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
RER1	11079	broad.mit.edu	37	1	2327276	2327276	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:2327276C>T	uc001aje.1	+	2	238	c.47C>T	c.(46-48)TCG>TTG	p.S16L	RER1_uc001ajf.1_Missense_Mutation_p.S16L	NM_007033	NP_008964	O15258	RER1_HUMAN	RER1 retention in endoplasmic reticulum 1	16					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane					0	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGGAAACCTTCGGTGGTGTAC	0.413		NA											14	60					0	0	0	0
PADI1	29943	broad.mit.edu	37	1	17552556	17552556	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:17552556G>C	uc001bah.1	+	6	647	c.555G>C	c.(553-555)CTG>CTC	p.L185L		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	185					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAATGCTGCTGAGCTGCAATG	0.567		NA											10	62					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27106940	27106940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:27106940C>T	uc001bmv.1	+	20	6924	c.6551C>T	c.(6550-6552)GCC>GTC	p.A2184V	ARID1A_uc001bmu.1_Missense_Mutation_p.A1967V|ARID1A_uc001bmx.1_Missense_Mutation_p.A1030V|ARID1A_uc009vsm.1_Missense_Mutation_p.A512V|ARID1A_uc009vsn.1_Missense_Mutation_p.A426V	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2184					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCTCGTGCCATTGCAGTG	0.632		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								4	81					0	0	0	0
PSMB2	5690	broad.mit.edu	37	1	36068938	36068938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:36068938C>G	uc001bzf.1	-	6	646	c.536G>C	c.(535-537)AGT>ACT	p.S179T	PSMB2_uc001bzd.1_Intron|PSMB2_uc010ohz.1_Missense_Mutation_p.S154T|PSMB2_uc001bzg.1_Missense_Mutation_p.S179T	NM_002794	NP_002785	P49721	PSB2_HUMAN	proteasome beta 2 subunit	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	GATTCGAACACTGAAGGTTGG	0.388		NA											15	74					0	0	0	0
KDM4A	9682	broad.mit.edu	37	1	44156525	44156525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:44156525G>T	uc001cjx.2	+	14	2213	c.2047G>T	c.(2047-2049)GGA>TGA	p.G683*	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	683					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						GGTTGAATTTGGAGGCTTTAA	0.478		NA											7	663					0.00621372	0.00753546	1	0
CDKN2C	1031	broad.mit.edu	37	1	51439744	51439744	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:51439744G>C	uc001csf.2	+	3	1525	c.309G>C	c.(307-309)GGG>GGC	p.G103G	CDKN2C_uc001csg.2_Silent_p.G103G	NM_001262	NP_001253	P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C	103	ANK 4.				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(4)|p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ATAATGAAGGGAACCTGCCCT	0.532		NA	D		glioma|MM				Multiple_Endocrine_Neoplasia_type_1				6	59					0	0	0	0
NBPF9	400818	broad.mit.edu	37	1	144619350	144619350	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:144619350A>G	uc009wig.1	+	7	573	c.497A>G	c.(496-498)AAT>AGT	p.N166S	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.N166S|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.N97S|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.N97S|NBPF9_uc010oyg.1_Missense_Mutation_p.N131S|NBPF9_uc009wii.1_Intron	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	166	NBPF 1.					cytoplasm					0						TTTATAGAAAATGACGAAGAT	0.423		NA											137	253					0	0	0	0
SV2A	9900	broad.mit.edu	37	1	149884914	149884914	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:149884914C>T	uc001etg.2	-	2	970	c.479G>A	c.(478-480)GGC>GAC	p.G160D	SV2A_uc001eth.2_Missense_Mutation_p.G160D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	160	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGGCCGTGGCCACACTCCCG	0.617		NA											57	63					0	0	0	0
TCHH	7062	broad.mit.edu	37	1	152085381	152085381	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:152085381G>A	uc001ezp.2	-	2	312	c.312C>T	c.(310-312)GAC>GAT	p.D104D	TCHH_uc009wne.1_Silent_p.D104D	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	104					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTTTCCGTCACACCGGG	0.527		NA											135	97					0	0	0	0
LCE2A	353139	broad.mit.edu	37	1	152671632	152671632	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:152671632C>T	uc001faj.2	+	2	306	c.255C>T	c.(253-255)CCC>CCT	p.P85P		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGAGCCCCGATTGTTGTG	0.657		NA											120	82					0	0	0	0
GON4L	54856	broad.mit.edu	37	1	155744943	155744943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:155744943G>A	uc001flz.2	-	17	2297	c.2200C>T	c.(2200-2202)CAA>TAA	p.Q734*	GON4L_uc001fly.1_Nonsense_Mutation_p.Q734*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q734*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q734*|GON4L_uc001fmb.3_5'UTR|GON4L_uc001fmc.2_Nonsense_Mutation_p.Q734*|GON4L_uc001fmd.3_Nonsense_Mutation_p.Q734*|GON4L_uc009wri.2_Nonsense_Mutation_p.Q320*|GON4L_uc009wrj.1_Nonsense_Mutation_p.Q220*|GON4L_uc001fme.2_Nonsense_Mutation_p.Q562*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	734					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGGAGCTTTGAGCAAAGGTT	0.438		NA											17	129					0	0	0	0
FCRLA	84824	broad.mit.edu	37	1	161677051	161677051	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:161677051C>T	uc001gbe.2	+	1	290	c.48C>T	c.(46-48)GTC>GTT	p.V16V	FCRLA_uc001gbd.2_Silent_p.V16V|FCRLA_uc001gbf.2_Silent_p.V16V|FCRLA_uc001gbg.2_Silent_p.V16V|FCRLA_uc009wuo.2_Silent_p.V16V|FCRLA_uc009wup.2_Silent_p.V16V|FCRLA_uc009wuq.2_Silent_p.V16V	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	Error:Variant_position_missing_in_Q7L513_after_alignment					cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TAAACACAGTCACCATGAAGC	0.463		NA											6	33					0	0	0	0
DUSP27	92235	broad.mit.edu	37	1	167088559	167088559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:167088559G>A	uc001geb.1	+	4	511	c.511G>A	c.(511-513)GGC>AGC	p.G171S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	171					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GCATGGCACCGGCGTTTACAC	0.567		NA											4	37					0	0	0	0
F5	2153	broad.mit.edu	37	1	169510609	169510609	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:169510609A>G	uc001ggg.1	-	13	3864	c.3719T>C	c.(3718-3720)CTT>CCT	p.L1240P		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1240	2-7.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCTGGAGAAAGGGTTGTATG	0.527		NA											4	346					0	0	0	0
TNN	63923	broad.mit.edu	37	1	175097245	175097245	+	Silent	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:175097245T>G	uc001gkl.1	+	14	3236	c.3123T>G	c.(3121-3123)CTT>CTG	p.L1041L		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1041	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCTCCCTTGTTGCCTTTA	0.537		NA											8	57					0	0	0	0
UCHL5	51377	broad.mit.edu	37	1	192985497	192985497	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:192985497G>C	uc001gsm.2	-	11	1105	c.974C>G	c.(973-975)GCT>GGT	p.A325G	UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.A324G|UCHL5_uc010pov.1_RNA	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	325	Interaction with ADRM1.				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|ovary(1)	3						GGTTTCCTGAGCTTTCTTTGC	0.289		NA											12	121					0	0	0	0
KCNT2	343450	broad.mit.edu	37	1	196295872	196295872	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:196295872G>C	uc001gtd.1	-	19	2311	c.2251C>G	c.(2251-2253)CCC>GCC	p.P751A	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Missense_Mutation_p.P701A|KCNT2_uc001gtf.1_Missense_Mutation_p.P751A|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.P751A|KCNT2_uc001gth.1_Missense_Mutation_p.P272A	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	751	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P751P(1)		ovary(5)|breast(1)|skin(1)	7						AGTACTATGGGATTAAGTTCT	0.284		NA											3	38					0	0	0	0
KDM5B	10765	broad.mit.edu	37	1	202733221	202733221	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:202733221T>C	uc001gyf.2	-	6	880	c.764A>G	c.(763-765)AAT>AGT	p.N255S	KDM5B_uc009xag.2_Missense_Mutation_p.N291S|KDM5B_uc001gyg.1_Missense_Mutation_p.N97S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	255					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						ACGTCTCAGATTATGAGTTCT	0.303		NA											11	42					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237969513	237969513	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:237969513T>C	uc001hyl.1	+	99	14348	c.14228T>C	c.(14227-14229)CTT>CCT	p.L4743P	RYR2_uc010pyb.1_Missense_Mutation_p.L176P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4743					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGCTCACCTTCTCGACATT	0.408		NA											24	35					0	0	0	0
OR2T2	401992	broad.mit.edu	37	1	248616736	248616736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:248616736C>T	uc001iek.1	+	1	638	c.638C>T	c.(637-639)TCT>TTT	p.S213F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCCTCTATCTGTCATCTCT	0.537		NA											9	143					0	0	0	0
