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
C1orf135	79000	broad.mit.edu	37	1	26161639	26161639	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:26161639G>C	uc001bkw.1	-	3	919	c.919C>G	c.(919-921)CAA>GAA	p.Q307E		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	307											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACATCTTGAAAAGGAGCT	0.483		NA											134	144					0	0	0	0
TMEM54	113452	broad.mit.edu	37	1	33360939	33360939	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:33360939C>G	uc001bwi.1	-	5	675	c.561G>C	c.(559-561)CTG>CTC	p.L187L	TMEM54_uc001bwj.1_Silent_p.L134L|TMEM54_uc001bwk.1_Silent_p.L167L	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	transmembrane protein 54	187						integral to membrane					0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGGCCTCAGCTCCAGCA	0.642		NA											12	9					0	0	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047150	42047150	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:42047150C>T	uc001cgz.3	-	4	4532	c.3319G>A	c.(3319-3321)GAC>AAC	p.D1107N	HIVEP3_uc001cha.3_Missense_Mutation_p.D1107N|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1107					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGCCTGTCCTGCCCTGGG	0.622		NA											48	38					0	0	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704848	52704848	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:52704848C>A	uc001cto.2	+	4	1931	c.1759C>A	c.(1759-1761)CTT>ATT	p.L587I	ZFYVE9_uc001ctn.2_Missense_Mutation_p.L587I|ZFYVE9_uc001ctp.2_Missense_Mutation_p.L587I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	587					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						ACCTTCTAATCTTAAACTTCA	0.388		NA											35	27					1.22e-17	1.35e-17	1	0
NBPF10	100132406	broad.mit.edu	37	1	145301751	145301751	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:145301751T>A	uc001end.3	+	7	1055	c.1020T>A	c.(1018-1020)TTT>TTA	p.F340L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.F340L|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.F69L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	340											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCATAAAATTTATGCTGAGGA	0.527		NA											71	462					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:145367739A>G	uc001end.3	+	85	10595	c.10560A>G	c.(10558-10560)AAA>AAG	p.K3520K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3445											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.244		NA											3	84					0	0	0	0
LASS2	29956	broad.mit.edu	37	1	150940939	150940939	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:150940939G>A	uc001evy.2	-	3	610	c.223C>T	c.(223-225)CGG>TGG	p.R75W	LASS2_uc001evz.2_Missense_Mutation_p.R75W|LASS2_uc009wmh.2_5'UTR	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	LAG1 longevity assurance 2	75	Cytoplasmic (Potential).|Homeobox.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCCGCAGCCGAGTTTTCTCC	0.562		NA											16	62					0	0	0	0
LINGO4	339398	broad.mit.edu	37	1	151774265	151774265	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:151774265G>A	uc001ezf.1	-	2	1106	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	306	Extracellular (Potential).|LRR 10.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGACAGGCGTAGCTCCTGG	0.612		NA											10	55					0	0	0	0
RPTN	126638	broad.mit.edu	37	1	152128885	152128885	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:152128885C>T	uc001ezs.1	-	3	755	c.690G>A	c.(688-690)CGG>CGA	p.R230R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	230	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						GTTTTTCACACCGATTTAAGG	0.418		NA											81	173					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152187530	152187530	+	Nonsense_Mutation	SNP	G	G	T	rs77317029		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:152187530G>T	uc001ezt.1	-	3	6651	c.6575C>A	c.(6574-6576)TCG>TAG	p.S2192*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2192	24				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCGAACCGGACCC	0.632		NA											7	379					3.6e-14	3.96e-14	1	0
HMCN1	83872	broad.mit.edu	37	1	185815158	185815158	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:185815158A>T	uc001grq.1	+	2	498	c.269A>T	c.(268-270)GAA>GTA	p.E90V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	90	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATCTTCACAGAAATTGGCCCA	0.363		NA											6	44					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	186084057	186084057	+	Nonsense_Mutation	SNP	C	C	T	rs150673369		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:186084057C>T	uc001grq.1	+	74	11612	c.11383C>T	c.(11383-11385)CGA>TGA	p.R3795*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3795	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R3795*(1)		ovary(22)|skin(1)	23						AGATCGCAGGCGAATAGATTT	0.423		NA											7	154					0	0	0	0
WNT9A	7483	broad.mit.edu	37	1	228109319	228109319	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:228109319C>T	uc001hri.2	-	4	1086	c.998G>A	c.(997-999)CGG>CAG	p.R333Q		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	333					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				TGTCACCACCCGGCTCTGTGT	0.652		NA											8	38					0	0	0	0
RBM34	23029	broad.mit.edu	37	1	235324512	235324512	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:235324512C>G	uc001hwn.2	-	1	60	c.30G>C	c.(28-30)AAG>AAC	p.K10N	RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.K10N	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	10						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCTCTTTCTCTTCCGTTTGC	0.622		NA											60	116					0	0	0	0
OR2G2	81470	broad.mit.edu	37	1	247752273	247752273	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:247752273G>A	uc010pyy.1	+	1	612	c.612G>A	c.(610-612)GTG>GTA	p.V204V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGCTTTTTGTGGCTAGTATCC	0.512		NA											19	80					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	17113504	17113504	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:17113504G>A	uc001ioo.2	-	19	2598	c.2546C>T	c.(2545-2547)CCC>CTC	p.P849L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	849	CUB 4.				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)	TTGGCTTTGGGGCTGGTGGAT	0.458		NA											3	63					0	0	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648790	62648790	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:62648790C>T	uc001jli.2	-	7	1074	c.636G>A	c.(634-636)AGG>AGA	p.R212R	RHOBTB1_uc001jlh.2_Silent_p.R212R|RHOBTB1_uc001jlj.2_Silent_p.R212R|RHOBTB1_uc001jlk.2_Silent_p.R212R|RHOBTB1_uc009xpe.1_Silent_p.R150R|RHOBTB1_uc001jll.2_5'UTR	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	212					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					ATTGCAGGTGCCTGCGGGAAA	0.473		NA											47	174					0	0	0	0
WAPAL	23063	broad.mit.edu	37	10	88203112	88203112	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:88203112G>A	uc001kdo.2	-	17	3773	c.3331C>T	c.(3331-3333)CAT>TAT	p.H1111Y	WAPAL_uc009xsv.2_Missense_Mutation_p.H370Y|WAPAL_uc001kdn.2_Missense_Mutation_p.H1148Y|WAPAL_uc009xsw.2_Missense_Mutation_p.H1105Y	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	1111	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TTGCCGGCATGCTGAAGGGCT	0.398		NA											10	45					0	0	0	0
KCNIP2	30819	broad.mit.edu	37	10	103588905	103588905	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:103588905C>A	uc001kub.2	-	4	627	c.275G>T	c.(274-276)GGT>GTT	p.G92V	KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.V14F|KCNIP2_uc001ktz.2_Missense_Mutation_p.G47V|KCNIP2_uc009xwu.2_Missense_Mutation_p.G42V|KCNIP2_uc009xwv.2_Missense_Mutation_p.G42V|KCNIP2_uc001kuc.2_Missense_Mutation_p.G107V|KCNIP2_uc001kue.2_Missense_Mutation_p.G74V|KCNIP2_uc001kud.2_Missense_Mutation_p.G42V|KCNIP2_uc001kuf.2_Missense_Mutation_p.G42V|KCNIP2_uc001kua.2_Missense_Mutation_p.V14F|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.G47V|KCNIP2_uc010qqi.1_Missense_Mutation_p.G42V	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2 isoform 2	92	EF-hand 1; degenerate.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding				0		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CTGCTCCAGACCCTCAGGCCG	0.617		NA											7	18					5.18e-06	5.47e-06	1	0
PPRC1	23082	broad.mit.edu	37	10	103901291	103901291	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:103901291G>A	uc001kum.2	+	5	3065	c.3026G>A	c.(3025-3027)AGA>AAA	p.R1009K	PPRC1_uc001kun.2_Missense_Mutation_p.R889K|PPRC1_uc010qqj.1_Missense_Mutation_p.R1009K|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1009	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCATTGGGAGAGCTGTTCCC	0.572		NA											9	40					0	0	0	0
SHOC2	8036	broad.mit.edu	37	10	112760233	112760233	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:112760233G>C	uc001kzl.3	+	4	1251	c.902G>C	c.(901-903)AGA>ACA	p.R301T	SHOC2_uc009xxx.2_Missense_Mutation_p.R301T|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Missense_Mutation_p.R255T	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	301	LRR 9.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCAATACCCAGATCATTAGCA	0.323		NA											11	38					0	0	0	0
PRMT3	10196	broad.mit.edu	37	11	20483563	20483563	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:20483563G>T	uc001mqb.2	+	12	1327	c.1110G>T	c.(1108-1110)GTG>GTT	p.V370V	PRMT3_uc001mqc.2_Silent_p.V293V|PRMT3_uc010rdn.1_Silent_p.V308V	NM_005788	NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3 isoform 1	370							zinc ion binding				0						TTGTAGCAGTGAGTGATGTGA	0.373		NA											23	93					9.58e-11	1.05e-10	1	0
CCDC34	91057	broad.mit.edu	37	11	27362349	27362349	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:27362349C>G	uc001mrh.1	-	5	855	c.801G>C	c.(799-801)GAG>GAC	p.E267D		NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	267	Potential.										0						TTTCCTTTTTCTCCTGTATTT	0.343		NA											16	46					0	0	0	0
DCDC1	341019	broad.mit.edu	37	11	31329370	31329370	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:31329370G>C	uc001msv.2	-	4	452	c.250C>G	c.(250-252)CAT>GAT	p.H84D	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	84					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					GCTGCTGAATGCACGAGTCTG	0.423		NA											39	149					0	0	0	0
