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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
WDR65	149465	broad.mit.edu	37	1	43650921	43650921	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:43650921T>C	uc001cip.1	+	5	984	c.863T>C	c.(862-864)ATT>ACT	p.I288T	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.I277T|WDR65_uc001ciq.1_Missense_Mutation_p.I288T	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	288										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGTTTGCCATTGCAGCCTAT	0.498			NA											53	89					0	0	0.00361	0	0
CD160	11126	broad.mit.edu	37	1	145699074	145699074	+	Silent	SNP	T	T	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:145699074T>A	uc001eol.1	-	5	635	c.417A>T	c.(415-417)ACA>ACT	p.T139T	NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Silent_p.T30T|CD160_uc010oyz.1_RNA	NM_007053	NP_008984	O95971	BY55_HUMAN	CD160 antigen precursor	139					cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATCCCGTCACTGTGTAGTTCC	0.433	Colon(182;1122 1999 4065 44014 53024)		NA											32	74					0	0	0.003271	0	0
OTUD7B	56957	broad.mit.edu	37	1	149936222	149936222	+	Silent	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:149936222T>C	uc001etn.2	-	6	1013	c.657A>G	c.(655-657)GCA>GCG	p.A219A	OTUD7B_uc001eto.2_Silent_p.A140A	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	219	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCTCCATCAGTGCATACAAAG	0.507			NA											83	119					0	0	0.00361	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460449	160460449	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:160460449T>G	uc001fwe.1	-	4	733	c.673A>C	c.(673-675)AAA>CAA	p.K225Q	SLAMF6_uc001fwd.1_Missense_Mutation_p.K225Q|SLAMF6_uc010pjh.1_Missense_Mutation_p.K176Q|SLAMF6_uc010pji.1_Missense_Mutation_p.K114Q|SLAMF6_uc010pjj.1_Missense_Mutation_p.K114Q|SLAMF6_uc009wtm.1_3'UTR	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	225	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGAATCATTTTGGTATCTGTA	0.383			NA											5	126					0	0	0.001168	0	0
FMO4	2329	broad.mit.edu	37	1	171303668	171303668	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:171303668A>T	uc001gho.2	+	8	1163	c.946A>T	c.(946-948)ACA>TCA	p.T316S		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	316					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGAAGATGGGACAGTGGAAGA	0.383	Pancreas(24;816 862 7754 7993 32832)		NA											78	107					0	0	0.00361	0	0
GLUL	2752	broad.mit.edu	37	1	182353654	182353654	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:182353654G>A	uc001gpa.1	-	7	1220	c.1008C>T	c.(1006-1008)TAC>TAT	p.Y336Y	GLUL_uc010pnt.1_Silent_p.Y123Y|GLUL_uc001gpb.1_Silent_p.Y336Y|GLUL_uc001gpc.1_Silent_p.Y336Y|GLUL_uc001gpd.1_Silent_p.Y336Y	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	336					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GATCTTCAAAGTAACCCTTCT	0.547			NA											5	82					0	0	0.000602	0	0
ZNF25	219749	broad.mit.edu	37	10	38241751	38241751	+	Silent	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr10:38241751T>C	uc001ize.1	-	6	780	c.675A>G	c.(673-675)ACA>ACG	p.T225T	ZNF25_uc001izf.1_Silent_p.T189T	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GTTTCTCCCCTGTGTGTGTTT	0.423			NA											13	276					0	0	0.001855	0	0
LOC399815	399815	broad.mit.edu	37	10	124647809	124647809	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr10:124647809C>A	uc001lgu.3	+	7	1076	c.178C>A	c.(178-180)CTT>ATT	p.L60I	LOC399815_uc010qua.1_Missense_Mutation_p.L22I					RecName: Full=Putative uncharacterized C10orf88-like protein;												0						TGAAGAGCAGCTTCAGTTGGT	0.378			NA											12	36					3.07112e-06	1.13745e-05	0.000978	1	0
LOC653544	653544	broad.mit.edu	37	10	135491085	135491085	+	Silent	SNP	T	T	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr10:135491085T>A	uc010qvi.1	+	1	807	c.696T>A	c.(694-696)GGT>GGA	p.G232G		NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN	double homeobox, 4-like	232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCGGCGGGGGTCACCCTGCTC	0.741			NA											7	24					0	0	0.008291	0	0
