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
SKI	6497	broad.mit.edu	37	1	2160913	2160913	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:2160913C>T	uc001aja.3	+	1	780	c.708C>T	c.(706-708)CTC>CTT	p.L236L		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	236					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGCCCGAGCTCTACAGCAGCC	0.682		NA											10	17					0	0	0	0
KIF1B	23095	broad.mit.edu	37	1	10384836	10384836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:10384836G>A	uc001aqx.3	+	26	2760	c.2558G>A	c.(2557-2559)CGA>CAA	p.R853Q	KIF1B_uc001aqw.3_Missense_Mutation_p.R807Q|KIF1B_uc001aqy.2_Missense_Mutation_p.R827Q|KIF1B_uc001aqz.2_Missense_Mutation_p.R853Q|KIF1B_uc001ara.2_Missense_Mutation_p.R813Q|KIF1B_uc001arb.2_Missense_Mutation_p.R839Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	853	Potential.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.C853F(1)		ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATTTGATGCGAGAGATGTAT	0.463		NA											20	53					0	0	0	0
FAM46B	115572	broad.mit.edu	37	1	27332876	27332876	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:27332876G>A	uc010ofj.1	-	2	1009	c.837C>T	c.(835-837)CTC>CTT	p.L279L		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	279										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGTACTTGAGGAGGCCACCAC	0.677		NA											9	18					0	0	0	0
NCDN	23154	broad.mit.edu	37	1	36031042	36031042	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:36031042C>T	uc001bza.2	+	8	2095	c.1968C>T	c.(1966-1968)CCC>CCT	p.P656P	NCDN_uc001bzb.2_Silent_p.P656P|NCDN_uc001bzc.2_Silent_p.P639P	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	656					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGCCCCCGCTGCCCTGC	0.682		NA											11	20					0	0	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610702	50610702	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:50610702A>G	uc001csb.2	+	2	351	c.83A>G	c.(82-84)AAC>AGC	p.N28S	ELAVL4_uc001cry.3_Missense_Mutation_p.N31S|ELAVL4_uc001crz.3_Missense_Mutation_p.N28S|ELAVL4_uc001csa.3_Missense_Mutation_p.N45S|ELAVL4_uc001csc.3_Missense_Mutation_p.N28S|ELAVL4_uc009vyu.2_Missense_Mutation_p.N33S|ELAVL4_uc010omz.1_Missense_Mutation_p.N33S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	28					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						TCCAGCAACAACAGAAACTGT	0.418		NA											12	25					0	0	0	0
FGGY	55277	broad.mit.edu	37	1	59812064	59812064	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:59812064G>C	uc001czi.3	+	4	671	c.459G>C	c.(457-459)CTG>CTC	p.L153L	FGGY_uc001czg.2_Silent_p.L41L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.L153L|FGGY_uc001czj.3_Silent_p.L153L|FGGY_uc001czk.3_Silent_p.L41L|FGGY_uc001czl.3_Intron	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	153					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TTCTGTGGCTGAAAGAGGTGA	0.498		NA											9	19					0	0	0	0
LEPR	3953	broad.mit.edu	37	1	66101886	66101886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:66101886G>C	uc001dci.2	+	20	2888	c.2686G>C	c.(2686-2688)GAG>CAG	p.E896Q	LEPR_uc009waq.2_Missense_Mutation_p.L169F	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	896	Cytoplasmic (Potential).|Required for JAK2 activation (By similarity).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGAAACGTTTGAGCATCTTTT	0.348		NA											29	95					0	0	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057080	120057080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:120057080C>T	uc001ehv.1	+	4	1079	c.934C>T	c.(934-936)CGA>TGA	p.R312*	HSD3B1_uc001ehw.2_Nonsense_Mutation_p.R314*	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	312					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTACACCTATCGACCGCCCTT	0.473		NA											40	118					0	0	0	0
ZNF697	90874	broad.mit.edu	37	1	120165638	120165638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:120165638C>T	uc001ehy.1	-	3	1442	c.1328G>A	c.(1327-1329)GGG>GAG	p.G443E		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	443	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAAGCCCTTCCCGCACTCGCG	0.667		NA											3	6					0	0	0	0
SETDB1	9869	broad.mit.edu	37	1	150900253	150900253	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:150900253G>A	uc001evu.2	+	2	253	c.63G>A	c.(61-63)GAG>GAA	p.E21E	SETDB1_uc009wmf.2_Silent_p.E21E|SETDB1_uc001evv.2_Silent_p.E21E|SETDB1_uc001evw.3_Silent_p.E21E|SETDB1_uc009wmg.1_Silent_p.E21E	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	21	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCTGAAGAGATTGCAGAGC	0.463		NA											17	92					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:152279854G>A	uc001ezu.1	-	3	7544	c.7508C>T	c.(7507-7509)GCC>GTC	p.A2503V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547		NA							Ichthyosis				183	353					0	0	0	0
OR10R2	343406	broad.mit.edu	37	1	158450344	158450344	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:158450344T>C	uc010pik.1	+	1	677	c.677T>C	c.(676-678)GTA>GCA	p.V226A	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	226	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					GGAGTTCTTGTACTTGTGGTT	0.413		NA											26	87					0	0	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564443	176564443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:176564443G>A	uc001gkz.2	+	3	2867	c.1703G>A	c.(1702-1704)AGC>AAC	p.S568N	PAPPA2_uc001gky.1_Missense_Mutation_p.S568N|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	568	Metalloprotease.			S -> N (in Ref. 2; AAL17780).	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						TGGCAGCTGAGCGTCCACCAG	0.567		NA											21	81					0	0	0	0
CEP350	9857	broad.mit.edu	37	1	179989427	179989427	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:179989427G>C	uc001gnt.2	+	12	2901	c.2518G>C	c.(2518-2520)GAA>CAA	p.E840Q	CEP350_uc009wxl.2_Missense_Mutation_p.E839Q|CEP350_uc001gnu.2_Missense_Mutation_p.E674Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	840						centrosome|nucleus|spindle				ovary(4)	4						CAGCAGAATTGAAAGTGAAGC	0.448		NA											57	169					0	0	0	0
ACBD6	84320	broad.mit.edu	37	1	180471273	180471273	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:180471273G>A	uc001gog.2	-	1	750	c.129C>T	c.(127-129)GCC>GCT	p.A43A		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	43	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1						CAAACAGCTCGGCCAGGCAAC	0.612		NA											9	33					0	0	0	0
GLT25D2	23127	broad.mit.edu	37	1	183938459	183938459	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:183938459T>G	uc001gqr.2	-	5	1148	c.776A>C	c.(775-777)GAC>GCC	p.D259A	GLT25D2_uc010poj.1_Missense_Mutation_p.D259A|GLT25D2_uc001gqs.2_Missense_Mutation_p.D139A	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	259					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CCAGGTGTAGTCCTGGTGTGG	0.537		NA											24	71					0	0	0	0
F13B	2165	broad.mit.edu	37	1	197024886	197024886	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:197024886C>T	uc001gtt.1	-	8	1357	c.1313G>A	c.(1312-1314)CGT>CAT	p.R438H		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	438	Sushi 7.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TTGTTCGCAACGAGATATTTT	0.413		NA											11	53					0	0	0	0
CNTN2	6900	broad.mit.edu	37	1	205039107	205039107	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:205039107C>A	uc001hbr.2	+	18	2618	c.2349C>A	c.(2347-2349)CCC>CCA	p.P783P	CNTN2_uc001hbq.1_Silent_p.P674P|CNTN2_uc001hbs.2_Silent_p.P571P	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	783	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTACACGCCCTTTGAGGTCA	0.667		NA											21	82					1.5e-11	1.69e-11	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213277818	213277818	+	Silent	SNP	C	C	A	rs56056039	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:213277818C>A	uc010ptr.1	+	4	444	c.285C>A	c.(283-285)ATC>ATA	p.I95I	RPS6KC1_uc001hkd.2_Silent_p.I83I|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_5'UTR|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_5'UTR	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	95	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAACTGTTATCGAAGAGAGAA	0.373		NA											8	50					3.1e-07	3.45e-07	1	0
LIN9	286826	broad.mit.edu	37	1	226421074	226421074	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:226421074T>C	uc001hqa.2	-	13	1754	c.1444A>G	c.(1444-1446)AGG>GGG	p.R482G	LIN9_uc001hqb.2_Missense_Mutation_p.R447G|LIN9_uc001hqc.2_Missense_Mutation_p.R414G|LIN9_uc009xel.1_Missense_Mutation_p.R447G	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	466					cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCTGTAAGCCTGGAAATTAAG	0.368		NA											3	146					0	0	0	0
OBSCN	84033	broad.mit.edu	37	1	228495827	228495827	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:228495827T>C	uc009xez.1	+	47	12526	c.12482T>C	c.(12481-12483)ATT>ACT	p.I4161T	OBSCN_uc001hsn.2_Missense_Mutation_p.I4161T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4161					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GAGGTGACCATTGTACGGGGG	0.612		NA											14	68					0	0	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394516	233394516	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:233394516G>A	uc001hvl.2	-	5	1327	c.1092C>T	c.(1090-1092)CCC>CCT	p.P364P	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	364						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGGGTCTCCGGGTTGAGAAG	0.517		NA											29	119					0	0	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234745081	234745081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:234745081C>A	uc001hwg.2	-	1	191	c.160G>T	c.(160-162)GAG>TAG	p.E54*	IRF2BP2_uc009xfw.2_5'Flank|IRF2BP2_uc001hwf.2_Nonsense_Mutation_p.E54*	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGCGCCGTCTCGATGACGAAC	0.746		NA											4	5					0.00116845	0.00125847	1	0
RBM34	23029	broad.mit.edu	37	1	235295270	235295270	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:235295270C>G	uc001hwn.2	-	11	1081	c.1051G>C	c.(1051-1053)GAA>CAA	p.E351Q	RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	351	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CCCATGAGTTCAGAATTATTT	0.318		NA											12	43					0	0	0	0
KIF26B	55083	broad.mit.edu	37	1	245772637	245772637	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:245772637C>G	uc001ibf.1	+	8	2161	c.1721C>G	c.(1720-1722)TCT>TGT	p.S574C	KIF26B_uc010pyq.1_Missense_Mutation_p.S574C|KIF26B_uc001ibg.1_Missense_Mutation_p.S192C	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	574	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGCCATCTCTTGGCTCTTC	0.537		NA											5	12					0	0	0	0
PFKP	5214	broad.mit.edu	37	10	3178029	3178029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:3178029G>C	uc001igp.2	+	21	2260	c.2224G>C	c.(2224-2226)GAG>CAG	p.E742Q	PFKP_uc001igq.2_Missense_Mutation_p.E734Q|PFKP_uc009xhr.2_Missense_Mutation_p.E704Q|PFKP_uc009xht.2_Missense_Mutation_p.E480Q|PFKP_uc009xhu.2_Missense_Mutation_p.E248Q	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	742					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AACGGATTTTGAGTAAGTTGG	0.453		NA											6	23					0	0	0	0
YME1L1	10730	broad.mit.edu	37	10	27423860	27423860	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:27423860G>A	uc001iti.2	-	7	944	c.762C>T	c.(760-762)CTC>CTT	p.L254L	YME1L1_uc001itj.2_Silent_p.L197L|YME1L1_uc010qdl.1_Silent_p.L164L|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	254					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						TGGTTTTCATGAGTTTGTCCA	0.393		NA											14	37					0	0	0	0
NRG3	10718	broad.mit.edu	37	10	84745207	84745207	+	Missense_Mutation	SNP	G	G	T	rs150401464	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:84745207G>T	uc001kco.2	+	9	1964	c.1937G>T	c.(1936-1938)CGG>CTG	p.R646L	NRG3_uc010qlz.1_Missense_Mutation_p.R645L|NRG3_uc001kcp.2_Missense_Mutation_p.R449L|NRG3_uc001kcq.2_Missense_Mutation_p.R296L|NRG3_uc001kcr.2_Missense_Mutation_p.R320L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	670	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GATGCCAGACGGTCAGAAGAC	0.483		NA											15	29					2.32e-09	2.61e-09	1	0
PLCE1	51196	broad.mit.edu	37	10	95791019	95791019	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791019T>C	uc001kjk.2	+	2	850	c.216T>C	c.(214-216)ATT>ATC	p.I72I	PLCE1_uc010qnx.1_Silent_p.I72I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	72					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGCCAAAGATTCTCTCAATAG	0.393		NA											14	29					0	0	0	0
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791437G>T	uc001kjk.2	+	2	1268	c.634G>T	c.(634-636)GAT>TAT	p.D212Y	PLCE1_uc010qnx.1_Missense_Mutation_p.D212Y	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	212					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388		NA											16	45					1.63e-17	1.86e-17	1	0
PLCE1	51196	broad.mit.edu	37	10	95791784	95791784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791784G>C	uc001kjk.2	+	2	1615	c.981G>C	c.(979-981)AGG>AGC	p.R327S	PLCE1_uc010qnx.1_Missense_Mutation_p.R327S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	327					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGTTAGTCAGGAGATTCTGTA	0.403		NA											13	60					0	0	0	0
PLCE1	51196	broad.mit.edu	37	10	95791831	95791831	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791831G>C	uc001kjk.2	+	2	1662	c.1028G>C	c.(1027-1029)GGA>GCA	p.G343A	PLCE1_uc010qnx.1_Missense_Mutation_p.G343A	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	343					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GTGTATACTGGAACAAGAGCA	0.423		NA											9	39					0	0	0	0
APBB1	322	broad.mit.edu	37	11	6431880	6431880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:6431880G>C	uc001mdb.1	-	2	798	c.698C>G	c.(697-699)TCC>TGC	p.S233C	APBB1_uc001mdc.1_Missense_Mutation_p.S233C|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	233					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGAGCCATAGGAGGGGCTGCC	0.592		NA											11	50					0	0	0	0
ST5	6764	broad.mit.edu	37	11	8736175	8736175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:8736175C>T	uc001mgt.2	-	7	2110	c.1924G>A	c.(1924-1926)GAA>AAA	p.E642K	ST5_uc009yfr.2_Missense_Mutation_p.E222K|ST5_uc001mgu.2_Missense_Mutation_p.E222K|ST5_uc001mgv.2_Missense_Mutation_p.E642K|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.E155K	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	642					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GATGCTGTTTCAATGCTGGAC	0.468		NA											6	27					0	0	0	0
ABCC8	6833	broad.mit.edu	37	11	17418492	17418492	+	Missense_Mutation	SNP	C	C	G	rs138642224	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:17418492C>G	uc001mnc.2	-	33	4216	c.4090G>C	c.(4090-4092)GTC>CTC	p.V1364L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1364	Cytoplasmic (By similarity).|ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGCATTGACGTGCTTCAGC	0.612		NA											11	46					0	0	0	0