ANKRD26	22852	broad.mit.edu	37	10	27303483	27303483	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:27303483T>C	uc001ith.2	-	31	4833	c.4661A>G	c.(4660-4662)TAT>TGT	p.Y1554C	ANKRD26_uc001itg.2_Missense_Mutation_p.Y1241C|ANKRD26_uc009xku.1_Missense_Mutation_p.Y1555C	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1554	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						GAGTTGCTTATATTTTTCCAG	0.284		NA											17	13					0	0	0	0
CCDC109A	90550	broad.mit.edu	37	10	74620189	74620189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:74620189C>T	uc001jtc.2	+	4	421	c.400C>T	c.(400-402)CGC>TGC	p.R134C	CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Missense_Mutation_p.R134C|CCDC109A_uc001jtd.2_Missense_Mutation_p.R85C	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	coiled-coil domain containing 109A	134	Mitochondrial matrix (Potential).				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding				0	Prostate(51;0.0198)					AGATGGTGTTCGCGTTGCTGC	0.358		NA											18	77					0	0	0	0
KIAA0913	23053	broad.mit.edu	37	10	75553701	75553701	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:75553701A>C	uc009xrl.2	+	12	2556	c.2524A>C	c.(2524-2526)ACA>CCA	p.T842P	KIAA0913_uc001jve.2_Missense_Mutation_p.T842P|KIAA0913_uc001jvf.2_Missense_Mutation_p.T842P|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.T265P|KIAA0913_uc010qkr.1_Missense_Mutation_p.T265P|KIAA0913_uc001jvj.2_Missense_Mutation_p.T265P	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	842							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					CTTCCTGTTGACAGTGCTAAG	0.562		NA											7	20					0	0	0	0
NRG3	10718	broad.mit.edu	37	10	84625186	84625186	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:84625186A>T	uc001kco.2	+	4	1074	c.1047A>T	c.(1045-1047)GAA>GAT	p.E349D	NRG3_uc010qlz.1_Missense_Mutation_p.E348D|NRG3_uc001kcp.2_Missense_Mutation_p.E128D|NRG3_uc001kcq.2_5'UTR|NRG3_uc001kcr.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	349	Extracellular (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)		TGGGGATTGAATTCATGGGTA	0.373		NA											12	50					0	0	0	0
CDHR1	92211	broad.mit.edu	37	10	85972970	85972970	+	Missense_Mutation	SNP	C	C	T	rs148280890	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:85972970C>T	uc001kcv.2	+	16	1906	c.1906C>T	c.(1906-1908)CGC>TGC	p.R636C	CDHR1_uc001kcw.2_Missense_Mutation_p.R636C|CDHR1_uc009xst.2_Missense_Mutation_p.R340C|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	636	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GAATTCCATCCGCTCCCTGGA	0.587		NA											25	74					0	0	0	0
DMBT1	1755	broad.mit.edu	37	10	124402660	124402660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:124402660G>A	uc001lgk.1	+	53	7094	c.6988G>A	c.(6988-6990)GGA>AGA	p.G2330R	DMBT1_uc001lgl.1_Missense_Mutation_p.G2320R|DMBT1_uc001lgm.1_Missense_Mutation_p.G1702R|DMBT1_uc009xzz.1_Missense_Mutation_p.G2329R|DMBT1_uc010qtx.1_Missense_Mutation_p.G1050R|DMBT1_uc009yab.1_Missense_Mutation_p.G1033R|DMBT1_uc009yac.1_Missense_Mutation_p.G624R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2330	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACACCTACGGACCCTACTC	0.552		NA											16	89					0	0	0	0
ELP4	26610	broad.mit.edu	37	11	31616423	31616423	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:31616423G>A	uc001mtb.2	+	4	523	c.488G>A	c.(487-489)CGT>CAT	p.R163H	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.R163H|ELP4_uc010rdz.1_Missense_Mutation_p.R163H	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	163					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)					ATAGCTTGGCGTTACCAGTTA	0.318		NA											6	22					0	0	0	0
SPRYD5	84767	broad.mit.edu	37	11	55653123	55653123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:55653123G>A	uc010rip.1	+	2	311	c.219G>A	c.(217-219)ATG>ATA	p.M73I	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	73						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TGAAGAACATGGCTTTCATTG	0.478		NA											11	13					0	0	0	0
OR5T2	219464	broad.mit.edu	37	11	55999656	55999656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:55999656C>A	uc010rjc.1	-	1	1006	c.1006G>T	c.(1006-1008)GTA>TTA	p.V336L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	336	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GAGTCTTTTACATCTTTGTTC	0.328		NA											17	49					1.57e-10	2.09e-10	1	0
NXF1	10482	broad.mit.edu	37	11	62564806	62564806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:62564806G>A	uc001nvf.1	-	12	1242	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.T412M	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	369	Interaction with THOC4.|LRR 4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GGGCGGTAACGTCGTGGGGGC	0.438		NA											12	76					0	0	0	0
MAP4K2	5871	broad.mit.edu	37	11	64563761	64563761	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:64563761G>T	uc001obh.2	-	24	1827	c.1735C>A	c.(1735-1737)CAG>AAG	p.Q579K	MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.Q571K	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	579	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						ATGATGCGCTGGGTGAGGCGG	0.413		NA											18	44					9.17e-09	1.19e-08	1	0
PACS1	55690	broad.mit.edu	37	11	65960978	65960978	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:65960978G>C	uc001oha.1	+	2	512	c.378G>C	c.(376-378)AAG>AAC	p.K126N	PACS1_uc001ogz.1_Missense_Mutation_p.K126N	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	126					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						TGACCCTGAAGAAACTCGTCA	0.458		NA											7	27					0	0	0	0
SHANK2	22941	broad.mit.edu	37	11	70333123	70333123	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:70333123C>T	uc001oqc.2	-	21	3353	c.3275G>A	c.(3274-3276)CGG>CAG	p.R1092Q	SHANK2_uc010rqn.1_Missense_Mutation_p.R504Q|SHANK2_uc001opz.2_Missense_Mutation_p.R497Q|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	713					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCTTCCAGCCGCTTCTCACG	0.721		NA											13	347					0	0	0	0
MMP1	4312	broad.mit.edu	37	11	102666294	102666294	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:102666294G>C	uc001phi.2	-	5	813	c.670C>G	c.(670-672)CTT>GTT	p.L224V	uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.L158V	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	224	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GAGAGTCCAAGAGAATGGCCG	0.423		NA											26	338					0	0	0	0
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Missense_Mutation	SNP	G	G	A	rs147951163	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:118773004G>A	uc001pug.2	-	6	2413	c.1448C>T	c.(1447-1449)CCG>CTG	p.P483L	BCL9L_uc009zal.2_Missense_Mutation_p.P478L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642		NA											84	81					0	0	0	0
CLEC4E	26253	broad.mit.edu	37	12	8693386	8693386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:8693386G>T	uc001quo.1	-	1	173	c.8C>A	c.(7-9)TCA>TAA	p.S3*		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	3	Cytoplasmic (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					TGATTTAGATGAATTCATTTT	0.269		NA											12	43					0.00185496	0.00227175	1	0
PRB2	653247	broad.mit.edu	37	12	11546897	11546897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:11546897C>G	uc010shk.1	-	3	150	c.115G>C	c.(115-117)GCA>CCA	p.A39P		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGCTCCTTGTGGA	0.502		NA											43	108					0	0	0	0
PRB2	653247	broad.mit.edu	37	12	11546907	11546907	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:11546907A>C	uc010shk.1	-	3	140	c.105T>G	c.(103-105)AAT>AAG	p.N35K		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTCCTTGTGGATTTCCTGGAG	0.488		NA											46	97					0	0	0	0
MANSC1	54682	broad.mit.edu	37	12	12483163	12483163	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:12483163C>A	uc001rai.1	-	4	1352	c.1094G>T	c.(1093-1095)GGC>GTC	p.G365V	MANSC1_uc010shm.1_Missense_Mutation_p.G299V|MANSC1_uc001raj.1_Missense_Mutation_p.G331V|MANSC1_uc009zht.1_Missense_Mutation_p.G284V	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	365	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGAGGAACTGCCTGGACTGGC	0.488		NA											18	48					2e-07	2.55e-07	1	0
GSG1	83445	broad.mit.edu	37	12	13243618	13243618	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:13243618G>A	uc001rbn.2	-	2	356	c.183C>T	c.(181-183)CCC>CCT	p.P61P	GSG1_uc001rbj.2_Silent_p.P48P|GSG1_uc001rbk.2_Silent_p.P48P|GSG1_uc001rbl.2_Silent_p.P48P|GSG1_uc001rbm.2_Silent_p.P48P|GSG1_uc001rbo.2_Silent_p.P61P|GSG1_uc001rbp.2_Silent_p.P61P|GSG1_uc001rbq.1_Silent_p.P61P	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	48						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCTCGCACAGGGGCTTGGGCA	0.542		NA											25	69					0	0	0	0
