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
AJAP1	55966	broad.mit.edu	37	1	4829977	4829977	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:4829977C>T	uc001alm.1	+	3	1275	c.894C>T	c.(892-894)ATC>ATT	p.I298I	AJAP1_uc001aln.2_Silent_p.I298I	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	298	Helical; Signal-anchor for type III membrane protein; (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGCTCTCATCACAACTCTTG	0.537		NA											40	149					0	0	0	0
EXTL1	2134	broad.mit.edu	37	1	26360245	26360245	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:26360245C>T	uc001blf.2	+	9	2444	c.1577C>T	c.(1576-1578)ACG>ATG	p.T526M		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	526	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCCTGACGTCGAGCCAT	0.582		NA											36	94					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39908232	39908232	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:39908232A>T	uc010oiu.1	+	42	14557	c.14426A>T	c.(14425-14427)AAG>ATG	p.K4809M	MACF1_uc010ois.1_Missense_Mutation_p.K4307M	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCTCGCAAAGCACCATGTA	0.403		NA											24	39					0	0	0	0
CRNN	49860	broad.mit.edu	37	1	152383314	152383314	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:152383314C>A	uc001ezx.2	-	3	318	c.244G>T	c.(244-246)GCC>TCC	p.A82S		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	82	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCCTGGGCAACTTTAAAC	0.567		NA											22	128					0.000175454	0.000205004	1	0
CD48	962	broad.mit.edu	37	1	160650998	160650998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:160650998T>C	uc001fwn.2	-	3	678	c.646A>G	c.(646-648)ACC>GCC	p.T216A	CD48_uc001fwo.1_Missense_Mutation_p.T216A	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	216					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCCAGGGTACAGGGTGGA	0.522		NA											13	51					0	0	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738863	176738863	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:176738863G>A	uc001gkz.2	+	16	5608	c.4444G>A	c.(4444-4446)GGA>AGA	p.G1482R	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1482	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CTGCTCAGAGGGAACCAAATT	0.522		NA											15	139					0	0	0	0
PIGR	5284	broad.mit.edu	37	1	207109003	207109003	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:207109003C>T	uc001hez.2	-	5	1390	c.1206G>A	c.(1204-1206)GAG>GAA	p.E402E	PIGR_uc009xbz.2_Silent_p.E402E	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	402	Ig-like V-type 4.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TAACCCACCCCTCGCTGTCCA	0.627		NA									OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					0	0	0	0
YOD1	55432	broad.mit.edu	37	1	207222672	207222672	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:207222672T>C	uc001hfe.1	-	2	787	c.740A>G	c.(739-741)GAT>GGT	p.D247G	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.D203G	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	247	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)					CCCAAAACGATCAATTCTTAC	0.403		NA											47	119					0	0	0	0
FH	2271	broad.mit.edu	37	1	241680611	241680611	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:241680611G>C	uc001hyx.2	-	2	170	c.138C>G	c.(136-138)AGC>AGG	p.S46R		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	46					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGGAATTTTGGCTTGCCTAAA	0.378		NA	Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				11	36					0	0	0	0
OR2T34	127068	broad.mit.edu	37	1	248737781	248737781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:248737781C>T	uc001iep.1	-	1	278	c.278G>A	c.(277-279)GGA>GAA	p.G93E		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATCATCTCCAGTGACCTG	0.562		NA											17	57					0	0	0	0
PRLHR	2834	broad.mit.edu	37	10	120353933	120353933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr10:120353933C>A	uc001ldp.1	-	2	963	c.824G>T	c.(823-825)CGC>CTC	p.R275L		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	275	Cytoplasmic (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCAGAAGGTGCGCCGGCGCCG	0.687		NA											7	25					2.01e-06	2.48e-06	1	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	A	rs104894229		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:534289C>A	uc001lpv.2	-	2	222	c.34G>T	c.(34-36)GGC>TGC	p.G12C	HRAS_uc010qvw.1_Missense_Mutation_p.G12C|HRAS_uc010qvx.1_Missense_Mutation_p.G12C|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	12	GTP.		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(250)|p.G12S(54)|p.G12D(39)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			7	44					2.01e-06	2.48e-06	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651181	1651181	+	Silent	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:1651181C>A	uc001lty.2	+	1	149	c.111C>A	c.(109-111)GGC>GGA	p.G37G		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	37						keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtgggggctgtggctccg	0.08		NA											21	87					1.64e-13	2.16e-13	1	0