ATM	472	broad.mit.edu	37	11	108236107	108236107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr11:108236107G>T	uc001pkb.1	+	63	9428	c.9043G>T	c.(9043-9045)GAG>TAG	p.E3015*	ATM_uc009yxr.1_Nonsense_Mutation_p.E3015*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E1667*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	3015					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGACTACAAGAGAAACTGAA	0.423			NA	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			48	33					5.13769e-22	2.11138e-21	0.00361	1	0
EXPH5	23086	broad.mit.edu	37	11	108383265	108383265	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr11:108383265T>C	uc001pkk.2	-	6	3080	c.2969A>G	c.(2968-2970)GAA>GGA	p.E990G	EXPH5_uc010rvy.1_Missense_Mutation_p.E802G|EXPH5_uc010rvz.1_Missense_Mutation_p.E834G|EXPH5_uc010rwa.1_Missense_Mutation_p.E914G	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	990					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGATATACTTTCTGTTTTGCT	0.363			NA											30	119					0	0	0.002836	0	0
KDM5A	5927	broad.mit.edu	37	12	442778	442778	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:442778C>A	uc001qif.1	-	12	1891	c.1528G>T	c.(1528-1530)GCT>TCT	p.A510S	KDM5A_uc001qie.1_Missense_Mutation_p.A510S|KDM5A_uc010sdn.1_Missense_Mutation_p.A469S|KDM5A_uc010sdo.1_Missense_Mutation_p.A129S	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	510	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TGCTCTGCAGCATGAGATGGC	0.378			NA	T 	NUP98	AML								66	91					2.36135e-34	1.04177e-33	0.00361	1	0
CLEC9A	283420	broad.mit.edu	37	12	10213811	10213811	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:10213811G>T	uc001qxa.2	+	6	871	c.258G>T	c.(256-258)AAG>AAT	p.K86N		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	86	Extracellular (Potential).				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1						CAGAATGGAAGAGAAGCTGTG	0.408			NA											31	61					1.99505e-19	7.98021e-19	0.002445	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	12					0	0	0.001855	0	0
BICD1	636	broad.mit.edu	37	12	32491750	32491750	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:32491750C>G	uc001rku.2	+	8	2682	c.2601C>G	c.(2599-2601)AGC>AGG	p.S867R	BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	867					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GTGATCAGAGCCGTCCCAGGA	0.428			NA											97	294					0	0	0.00361	0	0
TC2N	123036	broad.mit.edu	37	14	92268648	92268648	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr14:92268648A>T	uc001xzu.3	-	4	610	c.419T>A	c.(418-420)TTG>TAG	p.L140*	TC2N_uc001xzt.3_Nonsense_Mutation_p.L140*|TC2N_uc010auc.2_Nonsense_Mutation_p.L140*|TC2N_uc001xzv.3_Nonsense_Mutation_p.L140*	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	140						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		GCGTCGACTCAAATCAGGTGA	0.418			NA											81	43					0	0	0.00361	0	0
RFX7	64864	broad.mit.edu	37	15	56387452	56387452	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr15:56387452C>A	uc010bfn.2	-	9	2474	c.2474G>T	c.(2473-2475)GGA>GTA	p.G825V	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.G639V	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	728					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						CTGTGGCATTCCTTCTAATTC	0.388			NA											73	96					1.96331e-54	9.06144e-54	0.00361	1	0
OR1F2P	26184	broad.mit.edu	37	16	3266071	3266071	+	Missense_Mutation	SNP	A	A	G	rs2550401	by1000genomes	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr16:3266071A>G	uc010uwv.1	+	1	510	c.362A>G	c.(361-363)AAT>AGT	p.N121S		NR_002169				RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2;												0						GCCAACTCGAATGCTCTGCTG	0.562			NA											3	58					0	0	0.004672	0	0
