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
PRDM16	63976	broad.mit.edu	37	1	3319474	3319474	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:3319474G>A	uc001akf.2	+	6	876	c.796G>A	c.(796-798)GAG>AAG	p.E266K	PRDM16_uc001akc.2_Missense_Mutation_p.E266K|PRDM16_uc001akd.2_Missense_Mutation_p.E266K|PRDM16_uc001ake.2_Missense_Mutation_p.E266K|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	266					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCCTGGCTGAGGAGCTCAA	0.637		NA	T	EVI1	MDS|AML								17	60					0	0	0	0
PER3	8863	broad.mit.edu	37	1	7848168	7848168	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:7848168G>T	uc001aoo.2	+	4	629	c.454G>T	c.(454-456)GCT>TCT	p.A152S	PER3_uc009vmg.1_Missense_Mutation_p.A152S|PER3_uc009vmh.1_Missense_Mutation_p.A152S|PER3_uc001aop.2_Missense_Mutation_p.A152S|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Missense_Mutation_p.A152S	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	152	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACAGGCTGCTTTGATCCT	0.413		NA											24	107					2.49e-11	7.78e-11	1	0
TESK2	10420	broad.mit.edu	37	1	45923296	45923296	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:45923296C>T	uc001cns.1	-	2	565	c.162G>A	c.(160-162)ACG>ACA	p.T54T	TESK2_uc009vxr.1_Silent_p.T54T|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Silent_p.T54T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	54					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					CATCCAAACGCGTCAGTCTGG	0.453		NA											14	59					0	0	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703916	52703916	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:52703916A>T	uc001cto.2	+	4	999	c.827A>T	c.(826-828)GAT>GTT	p.D276V	ZFYVE9_uc001ctn.2_Missense_Mutation_p.D276V|ZFYVE9_uc001ctp.2_Missense_Mutation_p.D276V	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	276					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						CAGGGAACAGATGGATGTCCT	0.443		NA											40	194					0	0	0	0
DOCK7	85440	broad.mit.edu	37	1	63005304	63005304	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:63005304T>C	uc001daq.2	-	27	3246	c.3212A>G	c.(3211-3213)AAT>AGT	p.N1071S	DOCK7_uc001dan.2_Missense_Mutation_p.N932S|DOCK7_uc001dao.2_Missense_Mutation_p.N932S|DOCK7_uc001dap.2_Missense_Mutation_p.N1040S|DOCK7_uc001dam.2_Missense_Mutation_p.N251S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1071					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AAGGCTTGTATTGAGTCTCTC	0.343		NA											17	77					0	0	0	0
RABGGTB	5876	broad.mit.edu	37	1	76257189	76257189	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:76257189T>C	uc001dgy.1	+	6	583	c.512T>C	c.(511-513)GTT>GCT	p.V171A	RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Missense_Mutation_p.V125A|RABGGTB_uc001dhc.1_5'Flank	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	171	PFTB 4.				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1						ATCGAATTTGTTTTATCCTGT	0.383		NA											19	70					0	0	0	0
NEXN	91624	broad.mit.edu	37	1	78395180	78395180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:78395180G>C	uc001dic.3	+	9	1341	c.1044G>C	c.(1042-1044)AGG>AGC	p.R348S	NEXN_uc001dia.3_Missense_Mutation_p.R334S|NEXN_uc009wcb.1_Missense_Mutation_p.R270S|NEXN_uc001dib.3_Missense_Mutation_p.R284S|NEXN_uc001did.1_Missense_Mutation_p.R258S|NEXN_uc001dif.1_Missense_Mutation_p.R240S	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	348	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		CTGAAGCAAGGAGAAATATGG	0.199		NA											14	63					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103488537	103488537	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:103488537C>G	uc001dul.2	-	8	1324	c.1006G>C	c.(1006-1008)GAA>CAA	p.E336Q	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E348Q|COL11A1_uc001dun.2_Missense_Mutation_p.E297Q|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	336	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTAAATATTTCTTCAACTGGA	0.318		NA											11	42					0	0	0	0
RBM15	64783	broad.mit.edu	37	1	110882111	110882111	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:110882111G>A	uc001dzl.1	+	1	167	c.84G>A	c.(82-84)GGG>GGA	p.G28G	RBM15_uc001dzm.1_Silent_p.G28G|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	28					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGAGCGCGGGGCGGCGGGTTA	0.662		NA	T	MKL1	acute megakaryocytic leukemia								6	22					0	0	0	0
SETDB1	9869	broad.mit.edu	37	1	150923394	150923394	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:150923394G>A	uc001evu.2	+	13	2231	c.2041G>A	c.(2041-2043)GAC>AAC	p.D681N	SETDB1_uc009wmf.2_Missense_Mutation_p.D682N|SETDB1_uc001evv.2_Missense_Mutation_p.D681N|SETDB1_uc009wmg.1_Missense_Mutation_p.D681N	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATATTTTGGACATCACTTA	0.478		NA											14	80					0	0	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229858	154229858	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:154229858C>T	uc001fep.3	+	20	2557	c.2390C>T	c.(2389-2391)CCG>CTG	p.P797L	UBAP2L_uc009wot.2_Missense_Mutation_p.P797L|UBAP2L_uc010pek.1_Missense_Mutation_p.P789L|UBAP2L_uc010pel.1_Missense_Mutation_p.P807L|UBAP2L_uc010pen.1_Missense_Mutation_p.P711L|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'UTR	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	797					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGTCCCGCCGTTGTTGCCT	0.473		NA											14	77					0	0	0	0
FCRL1	115350	broad.mit.edu	37	1	157773648	157773648	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:157773648C>T	uc001frg.2	-	3	419	c.306G>A	c.(304-306)CAG>CAA	p.Q102Q	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Silent_p.Q102Q|FCRL1_uc001fri.2_Silent_p.Q102Q|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	102	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCACATTTATCTGGGATCTCC	0.527		NA											16	76					0	0	0	0
ABL2	27	broad.mit.edu	37	1	179077340	179077340	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:179077340C>T	uc001gmj.3	-	12	3349	c.3062G>A	c.(3061-3063)GGA>GAA	p.G1021E	ABL2_uc010pnf.1_Missense_Mutation_p.G918E|ABL2_uc010png.1_Missense_Mutation_p.G897E|ABL2_uc010pnh.1_Missense_Mutation_p.G1000E|ABL2_uc001gmg.3_Missense_Mutation_p.G903E|ABL2_uc001gmi.3_Missense_Mutation_p.G1006E|ABL2_uc001gmh.3_Missense_Mutation_p.G985E|ABL2_uc010pne.1_Missense_Mutation_p.G882E	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	1021	Pro-rich.|F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTCTTTCCTCCTTCCTGTGT	0.567		NA	T	ETV6	AML								14	120					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	185902690	185902690	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:185902690C>T	uc001grq.1	+	11	1791	c.1562C>T	c.(1561-1563)CCG>CTG	p.P521L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	521	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAGCCCCCTCCGGTCATCCAA	0.413		NA											13	29					0	0	0	0
TMEM183A	92703	broad.mit.edu	37	1	202984173	202984173	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:202984173G>A	uc001gyu.1	+	4	582	c.524G>A	c.(523-525)CGA>CAA	p.R175Q	TMEM183A_uc009xai.1_Missense_Mutation_p.R175Q|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Missense_Mutation_p.R174Q|TMEM183A_uc001gyx.1_Missense_Mutation_p.R174Q	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	175						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			AGGTTGTACCGAAGGTGCGAC	0.463		NA											7	43					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216497666	216497666	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:216497666C>G	uc001hku.1	-	7	1559	c.1172G>C	c.(1171-1173)AGT>ACT	p.S391T	USH2A_uc001hkv.2_Missense_Mutation_p.S391T	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	391	Laminin N-terminal.|Extracellular (Potential).		S -> I (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTTGTGGACTAAAGAACTG	0.318		NA								HNSCC(13;0.011)			4	24					0	0	0	0
OR2T4	127074	broad.mit.edu	37	1	248525032	248525032	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:248525032C>G	uc001ieh.1	+	1	150	c.150C>G	c.(148-150)TTC>TTG	p.F50L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	50	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGACTCTTCAGACAATCCA	0.468		NA											15	125					0	0	0	0
FBXO18	84893	broad.mit.edu	37	10	5951018	5951018	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:5951018G>A	uc001iis.2	+	4	979	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	FBXO18_uc001iir.2_Missense_Mutation_p.R221Q|FBXO18_uc009xig.2_Missense_Mutation_p.R221Q|FBXO18_uc001iit.2_Missense_Mutation_p.R346Q	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	295					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						AACCTCATACGGTGAGCTTTG	0.478		NA											13	88					0	0	0	0