MRVI1	10335	broad.mit.edu	37	11	10650331	10650331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:10650331G>A	uc010rcc.1	-	6	1005	c.619C>T	c.(619-621)CGG>TGG	p.R207W	MRVI1_uc001miw.2_Missense_Mutation_p.R198W|MRVI1_uc010rcb.1_Missense_Mutation_p.R198W|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.R116W|MRVI1_uc009ygc.1_Missense_Mutation_p.R116W|MRVI1_uc010rcd.1_Missense_Mutation_p.R207W|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	198					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAGTTGCTCCGAGAGGATGTA	0.597		NA											4	2					0	0	0	0
CAT	847	broad.mit.edu	37	11	34485744	34485744	+	Missense_Mutation	SNP	C	C	T	rs139875365	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:34485744C>T	uc001mvm.2	+	10	1371	c.1288C>T	c.(1288-1290)CGG>TGG	p.R430W	CAT_uc009ykc.1_RNA|CAT_uc001mvn.2_Missense_Mutation_p.R39W	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	430					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGGAGAAGTGCGGAGATTCAA	0.463		NA											25	77					0	0	0	0
ALG10	84920	broad.mit.edu	37	12	34179455	34179455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:34179455G>C	uc001rlm.2	+	3	1346	c.1027G>C	c.(1027-1029)GCT>CCT	p.A343P		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	343	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATTCACTTATGCTCATAAATA	0.303		NA											22	87					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49415846	49415846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:49415846G>A	uc001rta.3	-	53	16501	c.16501C>T	c.(16501-16503)CGA>TGA	p.R5501*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5501	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R5231*(1)		kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTGGGGATTCGCCGGCTGGAG	0.512		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			45	127					0	0	0	0
UBC	7316	broad.mit.edu	37	12	125398267	125398267	+	Silent	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:125398267A>C	uc001ugs.3	-	2	499	c.51T>G	c.(49-51)GTT>GTG	p.V17V	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V17V|UBC_uc001ugt.2_Silent_p.V17V|UBC_uc001ugv.2_Silent_p.V17V|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_RNA	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	17	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CACTGGGCTCAACCTCGAGGG	0.473		NA											4	216					0	0	0	0
KLHL1	57626	broad.mit.edu	37	13	70549904	70549904	+	Silent	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr13:70549904A>C	uc001vip.2	-	2	1322	c.528T>G	c.(526-528)CCT>CCG	p.P176P	KLHL1_uc010thm.1_Intron	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	176					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AATCACTTTGAGGTGTCATTG	0.338		NA											14	42					0	0	0	0
RNF113B	140432	broad.mit.edu	37	13	98828825	98828825	+	Silent	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr13:98828825G>A	uc001vnk.2	-	1	697	c.666C>T	c.(664-666)CTC>CTT	p.L222L	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	222							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCTCCCACCCGAGCTTGTAAT	0.532		NA											32	93					0	0	0	0
CHD8	57680	broad.mit.edu	37	14	21863099	21863099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr14:21863099C>A	uc001was.1	-	30	4619	c.4525G>T	c.(4525-4527)GAA>TAA	p.E1509*	CHD8_uc001war.1_Nonsense_Mutation_p.E1405*|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1788					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGTGCAATTTCTTTCAGCTTG	0.493		NA											24	62					5.62e-17	7.51e-17	1	0
PSMC6	5706	broad.mit.edu	37	14	53175510	53175510	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr14:53175510A>T	uc010tqx.1	+	4	276	c.276A>T	c.(274-276)AGA>AGT	p.R92S	PSMC6_uc010tqv.1_Missense_Mutation_p.R92S|PSMC6_uc010tqw.1_Missense_Mutation_p.R58S	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					ATGGACCAAGATATGTTGTGG	0.219		NA											15	42					0	0	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109605	42109605	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr15:42109605C>T	uc001zok.3	+	16	2035	c.1749C>T	c.(1747-1749)CGC>CGT	p.R583R	MAPKBP1_uc001zoj.3_Silent_p.R577R|MAPKBP1_uc010bcj.2_Silent_p.R84R|MAPKBP1_uc010bci.2_Silent_p.R577R|MAPKBP1_uc010udb.1_Silent_p.R416R|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.R84R	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	583	WD 9.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGCAAGTCCGCATGATCAGCT	0.612		NA											18	52					0	0	0	0
