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
KIAA1522	57648	broad.mit.edu	37	1	33237322	33237322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:33237322G>A	uc001bvv.2	+	6	2501	c.2365G>A	c.(2365-2367)GCC>ACC	p.A789T	KIAA1522_uc001bvu.1_Missense_Mutation_p.A848T|KIAA1522_uc010ohm.1_Missense_Mutation_p.A800T|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	789	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCTAGTTCCGCCCCAGGGCA	0.677		NA											3	31					0	0	0	0
C1orf87	127795	broad.mit.edu	37	1	60503714	60503714	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:60503714T>A	uc001czs.1	-	6	905	c.813A>T	c.(811-813)AAA>AAT	p.K271N		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	271							calcium ion binding			ovary(1)|breast(1)	2						CTGCAGCTGCTTTATTTTGCT	0.358		NA											19	38					0	0	0	0
BRDT	676	broad.mit.edu	37	1	92459659	92459659	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:92459659A>G	uc001dok.3	+	15	2484	c.2135A>G	c.(2134-2136)GAC>GGC	p.D712G	BRDT_uc001dol.3_Missense_Mutation_p.D712G|BRDT_uc010osz.1_Missense_Mutation_p.D716G|BRDT_uc009wdf.2_Missense_Mutation_p.D639G|BRDT_uc010ota.1_Missense_Mutation_p.D666G|BRDT_uc010otb.1_Missense_Mutation_p.D666G|BRDT_uc001dom.3_Missense_Mutation_p.D712G	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TGTGTGCAAGACACAACCTCT	0.348		NA											41	76					0	0	0	0
NBPF7	343505	broad.mit.edu	37	1	120387065	120387065	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:120387065T>A	uc010oxk.1	-	1	715	c.94A>T	c.(94-96)AAA>TAA	p.K32*		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	32						cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		ATCTCTGCTTTCTCACTGGAC	0.488		NA									OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	122					0	0	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891296	155891296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:155891296C>T	uc001fmi.1	-	10	1160	c.1136G>A	c.(1135-1137)GGA>GAA	p.G379E	KIAA0907_uc001fmj.1_Missense_Mutation_p.G379E|KIAA0907_uc009wrk.1_Missense_Mutation_p.G236E|KIAA0907_uc009wrl.1_RNA|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Silent_p.R345R	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	379	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTTGGTACTCCGTAGGGAGG	0.517		NA											25	63					0	0	0	0
OR10K1	391109	broad.mit.edu	37	1	158435777	158435777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:158435777G>A	uc010pij.1	+	1	426	c.426G>A	c.(424-426)ATG>ATA	p.M142I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GGGTGTGTATGGGACTAATGG	0.562		NA											62	121					0	0	0	0
TNN	63923	broad.mit.edu	37	1	175063297	175063297	+	Missense_Mutation	SNP	C	C	T	rs17374761		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:175063297C>T	uc001gkl.1	+	7	1609	c.1496C>T	c.(1495-1497)ACG>ATG	p.T499M	TNN_uc010pmx.1_Missense_Mutation_p.T499M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	499	Fibronectin type-III 3.				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)		ACTGTCCTGACGGGCCTGAAG	0.547		NA											16	32					0	0	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764562	205764562	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:205764562T>A	uc001hdh.1	-	9	1989	c.1117A>T	c.(1117-1119)ACC>TCC	p.T373S	SLC41A1_uc001hdg.1_5'UTR	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	373						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGCAGGAAGGTGGAGATGCGG	0.587		NA											19	29					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237982376	237982376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:237982376G>A	uc001hyl.1	+	101	14594	c.14474G>A	c.(14473-14475)GGA>GAA	p.G4825E	RYR2_uc010pyb.1_Missense_Mutation_p.G258E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4825	Helical; Name=M9; (Potential).				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)			CGTGCTGGAGGAGGGATCGGG	0.408		NA											15	37					0	0	0	0
RGS7	6000	broad.mit.edu	37	1	240975267	240975267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:240975267C>A	uc001hyv.2	-	14	1363	c.1033G>T	c.(1033-1035)GAA>TAA	p.E345*	RGS7_uc010pyh.1_Nonsense_Mutation_p.E319*|RGS7_uc010pyj.1_Nonsense_Mutation_p.E261*|RGS7_uc001hyu.2_Nonsense_Mutation_p.E345*|RGS7_uc009xgn.1_Nonsense_Mutation_p.E292*|RGS7_uc001hyw.2_Nonsense_Mutation_p.E345*|RGS7_uc001hyt.2_Nonsense_Mutation_p.E177*	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	345	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGGAACTGTTCTCTCCCAACT	0.413		NA											33	84					4.32e-19	5.37e-19	1	0
CUBN	8029	broad.mit.edu	37	10	16949520	16949520	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:16949520G>T	uc001ioo.2	-	49	7744	c.7692C>A	c.(7690-7692)TCC>TCA	p.S2564S	CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2564	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCTTCACTGGAGGTATAGG	0.463		NA											11	48					4.38e-07	4.97e-07	1	0
SPAG6	9576	broad.mit.edu	37	10	22676869	22676869	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:22676869T>A	uc001iri.2	+	6	938	c.796T>A	c.(796-798)TAC>AAC	p.Y266N	SPAG6_uc001irj.2_Missense_Mutation_p.Y266N|SPAG6_uc010qct.1_Missense_Mutation_p.Y236N|SPAG6_uc009xkh.2_Missense_Mutation_p.Y244N	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	266	ARM 6.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						CAAGGATGAATACGTGAAGAA	0.373		NA											19	39					0	0	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088789	43088789	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:43088789T>C	uc001jaf.1	-	5	1724	c.1609A>G	c.(1609-1611)AAG>GAG	p.K537E	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.K425E|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	537	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGGTCTGACTTCAAGCAGAAG	0.423		NA											27	110					0	0	0	0
SFTPD	6441	broad.mit.edu	37	10	81697729	81697729	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:81697729T>C	uc001kbh.2	-	8	1050	c.1007A>G	c.(1006-1008)AAC>AGC	p.N336S	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	336	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGGGGCCCAGTTGGAATAGAC	0.552		NA											25	145					0	0	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133758916	133758916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:133758916G>A	uc001lks.2	+	5	917	c.674G>A	c.(673-675)CGC>CAC	p.R225H	PPP2R2D_uc001lkr.2_Missense_Mutation_p.R31H|PPP2R2D_uc001lkt.2_Missense_Mutation_p.R31H|PPP2R2D_uc009yay.2_Missense_Mutation_p.R93H	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	258	WD 4.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GGGACCATCCGCCTGTGTGAC	0.468		NA											20	46					0	0	0	0
TAF10	6881	broad.mit.edu	37	11	6632501	6632501	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:6632501G>A	uc001mej.1	-	4	511	c.486C>T	c.(484-486)TTC>TTT	p.F162F		NM_006284	NP_006275	Q12962	TAF10_HUMAN	TBP-related factor 10	162					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATCTGAGATGAATTTCTGGG	0.488		NA											37	74					0	0	0	0
OR5D14	219436	broad.mit.edu	37	11	55563785	55563785	+	Missense_Mutation	SNP	A	A	G	rs149902192		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:55563785A>G	uc010rim.1	+	1	754	c.754A>G	c.(754-756)ATC>GTC	p.I252V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				TTCTATCACCATCTTCCATGG	0.458		NA											24	62					0	0	0	0
OR5D18	219438	broad.mit.edu	37	11	55587248	55587248	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:55587248T>A	uc010rin.1	+	1	143	c.143T>A	c.(142-144)GTG>GAG	p.V48E		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				GGGTTGATTGTGATCATCAAA	0.458		NA											69	119					0	0	0	0
KCNE3	10008	broad.mit.edu	37	11	74168458	74168458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:74168458G>A	uc001ovc.2	-	3	498	c.151C>T	c.(151-153)CCT>TCT	p.P51S	KCNE3_uc001ovd.2_Missense_Mutation_p.P51S	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related	51						integral to membrane	voltage-gated potassium channel activity			ovary(1)	1	Breast(11;2.86e-06)					TCACGGCCAGGTAGGCTGGCC	0.557		NA											19	116					0	0	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103175431	103175431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:103175431G>C	uc001pho.2	+	77	11508	c.11364G>C	c.(11362-11364)TGG>TGC	p.W3788C	DYNC2H1_uc001phn.1_Missense_Mutation_p.W3795C|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3788	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGTATCTTGGCTGCCAGTTC	0.378		NA											21	645					0	0	0	0
GALNT8	26290	broad.mit.edu	37	12	4854710	4854710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:4854710G>A	uc001qne.1	+	5	1068	c.976G>A	c.(976-978)GGG>AGG	p.G326R		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	326	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						GGCAGTTGATGGGTTTAACTG	0.493		NA											11	49					0	0	0	0
ENO2	2026	broad.mit.edu	37	12	7028878	7028878	+	Silent	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:7028878T>A	uc001qru.1	+	8	1038	c.816T>A	c.(814-816)ACT>ACA	p.T272T	ENO2_uc009zfi.1_Silent_p.T272T|ENO2_uc010sfq.1_Silent_p.T229T|ENO2_uc001qrv.1_Silent_p.T272T	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	272					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0						GATACATCACTGGGGACCAGC	0.542		NA											21	54					0	0	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358894	21358894	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:21358894G>C	uc001req.3	+	11	1528	c.1424G>C	c.(1423-1425)GGA>GCA	p.G475A		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	475	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CCAGTCTGTGGAAACAATGGA	0.378		NA											17	110					0	0	0	0
KCNH3	23416	broad.mit.edu	37	12	49951243	49951243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:49951243G>A	uc001ruh.1	+	15	3019	c.2759G>A	c.(2758-2760)CGG>CAG	p.R920Q	KCNH3_uc010smj.1_Missense_Mutation_p.R860Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	920	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CCGTGCCCTCGGGCATCGGGA	0.677		NA											4	18					0	0	0	0