RBM17	84991	broad.mit.edu	37	10	6148125	6148125	+	Silent	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:6148125A>G	uc001ijb.2	+	5	655	c.429A>G	c.(427-429)GAA>GAG	p.E143E	RBM17_uc010qav.1_Silent_p.E143E	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	143					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						ACAGACATGAAGCAAGTGGGT	0.408		NA											5	18					0	0	0	0
TAF3	83860	broad.mit.edu	37	10	8007660	8007660	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:8007660G>A	uc010qbd.1	+	3	2187	c.2187G>A	c.(2185-2187)GAG>GAA	p.E729E		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	729	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						agaagagagagcgagagaaga	0.139		NA											3	21					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	16918966	16918966	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:16918966C>T	uc001ioo.2	-	57	9088	c.9036G>A	c.(9034-9036)CCG>CCA	p.P3012P	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.P368P	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3012	CUB 22.				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)	TAAGCAGAACCGGCCCAGCGA	0.483		NA											24	57					0	0	0	0
FAM13C	220965	broad.mit.edu	37	10	61012750	61012750	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:61012750T>A	uc001jkn.2	-	13	1475	c.1341A>T	c.(1339-1341)GAA>GAT	p.E447D	FAM13C_uc001jko.2_Missense_Mutation_p.E349D|FAM13C_uc010qid.1_Missense_Mutation_p.E363D|FAM13C_uc010qie.1_Missense_Mutation_p.E364D|FAM13C_uc010qif.1_Missense_Mutation_p.E469D	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	447										ovary(2)	2						CAGAGTCCTCTTCCTCCTGCT	0.463		NA											13	65					0	0	0	0
PBLD	64081	broad.mit.edu	37	10	70044029	70044029	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:70044029G>C	uc001jns.1	-	10	975	c.772C>G	c.(772-774)CGA>GGA	p.R258G	PBLD_uc001jnr.1_Missense_Mutation_p.R225G|PBLD_uc001jnt.1_Missense_Mutation_p.R258G	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	258					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						TCTCCTCCTCGGTGGGAACAC	0.423		NA											9	67					0	0	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407451	75407451	+	Silent	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:75407451T>C	uc001jut.3	-	4	2111	c.1959A>G	c.(1957-1959)CTA>CTG	p.L653L	SYNPO2L_uc001jus.3_Silent_p.L429L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	653	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					GTACCAGCGATAGCAGCTCGG	0.632		NA											31	157					0	0	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058853	81058853	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:81058853C>T	uc001kaf.2	+	16	2285	c.1713C>T	c.(1711-1713)GGC>GGT	p.G571G	ZMIZ1_uc001kag.2_Silent_p.G447G	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	571					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCGGGATGGCGTGGTGCTGG	0.647		NA											5	48					0	0	0	0
FGFBP3	143282	broad.mit.edu	37	10	93668075	93668075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:93668075C>A	uc001khq.3	-	2	834	c.652G>T	c.(652-654)GAG>TAG	p.E218*		NM_152429	NP_689642	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	218					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding				0		Colorectal(252;0.162)				ATGGGTCGCTCCTCGTTGGGG	0.667		NA											14	62					1.58e-08	4.85e-08	1	0
ZNF518A	9849	broad.mit.edu	37	10	97917279	97917279	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:97917279A>T	uc001klp.2	+	6	2057	c.1200A>T	c.(1198-1200)CAA>CAT	p.Q400H	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Missense_Mutation_p.Q400H|ZNF518A_uc001klr.2_Missense_Mutation_p.Q400H	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCACTGGGCAAGGTAATAGAG	0.403		NA											17	44					0	0	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221532	117221532	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:117221532C>A	uc001lcg.2	+	22	3790	c.3404C>A	c.(3403-3405)GCA>GAA	p.A1135E	ATRNL1_uc010qsm.1_Missense_Mutation_p.A264E|ATRNL1_uc010qsn.1_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1135	Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACTTTATAGCAAACCCAGAA	0.318		NA											5	41					0.000602214	0.00171236	1	0
OR51L1	119682	broad.mit.edu	37	11	5020608	5020608	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:5020608G>A	uc010qyu.1	+	1	396	c.396G>A	c.(394-396)CTG>CTA	p.L132L		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATCCACTGCACTACCCCA	0.493		NA											33	155					0	0	0	0
OR56A4	120793	broad.mit.edu	37	11	6024283	6024283	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:6024283G>A	uc010qzv.1	-	1	96	c.96C>T	c.(94-96)TTC>TTT	p.F32F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAGTACAGAAACATAAAA	0.433		NA											12	45					0	0	0	0
SBF2	81846	broad.mit.edu	37	11	9838470	9838470	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:9838470A>G	uc001mib.2	-	29	4033	c.3895T>C	c.(3895-3897)TTC>CTC	p.F1299L	SBF2_uc001mid.2_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1299	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGTTACTGAAGGAGGCCGAG	0.493		NA											16	47					0	0	0	0
ABCC8	6833	broad.mit.edu	37	11	17428228	17428228	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:17428228C>T	uc001mnc.2	-	26	3396	c.3270G>A	c.(3268-3270)CTG>CTA	p.L1090L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1090	ABC transmembrane type-1 2.|Helical; Name=13; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGCCACCTTCAGCCCTGTCC	0.562		NA											9	46					0	0	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397578	22397578	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:22397578A>G	uc001mqk.2	+	10	1638	c.1225A>G	c.(1225-1227)AGA>GGA	p.R409G		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	409	Vesicular (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TTCTCATACTAGAGGGGTAGC	0.383		NA											32	156					0	0	0	0
FNBP4	23360	broad.mit.edu	37	11	47753052	47753052	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:47753052C>G	uc009ylv.2	-	12	2035	c.1882G>C	c.(1882-1884)GAT>CAT	p.D628H	FNBP4_uc001ngj.2_Missense_Mutation_p.D535H|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	628	WW 2.									ovary(1)	1						TCTTCACCATCTGGAAACTCC	0.403		NA											14	78					0	0	0	0
SCYL1	57410	broad.mit.edu	37	11	65294570	65294570	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:65294570C>T	uc001oea.1	+	6	908	c.831C>T	c.(829-831)CTC>CTT	p.L277L	SCYL1_uc009yqk.2_Silent_p.L277L|SCYL1_uc001oeb.1_Silent_p.L277L|SCYL1_uc001oec.1_Silent_p.L277L|SCYL1_uc001oed.1_Silent_p.L134L	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	277	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						AAACCAACCTCTTCCTGGAGG	0.572		NA											8	74					0	0	0	0
NPAS4	266743	broad.mit.edu	37	11	66192179	66192179	+	Silent	SNP	C	C	T	rs141846354		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:66192179C>T	uc001ohx.1	+	7	1994	c.1818C>T	c.(1816-1818)CCC>CCT	p.P606P	NPAS4_uc010rpc.1_Silent_p.P396P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	606					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CCCTGGTGCCCGAAGGCCTGC	0.587		NA											57	108					0	0	0	0
CNTN5	53942	broad.mit.edu	37	11	100169983	100169983	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:100169983G>T	uc001pga.2	+	20	2814	c.2475G>T	c.(2473-2475)ATG>ATT	p.M825I	CNTN5_uc001pfz.2_Missense_Mutation_p.M825I|CNTN5_uc001pgb.2_Missense_Mutation_p.M751I|CNTN5_uc010ruk.1_Missense_Mutation_p.M96I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	825	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGGAAAAAATGGTGACATCCT	0.423		NA											7	31					8.13e-05	0.000235885	1	0
RAD52	5893	broad.mit.edu	37	12	1023104	1023104	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:1023104C>A	uc001qis.1	-	11	1265	c.1151G>T	c.(1150-1152)GGA>GTA	p.G384V	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.G307V|RAD52_uc001qiu.1_Missense_Mutation_p.G384V|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	384					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCCCAAGATCCAGATTTTGC	0.488		NA						Homologous_recombination					29	65					3.58e-08	1.09e-07	1	0
TSPAN9	10867	broad.mit.edu	37	12	3387622	3387622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:3387622G>A	uc001qlp.2	+	4	246	c.99G>A	c.(97-99)TGG>TGA	p.W33*		NM_006675	NP_006666	O75954	TSN9_HUMAN	tetraspanin 9	33	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGGGCATCTGGCTCTCCGTGT	0.577		NA											38	118					0	0	0	0
C12orf71	728858	broad.mit.edu	37	12	27235255	27235255	+	Silent	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:27235255C>G	uc001rhq.2	-	1	201	c.162G>C	c.(160-162)CTG>CTC	p.L54L		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858	54											0						GGACGGGAGGCAGAAAGTGGA	0.537		NA											3	65					0	0	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876495	53876495	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:53876495G>T	uc001sdm.1	-	12	2091	c.1993C>A	c.(1993-1995)CCA>ACA	p.P665T	MAP3K12_uc001sdn.1_Missense_Mutation_p.P698T	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	665	Poly-Pro.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						GGAGGAGGTGGTTCCCCTTTG	0.672		NA											25	94					1.55e-18	4.93e-18	1	0