TP53BP1	7158	broad.mit.edu	37	15	43771645	43771645	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr15:43771645C>T	uc001zrs.2	-	7	871	c.723G>A	c.(721-723)CAG>CAA	p.Q241Q	TP53BP1_uc010udp.1_Silent_p.Q241Q|TP53BP1_uc001zrq.3_Silent_p.Q246Q|TP53BP1_uc001zrr.3_Silent_p.Q246Q|TP53BP1_uc010udq.1_Silent_p.Q246Q	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	241					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTTACTGGGCTGTGCTGTCA	0.418		NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					29	61					0	0	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504019	27504019	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:27504019C>T	uc002dov.1	-	18	2932	c.2892G>A	c.(2890-2892)TCG>TCA	p.S964S	GTF3C1_uc002dou.2_Silent_p.S964S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	964						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TCTCCACCACCGAAAAAATGT	0.557		NA											32	74					0	0	0	0
FHOD1	29109	broad.mit.edu	37	16	67264614	67264614	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:67264614C>T	uc002esl.2	-	18	2860	c.2748G>A	c.(2746-2748)TTG>TTA	p.L916L	FHOD1_uc002esk.2_5'UTR|FHOD1_uc010ced.2_Silent_p.L723L	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	916	Potential.|FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CATGCTTGGCCAAGCTCCGCA	0.662		NA											41	150					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10369888	10369888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:10369888T>C	uc002gmn.2	-	3	286	c.175A>G	c.(175-177)AAG>GAG	p.K59E	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	59	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GCTGTCACCTTCCCCCCTTCC	0.463		NA											3	235					0	0	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253956	39253956	+	Silent	SNP	G	G	A	rs139720993	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:39253956G>A	uc010wfo.1	-	1	420	c.381C>T	c.(379-381)CCC>CCT	p.P127P		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4.8	127	21.|25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament					0						tgctgcagctggggcggcagc	0.104		NA											5	11					0	0	0	0
ADAM11	4185	broad.mit.edu	37	17	42855361	42855361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:42855361G>A	uc002ihh.2	+	24	2112	c.2112G>A	c.(2110-2112)TGG>TGA	p.W704*	ADAM11_uc010wjd.1_Nonsense_Mutation_p.W504*|ADAM11_uc002ihi.2_Missense_Mutation_p.G57E	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	704	EGF-like.|Extracellular (Potential).				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				AGCCAGACTGGACAGGCAAAG	0.612		NA											37	127					0	0	0	0
CA4	762	broad.mit.edu	37	17	58234830	58234830	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:58234830G>A	uc002iym.3	+	4	405	c.311G>A	c.(310-312)GGA>GAA	p.G104E	CA4_uc010wou.1_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	104					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCTGGAGGAGGACTGCCTGCC	0.587		NA											23	92					0	0	0	0
TNRC6C	57690	broad.mit.edu	37	17	76082938	76082938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:76082938C>T	uc002jud.2	+	14	4166	c.3566C>T	c.(3565-3567)GCG>GTG	p.A1189V	TNRC6C_uc002juf.2_Missense_Mutation_p.A1186V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1189	Potential.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAGGTTGCGCGCACAATC	0.592		NA											5	166					0	0	0	0
FBN3	84467	broad.mit.edu	37	19	8174522	8174522	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:8174522G>T	uc002mjf.2	-	34	4470	c.4449C>A	c.(4447-4449)GGC>GGA	p.G1483G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1483	EGF-like 23; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CACCCACGCAGCCCACTCCGC	0.582		NA											24	79					5.35e-11	6.99e-11	1	0
MAST1	22983	broad.mit.edu	37	19	12958457	12958457	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:12958457G>C	uc002mvm.2	+	6	648	c.520G>C	c.(520-522)GAG>CAG	p.E174Q	MAST1_uc002mvk.2_Missense_Mutation_p.E170Q|MAST1_uc002mvl.2_Silent_p.T147T	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	174					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CTACGACAACGAGATCGTGAT	0.652		NA									OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	54					0	0	0	0