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:18456337C>T	uc001mon.3	+	5	581	c.469C>T	c.(469-471)CGT>TGT	p.R157C	LDHC_uc001mom.3_Missense_Mutation_p.R157C|LDHC_uc009yhp.2_Missense_Mutation_p.R157C|LDHC_uc001moo.3_Missense_Mutation_p.R41C|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Missense_Mutation_p.R41C	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	157					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	ACCTGTAACTCGTGTAATTGG	0.368		NA											40	75					0	0	0	0
BDNF	627	broad.mit.edu	37	11	27679532	27679532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:27679532C>T	uc010rdu.1	-	2	1431	c.580G>A	c.(580-582)GAA>AAA	p.E194K	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.E194K|BDNF_uc001mrt.2_Missense_Mutation_p.E209K|BDNF_uc010rdw.1_Missense_Mutation_p.E194K|BDNF_uc009yjd.2_Missense_Mutation_p.E194K|BDNF_uc001mru.2_Missense_Mutation_p.E194K|BDNF_uc010rdx.1_Missense_Mutation_p.E194K|BDNF_uc010rdy.1_Missense_Mutation_p.E194K|BDNF_uc009yjg.2_Missense_Mutation_p.E194K|BDNF_uc009yje.2_Missense_Mutation_p.E276K|BDNF_uc009yjf.2_Missense_Mutation_p.E223K|BDNF_uc001mrv.2_Missense_Mutation_p.E194K|BDNF_uc001mrw.3_Missense_Mutation_p.E194K|BDNF_uc001mrx.2_Missense_Mutation_p.E194K|BDNF_uc001mry.3_Missense_Mutation_p.E194K|BDNF_uc001mrz.3_Missense_Mutation_p.E194K|BDNF_uc001msa.2_Missense_Mutation_p.E202K	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	194						extracellular region	growth factor activity				0						CTGCAGCCTTCTTTTGTGTAA	0.512		NA											38	108					0	0	0	0
ELP4	26610	broad.mit.edu	37	11	31531473	31531473	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:31531473T>C	uc001mtb.2	+	1	177	c.142T>C	c.(142-144)TCC>CCC	p.S48P	IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.S48P|ELP4_uc010rdz.1_Missense_Mutation_p.S48P|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	48					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					TCGACTGGTGTCCATTGCGGG	0.627		NA											27	59					0	0	0	0
PRR5L	79899	broad.mit.edu	37	11	36472865	36472865	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:36472865C>G	uc001mwo.3	+	8	1081	c.692C>G	c.(691-693)TCA>TGA	p.S231*	PRR5L_uc001mwp.2_Nonsense_Mutation_p.S231*|PRR5L_uc009ykk.2_Nonsense_Mutation_p.S103*|PRR5L_uc010rfc.1_Intron	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	231										ovary(1)	1						CGTAGCTTCTCAGGCCCCACG	0.537		NA											13	37					0	0	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926322	45926322	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:45926322C>G	uc001nbr.2	+	9	2000	c.1830C>G	c.(1828-1830)GTC>GTG	p.V610V		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	610	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		CCAGCTGTGTCCTGGAGATCA	0.607		NA											28	86					0	0	0	0
FOLH1	2346	broad.mit.edu	37	11	49229949	49229949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:49229949G>A	uc001ngy.2	-	1	274	c.13C>T	c.(13-15)CTT>TTT	p.L5F	FOLH1_uc001ngz.2_Missense_Mutation_p.L5F|FOLH1_uc009yly.2_5'UTR|FOLH1_uc009ylz.2_5'UTR|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	5	Cytoplasmic (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTTTCGTGAAGGAGATTCCAC	0.701		NA											3	9					0	0	0	0
TCN1	6947	broad.mit.edu	37	11	59631479	59631479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:59631479C>T	uc001noj.2	-	2	258	c.160G>A	c.(160-162)GCT>ACT	p.A54T		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	54					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATTGACAGCGCTGGTTCCC	0.418		NA											45	150					0	0	0	0
CPSF7	79869	broad.mit.edu	37	11	61188974	61188974	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:61188974G>C	uc001nrq.2	-	3	295	c.161C>G	c.(160-162)CCT>CGT	p.P54R	CPSF7_uc001nro.2_Missense_Mutation_p.P54R|CPSF7_uc001nrp.2_Missense_Mutation_p.P97R|CPSF7_uc001nrr.2_Missense_Mutation_p.P54R|CPSF7_uc001nrs.1_5'UTR|CPSF7_uc009ynp.2_Missense_Mutation_p.P54R	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	pre-mRNA cleavage factor I, 59 kDa subunit	54	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						CTGGCGAACAGGAGGAGGTGG	0.522		NA											19	79					0	0	0	0
VEGFB	7423	broad.mit.edu	37	11	64005048	64005048	+	Silent	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:64005048A>C	uc001nyw.2	+	6	607	c.567A>C	c.(565-567)GGA>GGC	p.G189G	VEGFB_uc001nyx.2_Missense_Mutation_p.T156P	NM_003377	NP_003368	P49765	VEGFB_HUMAN	vascular endothelial growth factor B precursor	189					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding				0						TGACCCCCGGACCTGCCGCTG	0.711		NA											5	6					0	0	0	0
PYGM	5837	broad.mit.edu	37	11	64525340	64525340	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:64525340C>G	uc001oax.3	-	5	1388	c.571G>C	c.(571-573)GAG>CAG	p.E191Q	PYGM_uc001oay.3_Missense_Mutation_p.E103Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	191					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CGGGCCTTCTCCCAGGGGTTG	0.607		NA											18	25					0	0	0	0
SPTBN2	6712	broad.mit.edu	37	11	66488701	66488701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:66488701G>A	uc001ojd.2	-	2	83	c.11C>T	c.(10-12)ACG>ATG	p.T4M		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	4	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGGTGACAGCGTGCTGCTCAT	0.602		NA											20	125					0	0	0	0
SSH3	54961	broad.mit.edu	37	11	67077772	67077772	+	Nonsense_Mutation	SNP	G	G	T	rs148598265		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67077772G>T	uc001okj.2	+	13	1823	c.1645G>T	c.(1645-1647)GAG>TAG	p.E549*	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Nonsense_Mutation_p.E403*	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	549					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCTCCTTGGAGCTGGAGAG	0.632		NA											13	188					4.38e-07	4.87e-07	1	0
PITPNM1	9600	broad.mit.edu	37	11	67267280	67267280	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67267280T>C	uc001olx.2	-	7	1274	c.1085A>G	c.(1084-1086)GAG>GGG	p.E362G	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.E362G|PITPNM1_uc001olz.2_Missense_Mutation_p.E362G	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	362					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GGGGAAGACCTCCTCACTGTC	0.592		NA											10	121					0	0	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816564	67816564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67816564C>T	uc001one.2	+	15	1798	c.1690C>T	c.(1690-1692)CAC>TAC	p.H564Y	TCIRG1_uc001ong.2_Missense_Mutation_p.H348Y|TCIRG1_uc001onh.2_Missense_Mutation_p.H266Y|TCIRG1_uc001oni.2_Missense_Mutation_p.H68Y|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	564	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						TGGCCAGAGGCACCGGCTGCT	0.657		NA											23	238					0	0	0	0
NCAPD3	23310	broad.mit.edu	37	11	134072795	134072795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:134072795A>G	uc001qhd.1	-	13	2137	c.1531T>C	c.(1531-1533)TCC>CCC	p.S511P	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	511					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTTGGTAGGAAAAAGCTTTA	0.348		NA											16	16					0	0	0	0
GDF3	9573	broad.mit.edu	37	12	7842822	7842822	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:7842822C>G	uc001qte.2	-	2	783	c.747G>C	c.(745-747)AGG>AGC	p.R249S		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	249					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						TGGCTGCTCTCCTTTTCCGAG	0.537		NA											20	59					0	0	0	0
SLC2A14	144195	broad.mit.edu	37	12	7980270	7980270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:7980270G>A	uc001qtk.2	-	12	1547	c.754C>T	c.(754-756)CGG>TGG	p.R252W	SLC2A14_uc001qtl.2_Missense_Mutation_p.R229W|SLC2A14_uc001qtm.2_Missense_Mutation_p.R229W|SLC2A14_uc010sgg.1_Missense_Mutation_p.R143W|SLC2A14_uc001qtn.2_Missense_Mutation_p.R252W|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.R267W	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	252	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		CCCCACAACCGCTGGAGGACT	0.507		NA											7	46					0	0	0	0
SLC2A3	6515	broad.mit.edu	37	12	8082459	8082459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:8082459G>A	uc001qtr.2	-	6	944	c.682C>T	c.(682-684)CGG>TGG	p.R228W	SLC2A3_uc001qts.2_3'UTR	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	228	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		CCCCACAACCGCTGGAGGACT	0.498		NA											12	89					0	0	0	0
TAS2R20	259295	broad.mit.edu	37	12	11150362	11150362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:11150362C>T	uc001qzm.2	-	1	113	c.113G>A	c.(112-114)AGA>AAA	p.R38K	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	38	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						GATCTTTTGTCTCTTGACCCA	0.378		NA											23	46					0	0	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183044	11183044	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:11183044C>G	uc001qzo.1	-	1	963	c.891G>C	c.(889-891)GTG>GTC	p.V297V	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	297	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						CCCAGTACCTCACTTGCCGCA	0.428		NA											48	182					0	0	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889205	18889205	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:18889205C>G	uc010sid.1	-	3	276	c.85G>C	c.(85-87)GAA>CAA	p.E29Q	PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_5'UTR|CAPZA3_uc001rdy.2_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	29					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTAATTTTTCAAGTAACCTC	0.353		NA											8	26					0	0	0	0
SENP1	29843	broad.mit.edu	37	12	48477537	48477537	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:48477537G>C	uc001rqx.2	-	6	835	c.389C>G	c.(388-390)TCA>TGA	p.S130*	SENP1_uc001rqw.2_Nonsense_Mutation_p.S130*|SENP1_uc001rqy.2_Translation_Start_Site|SENP1_uc001rqz.2_Translation_Start_Site|SENP1_uc009zkx.2_Nonsense_Mutation_p.S130*	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	130	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAAACTGTTTGATAATCCACT	0.313		NA											10	37					0	0	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54975892	54975892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:54975892G>A	uc001sgg.2	-	5	442	c.271C>T	c.(271-273)CAC>TAC	p.H91Y		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	91					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity				0						TGCCCCAGGTGATGTTCAACC	0.592		NA											12	27					0	0	0	0
LRP1	4035	broad.mit.edu	37	12	57538855	57538855	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:57538855G>A	uc001snd.2	+	5	1015	c.549G>A	c.(547-549)CCG>CCA	p.P183P	LRP1_uc010sre.1_Silent_p.P183P|LRP1_uc001snb.2_Silent_p.P183P|LRP1_uc001snc.1_Silent_p.P183P	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	183	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTGCAGCCGGATAACCGCT	0.572		NA											17	31					0	0	0	0
GRIP1	23426	broad.mit.edu	37	12	66990676	66990676	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:66990676C>T	uc001stk.2	-	2	328	c.87G>A	c.(85-87)CAG>CAA	p.Q29Q	GRIP1_uc010sta.1_Intron|GRIP1_uc001stm.2_Silent_p.Q29Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	29					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGCTTTGTCTGGCTGGCGG	0.448		NA											19	62					0	0	0	0
TMCC3	57458	broad.mit.edu	37	12	94975422	94975422	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:94975422T>A	uc001tdj.2	-	2	1089	c.971A>T	c.(970-972)CAG>CTG	p.Q324L	TMCC3_uc001tdi.2_Missense_Mutation_p.Q293L	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	324	Potential.					integral to membrane				ovary(1)|skin(1)	2						TTGCAGGGTCTGAGAAATAAA	0.348		NA											15	50					0	0	0	0
ACACB	32	broad.mit.edu	37	12	109673414	109673414	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:109673414G>C	uc001tob.2	+	33	4527	c.4408G>C	c.(4408-4410)GAA>CAA	p.E1470Q	ACACB_uc001toc.2_Missense_Mutation_p.E1470Q|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E136Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1470					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TTTGCAGAAAGAATTTCCCAA	0.328		NA											12	20					0	0	0	0
DTX1	1840	broad.mit.edu	37	12	113496163	113496163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:113496163G>A	uc001tuk.1	+	1	502	c.166G>A	c.(166-168)GCT>ACT	p.A56T		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	56	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GAAGGAGGACGCTCGCGGTTC	0.647		NA											35	89					0	0	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013807	117013807	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:117013807C>G	uc009zwk.1	+	2	214	c.60C>G	c.(58-60)GTC>GTG	p.V20V		NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3	20					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule					0						TAGAAGATGTCCGACTTATTC	0.537		NA											17	96					0	0	0	0
DNAH10	196385	broad.mit.edu	37	12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:124333280G>A	uc001uft.3	+	33	5624	c.5599G>A	c.(5599-5601)GTG>ATG	p.V1867M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1867	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443		NA											4	25					0	0	0	0
SACS	26278	broad.mit.edu	37	13	23913048	23913048	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:23913048A>C	uc001uon.2	-	10	5556	c.4967T>G	c.(4966-4968)GTG>GGG	p.V1656G	SACS_uc001uoo.2_Missense_Mutation_p.V1509G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1656					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTCACTCACTTTTGCTTC	0.398		NA											16	41					0	0	0	0
KL	9365	broad.mit.edu	37	13	33590903	33590903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:33590903C>G	uc001uus.2	+	1	333	c.325C>G	c.(325-327)CTG>GTG	p.L109V	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	109	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAACGCCAGTCTGCCGTTGGG	0.711		NA											4	23					0	0	0	0
FARP1	10160	broad.mit.edu	37	13	99092944	99092944	+	Missense_Mutation	SNP	G	G	A	rs145597966	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:99092944G>A	uc001vnj.2	+	24	2986	c.2650G>A	c.(2650-2652)GCG>ACG	p.A884T	FARP1_uc001vnh.2_Missense_Mutation_p.A915T	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	884					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGCCACCGCGGCTGACCA	0.627		NA											7	64					0	0	0	0
C13orf39	196541	broad.mit.edu	37	13	103338495	103338495	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:103338495G>A	uc001vpj.2	-	4	687	c.681C>T	c.(679-681)TTC>TTT	p.F227F	C13orf39_uc001vpk.2_Silent_p.F227F	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	hypothetical protein LOC196541	227							methyltransferase activity				0						AGTCGGTGCTGAACCTGAATT	0.443		NA											12	42					0	0	0	0
COCH	1690	broad.mit.edu	37	14	31348691	31348691	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:31348691G>C	uc001wqr.2	+	6	516	c.436G>C	c.(436-438)GGT>CGT	p.G146R	COCH_uc001wqp.2_Missense_Mutation_p.G146R|COCH_uc001wqq.3_Missense_Mutation_p.G146R|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	146					sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCCACCAACAGGTATGAACTA	0.383		NA											9	58					0	0	0	0