KRT5	3852	broad.mit.edu	37	12	52909018	52909018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:52909018A>T	uc001san.2	-	9	1644	c.1481T>A	c.(1480-1482)GTC>GAC	p.V494D		NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	494	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTGCTTGTGACAACAGCTGC	0.323		NA											12	26					0	0	0	0
FAM119B	25895	broad.mit.edu	37	12	58166597	58166597	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:58166597G>C	uc001sqg.2	+	1	215	c.90G>C	c.(88-90)AAG>AAC	p.K30N	METTL1_uc010ssd.1_5'Flank|METTL1_uc009zqc.2_5'Flank|FAM119B_uc001sqf.2_Missense_Mutation_p.K30N|FAM119B_uc009zqd.2_RNA	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	30						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ACTCGGAGAAGAGCCAGTTCT	0.652		NA											16	42					0	0	0	0
OAS2	4939	broad.mit.edu	37	12	113435452	113435452	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:113435452T>A	uc001tuj.2	+	4	895	c.755T>A	c.(754-756)CTG>CAG	p.L252Q	OAS2_uc001tui.1_Missense_Mutation_p.L252Q	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	252	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						AGAACCGTACTGGAGCTGATC	0.502		NA											16	41					0	0	0	0
ULK1	8408	broad.mit.edu	37	12	132401102	132401102	+	Missense_Mutation	SNP	C	C	T	rs147399196	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:132401102C>T	uc001uje.2	+	20	2306	c.2038C>T	c.(2038-2040)CGG>TGG	p.R680W		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	680					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCTGGCCTGCGGCCAGGCGA	0.687		NA											5	47					0	0	0	0
POSTN	10631	broad.mit.edu	37	13	38137487	38137487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:38137487C>T	uc001uwo.3	-	23	2612	c.2494G>A	c.(2494-2496)GAA>AAA	p.E832K	POSTN_uc010tet.1_Missense_Mutation_p.E333K|POSTN_uc001uwp.3_Missense_Mutation_p.E775K|POSTN_uc001uwr.2_Missense_Mutation_p.E777K|POSTN_uc001uwq.2_Missense_Mutation_p.E747K	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	832					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GAACGACCTTCCCTTAATCGT	0.299		NA											16	39					0	0	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281497	49281497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:49281497G>A	uc010acx.1	+	6	1227	c.544G>A	c.(544-546)GGC>AGC	p.G182S	CYSLTR2_uc010acy.1_Missense_Mutation_p.G182S|CYSLTR2_uc010acz.1_Missense_Mutation_p.G182S|CYSLTR2_uc010ada.1_Missense_Mutation_p.G182S|CYSLTR2_uc010adb.1_Missense_Mutation_p.G182S|CYSLTR2_uc010adc.1_Missense_Mutation_p.G182S|CYSLTR2_uc010add.1_Missense_Mutation_p.G182S|CYSLTR2_uc010acw.1_Missense_Mutation_p.G182S|CYSLTR2_uc001vck.2_Missense_Mutation_p.G182S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	182	Extracellular (Potential).				immune response	integral to membrane|plasma membrane				lung(2)	2		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGAGCAGAACGGCAGTGTCAC	0.483		NA											39	122					0	0	0	0
DIAPH3	81624	broad.mit.edu	37	13	60485887	60485887	+	Silent	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:60485887A>T	uc001vht.2	-	20	2568	c.2349T>A	c.(2347-2349)CCT>CCA	p.P783P	DIAPH3_uc001vhu.2_Silent_p.P520P|DIAPH3_uc001vhv.2_Silent_p.P361P	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	783	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAACTGCTCAGGTTCACATA	0.348		NA											30	56					0	0	0	0
GPC5	2262	broad.mit.edu	37	13	92797193	92797193	+	Silent	SNP	C	C	T	rs147244156		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:92797193C>T	uc010tif.1	+	7	1878	c.1512C>T	c.(1510-1512)TGC>TGT	p.C504C		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	504						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443		NA											16	62					0	0	0	0
TTC5	91875	broad.mit.edu	37	14	20768886	20768886	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:20768886C>A	uc001vwt.2	-	3	333	c.276G>T	c.(274-276)CTG>CTT	p.L92L	TTC5_uc001vwu.2_5'UTR	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	92	TPR 1.				DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CAGCCTTTGACAGAAGCTCCT	0.532		NA											62	64					4.17e-40	5.25e-40	1	0
JUB	84962	broad.mit.edu	37	14	23450599	23450599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:23450599G>A	uc001whz.2	-	1	1253	c.877C>T	c.(877-879)CGA>TGA	p.R293*		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	293	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		CCGGCTTCTCGCCCACCGGTG	0.706		NA											10	10					0	0	0	0
C14orf105	55195	broad.mit.edu	37	14	57938276	57938276	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:57938276G>T	uc001xcy.2	-	6	831	c.688C>A	c.(688-690)CAA>AAA	p.Q230K	C14orf105_uc010trl.1_Missense_Mutation_p.Q270K|C14orf105_uc010trm.1_Missense_Mutation_p.Q141K|C14orf105_uc010trn.1_Missense_Mutation_p.Q141K|C14orf105_uc001xcz.2_Missense_Mutation_p.Q229K	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	230											0						TTCACTGCTTGATGTTTCAAA	0.358		NA											12	21					1.62e-10	1.93e-10	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72054661	72054661	+	Silent	SNP	C	C	T	rs112129340		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:72054661C>T	uc001xms.2	+	2	420	c.72C>T	c.(70-72)GAC>GAT	p.D24D	SIPA1L1_uc001xmt.2_Silent_p.D24D|SIPA1L1_uc001xmu.2_Silent_p.D24D|SIPA1L1_uc001xmv.2_Silent_p.D24D	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	24					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTGGCACAGACGGCACCCCCA	0.522		NA											48	93					0	0	0	0
NRXN3	9369	broad.mit.edu	37	14	80328189	80328189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:80328189C>T	uc001xun.2	+	17	3559	c.3068C>T	c.(3067-3069)ACG>ATG	p.T1023M	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.T599M|NRXN3_uc010asw.2_Missense_Mutation_p.T421M|NRXN3_uc001xur.3_Missense_Mutation_p.T394M	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1605	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGGACGAGACGCGGAACTAC	0.562		NA											8	18					0	0	0	0
FLRT2	23768	broad.mit.edu	37	14	86088735	86088735	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:86088735C>G	uc001xvr.2	+	2	1644	c.877C>G	c.(877-879)CAA>GAA	p.Q293E	FLRT2_uc010atd.2_Missense_Mutation_p.Q293E	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	293	Extracellular (Potential).|LRR 10.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATGCTGACTCAAGGGGTTTT	0.463		NA											75	205					0	0	0	0
CAPN3	825	broad.mit.edu	37	15	42693865	42693865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:42693865C>T	uc001zpn.1	+	11	1687	c.1381C>T	c.(1381-1383)CGT>TGT	p.R461C	CAPN3_uc001zpk.1_Missense_Mutation_p.R234C|CAPN3_uc001zpl.1_Missense_Mutation_p.R374C|CAPN3_uc010udf.1_Missense_Mutation_p.R374C|CAPN3_uc010udg.1_Missense_Mutation_p.R326C|CAPN3_uc001zpo.1_Missense_Mutation_p.R461C|CAPN3_uc001zpp.1_Missense_Mutation_p.R413C|CAPN3_uc001zpq.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	461	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCCTCAGTACCGTCTGAAGCT	0.582		NA											7	24					0	0	0	0
LINS1	55180	broad.mit.edu	37	15	101120487	101120487	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:101120487T>G	uc002bwe.2	-	4	761	c.470A>C	c.(469-471)TAT>TCT	p.Y157S	LINS1_uc002bwf.2_Missense_Mutation_p.Y157S|LINS1_uc002bwg.2_Missense_Mutation_p.Y157S|LINS1_uc002bwh.2_Missense_Mutation_p.Y157S|LINS1_uc010usa.1_Missense_Mutation_p.Y38S|LINS1_uc002bwi.2_Missense_Mutation_p.Y157S	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	157											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			CAATTGGAAATATAGAAGCAA	0.254		NA											9	17					0	0	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554275	20554275	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:20554275C>A	uc002dhj.3	-	13	1680	c.1470G>T	c.(1468-1470)GAG>GAT	p.E490D	ACSM2B_uc002dhk.3_Missense_Mutation_p.E490D|ACSM2B_uc010bwf.1_Missense_Mutation_p.E490D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	490					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.E490A(1)		skin(3)|ovary(1)|central_nervous_system(1)	5						TCACAGCCGTCTCAACCACAG	0.522		NA											15	60					1.15e-07	1.32e-07	1	0
CDH8	1006	broad.mit.edu	37	16	61687870	61687870	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:61687870T>A	uc002eog.1	-	12	2294	c.2042A>T	c.(2041-2043)GAC>GTC	p.D681V		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	681	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTTGCAATGTCAAAAGCCTC	0.398		NA											43	88					0	0	0	0
EXOC3L	283849	broad.mit.edu	37	16	67218811	67218811	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:67218811G>A	uc002erx.1	-	12	2140	c.1899C>T	c.(1897-1899)CTC>CTT	p.L633L	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Silent_p.L284L|EXOC3L_uc002ery.1_Silent_p.L535L|EXOC3L_uc010vje.1_Silent_p.L530L	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	633					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		TCACCAAACTGAGGAAAAGCT	0.687		NA											3	18					0	0	0	0
TMCO7	79613	broad.mit.edu	37	16	68894425	68894425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:68894425G>T	uc002ewi.3	+	2	745	c.733G>T	c.(733-735)GAG>TAG	p.E245*	TMCO7_uc002ewh.2_Nonsense_Mutation_p.E245*	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	245						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		ACCTGCAGAAGAGGTAAATAT	0.428		NA											14	40					1.58e-08	1.84e-08	1	0
ZFHX3	463	broad.mit.edu	37	16	72993956	72993956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:72993956G>A	uc002fck.2	-	2	762	c.89C>T	c.(88-90)ACC>ATC	p.T30I	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	30					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AGGGAGGTGGGTGCTGTTGAG	0.627		NA											17	59					0	0	0	0
LDHD	197257	broad.mit.edu	37	16	75148731	75148731	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:75148731G>T	uc002fdm.2	-	4	510	c.463C>A	c.(463-465)CCC>ACC	p.P155T	LDHD_uc002fdn.2_Missense_Mutation_p.P155T	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	155	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						CTACCCACGGGAAACCAGAGG	0.657		NA											9	32					1.77e-08	2.05e-08	1	0