PFKM	5213	broad.mit.edu	37	12	48526750	48526750	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:48526750C>A	uc001rrc.2	+	5	507	c.337C>A	c.(337-339)CTC>ATC	p.L113I	PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Missense_Mutation_p.L184I|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Missense_Mutation_p.L113I|PFKM_uc001rrg.1_Missense_Mutation_p.L113I	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	113					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						GATCACCAATCTCTGTGTCAT	0.567		NA											14	60					0.00244969	0.00299273	1	0
HSD17B6	8630	broad.mit.edu	37	12	57167654	57167654	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57167654G>A	uc001smg.1	+	2	128	c.18G>A	c.(16-18)GCG>GCA	p.A6A		NM_003725	NP_003716	O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	6					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			upper_aerodigestive_tract(1)|pancreas(1)	2					Succinic acid(DB00139)	TCTACCTGGCGGCCTTCGTGG	0.438		NA											14	65					0	0	0	0
LRP1	4035	broad.mit.edu	37	12	57560805	57560805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57560805C>G	uc001snd.2	+	18	3356	c.2890C>G	c.(2890-2892)CGC>GGC	p.R964G	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	964	LDL-receptor class A 5.|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)	CTGTGGGGACCGCTCTGATGA	0.657		NA											20	87					0	0	0	0
WIF1	11197	broad.mit.edu	37	12	65461539	65461539	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:65461539G>C	uc001ssk.2	-	5	715	c.570C>G	c.(568-570)GGC>GGG	p.G190G		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	190	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CATTACAAAAGCCTCCATTTC	0.507		NA	T	HMGA2	pleomorphic salivary gland adenoma								9	26					0	0	0	0
GNPTAB	79158	broad.mit.edu	37	12	102159938	102159938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:102159938C>G	uc001tit.2	-	12	1722	c.1543G>C	c.(1543-1545)GCT>CCT	p.A515P		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	515	LNR 2.				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						AACTTATCAGCGAGCCAGGAA	0.483		NA											31	114					0	0	0	0
STAB2	55576	broad.mit.edu	37	12	104063402	104063402	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:104063402A>G	uc001tjw.2	+	21	2442	c.2256A>G	c.(2254-2256)GGA>GGG	p.G752G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	752	Extracellular (Potential).|EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CAGGAAATGGACAGGTGAATA	0.413		NA											13	67					0	0	0	0
SVOP	55530	broad.mit.edu	37	12	109328032	109328032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:109328032G>C	uc010sxh.1	-	10	1159	c.987C>G	c.(985-987)TTC>TTG	p.F329L		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	SV2 related protein	329	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0						CGTAGTAAGAGAATGCATTGG	0.493		NA											4	10					0	0	0	0
GPR109B	8843	broad.mit.edu	37	12	123200718	123200718	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:123200718G>A	uc001ucy.3	-	1	722	c.567C>T	c.(565-567)CAC>CAT	p.H189H	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	189	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	ACATAGCTTCGTGCCACCGGA	0.537		NA											17	66					0	0	0	0
PUS1	80324	broad.mit.edu	37	12	132425944	132425944	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:132425944C>G	uc001ujf.2	+	5	1131	c.652C>G	c.(652-654)CAG>GAG	p.Q218E	PUS1_uc001ujg.2_Missense_Mutation_p.Q190E|PUS1_uc001ujh.2_Missense_Mutation_p.Q190E|PUS1_uc001uji.2_Missense_Mutation_p.Q165E	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	218						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCGGGACGTTCAGGATGAGAC	0.592		NA											8	48					0	0	0	0
LIG4	3981	broad.mit.edu	37	13	108862659	108862659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr13:108862659T>G	uc001vqn.2	-	2	1231	c.958A>C	c.(958-960)AAA>CAA	p.K320Q	LIG4_uc001vqo.2_Missense_Mutation_p.K320Q|LIG4_uc010agg.1_Missense_Mutation_p.K253Q|LIG4_uc010agf.2_Missense_Mutation_p.K320Q|LIG4_uc001vqp.2_Missense_Mutation_p.K320Q	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	320					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATATCTGCTTTGAATGCATTA	0.338		NA						NHEJ					35	30					0	0	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111953845	111953845	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr13:111953845A>G	uc010tjo.1	+	19	2061	c.2009A>G	c.(2008-2010)TAT>TGT	p.Y670C	ARHGEF7_uc001vrv.3_Missense_Mutation_p.Y595C|ARHGEF7_uc001vrw.3_Missense_Mutation_p.Y595C|ARHGEF7_uc001vrx.3_Missense_Mutation_p.Y595C	NM_003899	NP_003890	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform a	Error:Variant_position_missing_in_Q14155_after_alignment					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GATACCGTATATGCATTAAAG	0.368		NA											39	37					0	0	0	0
LRP10	26020	broad.mit.edu	37	14	23346653	23346653	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:23346653G>C	uc001whd.2	+	7	2612	c.2059G>C	c.(2059-2061)GAT>CAT	p.D687H	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	687	Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCCCTGGAAGATGAGGACGA	0.682		NA											12	46					0	0	0	0
COCH	1690	broad.mit.edu	37	14	31346874	31346874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:31346874C>G	uc001wqr.2	+	4	259	c.179C>G	c.(178-180)TCT>TGT	p.S60C	COCH_uc001wqp.2_Missense_Mutation_p.S60C|COCH_uc001wqq.3_Missense_Mutation_p.S60C|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	60	LCCL.				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)		GAGGAATTCTCTGTGTATGGG	0.507		NA											9	34					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415341	105415341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:105415341T>A	uc010axc.1	-	7	6567	c.6447A>T	c.(6445-6447)AAA>AAT	p.K2149N	AHNAK2_uc001ypx.2_Missense_Mutation_p.K2049N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2149						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTGCTGTCTTTGGTAGTCA	0.592		NA											195	598					0	0	0	0
NIPA2	81614	broad.mit.edu	37	15	23006379	23006379	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:23006379G>A	uc001yux.2	-	8	1538	c.925C>T	c.(925-927)CTG>TTG	p.L309L	NIPA2_uc001yuy.2_Silent_p.L309L|NIPA2_uc001yuz.2_Silent_p.L309L|NIPA2_uc001yva.2_Silent_p.L290L|NIPA2_uc001yvb.2_Silent_p.L309L|NIPA2_uc010ayb.2_Silent_p.L290L	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	309	Cytoplasmic (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GACACAGGCAGACTTGCTAGA	0.373		NA											20	30					0	0	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060874	48060874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:48060874C>G	uc010bek.2	+	18	2222	c.1862C>G	c.(1861-1863)TCT>TGT	p.S621C	SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.S621C|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	621	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTGACAAGCTCTCGGAAATTT	0.428		NA											35	55					0	0	0	0
LIPC	3990	broad.mit.edu	37	15	58840724	58840724	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:58840724A>G	uc010bga.1	+	8	1612	c.1004A>G	c.(1003-1005)AAG>AGG	p.K335R	LIPC_uc010bfz.1_Missense_Mutation_p.K335R|LIPC_uc002afa.1_Missense_Mutation_p.K335R|LIPC_uc010bgb.1_Missense_Mutation_p.K233R|LIPC_uc010ugy.1_Missense_Mutation_p.K274R	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	335					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCGCGGAGCAAGAGCAAGAGG	0.627		NA											8	17					0	0	0	0
STOML1	9399	broad.mit.edu	37	15	74284510	74284510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:74284510G>A	uc002awe.2	-	1	126	c.55C>T	c.(55-57)CAG>TAG	p.Q19*	PML_uc002awm.2_5'Flank|PML_uc002awl.2_5'Flank|PML_uc002awj.1_5'Flank|PML_uc002awk.2_5'Flank|PML_uc002awn.2_5'Flank|PML_uc002awo.2_5'Flank|PML_uc002awp.2_5'Flank|PML_uc002awq.2_5'Flank|PML_uc002awr.2_5'Flank|PML_uc002aws.2_5'Flank|PML_uc002awt.2_5'Flank|PML_uc002awu.2_5'Flank|PML_uc002awv.2_5'Flank|PML_uc010ule.1_5'Flank|STOML1_uc002awf.2_Nonsense_Mutation_p.Q19*|STOML1_uc010bje.2_Nonsense_Mutation_p.Q19*|STOML1_uc010uld.1_5'UTR|STOML1_uc002awh.2_Nonsense_Mutation_p.Q19*|STOML1_uc002awg.2_Nonsense_Mutation_p.Q19*|STOML1_uc002awi.2_Intron	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	19						integral to membrane	sterol binding			skin(1)	1						CTCGACTGCTGGAAGCGGTCA	0.716		NA											7	55					0	0	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059275	79059275	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:79059275A>G	uc002bej.3	-	19	3189	c.2978T>C	c.(2977-2979)CTC>CCC	p.L993P	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	993	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCACCGACAGAGTGGCAGAGA	0.652		NA											3	68					0	0	0	0
PRR25	388199	broad.mit.edu	37	16	855768	855768	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr16:855768C>T	uc010uut.1	+	1	326	c.326C>T	c.(325-327)ACC>ATC	p.T109I		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	109										large_intestine(1)	1						GAGGTACAGACCGTTCCAGGG	0.667		NA											6	20					0	0	0	0