BBS2	583	broad.mit.edu	37	16	56545113	56545113	+	Silent	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr16:56545113A>G	uc002ejd.2	-	3	663	c.429T>C	c.(427-429)GCT>GCC	p.A143A	BBS2_uc010ccg.2_Silent_p.A143A	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	143					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						AACCTTGCAGAGCACAATTGC	0.398			NA							Bardet-Biedl_syndrome				59	168					0	0	0.00361	0	0
MYH1	4619	broad.mit.edu	37	17	10412919	10412919	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr17:10412919C>A	uc002gmo.2	-	15	1564	c.1470G>T	c.(1468-1470)CAG>CAT	p.Q490H	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	490	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GGTTGAAAAACTGTTGCAGTT	0.433			NA											75	85					3.48418e-26	1.47219e-25	0.00361	1	0
ZFP112	7771	broad.mit.edu	37	19	44847409	44847409	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr19:44847409G>A	uc010ejj.2	-	2	125	c.12C>T	c.(10-12)TTC>TTT	p.F4F	ZFP112_uc002ozc.3_Intron|ZFP112_uc010xwy.1_Silent_p.F21F|ZFP112_uc010xwz.1_Intron	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	4				KFQ -> VSK (in Ref. 1; AAF12816).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						AGCTCACCTGGAATTTGGTCA	0.403	Melanoma(53;975 1202 7512 15993 27273)		NA											31	83					0	0	0.003271	0	0
ALMS1	7840	broad.mit.edu	37	2	73830395	73830395	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:73830395C>T	uc002sje.1	+	23	12440	c.12329C>T	c.(12328-12330)CCT>CTT	p.P4110L	ALMS1_uc002sjf.1_Missense_Mutation_p.P4066L|ALMS1_uc002sjh.1_Missense_Mutation_p.P3496L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4108					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AAGAACAAGCCTATCAGCAAG	0.483			NA											13	23					0	0	0.004007	0	0
ALMS1	7840	broad.mit.edu	37	2	73830399	73830399	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:73830399C>G	uc002sje.1	+	23	12444	c.12333C>G	c.(12331-12333)ATC>ATG	p.I4111M	ALMS1_uc002sjf.1_Missense_Mutation_p.I4067M|ALMS1_uc002sjh.1_Missense_Mutation_p.I3497M	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4109					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACAAGCCTATCAGCAAGAAGG	0.488			NA											11	22					0	0	0.00245	0	0
REG1B	5968	broad.mit.edu	37	2	79314711	79314711	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:79314711G>T	uc002sny.2	-	2	140	c.28C>A	c.(28-30)CTG>ATG	p.L10M	REG1B_uc010ffv.1_Missense_Mutation_p.L10M|REG1B_uc010ffw.2_Missense_Mutation_p.L10M	NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	10					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						GAGGAGATCAGCATGAAGAAC	0.493			NA											23	24					2.44723e-14	9.41243e-14	0.004656	1	0
RANBP2	5903	broad.mit.edu	37	2	109381162	109381162	+	Silent	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:109381162A>T	uc002tem.3	+	20	4293	c.4167A>T	c.(4165-4167)CCA>CCT	p.P1389P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1389					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTGGCCCACCATTAGCTGAAA	0.408			NA											87	162					0	0	0.00361	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247751	179247751	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:179247751T>C	uc002ulx.2	+	17	2000	c.1622T>C	c.(1621-1623)ATC>ACC	p.I541T	OSBPL6_uc002uly.2_Missense_Mutation_p.I566T|OSBPL6_uc010zfe.1_Missense_Mutation_p.I510T|OSBPL6_uc002ulz.2_Missense_Mutation_p.I505T|OSBPL6_uc002uma.2_Missense_Mutation_p.I545T	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	541					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTCTTCCAGTCCTGAATGGG	0.453			NA											44	57					0	0	0.00361	0	0
TTN	7273	broad.mit.edu	37	2	179615912	179615912	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:179615912T>C	uc002unb.2	-	46	11439	c.11215A>G	c.(11215-11217)AAA>GAA	p.K3739E	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	9587							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)			AGAATATCTTTATCACTAGCT	0.338			NA											33	126					0	0	0.001786	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						CTGATTCCAGGTGAGCTTATG	0.289			NA											3	33					8.12818e-05	0.000290292	0.001984	1	0