ATP2A3	489	broad.mit.edu	37	17	3853822	3853822	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:3853822T>C	uc002fxb.1	-	7	764	c.613A>G	c.(613-615)AAG>GAG	p.K205E	ATP2A3_uc002fwx.1_Missense_Mutation_p.K205E|ATP2A3_uc002fwy.1_Missense_Mutation_p.K205E|ATP2A3_uc002fwz.1_Missense_Mutation_p.K205E|ATP2A3_uc002fxa.1_Missense_Mutation_p.K205E|ATP2A3_uc002fxc.1_Missense_Mutation_p.K205E|ATP2A3_uc002fxd.1_Missense_Mutation_p.K205E	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	205	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCATGTTCTTCTTGTCCTGG	0.428		NA											12	71					0	0	0	0
FXR2	9513	broad.mit.edu	37	17	7495898	7495898	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7495898T>C	uc002gia.1	-	15	1976	c.1749A>G	c.(1747-1749)CAA>CAG	p.Q583Q	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	583						cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		GATTACGACGTTGAGGTCTTG	0.542		NA											49	125					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Silent	SNP	C	C	A	rs55863639		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7579312C>A	uc002gim.2	-	4	569	c.375G>T	c.(373-375)ACG>ACT	p.T125T	TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	125	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			23	55					7.88e-20	9.82e-20	1	0
MYH4	4622	broad.mit.edu	37	17	10369620	10369620	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:10369620G>A	uc002gmn.2	-	4	429	c.318C>T	c.(316-318)CTC>CTT	p.L106L	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	106	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						AACGCTCTTTGAGGTTATACA	0.453		NA											34	92					0	0	0	0
DBF4B	80174	broad.mit.edu	37	17	42828265	42828265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:42828265G>A	uc002ihf.2	+	14	1705	c.1492G>A	c.(1492-1494)GAA>AAA	p.E498K	DBF4B_uc010wjc.1_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	498					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CCTCTTCCCTGAAGCCAGACC	0.587		NA											20	105					0	0	0	0
ZNF652	22834	broad.mit.edu	37	17	47394438	47394438	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:47394438A>C	uc002iov.3	-	2	1114	c.650T>G	c.(649-651)GTA>GGA	p.V217G	ZNF652_uc002iow.2_Missense_Mutation_p.V217G|ZNF652_uc002iou.3_Intron	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGTGGCTCTACACTCTTCCT	0.522		NA											19	42					0	0	0	0
ABCA8	10351	broad.mit.edu	37	17	66865847	66865847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:66865847C>G	uc002jhp.2	-	36	4764	c.4585G>C	c.(4585-4587)GAG>CAG	p.E1529Q	ABCA8_uc002jhq.2_Missense_Mutation_p.E1569Q|ABCA8_uc010wqq.1_Missense_Mutation_p.E1564Q	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1529						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TTACCCTTCTCTAATTTGAAG	0.363		NA											56	128					0	0	0	0
LRRC30	339291	broad.mit.edu	37	18	7231433	7231433	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:7231433G>A	uc010wzk.1	+	1	297	c.297G>A	c.(295-297)CTG>CTA	p.L99L		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	99	LRR 2.									ovary(1)|liver(1)	2						TCGTGGTCCTGAACTTGTGCG	0.577		NA											10	29					0	0	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256801	9256801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:9256801C>G	uc002knv.2	+	9	3793	c.3536C>G	c.(3535-3537)TCT>TGT	p.S1179C	ANKRD12_uc002knw.2_Missense_Mutation_p.S1156C|ANKRD12_uc002knx.2_Missense_Mutation_p.S1156C|ANKRD12_uc010dkx.1_Missense_Mutation_p.S886C	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1179						nucleus				ovary(2)|central_nervous_system(1)	3						GGGAAGTCATCTTTTGTTTCA	0.383		NA											16	48					0	0	0	0
CCDC11	220136	broad.mit.edu	37	18	47777156	47777156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:47777156T>A	uc002lee.2	-	5	1059	c.968A>T	c.(967-969)GAA>GTA	p.E323V		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	323	Potential.									ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATCTGCCTCTTCCTGTAAGTC	0.428		NA											52	182					0	0	0	0
PIGN	23556	broad.mit.edu	37	18	59742026	59742026	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:59742026C>A	uc002lii.3	-	30	3053	c.2605G>T	c.(2605-2607)GAC>TAC	p.D869Y	PIGN_uc002lij.3_Missense_Mutation_p.D869Y	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	869	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				GCCATAATGTCTGATATGACG	0.318		NA											13	17					1.36e-06	1.52e-06	1	0
BTBD2	55643	broad.mit.edu	37	19	1993106	1993106	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:1993106C>T	uc002lup.1	-	3	597	c.597G>A	c.(595-597)AAG>AAA	p.K199K	BTBD2_uc002luo.1_5'Flank	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	199						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCGCGTACTTCTTGGCGG	0.632		NA											5	24					0	0	0	0
PLIN5	440503	broad.mit.edu	37	19	4523797	4523797	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:4523797C>G	uc002mas.2	-	8	1188	c.1135G>C	c.(1135-1137)GCG>CCG	p.A379P		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	379						lipid particle					0						AGGATGGGCGCGAAGGGTCCC	0.751		NA											12	25					0	0	0	0
ZNF700	90592	broad.mit.edu	37	19	12060067	12060067	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:12060067A>G	uc002msu.2	+	4	1354	c.1228A>G	c.(1228-1230)AGG>GGG	p.R410G	ZNF700_uc010xme.1_Missense_Mutation_p.R428G|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	410	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATATCATGAAAGGATTCACAC	0.443		NA											22	62					0	0	0	0
ZNF709	163051	broad.mit.edu	37	19	12575299	12575299	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:12575299T>C	uc002mtv.3	-	4	1598	c.1437A>G	c.(1435-1437)AAA>AAG	p.K479K	ZNF709_uc002mtw.3_Silent_p.K447K|ZNF709_uc002mtx.3_Silent_p.K479K	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	479	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACCACACTGTTTACATTCAT	0.398		NA											42	102					0	0	0	0
MAP1S	55201	broad.mit.edu	37	19	17844128	17844128	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:17844128G>T	uc002nhe.1	+	6	2924	c.2915G>T	c.(2914-2916)CGC>CTC	p.R972L	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R220L|MAP1S_uc010xpv.1_Missense_Mutation_p.R946L	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	972	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CAGCGCGTGCGCGCGCTCTGC	0.672		NA											8	12					0.00448238	0.00463789	1	0
ZNF626	199777	broad.mit.edu	37	19	20807449	20807449	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:20807449G>T	uc002npb.1	-	4	1384	c.1234C>A	c.(1234-1236)CTT>ATT	p.L412I	ZNF626_uc002npc.1_Missense_Mutation_p.L336I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	412	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TGTGTAGTAAGGTTAGAGGAG	0.403		NA											16	49					3.41e-10	4.03e-10	1	0
MIA	8190	broad.mit.edu	37	19	41281724	41281724	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:41281724C>T	uc002opb.3	+	2	343	c.195C>T	c.(193-195)CAC>CAT	p.H65H	MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_RNA|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank	NM_006533	NP_006524	Q16674	MIA_HUMAN	melanoma inhibitory activity precursor	65	SH3.				cell proliferation	extracellular space	growth factor activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TGACCATTCACCGGGGCCAAG	0.587		NA											33	62					0	0	0	0
PTOV1	53635	broad.mit.edu	37	19	50361873	50361873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:50361873C>T	uc002pqf.1	+	10	1174	c.1004C>T	c.(1003-1005)ACA>ATA	p.T335I	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.T303I|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	335	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GACCTGGAGACACTGAAGAGC	0.667		NA											4	9					0	0	0	0
ZNF845	91664	broad.mit.edu	37	19	53855800	53855800	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:53855800T>C	uc010ydv.1	+	4	1989	c.1872T>C	c.(1870-1872)GTT>GTC	p.V624V	ZNF845_uc010ydw.1_Silent_p.V624V	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	624	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACCTTGCAGTTCATTGGCGAA	0.363		NA											2	11					0	0	0	0
LILRA2	11027	broad.mit.edu	37	19	55086773	55086773	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:55086773C>T	uc002qgg.3	+	5	795	c.706C>T	c.(706-708)CCC>TCC	p.P236S	LILRA2_uc010ern.2_Missense_Mutation_p.P236S|LILRA2_uc002qgf.2_Missense_Mutation_p.P236S|LILRA2_uc010yfe.1_Missense_Mutation_p.P236S|LILRA2_uc010yff.1_Missense_Mutation_p.P224S|LILRA2_uc010ero.2_Missense_Mutation_p.P224S|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	236	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		TATGGTGGCCCCCGGGGAGAG	0.567		NA											47	83					0	0	0	0
NLRP7	199713	broad.mit.edu	37	19	55450643	55450643	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:55450643A>T	uc002qih.3	-	4	1620	c.1544T>A	c.(1543-1545)CTG>CAG	p.L515Q	NLRP7_uc002qig.3_Missense_Mutation_p.L515Q|NLRP7_uc002qii.3_Missense_Mutation_p.L515Q|NLRP7_uc010esk.2_Missense_Mutation_p.L515Q|NLRP7_uc010esl.2_Missense_Mutation_p.L543Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	515							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TACTTGAATCAGGTCGGGGTT	0.567		NA											28	66					0	0	0	0
NLRP4	147945	broad.mit.edu	37	19	56370318	56370318	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:56370318G>T	uc002qmd.3	+	3	1981	c.1559G>T	c.(1558-1560)GGC>GTC	p.G520V	NLRP4_uc002qmf.2_Missense_Mutation_p.G445V|NLRP4_uc010etf.2_Missense_Mutation_p.G351V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	520							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCGTTTTTTGGCTTCCAACTG	0.428		NA											24	61					1.55e-16	1.91e-16	1	0