NIN	51199	broad.mit.edu	37	14	51224285	51224285	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:51224285G>A	uc001wym.2	-	18	3654	c.3463C>T	c.(3463-3465)CTG>TTG	p.L1155L	NIN_uc001wyi.2_Silent_p.L1155L|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Silent_p.L1161L|NIN_uc001wyo.2_Silent_p.L1155L	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1155					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GTACTTCCCAGGTCCCGGACC	0.478		NA	T	PDGFRB	MPD								23	208					0	0	0	0
SIX6	4990	broad.mit.edu	37	14	60976681	60976681	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:60976681A>T	uc001xfa.3	+	1	744	c.565A>T	c.(565-567)AAG>TAG	p.K189*		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	189					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGCTGCAGCCAAGAACAGGTC	0.647		NA											6	12					0	0	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055505	72055505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:72055505G>C	uc001xms.2	+	2	1264	c.916G>C	c.(916-918)GAA>CAA	p.E306Q	SIPA1L1_uc001xmt.2_Missense_Mutation_p.E306Q|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E306Q|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E306Q	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	306					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAGGTGAAGAACTTGGGAA	0.433		NA											13	47					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92461767	92461767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:92461767G>A	uc001xzy.2	-	14	5773	c.4985C>T	c.(4984-4986)TCT>TTT	p.S1662F	TRIP11_uc010auf.1_Missense_Mutation_p.S1398F	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1662	Potential.			QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135).	transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTGTTCCTGAGAGACAGAAAG	0.458		NA	T	PDGFRB	AML								24	23					0	0	0	0
DLK1	8788	broad.mit.edu	37	14	101201194	101201194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:101201194G>A	uc001yhs.3	+	5	1266	c.1113G>A	c.(1111-1113)ATG>ATA	p.M371I	DLK1_uc001yhu.3_Missense_Mutation_p.M298I	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	371	Cytoplasmic (Potential).				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				AGATCGACATGACCACCTTCA	0.562		NA											35	97					0	0	0	0
NDN	4692	broad.mit.edu	37	15	23932088	23932088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:23932088G>A	uc001ywk.2	-	1	363	c.277C>T	c.(277-279)CCA>TCA	p.P93S		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	93					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGGGGCTGGCGGTGCCGGG	0.697		NA							Prader-Willi_syndrome				8	31					0	0	0	0
C15orf55	256646	broad.mit.edu	37	15	34649168	34649168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:34649168G>T	uc001zif.2	+	7	3030	c.2875G>T	c.(2875-2877)GGG>TGG	p.G959W	C15orf55_uc010ucc.1_Missense_Mutation_p.G987W|C15orf55_uc010ucd.1_Missense_Mutation_p.G977W	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	959						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TTACACAACTGGGACTCCCAA	0.483		NA	T	BRD3|BRD4	lethal midline carcinoma								15	26					4.93e-13	5.58e-13	1	0
USP8	9101	broad.mit.edu	37	15	50774167	50774167	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:50774167G>C	uc001zym.3	+	12	2208	c.1708G>C	c.(1708-1710)GAT>CAT	p.D570H	USP8_uc001zyk.1_Missense_Mutation_p.D271H|USP8_uc001zyl.3_Missense_Mutation_p.D570H|USP8_uc001zyn.3_Missense_Mutation_p.D570H|USP8_uc010ufh.1_Missense_Mutation_p.D493H|USP8_uc010bev.1_Missense_Mutation_p.D199H	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	570					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTGTAGAAGATAGGGGGAA	0.313		NA											10	29					0	0	0	0
USP8	9101	broad.mit.edu	37	15	50791262	50791262	+	Nonsense_Mutation	SNP	C	C	T	rs142928952		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:50791262C>T	uc001zym.3	+	21	3834	c.3334C>T	c.(3334-3336)CGA>TGA	p.R1112*	USP8_uc001zyl.3_Nonsense_Mutation_p.R1112*|USP8_uc001zyn.3_Nonsense_Mutation_p.R1112*|USP8_uc010ufh.1_Nonsense_Mutation_p.R1006*|USP8_uc001zyp.3_Nonsense_Mutation_p.R279*	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1112					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTGGGACCACGAGTAACTGA	0.368		NA											12	33					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54916087	54916087	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:54916087G>T	uc002ack.2	+	30	6294	c.6294G>T	c.(6292-6294)AAG>AAT	p.K2098N	UNC13C_uc002acm.2_Missense_Mutation_p.K19N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2098	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGACAAGAAGAGAAAACAAG	0.403		NA											19	45					8.28e-16	9.42e-16	1	0
NEDD4	4734	broad.mit.edu	37	15	56207863	56207863	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:56207863G>A	uc002adj.2	-	1	1467	c.1167C>T	c.(1165-1167)GAC>GAT	p.D389D	NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Silent_p.D389D|NEDD4_uc010ugj.1_Silent_p.D389D|NEDD4_uc010bfm.2_Silent_p.D389D|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	389					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGTTTCACAGTCTAATGTAG	0.363		NA											17	38					0	0	0	0
CCDC33	80125	broad.mit.edu	37	15	74559050	74559050	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:74559050G>A	uc002axo.2	+	4	745	c.351G>A	c.(349-351)AAG>AAA	p.K117K	CCDC33_uc002axp.2_5'UTR	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	320	C2.						protein binding			ovary(3)|skin(2)	5						ACAACAGAAAGAAACAGGAGT	0.473		NA											29	107					0	0	0	0
C15orf27	123591	broad.mit.edu	37	15	76467994	76467994	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:76467994G>A	uc002bbq.2	+	8	902	c.747G>A	c.(745-747)ACG>ACA	p.T249T	C15orf27_uc010bkp.2_Silent_p.T65T|C15orf27_uc002bbr.2_Silent_p.T65T	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	249	Potential.					integral to membrane					0						AGAGGCTGACGCAGATCTGTC	0.512		NA											14	55					0	0	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79067056	79067056	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:79067056G>A	uc002bej.3	-	12	1997	c.1786C>T	c.(1786-1788)CGC>TGC	p.R596C	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.R596C	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	596	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						AAGGAGGGGCGGCCAGCAGGG	0.632		NA											10	39					0	0	0	0
AP3B2	8120	broad.mit.edu	37	15	83335612	83335612	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:83335612C>T	uc010uoh.1	-	15	1916	c.1739G>A	c.(1738-1740)CGC>CAC	p.R580H	AP3B2_uc010uoi.1_Missense_Mutation_p.R580H|AP3B2_uc010uoj.1_Missense_Mutation_p.R548H|AP3B2_uc010uog.1_Missense_Mutation_p.R216H	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	580					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGGGTGAAGCGCGCCCGGTC	0.597		NA											17	66					0	0	0	0
TPSD1	23430	broad.mit.edu	37	16	1306640	1306640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:1306640C>T	uc002clb.1	+	2	215	c.206C>T	c.(205-207)TCC>TTC	p.S69F	TPSD1_uc010brm.1_Missense_Mutation_p.S7F	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				TGCGGGGGCTCCCTCATCCAC	0.687		NA											22	57					0	0	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812845	1812845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:1812845G>A	uc002cmk.2	+	16	1853	c.1733G>A	c.(1732-1734)CGC>CAC	p.R578H	MAPK8IP3_uc002cml.2_Missense_Mutation_p.R572H|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.R579H	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	578					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						AGCTTCAGCCGCCTCTTCAGC	0.677		NA											28	66					0	0	0	0
CREBBP	1387	broad.mit.edu	37	16	3777767	3777767	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:3777767G>A	uc002cvv.2	-	31	7485	c.7281C>T	c.(7279-7281)GTC>GTT	p.V2427V	CREBBP_uc002cvw.2_Silent_p.V2389V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2427					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTCCCCGACCAGGGACA	0.562		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				36	131					0	0	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857127	9857127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:9857127G>C	uc002czo.3	-	13	4822	c.4274C>G	c.(4273-4275)TCG>TGG	p.S1425W	GRIN2A_uc010uym.1_Missense_Mutation_p.S1425W|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1425	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1425L(1)		skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGCTCCGAAATATACAC	0.473		NA											17	34					0	0	0	0
MYH11	4629	broad.mit.edu	37	16	15832485	15832485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:15832485C>T	uc002ddy.2	-	24	3165	c.3058G>A	c.(3058-3060)GAA>AAA	p.E1020K	MYH11_uc002ddv.2_Missense_Mutation_p.E1027K|MYH11_uc002ddw.2_Missense_Mutation_p.E1020K|MYH11_uc002ddx.2_Missense_Mutation_p.E1027K|MYH11_uc010bvg.2_Missense_Mutation_p.E852K	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1020	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTGGCCTTTTCTTCCTCTTCT	0.358		NA	T	CBFB	AML								12	71					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20981224	20981224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:20981224G>A	uc010vbe.1	-	52	8348	c.8348C>T	c.(8347-8349)TCG>TTG	p.S2783L	DNAH3_uc010vbd.1_Missense_Mutation_p.S218L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2783	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTCACCAGCGAGATGTCGGC	0.592		NA											35	86					0	0	0	0
CD19	930	broad.mit.edu	37	16	28948971	28948971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:28948971G>A	uc002drs.2	+	11	1461	c.1399G>A	c.(1399-1401)GAG>AAG	p.E467K	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.E467K	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	467	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						CGAGGATGAAGAGCTGACCCA	0.567		NA											19	35					0	0	0	0
KCTD13	253980	broad.mit.edu	37	16	29918300	29918300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:29918300C>T	uc002duv.2	-	6	1074	c.883G>A	c.(883-885)GGG>AGG	p.G295R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	295					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						TCATCCTCCCCGCGGCCAGCC	0.637		NA											33	80					0	0	0	0
SALL1	6299	broad.mit.edu	37	16	51174819	51174819	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:51174819C>T	uc010vgs.1	-	2	1345	c.1314G>A	c.(1312-1314)GCG>GCA	p.A438A	SALL1_uc010vgr.1_Silent_p.A341A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	438					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTACTTTTCGCTTCAAAGG	0.488		NA											33	95					0	0	0	0
CKLF	51192	broad.mit.edu	37	16	66597116	66597116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:66597116G>A	uc002eow.2	+	3	476	c.329G>A	c.(328-330)GGA>GAA	p.G110E	CKLF_uc002eox.1_Missense_Mutation_p.G110E|CKLF_uc002eot.2_Intron|CKLF_uc002eou.2_Missense_Mutation_p.G57E|CKLF_uc002eov.2_Intron	NM_016951	NP_058647	Q9UBR5	CKLF_HUMAN	chemokine-like factor isoform a	110	Helical; (Potential).|MARVEL.				cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell	extracellular space|integral to membrane	chemokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ACAGTTGGTGGAGGGGTAAGT	0.368		NA											8	35					0	0	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66766353	66766353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:66766353G>C	uc002eqb.1	-	7	849	c.818C>G	c.(817-819)TCA>TGA	p.S273*	DYNC1LI2_uc010vis.1_Nonsense_Mutation_p.S196*|DYNC1LI2_uc010vit.1_Nonsense_Mutation_p.S273*|DYNC1LI2_uc010viu.1_Nonsense_Mutation_p.S234*	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	273					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTCTTTCACTGATGTGTAAAT	0.378		NA											11	17					0	0	0	0
SLC12A4	6560	broad.mit.edu	37	16	67979293	67979293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:67979293C>G	uc002euz.2	-	22	3152	c.3011G>C	c.(3010-3012)CGG>CCG	p.R1004P	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.R998P|SLC12A4_uc010vkh.1_Missense_Mutation_p.R973P|SLC12A4_uc010vki.1_Missense_Mutation_p.R998P|SLC12A4_uc010vkj.1_Missense_Mutation_p.R1006P|SLC12A4_uc002eva.2_Missense_Mutation_p.R1004P	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	1004	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCAGCTCCCGGAAATTGTC	0.572		NA											28	58					0	0	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68344297	68344297	+	Silent	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:68344297A>G	uc002evw.1	-	2	431	c.412T>C	c.(412-414)TTG>CTG	p.L138L	PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	138					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGTCTAACAACTGAAAGCCC	0.627		NA											10	12					0	0	0	0
YWHAE	7531	broad.mit.edu	37	17	1303386	1303386	+	Missense_Mutation	SNP	G	G	C	rs11552915		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:1303386G>C	uc002fsj.2	-	1	171	c.19C>G	c.(19-21)CTG>GTG	p.L7V	YWHAE_uc002fsk.2_Translation_Start_Site|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	7					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TGGTACACCAGATCCTCTCGA	0.662		NA											19	99					0	0	0	0
MNT	4335	broad.mit.edu	37	17	2298449	2298449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:2298449C>T	uc002fur.2	-	2	625	c.373G>A	c.(373-375)GGC>AGC	p.G125S		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	125					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCGGGGGCGCCAACCAGGGCC	0.542		NA											4	7					0	0	0	0
ASPA	443	broad.mit.edu	37	17	3385074	3385074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:3385074G>C	uc010ckg.2	+	3	505	c.414G>C	c.(412-414)CAG>CAC	p.Q138H	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.Q138H	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	TTTTAATTCAGATGTTTCATT	0.318		NA											3	22					0	0	0	0
PITPNM3	83394	broad.mit.edu	37	17	6373604	6373604	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:6373604G>A	uc002gdd.3	-	13	1900	c.1749C>T	c.(1747-1749)GAC>GAT	p.D583D	PITPNM3_uc010cln.2_Silent_p.D547D|PITPNM3_uc010clm.2_Silent_p.D66D|PITPNM3_uc002gdc.3_Silent_p.D174D	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	583	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGCCACCACGTCTGTGGACT	0.652		NA											5	16					0	0	0	0
C17orf74	201243	broad.mit.edu	37	17	7329885	7329885	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7329885C>T	uc002ggw.2	+	3	648	c.575C>T	c.(574-576)CCC>CTC	p.P192L	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	192						integral to membrane					0		Prostate(122;0.157)				GACAACCTGCCCTTCCCGTAT	0.597		NA											33	157					0	0	0	0
C17orf74	201243	broad.mit.edu	37	17	7330746	7330746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7330746C>T	uc002ggw.2	+	3	1509	c.1436C>T	c.(1435-1437)TCA>TTA	p.S479L	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	479						integral to membrane					0		Prostate(122;0.157)				AGGTCCAGCTCACTGCCACCG	0.632		NA											13	32					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7578263G>A	uc002gim.2	-	6	780	c.586C>T	c.(586-588)CGA>TGA	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	196	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	44					0	0	0	0