BPI	671	broad.mit.edu	37	20	36952397	36952397	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr20:36952397G>A	uc002xib.2	+	8	956	c.894G>A	c.(892-894)GGG>GGA	p.G298G		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	298					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				ACACAGCCGGGCTTGTATACC	0.557			NA											30	33					0	0	0.002836	0	0
GNAS	2778	broad.mit.edu	37	20	57428785	57428785	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr20:57428785C>G	uc002xzw.2	+	1	750	c.465C>G	c.(463-465)AGC>AGG	p.S155R	GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGGATACAGCCCTCCACCAG	0.612	Colon(117;935 1597 6045 8307 46442)		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			12	16					0	0	0.001855	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642327	19642327	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr21:19642327C>A	uc002ykw.2	-	25	3050	c.3019G>T	c.(3019-3021)GTC>TTC	p.V1007F		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	1007	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						AACCTTGAGACCCTGGCATAC	0.433			NA											5	100					0.000602214	0.00212546	0.000602	1	0
BAP1	8314	broad.mit.edu	37	3	52441235	52441235	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:52441235G>A	uc003ddx.2	-	7	650	c.535C>T	c.(535-537)CGG>TGG	p.R179W	BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	179					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCAAAGAGCCGGCCTGTGATA	0.597	GBM(101;493 1458 7992 21037 25532)		NA	N|Mis|F|S|O		uveal melanoma|breast|NSCLC								31	31					0	0	0.004878	0	0
SENP7	57337	broad.mit.edu	37	3	101050843	101050843	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:101050843T>C	uc003dut.2	-	19	2795	c.2684A>G	c.(2683-2685)GAC>GGC	p.D895G	SENP7_uc003duu.2_Missense_Mutation_p.D830G|SENP7_uc003duv.2_Missense_Mutation_p.D862G|SENP7_uc003duw.2_Missense_Mutation_p.D829G|SENP7_uc003dux.2_Missense_Mutation_p.D731G|SENP7_uc003dus.2_Missense_Mutation_p.D83G	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	895	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TGTTTTGTTGTCATTTTGGGA	0.373			NA											11	189					0	0	0.001368	0	0
CASR	846	broad.mit.edu	37	3	122002536	122002536	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:122002536G>A	uc003eev.3	+	7	2107	c.1735G>A	c.(1735-1737)GCC>ACC	p.A579T	CASR_uc003eew.3_Missense_Mutation_p.A589T	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	579	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTTTACAGATGCCAGTGCCTG	0.473			NA											12	65					0	0	0.001368	0	0
CPB1	1360	broad.mit.edu	37	3	148562468	148562468	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:148562468G>A	uc003ewl.2	+	8	715	c.692G>A	c.(691-693)CGA>CAA	p.R231Q		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	231					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTCAGAGCCGATTTTGGAGA	0.443			NA											64	34					0	0	0.00361	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198379	170198379	+	Silent	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:170198379C>A	uc003fgz.2	-	7	2008	c.1692G>T	c.(1690-1692)ACG>ACT	p.T564T	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	564						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGATGGTCACCGTGTGCCCCG	0.532			NA											61	22					2.18419e-29	9.4965e-29	0.00361	1	0
SDHAP2	727956	broad.mit.edu	37	3	195400795	195400795	+	Missense_Mutation	SNP	C	C	T	rs7615357	by1000genomes	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:195400795C>T	uc003fuw.2	+	9	1285	c.91C>T	c.(91-93)CGC>TGC	p.R31C	SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA					SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);												0						GGGGCAAACTCGCTGTTGGAC	0.592			NA											4	58					0	0	0.001168	0	0
EIF4E	1977	broad.mit.edu	37	4	99802265	99802265	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:99802265G>A	uc003hue.2	-	7	2091	c.568C>T	c.(568-570)CCT>TCT	p.P190S	EIF4E_uc011cea.1_Missense_Mutation_p.P210S|EIF4E_uc011ceb.1_Missense_Mutation_p.P221S	NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	190					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		ATCTTTGGAGGAAGTCCTAAC	0.358			NA											18	46					0	0	0.004656	0	0