UBN1	29855	broad.mit.edu	37	16	4903155	4903155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr16:4903155G>C	uc002cyb.2	+	2	576	c.237G>C	c.(235-237)CAG>CAC	p.Q79H	UBN1_uc010uxw.1_Missense_Mutation_p.Q79H|UBN1_uc002cyc.2_Missense_Mutation_p.Q79H	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	79	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						AAGGCCTTCAGCCTGGAGATA	0.537		NA											11	38					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:7577580T>C	uc002gim.2	-	7	895	c.701A>G	c.(700-702)TAC>TGC	p.Y234C	TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	234	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)			45	25					0	0	0	0
MYH8	4626	broad.mit.edu	37	17	10303758	10303758	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:10303758C>A	uc002gmm.2	-	27	3779	c.3684G>T	c.(3682-3684)AAG>AAT	p.K1228N	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1228	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CAGTCTCCATCTTCAGCTCAC	0.488		NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				28	137					2.13e-12	2.86e-12	1	0
HEXIM2	124790	broad.mit.edu	37	17	43246702	43246702	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:43246702A>G	uc002iih.1	+	4	626	c.387A>G	c.(385-387)GAA>GAG	p.E129E	HEXIM2_uc010daf.1_Silent_p.E151E|HEXIM2_uc002iii.1_Silent_p.E129E|HEXIM2_uc002iij.1_Silent_p.E129E|uc002iik.1_RNA	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	129					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding				0						GGGTCCGCGAAGAGATGTTCG	0.627		NA											7	41					0	0	0	0
GH2	2689	broad.mit.edu	37	17	61958488	61958488	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:61958488C>T	uc002jco.1	-	3	254	c.192G>A	c.(190-192)AAG>AAA	p.K64K	GH2_uc002jcj.2_Silent_p.K64K|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.K64K|GH2_uc002jcm.1_Silent_p.K64K|GH2_uc002jcn.1_Intron	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	64						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						ACTTCTGCTCCTTCAGGATAT	0.507		NA											106	79					0	0	0	0
CSNK1D	1453	broad.mit.edu	37	17	80211118	80211118	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:80211118G>A	uc002kej.2	-	4	655	c.339C>T	c.(337-339)ATC>ATT	p.I113I	SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Silent_p.I113I|CSNK1D_uc002kei.2_Silent_p.I113I|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_5'UTR|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	113	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGATGCGACTGATCTGTGAGC	0.552		NA											55	40					0	0	0	0
DSC1	1823	broad.mit.edu	37	18	28713884	28713884	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:28713884C>A	uc002kwn.2	-	13	2348	c.2086G>T	c.(2086-2088)GCT>TCT	p.A696S	DSC1_uc002kwm.2_Missense_Mutation_p.A696S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	696	Helical; (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AACACCATAGCAAGAATAGCC	0.318		NA											24	23					3.1e-05	3.89e-05	1	0
SETBP1	26040	broad.mit.edu	37	18	42530735	42530735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:42530735C>A	uc010dni.2	+	4	1726	c.1430C>A	c.(1429-1431)TCA>TAA	p.S477*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	477						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGTCCCCCTCAGTTGGCCTT	0.488		NA							Schinzel-Giedion_syndrome				19	56					4.35e-09	5.68e-09	1	0
DYM	54808	broad.mit.edu	37	18	46889584	46889584	+	Silent	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:46889584A>T	uc002ldi.1	-	6	806	c.441T>A	c.(439-441)CTT>CTA	p.L147L	DYM_uc010xdf.1_Intron	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	147						Golgi apparatus					0						ATTCTTCCAAAAGATCTTCTG	0.348		NA											6	27					0	0	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619913	7619913	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:7619913C>T	uc010xjq.1	+	24	2994	c.2799C>T	c.(2797-2799)CAC>CAT	p.H933H	PNPLA6_uc002mgq.1_Silent_p.H885H|PNPLA6_uc010xjp.1_Silent_p.H858H|PNPLA6_uc002mgr.1_Silent_p.H885H|PNPLA6_uc002mgs.2_Silent_p.H923H|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	924	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GGCACCTGCACCTGCGCTGTC	0.711		NA											16	10					0	0	0	0
PRDX2	7001	broad.mit.edu	37	19	12912075	12912075	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:12912075T>A	uc002mvd.2	-	2	151	c.1A>T	c.(1-3)ATG>TTG	p.M1L	PRDX2_uc002mve.1_Missense_Mutation_p.M1L	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	1					anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						CCGGAGGCCATGACTGAAAGC	0.617		NA											5	5					0	0	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:17122306C>T	uc002nfb.2	-	5	627	c.595G>A	c.(595-597)GTC>ATC	p.V199I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	152						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTTGGAGAGACGGTGAAGATG	0.587		NA											20	65					0	0	0	0
ZNF181	339318	broad.mit.edu	37	19	35232698	35232698	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:35232698G>T	uc002nvu.3	+	4	1875	c.1412G>T	c.(1411-1413)AGT>ATT	p.S471I	ZNF181_uc010xsa.1_Missense_Mutation_p.S470I|ZNF181_uc010xsb.1_Missense_Mutation_p.S470I|ZNF181_uc010xsc.1_Missense_Mutation_p.S406I	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181 isoform 1	471	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGCCTTTAGTCATAGGTCA	0.388		NA											23	56					6.33e-13	8.55e-13	1	0
PSG8	440533	broad.mit.edu	37	19	43259226	43259226	+	Missense_Mutation	SNP	G	G	C	rs150991804		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:43259226G>C	uc002ouo.2	-	4	1000	c.902C>G	c.(901-903)ACG>AGG	p.T301R	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.T140R|PSG8_uc002ouh.2_Missense_Mutation_p.T301R|PSG8_uc010ein.2_Missense_Mutation_p.T179R|PSG8_uc002ouj.3_Missense_Mutation_p.T83R|PSG8_uc002ouk.3_Missense_Mutation_p.T140R|PSG8_uc002oul.3_Missense_Mutation_p.T301R|PSG8_uc002oum.3_Missense_Mutation_p.T208R|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.T208R	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	301	Ig-like C2-type 2.					extracellular region					0		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478		NA											92	77					0	0	0	0
CALM3	808	broad.mit.edu	37	19	47111573	47111573	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:47111573A>G	uc002pew.2	+	3	334	c.154A>G	c.(154-156)ATG>GTG	p.M52V	CALM3_uc010ekp.2_Missense_Mutation_p.M16V|CALM3_uc010xyc.1_Missense_Mutation_p.M52V	NM_005184	NP_005175	P62158	CALM_HUMAN	calmodulin 3	52	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			ovary(1)	1		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GCTGCAGGATATGATCAATGA	0.582		NA											28	20					0	0	0	0
ZNF8	7554	broad.mit.edu	37	19	58806142	58806142	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:58806142G>T	uc002qry.1	+	4	1098	c.968G>T	c.(967-969)TGC>TTC	p.C323F	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	323	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AAGTCTTTCTGCCATAGTACA	0.557		NA											25	23					2.4e-15	3.26e-15	1	0
APOB	338	broad.mit.edu	37	2	21224635	21224635	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:21224635C>G	uc002red.2	-	29	13787	c.13659G>C	c.(13657-13659)AAG>AAC	p.K4553N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4553					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGAGCAAGCTTCATGTAGG	0.348		NA											14	76					0	0	0	0
NMS	129521	broad.mit.edu	37	2	101097599	101097599	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:101097599G>A	uc002tan.1	+	8	391	c.384G>A	c.(382-384)GCG>GCA	p.A128A		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	128					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1						ATCACACTGCGACCTGGGGAC	0.393		NA											18	94					0	0	0	0
GCC2	9648	broad.mit.edu	37	2	109086566	109086566	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:109086566G>C	uc002tec.2	+	6	935	c.781G>C	c.(781-783)GCA>CCA	p.A261P	GCC2_uc002ted.2_Missense_Mutation_p.A160P	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	261	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						CCAGATTGAAGCATCAGCTAA	0.358		NA											26	91					0	0	0	0
GTDC1	79712	broad.mit.edu	37	2	144764954	144764954	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:144764954T>A	uc002tvp.2	-	7	949	c.670A>T	c.(670-672)ACA>TCA	p.T224S	GTDC1_uc002tvo.2_Missense_Mutation_p.T224S|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.T224S|GTDC1_uc010fnn.2_Missense_Mutation_p.T224S|GTDC1_uc002tvs.2_Missense_Mutation_p.T192S|GTDC1_uc010fno.2_Missense_Mutation_p.T95S|GTDC1_uc002tvt.1_Missense_Mutation_p.T224S	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	224					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCACAGTGTGTATCACACTCT	0.418		NA											34	33					0	0	0	0