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7696466C>T	uc002giu.1	+	47	7526	c.7512C>T	c.(7510-7512)CTC>CTT	p.L2504L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2504	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517		NA											22	84					0	0	0	0
ALOXE3	59344	broad.mit.edu	37	17	8021162	8021162	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:8021162C>T	uc010cnr.2	-	2	517	c.147G>A	c.(145-147)TCG>TCA	p.S49S	ALOXE3_uc002gka.2_Silent_p.S205S|ALOXE3_uc010vuo.1_Silent_p.S181S|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	49	PLAT.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						TTGTACTCACCGATCCAGGGG	0.612		NA											4	24					0	0	0	0
WDR16	146845	broad.mit.edu	37	17	9545105	9545105	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:9545105C>G	uc002gly.2	+	13	1709	c.1640C>G	c.(1639-1641)TCG>TGG	p.S547W	WDR16_uc002glz.2_Missense_Mutation_p.S479W|WDR16_uc010coc.2_Missense_Mutation_p.S557W	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	547	WD 10.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGTCTGGGTCGATAAATGGC	0.458		NA											20	71					0	0	0	0
MYH3	4621	broad.mit.edu	37	17	10547749	10547749	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:10547749G>A	uc002gmq.1	-	13	1406	c.1329C>T	c.(1327-1329)CGC>CGT	p.R443R		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	443	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GCTGGTTAATGCGAGTGACCA	0.398		NA											22	68					0	0	0	0
MYOCD	93649	broad.mit.edu	37	17	12642624	12642624	+	Silent	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:12642624A>T	uc002gnn.2	+	7	995	c.696A>T	c.(694-696)ATA>ATT	p.I232I	MYOCD_uc002gno.2_Silent_p.I232I|MYOCD_uc002gnp.1_Silent_p.I136I	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	232					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCACCCCCATAGCCGTGCATG	0.587		NA											32	39					0	0	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:21318895C>T	uc002gyv.1	+	3	946	c.241C>T	c.(241-243)CGG>TGG	p.R81W		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	81	Helical; Name=M1; (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CATCCGCTGGCGGTACATGCT	0.577		NA								Prostate(3;0.18)			9	89					0	0	0	0
WSB1	26118	broad.mit.edu	37	17	25628934	25628934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:25628934G>T	uc002gzd.1	+	2	477	c.161G>T	c.(160-162)GGA>GTA	p.G54V	WSB1_uc010vzy.1_Missense_Mutation_p.G54V|WSB1_uc010vzz.1_Missense_Mutation_p.G23V|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	54	WD 1.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGGTCACAAGGACATCGCACA	0.413		NA											35	201					3.76e-14	4.27e-14	1	0
TMEM99	147184	broad.mit.edu	37	17	38991082	38991082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:38991082C>T	uc002hvj.1	+	3	621	c.314C>T	c.(313-315)TCG>TTG	p.S105L		NM_145274	NP_660317	Q8N816	TMM99_HUMAN	transmembrane protein 99 precursor	105	Helical; (Potential).					integral to membrane				skin(1)	1		Breast(137;0.000301)				GGTGTTGGCTCGTGGTTGCTC	0.468		NA											62	129					0	0	0	0
KCTD2	23510	broad.mit.edu	37	17	73049121	73049121	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:73049121A>T	uc002jmp.2	+	3	528	c.461A>T	c.(460-462)GAA>GTA	p.E154V	KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	potassium channel tetramerisation domain	154	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0	all_lung(278;0.226)					GTGCTGGAGGAAGCGGAGTTT	0.463		NA											20	21					0	0	0	0
CANT1	124583	broad.mit.edu	37	17	76991155	76991155	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:76991155C>T	uc002jwn.2	-	5	1219	c.780G>A	c.(778-780)GAG>GAA	p.E260E	CANT1_uc002jwk.2_Silent_p.E260E|CANT1_uc002jwj.2_Silent_p.E260E|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	260	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACACCCAGTTCTCGTGGTCCA	0.652		NA	T	ETV4	prostate								6	13					0	0	0	0
SLC25A10	1468	broad.mit.edu	37	17	79673961	79673961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:79673961C>T	uc010wut.1	+	4	496	c.371C>T	c.(370-372)GCG>GTG	p.A124V	MRPL12_uc002kbh.1_Missense_Mutation_p.A124V	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	Error:Variant_position_missing_in_Q9UBX3_after_alignment					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	ATCCCCATAGCGAAAGAACGG	0.562		NA											17	13					0	0	0	0
COLEC12	81035	broad.mit.edu	37	18	335145	335145	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:335145C>A	uc002kkm.2	-	6	1628	c.1413G>T	c.(1411-1413)GAG>GAT	p.E471D		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	471	Collagen-like 1.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTCCCCCTTCTCTCCTTTCT	0.632		NA											14	42					0.00185496	0.00199474	1	0
ZNF521	25925	broad.mit.edu	37	18	22806343	22806343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:22806343G>C	uc002kvk.2	-	4	1786	c.1539C>G	c.(1537-1539)TTC>TTG	p.F513L	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.F513L|ZNF521_uc002kvl.2_Missense_Mutation_p.F293L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	513	C2H2-type 12.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGGACAAAAGAATGCATTAC	0.458		NA	T	PAX5	ALL								21	51					0	0	0	0
CXXC1	30827	broad.mit.edu	37	18	47810844	47810844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:47810844G>A	uc002leq.3	-	9	1842	c.1109C>T	c.(1108-1110)GCG>GTG	p.A370V	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.A227V|CXXC1_uc002ler.3_Missense_Mutation_p.A374V|CXXC1_uc010doy.2_Missense_Mutation_p.A370V|CXXC1_uc002les.2_Missense_Mutation_p.A370V	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	370					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGGCAGTGACGCAGGGTCCTT	0.597		NA											13	120					0	0	0	0
ME2	4200	broad.mit.edu	37	18	48447048	48447048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:48447048C>G	uc002ley.2	+	9	1118	c.862C>G	c.(862-864)CTA>GTA	p.L288V	ME2_uc010dpd.2_Missense_Mutation_p.L288V	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	288					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TGCAGTAGCTCTAGCAGGTCT	0.348		NA											40	50					0	0	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143901	55143901	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:55143901C>T	uc002lgo.2	+	2	1493	c.1461C>T	c.(1459-1461)GAC>GAT	p.D487D		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	487					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGTGGCAAGACGATCTGAGCA	0.572		NA											7	35					0	0	0	0
DOK6	220164	broad.mit.edu	37	18	67365664	67365664	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:67365664C>G	uc002lkl.2	+	5	624	c.434C>G	c.(433-435)CCT>CGT	p.P145R		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	145	IRS-type PTB.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TATCTTATGCCTACACCAAAC	0.398		NA											11	37					0	0	0	0
DUS3L	56931	broad.mit.edu	37	19	5785684	5785684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:5785684A>T	uc002mdc.2	-	11	1778	c.1681T>A	c.(1681-1683)TGG>AGG	p.W561R	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.W319R|DUS3L_uc010duk.2_Missense_Mutation_p.W226R	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	561					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						TCCGAGCCCCAGTGCTCCAGG	0.677		NA											6	18					0	0	0	0
TUBB4	10382	broad.mit.edu	37	19	6495873	6495873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:6495873G>A	uc002mfg.1	-	4	744	c.637C>T	c.(637-639)CGC>TGC	p.R213C	TUBB4_uc002mff.1_Missense_Mutation_p.R141C|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	213					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		TTGAGGGTGCGGAAACAGATG	0.627		NA											31	105					0	0	0	0
STXBP2	6813	broad.mit.edu	37	19	7708073	7708073	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:7708073C>G	uc002mha.3	+	13	1094	c.1049C>G	c.(1048-1050)GCA>GGA	p.A350G	STXBP2_uc002mhb.3_Missense_Mutation_p.A347G|STXBP2_uc010dvj.2_Intron|STXBP2_uc010xjr.1_Missense_Mutation_p.A361G|STXBP2_uc010dvk.2_Missense_Mutation_p.A318G|STXBP2_uc002mhc.3_Missense_Mutation_p.A118G|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	350					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1						CTGCATCTAGCAGATGATTGT	0.587		NA											9	37					0	0	0	0
ZNF443	10224	broad.mit.edu	37	19	12541320	12541320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:12541320C>T	uc002mtu.2	-	4	1864	c.1666G>A	c.(1666-1668)GGA>AGA	p.G556R		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	556					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						GGCTTCTCTCCAGAGTGAATT	0.388		NA											11	49					0	0	0	0
DCAF15	90379	broad.mit.edu	37	19	14070284	14070284	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:14070284G>A	uc002mxt.2	+	7	1218	c.1212G>A	c.(1210-1212)CCG>CCA	p.P404P	DCAF15_uc002mxu.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	404										central_nervous_system(1)	1						GGACGGAGCCGGAGGATGGTG	0.687		NA											25	49					0	0	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276316	15276316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:15276316C>T	uc002nan.2	-	31	5754	c.5678G>A	c.(5677-5679)CGA>CAA	p.R1893Q		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1893	ANK 2.|Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGAGCGGTTTCGGATGAGAAT	0.592		NA											6	22					0	0	0	0
CEBPG	1054	broad.mit.edu	37	19	33870422	33870422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:33870422A>T	uc002nup.2	+	2	566	c.277A>T	c.(277-279)AGA>TGA	p.R93*		NM_001806	NP_001797	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein gamma	93					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0	Esophageal squamous(110;0.137)					CACACTGCAGAGAGTCAATCA	0.438		NA											9	12					0	0	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591744	38591744	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:38591744C>G	uc002ohk.2	+	6	2416	c.1907C>G	c.(1906-1908)TCC>TGC	p.S636C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	636	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCAGAGCTCCGAGGAGGAG	0.607		NA											8	28					0	0	0	0
LIPE	3991	broad.mit.edu	37	19	42912238	42912238	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:42912238A>G	uc002otr.2	-	4	1823	c.1546T>C	c.(1546-1548)TTT>CTT	p.F516L	uc010eif.1_Intron|LIPE_uc002ots.1_Missense_Mutation_p.F261L	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	516					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TCGATGGCAAAGCGGCCGCTG	0.627		NA											14	74					0	0	0	0
PPFIA3	8541	broad.mit.edu	37	19	49636571	49636571	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:49636571G>A	uc002pmr.2	+	9	1436	c.1104G>A	c.(1102-1104)GCG>GCA	p.A368A	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.A292A|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.A236A	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	368	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGCAGAAAGCGGAGACCTTGC	0.677		NA											8	44					0	0	0	0
SPIB	6689	broad.mit.edu	37	19	50925756	50925756	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:50925756G>A	uc002psd.2	+	3	103	c.78G>A	c.(76-78)CTG>CTA	p.L26L	SPIB_uc002pse.2_Silent_p.L26L|SPIB_uc010ycc.1_Nonsense_Mutation_p.W7*	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	26	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCTATGACCTGGACAGCTGCA	0.577		NA											16	21					0	0	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994964	51994964	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:51994964C>T	uc002pwx.1	-	8	1775	c.1719G>A	c.(1717-1719)GCG>GCA	p.A573A	SIGLEC12_uc002pww.1_Silent_p.A455A|SIGLEC12_uc010eoy.1_Silent_p.A300A	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	573	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTGAGGCCTCGCTTTGTGGA	0.597		NA											16	159					0	0	0	0
ZNF615	284370	broad.mit.edu	37	19	52497522	52497522	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:52497522G>A	uc002pye.1	-	6	1099	c.807C>T	c.(805-807)TTC>TTT	p.F269F	ZNF615_uc002pyf.1_Silent_p.F280F|ZNF615_uc002pyg.1_Silent_p.F161F|ZNF615_uc002pyh.1_Silent_p.F280F|ZNF615_uc010epi.1_Silent_p.F276F|ZNF615_uc010ydg.1_Silent_p.F274F	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	269	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATTTCTTGAGGAAGGTTTTGT	0.413		NA											24	220					0	0	0	0
ZNF28	7576	broad.mit.edu	37	19	53303120	53303120	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53303120C>G	uc002qad.2	-	4	2098	c.1978G>C	c.(1978-1980)GAG>CAG	p.E660Q	ZNF28_uc002qac.2_Missense_Mutation_p.E607Q|ZNF28_uc010eqe.2_Missense_Mutation_p.E606Q	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TAAGGTTTCTCTCCACTATGA	0.423		NA											26	231					0	0	0	0
ZNF415	55786	broad.mit.edu	37	19	53612314	53612314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53612314G>T	uc002qax.2	-	7	1477	c.1128C>A	c.(1126-1128)TAC>TAA	p.Y376*	ZNF415_uc002qat.2_Nonsense_Mutation_p.Y340*|ZNF415_uc002qaw.2_Nonsense_Mutation_p.Y328*|ZNF415_uc010yds.1_Nonsense_Mutation_p.Y328*|ZNF415_uc010ydt.1_Nonsense_Mutation_p.Y328*|ZNF415_uc002qau.2_Nonsense_Mutation_p.Y315*|ZNF415_uc002qav.2_Nonsense_Mutation_p.Y340*|ZNF415_uc002qba.2_Nonsense_Mutation_p.Y98*|ZNF415_uc002qay.2_Nonsense_Mutation_p.Y315*|ZNF415_uc002qaz.2_Nonsense_Mutation_p.Y376*	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	376	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		CTTTACATGTGTAAGGTTTCT	0.398		NA											40	41					5.72e-15	6.5e-15	1	0
ZNF765	91661	broad.mit.edu	37	19	53912281	53912281	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53912281G>A	uc010ydx.1	+	6	1800	c.1473G>A	c.(1471-1473)CAG>CAA	p.Q491Q	ZNF765_uc002qbm.2_Silent_p.Q491Q|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		ATACTGGACAGAAACCTTACA	0.378		NA											13	98					0	0	0	0
ALLC	55821	broad.mit.edu	37	2	3749215	3749215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:3749215C>T	uc010ewt.2	+	11	1125	c.964C>T	c.(964-966)CCA>TCA	p.P322S	ALLC_uc002qyf.2_Missense_Mutation_p.P93S	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	341							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACCACTGCTTCCAGTGACCAA	0.488		NA								HNSCC(21;0.051)			6	13					0	0	0	0
ZNF513	130557	broad.mit.edu	37	2	27601470	27601470	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:27601470C>T	uc002rkk.2	-	3	863	c.663G>A	c.(661-663)CTG>CTA	p.L221L	ZNF513_uc002rkj.2_Silent_p.L159L	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	221	C2H2-type 3.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCGCCTCAGGTTGCCCA	0.682		NA											15	46					0	0	0	0
BIRC6	57448	broad.mit.edu	37	2	32724766	32724766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:32724766C>G	uc010ezu.2	+	46	8755	c.8621C>G	c.(8620-8622)TCA>TGA	p.S2874*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2874					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ATCACTTGCTCAGACAAAGTA	0.433		NA											44	123					0	0	0	0