QSER1	79832	broad.mit.edu	37	11	32956153	32956153	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956153G>C	uc001mty.2	+	4	3229	c.2962G>C	c.(2962-2964)GAA>CAA	p.E988Q	QSER1_uc001mtz.1_Missense_Mutation_p.E749Q|QSER1_uc001mua.2_Missense_Mutation_p.E493Q	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	988										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TCTTGAATCTGAAGAAGACAG	0.393		NA											14	46					0	0	0	0
QSER1	79832	broad.mit.edu	37	11	32956461	32956461	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956461G>C	uc001mty.2	+	4	3537	c.3270G>C	c.(3268-3270)CAG>CAC	p.Q1090H	QSER1_uc001mtz.1_Missense_Mutation_p.Q851H|QSER1_uc001mua.2_Missense_Mutation_p.Q595H	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1090										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					ACAGTAATCAGAAACAGCTGA	0.398		NA											21	82					0	0	0	0
QSER1	79832	broad.mit.edu	37	11	32956840	32956840	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956840G>C	uc001mty.2	+	4	3916	c.3649G>C	c.(3649-3651)GAT>CAT	p.D1217H	QSER1_uc001mtz.1_Missense_Mutation_p.D978H|QSER1_uc001mua.2_Missense_Mutation_p.D722H	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1217										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					AGATAAAGTTGATAATGAACT	0.398		NA											35	136					0	0	0	0
ACP2	53	broad.mit.edu	37	11	47261735	47261735	+	Missense_Mutation	SNP	C	C	T	rs4647764		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:47261735C>T	uc001nei.2	-	11	1321	c.1204G>A	c.(1204-1206)GTC>ATC	p.V402I	ACP2_uc010rhe.1_Missense_Mutation_p.V374I|ACP2_uc009ylj.2_Missense_Mutation_p.V330I|ACP2_uc010rhf.1_Missense_Mutation_p.V370I|ACP2_uc010rhg.1_Missense_Mutation_p.V339I|ACP2_uc010rhh.1_Missense_Mutation_p.V215I	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1	402	Cytoplasmic (Potential).					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						CGGAAGAGGACGGTGAGGAGC	0.612		NA											9	40					0	0	0	0
NDUFS3	4722	broad.mit.edu	37	11	47600853	47600853	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:47600853G>A	uc001nga.2	+	2	182	c.100G>A	c.(100-102)GTG>ATG	p.V34M	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_5'Flank|KBTBD4_uc001nfx.2_5'Flank|KBTBD4_uc001nfz.2_5'Flank|KBTBD4_uc001nfy.2_5'Flank|NDUFS3_uc010rhn.1_Missense_Mutation_p.V34M	NM_004551	NP_004542	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3	34					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	GTTGCTGCCGGTGAGGCGGGA	0.667		NA											4	55					0	0	0	0
OR5D13	390142	broad.mit.edu	37	11	55540942	55540942	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:55540942G>C	uc010ril.1	+	1	29	c.29G>C	c.(28-30)AGC>ACC	p.S10T		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				AATCAAAGCAGCACACCCACT	0.383		NA											24	85					0	0	0	0
MS4A3	932	broad.mit.edu	37	11	59828723	59828723	+	Silent	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:59828723T>C	uc001nom.2	+	2	218	c.90T>C	c.(88-90)AAT>AAC	p.N30N	MS4A3_uc001non.2_Silent_p.N30N|MS4A3_uc001noo.2_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member	30	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)|skin(1)	3		all_epithelial(135;0.245)				AAGAGCTGAATACTTCTGTCT	0.478		NA											35	58					0	0	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136984	66136984	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:66136984G>A	uc001oht.2	-	3	360	c.131C>T	c.(130-132)GCC>GTC	p.A44V	SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Missense_Mutation_p.A44V|SLC29A2_uc001ohv.2_Missense_Mutation_p.A44V|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	44					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						GCCGGCCCCGGCCAGTCGCGC	0.547		NA											5	284					0	0	0	0
RBM4	5936	broad.mit.edu	37	11	66407477	66407477	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:66407477G>C	uc009yrj.2	+	2	783	c.295G>C	c.(295-297)GAG>CAG	p.E99Q	RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Missense_Mutation_p.E99Q|RBM4_uc001oiw.1_Missense_Mutation_p.E99Q|RBM4_uc001oix.1_Missense_Mutation_p.E99Q|RBM4_uc010rpj.1_Missense_Mutation_p.E99Q|RBM4_uc001oiy.1_Missense_Mutation_p.E99Q|RBM4_uc001oiz.1_Missense_Mutation_p.E99Q	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	99	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGCCAAGTTTGAGGAGTATGG	0.512		NA											57	164					0	0	0	0
NUDT8	254552	broad.mit.edu	37	11	67395432	67395432	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:67395432C>T	uc001omo.1	-	4	715	c.696G>A	c.(694-696)CTG>CTA	p.L232L	NUDT8_uc001omn.2_3'UTR	NM_181843	NP_862826	Q8WV74	NUDT8_HUMAN	nudix-type motif 8	232						mitochondrion	hydrolase activity|metal ion binding				0						GACCTTTATTCAGTCCTGGAG	0.642		NA											6	28					0	0	0	0
ORAOV1	220064	broad.mit.edu	37	11	69486560	69486560	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:69486560C>G	uc001opc.2	-	3	342	c.184G>C	c.(184-186)GCA>CCA	p.A62P	ORAOV1_uc010rqi.1_Missense_Mutation_p.A62P|ORAOV1_uc009ysm.2_Intron|ORAOV1_uc001opd.2_Intron|ORAOV1_uc001ope.1_Missense_Mutation_p.A62P	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	62											0	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CATTTCCATGCAAAAGCAAAA	0.368		NA											15	413					0	0	0	0
ANO1	55107	broad.mit.edu	37	11	70031712	70031712	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:70031712G>C	uc001opj.2	+	25	2910	c.2605G>C	c.(2605-2607)GAG>CAG	p.E869Q	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E578Q|ANO1_uc010rql.1_Missense_Mutation_p.E43Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	869	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						AGACTACCGAGAGCCGCCGTG	0.617		NA											15	220					0	0	0	0
MYO7A	4647	broad.mit.edu	37	11	76872097	76872097	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:76872097A>T	uc001oyb.2	+	12	1551	c.1279A>T	c.(1279-1281)AAG>TAG	p.K427*	MYO7A_uc010rsl.1_Nonsense_Mutation_p.K427*|MYO7A_uc010rsm.1_Nonsense_Mutation_p.K416*|MYO7A_uc001oyc.2_Nonsense_Mutation_p.K427*	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	427	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						CCAGGATGTGAAGAACTCTCG	0.542		NA											8	20					0	0	0	0
USP35	57558	broad.mit.edu	37	11	77911809	77911809	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:77911809C>T	uc009yva.1	+	6	1398	c.1152C>T	c.(1150-1152)TTC>TTT	p.F384F	USP35_uc001oze.2_Silent_p.F140F|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.F115F	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	384					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTTCCGGTTCCCGGGCTTCC	0.622		NA											5	26					0	0	0	0
VSIG2	23584	broad.mit.edu	37	11	124618357	124618357	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:124618357C>T	uc001qas.2	-	6	856	c.780G>A	c.(778-780)GCG>GCA	p.A260A	VSIG2_uc001qat.2_Silent_p.A260A	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	260	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCAGGCAGAACGCAGCAACTG	0.607		NA											33	48					0	0	0	0
KDM5A	5927	broad.mit.edu	37	12	463358	463358	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:463358C>T	uc001qif.1	-	8	1276	c.913G>A	c.(913-915)GAA>AAA	p.E305K	KDM5A_uc001qie.1_Missense_Mutation_p.E305K|KDM5A_uc010sdn.1_Missense_Mutation_p.E264K|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	305	PHD-type 1.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						AATTTATCTTCATTGTTTCCC	0.313		NA	T 	NUP98	AML								8	39					0	0	0	0
CD163L1	283316	broad.mit.edu	37	12	7522052	7522052	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:7522052G>A	uc001qsy.2	-	15	3966	c.3940C>T	c.(3940-3942)CGG>TGG	p.R1314W	CD163L1_uc010sge.1_Missense_Mutation_p.R1324W	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1314	SRCR 12.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CCTTTGCACCGCATGTCATCC	0.572		NA											4	93					0	0	0	0
BICD1	636	broad.mit.edu	37	12	32490488	32490488	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:32490488G>C	uc001rku.2	+	7	2389	c.2308G>C	c.(2308-2310)GAG>CAG	p.E770Q	BICD1_uc001rkv.2_Missense_Mutation_p.E770Q|BICD1_uc010skd.1_RNA|BICD1_uc001rkw.1_Missense_Mutation_p.E52Q	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	770	Potential.|Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCAGCTGCAGAGGATGAGAA	0.463		NA											10	39					0	0	0	0
RACGAP1	29127	broad.mit.edu	37	12	50388028	50388028	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:50388028G>C	uc001rvt.2	-	14	1535	c.1225C>G	c.(1225-1227)CTC>GTC	p.L409V	RACGAP1_uc009zlm.1_Missense_Mutation_p.L409V|RACGAP1_uc001rvs.2_Missense_Mutation_p.L409V|RACGAP1_uc001rvu.2_Missense_Mutation_p.L409V	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	409	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						ACTTTGCTGAGGAGGGGTACA	0.438		NA											26	91					0	0	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279041	51279041	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:51279041A>T	uc001rwx.3	+	4	712	c.665A>T	c.(664-666)AAT>ATT	p.N222I	TMPRSS12_uc001rwy.2_Missense_Mutation_p.N222I	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	222	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0						AACGCTACAAATATTTTACAA	0.328		NA											20	85					0	0	0	0
RARG	5916	broad.mit.edu	37	12	53605612	53605612	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:53605612G>C	uc001sce.2	-	10	1698	c.1213C>G	c.(1213-1215)CCA>GCA	p.P405A	RARG_uc001scd.2_Missense_Mutation_p.P394A|RARG_uc010sob.1_Missense_Mutation_p.P383A|RARG_uc001scf.2_Missense_Mutation_p.P405A|RARG_uc001scg.2_Missense_Mutation_p.P333A|RARG_uc010soc.1_Missense_Mutation_p.P284A	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	405	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATCGGGCCTGGAATCTCCATC	0.547		NA											19	61					0	0	0	0