REG3G	130120	broad.mit.edu	37	2	79255001	79255001	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:79255001G>A	uc002snw.2	+	5	487	c.402G>A	c.(400-402)GAG>GAA	p.E134E	REG3G_uc002snx.2_Silent_p.E134E|REG3G_uc010ffu.2_Silent_p.E88E	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	134	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						TTGCATGGGAGAAAAATCCCT	0.507		NA											36	41					0	0	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257667	114257667	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:114257667C>A	uc002tjw.3	+	1	1007	c.834C>A	c.(832-834)GCC>GCA	p.A278A		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	278	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCGCCTATGCCGGGGCACCGA	0.701		NA											24	29					2.61e-14	3.15e-14	1	0
DPP10	57628	broad.mit.edu	37	2	116485420	116485420	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:116485420A>G	uc002tla.1	+	8	1062	c.605A>G	c.(604-606)TAT>TGT	p.Y202C	DPP10_uc002tlb.1_Missense_Mutation_p.Y152C|DPP10_uc002tlc.1_Missense_Mutation_p.Y198C|DPP10_uc002tle.2_Missense_Mutation_p.Y206C|DPP10_uc002tlf.1_Missense_Mutation_p.Y195C	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	202	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						AATATCTACTATCAACCTGAT	0.313		NA											7	32					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141771236	141771236	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:141771236T>G	uc002tvj.1	-	14	3241	c.2269A>C	c.(2269-2271)ATG>CTG	p.M757L	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	757	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACCATTCATATAATCAGTC	0.393		NA								TSP Lung(27;0.18)			33	78					0	0	0	0
GALNT13	114805	broad.mit.edu	37	2	155102432	155102432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:155102432G>A	uc002tyr.3	+	7	1361	c.794G>A	c.(793-795)CGC>CAC	p.R265H	GALNT13_uc002tyt.3_Missense_Mutation_p.R265H|GALNT13_uc010foc.1_Missense_Mutation_p.R84H|GALNT13_uc010fod.2_Missense_Mutation_p.R18H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	265	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CTGAATTTCCGCTGGTATCCT	0.403		NA											22	47					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166852534	166852534	+	Missense_Mutation	SNP	G	G	T	rs143088184		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:166852534G>T	uc010zcz.1	-	24	4555	c.4537C>A	c.(4537-4539)CCT>ACT	p.P1513T		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1524	IV.					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)	CCTGGTCGAGGTATAGGCTTT	0.338		NA											22	69					2.4e-15	2.91e-15	1	0
LRP2	4036	broad.mit.edu	37	2	170063445	170063445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:170063445C>T	uc002ues.2	-	39	6998	c.6785G>A	c.(6784-6786)CGT>CAT	p.R2262H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2262	LDL-receptor class B 23.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCATTGATACGAATCCTTGC	0.433		NA											35	107					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179587087	179587087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:179587087A>G	uc010zfg.1	-	74	18919	c.18695T>C	c.(18694-18696)TTA>TCA	p.L6232S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L2893S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7159							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)			CAAAATTTTTAAAGTTGCCAC	0.423		NA											13	28					0	0	0	0
CCDC108	255101	broad.mit.edu	37	2	219886544	219886544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:219886544G>T	uc002vjl.1	-	18	3172	c.3088C>A	c.(3088-3090)CTG>ATG	p.L1030M	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1030						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGCTCCAGGTAGAGGCGG	0.602		NA											79	114					2.44e-56	3.08e-56	1	0
COL4A3	1285	broad.mit.edu	37	2	228148997	228148997	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:228148997A>G	uc002vom.1	+	34	2979	c.2817A>G	c.(2815-2817)AAA>AAG	p.K939K	COL4A3_uc002von.1_Silent_p.K939K|COL4A3_uc002voo.1_Silent_p.K939K|COL4A3_uc002vop.1_Silent_p.K939K|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	939	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGAGATAAAGGAAATCCCG	0.458		NA											13	30					0	0	0	0
ILKAP	80895	broad.mit.edu	37	2	239090740	239090740	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:239090740G>T	uc002vxv.2	-	9	932	c.802C>A	c.(802-804)CGG>AGG	p.R268R	ILKAP_uc010zns.1_Silent_p.R200R|ILKAP_uc002vxw.2_Silent_p.R148R|ILKAP_uc010znt.1_Silent_p.R148R	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	268	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATCCTCATCCGCTCTTCATAC	0.498		NA											84	187					2.56e-40	3.23e-40	1	0
SNRPB2	6629	broad.mit.edu	37	20	16712386	16712386	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:16712386T>C	uc002wph.1	+	2	255	c.39T>C	c.(37-39)AAT>AAC	p.N13N	SNRPB2_uc002wpi.1_Silent_p.N13N	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	13	RRM 1.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						ATATCAACAATATGAATGACA	0.274		NA											39	102					0	0	0	0
CST11	140880	broad.mit.edu	37	20	23433318	23433318	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:23433318G>A	uc002wtf.1	-	1	165	c.131C>T	c.(130-132)GCG>GTG	p.A44V	CST11_uc002wtg.1_Missense_Mutation_p.A44V	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	44					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GCTGTCCTTCGCATAGTTTTC	0.483		NA											45	113					0	0	0	0
CST5	1473	broad.mit.edu	37	20	23860167	23860167	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:23860167G>A	uc002wtr.1	-	1	214	c.147C>T	c.(145-147)GAC>GAT	p.D49D		NM_001900	NP_001891	P28325	CYTD_HUMAN	cystatin D precursor	49						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding				0						TGATGGCAAAGTCCAGGGCAC	0.577		NA											59	130					0	0	0	0
MYLK2	85366	broad.mit.edu	37	20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:30414610G>A	uc002wwq.2	+	8	1195	c.1093G>A	c.(1093-1095)GGA>AGA	p.G365R	MYLK2_uc002wws.2_5'UTR	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	365	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCGAGGGCGGAGAGCTCTT	0.587		NA											9	25					0	0	0	0
PTGIS	5740	broad.mit.edu	37	20	48124503	48124503	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:48124503A>G	uc002xut.2	-	10	1511	c.1457T>C	c.(1456-1458)ATG>ACG	p.M486T	PTGIS_uc010zyi.1_Missense_Mutation_p.M347T	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	486					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TTCCGGCTGCATCAGACCGAA	0.527		NA											15	36					0	0	0	0
LAMA5	3911	broad.mit.edu	37	20	60893707	60893707	+	Splice_Site	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:60893707C>A	uc002ycq.2	-	53	7110	c.7043_splice	c.e53-1	p.L2348_splice		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGCCAGCACTAGCCGAGAC	0.677		NA											18	23					5.39e-06	5.95e-06	1	0
BTG3	10950	broad.mit.edu	37	21	18971032	18971032	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr21:18971032T>A	uc002ykk.2	-	4	682	c.422A>T	c.(421-423)GAT>GTT	p.D141V	BTG3_uc002ykl.2_Missense_Mutation_p.D185V	NM_006806	NP_006797	Q14201	BTG3_HUMAN	B-cell translocation gene 3 isoform b	141					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm					0				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGAATGATAATCAGAGGTAAC	0.423		NA											12	25					0	0	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744360	31744360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr21:31744360C>A	uc002ynz.3	-	1	198	c.172G>T	c.(172-174)GAG>TAG	p.E58*		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	58	5 X 10 AA approximate repeats.|2.					intermediate filament					0						CAGCAGATCTCCTGACAGCCC	0.612		NA											12	53					0.000978159	0.00103103	1	0
GGTLC2	91227	broad.mit.edu	37	22	22988902	22988902	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:22988902C>G	uc010gtt.2	+	1	121	c.87C>G	c.(85-87)TTC>TTG	p.F29L	LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.F29L	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase-like 4 isoform 1	29					glutathione biosynthetic process		gamma-glutamyltransferase activity			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		AGCCCGAGTTCTACACGCCGG	0.607		NA											13	15					0	0	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830196	26830196	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:26830196C>T	uc003acg.2	+	2	1012	c.615C>T	c.(613-615)CTC>CTT	p.L205L		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	205	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			ovary(1)	1						TTGAGACCCTCTACAAAGCTT	0.532		NA											22	28					0	0	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073401	40073401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:40073401G>T	uc003ayc.2	+	30	4910	c.4910G>T	c.(4909-4911)GGG>GTG	p.G1637V	CACNA1I_uc003ayd.2_Missense_Mutation_p.G1602V|CACNA1I_uc003aye.2_Missense_Mutation_p.G1552V|CACNA1I_uc003ayf.2_Missense_Mutation_p.G1517V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1637	Helical; Name=S5 of repeat IV; (Potential).|IV.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCTCTCGGGGTGGAGCTC	0.682		NA											3	6					0.000602214	0.00063875	1	0
NUP210	23225	broad.mit.edu	37	3	13370375	13370375	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:13370375C>T	uc003bxv.1	-	31	4265	c.4182G>A	c.(4180-4182)GTG>GTA	p.V1394V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1394	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					AAGGCACGGCCACCAGGGCCT	0.537		NA											26	19					0	0	0	0
PTPRG	5793	broad.mit.edu	37	3	62254758	62254758	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:62254758A>G	uc003dlb.2	+	20	3642	c.2923A>G	c.(2923-2925)AAC>GAC	p.N975D	PTPRG_uc003dlc.2_Missense_Mutation_p.N946D|PTPRG_uc011bfi.1_Missense_Mutation_p.N221D|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	975	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGAATATGGAAACATTATTGT	0.363		NA											28	20					0	0	0	0
EPHA3	2042	broad.mit.edu	37	3	89390133	89390133	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:89390133T>G	uc003dqy.2	+	4	1107	c.882T>G	c.(880-882)AGT>AGG	p.S294R	EPHA3_uc003dqx.1_Missense_Mutation_p.S294R|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	294	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCCTCACAGTTCTACTCAGG	0.443		NA								TSP Lung(6;0.00050)			30	84					0	0	0	0