SYMPK	8189	broad.mit.edu	37	19	46318949	46318949	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:46318949C>T	uc002pdn.2	-	27	3939	c.3694G>A	c.(3694-3696)GCA>ACA	p.A1232T	RSPH6A_uc002pdm.2_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	1232					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGCCCGCTGCCGTCTCCTGG	0.701		NA											4	13					0	0	0	0
LILRA1	11024	broad.mit.edu	37	19	55107315	55107315	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:55107315C>T	uc002qgh.1	+	6	1055	c.873C>T	c.(871-873)TAC>TAT	p.Y291Y	LILRA2_uc010yfg.1_Silent_p.Y289Y|LILRA1_uc010yfh.1_Silent_p.Y291Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	291	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		GCCGCTCCTACGGGGGCCAGT	0.662		NA											28	70					0	0	0	0
HECW2	57520	broad.mit.edu	37	2	197183966	197183966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr2:197183966C>T	uc002utm.1	-	9	1831	c.1648G>A	c.(1648-1650)GGT>AGT	p.G550S	HECW2_uc002utl.1_Missense_Mutation_p.G194S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	550					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CCGCCTTCACCTTCCTCTGGG	0.582		NA											13	41					0	0	0	0
KCNE4	23704	broad.mit.edu	37	2	223918016	223918016	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr2:223918016C>T	uc002vnl.3	+	2	622	c.468C>T	c.(466-468)AAC>AAT	p.N156N		NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related	156	Cytoplasmic (Potential).					integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGCCCCTCAACGAGAGCAGCG	0.627		NA											10	40					0	0	0	0
VPS16	64601	broad.mit.edu	37	20	2844656	2844656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:2844656A>G	uc002whe.2	+	16	1586	c.1538A>G	c.(1537-1539)GAC>GGC	p.D513G	VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.D369G|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.D199G|VPS16_uc002whi.2_5'UTR	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	513					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						AAGCTGGGGGACACGCCTGGT	0.582		NA											5	64					0	0	0	0
PHACTR3	116154	broad.mit.edu	37	20	58318189	58318189	+	Missense_Mutation	SNP	G	G	A	rs143288140		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:58318189G>A	uc002yau.2	+	2	613	c.146G>A	c.(145-147)CGT>CAT	p.R49H	PHACTR3_uc002yat.2_Missense_Mutation_p.R46H|PHACTR3_uc010zzw.1_Missense_Mutation_p.R8H|PHACTR3_uc002yav.2_Missense_Mutation_p.R8H|PHACTR3_uc002yaw.2_Missense_Mutation_p.R8H|PHACTR3_uc002yax.2_Missense_Mutation_p.R8H	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	49						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.R49H(1)		ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCCGGCGCGTCCTGAATAT	0.567		NA											24	86					0	0	0	0
SFRS15	57466	broad.mit.edu	37	21	33065610	33065610	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr21:33065610T>A	uc002ypd.2	-	12	1936	c.1510A>T	c.(1510-1512)AGT>TGT	p.S504C	SFRS15_uc002ype.2_Missense_Mutation_p.S504C|SFRS15_uc010glu.2_Missense_Mutation_p.S489C|SFRS15_uc002ypf.1_Missense_Mutation_p.S178C	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	504						nucleus	nucleotide binding|RNA binding				0						GAGTTACCACTTGCAGTTTCC	0.388		NA											20	58					0	0	0	0
ZNF860	344787	broad.mit.edu	37	3	32032156	32032156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:32032156C>T	uc011axg.1	+	2	2134	c.1585C>T	c.(1585-1587)CAT>TAT	p.H529Y		NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	529	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCACGTCATCATAGACTTCA	0.383		NA											19	41					0	0	0	0
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:97887879T>C	uc011bgu.1	+	1	336	c.336T>C	c.(334-336)TGT>TGC	p.C112C		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CCACAGAATGTTTTCTCTTGG	0.378		NA											3	143					0	0	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733334	126733334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:126733334C>T	uc003ejg.2	+	12	2553	c.2549C>T	c.(2548-2550)ACG>ATG	p.T850M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	873	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TCCCCCGAGACGGGCCCGAGG	0.706		NA											9	33					0	0	0	0
LRRC15	131578	broad.mit.edu	37	3	194080356	194080356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:194080356C>A	uc003ftu.2	-	2	1503	c.1417G>T	c.(1417-1419)GTT>TTT	p.V473F	LRRC15_uc003ftt.2_Missense_Mutation_p.V479F	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	473	LRRCT.|Extracellular (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ACGCTTGGAACAGCAACGTTG	0.542		NA											6	25					8.13e-05	9.65e-05	1	0