OR6C65	403282	broad.mit.edu	37	12	55794454	55794454	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:55794454T>A	uc010spl.1	+	1	142	c.142T>A	c.(142-144)TTG>ATG	p.L48M		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TATGTTAACATTGTCAAATAT	0.299		NA											11	19					0	0	0	0
ASCL1	429	broad.mit.edu	37	12	103352724	103352724	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:103352724C>G	uc001tjr.3	+	1	1273	c.702C>G	c.(700-702)AAC>AAG	p.N234K		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	234					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						ACTTCACCAACTGGTTCTGAG	0.617		NA											6	34					0	0	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686177	108686177	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:108686177G>A	uc009zuw.2	-	3	754	c.563C>T	c.(562-564)TCC>TTC	p.S188F	CMKLR1_uc001tmw.2_Missense_Mutation_p.S188F|CMKLR1_uc001tmv.2_Missense_Mutation_p.S186F|CMKLR1_uc009zuv.2_Missense_Mutation_p.S188F	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	188	Extracellular (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						GTTGAAGCAGGATATTTTCCC	0.557		NA											6	41					0	0	0	0
CENPJ	55835	broad.mit.edu	37	13	25483949	25483949	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr13:25483949C>T	uc001upt.3	-	4	1097	c.844G>A	c.(844-846)GAA>AAA	p.E282K	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	282					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTACGGTTTTCTTCTTTTAAA	0.353		NA											3	14					0	0	0	0
KLHL1	57626	broad.mit.edu	37	13	70370888	70370888	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr13:70370888T>C	uc001vip.2	-	7	2415	c.1621A>G	c.(1621-1623)ACA>GCA	p.T541A	KLHL1_uc010thm.1_Missense_Mutation_p.T480A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	541	Kelch 2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCTGTGTGTTGACATTGGT	0.323		NA											5	48					0	0	0	0
SLC7A8	23428	broad.mit.edu	37	14	23608670	23608670	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23608670G>A	uc001wiz.2	-	6	1601	c.875C>T	c.(874-876)TCC>TTC	p.S292F	SLC7A8_uc001wix.2_Missense_Mutation_p.S89F|SLC7A8_uc010tnk.1_Missense_Mutation_p.S68F|SLC7A8_uc010tnl.1_Missense_Mutation_p.S187F|SLC7A8_uc001wiy.2_Intron|SLC7A8_uc010akj.2_Intron	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	292					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTCCTGGGGGGACATTGCAGT	0.517		NA											19	130					0	0	0	0
MYH7	4625	broad.mit.edu	37	14	23902836	23902836	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23902836C>T	uc001wjx.2	-	3	212	c.106G>A	c.(106-108)GAT>AAT	p.D36N		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	36	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACGAAGACATCCTTCTTGAGG	0.567		NA											18	106					0	0	0	0
AP1G2	8906	broad.mit.edu	37	14	24030798	24030798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:24030798G>A	uc001wkl.2	-	18	2117	c.1780C>T	c.(1780-1782)CAG>TAG	p.Q594*	AP1G2_uc001wkj.2_Nonsense_Mutation_p.Q213*|AP1G2_uc001wkk.3_Nonsense_Mutation_p.Q522*|AP1G2_uc001wkn.2_Nonsense_Mutation_p.Q213*|uc001wko.1_RNA|AP1G2_uc001wkp.1_RNA	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	594					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCATCAGCCTGAGGGCCATCT	0.557		NA											8	36					0	0	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561108	32561108	+	Silent	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:32561108A>G	uc001wrl.2	+	2	1472	c.1233A>G	c.(1231-1233)GAA>GAG	p.E411E	ARHGAP5_uc001wrm.2_Silent_p.E411E|ARHGAP5_uc001wrn.2_Silent_p.E411E|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	411	FF 2.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TAGAAGCTGAAAAAGTCTATC	0.368		NA											37	75					0	0	0	0
LRFN5	145581	broad.mit.edu	37	14	42356819	42356819	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:42356819G>T	uc001wvm.2	+	3	2189	c.991G>T	c.(991-993)GCA>TCA	p.A331S	LRFN5_uc010ana.2_Missense_Mutation_p.A331S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	331	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TATTTCAAATGCAACAAGATC	0.468		NA								HNSCC(30;0.082)			11	77					0.000978159	0.00276735	1	0
FOS	2353	broad.mit.edu	37	14	75746697	75746698	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:75746697_75746698CC>AG	uc001xrn.2	+	2	464_465	c.259_260CC>AG	c.(259-261)CCA>AGA	p.P87R	FOS_uc010tva.1_Missense_Mutation_p.P87R|FOS_uc010asi.2_5'UTR|FOS_uc001xro.2_5'Flank	NM_005252	NP_005243	P01100	FOS_HUMAN	v-fos FBJ murine osteosarcoma viral oncogene	87					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|ovary(1)	3		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CTCCGTGGCCCCATCGCAGACC	0.673		NA											8	64					0	0	0	0
TP53BP1	7158	broad.mit.edu	37	15	43762178	43762178	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:43762178C>T	uc001zrs.2	-	11	1400	c.1252G>A	c.(1252-1254)GAA>AAA	p.E418K	TP53BP1_uc010udp.1_Missense_Mutation_p.E418K|TP53BP1_uc001zrq.3_Missense_Mutation_p.E423K|TP53BP1_uc001zrr.3_Missense_Mutation_p.E423K|TP53BP1_uc010udq.1_Missense_Mutation_p.E423K	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	418					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGGGTTTTCTAACTCCACT	0.483		NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					19	118					0	0	0	0
HDC	3067	broad.mit.edu	37	15	50534531	50534531	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:50534531C>T	uc001zxz.2	-	12	2021	c.1915G>A	c.(1915-1917)GTC>ATC	p.V639I	HDC_uc001zxy.2_Missense_Mutation_p.V382I|HDC_uc010uff.1_Missense_Mutation_p.V606I	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	639					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AAGCTGGGGACGCTGTAGAAT	0.438		NA											23	125					0	0	0	0
NPTN	27020	broad.mit.edu	37	15	73925476	73925476	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:73925476G>C	uc002avs.2	-	1	278	c.81C>G	c.(79-81)GCC>GCG	p.A27A	NPTN_uc010bjc.2_Silent_p.A27A|NPTN_uc002avt.2_Silent_p.A27A|NPTN_uc002avr.2_Silent_p.A27A|NPTN_uc010ula.1_Silent_p.A27A	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	27					elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						CGTTCTGAGCGGCGCCTGGCC	0.463		NA											15	19					0	0	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18806883	18806883	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:18806883C>G	uc002dfl.1	-	4	380	c.311G>C	c.(310-312)AGA>ACA	p.R104T	ARL6IP1_uc010van.1_Missense_Mutation_p.R75T|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	104						integral to membrane	protein binding				0						TTCATGGAATCTTTGCTGTTG	0.388		NA											4	30					0	0	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364884	30364884	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:30364884A>C	uc002dxr.2	-	4	866	c.613T>G	c.(613-615)TTG>GTG	p.L205V	CD2BP2_uc002dxs.2_Missense_Mutation_p.L205V	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	205					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1						TGGTCGGCCAACCCGGAGAGC	0.657		NA											10	22					0	0	0	0
ITFG1	81533	broad.mit.edu	37	16	47196540	47196540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:47196540G>A	uc002eet.2	-	15	1551	c.1489C>T	c.(1489-1491)CAA>TAA	p.Q497*	ITFG1_uc010vgg.1_Nonsense_Mutation_p.Q242*|ITFG1_uc010vgh.1_Nonsense_Mutation_p.Q384*	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	497						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TATGGTAGTTGGAGAGCTAAA	0.393		NA											19	77					0	0	0	0
CPNE2	221184	broad.mit.edu	37	16	57147238	57147238	+	Silent	SNP	C	C	T	rs138897886		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:57147238C>T	uc002eks.1	+	3	448	c.219C>T	c.(217-219)CCC>CCT	p.P73P	CPNE2_uc010cct.1_Silent_p.P99P|CPNE2_uc010ccu.1_Silent_p.P73P	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	73	C2 1.									central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				ACCTCAACCCCGCCTTCTCCA	0.552		NA											9	66					0	0	0	0