LARP1B	55132	broad.mit.edu	37	4	129043234	129043234	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:129043234C>G	uc003iga.2	+	11	1546	c.1415C>G	c.(1414-1416)TCT>TGT	p.S472C	LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.S472C|LARP1B_uc003igb.1_Missense_Mutation_p.S187C	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	472							RNA binding				0						ACCCACATGTCTCGGGCAAAA	0.378			NA											24	143					0	0	0.003954	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504477	151504477	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:151504477T>C	uc003ilw.2	+	1	1401	c.296T>C	c.(295-297)GTG>GCG	p.V99A	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	99					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCTGCGCAGTGCTCAAACTG	0.597			NA											18	76					0	0	0.007413	0	0
FBXL7	23194	broad.mit.edu	37	5	15928027	15928027	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:15928027C>A	uc003jfn.1	+	3	637	c.156C>A	c.(154-156)AGC>AGA	p.S52R		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	52					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GCACACTGAGCACGCCCAGCC	0.587			NA											25	95					2.41591e-17	9.53649e-17	0.004656	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33616058	33616058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:33616058C>A	uc003jia.1	-	15	2426	c.2263G>T	c.(2263-2265)GGA>TGA	p.G755*	ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.G670*	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	755	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						ATAAACCCTCCATTCAGGTAA	0.468			NA								HNSCC(64;0.19)			69	125					1.07363e-35	4.8073e-35	0.00361	1	0
OXCT1	5019	broad.mit.edu	37	5	41805723	41805723	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:41805723C>A	uc003jmn.2	-	9	1232	c.901G>T	c.(901-903)GTA>TTA	p.V301L		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	301					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	CGTTCCCTTACGTCATCTCCA	0.438			NA											53	110					1.74971e-23	7.29046e-23	0.00361	1	0
TRIM23	373	broad.mit.edu	37	5	64890374	64890374	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:64890374G>C	uc003jty.2	-	10	1605	c.1519C>G	c.(1519-1521)CTG>GTG	p.L507V	TRIM23_uc003jtw.2_Missense_Mutation_p.L507V|TRIM23_uc003jtx.2_Missense_Mutation_p.L507V	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	507	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATCAGGAGCAGAGCATCTCGG	0.358			NA											57	100					0	0	0.00361	0	0
CARTPT	9607	broad.mit.edu	37	5	71016433	71016433	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:71016433G>C	uc003kbv.1	+	3	469	c.342G>C	c.(340-342)AAG>AAC	p.K114N		NM_004291	NP_004282	Q16568	CART_HUMAN	cocaine- and amphetamine-regulated transcript	114					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				ovary(1)	1		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TCCTCCTGAAGTGCTTATGAA	0.557			NA											7	14					0	0	0.00308	0	0
CAMK4	814	broad.mit.edu	37	5	110814095	110814095	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:110814095C>G	uc011cvj.1	+	10	817	c.718C>G	c.(718-720)CCA>GCA	p.P240A	CAMK4_uc003kpf.2_Missense_Mutation_p.P240A|CAMK4_uc010jbv.2_Missense_Mutation_p.P43A	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	240	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGATTTGAACCATTCTATGA	0.343			NA											10	195					0	0	0.001368	0	0
DTWD2	285605	broad.mit.edu	37	5	118183901	118183901	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:118183901T>C	uc003ksa.2	-	5	644	c.610A>G	c.(610-612)ACT>GCT	p.T204A		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	204											0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GAAATGCTAGTTTTTAATTGC	0.303			NA											11	59					0	0	0.00245	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207997	140207997	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:140207997G>T	uc003lho.2	+	1	348	c.321G>T	c.(319-321)GAG>GAT	p.E107D	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_Missense_Mutation_p.E107D|PCDHA6_uc011dab.1_Missense_Mutation_p.E107D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	107	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACCTGGAGGTGATCGTGG	0.567			NA											94	159					1.6041e-38	7.29135e-38	0.00361	1	0