PDS5A	23244	broad.mit.edu	37	4	39978105	39978105	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:39978105C>T	uc003guv.3	-	2	633	c.93G>A	c.(91-93)GAG>GAA	p.E31E	PDS5A_uc010ifo.2_5'UTR|PDS5A_uc003guw.3_Silent_p.E31E	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	31					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TGTCGGTGATCTCTTTTACCC	0.567		NA									OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	107					0	0	0	0
ALPK1	80216	broad.mit.edu	37	4	113347690	113347690	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:113347690G>T	uc003iap.3	+	8	969	c.690G>T	c.(688-690)CCG>CCT	p.P230P	ALPK1_uc003ian.3_Silent_p.P230P|ALPK1_uc011cfx.1_Silent_p.P152P|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Silent_p.P58P	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	230							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCCTCAGCCGGATAAAAAGG	0.423		NA											19	64					8.1e-08	1.03e-07	1	0
FAT4	79633	broad.mit.edu	37	4	126373729	126373729	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:126373729G>T	uc003ifj.3	+	9	11558	c.11558G>T	c.(11557-11559)GGA>GTA	p.G3853V	FAT4_uc011cgp.1_Missense_Mutation_p.G2151V|FAT4_uc003ifi.1_Missense_Mutation_p.G1331V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3853	Extracellular (Potential).|EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGTCTGCCAGGATATGCGGGT	0.463		NA											11	46					7.04e-09	9.03e-09	1	0
PCDH10	57575	broad.mit.edu	37	4	134071537	134071537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:134071537G>A	uc003iha.2	+	1	1068	c.242G>A	c.(241-243)CGC>CAC	p.R81H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R81H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	81	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAATAGACCGCGAACAAATC	0.567		NA											27	90					0	0	0	0
SCOC	60592	broad.mit.edu	37	4	141300319	141300319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:141300319C>A	uc003iif.2	+	2	253	c.226C>A	c.(226-228)CCC>ACC	p.P76T	SCOC_uc003iib.2_Missense_Mutation_p.P39T|SCOC_uc011che.1_Missense_Mutation_p.P39T|SCOC_uc003iid.2_Missense_Mutation_p.P39T|SCOC_uc011chf.1_Missense_Mutation_p.P39T|SCOC_uc011chg.1_Missense_Mutation_p.P39T|SCOC_uc011chh.1_Missense_Mutation_p.P76T|SCOC_uc003iig.2_Missense_Mutation_p.P76T	NM_001153484	NP_001146956	Q9UIL1	SCOC_HUMAN	short coiled-coil protein isoform 1	76						Golgi apparatus|nucleus	protein binding				0	all_hematologic(180;0.162)					AAGTTTGTTACCCAAGATGAT	0.343		NA											23	113					5.62e-17	7.51e-17	1	0
ZNF827	152485	broad.mit.edu	37	4	146770712	146770712	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:146770712C>T	uc003ikn.2	-	6	2031	c.1983G>A	c.(1981-1983)GCG>GCA	p.A661A	ZNF827_uc003ikm.2_Silent_p.A661A|ZNF827_uc010iox.2_Silent_p.A311A	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TGTAGCTTTCCGCTGCAAGTA	0.438		NA											21	84					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187629108	187629108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:187629108G>T	uc003izf.2	-	2	2062	c.1874C>A	c.(1873-1875)TCA>TAA	p.S625*	FAT1_uc010iso.1_Nonsense_Mutation_p.S625*	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	625	Extracellular (Potential).|Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCGCTTTAATGACAATACCCC	0.408		NA								HNSCC(5;0.00058)			18	45					1.01e-13	1.33e-13	1	0
SDHA	6389	broad.mit.edu	37	5	225544	225544	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:225544A>G	uc003jao.3	+	4	438	c.323A>G	c.(322-324)AAT>AGT	p.N108S	SDHA_uc003jan.2_Missense_Mutation_p.N108S|SDHA_uc011clv.1_Missense_Mutation_p.N108S|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Missense_Mutation_p.N108S|SDHA_uc003jaq.3_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	108					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGAGGAATCAATGCTGCTCTG	0.572		NA							Familial_Paragangliomas				4	97					0	0	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263259	140263259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:140263259C>T	uc003lif.2	+	1	1406	c.1406C>T	c.(1405-1407)CCG>CTG	p.P469L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P469L|PCDHA13_uc003lid.2_Missense_Mutation_p.P469L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACAATCCGCCGGGCTGC	0.677		NA											44	121					0	0	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533761	156533761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:156533761C>T	uc003lwk.1	-	2	415	c.271G>A	c.(271-273)GGA>AGA	p.G91R	HAVCR2_uc003lwl.2_Missense_Mutation_p.G91R	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	91	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACACATCTCCTTTGCGGAAA	0.453		NA											4	133					0	0	0	0