PLA1A	51365	broad.mit.edu	37	3	119343977	119343977	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:119343977A>T	uc003ecu.2	+	9	1058	c.1019A>T	c.(1018-1020)CAC>CTC	p.H340L	PLA1A_uc003ecv.2_Missense_Mutation_p.H324L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.H167L	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	340					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CTAGTGCATCACAGCCTCGTG	0.318		NA											19	34					0	0	0	0
MYLK	4638	broad.mit.edu	37	3	123512632	123512632	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:123512632C>T	uc003ego.2	-	4	339	c.57G>A	c.(55-57)GTG>GTA	p.V19V	MYLK_uc011bjw.1_Silent_p.V19V|MYLK_uc003egp.2_Silent_p.V19V|MYLK_uc003egq.2_Silent_p.V19V|MYLK_uc003egr.2_Silent_p.V19V|MYLK_uc003egs.2_5'UTR|MYLK_uc010hrs.1_Silent_p.V19V|MYLK_uc003egu.1_Silent_p.V29V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	19					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGAGGGATCCACACTGAGGG	0.532		NA											11	36					0	0	0	0
GMPS	8833	broad.mit.edu	37	3	155633846	155633847	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:155633846_155633847AG>TA	uc003faq.2	+	9	1412_1413	c.1077_1078AG>TA	c.(1075-1080)CCAGAG>CCTAAG	p.E360K	GMPS_uc011bom.1_Missense_Mutation_p.E261K	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	360					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTTGAAACCAGAGGAGGTTTT	0.376		NA	T	MLL	AML								9	33					0	0	0	0
ABCC5	10057	broad.mit.edu	37	3	183655818	183655818	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:183655818C>T	uc003fmg.2	-	26	3890	c.3725G>A	c.(3724-3726)CGT>CAT	p.R1242H	ABCC5_uc011bqt.1_Missense_Mutation_p.R770H|ABCC5_uc010hxl.2_Missense_Mutation_p.R1199H	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1242	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCCACCAGACGGAAGAGGGC	0.502		NA											6	92					0	0	0	0
PCYT1A	5130	broad.mit.edu	37	3	195966589	195966589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:195966589C>A	uc003fwg.2	-	9	899	c.726G>T	c.(724-726)TTG>TTT	p.L242F	uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Missense_Mutation_p.L242F	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	242	Amphipathic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CCCTCTCCTGCAAGTGGTATT	0.368		NA											22	82					4.16e-05	4.52e-05	1	0
STK32B	55351	broad.mit.edu	37	4	5448436	5448436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:5448436C>T	uc003gih.1	+	7	663	c.599C>T	c.(598-600)CCC>CTC	p.P200L	STK32B_uc010ida.1_Missense_Mutation_p.P153L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	200	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GACAGAGGCCCCGGATACTCG	0.572		NA											24	27					0	0	0	0
GBA3	57733	broad.mit.edu	37	4	22749519	22749519	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:22749519T>C	uc003gqp.3	+	3	978	c.887T>C	c.(886-888)ATG>ACG	p.M296T	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.M297T	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	296					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						GAGAAGAAAATGATCAAAGGC	0.403		NA											8	6					0	0	0	0
ARAP2	116984	broad.mit.edu	37	4	36122929	36122929	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:36122929T>C	uc003gsq.1	-	23	4104	c.3766A>G	c.(3766-3768)ATC>GTC	p.I1256V		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1256	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATGTGATTGATTTCTGAGCAT	0.343		NA											45	48					0	0	0	0
LPHN3	23284	broad.mit.edu	37	4	62679537	62679537	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:62679537T>A	uc010ihh.2	+	6	1379	c.1206T>A	c.(1204-1206)CAT>CAA	p.H402Q	LPHN3_uc003hcq.3_Missense_Mutation_p.H402Q|LPHN3_uc003hcs.1_Missense_Mutation_p.H231Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	402	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						ggcaggcacatcatggacaag	0.114		NA											6	53					0	0	0	0
PDHA2	5161	broad.mit.edu	37	4	96762054	96762054	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:96762054G>A	uc003htr.3	+	1	816	c.753G>A	c.(751-753)AAG>AAA	p.K251K		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	251					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGGGCTAAAGGTCGATGGAA	0.463		NA											13	63					0	0	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643246	156643246	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:156643246G>A	uc003iov.2	+	10	2309	c.1773G>A	c.(1771-1773)ATG>ATA	p.M591I	GUCY1A3_uc010iqc.2_Missense_Mutation_p.M591I|GUCY1A3_uc003iow.2_Missense_Mutation_p.M591I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.M590I|GUCY1A3_uc003iox.2_Missense_Mutation_p.M591I|GUCY1A3_uc003ioz.2_Missense_Mutation_p.M356I|GUCY1A3_uc003ioy.2_Missense_Mutation_p.M591I|GUCY1A3_uc010iqe.2_Missense_Mutation_p.M356I|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.M591I	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	591	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAGTTAAAATGCCCCGTTACT	0.423		NA											115	129					0	0	0	0
ADCY2	108	broad.mit.edu	37	5	7717334	7717334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:7717334G>A	uc003jdz.1	+	12	1754	c.1687G>A	c.(1687-1689)GGG>AGG	p.G563R	ADCY2_uc011cmo.1_Missense_Mutation_p.G383R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	563	Cytoplasmic (Potential).				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						AGCAATTGATGGGATTAATGC	0.308		NA											22	62					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11023090	11023090	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:11023090G>T	uc003jfa.1	-	17	2935	c.2790C>A	c.(2788-2790)GGC>GGA	p.G930G	CTNND2_uc010itt.2_Silent_p.G839G|CTNND2_uc011cmy.1_Silent_p.G593G|CTNND2_uc011cmz.1_Silent_p.G497G|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.G522G	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	930					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TGGCGTATTTGCCTGGAAAAG	0.507		NA											12	35					0.00185496	0.0019391	1	0
FAM105A	54491	broad.mit.edu	37	5	14608915	14608915	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:14608915T>G	uc003jfj.2	+	7	799	c.686T>G	c.(685-687)CTT>CGT	p.L229R		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491	229										ovary(1)	1	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328		NA											16	38					0	0	0	0
CDH6	1004	broad.mit.edu	37	5	31316322	31316322	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:31316322A>G	uc003jhe.1	+	9	1724	c.1398A>G	c.(1396-1398)CCA>CCG	p.P466P	CDH6_uc003jhd.1_Silent_p.P466P	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	466	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						CAGATAATCCAAAGCAAAGTA	0.368		NA											12	44					0	0	0	0
SLC45A2	51151	broad.mit.edu	37	5	33982466	33982466	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:33982466A>C	uc003jid.2	-	2	529	c.437T>G	c.(436-438)ATG>AGG	p.M146R	SLC45A2_uc003jie.2_Missense_Mutation_p.M146R|SLC45A2_uc003jif.3_Missense_Mutation_p.M146R|SLC45A2_uc011coe.1_Missense_Mutation_p.M146R	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	146	Helical; Name=4; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GACACCTATCATGGTGACACT	0.433		NA											19	50					0	0	0	0
LIFR	3977	broad.mit.edu	37	5	38489306	38489306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:38489306C>T	uc010ive.1	-	16	2541	c.2209G>A	c.(2209-2211)GCA>ACA	p.A737T	LIFR_uc003jli.2_Missense_Mutation_p.A737T	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	737	Fibronectin type-III 6.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					ATCGAATCTGCAGAAGTATCC	0.358		NA	T	PLAG1	salivary adenoma								9	48					0	0	0	0
HTR1A	3350	broad.mit.edu	37	5	63256467	63256467	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:63256467G>A	uc011cqt.1	-	1	1080	c.1080C>T	c.(1078-1080)CCC>CCT	p.P360P		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	360	Helical; Name=6; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGATGAAGAAGGGCAGCCAGC	0.597		NA											35	132					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82817564	82817564	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:82817564A>G	uc003kii.3	+	7	3795	c.3439A>G	c.(3439-3441)ACA>GCA	p.T1147A	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T1147A|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1147	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGGTAGTAGTACAACAGGATT	0.388		NA											38	55					0	0	0	0
TTC37	9652	broad.mit.edu	37	5	94852669	94852669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:94852669G>A	uc003klb.2	-	22	2657	c.2387C>T	c.(2386-2388)ACA>ATA	p.T796I		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	796	TPR 13.						binding			ovary(3)|pancreas(1)	4						GTTGCTGCCTGTTTCTGCTAG	0.333		NA											7	21					0	0	0	0
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:95746664G>A	uc003kls.1	-	8	1115	c.909C>T	c.(907-909)TTC>TTT	p.F303F	PCSK1_uc010jbi.1_Intron	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCCAGACGAAGATGGACC	0.498		NA											14	145					0	0	0	0
FBN2	2201	broad.mit.edu	37	5	127638678	127638678	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:127638678A>C	uc003kuu.2	-	46	6343	c.5904T>G	c.(5902-5904)AAT>AAG	p.N1968K		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1968	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCAATCATTATTATGAGTGA	0.373		NA											41	91					0	0	0	0