RIF1	55183	broad.mit.edu	37	2	152285383	152285383	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:152285383A>C	uc002txm.2	+	9	1002	c.872A>C	c.(871-873)AAG>ACG	p.K291T	RIF1_uc002txl.2_Missense_Mutation_p.K291T|RIF1_uc010fnv.1_Missense_Mutation_p.K255T|RIF1_uc002txn.2_Missense_Mutation_p.K291T|RIF1_uc002txo.2_Missense_Mutation_p.K291T|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	291					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATTAAAAAGATAGCTTTT	0.323		NA											8	24					0	0	0	0
TANC1	85461	broad.mit.edu	37	2	160006935	160006935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:160006935G>T	uc002uag.2	+	7	824	c.550G>T	c.(550-552)GCA>TCA	p.A184S	TANC1_uc010fol.1_Intron|TANC1_uc010zcm.1_Missense_Mutation_p.A183S|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	184	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AAGCAGCACCGCATCTCCTAG	0.527		NA											16	13					1.68e-08	2.17e-08	1	0
SCN1A	6323	broad.mit.edu	37	2	166894613	166894613	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:166894613C>A	uc010zcz.1	-	15	2604	c.2586G>T	c.(2584-2586)TGG>TGT	p.W862C	SCN1A_uc002udo.3_Missense_Mutation_p.W742C|SCN1A_uc010fpk.2_Missense_Mutation_p.W714C	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	873	Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAACGTTGGCCAAGATTTTG	0.373		NA											11	75					2.81e-09	3.68e-09	1	0
TTN	7273	broad.mit.edu	37	2	179552943	179552943	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:179552943C>G	uc010zfg.1	-	124	28698	c.28474G>C	c.(28474-28476)GAG>CAG	p.E9492Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6153Q|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10419							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)			CATTCCTCCTCTGCAGATACT	0.398		NA											19	190					0	0	0	0
STAT1	6772	broad.mit.edu	37	2	191862724	191862724	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:191862724G>A	uc002usj.2	-	9	1031	c.643C>T	c.(643-645)CAC>TAC	p.H215Y	STAT1_uc010fse.1_Missense_Mutation_p.H215Y|STAT1_uc002usk.2_Missense_Mutation_p.H215Y|STAT1_uc002usl.2_Missense_Mutation_p.H217Y|STAT1_uc010fsf.1_Missense_Mutation_p.H27Y	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	215					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATTATTTTGTGAACTACTTCC	0.328		NA											7	72					0	0	0	0
OBFC2A	64859	broad.mit.edu	37	2	192548983	192548983	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:192548983A>G	uc002usx.2	+	5	886	c.406A>G	c.(406-408)ATG>GTG	p.M136V	OBFC2A_uc002usw.2_Missense_Mutation_p.M56V|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_Missense_Mutation_p.M56V	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	oligonucleotide/oligosaccharide-binding fold	136					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			GAATAATTCCATGAATAGTAA	0.299		NA											25	83					0	0	0	0
SPATS2L	26010	broad.mit.edu	37	2	201303979	201303979	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:201303979A>T	uc002uvn.3	+	7	932	c.580A>T	c.(580-582)ACA>TCA	p.T194S	SPATS2L_uc010fst.2_Missense_Mutation_p.T194S|SPATS2L_uc002uvo.3_Missense_Mutation_p.T134S|SPATS2L_uc002uvp.3_Missense_Mutation_p.T194S|SPATS2L_uc002uvq.3_Intron|SPATS2L_uc002uvr.3_Missense_Mutation_p.T194S|SPATS2L_uc010zhc.1_Missense_Mutation_p.T224S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	194						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						TAAGGCAAAAACATCTCCTGT	0.443		NA											25	21					0	0	0	0
VWC2L	402117	broad.mit.edu	37	2	215440475	215440475	+	Silent	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:215440475T>C	uc002vet.2	+	4	730	c.600T>C	c.(598-600)TGT>TGC	p.C200C	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	200						extracellular region					0						TCTGTCATTGTCACAACGGGG	0.468		NA											3	163					0	0	0	0
ANKMY1	51281	broad.mit.edu	37	2	241492385	241492385	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:241492385G>A	uc002vyz.1	-	3	388	c.159C>T	c.(157-159)TAC>TAT	p.Y53Y	ANKMY1_uc002vza.1_Silent_p.Y142Y|ANKMY1_uc010fzd.1_Silent_p.Y142Y|ANKMY1_uc002vzb.1_Silent_p.Y142Y|ANKMY1_uc002vzc.1_Silent_p.Y142Y|ANKMY1_uc002vzd.1_Silent_p.Y142Y|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Silent_p.Y44Y|ANKMY1_uc002vzf.2_Silent_p.Y44Y	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	53							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGTGGCTGAGGTAAAATGTGC	0.567		NA											36	56					0	0	0	0
PRNP	5621	broad.mit.edu	37	20	4680247	4680247	+	Silent	SNP	C	C	A	rs11538754		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr20:4680247C>A	uc002wku.2	+	2	744	c.381C>A	c.(379-381)GGC>GGA	p.G127G	PRNP_uc002wkv.2_Silent_p.G127G|PRNP_uc002wkw.2_Silent_p.G127G|PRNP_uc002wkx.2_Silent_p.G127G|PRNP_uc002wkt.1_Silent_p.G97G|PRNP_uc002wky.2_Silent_p.G127G|PRNP_uc010gbe.1_Silent_p.G127G	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	127	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)	GCCTTGGCGGCTACATGCTGG	0.557		NA											32	37					7.65e-07	9.73e-07	1	0
PCSK2	5126	broad.mit.edu	37	20	17462446	17462446	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr20:17462446G>C	uc002wpm.2	+	12	1968	c.1648G>C	c.(1648-1650)GAC>CAC	p.D550H	PCSK2_uc002wpl.2_Missense_Mutation_p.D531H|PCSK2_uc010zrm.1_Missense_Mutation_p.D515H|PCSK2_uc002wpn.2_Missense_Mutation_p.D204H	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	550					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGGGCTTTGACAAGTGGCC	0.597		NA											11	31					0	0	0	0
SON	6651	broad.mit.edu	37	21	34926744	34926744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr21:34926744C>T	uc002yse.1	+	3	5256	c.5207C>T	c.(5206-5208)CCG>CTG	p.P1736L	SON_uc002ysb.1_Missense_Mutation_p.P1736L|SON_uc002ysc.2_Missense_Mutation_p.P1736L|SON_uc002ysd.2_Missense_Mutation_p.P727L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.P727L	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1736					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TTAGTGAGACCGTTACTTCCT	0.453		NA											21	77					0	0	0	0
SMTN	6525	broad.mit.edu	37	22	31485785	31485785	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr22:31485785T>C	uc003ajl.1	+	7	790	c.572T>C	c.(571-573)CTG>CCG	p.L191P	SMTN_uc003ajk.1_Missense_Mutation_p.L191P|SMTN_uc003ajm.1_Missense_Mutation_p.L191P|SMTN_uc011ale.1_Missense_Mutation_p.L245P|SMTN_uc011alf.1_Missense_Mutation_p.L247P|SMTN_uc003ajn.1_Missense_Mutation_p.L183P|SMTN_uc011alg.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	191					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						ACACTCCTGCTGCGAGCCCCA	0.637		NA											14	51					0	0	0	0
CACNG2	10369	broad.mit.edu	37	22	37098605	37098605	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr22:37098605C>G	uc003aps.1	-	1	299	c.17G>C	c.(16-18)CGA>CCA	p.R6P	uc003apt.1_5'Flank	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	6					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0						TTGAACACCTCGATCAAACAG	0.468		NA											13	85					0	0	0	0
CMTM8	152189	broad.mit.edu	37	3	32398887	32398887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:32398887C>T	uc003cex.2	+	2	464	c.170C>T	c.(169-171)ACG>ATG	p.T57M	CMTM8_uc010hfu.2_Intron	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing	57	Helical; (Potential).|MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						CTGGTATGGACGCTTATTGCT	0.483		NA											22	60					0	0	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64641512	64641512	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:64641512T>G	uc003dmg.2	-	5	1041	c.1009A>C	c.(1009-1011)ATT>CTT	p.I337L	ADAMTS9_uc011bfo.1_Intron|ADAMTS9_uc003dmh.1_Missense_Mutation_p.I166L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.I337L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	337	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAATATTAATTAAATTTCCA	0.294		NA											18	6					0	0	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009911	8009911	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:8009911A>G	uc003gko.2	-	15	1534	c.1391T>C	c.(1390-1392)CTG>CCG	p.L464P	ABLIM2_uc003gkk.2_Missense_Mutation_p.L128P|ABLIM2_uc003gkl.2_Missense_Mutation_p.L192P|ABLIM2_uc003gkj.3_Missense_Mutation_p.L498P|ABLIM2_uc003gkm.3_Missense_Mutation_p.L412P|ABLIM2_uc003gkp.2_Missense_Mutation_p.L423P|ABLIM2_uc003gkq.2_Missense_Mutation_p.L464P|ABLIM2_uc003gkr.2_Missense_Mutation_p.L413P|ABLIM2_uc003gks.3_Missense_Mutation_p.L424P|MIR95_hsa-mir-95|MI0000097_5'Flank	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	464					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						CTTGAGCATCAGCCAGCTGCT	0.527		NA											3	73					0	0	0	0
HERC3	8916	broad.mit.edu	37	4	89583677	89583677	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:89583677C>T	uc003hrw.1	+	11	1408	c.1242C>T	c.(1240-1242)CTC>CTT	p.L414L	HERC3_uc011cdn.1_Silent_p.L296L|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	414					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GACAAAAACTCTCAGAACACA	0.343		NA											5	32					0	0	0	0