FANCL	55120	broad.mit.edu	37	2	58388764	58388764	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:58388764T>C	uc002rzw.3	-	12	980	c.913A>G	c.(913-915)ATG>GTG	p.M305V	FANCL_uc002rzx.3_Missense_Mutation_p.M310V|FANCL_uc010fce.2_Missense_Mutation_p.M277V|FANCL_uc010fcf.1_Missense_Mutation_p.M246V	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	305					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CCACAATCCATAGTAAAATCC	0.264		NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				2	19					0	0	0	0
POLR1A	25885	broad.mit.edu	37	2	86267597	86267597	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:86267597C>T	uc002sqs.2	-	25	4037	c.3658G>A	c.(3658-3660)GGA>AGA	p.G1220R	POLR1A_uc010ytb.1_Missense_Mutation_p.G586R|POLR1A_uc002sqt.1_Missense_Mutation_p.G243R	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1220					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GAGGGCTCTCCGATGCTCTGG	0.627		NA											11	41					0	0	0	0
LONRF2	164832	broad.mit.edu	37	2	100916183	100916183	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:100916183C>T	uc002tal.3	-	5	1903	c.1263G>A	c.(1261-1263)AAG>AAA	p.K421K	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	421					proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						ACTGACCTTTCTTGGGAATTT	0.398		NA											22	68					0	0	0	0
SLC5A7	60482	broad.mit.edu	37	2	108608589	108608589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:108608589A>G	uc002tdv.2	+	3	482	c.206A>G	c.(205-207)AAT>AGT	p.N69S	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.N69S|SLC5A7_uc010ywn.1_5'UTR	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	69	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	GGGTATATCAATGGCACAGCT	0.403		NA											16	24					0	0	0	0
CCDC93	54520	broad.mit.edu	37	2	118758500	118758500	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:118758500G>C	uc002tlj.2	-	4	386	c.260C>G	c.(259-261)TCA>TGA	p.S87*	CCDC93_uc010fld.1_Nonsense_Mutation_p.S87*	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	87										large_intestine(1)|ovary(1)	2						AATTTTTTCTGACAGAGCTCT	0.463		NA											14	29					0	0	0	0
LIMS2	55679	broad.mit.edu	37	2	128412466	128412466	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:128412466T>C	uc002tpa.2	-	3	342	c.176A>G	c.(175-177)GAA>GGA	p.E59G	LIMS2_uc002tox.2_Missense_Mutation_p.E83G|LIMS2_uc010fmb.2_5'UTR|LIMS2_uc002toy.2_Missense_Mutation_p.E54G|LIMS2_uc010yzm.1_Missense_Mutation_p.E81G|LIMS2_uc002toz.2_Missense_Mutation_p.E54G|LIMS2_uc002tpb.2_Missense_Mutation_p.E54G	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	59	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTTCCGGCCTTCAAACTGCAA	0.582		NA											3	23					0	0	0	0
ACVR1C	130399	broad.mit.edu	37	2	158390507	158390507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:158390507C>T	uc002tzk.3	-	9	1648	c.1405G>A	c.(1405-1407)GGA>AGA	p.G469R	ACVR1C_uc002tzl.3_Missense_Mutation_p.G389R|ACVR1C_uc010fof.2_Missense_Mutation_p.G312R|ACVR1C_uc010foe.2_Missense_Mutation_p.G419R	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	469	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						CGGGCCGCTCCGTTGGCATAC	0.388		NA											17	109					0	0	0	0
TANC1	85461	broad.mit.edu	37	2	160086120	160086120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:160086120G>A	uc002uag.2	+	27	4457	c.4183G>A	c.(4183-4185)GAG>AAG	p.E1395K	TANC1_uc010zcm.1_Silent_p.K1388K|TANC1_uc010fon.2_Missense_Mutation_p.E239K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1395	TPR 3.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						TGACCTGCAAGAGGCTGTGAA	0.473		NA											9	40					0	0	0	0
LASS6	253782	broad.mit.edu	37	2	169417810	169417810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:169417810C>G	uc002ueb.1	+	3	509	c.385C>G	c.(385-387)CTG>GTG	p.L129V	LASS6_uc002uec.1_Missense_Mutation_p.L129V	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	129	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1						GCCAAGCACGCTGACGAGGTT	0.448		NA											15	100					0	0	0	0
DCAF17	80067	broad.mit.edu	37	2	172314572	172314572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:172314572C>A	uc002ugx.2	+	7	948	c.719C>A	c.(718-720)ACC>AAC	p.T240N	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.T240N|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Intron	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	240	Helical; (Potential).					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0						AGCTTCCAAACCATCGCTGAA	0.388		NA											81	231					1.22e-31	1.4e-31	1	0
TTN	7273	broad.mit.edu	37	2	179434801	179434801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179434801C>G	uc010zfg.1	-	275	68578	c.68354G>C	c.(68353-68355)AGA>ACA	p.R22785T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16480T|TTN_uc010zfi.1_Missense_Mutation_p.R16413T|TTN_uc010zfj.1_Missense_Mutation_p.R16288T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23712							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)			CTTATGGCATCTTGTCCATCT	0.423		NA											3	141					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179474959	179474959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179474959C>T	uc010zfg.1	-	220	43814	c.43590G>A	c.(43588-43590)ATG>ATA	p.M14530I	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M8225I|TTN_uc010zfi.1_Missense_Mutation_p.M8158I|TTN_uc010zfj.1_Missense_Mutation_p.M8033I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15457							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)			TCTCACCAGACATGACTGGTA	0.443		NA											144	169					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179616442	179616442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179616442G>A	uc002unb.2	-	46	10909	c.10685C>T	c.(10684-10686)TCT>TTT	p.S3562F	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	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)			TAAGCTGGAAGAGTGATGGTG	0.423		NA											41	101					0	0	0	0
COL3A1	1281	broad.mit.edu	37	2	189864617	189864617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:189864617C>G	uc002uqj.1	+	32	2396	c.2279C>G	c.(2278-2280)CCA>CGA	p.P760R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	760	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAGATGGCCCAAGGGTGAGT	0.438		NA											3	19					0	0	0	0
CASP8	841	broad.mit.edu	37	2	202149644	202149644	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:202149644A>T	uc002uxr.1	+	9	1117	c.908A>T	c.(907-909)GAC>GTC	p.D303V	CASP8_uc002uxp.1_Missense_Mutation_p.D320V|CASP8_uc002uxq.1_Missense_Mutation_p.D288V|CASP8_uc002uxt.1_Missense_Mutation_p.D362V|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.D288V|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.D219V	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	303					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CAACTCATGGACCACAGTAAC	0.473		NA								HNSCC(4;0.00038)			81	83					0	0	0	0
4-Mar	57574	broad.mit.edu	37	2	217124226	217124226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:217124226C>A	uc002vgb.2	-	4	2809	c.1042G>T	c.(1042-1044)GAA>TAA	p.E348*		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	348						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTCTCCTCTTCCGAGGAGGGG	0.622		NA											18	27					5.35e-07	5.94e-07	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3669239	3669239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:3669239C>T	uc002wja.2	-	21	5098	c.5098G>A	c.(5098-5100)GAG>AAG	p.E1700K	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Silent_p.V1675V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1700	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GTTGAGGTCTCACATGTGGCT	0.612		NA											5	18					0	0	0	0
BFSP1	631	broad.mit.edu	37	20	17475534	17475534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:17475534C>G	uc002wpo.2	-	8	1222	c.1183G>C	c.(1183-1185)GAA>CAA	p.E395Q	BFSP1_uc002wpp.2_Missense_Mutation_p.E270Q|BFSP1_uc010zrn.1_Missense_Mutation_p.E256Q|BFSP1_uc010zro.1_Missense_Mutation_p.E256Q	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	395	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						TTTGTGTCTTCCAAACCTTTT	0.413		NA											48	74					0	0	0	0
SUN5	140732	broad.mit.edu	37	20	31590695	31590695	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:31590695C>T	uc002wyi.2	-	2	201	c.108G>A	c.(106-108)AGG>AGA	p.R36R		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	36					spermatogenesis					skin(1)	1						CCTCTGCCATCCTGCTGGTGT	0.403		NA											19	49					0	0	0	0
BPIL1	80341	broad.mit.edu	37	20	31606867	31606867	+	Splice_Site	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:31606867G>A	uc002wyj.2	+	10	1050	c.856_splice	c.e10-1	p.R286_splice		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing							extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GCTGATTTCAGAGGTCGGATG	0.572		NA											44	83					0	0	0	0
OSBPL2	9885	broad.mit.edu	37	20	60835072	60835072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:60835072G>A	uc002yck.1	+	3	275	c.73G>A	c.(73-75)GAG>AAG	p.E25K	OSBPL2_uc002ycl.1_Splice_Site_p.E13_splice|OSBPL2_uc011aah.1_Intron	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	25					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAATTTTCAGAGGCAAATCA	0.423		NA											23	55					0	0	0	0
NKAIN4	128414	broad.mit.edu	37	20	61873937	61873937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:61873937G>A	uc002yek.2	-	6	661	c.571C>T	c.(571-573)CAT>TAT	p.H191Y		NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	191						integral to membrane|plasma membrane					0	all_cancers(38;2.72e-09)					TCATTGACATGGTAGAGAGGA	0.453		NA											65	198					0	0	0	0
SFRS15	57466	broad.mit.edu	37	21	33057747	33057747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:33057747G>A	uc002ypd.2	-	18	2686	c.2260C>T	c.(2260-2262)CCT>TCT	p.P754S	SFRS15_uc002ype.2_Missense_Mutation_p.P754S|SFRS15_uc010glu.2_Missense_Mutation_p.P739S|SFRS15_uc002ypf.1_Missense_Mutation_p.P428S	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	754						nucleus	nucleotide binding|RNA binding				0						TGAGGAGGAGGAATGGATACT	0.453		NA											12	63					0	0	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011649	46011649	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:46011649A>C	uc002zfm.2	-	1	738	c.717T>G	c.(715-717)TGT>TGG	p.C239W	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	keratin associated protein 10-6	239	21.|29 X 5 AA repeats of C-C-X(3).					keratin filament					0						AGGTGGGCACACAGCACACAG	0.657		NA											70	197					0	0	0	0
SLC19A1	6573	broad.mit.edu	37	21	46957703	46957703	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:46957703C>T	uc002zhl.1	-	2	290	c.171G>A	c.(169-171)AAG>AAA	p.K57K	SLC19A1_uc010gpy.1_Silent_p.K57K|SLC19A1_uc002zhm.1_Silent_p.K57K|SLC19A1_uc010gpz.1_5'UTR	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	57	Extracellular (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGTGAAGTTCTTGTCGGGCC	0.687		NA											7	7					0	0	0	0
MCM3AP	8888	broad.mit.edu	37	21	47697544	47697544	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:47697544G>A	uc002zir.1	-	5	1791	c.1755C>T	c.(1753-1755)CTC>CTT	p.L585L		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	585					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CACATGGCCCGAGGCCCTCGG	0.552		NA											12	111					0	0	0	0
CECR1	51816	broad.mit.edu	37	22	17662734	17662734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:17662734T>A	uc002zmk.1	-	8	1630	c.1418A>T	c.(1417-1419)AAA>ATA	p.K473I	CECR1_uc010gqu.1_Missense_Mutation_p.K473I|CECR1_uc011agi.1_Missense_Mutation_p.K431I|CECR1_uc002zmj.1_Missense_Mutation_p.K232I	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	473					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCCAGCTGTTTGAGGGTCCT	0.547		NA											26	50					0	0	0	0
IGLL1	3543	broad.mit.edu	37	22	23915612	23915612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:23915612C>G	uc002zxd.2	-	3	601	c.483G>C	c.(481-483)GAG>GAC	p.E161D	IGLL1_uc002zxe.2_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1 isoform	161	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane					0						GCGTGGTCATCTCCACGCCCT	0.582		NA											3	154					0	0	0	0
MGAT3	4248	broad.mit.edu	37	22	39883764	39883764	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:39883764G>A	uc003axv.3	+	2	651	c.412G>A	c.(412-414)GAG>AAG	p.E138K	MGAT3_uc010gxy.2_Missense_Mutation_p.E138K	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	138	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					GGAGAAGCCTGAGGGGGCCAA	0.741		NA											4	11					0	0	0	0
MKL1	57591	broad.mit.edu	37	22	40815316	40815316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:40815316G>A	uc003ayv.1	-	9	1333	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	MKL1_uc003ayw.1_Missense_Mutation_p.R376C|MKL1_uc010gye.1_Missense_Mutation_p.R376C|MKL1_uc010gyf.1_Missense_Mutation_p.R326C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	376	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCTCGAAGGCGCTCAATCAGC	0.607		NA	T	RBM15	acute megakaryocytic leukemia								8	26					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41573028	41573028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:41573028C>A	uc003azl.3	+	31	5708	c.5313C>A	c.(5311-5313)TGC>TGA	p.C1771*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1771	Binding region for E1A adenovirus.|TAZ-type 2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CCAAGGGTTGCAAACGGAAAA	0.567		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				9	38					3.86e-05	4.23e-05	1	0
XRCC6	2547	broad.mit.edu	37	22	42033722	42033722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:42033722G>C	uc003bao.1	+	6	770	c.700G>C	c.(700-702)GAG>CAG	p.E234Q	XRCC6_uc003bap.1_Missense_Mutation_p.E193Q|XRCC6_uc011apc.1_Missense_Mutation_p.E184Q|XRCC6_uc003baq.1_Missense_Mutation_p.E234Q|XRCC6_uc003bar.1_Missense_Mutation_p.E234Q|XRCC6_uc003bas.1_Missense_Mutation_p.E184Q	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	234					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5						GGTTCACTTTGAGGAATCCAG	0.537		NA						Direct_reversal_of_damage|NHEJ					3	18					0	0	0	0
TRMU	55687	broad.mit.edu	37	22	46751462	46751462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:46751462G>C	uc003bhp.2	+	9	1359	c.995G>C	c.(994-996)CGA>CCA	p.R332P	TRMU_uc003bhq.2_Missense_Mutation_p.R114P|TRMU_uc003bhs.2_Missense_Mutation_p.R332P|TRMU_uc003bhr.2_Missense_Mutation_p.R218P|TRMU_uc003bht.2_Missense_Mutation_p.R185P|TRMU_uc003bhu.2_Missense_Mutation_p.R114P|TRMU_uc003bhv.2_Missense_Mutation_p.R185P	NM_018006	NP_060476	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate	332						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			ovary(1)	1		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGCCACTTCCGATTCCGCCAC	0.642		NA									OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	33					0	0	0	0