SHMT2	6472	broad.mit.edu	37	12	57627425	57627425	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:57627425G>A	uc001snf.1	+	9	1113	c.1103G>A	c.(1102-1104)CGA>CAA	p.R368Q	SHMT2_uc001sng.1_Missense_Mutation_p.R264Q|SHMT2_uc001snh.1_Missense_Mutation_p.R207Q|SHMT2_uc009zpk.1_Missense_Mutation_p.R358Q|SHMT2_uc001sni.1_Missense_Mutation_p.R347Q|SHMT2_uc010srg.1_Missense_Mutation_p.R377Q|SHMT2_uc001snj.1_Missense_Mutation_p.R272Q|SHMT2_uc010srh.1_Missense_Mutation_p.R347Q|SHMT2_uc001snk.1_Missense_Mutation_p.R272Q|SHMT2_uc010sri.1_Missense_Mutation_p.R347Q|SHMT2_uc001snl.2_Missense_Mutation_p.R272Q|SHMT2_uc010srj.1_Missense_Mutation_p.R23Q	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	368						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGCTAGAGCGAGGCTACTCA	0.587		NA											7	34					0	0	0	0
PTPRB	5787	broad.mit.edu	37	12	70964817	70964817	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:70964817T>C	uc001swb.3	-	11	2735	c.2705A>G	c.(2704-2706)GAG>GGG	p.E902G	PTPRB_uc010sto.1_Missense_Mutation_p.E902G|PTPRB_uc010stp.1_Missense_Mutation_p.E812G|PTPRB_uc001swc.3_Missense_Mutation_p.E1120G|PTPRB_uc001swa.3_Missense_Mutation_p.E1032G|PTPRB_uc001swd.3_Missense_Mutation_p.E1119G|PTPRB_uc009zrr.1_Missense_Mutation_p.E999G	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	902	Fibronectin type-III 10.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTGAAGCCCTCAATGAAGGC	0.443		NA											3	44					0	0	0	0
BBS10	79738	broad.mit.edu	37	12	76740543	76740543	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:76740543C>T	uc001syd.1	-	2	1306	c.1222G>A	c.(1222-1224)GAA>AAA	p.E408K		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	408					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						TCATGTTGTTCAATGAGACCA	0.368		NA							Bardet-Biedl_syndrome				17	43					0	0	0	0
ANO4	121601	broad.mit.edu	37	12	101510524	101510524	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:101510524G>A	uc010svm.1	+	25	3090	c.2518G>A	c.(2518-2520)GAG>AAG	p.E840K	ANO4_uc001thw.2_Missense_Mutation_p.E805K|ANO4_uc001thx.2_Missense_Mutation_p.E840K|ANO4_uc001thy.2_Missense_Mutation_p.E360K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	840	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						GAACCGATCTGAGCCTGAATC	0.512		NA								HNSCC(74;0.22)			23	93					0	0	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526080	109526080	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:109526080G>T	uc001tnx.2	-	4	1110	c.717C>A	c.(715-717)CCC>CCA	p.P239P	ALKBH2_uc001tny.2_Silent_p.P239P|ALKBH2_uc010sxj.1_Silent_p.P239P|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN	AlkB homolog 2	239	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	TCTTTCTCACGGGAAGACTGT	0.483		NA						Direct_reversal_of_damage					4	138					0.00909568	0.00934107	1	0
CLIP1	6249	broad.mit.edu	37	12	122825752	122825752	+	Silent	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:122825752T>G	uc001ucg.1	-	10	2105	c.1999A>C	c.(1999-2001)AGA>CGA	p.R667R	CLIP1_uc001uch.1_Silent_p.R656R|CLIP1_uc001uci.1_Silent_p.R621R|CLIP1_uc001ucj.1_Silent_p.R357R|CLIP1_uc009zxo.1_Silent_p.R223R	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	667	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TAATCTAGTCTCATTTTCTCT	0.433		NA											35	119					0	0	0	0
GOLGA3	2802	broad.mit.edu	37	12	133363026	133363026	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:133363026G>A	uc001ukz.1	-	15	3581	c.3022C>T	c.(3022-3024)CGC>TGC	p.R1008C	GOLGA3_uc001ula.1_Missense_Mutation_p.R1008C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R1008C	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1008	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAGGCGGCGGCTGAGGATG	0.657		NA											9	13					0	0	0	0
PARP4	143	broad.mit.edu	37	13	25008562	25008562	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:25008562A>G	uc001upl.2	-	31	4823	c.4717T>C	c.(4717-4719)TGG>CGG	p.W1573R		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1573	Interaction with the major vault protein.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGTTCTGTCCAAGGCACAGCA	0.423		NA											14	60					0	0	0	0
B3GALTL	145173	broad.mit.edu	37	13	31821997	31821997	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:31821997C>G	uc010aaz.2	+	6	463	c.353C>G	c.(352-354)TCT>TGT	p.S118C		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	118	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GTCAGTTTTTCTGTAACATAT	0.338		NA											6	14					0	0	0	0
ZIC2	7546	broad.mit.edu	37	13	100635121	100635121	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:100635121A>G	uc001von.2	+	1	803	c.803A>G	c.(802-804)AAT>AGT	p.N268S		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	268	C2H2-type 1; atypical.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAACTGAGCAATCCCAAGAAG	0.532		NA											24	92					0	0	0	0
NEDD8	4738	broad.mit.edu	37	14	24686415	24686415	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:24686415G>C	uc001wnn.2	-	4	267	c.164C>G	c.(163-165)ACA>AGA	p.T55R	CHMP4A_uc001wnj.2_5'Flank|MDP1_uc001wnk.1_5'Flank|CHMP4A_uc001wnm.1_5'Flank|MDP1_uc001wnl.1_5'Flank|NEDD8_uc001wno.2_RNA	NM_006156	NP_006147	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally	55					anatomical structure morphogenesis|protein neddylation|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin protein ligase binding				0				GBM - Glioblastoma multiforme(265;0.0186)		ATCAGCTGCTGTCTTCTCATC	0.368		NA											14	30					0	0	0	0
MDGA2	161357	broad.mit.edu	37	14	47504314	47504314	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:47504314A>C	uc001wwj.3	-	8	1708	c.1512T>G	c.(1510-1512)AAT>AAG	p.N504K	MDGA2_uc001wwi.3_Missense_Mutation_p.N275K|MDGA2_uc010ani.2_Missense_Mutation_p.N64K	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	504	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CCCTAGATACATTCACAATCC	0.428		NA											23	122					0	0	0	0
SOS2	6655	broad.mit.edu	37	14	50597372	50597372	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:50597372C>T	uc001wxs.3	-	20	3282	c.3184G>A	c.(3184-3186)GAA>AAA	p.E1062K	SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.E1029K	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1062					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTACATGGTTCTCTTTCTAAT	0.438		NA											15	77					0	0	0	0
SOS2	6655	broad.mit.edu	37	14	50597378	50597378	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:50597378C>T	uc001wxs.3	-	20	3276	c.3178G>A	c.(3178-3180)GAA>AAA	p.E1060K	SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.E1027K	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1060					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTTCTCTTTCTAATGGTGTT	0.438		NA											16	74					0	0	0	0
C14orf50	145376	broad.mit.edu	37	14	65041274	65041274	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:65041274C>T	uc001xhl.1	+	8	731	c.635C>T	c.(634-636)GCC>GTC	p.A212V		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	212										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		CTGGGCTTGGCCGTGCCGGAT	0.438		NA											4	105					0	0	0	0
NRXN3	9369	broad.mit.edu	37	14	79175742	79175742	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:79175742G>T	uc001xun.2	+	4	776	c.285G>T	c.(283-285)ATG>ATT	p.M95I	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.M229I	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	468	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTAAACGTATGGGCTCCATCT	0.517		NA											16	73					6.32e-08	6.83e-08	1	0
DICER1	23405	broad.mit.edu	37	14	95596530	95596530	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:95596530C>T	uc001ydw.2	-	6	621	c.439_splice	c.e6-1	p.V147_splice	DICER1_uc001ydv.2_Splice_Site_p.V137_splice|DICER1_uc001ydx.2_Splice_Site_p.V147_splice	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAATGAGAACCTAAAATAAAA	0.333		NA	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				4	20					0	0	0	0
ATP10A	57194	broad.mit.edu	37	15	25924588	25924588	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:25924588G>A	uc010ayu.2	-	21	4506	c.4400C>T	c.(4399-4401)GCG>GTG	p.A1467V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1467	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCACGTCCCGCTTGTCCATC	0.567		NA											10	40					0	0	0	0
SERF2	10169	broad.mit.edu	37	15	44085227	44085227	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:44085227C>T	uc001zsz.3	+	2	160	c.62C>T	c.(61-63)TCG>TTG	p.S21L	ELL3_uc001zsx.1_Intron|SERF2_uc010bdq.2_Missense_Mutation_p.S21L|SERF2_uc010uee.1_5'UTR|C15orf63_uc001ztb.2_5'UTR	NM_001018108	NP_001018118	P84101	SERF2_HUMAN	small EDRK-rich factor 2	21						cytosol|nucleus					0		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGAGCGACTCGGTTAAGGGA	0.597		NA											6	24					0	0	0	0
SQRDL	58472	broad.mit.edu	37	15	45962152	45962152	+	Silent	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:45962152T>G	uc001zvt.2	+	5	621	c.432T>G	c.(430-432)GCT>GCG	p.A144A	SQRDL_uc001zvu.2_Silent_p.A144A|SQRDL_uc001zvv.2_Silent_p.A144A	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	sulfide dehydrogenase like precursor	144							oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TTATTATTGCTCTCGGAATCC	0.433		NA											27	156					0	0	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339164	79339164	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:79339164G>A	uc002beq.2	-	5	1177	c.802C>T	c.(802-804)CGC>TGC	p.R268C	RASGRF1_uc002bep.2_Missense_Mutation_p.R268C|RASGRF1_uc010blm.1_Missense_Mutation_p.R190C|RASGRF1_uc002ber.3_Missense_Mutation_p.R268C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	268	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						CGCAGCGGGCGCAGGAAATTG	0.587		NA											13	75					0	0	0	0
IL16	3603	broad.mit.edu	37	15	81598343	81598343	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:81598343G>A	uc002bgh.3	+	17	3891	c.3515G>A	c.(3514-3516)GGG>GAG	p.G1172E	IL16_uc010blq.1_Missense_Mutation_p.G1126E|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.G1214E|IL16_uc002bgg.2_Missense_Mutation_p.G1172E|IL16_uc002bgi.1_Missense_Mutation_p.G562E|IL16_uc002bgj.2_Missense_Mutation_p.G666E|IL16_uc002bgk.2_Missense_Mutation_p.G471E|IL16_uc002bgl.1_Missense_Mutation_p.G471E|IL16_uc010unq.1_Missense_Mutation_p.G471E	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1172	PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TCTCTCAAGGGGACCACGCAC	0.567		NA											38	152					0	0	0	0