HERC3	8916	broad.mit.edu	37	4	89583679	89583679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:89583679C>T	uc003hrw.1	+	11	1410	c.1244C>T	c.(1243-1245)TCA>TTA	p.S415L	HERC3_uc011cdn.1_Missense_Mutation_p.S297L|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	415					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAAAAACTCTCAGAACACAAC	0.348		NA											5	33					0	0	0	0
UNC5C	8633	broad.mit.edu	37	4	96140364	96140364	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:96140364G>C	uc003htp.1	-	9	1555	c.1401C>G	c.(1399-1401)AAC>AAG	p.N467K	UNC5C_uc010ilc.1_Missense_Mutation_p.N486K|UNC5C_uc003htq.2_Missense_Mutation_p.N486K	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	467	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAATTGGAGAGTTGGTCATTG	0.522		NA											56	259					0	0	0	0
ELOVL6	79071	broad.mit.edu	37	4	110980841	110980841	+	Silent	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:110980841T>G	uc003hzz.2	-	4	417	c.291A>C	c.(289-291)TCA>TCC	p.S97S	ELOVL6_uc003iaa.2_Silent_p.S97S	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN	elongation of very long chain fatty acids-like	97					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GGTCACAAACTGACTGCTTCA	0.413		NA											10	40					0	0	0	0
ANK2	287	broad.mit.edu	37	4	114095604	114095604	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:114095604C>A	uc003ibe.3	+	2	217	c.117C>A	c.(115-117)GCC>GCA	p.A39A	ANK2_uc003ibd.3_Silent_p.A18A|ANK2_uc003ibf.3_Silent_p.A39A|ANK2_uc003ibc.2_Silent_p.A15A|ANK2_uc011cgb.1_Silent_p.A54A	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	39	ANK 1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCGTGCTGCCAGAGCAGGCA	0.433		NA											6	31					0.000157383	0.000195644	1	0
PDE5A	8654	broad.mit.edu	37	4	120427082	120427082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:120427082C>T	uc003idh.2	-	17	2350	c.2195G>A	c.(2194-2196)CGA>CAA	p.R732Q	uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.R690Q|PDE5A_uc003idg.2_Missense_Mutation_p.R680Q	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	732	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAATTCTCCTCGCCTCCTACA	0.318		NA											6	39					0	0	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	140744	140744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:140744T>C	uc003jak.2	+	1	372	c.322T>C	c.(322-324)TCC>CCC	p.S108P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	108					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTCAGCAGGCTCCAGGCCTGG	0.647		NA											10	63					0	0	0	0
ADCY2	108	broad.mit.edu	37	5	7757570	7757570	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:7757570C>A	uc003jdz.1	+	16	2032	c.1965C>A	c.(1963-1965)AGC>AGA	p.S655R	ADCY2_uc011cmo.1_Missense_Mutation_p.S475R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	655					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						AGCAATGCAGCAAAAAAGCCT	0.488		NA											73	98					2.41e-23	3.31e-23	1	0
SEMA5A	9037	broad.mit.edu	37	5	9066619	9066619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:9066619G>T	uc003jek.2	-	17	2925	c.2213C>A	c.(2212-2214)GCT>GAT	p.A738D		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	738	TSP type-1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ATTCGGATCAGCCAGGCGGGC	0.542		NA											32	150					9.78e-22	1.34e-21	1	0
ANKH	56172	broad.mit.edu	37	5	14758660	14758660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:14758660C>T	uc003jfm.3	-	3	692	c.361G>A	c.(361-363)GAC>AAC	p.D121N		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	121	Extracellular (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						ACCGACTCGTCCACATGGTGC	0.433		NA											12	63					0	0	0	0
ITGA1	3672	broad.mit.edu	37	5	52201636	52201636	+	Silent	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:52201636C>G	uc003jou.2	+	12	1405	c.1353C>G	c.(1351-1353)CTC>CTG	p.L451L	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_5'UTR	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	451	FG-GAP 4.|Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGATGTGCTCTATATTGCTG	0.433		NA											14	37					0	0	0	0
MAST4	375449	broad.mit.edu	37	5	66459360	66459360	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:66459360G>A	uc003jut.1	+	28	3854	c.3786G>A	c.(3784-3786)TCG>TCA	p.S1262S	MAST4_uc003juw.2_Silent_p.S1190S|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1454						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGCTGTCGCCCTCTTACG	0.667		NA											10	12					0	0	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139903729	139903729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:139903729G>T	uc003lfs.1	+	25	4520	c.4396G>T	c.(4396-4398)GAA>TAA	p.E1466*	ANKHD1_uc003lfq.1_Nonsense_Mutation_p.E1485*|ANKHD1_uc003lfr.2_Nonsense_Mutation_p.E1466*|ANKHD1_uc003lft.1_Nonsense_Mutation_p.E677*|ANKHD1_uc003lfu.1_Nonsense_Mutation_p.E946*|ANKHD1_uc003lfv.1_Nonsense_Mutation_p.E543*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.E205*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.E104*|ANKHD1_uc010jfl.2_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1466						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaaaaaagaggaacagaaaag	0.299		NA											9	14					1.77e-08	2.28e-08	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:140181071G>C	uc003lhf.2	+	1	289	c.289G>C	c.(289-291)GGG>CGG	p.G97R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G97R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	97	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557		NA											6	259					0	0	0	0
MSX2	4488	broad.mit.edu	37	5	174156337	174156337	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:174156337G>T	uc003mcy.2	+	2	643	c.555G>T	c.(553-555)CAG>CAT	p.Q185H		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	185	Homeobox.				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAGACCCAGGTCAAAATCT	0.547		NA											13	58					4.37e-10	5.78e-10	1	0
DSP	1832	broad.mit.edu	37	6	7585071	7585071	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:7585071A>G	uc003mxp.1	+	24	7855	c.7576A>G	c.(7576-7578)AGT>GGT	p.S2526G	DSP_uc003mxq.1_Missense_Mutation_p.S1927G	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2526	Plectin 13.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGACAGGCAGTCAGTATGA	0.473		NA											24	90					0	0	0	0
GCNT2	2651	broad.mit.edu	37	6	10529730	10529730	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:10529730C>T	uc010joo.2	+	3	1137	c.586C>T	c.(586-588)CCC>TCC	p.P196S	GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.P195S|GCNT2_uc010jon.2_Missense_Mutation_p.P195S	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	196	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCAAGACTTTCCCCTGAAAAC	0.532		NA											38	34					0	0	0	0
BTN1A1	696	broad.mit.edu	37	6	26505323	26505323	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:26505323T>C	uc003nif.3	+	3	618	c.598T>C	c.(598-600)TTC>CTC	p.F200L		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	200	Extracellular (Potential).|Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						AGAAGGTTTGTTCACTGTGGC	0.478		NA											12	71					0	0	0	0
ZNF322A	79692	broad.mit.edu	37	6	26638669	26638669	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:26638669A>G	uc003nil.3	-	4	742	c.113T>C	c.(112-114)ATA>ACA	p.I38T	ZNF322A_uc003nij.2_5'Flank	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322A	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0						ATGACCATCTATCTGAATAAT	0.343		NA											37	179					0	0	0	0
PGBD1	84547	broad.mit.edu	37	6	28251760	28251760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:28251760G>A	uc003nky.2	+	2	540	c.170G>A	c.(169-171)GGA>GAA	p.G57E	PGBD1_uc003nkz.2_Missense_Mutation_p.G57E	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	57	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						GAGGCTCACGGACCCCAGGAA	0.587		NA											53	52					0	0	0	0
HLA-G	3135	broad.mit.edu	37	6	29796426	29796426	+	Silent	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:29796426G>T	uc003nnw.2	+	4	628	c.450G>T	c.(448-450)CTG>CTT	p.L150L	HLA-G_uc011dmb.1_Silent_p.L122L|HLA-G_uc003raj.3_Silent_p.L155L|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	150	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						ACCTCGCCCTGAACGAGGACC	0.617		NA											22	94					3.88e-16	5.3e-16	1	0
FLOT1	10211	broad.mit.edu	37	6	30698343	30698343	+	Splice_Site	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:30698343C>G	uc003nrm.2	-	11	1116	c.952_splice	c.e11-1	p.M318_splice	FLOT1_uc011dmr.1_Splice_Site_p.M270_splice	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1							centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						CCCCACGCATCTGAGGGTTAA	0.562		NA											43	183					0	0	0	0
GRM4	2914	broad.mit.edu	37	6	34101096	34101096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:34101096G>A	uc003oir.3	-	1	348	c.178C>T	c.(178-180)CGG>TGG	p.R60W	GRM4_uc011dsn.1_Missense_Mutation_p.R60W|GRM4_uc010jvh.2_Missense_Mutation_p.R60W|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	60	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TCTGAGCCCCGGCCATGCACC	0.597		NA											6	40					0	0	0	0