ODZ2	57451	broad.mit.edu	37	5	167545383	167545383	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:167545383G>T	uc010jjd.2	+	10	1900	c.1900G>T	c.(1900-1902)GAC>TAC	p.D634Y	ODZ2_uc003lzq.2_Missense_Mutation_p.D513Y|ODZ2_uc003lzr.3_Missense_Mutation_p.D402Y|ODZ2_uc003lzt.3_5'UTR|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGCAGAGTGCGACGTGCCCAT	0.572		NA											49	179					3.86e-30	5.33e-30	1	0
DRD1	1812	broad.mit.edu	37	5	174869350	174869350	+	Silent	SNP	G	G	A	rs147169569		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:174869350G>A	uc003mcz.2	-	2	1698	c.753C>T	c.(751-753)GTC>GTT	p.V251V		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	251	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAGAACATTCGACAGGCTTTC	0.478		NA											26	82					0	0	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271609	26271609	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:26271609C>A	uc003nhi.2	-	1	4	c.4G>T	c.(4-6)GCC>TCC	p.A2S	uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	NM_003534	NP_003525	P68431	H31_HUMAN	H3 histone family, member H	2					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						TTGGTGCGGGCCATCTCAGAC	0.552		NA											11	44					3.86e-05	4.63e-05	1	0
KCNK5	8645	broad.mit.edu	37	6	39159505	39159505	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:39159505C>A	uc003oon.2	-	5	1025	c.661G>T	c.(661-663)GCC>TCC	p.A221S		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	221					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CGGTACAGGGCGTGGTAGTTG	0.567		NA											42	109					6.53e-18	8.83e-18	1	0
USP49	25862	broad.mit.edu	37	6	41774580	41774580	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:41774580G>A	uc003ori.2	-	4	364	c.142C>T	c.(142-144)CGC>TGC	p.R48C		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	48	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCAATATAGCGGCCGCAGGCC	0.592		NA											5	132					0	0	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796801	42796801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:42796801C>T	uc003osn.1	+	6	881	c.730C>T	c.(730-732)CAA>TAA	p.Q244*	KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q244*	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	244										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CAGCGGGCAGCAAGCCCCATC	0.448		NA											16	47					0	0	0	0
CHRM2	1129	broad.mit.edu	37	7	136699801	136699801	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr7:136699801C>T	uc003vtf.1	+	4	812	c.189C>T	c.(187-189)TTC>TTT	p.F63F	CHRM2_uc003vtg.1_Silent_p.F63F|CHRM2_uc003vtj.1_Silent_p.F63F|CHRM2_uc003vtk.1_Silent_p.F63F|CHRM2_uc003vtl.1_Silent_p.F63F|CHRM2_uc003vtm.1_Silent_p.F63F|CHRM2_uc003vti.1_Silent_p.F63F|CHRM2_uc003vto.1_Silent_p.F63F|CHRM2_uc003vtn.1_Silent_p.F63F|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	63	Helical; Name=2; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTTTTTATTCAGCTTGGCCT	0.468		NA											33	94					0	0	0	0
MCM4	4173	broad.mit.edu	37	8	48883929	48883929	+	Missense_Mutation	SNP	G	G	T	rs151044076		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:48883929G>T	uc003xqk.1	+	13	1924	c.1829G>T	c.(1828-1830)CGC>CTC	p.R610L	MCM4_uc003xql.1_Missense_Mutation_p.R610L|MCM4_uc011ldi.1_Missense_Mutation_p.R597L	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	610	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCAATGCGCGCACCTCTGTC	0.493		NA											7	32					0.000274275	0.000317131	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110503288	110503288	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:110503288T>A	uc003yne.2	+	61	10176	c.10072T>A	c.(10072-10074)TTG>ATG	p.L3358M		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3358	Extracellular (Potential).|PbH1 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACAGATGGATTGGACATAGA	0.378		NA								HNSCC(38;0.096)			26	58					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139164609	139164609	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:139164609C>A	uc003yuy.2	-	13	2280	c.2109G>T	c.(2107-2109)AGG>AGT	p.R703S	FAM135B_uc003yux.2_Missense_Mutation_p.R604S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R265S|FAM135B_uc003yvb.2_Missense_Mutation_p.R265S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	703										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCCAGAGCCCTGCTTCGGG	0.547		NA								HNSCC(54;0.14)			12	52					1.09e-07	1.38e-07	1	0