SH3GL3	6457	broad.mit.edu	37	15	84241361	84241361	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:84241361G>A	uc002bjw.2	+	5	571	c.376G>A	c.(376-378)GAG>AAG	p.E126K	SH3GL3_uc010uot.1_Missense_Mutation_p.E126K|SH3GL3_uc002bjx.2_Missense_Mutation_p.E57K|SH3GL3_uc002bju.2_Missense_Mutation_p.E134K|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	126	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						GCTAATGGCTGAGGTGAAAGA	0.353		NA											10	54					0	0	0	0
CHSY1	22856	broad.mit.edu	37	15	101791398	101791398	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:101791398G>A	uc002bwt.1	-	2	747	c.264C>T	c.(262-264)TTC>TTT	p.F88F		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	88	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGACTCCCACGAAGAGAAAGT	0.572		NA											5	8					0	0	0	0
USP7	7874	broad.mit.edu	37	16	8989591	8989591	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:8989591C>G	uc002czl.2	-	27	3026	c.2827G>C	c.(2827-2829)GAA>CAA	p.E943Q	USP7_uc010uyk.1_Missense_Mutation_p.E844Q|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.E844Q|USP7_uc002czk.2_Missense_Mutation_p.E927Q	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	943					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CTTACAATTTCTAGCAGCCTG	0.333		NA											17	24					0	0	0	0
IGSF6	10261	broad.mit.edu	37	16	21654396	21654396	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:21654396G>A	uc002djg.1	-	5	718	c.665C>T	c.(664-666)TCT>TTT	p.S222F	uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	NM_005849	NP_005840	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6 precursor	222	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0				GBM - Glioblastoma multiforme(48;0.066)		TACACTTACAGATTGCTGATT	0.338		NA											44	62					0	0	0	0
ZNF423	23090	broad.mit.edu	37	16	49764853	49764853	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:49764853G>C	uc002efs.2	-	4	404	c.106C>G	c.(106-108)CAG>GAG	p.Q36E		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	36					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CTGGTTTTCTGATCGCACTCT	0.498		NA											45	181					0	0	0	0
SALL1	6299	broad.mit.edu	37	16	51172806	51172806	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:51172806C>T	uc010vgs.1	-	2	3358	c.3327G>A	c.(3325-3327)CCG>CCA	p.P1109P	SALL1_uc010vgr.1_Silent_p.P1012P|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1109					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGCCCAGACGGGACGTGAC	0.562		NA											19	33					0	0	0	0
CNGB1	1258	broad.mit.edu	37	16	57953078	57953078	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:57953078C>T	uc002emt.2	-	20	1947	c.1882G>A	c.(1882-1884)GAC>AAC	p.D628N	CNGB1_uc010cdh.2_Missense_Mutation_p.D622N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	628	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CAGAGCATGTCGCAATAGTGC	0.577		NA											19	37					0	0	0	0
CES2	8824	broad.mit.edu	37	16	66975486	66975486	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:66975486C>G	uc002eqr.2	+	7	2185	c.1185C>G	c.(1183-1185)GAC>GAG	p.D395E	CES2_uc002eqq.2_Missense_Mutation_p.D395E|CES2_uc002eqs.2_Missense_Mutation_p.D238E	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	331					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCTCTGCCGACTTTCAGCCTG	0.592		NA											11	34					0	0	0	0
AP1G1	164	broad.mit.edu	37	16	71823366	71823366	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:71823366C>G	uc010cgg.2	-	2	331	c.17G>C	c.(16-18)AGA>ACA	p.R6T	AP1G1_uc002fba.2_Missense_Mutation_p.R6T|AP1G1_uc002fbb.2_Missense_Mutation_p.R29T|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Missense_Mutation_p.R88T	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	6					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				CTCCCGCAATCTGATGGGGGC	0.438		NA											15	66					0	0	0	0
DHODH	1723	broad.mit.edu	37	16	72046112	72046112	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:72046112C>A	uc002fbp.2	+	2	206	c.185C>A	c.(184-186)ACC>AAC	p.T62N	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	62	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GTTCGCTTCACCTCCCTGGGG	0.567		NA											16	58					9.77e-05	0.000102125	1	0
ZFHX3	463	broad.mit.edu	37	16	72821072	72821072	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:72821072G>A	uc002fck.2	-	10	11776	c.11103C>T	c.(11101-11103)TTC>TTT	p.F3701F	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.F2787F	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3701					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTTACAATCTGAAGGTGTCCG	0.438		NA											46	172					0	0	0	0
MINK1	50488	broad.mit.edu	37	17	4799024	4799024	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:4799024G>T	uc010vsl.1	+	27	3457	c.3261G>T	c.(3259-3261)CTG>CTT	p.L1087L	MINK1_uc010vsk.1_Silent_p.L1058L|MINK1_uc010vsm.1_Silent_p.L1067L|MINK1_uc010vsn.1_Silent_p.L1050L|MINK1_uc010vso.1_Silent_p.L995L|MINK1_uc010vsp.1_Silent_p.L548L	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	1087	Mediates interaction with RAP2A.|CNH.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						TGTATTACCTGTCCTGGCTCC	0.602		NA											4	20					0.00024832	0.000258271	1	0
TEKT1	83659	broad.mit.edu	37	17	6722633	6722633	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722633C>T	uc002gdt.2	-	3	345	c.235G>A	c.(235-237)GAC>AAC	p.D79N	TEKT1_uc010vth.1_Intron	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	79	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				TCAAGTTTGTCATCTAACTCC	0.448		NA											10	36					0	0	0	0
TEKT1	83659	broad.mit.edu	37	17	6722667	6722667	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722667G>C	uc002gdt.2	-	3	311	c.201C>G	c.(199-201)CTC>CTG	p.L67L	TEKT1_uc010vth.1_Intron	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	67	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				GGACTTCCTCGAGTCTCTGTT	0.408		NA											8	24					0	0	0	0
TEKT1	83659	broad.mit.edu	37	17	6722673	6722673	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722673C>G	uc002gdt.2	-	3	305	c.195G>C	c.(193-195)CAG>CAC	p.Q65H	TEKT1_uc010vth.1_Intron	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	65	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				CCTCGAGTCTCTGTTCTGAAG	0.418		NA											5	24					0	0	0	0
YBX2	51087	broad.mit.edu	37	17	7192917	7192918	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7192917_7192918GG>AA	uc002gfq.2	-	7	1032_1033	c.975_976CC>TT	c.(973-978)TTCCAG>TTTTAG	p.Q326*		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	326	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding				0						CGTCTCCGCTGGAAGTAGGGGC	0.678		NA											10	36					0	0	0	0
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7193599G>A	uc002gfq.2	-	5	772	c.715C>T	c.(715-717)CGG>TGG	p.R239W		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	239	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding				0						TTGGGAGGCCGGGGGCCTCGC	0.622		NA											39	161					0	0	0	0
USP43	124739	broad.mit.edu	37	17	9631983	9631983	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:9631983C>G	uc010cod.2	+	15	3048	c.3048C>G	c.(3046-3048)GTC>GTG	p.V1016V	USP43_uc002gma.3_Silent_p.V705V|USP43_uc010vva.1_Silent_p.V1011V|USP43_uc010coe.2_Silent_p.V813V|USP43_uc002gmc.3_Silent_p.V528V	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	1016					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GGGCAGAGGTCTCTCCACAGG	0.642		NA											9	9					0	0	0	0
MYH13	8735	broad.mit.edu	37	17	10233795	10233795	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:10233795C>T	uc002gmk.1	-	21	2434	c.2344G>A	c.(2344-2346)GAT>AAT	p.D782N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	782	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						AGCTTCTCATCTCTCATCTCC	0.542		NA											7	20					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10359162	10359162	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:10359162C>G	uc002gmn.2	-	18	2136	c.2025G>C	c.(2023-2025)CGG>CGC	p.R675R	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	675	Myosin head-like.|Actin-binding (By similarity).				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						GGATGATGCACCGCACAAAGT	0.428		NA											26	113					0	0	0	0
MYOCD	93649	broad.mit.edu	37	17	12656440	12656440	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:12656440C>G	uc002gnn.2	+	10	2134	c.1835C>G	c.(1834-1836)GCT>GGT	p.A612G	MYOCD_uc002gno.2_Missense_Mutation_p.A612G|MYOCD_uc002gnp.1_Missense_Mutation_p.A516G|MYOCD_uc002gnq.2_Missense_Mutation_p.A331G	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	612					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTGGAAATGCTCATTGTGTG	0.512		NA											34	110					0	0	0	0
NEK8	284086	broad.mit.edu	37	17	27061083	27061083	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:27061083G>A	uc002hcp.2	+	2	130	c.130G>A	c.(130-132)GAG>AAG	p.E44K		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	44	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					GACCAAGGAAGAGCGGCAGGC	0.527		NA											11	57					0	0	0	0
GIT1	28964	broad.mit.edu	37	17	27903555	27903555	+	Silent	SNP	C	C	G	rs145208703		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:27903555C>G	uc002hef.2	-	13	1579	c.1365G>C	c.(1363-1365)CGG>CGC	p.R455R	GIT1_uc002heg.2_Silent_p.R464R|GIT1_uc010wbg.1_Silent_p.R464R|GIT1_uc010csb.1_Silent_p.R455R	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	455					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCTGCAGCCTCCGGAGCTCGT	0.622		NA											13	49					0	0	0	0
KCNH6	81033	broad.mit.edu	37	17	61623093	61623093	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:61623093G>C	uc002jay.2	+	14	2895	c.2815G>C	c.(2815-2817)GAG>CAG	p.E939Q	KCNH6_uc010wpl.1_Missense_Mutation_p.E780Q|KCNH6_uc010wpm.1_Missense_Mutation_p.E903Q|KCNH6_uc002jaz.1_Missense_Mutation_p.E850Q	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	939	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GGAACAGCCTGAGGGGCTCTG	0.582		NA											17	69					0	0	0	0