FOXC2	2303	broad.mit.edu	37	16	86600960	86600960	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:86600960G>A	uc002fjq.2	+	1	104	c.19G>A	c.(19-21)GTG>ATG	p.V7M		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	7					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding				0						GCGCTACTCCGTGTCCGACCC	0.592		NA							Late-onset_Hereditary_Lymphedema				15	55					0	0	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348862	89348862	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:89348862C>T	uc002fmx.1	-	9	4549	c.4088G>A	c.(4087-4089)CGA>CAA	p.R1363Q	ANKRD11_uc002fmy.1_Missense_Mutation_p.R1363Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1363Q|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1320Q	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1363	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCTCGCTCTCGGTCGTGGCT	0.562		NA											20	106					0	0	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351117	89351117	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:89351117G>A	uc002fmx.1	-	9	2294	c.1833C>T	c.(1831-1833)TTC>TTT	p.F611F	ANKRD11_uc002fmy.1_Silent_p.F611F|ANKRD11_uc002fnc.1_Silent_p.F611F|ANKRD11_uc002fnb.1_Silent_p.F568F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	611						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGCTGGACAGGAAGGGGCTCT	0.537		NA											12	65					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7579369	7579369	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:7579369G>C	uc002gim.2	-	4	512	c.318C>G	c.(316-318)AGC>AGG	p.S106R	TP53_uc002gig.1_Missense_Mutation_p.S106R|TP53_uc002gih.2_Missense_Mutation_p.S106R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.S106R|TP53_uc010cni.1_Missense_Mutation_p.S106R|TP53_uc002gij.2_Missense_Mutation_p.S106R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.S67R|TP53_uc010cnk.1_Missense_Mutation_p.S121R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	106	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; 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.0?(7)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106fs*17(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		GGAAACCGTAGCTGCCCTGGT	0.617		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)			42	29					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10352202	10352202	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:10352202C>T	uc002gmn.2	-	31	4455	c.4344G>A	c.(4342-4344)AAG>AAA	p.K1448K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1448	Potential.				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						TTCTTTGCTTCTTATCGAGAG	0.433		NA											4	52					0	0	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964569	32964569	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:32964569C>T	uc002hif.2	+	10	2601	c.2273C>T	c.(2272-2274)GCG>GTG	p.A758V		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	758	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGCTCTGCGCTACCCGCA	0.746		NA											5	17					0	0	0	0
KRT37	8688	broad.mit.edu	37	17	39580043	39580043	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:39580043C>T	uc002hwp.1	-	2	593	c.546G>A	c.(544-546)GCG>GCA	p.A182A	uc002hwo.1_RNA	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	182	Rod.|Coil 1B.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				CAGCCAGCTTCGCGTTGTCAA	0.328		NA											12	63					0	0	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175777	40175777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:40175777G>T	uc002hyq.2	+	4	507	c.442G>T	c.(442-444)GAG>TAG	p.E148*	NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Nonsense_Mutation_p.E148*|NKIRAS2_uc002hys.2_Nonsense_Mutation_p.E148*|NKIRAS2_uc010wge.1_Nonsense_Mutation_p.E92*|NKIRAS2_uc002hyt.2_Nonsense_Mutation_p.E148*	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2 isoform a	148	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			ovary(1)	1		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GAAGCTGTGGGAGGTGTCAGT	0.607		NA											12	64					2.62e-11	8.16e-11	1	0
KPNB1	3837	broad.mit.edu	37	17	45745744	45745744	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:45745744G>C	uc002ilt.1	+	10	1528	c.1192G>C	c.(1192-1194)GAG>CAG	p.E398Q	KPNB1_uc010wkw.1_Missense_Mutation_p.E253Q|KPNB1_uc010wkx.1_Missense_Mutation_p.E182Q	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	398	Ran-GTP binding.|HEAT 5.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GGAAGGACCAGAGCCCAGTCA	0.423		NA											9	65					0	0	0	0
MPO	4353	broad.mit.edu	37	17	56355308	56355308	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:56355308G>A	uc002ivu.1	-	7	1261	c.1084C>T	c.(1084-1086)CTG>TTG	p.L362L		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	362					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	ACGGCCAGCAGCCCCAGCTGG	0.647		NA											12	63					0	0	0	0
C17orf77	146723	broad.mit.edu	37	17	72588200	72588200	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:72588200G>A	uc002jla.1	+	3	377	c.15G>A	c.(13-15)GCG>GCA	p.A5A	CD300LD_uc002jkz.2_Intron	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	5						extracellular region					0						ATGAATTGGCGCTGTCATTTT	0.453		NA											21	159					0	0	0	0
GGA3	23163	broad.mit.edu	37	17	73235980	73235980	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:73235980G>A	uc002jni.1	-	13	1482	c.1473C>T	c.(1471-1473)GCC>GCT	p.A491A	GGA3_uc002jnj.1_Silent_p.A458A|GGA3_uc010wrw.1_Silent_p.A369A|GGA3_uc002jnk.1_Silent_p.A419A|GGA3_uc010wrx.1_Silent_p.A369A|GGA3_uc010wry.1_Silent_p.A419A	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	491	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTGGGGCCAAGGCTGGGGCCA	0.637		NA											5	33					0	0	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045219	76045219	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:76045219G>A	uc002jud.2	+	4	676	c.76G>A	c.(76-78)GCA>ACA	p.A26T	TNRC6C_uc002juf.2_Missense_Mutation_p.A26T|TNRC6C_uc002jue.2_Missense_Mutation_p.A26T	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	26	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAATGGCGCACTCGTCCA	0.552		NA											13	74					0	0	0	0
LAMA3	3909	broad.mit.edu	37	18	21330996	21330996	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr18:21330996A>C	uc002kuq.2	+	5	885	c.799A>C	c.(799-801)ACG>CCG	p.T267P	LAMA3_uc010dlv.1_Missense_Mutation_p.T267P|LAMA3_uc002kur.2_Missense_Mutation_p.T267P	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	267	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGAACCAATACGCTTCTTGG	0.438		NA											12	83					0	0	0	0
DOCK6	57572	broad.mit.edu	37	19	11348922	11348922	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:11348922G>C	uc002mqs.3	-	15	1743	c.1702C>G	c.(1702-1704)CGC>GGC	p.R568G	DOCK6_uc010xlq.1_5'Flank|LOC55908_uc010dxw.2_Intron|LOC55908_uc010dxx.2_Missense_Mutation_p.R35P	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	568	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GCAAGGTTGCGCACGGAGCCC	0.672		NA											9	38					0	0	0	0
ZNF43	7594	broad.mit.edu	37	19	21992242	21992242	+	Silent	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:21992242C>A	uc002nqj.2	-	4	727	c.597G>T	c.(595-597)GTG>GTT	p.V199V	ZNF43_uc010ecv.2_Silent_p.V193V|ZNF43_uc002nql.2_Silent_p.V193V|ZNF43_uc002nqm.2_Silent_p.V193V|ZNF43_uc002nqk.2_Silent_p.V129V	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGCAGAAATTCACTCTGGTAT	0.333		NA											9	40					0.000442599	0.00126811	1	0
ZNF536	9745	broad.mit.edu	37	19	30936342	30936342	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:30936342A>G	uc002nsu.1	+	2	2011	c.1873A>G	c.(1873-1875)AAC>GAC	p.N625D	ZNF536_uc010edd.1_Missense_Mutation_p.N625D	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGGTCCTGGGAACATGAAGGA	0.587		NA											22	108					0	0	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38600875	38600875	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:38600875G>A	uc002ohk.2	+	8	2651	c.2142G>A	c.(2140-2142)CGG>CGA	p.R714R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	714	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCTGCTACGGAAGAGGCACA	0.617		NA											12	84					0	0	0	0
PRR12	57479	broad.mit.edu	37	19	50098071	50098071	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:50098071G>A	uc002poo.3	+	4	479	c.479G>A	c.(478-480)CGC>CAC	p.R160H		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCGGCAGCCGCCCCTTCCCA	0.662		NA											6	13					0	0	0	0
NLRP8	126205	broad.mit.edu	37	19	56490773	56490773	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56490773C>T	uc002qmh.2	+	9	2961	c.2890C>T	c.(2890-2892)CTG>TTG	p.L964L	NLRP8_uc010etg.2_Silent_p.L945L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	964						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGAAAACTGCCTGTTCACCTC	0.517		NA											29	48					0	0	0	0
ZNF667	63934	broad.mit.edu	37	19	56953462	56953462	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56953462C>A	uc002qnd.2	-	5	1064	c.902G>T	c.(901-903)AGA>ATA	p.R301I	ZNF667_uc010etl.2_Missense_Mutation_p.R83I|ZNF667_uc002qne.2_Missense_Mutation_p.R301I|ZNF667_uc010etm.2_Missense_Mutation_p.R244I	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	301	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGCATGAATTCTTTTATGTAC	0.328		NA											14	54					0.000219431	0.000635167	1	0
ZNF667	63934	broad.mit.edu	37	19	56953707	56953707	+	Missense_Mutation	SNP	C	C	G	rs140879761		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56953707C>G	uc002qnd.2	-	5	819	c.657G>C	c.(655-657)ATG>ATC	p.M219I	ZNF667_uc010etl.2_Missense_Mutation_p.M1I|ZNF667_uc002qne.2_Missense_Mutation_p.M219I|ZNF667_uc010etm.2_Missense_Mutation_p.M162I	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	219	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATGAATTCTCATATGTAGAA	0.373		NA											26	69					0	0	0	0