GABRA6	2559	broad.mit.edu	37	5	161112996	161112996	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:161112996A>G	uc003lyu.2	+	1	339	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	1					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCACTGCAGGATGGCGTCGTC	0.463			NA								TCGA Ovarian(5;0.080)			11	125					0	0	0.001368	0	0
SMAP1	60682	broad.mit.edu	37	6	71566660	71566660	+	Silent	SNP	A	A	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:71566660A>C	uc003pfr.2	+	9	1136	c.888A>C	c.(886-888)GCA>GCC	p.A296A	SMAP1_uc003pfs.2_Silent_p.A269A|SMAP1_uc010kao.2_Silent_p.A269A|SMAP1_uc010kap.2_Silent_p.A286A	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	296					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0						AAGAAGTGGCAAAGAAACAAC	0.428			NA											4	167					0	0	0.000602	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113394	117113394	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:117113394G>T	uc003pxj.1	-	6	2714	c.2692C>A	c.(2692-2694)CTT>ATT	p.L898I	GPRC6A_uc003pxk.1_Missense_Mutation_p.L723I|GPRC6A_uc003pxl.1_Missense_Mutation_p.L827I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	898	Cytoplasmic (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)		TGTGCCTGAAGATCTTTGCTT	0.453			NA											8	222					2.17888e-05	7.87546e-05	0.006214	1	0
TAAR8	83551	broad.mit.edu	37	6	132874425	132874425	+	Silent	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:132874425G>T	uc011ecj.1	+	1	594	c.594G>T	c.(592-594)GTG>GTT	p.V198V		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	198	Helical; Name=5; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		AAGGCTGGGTGTTGATAGATT	0.358			NA											24	93					6.21321e-17	2.42073e-16	0.00278	1	0
PEX3	8504	broad.mit.edu	37	6	143792568	143792568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:143792568C>T	uc003qjl.2	+	6	767	c.505C>T	c.(505-507)CAG>TAG	p.Q169*	PEX3_uc011edx.1_Nonsense_Mutation_p.Q169*	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	169	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		ATCAAGTATTCAGCACCTACT	0.284			NA											12	160					0	0	0.001855	0	0
HECW1	23072	broad.mit.edu	37	7	43484237	43484237	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr7:43484237A>G	uc003tid.1	+	11	2071	c.1466A>G	c.(1465-1467)GAG>GGG	p.E489G	HECW1_uc011kbi.1_Missense_Mutation_p.E489G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	489	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CCCTTGGAGGAGGAAGCAACG	0.542			NA											12	13					0	0	0.001368	0	0
EPHB6	2051	broad.mit.edu	37	7	142564781	142564781	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr7:142564781G>T	uc011kst.1	+	11	2492	c.1705G>T	c.(1705-1707)GGC>TGC	p.G569C	EPHB6_uc011ksu.1_Missense_Mutation_p.G569C|EPHB6_uc003wbs.2_Missense_Mutation_p.G277C|EPHB6_uc003wbt.2_Missense_Mutation_p.G43C|EPHB6_uc003wbu.2_Missense_Mutation_p.G277C|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	569	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TGCCGGCCACGGCCCCTACGG	0.627			NA											11	49					4.36969e-10	1.63863e-09	0.001855	1	0
FAM110B	90362	broad.mit.edu	37	8	59059695	59059695	+	Silent	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:59059695C>T	uc003xtj.1	+	5	1786	c.906C>T	c.(904-906)GAC>GAT	p.D302D		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	302						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CTAATTCTGACATAATATCCC	0.493			NA											7	127					0	0	0.001984	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813793	106813793	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:106813793G>T	uc003ymd.2	+	8	1506	c.1483G>T	c.(1483-1485)GGC>TGC	p.G495C	ZFPM2_uc011lhs.1_Missense_Mutation_p.G226C	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	495					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTCCCTGTGGGCCCTTTCCT	0.458			NA											50	306					4.1673e-28	1.78599e-27	0.00361	1	0