EVPL	2125	broad.mit.edu	37	17	74003878	74003878	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:74003878G>A	uc002jqi.2	-	22	5636	c.5408C>T	c.(5407-5409)TCC>TTC	p.S1803F	EVPL_uc010wss.1_Missense_Mutation_p.S1825F|EVPL_uc010wst.1_Missense_Mutation_p.S1273F	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1803	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GGGGGCCGGGGAGGCGAGCGG	0.602		NA											23	64					0	0	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60052041	60052041	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr18:60052041T>A	uc002lin.2	+	10	1663	c.1625T>A	c.(1624-1626)TTC>TAC	p.F542Y	TNFRSF11A_uc010dpv.2_Missense_Mutation_p.F225Y	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	542	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				GTGATGAACTTCAAGGGCGAC	0.642		NA							Paget_Disease_of_Bone				3	19					0	0	0	0
C19orf29	58509	broad.mit.edu	37	19	3613204	3613204	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:3613204C>G	uc002lyh.2	-	9	1691	c.1638G>C	c.(1636-1638)CTG>CTC	p.L546L	C19orf29_uc010xho.1_Silent_p.L5L|C19orf29_uc010dtn.2_Silent_p.L394L|C19orf29_uc002lyi.3_Silent_p.L546L|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	546						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTGGATCAGGTCCTCCT	0.726		NA											11	32					0	0	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657648	8657648	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:8657648C>T	uc002mkj.1	-	13	1860	c.1586G>A	c.(1585-1587)GGG>GAG	p.G529E	ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G161E	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	529	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GGCGCTCACCCCCTTGTCGAT	0.682		NA											5	20					0	0	0	0
OR7D2	162998	broad.mit.edu	37	19	9296835	9296835	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:9296835C>G	uc002mkz.1	+	1	566	c.378C>G	c.(376-378)GTC>GTG	p.V126V		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	126	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TTGTGGCTGTCTGCCACCCTC	0.512		NA											43	152					0	0	0	0
DNM2	1785	broad.mit.edu	37	19	10883279	10883279	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:10883279C>G	uc002mps.1	+	3	524	c.360C>G	c.(358-360)ATC>ATG	p.I120M	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.I120M|DNM2_uc002mpv.1_Missense_Mutation_p.I120M|DNM2_uc002mpu.1_Missense_Mutation_p.I120M|DNM2_uc010dxl.1_Missense_Mutation_p.I120M	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	120					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAGTGCCCATCAACCTTCGAG	0.552		NA											11	40					0	0	0	0
FAM125A	93343	broad.mit.edu	37	19	17534558	17534558	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:17534558T>A	uc002ngo.1	+	6	623	c.590T>A	c.(589-591)CTG>CAG	p.L197Q	FAM125A_uc002ngp.1_Missense_Mutation_p.L105Q|FAM125A_uc002ngq.1_Missense_Mutation_p.L93Q	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	family with sequence similarity 125, member A	197	Interaction with TSG101, VPS37B and VPS28.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding				0						GCATCCACTCTGCGGAGGAAT	0.602		NA											13	58					0	0	0	0
GDF15	9518	broad.mit.edu	37	19	18499466	18499466	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:18499466C>T	uc002niv.2	+	2	680	c.648C>T	c.(646-648)GTC>GTT	p.V216V		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	216					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						TGCACACGGTCCGCGCGTCGC	0.731		NA									OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	16					0	0	0	0
CHST8	64377	broad.mit.edu	37	19	34263838	34263838	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:34263838G>A	uc002nus.3	+	5	1650	c.1145G>A	c.(1144-1146)CGG>CAG	p.R382Q	CHST8_uc002nut.3_Missense_Mutation_p.R382Q|CHST8_uc002nuu.2_Missense_Mutation_p.R382Q	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	382	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					CAGGAGGCGCGGACCACAGCG	0.612		NA											5	30					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	38997014	38997014	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:38997014G>T	uc002oit.2	+	55	8743	c.8613G>T	c.(8611-8613)CTG>CTT	p.L2871L	RYR1_uc002oiu.2_Silent_p.L2871L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2871	6 X approximate repeats.|Cytoplasmic.|6.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGGGAGCTGCAGGTGAGAG	0.592		NA											7	30					0.00198382	0.0020521	1	0
PAF1	54623	broad.mit.edu	37	19	39879407	39879407	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:39879407C>G	uc002old.2	-	9	910	c.735G>C	c.(733-735)ATG>ATC	p.M245I	PAF1_uc002ole.1_Missense_Mutation_p.M235I|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	245					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTACCTAATCATGGCCTGAG	0.547		NA											14	34					0	0	0	0
PAF1	54623	broad.mit.edu	37	19	39879807	39879807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:39879807C>A	uc002old.2	-	7	668	c.493G>T	c.(493-495)GAG>TAG	p.E165*	PAF1_uc002ole.1_Nonsense_Mutation_p.E155*|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	165					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATTTCTTCCTCGGTAAACTGC	0.473		NA											27	85					4.23e-11	4.64e-11	1	0
AKT2	208	broad.mit.edu	37	19	40741810	40741810	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:40741810C>T	uc002onf.2	-	11	1424	c.1162G>A	c.(1162-1164)GAC>AAC	p.D388N	AKT2_uc010egs.2_Missense_Mutation_p.D345N|AKT2_uc010egt.2_Missense_Mutation_p.D326N|AKT2_uc010xvj.1_Missense_Mutation_p.D326N|AKT2_uc010egu.1_Missense_Mutation_p.D326N|AKT2_uc002one.2_Missense_Mutation_p.D284N	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	388	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			TGCTTGGGGTCCTTCTTAAGC	0.682		NA	A		ovarian|pancreatic 								3	22					0	0	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895566	45895566	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:45895566C>G	uc002pbn.2	-	8	1464	c.1387G>C	c.(1387-1389)GAG>CAG	p.E463Q	PPP1R13L_uc002pbm.2_Missense_Mutation_p.E42Q|PPP1R13L_uc002pbo.2_Missense_Mutation_p.E463Q	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	463	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATCTCCGGCTCAGGCTCCAGC	0.642		NA											6	35					0	0	0	0
SULT2A1	6822	broad.mit.edu	37	19	48389471	48389471	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:48389471G>A	uc002phr.2	-	1	184	c.44C>T	c.(43-45)ACT>ATT	p.T15I		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GAAACCCATAGTAGGGAAAGC	0.443		NA											6	124					0	0	0	0
FLT3LG	2323	broad.mit.edu	37	19	49979010	49979010	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:49979010C>G	uc010yau.1	+	3	186	c.96C>G	c.(94-96)TTC>TTG	p.F32L	FLT3LG_uc002pnv.2_5'UTR|FLT3LG_uc002pnw.2_5'UTR|FLT3LG_uc002pnu.2_Missense_Mutation_p.F32L|FLT3LG_uc002pnx.2_Missense_Mutation_p.F32L|FLT3LG_uc010yav.1_5'UTR	NM_001459	NP_001450	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand precursor	32	Extracellular (Potential).				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACTGCTCCTTCCAACACAGCC	0.642		NA											13	41					0	0	0	0
ZNF610	162963	broad.mit.edu	37	19	52869339	52869339	+	Silent	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:52869339A>G	uc002pyx.3	+	6	1114	c.708A>G	c.(706-708)GAA>GAG	p.E236E	ZNF610_uc002pyy.3_Silent_p.E236E|ZNF610_uc002pyz.3_Silent_p.E193E|ZNF610_uc002pza.2_Silent_p.E236E	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	236	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AATGTACTGAATGTGGCAAGG	0.388		NA											10	31					0	0	0	0
ZNF321	399669	broad.mit.edu	37	19	53432295	53432295	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:53432295G>C	uc010eqj.2	-	4	685	c.515C>G	c.(514-516)TCC>TGC	p.S172C	ZNF321_uc002qaj.1_Missense_Mutation_p.S119C|ZNF321_uc002qak.1_Missense_Mutation_p.S172C	NM_203307	NP_976052			zinc finger protein 321												0				GBM - Glioblastoma multiforme(134;0.0305)		CAAAATTAAGGAGGCATTGAT	0.378		NA											25	105					0	0	0	0
NLRP8	126205	broad.mit.edu	37	19	56466905	56466905	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:56466905G>A	uc002qmh.2	+	3	1552	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	NLRP8_uc010etg.2_Missense_Mutation_p.R494Q	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	494	NACHT.					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)		AGTATTCTTCGGAGAATTGCA	0.468		NA											30	107					0	0	0	0
ZNF550	162972	broad.mit.edu	37	19	58067717	58067717	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:58067717C>T	uc002qpe.1	-	1	9	c.9G>A	c.(7-9)GTG>GTA	p.V3V	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_3'UTR|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTGAAGGTCACCAACATCT	0.522		NA											22	108					0	0	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560208	10560208	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:10560208G>A	uc002raj.2	+	3	699	c.325G>A	c.(325-327)GAC>AAC	p.D109N	HPCAL1_uc002rak.2_Missense_Mutation_p.D109N|HPCAL1_uc002ral.2_Missense_Mutation_p.D109N|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.D109N	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	109	EF-hand 3.|2 (Potential).						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CAGCATGTACGACCTGGACGG	0.667		NA											13	46					0	0	0	0
BIRC6	57448	broad.mit.edu	37	2	32733227	32733227	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:32733227C>G	uc010ezu.2	+	51	10015	c.9881C>G	c.(9880-9882)TCA>TGA	p.S3294*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3294					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTAGGCCTTTCACAAATTAAA	0.438		NA											4	36					0	0	0	0
HEATR5B	54497	broad.mit.edu	37	2	37227876	37227876	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:37227876G>C	uc002rpp.1	-	33	5494	c.5398C>G	c.(5398-5400)CAG>GAG	p.Q1800E	HEATR5B_uc002rpo.1_Missense_Mutation_p.Q113E|HEATR5B_uc010ezy.1_Missense_Mutation_p.Q295E	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1800							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GGAGGAACCTGATTATCTGCA	0.408		NA											21	54					0	0	0	0