ITSN2	50618	broad.mit.edu	37	2	24432884	24432884	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:24432884G>C	uc002rfe.2	-	35	4534	c.4276C>G	c.(4276-4278)CTC>GTC	p.L1426V	ITSN2_uc002rff.2_Missense_Mutation_p.L1399V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	1426					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTGGTGAGAGAGTTGAAA	0.478		NA											32	106					0	0	0	0
NCOA1	8648	broad.mit.edu	37	2	24929454	24929454	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:24929454C>G	uc002rfk.2	+	11	1373	c.1115C>G	c.(1114-1116)TCT>TGT	p.S372C	NCOA1_uc010eye.2_Missense_Mutation_p.S372C|NCOA1_uc002rfi.2_Missense_Mutation_p.S221C|NCOA1_uc002rfj.2_Missense_Mutation_p.S372C|NCOA1_uc002rfl.2_Missense_Mutation_p.S372C	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	372	Interaction with STAT3.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGCTTTCTCCTCAAGAT	0.383		NA	T	PAX3	alveolar rhadomyosarcoma								23	36					0	0	0	0
ALK	238	broad.mit.edu	37	2	29606696	29606696	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:29606696C>T	uc002rmy.2	-	5	2091	c.1184G>A	c.(1183-1185)CGT>CAT	p.R395H		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	395	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTGTCTGGACGCCCGATTCT	0.493		NA	T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				10	103					0	0	0	0
WBP1	23559	broad.mit.edu	37	2	74687380	74687380	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:74687380G>C	uc002slj.1	+	4	535	c.382G>C	c.(382-384)GAG>CAG	p.E128Q	WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Missense_Mutation_p.E125Q|WBP1_uc002sll.1_RNA	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	WW domain binding protein 1	128							WW domain binding				0						CCCAGCCTACGAGGATGTGGT	0.552		NA											46	146					0	0	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377727	97377727	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:97377727G>A	uc002swu.2	-	5	579	c.543C>T	c.(541-543)AAC>AAT	p.N181N	LMAN2L_uc002swv.2_Silent_p.N192N|LMAN2L_uc010yut.1_Silent_p.N47N|LMAN2L_uc010yuu.1_Silent_p.N45N|LMAN2L_uc010yuv.1_Silent_p.N34N|LMAN2L_uc010yuw.1_Silent_p.N36N|LMAN2L_uc002sww.2_Silent_p.N34N|LMAN2L_uc010yux.1_Silent_p.N36N	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	181	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0						TGAGGGAGCCGTTGTTCACCA	0.552		NA											16	121					0	0	0	0
EN1	2019	broad.mit.edu	37	2	119600538	119600538	+	Silent	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:119600538G>T	uc002tlm.2	-	2	2171	c.1155C>A	c.(1153-1155)GTC>GTA	p.V385V		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	385					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						CTTTGTCCTGGACCGTGGTGG	0.498		NA											8	41					1.13e-05	3.3e-05	1	0
LY75	4065	broad.mit.edu	37	2	160673380	160673380	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:160673380G>C	uc002ubc.3	-	30	4386	c.4317C>G	c.(4315-4317)CTC>CTG	p.L1439L	LY75_uc002ubb.3_Silent_p.L1439L|LY75_uc010fos.2_Silent_p.L1439L	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1439	Extracellular (Potential).|C-type lectin 9.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		CTTCCAGAAAGAGCTGGCCAT	0.393		NA											15	84					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179539081	179539081	+	Silent	SNP	T	T	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:179539081T>G	uc010zfg.1	-	146	30989	c.30765A>C	c.(30763-30765)CCA>CCC	p.P10255P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6916P|TTN_uc010fre.1_Silent_p.P763P|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11182							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)			CTATGCTAGGTGGTTCTTCTG	0.333		NA											4	6					0	0	0	0
EPHA4	2043	broad.mit.edu	37	2	222298932	222298932	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:222298932C>T	uc002vmq.2	-	14	2468	c.2426G>A	c.(2425-2427)AGC>AAC	p.S809N	EPHA4_uc002vmr.2_Missense_Mutation_p.S809N|EPHA4_uc010zlm.1_Missense_Mutation_p.S750N|EPHA4_uc010zln.1_Missense_Mutation_p.S809N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	809	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GATTCCATAGCTCCATACATC	0.433		NA											34	57					0	0	0	0
IDH3B	3420	broad.mit.edu	37	20	2640753	2640753	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:2640753G>A	uc002wgp.2	-	9	847	c.838C>T	c.(838-840)CTG>TTG	p.L280L	IDH3B_uc002wgq.2_Silent_p.L280L|IDH3B_uc002wgr.2_Silent_p.L128L	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	280					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	CCAGCAGCCAGATTGTCAATA	0.517		NA											18	89					0	0	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214600	3214600	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:3214600C>T	uc002wig.2	-	5	668	c.620G>A	c.(619-621)GGG>GAG	p.G207E	SLC4A11_uc010zqe.1_Missense_Mutation_p.G234E|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.G191E	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	207	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						GTACCGCACCCCTGTCACTGT	0.622		NA											18	81					0	0	0	0
BPIL1	80341	broad.mit.edu	37	20	31604856	31604856	+	Silent	SNP	G	G	C	rs142934424	by1000genomes	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:31604856G>C	uc002wyj.2	+	7	719	c.525G>C	c.(523-525)CTG>CTC	p.L175L		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	175						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						AGCTGTGCCTGAGCATCTCCA	0.617		NA											28	112					0	0	0	0
SON	6651	broad.mit.edu	37	21	34923284	34923284	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr21:34923284G>C	uc002yse.1	+	3	1796	c.1747G>C	c.(1747-1749)GAG>CAG	p.E583Q	SON_uc002ysb.1_Missense_Mutation_p.E583Q|SON_uc002ysc.2_Missense_Mutation_p.E583Q|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	583					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TAGGGCACTGGAGTTGTCGGG	0.667		NA											12	50					0	0	0	0
C21orf29	54084	broad.mit.edu	37	21	45919706	45919706	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr21:45919706T>A	uc002zfe.1	-	12	2036	c.1970A>T	c.(1969-1971)AAG>ATG	p.K657M	C21orf29_uc010gpv.1_Missense_Mutation_p.K589M	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	657	EAR 7.				cell adhesion	extracellular region	structural molecule activity				0						GAGGGGCTCCTTGGCGCTGGA	0.716		NA											3	6					0	0	0	0
CABIN1	23523	broad.mit.edu	37	22	24567922	24567922	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:24567922A>G	uc002zzi.1	+	34	6126	c.5999A>G	c.(5998-6000)CAC>CGC	p.H2000R	CABIN1_uc002zzj.1_Missense_Mutation_p.H1921R|CABIN1_uc002zzl.1_Missense_Mutation_p.H2000R|CABIN1_uc010gul.1_5'UTR	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2000					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CCCCGGCCACACAGGCCTGAA	0.657		NA											9	42					0	0	0	0
PIWIL3	440822	broad.mit.edu	37	22	25120933	25120933	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:25120933C>G	uc003abd.1	-	18	2596	c.2179G>C	c.(2179-2181)GGA>CGA	p.G727R	PIWIL3_uc011ajx.1_Missense_Mutation_p.G609R|PIWIL3_uc011ajy.1_Missense_Mutation_p.G609R|PIWIL3_uc010gut.1_Missense_Mutation_p.G718R	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	727	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						TGACCATCTCCCACTCCATCC	0.393		NA											10	32					0	0	0	0
YWHAH	7533	broad.mit.edu	37	22	32352249	32352249	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:32352249A>G	uc003alz.2	+	2	452	c.211A>G	c.(211-213)ATG>GTG	p.M71V	YWHAH_uc010gwl.2_Missense_Mutation_p.M1V|YWHAH_uc003ama.2_Missense_Mutation_p.M1V|YWHAH_uc010gwm.2_Missense_Mutation_p.M58V	NM_003405	NP_003396	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan	71					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			central_nervous_system(1)	1						GCAGAAAACCATGGCTGATGG	0.468		NA											12	70					0	0	0	0
FAM116B	414918	broad.mit.edu	37	22	50752289	50752289	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:50752289G>A	uc011aru.1	-	15	1229	c.1157C>T	c.(1156-1158)ACG>ATG	p.T386M	FAM116B_uc011arv.1_Missense_Mutation_p.T386M	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	family with sequence similarity 116, member B	386											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGTGGGCCGTGTAAGCGGT	0.672		NA											9	21					0	0	0	0
IL17RE	132014	broad.mit.edu	37	3	9944734	9944734	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:9944734C>G	uc003btu.2	+	2	235	c.118C>G	c.(118-120)CTG>GTG	p.L40V	CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.L40V|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.L40V|IL17RE_uc003btx.2_5'UTR|IL17RE_uc010hcq.2_Missense_Mutation_p.L40V|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	40	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CCGCTGTCCTCTGGCCTCCCA	0.637		NA											14	45					0	0	0	0
