAGTTGGCGCGGT	0.493		NA								HNSCC(15;0.026)			30	321					0	0	0	0
L1CAM	3897	broad.mit.edu	37	X	153130403	153130403	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:153130403G>A	uc004fjb.2	-	22	3027	c.2919C>T	c.(2917-2919)CCC>CCT	p.P973P	L1CAM_uc004fjc.2_Silent_p.P973P|L1CAM_uc010nuo.2_Silent_p.P968P	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	973	Extracellular (Potential).|Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGAAGTTCGGGGTCCCGAA	0.642		NA											44	281					0	0	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698457	153698457	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:153698457C>T	uc004flm.2	+	29	5106	c.4933C>T	c.(4933-4935)CGT>TGT	p.R1645C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1645	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGAGGGGGACCGTGGCAGCAA	0.627		NA											21	82					0	0	0	0
C10orf71	118461	broad.mit.edu	37	10	50534969	50534970	+	Frame_Shift_Ins	INS	-	-	C	rs66701434		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:50534969_50534970insC	uc010qgp.1	+	4	2407_2408	c.2068_2069insC	c.(2068-2070)AACfs	p.N690fs		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	690											0						CAAAACAAGCAacacacacaca	0.406		NA											2	4	---	---	---	---	NA	NA	NA	NA
RBM26	64062	broad.mit.edu	37	13	79943084	79943091	+	Frame_Shift_Del	DEL	CTGTTCTA	CTGTTCTA	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:79943084_79943091delCTGTTCTA	uc001vkz.2	-	6	683_690	c.669_676delTAGAACAG	c.(667-678)GATAGAACAGATfs	p.D223fs	RBM26_uc001vky.2_Frame_Shift_Del_p.D223fs|RBM26_uc001vla.2_Frame_Shift_Del_p.D223fs|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	223_226					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCTAATGGATCTGTTCTATCCAGGTCAT	0.351		NA											8	158	---	---	---	---	NA	NA	NA	NA
ZSCAN29	146050	broad.mit.edu	37	15	43658711	43658712	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr15:43658711_43658712insT	uc001zrk.1	-	3	965_966	c.818_819insA	c.(817-819)CATfs	p.H273fs	ZSCAN29_uc001zrj.1_Frame_Shift_Ins_p.H153fs|ZSCAN29_uc010bdf.1_Frame_Shift_Ins_p.H272fs|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Frame_Shift_Ins_p.H272fs	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	273					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCTGTTCCTATGGCAGTTTCT	0.545		NA											21	123	---	---	---	---	NA	NA	NA	NA
ZBTB38	253461	broad.mit.edu	37	3	141164513	141164514	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:141164513_141164514delCA	uc003etw.2	+	8	4265_4266	c.3283_3284delCA	c.(3283-3285)CACfs	p.H1095fs	ZBTB38_uc010hun.2_Frame_Shift_Del_p.H1092fs|ZBTB38_uc010huo.2_Frame_Shift_Del_p.H1095fs|ZBTB38_uc003ety.2_Frame_Shift_Del_p.H1095fs|ZBTB38_uc010hup.2_Frame_Shift_Del_p.H1096fs	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1095	C2H2-type 9.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AAAGCGTTACCACTGTCAGTTC	0.455		NA											30	87	---	---	---	---	NA	NA	NA	NA
ZFAT	57623	broad.mit.edu	37	8	135649949	135649949	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr8:135649949delA	uc003yup.2	-	3	378	c.203delT	c.(202-204)TTGfs	p.L68fs	ZFAT_uc003yun.2_Frame_Shift_Del_p.L56fs|ZFAT_uc003yuo.2_Frame_Shift_Del_p.L56fs|ZFAT_uc010meh.2_Frame_Shift_Del_p.L56fs|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Frame_Shift_Del_p.L56fs|ZFAT_uc010mej.2_Frame_Shift_Del_p.L68fs|ZFAT_uc003yur.2_Frame_Shift_Del_p.L56fs	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCATGACCAAAAACTCTAC	0.517		NA											7	171	---	---	---	---	NA	NA	NA	NA