CEBPZ	10153	broad.mit.edu	37	2	37443509	37443509	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:37443509C>G	uc002rpz.2	-	7	2291	c.2261G>C	c.(2260-2262)AGA>ACA	p.R754T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	754					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				ATCCAAAAATCTCATTAGAGT	0.338		NA											26	85					0	0	0	0
KCNG3	170850	broad.mit.edu	37	2	42671137	42671137	+	Silent	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:42671137A>G	uc002rsn.2	-	2	1844	c.1248T>C	c.(1246-1248)TAT>TAC	p.Y416Y	KCNG3_uc002rsm.2_Silent_p.Y405Y	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	416	Cytoplasmic (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						TGAGCTCATGATAACACTGCA	0.388		NA											16	61					0	0	0	0
CD8A	925	broad.mit.edu	37	2	87013059	87013059	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:87013059G>A	uc002srt.2	-	6	1581	c.692C>T	c.(691-693)TCG>TTG	p.S231L	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.S231L|CD8A_uc010ytn.1_Missense_Mutation_p.S272L|CD8A_uc002sru.2_Missense_Mutation_p.S194L	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	231	Cytoplasmic (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						GTATCTCGCCGAAAGGCTGGG	0.512		NA											40	132					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141356336	141356336	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:141356336T>A	uc002tvj.1	-	43	8030	c.7058A>T	c.(7057-7059)AAT>ATT	p.N2353I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2353	Extracellular (Potential).|LDL-receptor class B 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTTGAGCATTTTTCCCAGT	0.368		NA								TSP Lung(27;0.18)			9	31					0	0	0	0
NMI	9111	broad.mit.edu	37	2	152135393	152135393	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:152135393G>A	uc002txi.2	-	4	619	c.289C>T	c.(289-291)CCT>TCT	p.P97S	NMI_uc010zbx.1_Missense_Mutation_p.P97S|NMI_uc002txj.2_Missense_Mutation_p.P65S	NM_004688	NP_004679	Q13287	NMI_HUMAN	N-myc and STAT interactor	97					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity				0				BRCA - Breast invasive adenocarcinoma(221;0.0571)		ATCTCATAAGGAACTTTCGAG	0.343		NA											5	26					0	0	0	0
IFIH1	64135	broad.mit.edu	37	2	163167287	163167287	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:163167287C>G	uc002uce.2	-	2	832	c.610G>C	c.(610-612)GAA>CAA	p.E204Q	IFIH1_uc002ucf.2_Missense_Mutation_p.E204Q	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	204					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						GCATTGCTTTCTGAGCAATCA	0.373		NA											12	24					0	0	0	0
WIPF1	7456	broad.mit.edu	37	2	175446073	175446073	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:175446073G>A	uc002uiy.2	-	4	478	c.146C>T	c.(145-147)ACG>ATG	p.T49M	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T49M|WIPF1_uc010fqt.1_Missense_Mutation_p.T49M|WIPF1_uc002ujc.1_Missense_Mutation_p.T49M|WIPF1_uc002uiz.2_Missense_Mutation_p.T49M|WIPF1_uc002ujb.1_Missense_Mutation_p.T49M|WIPF1_uc010zep.1_Missense_Mutation_p.T49M	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	49	WH2.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						ATTGGTGACCGTCTTCTTTAG	0.433		NA											65	238					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179418418	179418418	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:179418418C>G	uc010zfg.1	-	283	81834	c.81610G>C	c.(81610-81612)GAG>CAG	p.E27204Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E20899Q|TTN_uc010zfi.1_Missense_Mutation_p.E20832Q|TTN_uc010zfj.1_Missense_Mutation_p.E20707Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28131							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)			TGTCTTATCTCGACAACATAC	0.463		NA											11	62					0	0	0	0
ITGA4	3676	broad.mit.edu	37	2	182347350	182347350	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:182347350G>T	uc002unu.2	+	9	1776	c.1013G>T	c.(1012-1014)AGA>ATA	p.R338I	ITGA4_uc010zfl.1_Missense_Mutation_p.R338I	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	338	FG-GAP 5.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAGGAAGGAAGAGTGTTTGTG	0.473		NA											34	130					1.36e-07	1.47e-07	1	0
SPEG	10290	broad.mit.edu	37	2	220334043	220334043	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:220334043C>T	uc010fwg.2	+	13	3657	c.3657C>T	c.(3655-3657)ATC>ATT	p.I1219I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1219	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCCCACCATCAGCTGGTTCC	0.642		NA											4	23					0	0	0	0
SPEG	10290	broad.mit.edu	37	2	220336980	220336980	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:220336980G>A	uc010fwg.2	+	15	3867	c.3867G>A	c.(3865-3867)CCG>CCA	p.P1289P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1289	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGGCGCCCCGCAGGTGGTGG	0.647		NA											12	62					0	0	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526661	234526661	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:234526661G>A	uc002vup.2	+	1	371	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	UGT1A8_uc010zmv.1_Missense_Mutation_p.R103Q	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN	UDP glycosyltransferase 1 family, polypeptide A8	103					drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding			ovary(2)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCACAAGTACGAAGTTTGTTT	0.383		NA											35	94					0	0	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949874	235949874	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:235949874G>A	uc002vvp.2	+	4	854	c.461G>A	c.(460-462)AGA>AAA	p.R154K	SH3BP4_uc010fym.2_Missense_Mutation_p.R154K|SH3BP4_uc002vvq.2_Missense_Mutation_p.R154K	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	154					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GTACCAGGCAGAATGTACAGT	0.512		NA											16	68					0	0	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463486	241463486	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:241463486G>C	uc002vyz.1	-	7	1610	c.1381C>G	c.(1381-1383)CTG>GTG	p.L461V	ANKMY1_uc002vza.1_Missense_Mutation_p.L320V|ANKMY1_uc010fzd.1_Missense_Mutation_p.L550V|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.L320V|ANKMY1_uc002vzd.1_Missense_Mutation_p.L320V|ANKMY1_uc010fze.1_Missense_Mutation_p.L130V|ANKMY1_uc002vze.2_Missense_Mutation_p.L222V	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	461							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCACTGCACAGACTGCCCCGG	0.597		NA											16	69					0	0	0	0
KIF1A	547	broad.mit.edu	37	2	241702193	241702193	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:241702193T>A	uc002vzy.2	-	22	2178	c.2032A>T	c.(2032-2034)ATG>TTG	p.M678L	KIF1A_uc010fzk.2_Missense_Mutation_p.M687L|KIF1A_uc002vzz.1_Missense_Mutation_p.M687L	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	678	Potential.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGGAGTCCATCTGCTTCTGC	0.622		NA											3	10					0	0	0	0
ZNF343	79175	broad.mit.edu	37	20	2464844	2464844	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr20:2464844T>C	uc002wge.1	-	6	1251	c.763A>G	c.(763-765)AAC>GAC	p.N255D	ZNF343_uc010gao.1_Missense_Mutation_p.N255D|ZNF343_uc002wgd.1_Missense_Mutation_p.N165D	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GTAATAAAGTTTGATTCCAGG	0.438		NA											7	90					0	0	0	0
ITSN1	6453	broad.mit.edu	37	21	35190747	35190747	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr21:35190747C>G	uc002yta.1	+	23	3172	c.2904C>G	c.(2902-2904)CTC>CTG	p.L968L	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.L963L|ITSN1_uc010gmg.2_Silent_p.L926L|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Silent_p.L968L|ITSN1_uc010gmi.2_Silent_p.L931L|ITSN1_uc010gmj.2_Silent_p.L847L|ITSN1_uc002ysy.2_Silent_p.L963L|ITSN1_uc002ysx.2_Silent_p.L926L|ITSN1_uc002ytb.1_Silent_p.L963L|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.L931L|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Silent_p.L963L|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.L902L|ITSN1_uc002ytg.1_Silent_p.L21L	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	968	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						ACGTGAAACTCATTTCAGGGC	0.393		NA											57	79					0	0	0	0
RGL4	266747	broad.mit.edu	37	22	24035973	24035973	+	Missense_Mutation	SNP	G	G	A	rs145276888		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:24035973G>A	uc002zxn.2	+	4	1894	c.724G>A	c.(724-726)GAA>AAA	p.E242K	LOC91316_uc002zxh.3_5'Flank|LOC91316_uc002zxi.3_5'Flank|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.E242K|RGL4_uc002zxp.1_Missense_Mutation_p.E106K|RGL4_uc002zxq.2_Missense_Mutation_p.E106K	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation	242	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1						GGTGCTCCACGAATGCTTGGG	0.582		NA											10	47					0	0	0	0
MYO18B	84700	broad.mit.edu	37	22	26343789	26343789	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:26343789G>C	uc003abz.1	+	36	5993	c.5743G>C	c.(5743-5745)GCT>CCT	p.A1915P	MYO18B_uc003aca.1_Missense_Mutation_p.A1796P|MYO18B_uc010guy.1_Missense_Mutation_p.A1797P|MYO18B_uc010guz.1_Missense_Mutation_p.A1795P|MYO18B_uc011aka.1_Missense_Mutation_p.A1069P|MYO18B_uc011akb.1_Missense_Mutation_p.A1428P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1915	Tail.|Potential.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGACCTCATTGCTCAGGTAGT	0.537		NA											7	19					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131322	38131322	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:38131322C>G	uc003atr.2	+	9	5250	c.4979C>G	c.(4978-4980)ACC>AGC	p.T1660S	TRIOBP_uc003atu.2_Missense_Mutation_p.T1488S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1660					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCTGCCTGCACCTCCACCCAG	0.677		NA									OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	28					0	0	0	0
CELSR1	9620	broad.mit.edu	37	22	46785346	46785346	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:46785346C>T	uc003bhw.1	-	18	6396	c.6396G>A	c.(6394-6396)CTG>CTA	p.L2132L	CELSR1_uc011arc.1_Silent_p.L453L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2132	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACCAGCTGCAGGGCCCTGG	0.637		NA											9	36					0	0	0	0