TRMU	55687	broad.mit.edu	37	22	46752850	46752850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:46752850G>A	uc003bhp.2	+	11	1577	c.1213G>A	c.(1213-1215)GAG>AAG	p.E405K	TRMU_uc003bhq.2_Missense_Mutation_p.E187K|TRMU_uc003bhs.2_Silent_p.*377*|TRMU_uc003bhr.2_Missense_Mutation_p.E291K|TRMU_uc003bht.2_Missense_Mutation_p.E258K|TRMU_uc003bhu.2_Missense_Mutation_p.E187K|TRMU_uc003bhv.2_Silent_p.*230*	NM_018006	NP_060476	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate	405						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			ovary(1)	1		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GATGGCCACTGAGAGCCCCAG	0.632		NA											15	39					0	0	0	0
KCNH8	131096	broad.mit.edu	37	3	19295208	19295208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:19295208G>A	uc003cbk.1	+	2	334	c.139G>A	c.(139-141)GAT>AAT	p.D47N	KCNH8_uc011awe.1_Missense_Mutation_p.D47N|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	47	Cytoplasmic (Potential).|PAS.					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CTACTGTTCCGATGGCTTCTG	0.453		NA											12	103					0	0	0	0
SLC6A20	54716	broad.mit.edu	37	3	45804560	45804560	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:45804560C>G	uc011bai.1	-	9	1432	c.1308G>C	c.(1306-1308)CTG>CTC	p.L436L	SLC6A20_uc003cow.2_Silent_p.L86L|SLC6A20_uc011baj.1_Silent_p.L399L	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	436	Helical; Name=9; (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAAGGCACACCAGACCTGGGG	0.592		NA											13	55					0	0	0	0
CACNA1D	776	broad.mit.edu	37	3	53757958	53757958	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:53757958T>A	uc003dgv.3	+	14	2195	c.2032T>A	c.(2032-2034)TTT>ATT	p.F678I	CACNA1D_uc003dgu.3_Missense_Mutation_p.F698I|CACNA1D_uc003dgy.3_Missense_Mutation_p.F678I|CACNA1D_uc003dgw.3_Missense_Mutation_p.F345I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	678	Extracellular (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAAGTTTAATTTTGATGAAAC	0.463		NA											15	39					0	0	0	0
PARP14	54625	broad.mit.edu	37	3	122420364	122420364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:122420364C>T	uc003efq.3	+	6	3022	c.2963C>T	c.(2962-2964)CCG>CTG	p.P988L	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.P705L|PARP14_uc003efs.1_Missense_Mutation_p.P705L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	988					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		ACAGCTGCCCCGCCAGGTTTA	0.522		NA											4	17					0	0	0	0
ROPN1B	152015	broad.mit.edu	37	3	125694519	125694519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:125694519C>G	uc003eih.2	+	3	458	c.230C>G	c.(229-231)TCT>TGT	p.S77C	ROPN1B_uc010hsb.2_Missense_Mutation_p.S77C|ROPN1B_uc010hsc.2_5'UTR|ROPN1B_uc011bkg.1_Missense_Mutation_p.S77C	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	77					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)		ATCCTGCATTCTCAGGTAAGG	0.567		NA											18	42					0	0	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733043	126733043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:126733043C>T	uc003ejg.2	+	11	2364	c.2360C>T	c.(2359-2361)CCG>CTG	p.P787L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	810	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)		TACAAGTGCCCGGCCCTGCGC	0.736		NA											6	25					0	0	0	0
ASTE1	28990	broad.mit.edu	37	3	130744130	130744130	+	Missense_Mutation	SNP	C	C	G	rs139512239		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:130744130C>G	uc003env.1	-	3	463	c.21G>C	c.(19-21)ATG>ATC	p.M7I	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.M7I|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	7					DNA repair		nuclease activity				0						CCACAAAACTCATTAGTCCTC	0.378		NA											22	57					0	0	0	0
GYG1	2992	broad.mit.edu	37	3	148712030	148712030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:148712030G>A	uc003ewn.2	+	2	162	c.109G>A	c.(109-111)GTG>ATG	p.V37M	GYG1_uc011bnp.1_Missense_Mutation_p.V37M|GYG1_uc003ewo.2_Missense_Mutation_p.V37M|GYG1_uc003ewp.2_Missense_Mutation_p.V37M	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	37					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGCTGGTCGTGCTCGCCAC	0.587		NA											18	65					0	0	0	0
TNIK	23043	broad.mit.edu	37	3	170802911	170802911	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:170802911G>A	uc003fhh.2	-	25	3339	c.2994C>T	c.(2992-2994)GCC>GCT	p.A998A	TNIK_uc003fhi.2_Silent_p.A943A|TNIK_uc003fhj.2_Silent_p.A969A|TNIK_uc003fhk.2_Silent_p.A990A|TNIK_uc003fhl.2_Silent_p.A914A|TNIK_uc003fhm.2_Silent_p.A935A|TNIK_uc003fhn.2_Silent_p.A961A|TNIK_uc003fho.2_Silent_p.A906A|TNIK_uc003fhg.2_Silent_p.A176A|TNIK_uc003fhp.2_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	998	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTTACCTGCGGCTGATGATT	0.483		NA											3	8					0	0	0	0
IQCG	84223	broad.mit.edu	37	3	197670906	197670906	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:197670906A>G	uc003fyo.2	-	3	171	c.25T>C	c.(25-27)TCA>CCA	p.S9P	IQCG_uc003fyp.2_Missense_Mutation_p.S9P|IQCG_uc003fyq.3_Missense_Mutation_p.S9P	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	9											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGAAGGTTTGAGTCTTCCAGG	0.408		NA											3	161					0	0	0	0
DGKQ	1609	broad.mit.edu	37	4	959304	959304	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:959304G>A	uc003gbw.2	-	14	1667	c.1593C>T	c.(1591-1593)TCC>TCT	p.S531S	DGKQ_uc010ibn.2_Intron	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	531					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTGACTCACGGACACCACGG	0.667		NA											5	18					0	0	0	0
IDUA	3425	broad.mit.edu	37	4	995557	995557	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:995557C>G	uc003gby.2	+	6	768	c.680C>G	c.(679-681)ACC>AGC	p.T227S	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.T180S	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	227					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TCCTTCCACACCCCACCGCGA	0.711		NA											3	16					0	0	0	0
OTOP1	133060	broad.mit.edu	37	4	4199228	4199228	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:4199228C>G	uc003ghp.1	-	5	1363	c.1333G>C	c.(1333-1335)GAA>CAA	p.E445Q		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	445					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAATGGATTCAAAGATGAAG	0.542		NA											10	62					0	0	0	0
EPHA5	2044	broad.mit.edu	37	4	66356413	66356413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:66356413G>C	uc003hcy.2	-	5	1277	c.1084C>G	c.(1084-1086)CGG>GGG	p.R362G	EPHA5_uc003hcx.2_Missense_Mutation_p.R293G|EPHA5_uc003hcz.2_Missense_Mutation_p.R362G|EPHA5_uc011cah.1_Missense_Mutation_p.R362G|EPHA5_uc011cai.1_Missense_Mutation_p.R362G|EPHA5_uc003hda.2_Missense_Mutation_p.R362G	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	362	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						ATGGCATTCCGAGGAGCAGAG	0.393		NA								TSP Lung(17;0.13)			13	37					0	0	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675521	77675521	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:77675521C>T	uc011cbx.1	+	7	4838	c.3885C>T	c.(3883-3885)CTC>CTT	p.L1295L	SHROOM3_uc003hkg.2_Silent_p.L1073L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1295					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TCCACCATCTCACCCCTCGTT	0.542		NA											41	133					0	0	0	0
FRAS1	80144	broad.mit.edu	37	4	79403007	79403007	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:79403007C>T	uc003hlb.2	+	57	8933	c.8493C>T	c.(8491-8493)TTC>TTT	p.F2831F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2826	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TCTCTACTTTCGCATCTGTCT	0.493		NA											63	180					0	0	0	0
FAM190A	401145	broad.mit.edu	37	4	91230090	91230090	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:91230090A>G	uc003hsv.3	+	2	995	c.655A>G	c.(655-657)AGA>GGA	p.R219G	FAM190A_uc003hsu.3_Missense_Mutation_p.R219G|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.R219G	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	219										large_intestine(1)|ovary(1)	2						GTACCAAGAGAGAGAACCTGT	0.408		NA											12	30					0	0	0	0
C4orf33	132321	broad.mit.edu	37	4	130023861	130023861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:130023861G>A	uc003igu.3	+	2	460	c.96G>A	c.(94-96)ATG>ATA	p.M32I	C4orf33_uc010ioc.1_Missense_Mutation_p.M32I|C4orf33_uc010iod.2_Missense_Mutation_p.M32I	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321	32										upper_aerodigestive_tract(1)	1						GAGTGATGATGGACATTAGTG	0.438		NA											13	48					0	0	0	0
FBXW7	55294	broad.mit.edu	37	4	153332853	153332853	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:153332853G>A	uc003ims.2	-	2	252	c.103C>T	c.(103-105)CGT>TGT	p.R35C	FBXW7_uc011cii.1_Missense_Mutation_p.R35C|FBXW7_uc003imt.2_Missense_Mutation_p.R35C|FBXW7_uc003imu.2_Missense_Mutation_p.R35C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	35					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTACCACACGATTCATCTGT	0.507		NA	Mis|N|D|F		colorectal|endometrial|T-ALL								47	90					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187539252	187539252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:187539252G>A	uc003izf.2	-	10	8676	c.8488C>T	c.(8488-8490)CAG>TAG	p.Q2830*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2830	Extracellular (Potential).|Cadherin 26.				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						GCCCTGATCTGAATTACTCTA	0.438		NA								HNSCC(5;0.00058)			35	72					0	0	0	0
IRX1	79192	broad.mit.edu	37	5	3600291	3600291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:3600291C>G	uc003jde.2	+	2	1281	c.1229C>G	c.(1228-1230)CCA>CGA	p.P410R		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	410	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CCTGCACCTCCACCACCGCAG	0.701		NA											15	69					0	0	0	0
TRIO	7204	broad.mit.edu	37	5	14406048	14406048	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:14406048A>G	uc003jff.2	+	32	4814	c.4808A>G	c.(4807-4809)GAG>GGG	p.E1603G	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.E1252G	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1603					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GCCCTGAAGGAGCCCATTCAC	0.577		NA											10	25					0	0	0	0
ZNF622	90441	broad.mit.edu	37	5	16465329	16465329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:16465329G>A	uc003jfq.2	-	1	566	c.446C>T	c.(445-447)CCA>CTA	p.P149L		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	149						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						TGCAGGCGCTGGGGGCGCCTT	0.652		NA											65	92					0	0	0	0
RANBP3L	202151	broad.mit.edu	37	5	36265595	36265595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:36265595G>C	uc003jkh.2	-	5	789	c.296C>G	c.(295-297)TCA>TGA	p.S99*	RANBP3L_uc011cow.1_Nonsense_Mutation_p.S124*	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	99					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAAGAGCTGATGTCATAAA	0.299		NA											6	32					0	0	0	0
NIPBL	25836	broad.mit.edu	37	5	37048678	37048678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:37048678G>C	uc003jkl.3	+	39	7163	c.6664G>C	c.(6664-6666)GAT>CAT	p.D2222H	NIPBL_uc003jkk.3_Missense_Mutation_p.D2222H|NIPBL_uc003jkn.2_5'Flank	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2222					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTTTATCTGATAAGAACTC	0.363		NA											13	37					0	0	0	0
C6	729	broad.mit.edu	37	5	41143093	41143093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:41143093C>G	uc003jmk.2	-	18	2849	c.2639G>C	c.(2638-2640)TGT>TCT	p.C880S	C6_uc003jml.1_Missense_Mutation_p.C880S	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	880	Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGGCAGACACATTTGGAAGT	0.458		NA											12	53					0	0	0	0
ITGA2	3673	broad.mit.edu	37	5	52351412	52351412	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:52351412C>T	uc003joy.2	+	8	967	c.824C>T	c.(823-825)ACG>ATG	p.T275M	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.T199M|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	275	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CGAAGTGCTACGAAAGTAATG	0.373		NA											15	58					0	0	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761101	121761101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:121761101C>G	uc003ksw.1	+	5	1263	c.1057C>G	c.(1057-1059)CTA>GTA	p.L353V	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.L353V|SNCAIP_uc003ksx.1_Missense_Mutation_p.L400V|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.L47V|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	353	ANK 1.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAAACAATCTATTACATAT	0.428		NA											55	54					0	0	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476460	140476460	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140476460T>C	uc003lil.2	+	1	2224	c.2086T>C	c.(2086-2088)TTG>CTG	p.L696L	PCDHB2_uc003lim.1_Silent_p.L357L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	696	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.697		NA											52	166					0	0	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482313	140482313	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140482313T>C	uc003lio.2	+	1	2080	c.2080T>C	c.(2080-2082)TTG>CTG	p.L694L	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	694	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCATTGGCCTCGGT	0.687		NA											10	67					0	0	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568971	140568971	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140568971T>C	uc003liw.1	+	3	2080	c.2080T>C	c.(2080-2082)TTG>CTG	p.L694L	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	694	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.706		NA											7	179					0	0	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595775	140595775	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140595775T>C	uc003lja.1	+	1	2267	c.2080T>C	c.(2080-2082)TTG>CTG	p.L694L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	694	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.682		NA											5	227					0	0	0	0
ZNF300	91975	broad.mit.edu	37	5	150276445	150276445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:150276445C>T	uc003lsy.1	-	6	623	c.356G>A	c.(355-357)GGT>GAT	p.G119D	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAATGAACCATCCCTTGT	0.413		NA											26	24					0	0	0	0
FLT4	2324	broad.mit.edu	37	5	180047255	180047255	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:180047255C>A	uc003mma.3	-	17	2539	c.2460G>T	c.(2458-2460)GGG>GGT	p.G820G	FLT4_uc003mlz.3_Silent_p.G820G|FLT4_uc003mmb.1_Silent_p.G353G	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	820	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGCACCTCCCCGGGGTCCA	0.652		NA							Congenital_Hereditary_Lymphedema				49	48					1.86e-20	2.14e-20	1	0