ARHGAP39	80728	broad.mit.edu	37	8	145771119	145771119	+	Missense_Mutation	SNP	C	C	T	rs141083413		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:145771119C>T	uc003zdt.1	-	7	2590	c.2035G>A	c.(2035-2037)GTC>ATC	p.V679I	ARHGAP39_uc011llk.1_Missense_Mutation_p.V679I|ARHGAP39_uc003zds.1_Missense_Mutation_p.V679I	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	679					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GTGGGGAAGACGCAGCTGGAG	0.647		NA											9	40					0	0	0	0
UBAP1	51271	broad.mit.edu	37	9	34241766	34241766	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:34241766T>C	uc003ztx.2	+	4	978	c.743T>C	c.(742-744)CTG>CCG	p.L248P	UBAP1_uc010mka.1_Missense_Mutation_p.L284P|UBAP1_uc003zty.2_Missense_Mutation_p.L248P|UBAP1_uc011loi.1_Missense_Mutation_p.L284P|UBAP1_uc011loj.1_Missense_Mutation_p.L312P|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.L248P	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	248						cytoplasm					0			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAGATGTCACTGTCTTCCAAA	0.468		NA											18	34					0	0	0	0
FGD3	89846	broad.mit.edu	37	9	95776270	95776270	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:95776270A>C	uc004asw.2	+	9	1800	c.1172A>C	c.(1171-1173)CAC>CCC	p.H391P	FGD3_uc004asx.2_Missense_Mutation_p.H391P|FGD3_uc004asz.2_Missense_Mutation_p.H391P|FGD3_uc004ata.2_Missense_Mutation_p.H194P|FGD3_uc011luc.1_5'Flank	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	391	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						CAGGACCGCCACCTCTTCCTG	0.632		NA											10	109					0	0	0	0
CRB2	286204	broad.mit.edu	37	9	126133118	126133118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:126133118G>A	uc004bnx.1	+	7	1878	c.1786G>A	c.(1786-1788)GGT>AGT	p.G596S	CRB2_uc004bnw.1_Missense_Mutation_p.G596S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	596	Extracellular (Potential).|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TGAGGATCTCGGTGAGAACGT	0.652		NA											3	68					0	0	0	0
FAM78A	286336	broad.mit.edu	37	9	134136553	134136553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:134136553C>T	uc004cak.2	-	2	848	c.508G>A	c.(508-510)GTG>ATG	p.V170M	FAM78A_uc004caj.2_Missense_Mutation_p.V167M	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	170										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CTGACGGGCACGGCCCATGTG	0.577		NA											26	70					0	0	0	0
SETX	23064	broad.mit.edu	37	9	135147149	135147149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:135147149C>T	uc004cbk.2	-	24	7330	c.7147G>A	c.(7147-7149)GAT>AAT	p.D2383N	SETX_uc004cbj.2_Missense_Mutation_p.D2002N|SETX_uc010mzt.2_Intron	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2383					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAACACAATCCTTCTGCCGA	0.368		NA											7	177					0	0	0	0
C9orf171	389799	broad.mit.edu	37	9	135447890	135447890	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:135447890A>C	uc004cbn.2	+	7	1004	c.956A>C	c.(955-957)CAC>CCC	p.H319P	C9orf171_uc004cbo.2_Missense_Mutation_p.H283P	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	319										ovary(4)|large_intestine(1)	5						AACTACACCCACCCCTAGCCC	0.597		NA											6	27					0	0	0	0
C9orf96	169436	broad.mit.edu	37	9	136253278	136253278	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:136253278C>A	uc004cdk.2	+	5	403	c.342C>A	c.(340-342)AGC>AGA	p.S114R	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	114	Protein kinase.						ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGAGCTCAGCTTCCAGGAGG	0.567		NA											20	63					5.5e-05	6.56e-05	1	0
IRAK1	3654	broad.mit.edu	37	X	153278841	153278841	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chrX:153278841A>C	uc004fjs.1	-	12	1662	c.1583T>G	c.(1582-1584)GTG>GGG	p.V528G	IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.V449G|IRAK1_uc010nur.2_Intron	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	528					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCGGGCACCCCCGCCAC	0.662		NA											6	21					0	0	0	0
WDTC1	23038	broad.mit.edu	37	1	27614251	27614252	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:27614251_27614252insAT	uc009vst.2	+	6	913_914	c.378_379insAT	c.(376-381)ACCATCfs	p.T126fs	WDTC1_uc001bno.2_Frame_Shift_Ins_p.T126fs|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	126_127	WD 2.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TAAAGGAGACCATCCACATGTT	0.564		NA											11	21	---	---	---	---	NA	NA	NA	NA