MAPK11	5600	broad.mit.edu	37	22	50703900	50703900	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:50703900G>A	uc003bkr.2	-	11	923	c.865C>T	c.(865-867)CTG>TTG	p.L289L	MAPK11_uc010hax.2_Silent_p.L111L|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA	NM_002751	NP_002742	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	289	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			lung(1)|breast(1)	2		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCAGCACCAGCATCCTTCCA	0.637		NA											4	52					0	0	0	0
SBF1	6305	broad.mit.edu	37	22	50886980	50886980	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:50886980C>G	uc003blh.2	-	37	5338	c.5143G>C	c.(5143-5145)GAC>CAC	p.D1715H	SBF1_uc003ble.2_Missense_Mutation_p.D179H|SBF1_uc003blf.2_Missense_Mutation_p.D191H|SBF1_uc011arx.1_Missense_Mutation_p.D1353H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1689					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACACGGCCGTCTGGCCGGCCC	0.657		NA											4	31					0	0	0	0
RAF1	5894	broad.mit.edu	37	3	12626379	12626379	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:12626379C>T	uc003bxf.3	-	16	2185	c.1770G>A	c.(1768-1770)AAG>AAA	p.K590K	RAF1_uc011aut.1_Silent_p.K375K|RAF1_uc011auu.1_Silent_p.K508K	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	590	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	CCTTTACTTTCTTCACACAGT	0.463		NA	T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				24	71					0	0	0	0
NUP210	23225	broad.mit.edu	37	3	13368824	13368824	+	Missense_Mutation	SNP	G	G	A	rs147955019	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:13368824G>A	uc003bxv.1	-	32	4483	c.4400C>T	c.(4399-4401)TCG>TTG	p.S1467L		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1467	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CATGAAGTCCGAGAGGCCCGG	0.652		NA											7	26					0	0	0	0
ZNF860	344787	broad.mit.edu	37	3	32030581	32030581	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:32030581G>A	uc011axg.1	+	2	559	c.10G>A	c.(10-12)GAG>AAG	p.E4K		NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CATGTTACGTGAGGAAGCAGC	0.408		NA											14	72					0	0	0	0
CSPG5	10675	broad.mit.edu	37	3	47618627	47618627	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47618627C>T	uc003crp.3	-	2	1065	c.889G>A	c.(889-891)GAA>AAA	p.E297K	CSPG5_uc003crn.2_Missense_Mutation_p.E159K|CSPG5_uc003cro.3_Missense_Mutation_p.E297K|CSPG5_uc011bbb.1_Missense_Mutation_p.E159K	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	297	Interaction with TNC and TNR (By similarity).|Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCTCATTTTCATCTTCTAGG	0.413		NA											7	25					0	0	0	0
CSPG5	10675	broad.mit.edu	37	3	47618876	47618876	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47618876C>T	uc003crp.3	-	2	816	c.640G>A	c.(640-642)GAA>AAA	p.E214K	CSPG5_uc003crn.2_Missense_Mutation_p.E76K|CSPG5_uc003cro.3_Missense_Mutation_p.E214K|CSPG5_uc011bbb.1_Missense_Mutation_p.E76K	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	214	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCAGTCCTTCGAAGTAGTCG	0.592		NA											13	41					0	0	0	0
DHX30	22907	broad.mit.edu	37	3	47889747	47889747	+	Silent	SNP	C	C	T	rs147501030		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47889747C>T	uc003cru.2	+	15	2790	c.2364C>T	c.(2362-2364)TCC>TCT	p.S788S	DHX30_uc003crt.2_Silent_p.S749S|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	788	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		gcTGCCAGTCCGGCTTTGCCT	0.502		NA											12	38					0	0	0	0
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:49412905C>G	uc003cwu.2	-	2	394	c.118G>C	c.(118-120)GAG>CAG	p.E40Q	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	40	Effector region (Potential).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438		NA											39	135					0	0	0	0
STAB1	23166	broad.mit.edu	37	3	52539121	52539121	+	Silent	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:52539121C>A	uc003dej.2	+	13	1554	c.1480C>A	c.(1480-1482)CGG>AGG	p.R494R	STAB1_uc003dei.1_Silent_p.R494R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	494	Extracellular (Potential).|FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACTGGCCTGCGGTGGCAGGC	0.597		NA											23	94					9.04e-07	9.65e-07	1	0
FAM116A	201627	broad.mit.edu	37	3	57619070	57619070	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:57619070C>G	uc003dja.2	-	15	1346	c.1275G>C	c.(1273-1275)CAG>CAC	p.Q425H		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	425										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		AAGGACGTTTCTGTTGTACAC	0.299		NA											16	53					0	0	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526789	64526789	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:64526789T>C	uc003dmg.2	-	36	5535	c.5503A>G	c.(5503-5505)ACC>GCC	p.T1835A	ADAMTS9_uc011bfo.1_Missense_Mutation_p.T1807A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.T746A	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1835	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCATGCTGGTCAGGTCTATT	0.493		NA											18	52					0	0	0	0
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs139785185		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:65425588C>T	uc003dmn.2	-	9	1762	c.1236G>A	c.(1234-1236)CAG>CAA	p.Q412Q	MAGI1_uc003dmm.2_Silent_p.Q412Q|MAGI1_uc003dmo.2_Silent_p.Q412Q|MAGI1_uc003dmp.2_Silent_p.Q412Q|MAGI1_uc010hny.2_Silent_p.Q297Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	412	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.343		NA									OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	93					0	0	0	0
SLC9A10	285335	broad.mit.edu	37	3	111886130	111886130	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:111886130A>T	uc003dyu.2	-	26	3524	c.3302T>A	c.(3301-3303)TTC>TAC	p.F1101Y	SLC9A10_uc011bhu.1_Missense_Mutation_p.F364Y|SLC9A10_uc010hqc.2_Missense_Mutation_p.F1053Y	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	1101					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						ATTCCTTCTGAATGTTTTCAT	0.303		NA											4	22					0	0	0	0
UMPS	7372	broad.mit.edu	37	3	124462850	124462850	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:124462850C>T	uc003ehl.3	+	6	1468	c.1362C>T	c.(1360-1362)ATC>ATT	p.I454I	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.I276I|UMPS_uc011bkb.1_Silent_p.I362I|UMPS_uc011bkc.1_Silent_p.I276I|UMPS_uc003ehn.3_Silent_p.I276I|UMPS_uc011bkd.1_Silent_p.I179I	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	454	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		GTGGCATAATCTCAGCAGCTG	0.433		NA											12	22					0	0	0	0
MUC13	56667	broad.mit.edu	37	3	124641076	124641076	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:124641076A>G	uc003ehq.1	-	4	733	c.709T>C	c.(709-711)TAT>CAT	p.Y237H		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, epithelial transmembrane	237	SEA.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0						AAGTCTTGATAGGCCATGGAA	0.373		NA											7	36					0	0	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452474	130452474	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:130452474G>C	uc003enj.2	-	4	1949	c.1368C>G	c.(1366-1368)ATC>ATG	p.I456M		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	456					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						GATAAATATTGATATCATTAC	0.448		NA											12	40					0	0	0	0
IGSF10	285313	broad.mit.edu	37	3	151155070	151155070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:151155070C>A	uc011bod.1	-	6	7279	c.7279G>T	c.(7279-7281)GAA>TAA	p.E2427*	IGSF10_uc011bob.1_Nonsense_Mutation_p.E454*|IGSF10_uc011boc.1_Nonsense_Mutation_p.E406*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2427	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGCCAATTTCTAATATGACT	0.403		NA											15	76					3.27e-08	3.55e-08	1	0
MME	4311	broad.mit.edu	37	3	154832894	154832894	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:154832894G>A	uc010hvr.1	+	4	519	c.308G>A	c.(307-309)CGT>CAT	p.R103H	MME_uc003fab.1_Missense_Mutation_p.R103H|MME_uc003fac.1_Missense_Mutation_p.R103H|MME_uc003fad.1_Missense_Mutation_p.R103H|MME_uc003fae.1_Missense_Mutation_p.R103H	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	103	Extracellular (Potential).	Substrate carboxyl (By similarity).			cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R103L(1)		ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACCAGCTCCCGTTACGGCAAC	0.413		NA											20	83					0	0	0	0
SEC62	7095	broad.mit.edu	37	3	169703609	169703609	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:169703609A>G	uc003fgg.2	+	6	597	c.566A>G	c.(565-567)TAT>TGT	p.Y189C	SEC62_uc003fgh.2_Missense_Mutation_p.Y189C	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	189	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						GTATGGATCTATGACCCAGTT	0.308		NA											12	48					0	0	0	0
MUC4	4585	broad.mit.edu	37	3	195501148	195501148	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:195501148G>A	uc011bto.1	-	5	13048	c.12588C>T	c.(12586-12588)GGC>GGT	p.G4196G	MUC4_uc003fuz.2_Missense_Mutation_p.A4V|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Silent_p.G65G|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Silent_p.G65G|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Silent_p.G88G|MUC4_uc003fvp.2_Silent_p.G37G|MUC4_uc010hzu.1_Silent_p.G936G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1081					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTCCCCGGCGCCTGCCCCAT	0.627		NA											26	32					0	0	0	0
PACRGL	133015	broad.mit.edu	37	4	20711361	20711361	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:20711361C>G	uc010iek.2	+	5	722	c.331C>G	c.(331-333)CTT>GTT	p.L111V	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.L159V|PACRGL_uc003gpz.2_Missense_Mutation_p.L111V|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.L111V|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	111							binding				0						TCCTGAAAGTCTTTCATTTGA	0.289		NA											16	82					0	0	0	0
PCDH7	5099	broad.mit.edu	37	4	30724333	30724333	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:30724333C>T	uc003gsk.1	+	1	2297	c.1289C>T	c.(1288-1290)GCC>GTC	p.A430V	PCDH7_uc011bxw.1_Missense_Mutation_p.A383V|PCDH7_uc011bxx.1_Missense_Mutation_p.A430V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	430	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GACGGGGTGGCCAACGTGGCC	0.617		NA											3	24					0	0	0	0