WDR52	55779	broad.mit.edu	37	3	113098399	113098399	+	Splice_Site	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:113098399C>G	uc003eae.1	-	17	2099	c.2053_splice	c.e17-1	p.R685_splice		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2											central_nervous_system(1)	1						CTATTAATCTCTTTTAAAATA	0.343		NA											7	61					0	0	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133482	119133482	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:119133482G>A	uc003ecj.3	+	12	3238	c.2706G>A	c.(2704-2706)CTG>CTA	p.L902L		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	902					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						AGCATGGCCTGGAGATGGTGG	0.572		NA											36	141					0	0	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828902	125828902	+	Silent	SNP	G	G	A	rs141918591		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:125828902G>A	uc003eim.1	-	20	2422	c.2232C>T	c.(2230-2232)ACC>ACT	p.T744T	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.T643T|ALDH1L1_uc003ein.1_Silent_p.T279T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	744	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCCGTGGTCGGTGTCCCTGT	0.597		NA											10	86					0	0	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833454	125833454	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:125833454C>T	uc003eim.1	-	18	2218	c.2028G>A	c.(2026-2028)GGG>GGA	p.G676G	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Silent_p.G575G|ALDH1L1_uc003ein.1_Silent_p.G211G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	676	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGGGTGACTTCCCGCCCAGTT	0.617		NA											6	194					0	0	0	0
ZIC4	84107	broad.mit.edu	37	3	147114162	147114162	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:147114162G>C	uc003ewd.1	-	3	438	c.165C>G	c.(163-165)CCC>CCG	p.P55P	ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Silent_p.P105P	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	55						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						AAGGACGGCTGGGGGAGGCCT	0.721		NA											7	33					0	0	0	0
BCHE	590	broad.mit.edu	37	3	165547586	165547586	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:165547586G>A	uc003fem.3	-	2	1396	c.1236C>T	c.(1234-1236)AAC>AAT	p.N412N	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	412					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCTCACGGTAGTTTTCAGGTC	0.408		NA											70	35					0	0	0	0
LRRC31	79782	broad.mit.edu	37	3	169569457	169569457	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:169569457G>A	uc003fgc.1	-	7	1186	c.1109C>T	c.(1108-1110)TCA>TTA	p.S370L	LRRC31_uc010hwp.1_Missense_Mutation_p.S314L	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	370	LRR 6.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GATAACTAATGACTTCAATGC	0.413		NA											9	78					0	0	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258233	25258233	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:25258233G>A	uc003grk.2	+	4	826	c.693G>A	c.(691-693)AAG>AAA	p.K231K	PI4K2B_uc011bxs.1_Silent_p.K135K	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	231	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	p.K231K(1)		ovary(2)|skin(2)	4		Breast(46;0.173)				GAGGCAAAAAGTATGCTTTAG	0.373		NA											5	35					0	0	0	0
MOBKL1A	92597	broad.mit.edu	37	4	71840892	71840892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:71840892G>T	uc003hfw.2	+	4	488	c.298G>T	c.(298-300)GGA>TGA	p.G100*	MOBKL1A_uc003hfv.1_Nonsense_Mutation_p.G100*|MOBKL1A_uc011cba.1_Nonsense_Mutation_p.G105*	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	100					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			TTGGGCAGATGGAACGAACAT	0.348		NA											6	43					5.94e-07	1.78e-06	1	0
FAM175A	84142	broad.mit.edu	37	4	84383771	84383771	+	Silent	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:84383771G>T	uc003hou.2	-	9	1146	c.1081C>A	c.(1081-1083)CGG>AGG	p.R361R	MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Silent_p.R189R|FAM175A_uc003hov.2_Silent_p.R252R	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	361					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1						TCTAACAACCGAGATCTCTTG	0.393		NA											34	120					1.27e-14	4e-14	1	0
ARSJ	79642	broad.mit.edu	37	4	114824711	114824711	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:114824711C>T	uc003ibq.1	-	2	1407	c.519G>A	c.(517-519)ATG>ATA	p.M173I	ARSJ_uc010imu.1_Missense_Mutation_p.M173I|ARSJ_uc010imv.1_Missense_Mutation_p.M1I	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	173						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ATTTTCCGACCATATGCGTTG	0.433		NA											16	83					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187517874	187517874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:187517874C>A	uc003izf.2	-	25	13008	c.12820G>T	c.(12820-12822)GAA>TAA	p.E4274*	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Nonsense_Mutation_p.E165*	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4274	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GCAGATCCTTCGAAGGAATTT	0.532		NA								HNSCC(5;0.00058)			19	14					7.45e-12	2.34e-11	1	0
SLC6A18	348932	broad.mit.edu	37	5	1232407	1232407	+	Silent	SNP	C	C	T	rs141321317	byFrequency	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:1232407C>T	uc003jby.1	+	2	357	c.234C>T	c.(232-234)ATC>ATT	p.I78I		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	78	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGCTCGCCATCGGCCAGCGGC	0.662		NA											5	44					0	0	0	0
RXFP3	51289	broad.mit.edu	37	5	33937333	33937333	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:33937333C>T	uc003jic.1	+	1	845	c.488C>T	c.(487-489)TCC>TTC	p.S163F		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	163	Helical; Name=3; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						ATGGTGACGTCCATGAACATG	0.582		NA											18	66					0	0	0	0
ITGA2	3673	broad.mit.edu	37	5	52376453	52376453	+	Splice_Site	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:52376453T>C	uc003joy.2	+	25	3182	c.3039_splice	c.e25+2	p.K1013_splice	ITGA2_uc011cqa.1_Splice_Site|ITGA2_uc011cqb.1_Splice_Site|ITGA2_uc011cqc.1_Splice_Site_p.K937_splice|ITGA2_uc011cqd.1_Splice_Site|ITGA2_uc011cqe.1_Splice_Site	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor						axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACAGACAAGGTAAAGATTAAA	0.383		NA											19	47					0	0	0	0
NLN	57486	broad.mit.edu	37	5	65054536	65054536	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:65054536G>C	uc003juf.2	+	2	300	c.184G>C	c.(184-186)GAG>CAG	p.E62Q	NLN_uc003jue.2_Missense_Mutation_p.E62Q	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	62					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AACAAGAACTGAGGAGCTCAT	0.448		NA											15	39					0	0	0	0
SPZ1	84654	broad.mit.edu	37	5	79616524	79616524	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:79616524C>G	uc003kgn.2	+	1	735	c.490C>G	c.(490-492)CTT>GTT	p.L164V	uc011ctk.1_Intron	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TATCAGAGGACTTGACAAAAT	0.368		NA											7	33					0	0	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139865277	139865277	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:139865277A>T	uc003lfs.1	+	13	2226	c.2102A>T	c.(2101-2103)GAT>GTT	p.D701V	ANKHD1_uc003lfq.1_Missense_Mutation_p.D720V|ANKHD1_uc003lfr.2_Missense_Mutation_p.D701V|ANKHD1_uc003lft.1_Missense_Mutation_p.D181V|ANKHD1_uc003lfu.1_Missense_Mutation_p.D181V|ANKHD1_uc003lfv.1_Missense_Mutation_p.D31V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	701						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCACAGATGTGTCTCAG	0.378		NA											9	34					0	0	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793166	140793166	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:140793166C>G	uc003lkl.1	+	1	424	c.424C>G	c.(424-426)CTA>GTA	p.L142V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.L142V	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	142	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAAAATCTAGACGTAAA	0.413		NA											10	26					0	0	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816398	156816398	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:156816398T>A	uc003lwq.2	+	31	3547	c.3409T>A	c.(3409-3411)TAC>AAC	p.Y1137N	CYFIP2_uc011ddn.1_Missense_Mutation_p.Y1111N|CYFIP2_uc011ddo.1_Missense_Mutation_p.Y941N|CYFIP2_uc003lwr.2_Missense_Mutation_p.Y1137N|CYFIP2_uc003lws.2_Missense_Mutation_p.Y1137N|CYFIP2_uc003lwt.2_Missense_Mutation_p.Y1040N|CYFIP2_uc011ddp.1_Missense_Mutation_p.Y871N|CYFIP2_uc003lwv.2_Missense_Mutation_p.Y92N	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1162					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)			GCAGTTCGTGTACTGCATCCC	0.622		NA											7	15					0	0	0	0