FAM136B	387071	broad.mit.edu	37	6	3045940	3045941	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:3045940_3045941AC>TT	uc011dhr.1	+	1	323_324	c.323_324AC>TT	c.(322-324)GAC>GTT	p.D108V		NM_001012983	NP_001013001			hypothetical protein LOC387071												0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CAGCAGCTGGACGGTTGTGTGA	0.48		NA											8	102					0	0	0	0
OR14J1	442191	broad.mit.edu	37	6	29274980	29274980	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:29274980A>G	uc011dln.1	+	1	514	c.514A>G	c.(514-516)ATT>GTT	p.I172V		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAAGAGAGTCATTCACCAATT	0.478		NA											42	90					0	0	0	0
HLA-G	3135	broad.mit.edu	37	6	29796372	29796372	+	Silent	SNP	C	C	T	rs141841160		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:29796372C>T	uc003nnw.2	+	4	574	c.396C>T	c.(394-396)CGC>CGT	p.R132R	HLA-G_uc011dmb.1_Silent_p.R104R|HLA-G_uc003raj.3_Silent_p.R137R|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	132	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4						CCGACGGACGCCTCCTCCGCG	0.672		NA											23	83					0	0	0	0
TRIM26	7726	broad.mit.edu	37	6	30154334	30154334	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:30154334C>T	uc003npr.2	-	9	1148	c.939G>A	c.(937-939)GTG>GTA	p.V313V	TRIM26_uc003nps.2_Silent_p.V313V|TRIM26_uc010jry.2_Silent_p.V43V|TRIM26_uc003npt.2_Silent_p.V313V	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	313	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GGGTGACGCTCACTGTGGGGA	0.468		NA											15	41					0	0	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137994	32137994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:32137994C>G	uc003oae.2	-	5	872	c.554G>C	c.(553-555)GGC>GCC	p.G185A	PPT2_uc003nzy.1_Intron|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.G149A|AGPAT1_uc003oaf.2_Missense_Mutation_p.G185A|AGPAT1_uc003oag.2_Missense_Mutation_p.G75A|AGPAT1_uc003oah.2_Missense_Mutation_p.G185A|AGPAT1_uc003oai.1_Missense_Mutation_p.G185A|AGPAT1_uc011dpl.1_Missense_Mutation_p.G73A	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	185					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						CAGCATGGAGCCATTGTGGTT	0.537		NA											7	12					0	0	0	0
FTSJD2	23070	broad.mit.edu	37	6	37411845	37411845	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:37411845C>T	uc003ons.2	+	3	457	c.204C>T	c.(202-204)GAC>GAT	p.D68D	FTSJD2_uc010jwu.2_Silent_p.D68D	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	68					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACTCTTTTGACGATGCATTCA	0.433		NA											40	52					0	0	0	0
TTBK1	84630	broad.mit.edu	37	6	43214425	43214425	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:43214425G>A	uc003ouq.1	+	2	306	c.27G>A	c.(25-27)AAG>AAA	p.K9K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	9						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCGCCCTTAAGGACGAAACCA	0.672		NA											10	34					0	0	0	0
PHIP	55023	broad.mit.edu	37	6	79655871	79655871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:79655871G>C	uc003pir.2	-	38	4703	c.4477C>G	c.(4477-4479)CAG>GAG	p.Q1493E	PHIP_uc003piq.2_Missense_Mutation_p.Q517E|PHIP_uc011dyp.1_Missense_Mutation_p.Q1492E|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.Q379E	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1493					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCGTTTATCTGAGCAGCATTG	0.433		NA											7	89					0	0	0	0
LAMA4	3910	broad.mit.edu	37	6	112465999	112465999	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:112465999G>C	uc003pvu.2	-	19	2799	c.2490C>G	c.(2488-2490)AGC>AGG	p.S830R	LAMA4_uc003pvv.2_Missense_Mutation_p.S823R|LAMA4_uc003pvt.2_Missense_Mutation_p.S823R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	830	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTACCTTGCTGGCAACAC	0.512		NA											21	82					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129635848	129635848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:129635848G>A	uc003qbn.2	+	24	3565	c.3460G>A	c.(3460-3462)GGA>AGA	p.G1154R	LAMA2_uc003qbo.2_Missense_Mutation_p.G1154R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1154	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCAAATTCGGACTCGATGC	0.527		NA											9	37					0	0	0	0
TCF21	6943	broad.mit.edu	37	6	134210544	134210544	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:134210544C>T	uc003qei.3	+	1	285	c.9C>T	c.(7-9)ACC>ACT	p.T3T	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.T3T	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	3					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		ACATGTCCACCGGCTCCCTCA	0.338		NA											14	91					0	0	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582563	136582563	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:136582563C>T	uc003qgx.1	-	12	2850	c.2597G>A	c.(2596-2598)CGT>CAT	p.R866H	BCLAF1_uc011edb.1_Missense_Mutation_p.R145H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R693H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R815H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R864H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	866					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAAGTACCACGACCTCTTCC	0.408		NA											25	227					0	0	0	0
SHPRH	257218	broad.mit.edu	37	6	146245960	146245960	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:146245960T>A	uc003qlf.2	-	17	3716	c.3317A>T	c.(3316-3318)TAC>TTC	p.Y1106F	SHPRH_uc003qld.2_Missense_Mutation_p.Y1115F|SHPRH_uc003qle.2_Missense_Mutation_p.Y1115F|SHPRH_uc003qlg.1_Missense_Mutation_p.Y662F|SHPRH_uc003qlh.2_Missense_Mutation_p.Y31F|SHPRH_uc003qli.1_Missense_Mutation_p.Y31F	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1106					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTGCTCATGTAGTGCTCTCG	0.408		NA											23	59					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152763311	152763311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:152763311C>T	uc010kiw.2	-	31	4509	c.3907G>A	c.(3907-3909)GAA>AAA	p.E1303K	SYNE1_uc003qot.3_Missense_Mutation_p.E1310K|SYNE1_uc003qou.3_Missense_Mutation_p.E1303K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1286K|SYNE1_uc003qow.2_Missense_Mutation_p.E598K|SYNE1_uc003qox.1_Missense_Mutation_p.E819K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1303	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCCCCCTTCTCCCTGCTGC	0.582		NA								HNSCC(10;0.0054)			18	60					0	0	0	0
CYP2W1	54905	broad.mit.edu	37	7	1026752	1026752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:1026752C>T	uc003sjq.1	+	6	842	c.829C>T	c.(829-831)CCC>TCC	p.P277S	CYP2W1_uc003sjr.1_Missense_Mutation_p.P277S	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	277					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGATGACCCCGAGGGCCT	0.692		NA											5	7					0	0	0	0
RADIL	55698	broad.mit.edu	37	7	4856042	4856042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:4856042G>A	uc003snj.1	-	8	1956	c.1783C>T	c.(1783-1785)CGC>TGC	p.R595C	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.R100C|RADIL_uc011jwc.1_Missense_Mutation_p.R355C|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	595	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCTCACGGCGCTCCGTCTGG	0.677		NA											4	15					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21646281	21646281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:21646281T>C	uc003svc.2	+	20	3813	c.3782T>C	c.(3781-3783)TTC>TCC	p.F1261S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1261	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CAGGCAGAGTTCAGAGAGAGA	0.338		NA							Kartagener_syndrome				3	10					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82579179	82579179	+	Silent	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:82579179T>A	uc003uhx.2	-	6	11014	c.10725A>T	c.(10723-10725)ACA>ACT	p.T3575T	PCLO_uc003uhv.2_Silent_p.T3575T|PCLO_uc010lec.2_Silent_p.T540T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3506					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAGGACTTTGTGTGTCTGAAT	0.438		NA											18	48					0	0	0	0
LMTK2	22853	broad.mit.edu	37	7	97832936	97832936	+	Silent	SNP	G	G	A	rs146973469	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:97832936G>A	uc003upd.1	+	12	4451	c.4158G>A	c.(4156-4158)CCG>CCA	p.P1386P		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1386					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGTGCGGCCCGGACCTGAGCG	0.597		NA											11	26					0	0	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97935815	97935815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:97935815G>A	uc003upj.2	-	11	1440	c.1177C>T	c.(1177-1179)CCG>TCG	p.P393S	uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	393	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TACGACGACGGGAACCAACCC	0.572		NA											25	71					0	0	0	0
PUS7	54517	broad.mit.edu	37	7	105098338	105098338	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:105098338G>C	uc003vcx.2	-	16	2104	c.1885C>G	c.(1885-1887)CTA>GTA	p.L629V	PUS7_uc010lji.2_Missense_Mutation_p.L635V|PUS7_uc003vcy.2_Missense_Mutation_p.L629V|PUS7_uc003vcz.1_Missense_Mutation_p.L629V	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	629					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						GAAGGGGGTAGAGAAAAATCC	0.473		NA											32	88					0	0	0	0
COG5	10466	broad.mit.edu	37	7	107204296	107204296	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:107204296G>C	uc003ved.2	-	1	664	c.139C>G	c.(139-141)CGA>GGA	p.R47G	COG5_uc003vec.2_Missense_Mutation_p.R47G|COG5_uc003vee.2_Missense_Mutation_p.R47G|DUS4L_uc003veg.2_5'Flank|DUS4L_uc003veh.2_5'Flank|DUS4L_uc011klw.1_5'Flank|DUS4L_uc011klx.1_5'Flank	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	47					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CCAGAGCCTCGAGCTCCGAGG	0.667		NA											28	50					0	0	0	0
CBLL1	79872	broad.mit.edu	37	7	107398754	107398754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:107398754G>A	uc003veq.2	+	6	937	c.607G>A	c.(607-609)GAA>AAA	p.E203K	CBLL1_uc011kme.1_Missense_Mutation_p.E82K|CBLL1_uc011kmf.1_Missense_Mutation_p.E202K	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	203					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						TGCTTCACTTGAAAATGTTCA	0.458		NA											57	125					0	0	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432019	117432019	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:117432019G>C	uc003vjf.2	-	4	1323	c.1231C>G	c.(1231-1233)CAA>GAA	p.Q411E		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	411	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522		NA											34	115					0	0	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635216	122635216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:122635216T>C	uc003vkl.1	-	1	539	c.473A>G	c.(472-474)GAG>GGG	p.E158G		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	158	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						TGGTAGATGCTCCATGGTGAG	0.383		NA											13	46					0	0	0	0
JHDM1D	80853	broad.mit.edu	37	7	139796488	139796488	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:139796488G>A	uc003vvm.2	-	17	2245	c.2241C>T	c.(2239-2241)TCC>TCT	p.S747S	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	747					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					GTAAACACGTGGAATAGTGCA	0.483		NA											23	64					0	0	0	0
OR9A4	130075	broad.mit.edu	37	7	141619579	141619579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:141619579C>T	uc003vwu.1	+	1	904	c.904C>T	c.(904-906)CGG>TGG	p.R302W		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423		NA											21	70					0	0	0	0
EPHB6	2051	broad.mit.edu	37	7	142566409	142566409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:142566409G>A	uc011kst.1	+	15	2985	c.2198G>A	c.(2197-2199)CGG>CAG	p.R733Q	EPHB6_uc011ksu.1_Missense_Mutation_p.R733Q|EPHB6_uc003wbs.2_Missense_Mutation_p.R441Q|EPHB6_uc003wbt.2_Missense_Mutation_p.R207Q|EPHB6_uc003wbu.2_Missense_Mutation_p.R441Q|EPHB6_uc003wbv.2_Missense_Mutation_p.R117Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	733	Cytoplasmic (Potential).|Protein kinase.					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)					AACATCCTGCGGCTGGAGGGC	0.677		NA											21	36					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336299	147336299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:147336299G>A	uc003weu.1	+	13	2515	c.1999G>A	c.(1999-2001)GCC>ACC	p.A667T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	667	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.A667T(1)		ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGTTTACAGCGCCTCCATGGA	0.502		NA								HNSCC(39;0.1)			18	49					0	0	0	0
C7orf33	202865	broad.mit.edu	37	7	148288041	148288041	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:148288041C>G	uc003wew.2	+	1	385	c.24C>G	c.(22-24)CTC>CTG	p.L8L		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	8										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCAAAGCCTCAGCCTTGAAG	0.537		NA											10	65					0	0	0	0
UNC5D	137970	broad.mit.edu	37	8	35583721	35583721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:35583721G>A	uc003xjr.1	+	10	1683	c.1355G>A	c.(1354-1356)CGG>CAG	p.R452Q	UNC5D_uc003xjs.1_Missense_Mutation_p.R447Q|UNC5D_uc003xju.1_Missense_Mutation_p.R28Q|UNC5D_uc003xjt.1_Missense_Mutation_p.R210Q	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	452	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGTGAGCCGGACATACAGC	0.488		NA											59	62					0	0	0	0
KCNU1	157855	broad.mit.edu	37	8	36671785	36671785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:36671785G>A	uc010lvw.2	+	8	880	c.793G>A	c.(793-795)GAG>AAG	p.E265K	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	265						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATATTTTGAGTCAATTTA	0.418		NA											17	18					0	0	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38810819	38810819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:38810819G>T	uc003xmi.3	+	9	941	c.707G>T	c.(706-708)CGA>CTA	p.R236L	PLEKHA2_uc011lce.1_Missense_Mutation_p.R186L	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	236	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CACCAGGACCGAGAACCACTG	0.463		NA											87	224					2.17e-41	2.5e-41	1	0
CPA6	57094	broad.mit.edu	37	8	68334861	68334861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:68334861C>T	uc003xxq.3	-	11	1448	c.1192G>A	c.(1192-1194)GAA>AAA	p.E398K	CPA6_uc003xxr.3_Missense_Mutation_p.E154K	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	398		Nucleophile (By similarity).			proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCACGTAGTTCGAAAGCAAAT	0.383		NA											38	94					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121290786	121290786	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:121290786G>C	uc003yox.2	+	28	3715	c.3450G>C	c.(3448-3450)GTG>GTC	p.V1150V	COL14A1_uc003yoz.2_Silent_p.V115V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1150	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGATGATGTGAACAAAATCT	0.353		NA											18	18					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144998292	144998292	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:144998292C>T	uc003zaf.1	-	31	6386	c.6216G>A	c.(6214-6216)GAG>GAA	p.E2072E	PLEC_uc003zab.1_Silent_p.E1935E|PLEC_uc003zac.1_Silent_p.E1939E|PLEC_uc003zad.2_Silent_p.E1935E|PLEC_uc003zae.1_Silent_p.E1903E|PLEC_uc003zag.1_Silent_p.E1913E|PLEC_uc003zah.2_Silent_p.E1921E|PLEC_uc003zaj.2_Silent_p.E1962E	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2072	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGGCCGCCTTCTCGAAGCTCG	0.701		NA											15	28					0	0	0	0