RPL10A	4736	broad.mit.edu	37	6	35436736	35436736	+	Silent	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:35436736G>T	uc003okp.1	+	3	127	c.93G>T	c.(91-93)ACG>ACT	p.T31T	RPL10A_uc003okq.1_5'UTR|RPL10A_uc003okr.1_5'UTR|RPL10A_uc003oks.1_5'UTR	NM_007104	NP_009035	P62906	RL10A_HUMAN	ribosomal protein L10a	31					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			ovary(1)	1						TCCTGGAGACGGTGGAGTTGC	0.647		NA											18	19					1.02e-10	1.36e-10	1	0
BRPF3	27154	broad.mit.edu	37	6	36175199	36175199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:36175199G>A	uc003olv.3	+	4	1939	c.1715G>A	c.(1714-1716)AGA>AAA	p.R572K	BRPF3_uc010jwb.2_Missense_Mutation_p.R572K|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.R572K	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	572					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						ATTCGGAAGAGAGAGAAGCTC	0.537		NA											5	35					0	0	0	0
LMBRD1	55788	broad.mit.edu	37	6	70386390	70386390	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:70386390G>A	uc003pfa.2	-	15	1576	c.1461C>T	c.(1459-1461)TTC>TTT	p.F487F	LMBRD1_uc003pey.2_Silent_p.F283F|LMBRD1_uc003pez.2_Silent_p.F414F|LMBRD1_uc010kal.2_Silent_p.F414F|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	487	Helical; Name=9; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						TGAAGAACCAGAACTTGTGAA	0.383		NA											4	24					0	0	0	0
ROS1	6098	broad.mit.edu	37	6	117641132	117641132	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:117641132G>C	uc003pxp.1	-	36	6038	c.5839C>G	c.(5839-5841)CTG>GTG	p.L1947V	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Missense_Mutation_p.L273V	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1947	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGAGACGCAGAGTCAGTTTT	0.463		NA	T	GOPC|ROS1	glioblastoma|NSCLC								17	35					0	0	0	0
LRP11	84918	broad.mit.edu	37	6	150174187	150174187	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:150174187G>A	uc003qng.2	-	2	1047	c.723C>T	c.(721-723)GTC>GTT	p.V241V	LRP11_uc003qnh.1_Silent_p.V241V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	241	PKD.|Extracellular (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		ACTCATACTGGACGATGGCGT	0.562		NA											20	39					0	0	0	0
ZBTB2	57621	broad.mit.edu	37	6	151694704	151694704	+	Silent	SNP	C	C	T	rs142578824		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:151694704C>T	uc003qoh.2	-	2	204	c.69G>A	c.(67-69)CTG>CTA	p.L23L		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGCAGTCACACAGGAAACCAA	0.388		NA											7	32					0	0	0	0
PHF10	55274	broad.mit.edu	37	6	170112526	170112526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:170112526C>T	uc011egy.1	-	8	992	c.913G>A	c.(913-915)GAA>AAA	p.E305K	PHF10_uc011egz.1_Missense_Mutation_p.E303K|PHF10_uc011eha.1_Missense_Mutation_p.E156K	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	PHD finger protein 10 isoform a	305	Essential to induce neural progenitor proliferation (By similarity).				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			urinary_tract(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CGACCATCTTCGCCATCATCT	0.458		NA											18	57					0	0	0	0
CYP2W1	54905	broad.mit.edu	37	7	1026395	1026395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:1026395G>A	uc003sjq.1	+	5	794	c.781G>A	c.(781-783)GTG>ATG	p.V261M	CYP2W1_uc003sjr.1_Missense_Mutation_p.V261M	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	261					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)		GGGGGACCCCGTGTGCAGCTA	0.682		NA											7	28					0	0	0	0
TRA2A	29896	broad.mit.edu	37	7	23561386	23561386	+	Missense_Mutation	SNP	C	C	T	rs142235949		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:23561386C>T	uc003swi.2	-	2	324	c.110G>A	c.(109-111)CGT>CAT	p.R37H	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	37	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TGATGGACTACGAGATCCTGA	0.413		NA											28	44					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82545296	82545296	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:82545296A>G	uc003uhx.2	-	7	12295	c.12006T>C	c.(12004-12006)CTT>CTC	p.L4002L	PCLO_uc003uhv.2_Silent_p.L4002L|PCLO_uc010lec.2_Silent_p.L967L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3933					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTTACTACCAAGATGGGAAA	0.398		NA											141	174					0	0	0	0
STEAP2	261729	broad.mit.edu	37	7	89854672	89854672	+	Silent	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:89854672T>C	uc003ujz.2	+	2	669	c.276T>C	c.(274-276)GCT>GCC	p.A92A	STEAP2_uc003ujy.2_Silent_p.A134A|STEAP2_uc010len.2_Silent_p.A92A|STEAP2_uc003uka.2_Silent_p.A92A|STEAP2_uc003ukb.2_Silent_p.A92A|STEAP2_uc003ukc.2_Silent_p.A92A|STEAP2_uc003ukd.2_Silent_p.A92A	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	92					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)					TATTTGTTGCTATACACAGAG	0.378		NA											55	59					0	0	0	0
CDK14	5218	broad.mit.edu	37	7	90547015	90547015	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:90547015G>T	uc003uky.2	+	8	1024	c.802G>T	c.(802-804)GGG>TGG	p.G268W	CDK14_uc003ukz.1_Missense_Mutation_p.G250W|CDK14_uc010les.1_Missense_Mutation_p.G222W|CDK14_uc011khl.1_Missense_Mutation_p.G139W	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	268	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						CAGTGACACGGGGGAGTTAAA	0.443		NA											18	95					2.35e-11	3.15e-11	1	0
SAMD9L	219285	broad.mit.edu	37	7	92761382	92761382	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:92761382C>T	uc003umh.1	-	5	5119	c.3903G>A	c.(3901-3903)AGG>AGA	p.R1301R	SAMD9L_uc003umj.1_Silent_p.R1301R|SAMD9L_uc003umi.1_Silent_p.R1301R|SAMD9L_uc010lfb.1_Silent_p.R1301R|SAMD9L_uc003umk.1_Silent_p.R1301R|SAMD9L_uc010lfc.1_Silent_p.R1301R|SAMD9L_uc010lfd.1_Silent_p.R1301R|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1301										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTGTATTTCCTGAAACAAC	0.343		NA											23	51					0	0	0	0
ARPC1B	10095	broad.mit.edu	37	7	98984357	98984357	+	Silent	SNP	C	C	T	rs144704984		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:98984357C>T	uc003upz.2	+	3	203	c.114C>T	c.(112-114)AGC>AGT	p.S38S	ARPC1A_uc011kit.1_RNA|ARPC1B_uc003uqa.2_Silent_p.S38S|ARPC1B_uc003uqb.2_Silent_p.S38S|ARPC1B_uc003uqc.2_Silent_p.S38S	NM_005720	NP_005711	O15143	ARC1B_HUMAN	actin related protein 2/3 complex subunit 1B	38	WD 1.				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAAAGAGCGGTGCCAAAT	0.572		NA											26	156					0	0	0	0
ZNF655	79027	broad.mit.edu	37	7	99170398	99170398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:99170398C>G	uc003urh.2	+	3	1060	c.667C>G	c.(667-669)CAG>GAG	p.Q223E	ZNF655_uc010lga.2_Missense_Mutation_p.Q258E|ZNF655_uc010lgc.2_Missense_Mutation_p.Q258E|ZNF655_uc003urj.2_Missense_Mutation_p.Q223E|ZNF655_uc003urk.2_Missense_Mutation_p.Q60E|ZNF655_uc010lgd.2_Missense_Mutation_p.Q60E	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	223	C2H2-type 1.				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AATTTTCCATCAGAGCTCAGC	0.393		NA											5	38					0	0	0	0
ZAN	7455	broad.mit.edu	37	7	100361512	100361512	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:100361512G>C	uc003uwj.2	+	21	4235	c.4070G>C	c.(4069-4071)CGG>CCG	p.R1357P	ZAN_uc003uwk.2_Missense_Mutation_p.R1357P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1357	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCTGTGGACGGCTGGTCGAC	0.602		NA											68	79					0	0	0	0
TSGA14	95681	broad.mit.edu	37	7	130039885	130039885	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:130039885T>C	uc003vpz.2	-	10	1015	c.968A>G	c.(967-969)CAT>CGT	p.H323R	TSGA14_uc003vpy.2_Missense_Mutation_p.H85R|TSGA14_uc010lmf.2_Missense_Mutation_p.H120R|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	323					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					CTTACTAGGATGATCTGCAGG	0.368		NA											22	100					0	0	0	0
EPHB6	2051	broad.mit.edu	37	7	142564288	142564288	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:142564288C>T	uc011kst.1	+	10	2299	c.1512C>T	c.(1510-1512)ATC>ATT	p.I504I	EPHB6_uc011ksu.1_Silent_p.I504I|EPHB6_uc003wbs.2_Silent_p.I212I|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Silent_p.I212I|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	504	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CCAACAGCATCACGGTGTCCT	0.592		NA											34	46					0	0	0	0
TEX15	56154	broad.mit.edu	37	8	30695359	30695359	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:30695359T>G	uc003xil.2	-	3	7292	c.7292A>C	c.(7291-7293)AAT>ACT	p.N2431T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2431										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTATTTAAATTTTCCTGTTG	0.358		NA											47	121					0	0	0	0