PCDHA13	56136	broad.mit.edu	37	5	140261865	140261865	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140261865C>T	uc003lif.2	+	1	12	c.12C>T	c.(10-12)TCC>TCT	p.S4S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S4S|PCDHA13_uc003lid.2_Silent_p.S4S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	4					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTCTTCCTGGCAAGGAG	0.542		NA											49	151					0	0	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262129	140262129	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140262129C>T	uc003lif.2	+	1	276	c.276C>T	c.(274-276)CGC>CGT	p.R92R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.R92R|PCDHA13_uc003lid.2_Silent_p.R92R	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	92	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587		NA											17	284					0	0	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480873	140480873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140480873G>A	uc003lio.2	+	1	640	c.640G>A	c.(640-642)GCG>ACG	p.A214T	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	214	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGCTCACCGCGCTGGACGG	0.562		NA											18	51					0	0	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605137	140605137	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140605137C>T	uc003ljb.2	+	1	2060	c.2060C>T	c.(2059-2061)ACC>ATC	p.T687I	PCDHB14_uc011dal.1_Missense_Mutation_p.T534I	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	687	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTCCCTCACCGTCTACCTG	0.711		NA											75	115					0	0	0	0
CDX1	1044	broad.mit.edu	37	5	149562461	149562461	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:149562461G>A	uc003lrq.2	+	2	672	c.576G>A	c.(574-576)GGG>GGA	p.G192G		NM_001804	NP_001795	P47902	CDX1_HUMAN	caudal type homeobox 1	192	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATCTGGGGCTCACTGAAC	0.562		NA											40	81					0	0	0	0
GRIA1	2890	broad.mit.edu	37	5	153175081	153175081	+	Silent	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:153175081C>G	uc003lva.3	+	14	2681	c.2316C>G	c.(2314-2316)GTC>GTG	p.V772V	GRIA1_uc003luy.3_Intron|GRIA1_uc003luz.3_Silent_p.V677V|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Intron|GRIA1_uc011dcy.1_Silent_p.V782V|GRIA1_uc011dcz.1_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	772	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCAAGGCGTCTTAGACAAGC	0.448		NA											15	29					0	0	0	0
CYFIP2	26999	broad.mit.edu	37	5	156721850	156721850	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:156721850G>C	uc003lwq.2	+	4	404	c.266G>C	c.(265-267)TGT>TCT	p.C89S	CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.C89S|CYFIP2_uc003lws.2_Missense_Mutation_p.C89S|CYFIP2_uc003lwt.2_5'Flank|CYFIP2_uc011ddp.1_5'Flank|CYFIP2_uc003lwp.2_5'UTR	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	89					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGCAGCTGTTCCCGGGCC	0.537		NA											11	18					0	0	0	0
CYFIP2	26999	broad.mit.edu	37	5	156738742	156738742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:156738742G>T	uc003lwq.2	+	13	1201	c.1063G>T	c.(1063-1065)GAC>TAC	p.D355Y	CYFIP2_uc011ddn.1_Missense_Mutation_p.D329Y|CYFIP2_uc011ddo.1_Missense_Mutation_p.D159Y|CYFIP2_uc003lwr.2_Missense_Mutation_p.D355Y|CYFIP2_uc003lws.2_Missense_Mutation_p.D355Y|CYFIP2_uc003lwt.2_Missense_Mutation_p.D233Y|CYFIP2_uc011ddp.1_Missense_Mutation_p.D89Y	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	355					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCCGGGATGACCACATCCG	0.612		NA											5	10					5.94e-07	6.72e-07	1	0
SLIT3	6586	broad.mit.edu	37	5	168123340	168123340	+	Silent	SNP	G	G	A	rs79266600	by1000genomes	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:168123340G>A	uc003mab.2	-	28	3459	c.3039C>T	c.(3037-3039)GAC>GAT	p.D1013D	SLIT3_uc010jjg.2_Silent_p.D1020D	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1013	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGATCCCGTCCACGCAGG	0.532		NA											24	78					0	0	0	0
DOCK2	1794	broad.mit.edu	37	5	169461497	169461497	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:169461497T>A	uc003maf.2	+	35	3642	c.3562T>A	c.(3562-3564)TAC>AAC	p.Y1188N	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y680N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1188	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCTGGATTACCGGGGTGT	0.587		NA											7	59					0	0	0	0
FAF2	23197	broad.mit.edu	37	5	175913486	175913486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:175913486C>T	uc003mej.3	+	3	316	c.263C>T	c.(262-264)CCA>CTA	p.P88L		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	88					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						AGACCTCAACCAAGGGCAAGT	0.433		NA											16	62					0	0	0	0
SCGN	10590	broad.mit.edu	37	6	25689756	25689756	+	Missense_Mutation	SNP	A	A	T	rs143515197		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:25689756A>T	uc003nfb.2	+	9	832	c.629A>T	c.(628-630)GAT>GTT	p.D210V	SCGN_uc010jpz.2_Missense_Mutation_p.D101V	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	210	EF-hand 5.|5 (Potential).					extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						GCCTACTATGATGTTGTAAGT	0.398		NA											38	88					0	0	0	0
PI16	221476	broad.mit.edu	37	6	36930839	36930839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:36930839C>T	uc003ona.2	+	5	1049	c.721C>T	c.(721-723)CCG>TCG	p.P241S	PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.P12S	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	241	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						AACGGGGATTCCGGCTTTCTT	0.562		NA											42	90					0	0	0	0
PGK2	5232	broad.mit.edu	37	6	49753700	49753700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:49753700C>A	uc003ozu.2	-	1	1308	c.1201G>T	c.(1201-1203)GAG>TAG	p.E401*		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	401					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					TCCAGAAGCTCTAGACTGGCA	0.473		NA											33	86					1.07e-11	1.28e-11	1	0
LRRC1	55227	broad.mit.edu	37	6	53787549	53787549	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:53787549C>T	uc003pcd.1	+	14	1810	c.1533C>T	c.(1531-1533)AAC>AAT	p.N511N		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	511	Potential.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAAACAAAAACGAGGTCAATC	0.473		NA											41	233					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83820000	83820000	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:83820000A>T	uc003pjs.1	+	6	908	c.648A>T	c.(646-648)CAA>CAT	p.Q216H	DOPEY1_uc011dyy.1_Missense_Mutation_p.Q216H|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q216H	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	216					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGGAAGATCAACTTTATATAA	0.328		NA											80	152					0	0	0	0
GJA10	84694	broad.mit.edu	37	6	90604421	90604421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:90604421G>A	uc011eaa.1	+	1	234	c.234G>A	c.(232-234)TGG>TGA	p.W78*		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	78	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCAGGTTCTGGGTTTTACAGA	0.453		NA											15	54					0	0	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587184	111587184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:111587184C>A	uc003puv.3	+	4	841	c.419C>A	c.(418-420)GCT>GAT	p.A140D		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	140	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CCACTGCTAGCTAAACTGGCT	0.507		NA											5	47					1.24e-05	1.35e-05	1	0
REV3L	5980	broad.mit.edu	37	6	111695451	111695451	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:111695451T>C	uc003puy.3	-	13	4430	c.4107A>G	c.(4105-4107)GCA>GCG	p.A1369A	REV3L_uc003pux.3_Silent_p.A1291A|REV3L_uc003puz.3_Silent_p.A1291A	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1369					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGTATTCTGTGCTACCTGAG	0.303		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					38	68					0	0	0	0
NMBR	4829	broad.mit.edu	37	6	142399733	142399733	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:142399733G>T	uc003qiu.2	-	2	871	c.730C>A	c.(730-732)CAC>AAC	p.H244N		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	244	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGAAGATTGTGTGCGCTTTTA	0.358		NA											17	39					3.53e-06	3.91e-06	1	0
UTRN	7402	broad.mit.edu	37	6	144844227	144844227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:144844227G>T	uc003qkt.2	+	40	5901	c.5809G>T	c.(5809-5811)GAA>TAA	p.E1937*		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1937	Spectrin 13.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCATCCTTGAAGCCTCTGG	0.383		NA											19	56					2.58e-16	3.17e-16	1	0
SYNE1	23345	broad.mit.edu	37	6	152786398	152786398	+	Nonsense_Mutation	SNP	T	T	A	rs34859110		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:152786398T>A	uc010kiw.2	-	18	2529	c.1927A>T	c.(1927-1929)AAA>TAA	p.K643*	SYNE1_uc003qot.3_Nonsense_Mutation_p.K650*|SYNE1_uc003qou.3_Nonsense_Mutation_p.K643*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K626*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.K643*|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Nonsense_Mutation_p.K159*|SYNE1_uc003qoz.2_Nonsense_Mutation_p.K75*|SYNE1_uc003qoy.2_Nonsense_Mutation_p.K210*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	643	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTTTTTGGCATTTTCT	0.403		NA								HNSCC(10;0.0054)			34	84					0	0	0	0
DAGLB	221955	broad.mit.edu	37	7	6452471	6452471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:6452471G>A	uc003sqa.2	-	13	1710	c.1540C>T	c.(1540-1542)CGA>TGA	p.R514*	DAGLB_uc003spy.2_Nonsense_Mutation_p.R60*|DAGLB_uc003spz.2_Nonsense_Mutation_p.R211*|DAGLB_uc011jwt.1_Nonsense_Mutation_p.R328*|DAGLB_uc011jwu.1_Nonsense_Mutation_p.R385*|DAGLB_uc003sqb.2_Nonsense_Mutation_p.R233*|DAGLB_uc003sqc.2_Nonsense_Mutation_p.R233*|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Nonsense_Mutation_p.R473*	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	514	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GCGACCACTCGCAAGATTCTT	0.592		NA											3	14					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11676534	11676534	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:11676534C>A	uc003ssf.3	-	2	497	c.245G>T	c.(244-246)AGG>ATG	p.R82M		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	82	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACACAGCCCTCGTTTGGAT	0.463		NA								HNSCC(18;0.044)			30	81					2.29e-06	2.54e-06	1	0