SFRS8	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:132281734_132281736delAGA	uc001uja.1	+	16	2686_2688	c.2546_2548delAGA	c.(2545-2550)GAGAAG>GAG	p.K853del	SFRS8_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	853	Poly-Lys.|Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AGTCCCCACGAGAAGAAGAAGAA	0.493		NA											7	238	---	---	---	---	NA	NA	NA	NA
SRCAP	10847	broad.mit.edu	37	16	30749849	30749850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:30749849_30749850insA	uc002dze.1	+	34	8873_8874	c.8488_8489insA	c.(8488-8490)CACfs	p.H2830fs	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.H2625fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2830	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TGCTCGCCGTCACATTGAGCTG	0.644		NA											18	84	---	---	---	---	NA	NA	NA	NA
KSR1	8844	broad.mit.edu	37	17	25936285	25936286	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:25936285_25936286delTA	uc010crg.2	+	17	2255_2256	c.1810_1811delTA	c.(1810-1812)TATfs	p.Y604fs	KSR1_uc002gzm.2_Frame_Shift_Del_p.Y383fs|KSR1_uc002gzn.2_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	739	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAACGTCTTCTATGACAACGGC	0.525		NA											38	114	---	---	---	---	NA	NA	NA	NA
NUFIP2	57532	broad.mit.edu	37	17	27613086	27613087	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:27613086_27613087delTC	uc002hdy.3	-	2	2014_2015	c.1925_1926delGA	c.(1924-1926)AGAfs	p.R642fs	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	642						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTCTCTGGTATCTCTGTTCTTT	0.426		NA											9	39	---	---	---	---	NA	NA	NA	NA
IRF2BP1	26145	broad.mit.edu	37	19	46388435	46388436	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:46388435_46388436delTC	uc002pds.1	-	1	941_942	c.597_598delGA	c.(595-600)GAGAAGfs	p.E199fs		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	199_200	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCTGCTGCTTCTCTTTCTCGA	0.644		NA											55	158	---	---	---	---	NA	NA	NA	NA
KLK4	9622	broad.mit.edu	37	19	51413946	51413946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:51413946delG	uc002pua.1	-	1	49	c.49delC	c.(49-51)CTTfs	p.L17fs	KLK4_uc002pty.1_5'Flank|KLK4_uc002ptz.1_5'Flank|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'Flank|KLK4_uc002pud.1_5'Flank	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	17					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCGACACCAAGGATGAGGTAC	0.552		NA											2	4	---	---	---	---	NA	NA	NA	NA
NINL	22981	broad.mit.edu	37	20	25460831	25460831	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:25460831delT	uc002wux.1	-	15	1957	c.1883delA	c.(1882-1884)CATfs	p.H628fs	NINL_uc010gdn.1_Frame_Shift_Del_p.H628fs|NINL_uc010gdo.1_Frame_Shift_Del_p.H411fs	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	628	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GTCTTGGTAATGCTCCTTTAC	0.532		NA											16	44	---	---	---	---	NA	NA	NA	NA
CDKL2	8999	broad.mit.edu	37	4	76539580	76539580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:76539580delT	uc003hiq.2	-	3	747	c.222delA	c.(220-222)AAAfs	p.K74fs	CDKL2_uc011cbp.1_Frame_Shift_Del_p.K74fs|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	74	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGTACCATCGTTTTTTTTTCT	0.323		NA											14	34	---	---	---	---	NA	NA	NA	NA
HNRNPD	3184	broad.mit.edu	37	4	83280734	83280735	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:83280734_83280735insC	uc003hmm.1	-	3	666_667	c.348_349insG	c.(346-351)TACTTTfs	p.Y116fs	HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc003hmo.1_Frame_Shift_Ins_p.Y116fs|HNRNPD_uc003hmp.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc010ijr.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc011cci.1_Intron	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D	116_117	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding				0						AATTTGGAAAAGTAGTCCTTCA	0.376		NA											31	55	---	---	---	---	NA	NA	NA	NA
NR2E1	7101	broad.mit.edu	37	6	108508599	108508599	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:108508599delA	uc003psg.2	+	9	1845	c.1090delA	c.(1090-1092)AAAfs	p.K364fs		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	364	Required for transcriptional repression (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AGTGTTTTTCAAAAAAACCAT	0.408		NA											45	137	---	---	---	---	NA	NA	NA	NA