CSMD3	114788	broad.mit.edu	37	8	113649131	113649131	+	Silent	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:113649131C>T	uc003ynu.2	-	22	3789	c.3630G>A	c.(3628-3630)TCG>TCA	p.S1210S	CSMD3_uc003yns.2_Silent_p.S482S|CSMD3_uc003ynt.2_Silent_p.S1170S|CSMD3_uc011lhx.1_Silent_p.S1106S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1210	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane		p.S1210L(1)		ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTCGATAACCCGAAGAGCATG	0.507			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	223					0	0	0.005443	0	0
TATDN1	83940	broad.mit.edu	37	8	125534428	125534428	+	Silent	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:125534428A>G	uc003yrd.2	-	3	144	c.102T>C	c.(100-102)GAT>GAC	p.D34D	TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Intron|TATDN1_uc003yrf.2_Silent_p.D34D	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	34						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCCTATTACATCCTGTAAGT	0.264			NA											7	182					0	0	0.00308	0	0
CNTLN	54875	broad.mit.edu	37	9	17298270	17298270	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:17298270C>G	uc003zmz.2	+	7	1092	c.1066C>G	c.(1066-1068)CAG>GAG	p.Q356E	CNTLN_uc003zmx.3_Missense_Mutation_p.Q356E|CNTLN_uc003zmy.2_Missense_Mutation_p.Q356E|CNTLN_uc010mio.2_Missense_Mutation_p.Q35E	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	356						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CCAGCAGCTTCAGGTTCTCAA	0.403			NA											42	22					0	0	0.002522	0	0
OR13F1	138805	broad.mit.edu	37	9	107266550	107266550	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:107266550C>A	uc011lvm.1	+	1	7	c.7C>A	c.(7-9)CCG>ACG	p.P3T		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						AAAAATGTTCCCGGCAAATTG	0.383			NA											33	48					1.04352e-10	3.96272e-10	0.003755	1	0
NUP214	8021	broad.mit.edu	37	9	134015959	134015959	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:134015959G>C	uc004cag.2	+	11	1267	c.1156G>C	c.(1156-1158)GCT>CCT	p.A386P	NUP214_uc004cah.2_Missense_Mutation_p.A386P|NUP214_uc004caf.1_Missense_Mutation_p.A386P	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	386					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCTTCCTCCTGCTCCAGTTCT	0.393	Pancreas(4;24 48 25510 30394 32571)		NA	T	DEK|SET|ABL1	AML|T-ALL								11	164					0	0	0.001855	0	0
TAZ	6901	broad.mit.edu	37	X	153648424	153648424	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chrX:153648424T>C	uc004fkx.2	+	8	941	c.637T>C	c.(637-639)TGG>CGG	p.W213R	TAZ_uc004fky.2_Missense_Mutation_p.W199R|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.W183R|TAZ_uc004flb.2_Missense_Mutation_p.W169R|TAZ_uc010nuy.2_Missense_Mutation_p.W217R|TAZ_uc004flc.3_Missense_Mutation_p.W144R	NM_000116	NP_000107	Q16635	TAZ_HUMAN	tafazzin isoform 1	213					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CCTGCCCCTGTGGCATGTCGG	0.642			NA											7	115					0	0	0.00308	0	0
RNF139	11236	broad.mit.edu	37	8	125499067	125499084	+	In_Frame_Del	DEL	CTGTTTGTCTCTGCTTGC	CTGTTTGTCTCTGCTTGC	-	rs142948801		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	CTGTTTGTCTCTGCTTGC	CTGTTTGTCTCTGCTTGC	-	-	CTGTTTGTCTCTGCTTGC	CTGTTTGTCTCTGCTTGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:125499067_125499084delCTGTTTGTCTCTGCTTGC	uc003yrc.2	+	2	1520_1537	c.1177_1194delCTGTTTGTCTCTGCTTGC	c.(1177-1194)CTGTTTGTCTCTGCTTGCdel	p.LFVSAC393del		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	393_398	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTCCTGTGCTGTTTGTCTCTGCTTGCCTGTTTATTC	0.404			NA							Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				219	576	---	---	---	---	NA	NA	NA	NA	NA