TMEM195	392636	broad.mit.edu	37	7	15470671	15470671	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:15470671T>A	uc003stb.1	-	4	642	c.472A>T	c.(472-474)ACA>TCA	p.T158S		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	158					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						CTCAGTGCTGTGGATAAGTTA	0.358		NA											38	84					0	0	0	0
MPP6	51678	broad.mit.edu	37	7	24708126	24708126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:24708126C>A	uc003swx.2	+	10	1260	c.961C>A	c.(961-963)CGT>AGT	p.R321S	MPP6_uc003swy.2_Missense_Mutation_p.R321S|MPP6_uc010kur.2_5'UTR	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	321					protein complex assembly		protein binding				0						AGAATTTGATCGTCATGAAAT	0.368		NA											13	23					9.31e-06	1.02e-05	1	0
COBL	23242	broad.mit.edu	37	7	51287530	51287530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:51287530C>G	uc003tpr.3	-	2	338	c.153G>C	c.(151-153)TTG>TTC	p.L51F	COBL_uc003tps.2_Missense_Mutation_p.L51F|COBL_uc011kcl.1_Missense_Mutation_p.L51F|COBL_uc010kzc.2_Missense_Mutation_p.L51F|COBL_uc003tpt.2_Missense_Mutation_p.L51F	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	51										skin(3)|ovary(2)	5	Glioma(55;0.08)					TCATGCGAACCAAGTTCTGCT	0.642		NA											5	72					0	0	0	0
ZNF735	730291	broad.mit.edu	37	7	63679733	63679733	+	Missense_Mutation	SNP	A	A	G	rs10270226	by1000genomes	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:63679733A>G	uc011kdn.1	+	4	304	c.304A>G	c.(304-306)AGC>GGC	p.S102G		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCAGAGCAGAGCATAAAAGA	0.323		NA											5	84					0	0	0	0
ABCB1	5243	broad.mit.edu	37	7	87135328	87135328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:87135328G>A	uc003uiz.1	-	28	3939	c.3521C>T	c.(3520-3522)ACT>ATT	p.T1174I	ABCB1_uc011khc.1_Missense_Mutation_p.T1110I	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	1174	Cytoplasmic (Potential).|ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAGAGCTGAGTTCCTTTGTC	0.403		NA											32	55					0	0	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95439771	95439771	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:95439771C>G	uc003uoc.3	+	3	453	c.176C>G	c.(175-177)ACA>AGA	p.T59R	DYNC1I1_uc003uod.3_Missense_Mutation_p.T59R|DYNC1I1_uc003uob.2_Missense_Mutation_p.T59R|DYNC1I1_uc003uoe.3_Missense_Mutation_p.T59R|DYNC1I1_uc010lfl.2_Missense_Mutation_p.T65R	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	59	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGACGAGAGACAGAGGCTTTG	0.453		NA											5	35					0	0	0	0
CFTR	1080	broad.mit.edu	37	7	117235095	117235095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:117235095G>A	uc003vjd.2	+	15	2734	c.2602G>A	c.(2602-2604)GTA>ATA	p.V868I	CFTR_uc011knq.1_Missense_Mutation_p.V274I	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	868	Helical; Name=7; (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGGTGCTTAGTAATTTTTCT	0.303		NA							Cystic_Fibrosis				17	36					0	0	0	0
CHRM2	1129	broad.mit.edu	37	7	136700564	136700564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:136700564G>A	uc003vtf.1	+	4	1575	c.952G>A	c.(952-954)GAG>AAG	p.E318K	CHRM2_uc003vtg.1_Missense_Mutation_p.E318K|CHRM2_uc003vtj.1_Missense_Mutation_p.E318K|CHRM2_uc003vtk.1_Missense_Mutation_p.E318K|CHRM2_uc003vtl.1_Missense_Mutation_p.E318K|CHRM2_uc003vtm.1_Missense_Mutation_p.E318K|CHRM2_uc003vti.1_Missense_Mutation_p.E318K|CHRM2_uc003vto.1_Missense_Mutation_p.E318K|CHRM2_uc003vtn.1_Missense_Mutation_p.E318K|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	318	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCCAAAGATGAGAACTCTAA	0.468		NA											33	74					0	0	0	0
SSPO	23145	broad.mit.edu	37	7	149493814	149493814	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:149493814G>A	uc010lpk.2	+	46	6810	c.6810G>A	c.(6808-6810)TTG>TTA	p.L2270L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2270					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGTGTGTTGCTGCCTGAGG	0.652		NA											4	10					0	0	0	0
MYOM2	9172	broad.mit.edu	37	8	2024315	2024315	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:2024315G>A	uc003wpx.3	+	11	1353	c.1215G>A	c.(1213-1215)CCG>CCA	p.P405P	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	405	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGGAAGCCGCCCAACACCA	0.622		NA											10	18					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	2820134	2820134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:2820134G>A	uc011kwk.1	-	61	9875	c.9485C>T	c.(9484-9486)CCC>CTC	p.P3162L	CSMD1_uc011kwj.1_Missense_Mutation_p.P2491L|CSMD1_uc010lrg.2_Missense_Mutation_p.P1053L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3162	Extracellular (Potential).|Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTTCTGCGGGGATGCCAGG	0.493		NA											9	28					0	0	0	0
NECAB1	64168	broad.mit.edu	37	8	91929769	91929769	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:91929769T>A	uc011lgg.1	+	6	601	c.407T>A	c.(406-408)TTG>TAG	p.L136*		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	136	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AGATTTTTATTGAAGGAAACC	0.403		NA											15	31					0	0	0	0
TSPYL5	85453	broad.mit.edu	37	8	98290055	98290055	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:98290055C>A	uc003yhy.2	-	1	122	c.18G>T	c.(16-18)CGG>CGT	p.R6R		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	6					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					ACTTTCGACCCCGACTTCGGC	0.706		NA											7	6					3.1e-07	3.53e-07	1	0
ABRA	137735	broad.mit.edu	37	8	107782189	107782189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:107782189C>A	uc003ymm.3	-	1	284	c.230G>T	c.(229-231)AGT>ATT	p.S77I		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	77					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTGGGGCACTCTGAGCTTT	0.572		NA											31	89					3.11e-16	3.81e-16	1	0
PTK2	5747	broad.mit.edu	37	8	141900746	141900746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:141900746C>A	uc003yvu.2	-	3	321	c.91G>T	c.(91-93)GGT>TGT	p.G31C	PTK2_uc003yvs.2_Missense_Mutation_p.G31C|PTK2_uc003yvt.2_Missense_Mutation_p.G53C|PTK2_uc003yvv.2_5'UTR|PTK2_uc011ljr.1_Missense_Mutation_p.G31C	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	31					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCATTGCACCAGGAGAACGT	0.443		NA											27	76					1.18e-14	1.43e-14	1	0
PLEC	5339	broad.mit.edu	37	8	144990748	144990748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:144990748C>T	uc003zaf.1	-	32	13822	c.13652G>A	c.(13651-13653)CGC>CAC	p.R4551H	PLEC_uc003zab.1_Missense_Mutation_p.R4414H|PLEC_uc003zac.1_Missense_Mutation_p.R4418H|PLEC_uc003zad.2_Missense_Mutation_p.R4414H|PLEC_uc003zae.1_Missense_Mutation_p.R4382H|PLEC_uc003zag.1_Missense_Mutation_p.R4392H|PLEC_uc003zah.2_Missense_Mutation_p.R4400H|PLEC_uc003zaj.2_Missense_Mutation_p.R4441H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4551	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CACCGTGCCGCGCTGCAGGGC	0.672		NA											7	75					0	0	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531989	75531989	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:75531989C>T	uc004ajd.2	-	9	935	c.882G>A	c.(880-882)GGG>GGA	p.G294G	ALDH1A1_uc011lsh.1_Silent_p.G215G|ALDH1A1_uc011lsg.1_Silent_p.G120G	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	294					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGTAGAATACCCCATGGTGTG	0.363		NA											60	101					0	0	0	0
GABBR2	9568	broad.mit.edu	37	9	101216493	101216493	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:101216493G>T	uc004ays.2	-	7	1162	c.1006C>A	c.(1006-1008)CAG>AAG	p.Q336K		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	336	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCATACTGCTGTGGAGTCTGG	0.493		NA											25	64					1.13e-08	1.32e-08	1	0
MUSK	4593	broad.mit.edu	37	9	113445040	113445040	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:113445040C>A	uc004bey.2	+	2	264	c.166C>A	c.(166-168)CAG>AAG	p.Q56K	MUSK_uc004bex.2_Missense_Mutation_p.Q56K	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	56	Ig-like 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						ATCCTACCCCCAGCCTGAGAT	0.333		NA											11	115					0.000673444	0.00071281	1	0
MAPKAP1	79109	broad.mit.edu	37	9	128206807	128206807	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:128206807A>G	uc004bpv.2	-	11	1749	c.1416T>C	c.(1414-1416)GCT>GCC	p.A472A	MAPKAP1_uc011lzt.1_Silent_p.A275A|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.A275A|MAPKAP1_uc011lzv.1_Silent_p.A180A|MAPKAP1_uc004bpw.2_Silent_p.A280A|MAPKAP1_uc004bpx.2_Silent_p.A280A|MAPKAP1_uc004bpy.2_Silent_p.A436A|MAPKAP1_uc004bpz.2_Silent_p.A425A|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bpu.2_RNA	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	472	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						TGACGGTAGCAGCGTCCGATT	0.473		NA											53	93					0	0	0	0
FAM102A	399665	broad.mit.edu	37	9	130707135	130707135	+	Missense_Mutation	SNP	G	G	T	rs139831125		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:130707135G>T	uc004bsx.1	-	9	1039	c.960C>A	c.(958-960)GAC>GAA	p.D320E	FAM102A_uc004bsw.1_Missense_Mutation_p.D178E|FAM102A_uc004bsy.1_Missense_Mutation_p.D48E	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	320										ovary(1)	1						TCCGCGTGTCGTCCACCCAGG	0.617		NA											10	34					7.48e-07	8.41e-07	1	0
BARHL1	56751	broad.mit.edu	37	9	135462840	135462840	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:135462840C>T	uc004cbp.1	+	2	783	c.591C>T	c.(589-591)TTC>TTT	p.F197F		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	197	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGCGCAGCTTCGAGCGGCAGA	0.657		NA											10	20					0	0	0	0
SURF4	6836	broad.mit.edu	37	9	136234283	136234283	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:136234283C>T	uc004cdj.2	-	2	217	c.87G>A	c.(85-87)GCG>GCA	p.A29A	SURF4_uc011mda.1_Silent_p.A20A|SURF4_uc010nal.2_Silent_p.A61A|SURF4_uc011mdb.1_5'UTR|SURF4_uc011mdc.1_5'UTR|SURF4_uc011mdd.1_Silent_p.A29A	NM_033161	NP_149351	O15260	SURF4_HUMAN	surfeit 4	29						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GACAGAGGCGCGCCACGTGGG	0.642		NA											6	62					0	0	0	0