KIAA0319	9856	broad.mit.edu	37	6	24570136	24570136	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:24570136G>A	uc011djo.1	-	12	2223	c.1986C>T	c.(1984-1986)CAC>CAT	p.H662H	KIAA0319_uc011djp.1_Silent_p.H617H|KIAA0319_uc003neh.1_Silent_p.H662H|KIAA0319_uc011djq.1_Silent_p.H653H|KIAA0319_uc011djr.1_Silent_p.H662H|KIAA0319_uc010jpt.1_Silent_p.H73H	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	662	PKD 4.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						ACTACCTGACGTGCTCCCAGT	0.527		NA											10	21					0	0	0	0
MDC1	9656	broad.mit.edu	37	6	30668370	30668370	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:30668370G>T	uc003nrg.3	-	15	6582	c.6142C>A	c.(6142-6144)CAT>AAT	p.H2048N	MDC1_uc003nrf.3_Missense_Mutation_p.H679N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2048	Required for nuclear localization (NLS2).|BRCT 2.			H -> R (in Ref. 2).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						ATGGAGCAATGAGGGAAGTCC	0.537		NA						Other_conserved_DNA_damage_response_genes					6	91					2.01e-06	5.99e-06	1	0
HSPA1L	3305	broad.mit.edu	37	6	31778361	31778361	+	Silent	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:31778361C>G	uc003nxh.2	-	2	1572	c.1389G>C	c.(1387-1389)CTG>CTC	p.L463L	HSPA1L_uc010jte.2_Silent_p.L463L	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	463					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						GGATTCCAGTCAGGTCAAACC	0.552		NA											34	100					0	0	0	0
TEAD3	7005	broad.mit.edu	37	6	35443391	35443391	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:35443391G>A	uc003oku.3	-	11	1229	c.993C>T	c.(991-993)GTC>GTT	p.V331V	TEAD3_uc003okt.2_Silent_p.V220V|TEAD3_uc010jvx.2_Silent_p.V271V	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	331	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCTTGGTGGAGACGCTGATGG	0.617		NA											13	42					0	0	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567050	84567050	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:84567050C>G	uc003pke.2	+	4	480	c.329C>G	c.(328-330)TCA>TGA	p.S110*	CYB5R4_uc003pkf.2_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	ripply2 protein	110	Ripply homology domain.				somite rostral/caudal axis specification	nucleus					0						GCCACAATTTCATTTTATGAA	0.323		NA											15	53					0	0	0	0
EPHA7	2045	broad.mit.edu	37	6	94066437	94066437	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:94066437G>T	uc003poe.2	-	5	1563	c.1322C>A	c.(1321-1323)GCA>GAA	p.A441E	EPHA7_uc003pof.2_Missense_Mutation_p.A441E|EPHA7_uc011eac.1_Missense_Mutation_p.A441E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	441	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAACATACCTGCTTGACCAGT	0.398		NA											9	39					7.48e-07	2.24e-06	1	0
SNX3	8724	broad.mit.edu	37	6	108533400	108533400	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:108533400C>T	uc003psh.2	-	4	781	c.442G>A	c.(442-444)GAA>AAA	p.E148K	SNX3_uc003psi.2_Missense_Mutation_p.E116K|SNX3_uc010kdi.2_RNA	NM_003795	NP_003786	O60493	SNX3_HUMAN	sorting nexin 3 isoform a	148	PX.				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding				0		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		TCTATTATTTCATCTTGTAAA	0.338		NA											4	23					0	0	0	0
ZBTB24	9841	broad.mit.edu	37	6	109796641	109796641	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:109796641C>A	uc003ptl.1	-	5	1417	c.1249G>T	c.(1249-1251)GAT>TAT	p.D417Y	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.D361Y|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	417	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.D417Y(1)		ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGAGACACATCCATGAATTTG	0.458		NA											16	73					3.41e-10	1.06e-09	1	0
RSPH10B2	728194	broad.mit.edu	37	7	6820509	6820509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:6820509C>A	uc003sqw.1	+	14	1870	c.1599C>A	c.(1597-1599)TGC>TGA	p.C533*	RSPH10B2_uc010ktk.1_Nonsense_Mutation_p.C533*|RSPH10B2_uc011jxc.1_Intron|RSPH10B2_uc010ktl.1_Intron	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	533										ovary(1)|pancreas(1)|skin(1)	3						CAAATGCCTGCCAGATAAAAG	0.303		NA											5	140					4.69e-08	1.42e-07	1	0
NXPH1	30010	broad.mit.edu	37	7	8791329	8791329	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:8791329A>G	uc003srv.2	+	3	1657	c.746A>G	c.(745-747)TAT>TGT	p.Y249C	NXPH1_uc011jxh.1_Missense_Mutation_p.Y132C	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	249	V (Cys-rich).					extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTACAGATTATAAACTGGTA	0.448		NA											7	20					0	0	0	0
ITGB8	3696	broad.mit.edu	37	7	20421484	20421484	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:20421484C>T	uc003suu.2	+	6	1641	c.936C>T	c.(934-936)AAC>AAT	p.N312N	ITGB8_uc011jyh.1_Silent_p.N177N|ITGB8_uc003sut.2_Silent_p.N312N	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	312	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						TGAAAAACAACGTCTATGTCA	0.413		NA											5	52					0	0	0	0
SP4	6671	broad.mit.edu	37	7	21550740	21550740	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:21550740G>A	uc003sva.2	+	6	2389	c.2208G>A	c.(2206-2208)GGG>GGA	p.G736G	SP4_uc003svb.2_Silent_p.G423G	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	736					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						AAGGTGGTGGGACAGCTCTTG	0.448		NA											9	92					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21639716	21639716	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:21639716C>T	uc003svc.2	+	15	3010	c.2979C>T	c.(2977-2979)CAC>CAT	p.H993H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	993	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TAGCAACACACCTGGAAATTA	0.303		NA							Kartagener_syndrome				5	61					0	0	0	0
BMPER	168667	broad.mit.edu	37	7	34125518	34125518	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:34125518A>T	uc011kap.1	+	13	1673	c.1559A>T	c.(1558-1560)GAT>GTT	p.D520V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	520	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						TTTGATGTGGATGACTTTGCT	0.468		NA											27	88					0	0	0	0
AMPH	273	broad.mit.edu	37	7	38530746	38530746	+	Splice_Site	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:38530746C>G	uc003tgu.2	-	5	370	c.301_splice	c.e5-1	p.K101_splice	AMPH_uc003tgv.2_Splice_Site_p.K101_splice	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						CATCACATTTCTAAAAGAAAT	0.353		NA											16	143					0	0	0	0
TBL2	26608	broad.mit.edu	37	7	72988772	72988772	+	Silent	SNP	G	G	T	rs145718922		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:72988772G>T	uc003tyh.2	-	2	336	c.202C>A	c.(202-204)CGG>AGG	p.R68R	TBL2_uc011kex.1_Silent_p.R32R|TBL2_uc010lbg.2_5'UTR|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_5'UTR|TBL2_uc010lbh.2_Intron	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	68											0		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTCCTTCCGAATCCGCTGA	0.522		NA											14	59					9.31e-06	2.74e-05	1	0
GTF2IRD1	9569	broad.mit.edu	37	7	73969808	73969808	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:73969808G>A	uc003uaq.2	+	19	2445	c.2052G>A	c.(2050-2052)AAG>AAA	p.K684K	GTF2IRD1_uc010lbq.2_Silent_p.K701K|GTF2IRD1_uc003uap.2_Silent_p.K669K|GTF2IRD1_uc003uar.1_Silent_p.K669K	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	684						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						AGAGCCTGAAGAGACAGGGCT	0.607		NA											6	27					0	0	0	0
SRRT	51593	broad.mit.edu	37	7	100485056	100485056	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:100485056G>A	uc003uwy.2	+	17	2359	c.2091G>A	c.(2089-2091)GTG>GTA	p.V697V	SRRT_uc010lhl.1_Silent_p.V696V|SRRT_uc003uxa.2_Silent_p.V696V|SRRT_uc003uwz.2_Silent_p.V697V	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	697					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						AGCAGGAAGTGGAGAAGTTCG	0.547		NA											31	62					0	0	0	0
DOCK4	9732	broad.mit.edu	37	7	111617324	111617324	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:111617324A>T	uc003vfx.2	-	8	833	c.564T>A	c.(562-564)CAT>CAA	p.H188Q	DOCK4_uc003vfy.2_Missense_Mutation_p.H188Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.H188Q|DOCK4_uc003vgb.1_Missense_Mutation_p.H112Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CTTTCTTCCGATGTCGATGTT	0.502		NA											5	16					0	0	0	0
TMEM168	64418	broad.mit.edu	37	7	112407527	112407527	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:112407527C>T	uc003vgn.2	-	5	2211	c.1819G>A	c.(1819-1821)GAA>AAA	p.E607K	TMEM168_uc010lju.2_Missense_Mutation_p.E607K|TMEM168_uc011kmr.1_Missense_Mutation_p.E223K	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	607						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						CGTCCCTTTTCAGTCCAGCAG	0.463		NA											8	58					0	0	0	0
TRPV5	56302	broad.mit.edu	37	7	142606703	142606703	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:142606703G>A	uc003wby.1	-	14	2112	c.1848C>T	c.(1846-1848)TCC>TCT	p.S616S		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	616	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					CACAGATCCCGGAGCGAGGCC	0.597		NA											10	64					0	0	0	0