EYA1	2138	broad.mit.edu	37	8	72229804	72229804	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:72229804T>C	uc003xys.3	-	6	826	c.539A>G	c.(538-540)TAC>TGC	p.Y180C	EYA1_uc003xyr.3_Missense_Mutation_p.Y175C|EYA1_uc003xyt.3_Missense_Mutation_p.Y147C|EYA1_uc010lzf.2_Missense_Mutation_p.Y107C|EYA1_uc003xyu.2_Missense_Mutation_p.Y180C|EYA1_uc011lfe.1_Missense_Mutation_p.Y174C|EYA1_uc003xyv.2_Missense_Mutation_p.Y58C	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	180					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGTAGCTGTATGGTGCCTG	0.438		NA											45	94					0	0	0	0
WWP1	11059	broad.mit.edu	37	8	87454892	87454892	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:87454892A>G	uc003ydt.2	+	18	2163	c.1883A>G	c.(1882-1884)TAT>TGT	p.Y628C	WWP1_uc010mai.2_Missense_Mutation_p.Y404C	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	628	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						AACCCAATGTATTGCTTATTT	0.318		NA											18	36					0	0	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972727	92972727	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:92972727G>T	uc003yfd.2	-	11	1642	c.1558C>A	c.(1558-1560)CGT>AGT	p.R520S	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R493S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R483S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R493S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R531S|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.R145S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R483S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	520	MYND-type.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCGCTTTACGGCCACAATTC	0.458		NA											22	50					1.5e-11	2.02e-11	1	0
KIAA1429	25962	broad.mit.edu	37	8	95531705	95531705	+	Splice_Site	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:95531705C>G	uc003ygo.1	-	9	2035	c.2022_splice	c.e9-1	p.R674_splice	KIAA1429_uc003ygp.2_Splice_Site_p.R674_splice|KIAA1429_uc010maz.1_Splice_Site	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1						mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTGAAGATATCTGTGGAAGAG	0.373		NA											10	57					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113599348	113599348	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:113599348C>G	uc003ynu.2	-	23	3991	c.3832G>C	c.(3832-3834)GGA>CGA	p.G1278R	CSMD3_uc003yns.2_Missense_Mutation_p.G550R|CSMD3_uc003ynt.2_Missense_Mutation_p.G1238R|CSMD3_uc011lhx.1_Missense_Mutation_p.G1174R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1278	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATATTGATTCCCTTTCCTGCT	0.338		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	46					0	0	0	0
SCRIB	23513	broad.mit.edu	37	8	144891191	144891191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:144891191G>A	uc003yzp.1	-	15	1710	c.1703C>T	c.(1702-1704)ACG>ATG	p.T568M	SCRIB_uc003yzo.1_Missense_Mutation_p.T568M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	568	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAAATGCACCGTGGGCTGTGC	0.657		NA											18	70					0	0	0	0
RORB	6096	broad.mit.edu	37	9	77286707	77286707	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:77286707C>A	uc004aji.2	+	9	1196	c.1147C>A	c.(1147-1149)CGA>AGA	p.R383R	RORB_uc004ajh.2_Silent_p.R372R	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	383	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						TTCATCAGACCGAGCCTGGCT	0.403		NA											23	19					3.01e-09	3.94e-09	1	0
VPS13A	23230	broad.mit.edu	37	9	79917956	79917956	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:79917956A>G	uc004akr.2	+	34	4198	c.3938A>G	c.(3937-3939)AAT>AGT	p.N1313S	VPS13A_uc004akp.3_Missense_Mutation_p.N1313S|VPS13A_uc004akq.3_Missense_Mutation_p.N1313S|VPS13A_uc004aks.2_Missense_Mutation_p.N1274S|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1313	TPR 5.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TTTAATGTAAATGCTCAGCTG	0.378		NA											76	37					0	0	0	0
HDHD3	81932	broad.mit.edu	37	9	116136605	116136605	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:116136605C>T	uc004bhi.1	-	2	814	c.30G>A	c.(28-30)CTG>CTA	p.L10L	HDHD3_uc004bhj.2_Silent_p.L10L|HDHD3_uc004bhk.2_Silent_p.L10L	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	10							phosphoglycolate phosphatase activity|protein binding				0						CATCCCACGTCAGCAGTCGTA	0.657		NA											7	40					0	0	0	0
COL27A1	85301	broad.mit.edu	37	9	117044557	117044557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:117044557G>C	uc011lxl.1	+	38	3718	c.3718G>C	c.(3718-3720)GGT>CGT	p.G1240R	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1240	Collagen-like 10.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CTCTCTTCAGGGTCCTGAAGG	0.468		NA											70	40					0	0	0	0
TRIM32	22954	broad.mit.edu	37	9	119461761	119461761	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:119461761C>T	uc004bjx.2	+	2	1898	c.1740C>T	c.(1738-1740)GGC>GGT	p.G580G	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.G580G	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	580	NHL 4.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						GCATTGCTGGCATGTGTGTGG	0.527		NA							Bardet-Biedl_syndrome				52	28					0	0	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130684360	130684360	+	Silent	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:130684360C>G	uc011mao.1	-	10	996	c.951G>C	c.(949-951)TCG>TCC	p.S317S	PIP5KL1_uc004bsu.2_Silent_p.S114S	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	317	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						TTTGGGCTCTCGACTCTTCCG	0.677		NA											2	7					0	0	0	0
TUBB2C	10383	broad.mit.edu	37	9	140137606	140137606	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:140137606G>A	uc004cmh.1	+	4	1038	c.936G>A	c.(934-936)ACG>ACA	p.T312T	TUBB2C_uc004cmg.1_Silent_p.T166T	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	312					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCTACCTGACGGTTGCCGCCG	0.567		NA											4	116					0	0	0	0
FAM47A	158724	broad.mit.edu	37	X	34148619	34148619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:34148619C>A	uc004ddg.2	-	1	1810	c.1777G>T	c.(1777-1779)GAG>TAG	p.E593*		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	593										ovary(4)|central_nervous_system(1)	5						GAAACGCACTCTTTTGTGCTT	0.468		NA											15	17					1.36e-06	1.72e-06	1	0
NKRF	55922	broad.mit.edu	37	X	118723979	118723979	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:118723979T>C	uc004erq.2	-	2	2062	c.1409A>G	c.(1408-1410)TAT>TGT	p.Y470C	NKRF_uc004err.2_Missense_Mutation_p.Y470C	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						CATCCTTTCATAGACATACTC	0.408		NA											3	81					0	0	0	0
CCDC15	80071	broad.mit.edu	37	11	124908334	124908334	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:124908334delA	uc001qbm.3	+	14	2678	c.2419delA	c.(2419-2421)AAAfs	p.K807fs		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	807	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CAGAATTAAGAAAAAGAGAGA	0.313		NA											2	4	---	---	---	---	NA	NA	NA	NA
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088189	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:17088187_17088189delGAA	uc002nfb.2	-	15	1920_1922	c.1888_1890delTTC	c.(1888-1890)TTCdel	p.F630del		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CCTGGTTTTCGAAGAAGGTCTCG	0.611		NA											21	112	---	---	---	---	NA	NA	NA	NA
AFF3	3899	broad.mit.edu	37	2	100209981	100209984	+	Frame_Shift_Del	DEL	GTTG	GTTG	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:100209981_100209984delGTTG	uc002tag.2	-	14	2375_2378	c.2139_2142delCAAC	c.(2137-2142)GCCAACfs	p.A713fs	AFF3_uc002taf.2_Frame_Shift_Del_p.A738fs|AFF3_uc010fiq.1_Frame_Shift_Del_p.A713fs|AFF3_uc010yvr.1_Frame_Shift_Del_p.A866fs|AFF3_uc002tah.1_Frame_Shift_Del_p.A738fs	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	713_714					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CACTGCCCCCGTTGGCAGCGGCCT	0.627		NA											37	42	---	---	---	---	NA	NA	NA	NA
TGFBI	7045	broad.mit.edu	37	5	135388800	135388801	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:135388800_135388801delCA	uc003lbf.3	+	8	1279_1280	c.1118_1119delCA	c.(1117-1119)CCAfs	p.P373fs	TGFBI_uc003lbg.3_Frame_Shift_Del_p.P106fs|TGFBI_uc003lbh.3_Frame_Shift_Del_p.P199fs|TGFBI_uc011cyb.1_Frame_Shift_Del_p.P199fs|TGFBI_uc010jed.2_Frame_Shift_Del_p.P106fs	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	373					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTACTCATCCCAGACTCAGGTA	0.569		NA											11	37	---	---	---	---	NA	NA	NA	NA
CXorf57	55086	broad.mit.edu	37	X	105868408	105868408	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:105868408delT	uc004emi.3	+	3	1026	c.875delT	c.(874-876)GTTfs	p.V292fs	CXorf57_uc004emj.3_Frame_Shift_Del_p.V292fs|CXorf57_uc004emh.2_Frame_Shift_Del_p.V292fs	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	292										ovary(1)|lung(1)|breast(1)	3						AGTTTGCGGGTTGGTTTAGTT	0.408		NA											47	41	---	---	---	---	NA	NA	NA	NA