GLIS3	169792	broad.mit.edu	37	9	3937164	3937164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:3937164G>A	uc003zhw.1	-	4	1465	c.1271C>T	c.(1270-1272)TCA>TTA	p.S424L	GLIS3_uc003zhx.1_Missense_Mutation_p.S579L|GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.S357L|GLIS3_uc003zhz.1_Missense_Mutation_p.S357L	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	424	C2H2-type 3.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCAAGCCTTGAAAAGGCCTT	0.458		NA											9	69					0	0	0	0
FREM1	158326	broad.mit.edu	37	9	14848678	14848678	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:14848678C>A	uc003zlm.2	-	7	1836	c.1246G>T	c.(1246-1248)GTA>TTA	p.V416L	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	416	CSPG 2.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCCAGGATACACGGGGGGCA	0.373		NA											19	42					1.28e-07	1.43e-07	1	0
UNC13B	10497	broad.mit.edu	37	9	35385812	35385812	+	Splice_Site	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35385812T>C	uc003zwq.2	+	22	3010	c.2718_splice	c.e22+2	p.K906_splice	UNC13B_uc003zwr.2_Splice_Site_p.K906_splice	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGAATGAAGGTAAGAAATGGA	0.483		NA											27	97					0	0	0	0
UNC13B	10497	broad.mit.edu	37	9	35403456	35403456	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35403456C>T	uc003zwq.2	+	38	4642	c.4350C>T	c.(4348-4350)CTC>CTT	p.L1450L	UNC13B_uc003zwr.2_Silent_p.L1469L	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1450	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAATGACCTCAAGTGGCAGA	0.532		NA											27	47					0	0	0	0
RGP1	9827	broad.mit.edu	37	9	35750328	35750328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35750328C>A	uc011lpf.1	+	3	346	c.205C>A	c.(205-207)CAG>AAG	p.Q69K	GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.Q109K	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	69										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGACTCTAGTCAGCCAGATGT	0.612		NA											9	31					9.05e-12	1.02e-11	1	0
VPS13A	23230	broad.mit.edu	37	9	79910535	79910535	+	Silent	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:79910535T>G	uc004akr.2	+	33	3845	c.3585T>G	c.(3583-3585)ACT>ACG	p.T1195T	VPS13A_uc004akp.3_Silent_p.T1195T|VPS13A_uc004akq.3_Silent_p.T1195T|VPS13A_uc004aks.2_Silent_p.T1156T|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1195					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TGGCTGCTACTGGTGTAAAAG	0.433		NA											9	50					0	0	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307677	88307677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:88307677G>C	uc011ltd.1	-	2	117	c.84C>G	c.(82-84)ATC>ATG	p.I28M	AGTPBP1_uc010mqc.2_Missense_Mutation_p.I28M|AGTPBP1_uc011lte.1_Missense_Mutation_p.I80M	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	28					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GCTCAGCATTGATCTTCTCCA	0.388		NA											6	25					0	0	0	0
SLC31A1	1317	broad.mit.edu	37	9	116028637	116028637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:116028637A>G	uc004bgv.3	+	6	716	c.530A>G	c.(529-531)GAG>GGG	p.E177G	FKBP15_uc010muu.1_Intron	NM_001859	NP_001850	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporters),	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to plasma membrane	copper ion transmembrane transporter activity				0						ATGATTCAAGAGGCTCTTATG	0.333		NA											4	5					0	0	0	0
AMBP	259	broad.mit.edu	37	9	116823771	116823771	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:116823771G>A	uc004bie.3	-	8	1049	c.786C>T	c.(784-786)GGC>GGT	p.G262G	AMBP_uc011lxk.1_Silent_p.G203G|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	262	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCATGCAGCCGCCGTACTGGA	0.577		NA											24	86					0	0	0	0
DFNB31	25861	broad.mit.edu	37	9	117266938	117266938	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:117266938C>T	uc004biz.3	-	1	793	c.144G>A	c.(142-144)GCG>GCA	p.A48A	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.A48A|DFNB31_uc004bjb.2_Silent_p.A48A	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	48					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CGCTCAGCAGCGCGGTCAGCG	0.567		NA											8	33					0	0	0	0
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:125861042A>T	uc011lzh.1	+	23	2916	c.2782A>T	c.(2782-2784)AAA>TAA	p.K928*	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Nonsense_Mutation_p.K267*	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	928	Potential.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						ATCTGAGATTAAAAAAAACAG	0.398		NA											10	30					0	0	0	0
ZNF79	7633	broad.mit.edu	37	9	130206706	130206706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:130206706C>T	uc004bqw.3	+	5	1141	c.727C>T	c.(727-729)CAC>TAC	p.H243Y	ZNF79_uc011maf.1_Missense_Mutation_p.H219Y|ZNF79_uc011mag.1_Missense_Mutation_p.H219Y	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	243	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CCAGAGGATTCACACTGGAGA	0.537		NA											15	59					0	0	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115719	131115719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:131115719G>A	uc004but.2	+	9	1507	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	408					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						TTCAATAGCCGCATCCTGTCC	0.617		NA											4	91					0	0	0	0
RALGDS	5900	broad.mit.edu	37	9	135984211	135984211	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:135984211C>T	uc004cco.2	-	5	647	c.627G>A	c.(625-627)TCG>TCA	p.S209S	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.S197S|RALGDS_uc004ccr.2_Silent_p.S208S|RALGDS_uc011mcv.1_Silent_p.S180S|RALGDS_uc004ccs.2_Silent_p.S154S|RALGDS_uc011mcw.1_Silent_p.S280S|RALGDS_uc004ccv.1_5'UTR|RALGDS_uc004ccu.1_5'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	209	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAAATCCTCCGAGTACTGGT	0.647		NA	T	CIITA	PMBL|Hodgkin Lymphona|								5	33					0	0	0	0
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:3241681C>T	uc004crg.3	-	5	2202	c.2045G>A	c.(2044-2046)CGC>CAC	p.R682H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	682						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532		NA											27	71					0	0	0	0
KAL1	3730	broad.mit.edu	37	X	8522000	8522000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:8522000C>G	uc004csf.2	-	9	1497	c.1347G>C	c.(1345-1347)AAG>AAC	p.K449N		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	449	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TACCTTCTGTCTTCTTCCAGT	0.413		NA											5	21					0	0	0	0
DMD	1756	broad.mit.edu	37	X	31986549	31986549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:31986549G>C	uc004dda.1	-	45	6765	c.6521C>G	c.(6520-6522)TCA>TGA	p.S2174*	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Nonsense_Mutation_p.S830*|DMD_uc004dcx.2_Nonsense_Mutation_p.S833*|DMD_uc004dcz.2_Nonsense_Mutation_p.S2051*|DMD_uc004dcy.1_Nonsense_Mutation_p.S2170*|DMD_uc004ddb.1_Nonsense_Mutation_p.S2166*|DMD_uc010ngo.1_Nonsense_Mutation_p.S83*|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2174	Spectrin 15.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTGTTTTTGAGGATTGCTG	0.458		NA											23	72					0	0	0	0
CFP	5199	broad.mit.edu	37	X	47486681	47486681	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:47486681A>G	uc004dig.3	-	5	751	c.625T>C	c.(625-627)TGC>CGC	p.C209R	CFP_uc004dih.2_Missense_Mutation_p.C209R|CFP_uc004dii.1_Missense_Mutation_p.C145R|CFP_uc010nhu.2_Missense_Mutation_p.C209R	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	209	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						CCACCGTGGCAGGAGGCTGAG	0.667		NA											3	14					0	0	0	0
ZNF630	57232	broad.mit.edu	37	X	47918145	47918145	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:47918145C>G	uc004div.3	-	5	1938	c.1686G>C	c.(1684-1686)CAG>CAC	p.Q562H	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.Q438H	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	562	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						TATGACCTCTCTGATGTAGAA	0.448		NA											10	11					0	0	0	0
WAS	7454	broad.mit.edu	37	X	48542320	48542320	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:48542320C>G	uc004dkm.3	+	1	135	c.78C>G	c.(76-78)CTC>CTG	p.L26L		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	26					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				CCTCCACCCTCCTCCAGGACC	0.607		NA	Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				16	50					0	0	0	0
BRWD3	254065	broad.mit.edu	37	X	79980467	79980467	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:79980467C>T	uc004edt.2	-	15	1749	c.1486G>A	c.(1486-1488)GAC>AAC	p.D496N	BRWD3_uc004edo.2_Missense_Mutation_p.D92N|BRWD3_uc004edp.2_Missense_Mutation_p.D325N|BRWD3_uc004edq.2_Missense_Mutation_p.D92N|BRWD3_uc010nmj.1_Missense_Mutation_p.D92N|BRWD3_uc004edr.2_Missense_Mutation_p.D166N|BRWD3_uc004eds.2_Missense_Mutation_p.D92N|BRWD3_uc004edu.2_Missense_Mutation_p.D166N|BRWD3_uc004edv.2_Missense_Mutation_p.D92N|BRWD3_uc004edw.2_Missense_Mutation_p.D92N|BRWD3_uc004edx.2_Missense_Mutation_p.D92N|BRWD3_uc004edy.2_Missense_Mutation_p.D92N|BRWD3_uc004edz.2_Missense_Mutation_p.D166N|BRWD3_uc004eea.2_Missense_Mutation_p.D166N|BRWD3_uc004eeb.2_Missense_Mutation_p.D92N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	496	WD 8.									ovary(4)	4						GTCCCCCGGTCAAGGTCCCAA	0.388		NA											8	14					0	0	0	0
ZNF711	7552	broad.mit.edu	37	X	84525039	84525039	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:84525039G>C	uc004eeo.2	+	8	1342	c.995G>C	c.(994-996)AGA>ACA	p.R332T	ZNF711_uc004eep.2_Missense_Mutation_p.R332T|ZNF711_uc004eeq.2_Missense_Mutation_p.R378T|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	332					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						TTAGAAAGCAGAAGTAGTACA	0.333		NA											8	30					0	0	0	0
ZNF449	203523	broad.mit.edu	37	X	134494925	134494925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:134494925C>T	uc004eys.2	+	5	1646	c.1481C>T	c.(1480-1482)ACT>ATT	p.T494I	ZNF449_uc004eyt.2_Missense_Mutation_p.T374I|ZNF449_uc004eyu.2_Missense_Mutation_p.T300I	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	494	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAGTGTACTCATTGTTCT	0.393		NA											92	135					0	0	0	0
GPR112	139378	broad.mit.edu	37	X	135431707	135431707	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:135431707A>T	uc004ezu.1	+	6	6133	c.5842A>T	c.(5842-5844)AAC>TAC	p.N1948Y	GPR112_uc010nsb.1_Missense_Mutation_p.N1743Y|GPR112_uc010nsc.1_Missense_Mutation_p.N1715Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1948	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AATTCTTCCTAACCATGGGCT	0.418		NA											6	147					0	0	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995473	140995473	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:140995473G>A	uc004fbt.2	+	4	2569	c.2283G>A	c.(2281-2283)GAG>GAA	p.E761E	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	761							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCCTGAGAGTCCTCAGA	0.542		NA								HNSCC(15;0.026)			82	238					0	0	0	0
CDK4	1019	broad.mit.edu	37	12	58145367	58145369	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:58145367_58145369delCCT	uc001spv.2	-	2	359_361	c.132_134delAGG	c.(130-135)GGAGGT>GGT	p.44_45GG>G	CDK4_uc010ssb.1_5'UTR|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	44_45	Poly-Gly.|Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCCTCCTCCACCTCCTCCTCCAT	0.567		NA	Mis			melanoma 			Hereditary_Melanoma				20	68	---	---	---	---	NA	NA	NA	NA
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:121134166_121134168delGAA	uc001tyy.1	+	5	848_850	c.697_699delGAA	c.(697-699)GAAdel	p.E238del		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	238	Poly-Glu.|Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						gaaagaagaggaagaagaagaag	0.404		NA											7	200	---	---	---	---	NA	NA	NA	NA
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:43820775delC	uc001zrt.2	+	4	7571	c.7104delC	c.(7102-7104)AACfs	p.N2368fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642		NA											12	38	---	---	---	---	NA	NA	NA	NA
TRIM65	201292	broad.mit.edu	37	17	73888194	73888194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:73888194delG	uc002jpx.2	-	4	853	c.817delC	c.(817-819)CTGfs	p.L273fs		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	273						intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTCACCCAGCTGTTGGTCT	0.632		NA											2	4	---	---	---	---	NA	NA	NA	NA
ROCK2	9475	broad.mit.edu	37	2	11389837	11389837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:11389837delA	uc002rbd.1	-	4	861	c.412delT	c.(412-414)TGGfs	p.W138fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.W138fs*31(1)		stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCTTCCCAAAAAAAGGCA	0.358		NA											32	118	---	---	---	---	NA	NA	NA	NA
PMS1	5378	broad.mit.edu	37	2	190660652	190660653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:190660652_190660653insG	uc002urh.3	+	3	819_820	c.290_291insG	c.(289-291)TTGfs	p.L97fs	PMS1_uc010zga.1_Frame_Shift_Ins_p.L97fs|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Frame_Shift_Ins_p.L97fs|PMS1_uc002uri.3_Frame_Shift_Ins_p.L97fs|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Frame_Shift_Ins_p.L97fs|PMS1_uc010frz.2_Frame_Shift_Ins_p.L97fs|PMS1_uc010zfz.1_Frame_Shift_Ins_p.L97fs	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	97					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAAGCCTTGGGGTCAATTT	0.342		NA	Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					35	84	---	---	---	---	NA	NA	NA	NA
PARL	55486	broad.mit.edu	37	3	183551318	183551318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:183551318delA	uc003fmd.2	-	9	1049	c.990delT	c.(988-990)TTTfs	p.F330fs	PARL_uc003fme.2_Frame_Shift_Del_p.F280fs	NM_018622	NP_061092	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like isoform 1	330	Mitochondrial matrix (Potential).				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity				0	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCATGATCAAAAAATTTCC	0.473		NA											25	59	---	---	---	---	NA	NA	NA	NA
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:76599857_76599858insA	uc003pih.1	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)CAGAAAfs	p.Q914fs	MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	914_915	Potential.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381		NA											7	66	---	---	---	---	NA	NA	NA	NA