ZNF862	643641	broad.mit.edu	37	7	149557670	149557670	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:149557670C>A	uc010lpn.2	+	7	1613	c.1421C>A	c.(1420-1422)CCA>CAA	p.P474Q	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	474	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GGGCAGTTCCCATGGTTAGTA	0.473		NA											30	145					7.01e-11	2.17e-10	1	0
SNX16	64089	broad.mit.edu	37	8	82752108	82752108	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr8:82752108A>T	uc011lft.1	-	3	621	c.114T>A	c.(112-114)AAT>AAA	p.N38K	SNX16_uc003ycn.2_Missense_Mutation_p.N38K|SNX16_uc003yco.2_Missense_Mutation_p.N38K	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a	38					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			ovary(1)|pancreas(1)	2						CCTTAGAAGAATTTGAGCTTG	0.393		NA											37	64					0	0	0	0
GPR172A	79581	broad.mit.edu	37	8	145584478	145584478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr8:145584478C>G	uc003zcc.1	+	5	1298	c.1141C>G	c.(1141-1143)CTG>GTG	p.L381V	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.L381V|GPR172A_uc003zce.1_Missense_Mutation_p.L381V|GPR172A_uc010mfy.1_Missense_Mutation_p.L381V|GPR172A_uc003zcf.1_Missense_Mutation_p.L381V|GPR172A_uc011llc.1_Missense_Mutation_p.L293V	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	381	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCGTGGGTGCTGTGTCTTGG	0.677		NA											18	76					0	0	0	0
MPDZ	8777	broad.mit.edu	37	9	13107074	13107074	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:13107074C>T	uc010mhy.2	-	45	6067	c.6016G>A	c.(6016-6018)GAT>AAT	p.D2006N	MPDZ_uc003zkx.3_Missense_Mutation_p.D230N|MPDZ_uc003zky.3_Missense_Mutation_p.D569N|MPDZ_uc010mib.2_Missense_Mutation_p.D740N|MPDZ_uc010mhx.2_Missense_Mutation_p.D857N|MPDZ_uc011lmm.1_Missense_Mutation_p.D894N|MPDZ_uc003zkz.3_Missense_Mutation_p.D728N|MPDZ_uc010mhz.2_Missense_Mutation_p.D2002N|MPDZ_uc011lmn.1_Missense_Mutation_p.D1973N|MPDZ_uc003zlb.3_Missense_Mutation_p.D2006N	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2035	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGATCTGATCGCCCCTTTTC	0.448		NA											63	89					0	0	0	0
GBA2	57704	broad.mit.edu	37	9	35741826	35741826	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:35741826C>T	uc003zxw.2	-	4	1153	c.629G>A	c.(628-630)CGC>CAC	p.R210H	GBA2_uc011lpb.1_Missense_Mutation_p.R210H|GBA2_uc011lpc.1_Missense_Mutation_p.R210H|GBA2_uc011lpd.1_Missense_Mutation_p.R216H|GBA2_uc003zxy.1_5'UTR	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	210	Extracellular (Potential).				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			ovary(3)|skin(1)	4	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACTTGGGCGCTCCAGGGA	0.587		NA											15	66					0	0	0	0
GOLM1	51280	broad.mit.edu	37	9	88650342	88650342	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:88650342T>A	uc004aol.2	-	8	1154	c.956A>T	c.(955-957)GAG>GTG	p.E319V	GOLM1_uc004aom.2_Missense_Mutation_p.E319V	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	319	Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0						CTGGTCTCGCTCAGGGCCCTC	0.647		NA									OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	110					0	0	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499644	104499644	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:104499644C>G	uc004bbp.1	-	1	1219	c.618G>C	c.(616-618)ATG>ATC	p.M206I	GRIN3A_uc004bbq.1_Missense_Mutation_p.M206I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	206	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CGAGCTCCATCATTTCGCCCT	0.602		NA											36	22					0	0	0	0
FAM102A	399665	broad.mit.edu	37	9	130712747	130712747	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:130712747C>T	uc004bsx.1	-	4	448	c.369G>A	c.(367-369)GAG>GAA	p.E123E	FAM102A_uc004bsw.1_5'UTR|FAM102A_uc004bsy.1_5'Flank	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	123										ovary(1)	1						TGTCATATCCCTCGAGCAGGC	0.622		NA											10	91					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402771	139402771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:139402771G>A	uc004chz.2	-	20	3238	c.3238C>T	c.(3238-3240)CAG>TAG	p.Q1080*	NOTCH1_uc004cia.1_Nonsense_Mutation_p.Q310*	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1080	Extracellular (Potential).|EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCGGTACTGGGTGTGGGTC	0.652		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			68	64					0	0	0	0
TLR8	51311	broad.mit.edu	37	X	12938009	12938009	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:12938009C>G	uc004cve.2	+	2	918	c.850C>G	c.(850-852)CAA>GAA	p.Q284E	TLR8_uc004cvd.2_Missense_Mutation_p.Q302E	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	284	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TTTTGCTTTTCAAAACTTGAC	0.438		NA											14	19					0	0	0	0
PPEF1	5475	broad.mit.edu	37	X	18748392	18748392	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:18748392C>G	uc004cyq.2	+	5	621	c.140C>G	c.(139-141)TCC>TGC	p.S47C	PPEF1_uc004cyp.2_Missense_Mutation_p.S47C|PPEF1_uc004cyr.2_Missense_Mutation_p.S47C|PPEF1_uc004cys.2_Missense_Mutation_p.S47C|PPEF1_uc011mja.1_Intron|PPEF1_uc011mjb.1_5'UTR	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	47					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)					ATCTTCCAGTCCATCGAATAT	0.443		NA											18	28					0	0	0	0
WNK3	65267	broad.mit.edu	37	X	54259359	54259359	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:54259359G>T	uc004dtd.1	-	21	5021	c.4582C>A	c.(4582-4584)CAA>AAA	p.Q1528K	WNK3_uc004dtc.1_Missense_Mutation_p.Q1575K	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1528					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.Q1575*(1)		lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TCAGTAGATTGGGTTTTGCTA	0.468		NA											18	28					8.1e-08	2.45e-07	1	0
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:154962050delA	uc001fgf.1	+	3	1486	c.1132delA	c.(1132-1134)AAAfs	p.K378fs	FLAD1_uc001fgd.1_Frame_Shift_Del_p.K378fs|FLAD1_uc001fge.1_Frame_Shift_Del_p.K281fs|FLAD1_uc001fgg.1_Frame_Shift_Del_p.K281fs|FLAD1_uc001fgh.1_Intron	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	378					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.488		NA											7	167	---	---	---	---	NA	NA	NA	NA
MR1	3140	broad.mit.edu	37	1	181021478	181021478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:181021478delA	uc001goq.1	+	4	717	c.712delA	c.(712-714)AAAfs	p.K238fs	MR1_uc001gor.1_Frame_Shift_Del_p.K193fs|MR1_uc001gos.1_Intron|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	238	Extracellular (Potential).|Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						GACATGGATGAAAAACGGGGA	0.443		NA											8	60	---	---	---	---	NA	NA	NA	NA
CEP164	22897	broad.mit.edu	37	11	117266774	117266780	+	Frame_Shift_Del	DEL	CTGGAGG	CTGGAGG	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:117266774_117266780delCTGGAGG	uc001prc.2	+	25	3241_3247	c.3094_3100delCTGGAGG	c.(3094-3102)CTGGAGGCTfs	p.L1032fs	CEP164_uc001prb.2_Frame_Shift_Del_p.L1035fs|CEP164_uc010rxk.1_Frame_Shift_Del_p.L1006fs|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Frame_Shift_Del_p.L465fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1032_1034					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCACAGCAGCCTGGAGGCTGAAGCTCA	0.546		NA											17	75	---	---	---	---	NA	NA	NA	NA
KRT14	3861	broad.mit.edu	37	17	39742774	39742785	+	In_Frame_Del	DEL	CAAAGCCACCAC	CAAAGCCACCAC	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:39742774_39742785delCAAAGCCACCAC	uc002hxf.1	-	1	363_374	c.302_313delGTGGTGGCTTTG	c.(301-315)GGTGGTGGCTTTGCT>GCT	p.GGGF101del	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_In_Frame_Del_p.GGGF101del	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	101_104	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				tcaccaccagcaaagccaccaccaaagccacc	0.349		NA											12	91	---	---	---	---	NA	NA	NA	NA
ATP11B	23200	broad.mit.edu	37	3	182575744	182575745	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:182575744_182575745insT	uc003flb.2	+	11	1187_1188	c.930_931insT	c.(928-933)ACATGGfs	p.T310fs		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	310_311	Helical; (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGAAGTATACATGGCAAGCTGA	0.312		NA											23	79	---	---	---	---	NA	NA	NA	NA
DST	667	broad.mit.edu	37	6	56426298	56426313	+	Frame_Shift_Del	DEL	TTCATAACCATGACTT	TTCATAACCATGACTT	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:56426298_56426313delTTCATAACCATGACTT	uc003pdf.2	-	51	7774_7789	c.7746_7761delAAGTCATGGTTATGAA	c.(7744-7761)ATAAGTCATGGTTATGAAfs	p.I2582fs	DST_uc003pcz.3_Frame_Shift_Del_p.I2404fs|DST_uc011dxj.1_Frame_Shift_Del_p.I2433fs|DST_uc011dxk.1_Frame_Shift_Del_p.I2444fs|DST_uc003pcy.3_Frame_Shift_Del_p.I2078fs	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4490_4495					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCCAAGATCTTCATAACCATGACTTATGTCAGTCA	0.384		NA											10	90	---	---	---	---	NA	NA	NA	NA