MXRA5	25878	broad.mit.edu	37	X	3238516	3238516	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:3238516G>A	uc004crg.3	-	5	5367	c.5210C>T	c.(5209-5211)ACT>ATT	p.T1737I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1737						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAAGAAAGAGTCTTGTTGGT	0.463		NA											4	10					0	0	0	0
CDKL5	6792	broad.mit.edu	37	X	18606257	18606257	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:18606257G>T	uc004cym.2	+	9	991	c.738G>T	c.(736-738)GGG>GGT	p.G246G	CDKL5_uc004cyn.2_Silent_p.G246G	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	246	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GCTTCCATGGGCTCCGGGTAA	0.403		NA											44	55					2.69e-26	3.37e-26	1	0
FAM47C	442444	broad.mit.edu	37	X	37028185	37028185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:37028185T>C	uc004ddl.1	+	1	1716	c.1702T>C	c.(1702-1704)TAC>CAC	p.Y568H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	568										ovary(3)	3						GACTCGGATGTACAGTCTCCG	0.647		NA											25	33					0	0	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419318	48419318	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:48419318G>A	uc004dka.1	+	6	2133	c.2022G>A	c.(2020-2022)GAG>GAA	p.E674E	TBC1D25_uc011mly.1_Silent_p.E616E|TBC1D25_uc004dkb.1_Silent_p.E420E|TBC1D25_uc011mlz.1_Silent_p.E420E|TBC1D25_uc011mma.1_Silent_p.E420E|TBC1D25_uc004dkc.1_Silent_p.E420E|TBC1D25_uc011mmb.1_Silent_p.E678E|TBC1D25_uc011mmc.1_Silent_p.E420E|TBC1D25_uc011mmd.1_Silent_p.E420E	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	674						intracellular	Rab GTPase activator activity			ovary(1)	1						TGCAGTCAGAGGTGTGGGACT	0.597		NA											14	8					0	0	0	0
GNL3L	54552	broad.mit.edu	37	X	54569430	54569430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:54569430G>A	uc004dth.1	+	6	488	c.349G>A	c.(349-351)GAC>AAC	p.D117N	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	117					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						TCAGCTGGATGACGAGGCCAC	0.488		NA											10	11					0	0	0	0
MCF2	4168	broad.mit.edu	37	X	138687074	138687074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:138687074C>A	uc004fau.2	-	14	1921	c.1627G>T	c.(1627-1629)GAC>TAC	p.D543Y	MCF2_uc004fav.2_Missense_Mutation_p.D559Y|MCF2_uc011mwl.1_Missense_Mutation_p.D520Y|MCF2_uc010nsh.1_Missense_Mutation_p.D543Y|MCF2_uc011mwm.1_Missense_Mutation_p.D504Y|MCF2_uc011mwn.1_Missense_Mutation_p.D688Y|MCF2_uc004faw.2_Missense_Mutation_p.D603Y|MCF2_uc011mwo.1_Missense_Mutation_p.D619Y	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	543	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAATGTCCTTTTTATTT	0.308		NA											54	58					1.27e-15	1.55e-15	1	0
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:60148570delA	uc001jkf.2	+	4	564	c.432delA	c.(430-432)ACAfs	p.T144fs	TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Frame_Shift_Del_p.T144fs	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						AAGCTATGACAAAAAAAAAAG	0.269		NA											9	98	---	---	---	---	NA	NA	NA	NA
ITFG2	55846	broad.mit.edu	37	12	2927360	2927360	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:2927360delA	uc001qlb.1	+	4	387	c.323delA	c.(322-324)GAGfs	p.E108fs	ITFG2_uc001qla.1_Frame_Shift_Del_p.E108fs|ITFG2_uc010seb.1_Intron|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	108											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGCACCACGAGACACTAATC	0.537		NA											28	37	---	---	---	---	NA	NA	NA	NA
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:41857341_41857342insA	uc001zof.1	+	6	1007	c.783_splice	c.e6+2	p.Q261_splice		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579		NA											16	13	---	---	---	---	NA	NA	NA	NA
PKD1	5310	broad.mit.edu	37	16	2143887	2143888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:2143887_2143888insG	uc002cos.1	-	36	10954_10955	c.10745_10746insC	c.(10744-10746)CCGfs	p.P3582fs	PKD1_uc002cot.1_Frame_Shift_Ins_p.P3581fs|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3582	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CACTCACGCCCGGGGGGAAGCT	0.698		NA											2	4	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7577554	7577564	+	Frame_Shift_Del	DEL	TGCAGGAACTG	TGCAGGAACTG	-	rs121912655		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7577554_7577564delTGCAGGAACTG	uc002gim.2	-	7	911_921	c.717_727delCAGTTCCTGCA	c.(715-729)AACAGTTCCTGCATGfs	p.N239fs	TP53_uc002gig.1_Frame_Shift_Del_p.N239fs|TP53_uc002gih.2_Frame_Shift_Del_p.N239fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.N107fs|TP53_uc010cng.1_Frame_Shift_Del_p.N107fs|TP53_uc002gii.1_Frame_Shift_Del_p.N107fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N239fs|TP53_uc010cni.1_Frame_Shift_Del_p.N239fs|TP53_uc002gij.2_Frame_Shift_Del_p.N239fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.N146fs|TP53_uc002gio.2_Frame_Shift_Del_p.N107fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	239_243	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(73)|p.C242F(63)|p.C242Y(37)|p.N239D(31)|p.C242S(25)|p.S241C(24)|p.N239S(19)|p.C242fs*5(16)|p.S240G(14)|p.N239fs*25(12)|p.C242R(11)|p.M243L(10)|p.S240R(8)|p.S241fs*6(8)|p.C242W(7)|p.0?(7)|p.S241Y(7)|p.N239Y(6)|p.N239K(6)|p.S240I(6)|p.S241A(6)|p.S241del(5)|p.S241T(5)|p.N239T(4)|p.N239_C242delNSSC(3)|p.M243V(3)|p.C242*(3)|p.S241S(3)|p.S240C(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.C242C(2)|p.C242G(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M243fs*4(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.N239N(1)|p.M243fs*18(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239fs*0(1)|p.S240fs*23(1)|p.C238_N239insX(1)|p.N239_C242del(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)		ATGCCGCCCATGCAGGAACTGTTACACATGT	0.583		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)			10	78	---	---	---	---	NA	NA	NA	NA
TLK1	9874	broad.mit.edu	37	2	171853218	171853224	+	Frame_Shift_Del	DEL	AATATTG	AATATTG	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:171853218_171853224delAATATTG	uc002ugn.2	-	20	2535_2541	c.2063_2069delCAATATT	c.(2062-2070)ACAATATTAfs	p.T688fs	TLK1_uc002ugo.2_Frame_Shift_Del_p.T709fs|TLK1_uc002ugp.2_Frame_Shift_Del_p.T640fs|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Frame_Shift_Del_p.T592fs	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	688_690	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TGTGGCTTTTAATATTGTATTTTCTTG	0.3		NA											21	66	---	---	---	---	NA	NA	NA	NA
TTN	7273	broad.mit.edu	37	2	179457503	179457503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:179457503delA	uc010zfg.1	-	249	51863	c.51639delT	c.(51637-51639)CTTfs	p.L17213fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.L10908fs|TTN_uc010zfi.1_Frame_Shift_Del_p.L10841fs|TTN_uc010zfj.1_Frame_Shift_Del_p.L10716fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18140							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)			TTTACTCACCAAGCCTGTCTT	0.413		NA											47	78	---	---	---	---	NA	NA	NA	NA
SIGLEC1	6614	broad.mit.edu	37	20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:3684491delG	uc002wja.2	-	4	954	c.954delC	c.(952-954)CCCfs	p.P318fs	SIGLEC1_uc002wiz.3_Frame_Shift_Del_p.P318fs|SIGLEC1_uc002wjc.2_Frame_Shift_Del_p.P229fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	318	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GGAGGCTGATGGGGGGTGAGA	0.617		NA											9	32	---	---	---	---	NA	NA	NA	NA
ASXL1	171023	broad.mit.edu	37	20	31021634	31021634	+	Frame_Shift_Del	DEL	C	C	-	rs137920574	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:31021634delC	uc002wxs.2	+	11	2059	c.1633delC	c.(1633-1635)CGTfs	p.R545fs	ASXL1_uc010geb.2_Frame_Shift_Del_p.R436fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GCTTGAAGATCGTCAGTCCTT	0.517		NA	F|N|Mis		MDS|CMML								51	113	---	---	---	---	NA	NA	NA	NA
RAPGEF6	51735	broad.mit.edu	37	5	130883877	130883878	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:130883877_130883878insC	uc003kvn.1	-	6	563_564	c.357_358insG	c.(355-360)GAGAATfs	p.E119fs	RAPGEF6_uc003kvp.1_Frame_Shift_Ins_p.E169fs|RAPGEF6_uc003kvo.1_Frame_Shift_Ins_p.E119fs|RAPGEF6_uc010jdi.1_Frame_Shift_Ins_p.E119fs|RAPGEF6_uc010jdj.1_Frame_Shift_Ins_p.E119fs|RAPGEF6_uc003kvr.2_Frame_Shift_Ins_p.E119fs|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Frame_Shift_Ins_p.E119fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	119_120					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTTTGGCATTCTCTACCTGAA	0.342		NA											13	55	---	---	---	---	NA	NA	NA	NA
ZNF623	9831	broad.mit.edu	37	8	144732254	144732254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:144732254delC	uc003yzd.2	+	1	301	c.212delC	c.(211-213)TCCfs	p.S71fs	ZNF623_uc011lkp.1_Frame_Shift_Del_p.S31fs|ZNF623_uc003yzc.2_Frame_Shift_Del_p.S31fs	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGGGAGTTCCCCCTCTCAG	0.572		NA											31	90	---	---	---	---	NA	NA	NA	NA
CDKN2A	1029	broad.mit.edu	37	9	21971196	21971198	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:21971196_21971198delCAT	uc003zpk.2	-	2	372_374	c.160_162delATG	c.(160-162)ATGdel	p.M54del	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_In_Frame_Del_p.D109del	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	54	ANK 2.				cell cycle arrest|cell cycle checkpoint|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|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(14)|p.M53_R58del(3)|p.M54fs*92(2)|p.M54fs*61(2)|p.M54fs*66(2)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGCGCTGCCCATCATCATGACC	0.68		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	5	---	---	---	---	NA	NA	NA	NA
FAM47C	442444	broad.mit.edu	37	X	37028110	37028111	+	Frame_Shift_Ins	INS	-	-	TA	rs143115052	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:37028110_37028111insTA	uc004ddl.1	+	1	1641_1642	c.1627_1628insTA	c.(1627-1629)GTAfs	p.V543fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	543										ovary(3)	3						TGAGAGTAGCGTATCTCATCTC	0.619		NA											8	69	---	---	---	---	NA	NA	NA	NA