EPHA5	2044	broad.mit.edu	37	4	66197845	66197845	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:66197845C>T	uc003hcy.2	-	17	3047	c.2854G>A	c.(2854-2856)GTA>ATA	p.V952I	EPHA5_uc003hcx.2_Missense_Mutation_p.V884I|EPHA5_uc003hcz.2_Missense_Mutation_p.V930I|EPHA5_uc011cah.1_Missense_Mutation_p.V953I|EPHA5_uc011cai.1_Missense_Mutation_p.V931I|EPHA5_uc003hda.2_Missense_Mutation_p.V953I	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	952	Cytoplasmic (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						AAATTAGATACTCTAAAACAC	0.333		NA								TSP Lung(17;0.13)			3	24					0	0	0	0
CXCL2	2920	broad.mit.edu	37	4	74964583	74964583	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:74964583G>A	uc003hhm.3	-	2	317	c.157C>T	c.(157-159)CAC>TAC	p.H53Y		NM_002089	NP_002080	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	53					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity				0	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			TTCTTGAGGTGAATTCCCTGC	0.617		NA											31	142					0	0	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415749	88415749	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:88415749G>A	uc010ikm.2	-	5	775	c.203C>T	c.(202-204)GCT>GTT	p.A68V	SPARCL1_uc011cdc.1_Intron|SPARCL1_uc003hqs.3_Missense_Mutation_p.A68V|SPARCL1_uc011cdd.1_5'UTR|SPARCL1_uc003hqt.2_Missense_Mutation_p.A68V	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	68					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGATTTTTCAGCCTTAAAAGA	0.338		NA											3	36					0	0	0	0
COL25A1	84570	broad.mit.edu	37	4	109783686	109783686	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:109783686A>C	uc003hze.1	-	21	1699	c.1168T>G	c.(1168-1170)TCA>GCA	p.S390A	COL25A1_uc003hzg.2_Missense_Mutation_p.S390A|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Intron	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	390	Extracellular (Potential).|Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTAGTTCCTGATTCACCTTGT	0.373		NA											110	221					0	0	0	0
CCNA2	890	broad.mit.edu	37	4	122740557	122740557	+	Silent	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:122740557A>T	uc003iec.3	-	5	1277	c.972T>A	c.(970-972)CCT>CCA	p.P324P		NM_001237	NP_001228	P20248	CCNA2_HUMAN	cyclin A	324					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			ovary(1)	1						TGCAGTTTGCAGGCTGCTGAT	0.373		NA											3	52					0	0	0	0
CLGN	1047	broad.mit.edu	37	4	141320051	141320051	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:141320051C>T	uc011chi.1	-	9	1056	c.838G>A	c.(838-840)GAA>AAA	p.E280K	CLGN_uc003iii.2_Missense_Mutation_p.E280K	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	280	Lumenal (Potential).|1-1.				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					TTTGCTCTTTCATCCCATTCC	0.358		NA											29	190					0	0	0	0
TRIM2	23321	broad.mit.edu	37	4	154197120	154197120	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:154197120C>T	uc003ing.2	+	3	411	c.210C>T	c.(208-210)CCC>CCT	p.P70P	TRIM2_uc003inh.2_Silent_p.P97P|TRIM2_uc003ini.1_Silent_p.P88P	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	70						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCATCCTGCCCGAGAAAGGGG	0.577		NA											13	68					0	0	0	0
HAND2	9464	broad.mit.edu	37	4	174449933	174449933	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:174449933C>T	uc003ith.1	-	1	1446	c.508G>A	c.(508-510)GAG>AAG	p.E170K	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.R135K|HAND2_uc010ire.1_Missense_Mutation_p.E170K	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	170					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCTTGATCTCTGCCTTGAAG	0.612		NA											9	34					0	0	0	0
CDH6	1004	broad.mit.edu	37	5	31297509	31297509	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:31297509G>A	uc003jhe.1	+	4	963	c.637G>A	c.(637-639)GAA>AAA	p.E213K	CDH6_uc003jhd.1_Missense_Mutation_p.E213K	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	213	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						AGTTGAATCAGAAACAGGTTA	0.348		NA											10	46					0	0	0	0
PTGER4	5734	broad.mit.edu	37	5	40681496	40681496	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:40681496G>C	uc003jlz.2	+	2	993	c.401G>C	c.(400-402)CGA>CCA	p.R134P		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	134	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						GTGGACAAGCGATTGGCGGGC	0.587		NA									OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	127					0	0	0	0
C5orf34	375444	broad.mit.edu	37	5	43503812	43503812	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:43503812T>G	uc003jnz.1	-	6	1300	c.983A>C	c.(982-984)TAT>TCT	p.Y328S		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	328										breast(1)	1	Lung NSC(6;2.07e-05)					TAGTTCAGGATAGGAATATTC	0.353		NA											26	112					0	0	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589592	67589592	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:67589592A>G	uc003jva.2	+	11	1915	c.1355A>G	c.(1354-1356)TAT>TGT	p.Y452C	PIK3R1_uc003jvb.2_Missense_Mutation_p.Y452C|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y152C|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y182C|PIK3R1_uc003jve.2_Missense_Mutation_p.Y131C|PIK3R1_uc011crb.1_Missense_Mutation_p.Y122C	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	452					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(2)|p.G446_Y452>VI(1)|p.E451_Y452del(1)|p.?(1)|p.Y452_Q455>SGGSRIK(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTACATGAATATAACACTCAG	0.279		NA	Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			19	45					0	0	0	0
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:88057031C>T	uc003kjj.2	-	4	1046	c.373G>A	c.(373-375)GAT>AAT	p.D125N	MEF2C_uc003kji.2_Missense_Mutation_p.D125N|MEF2C_uc003kjk.2_Missense_Mutation_p.D125N|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Intron	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453		NA								HNSCC(66;0.2)			28	92					0	0	0	0
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:150512081C>T	uc003ltl.1	-	10	844	c.692G>A	c.(691-693)CGA>CAA	p.R231Q	ANXA6_uc011dcp.1_Missense_Mutation_p.R199Q|ANXA6_uc003ltm.1_Missense_Mutation_p.R231Q|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	231	Annexin 3.					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R231Q(1)			0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552		NA											7	15					0	0	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313378	1313378	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:1313378G>A	uc003mtl.3	+	1	704	c.439G>A	c.(439-441)GAG>AAG	p.E147K		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	147	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGAGATCAACGAGTACCTCAT	0.637		NA											8	38					0	0	0	0
CCDC90A	63933	broad.mit.edu	37	6	13792146	13792146	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:13792146C>G	uc003nbd.2	-	8	1116	c.988G>C	c.(988-990)GAG>CAG	p.E330Q	uc003nbc.1_5'Flank|CCDC90A_uc010jpf.2_RNA	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	coiled-coil domain containing 90A precursor	330						integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				TTGTGTGACTCAAGCATGGTT	0.363		NA											14	59					0	0	0	0
EHMT2	10919	broad.mit.edu	37	6	31855970	31855970	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:31855970G>C	uc003nxz.1	-	13	1603	c.1593C>G	c.(1591-1593)GTC>GTG	p.V531V	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.V322V|EHMT2_uc011don.1_Silent_p.V554V|EHMT2_uc003nya.1_Silent_p.V497V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	531					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GGGGACAGAAGACCATCCCAT	0.642		NA											25	36					0	0	0	0
SIM1	6492	broad.mit.edu	37	6	100841664	100841664	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:100841664G>A	uc003pqj.3	-	10	1476	c.1269C>T	c.(1267-1269)GCC>GCT	p.A423A	SIM1_uc010kcu.2_Silent_p.A423A	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	423	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAGGCCTATCGGCGGGGTCCA	0.597		NA											26	36					0	0	0	0
FYN	2534	broad.mit.edu	37	6	112017481	112017481	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:112017481T>A	uc003pvj.2	-	9	1381	c.1041A>T	c.(1039-1041)AAA>AAT	p.K347N	FYN_uc003pvi.2_Missense_Mutation_p.K292N|FYN_uc003pvk.2_Missense_Mutation_p.K347N|FYN_uc003pvh.2_Missense_Mutation_p.K344N|FYN_uc010kdy.1_Intron	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	347	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTGCCCAACCTTTGTTCATAT	0.488		NA											37	77					0	0	0	0
MED23	9439	broad.mit.edu	37	6	131917142	131917142	+	Silent	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:131917142T>C	uc003qcs.1	-	22	3114	c.2940A>G	c.(2938-2940)GTA>GTG	p.V980V	MED23_uc003qcq.2_Silent_p.V986V|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Silent_p.V621V	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	980					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTGATTTGGATACCGGAAGCA	0.378		NA											3	123					0	0	0	0
MMD2	221938	broad.mit.edu	37	7	4947088	4947088	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:4947088T>C	uc003sno.3	-	7	948	c.752A>G	c.(751-753)TAC>TGC	p.Y251C	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.Y227C|MMD2_uc010ksq.2_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	251	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GATGGCATAGTAGTGGGTACC	0.537		NA											11	100					0	0	0	0
WIPF3	644150	broad.mit.edu	37	7	29918639	29918639	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:29918639A>T	uc003taj.1	+	3	238	c.238A>T	c.(238-240)AAC>TAC	p.N80Y		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	80										ovary(1)	1						TAAAGGAACCAACAAAGAAGG	0.517		NA											4	15					0	0	0	0
TARP	445347	broad.mit.edu	37	7	38299801	38299801	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:38299801G>C	uc003tge.1	-	7	1213	c.836C>G	c.(835-837)TCT>TGT	p.S279C	uc003tfx.1_5'Flank|uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.S75C|TARP_uc003tgc.1_Missense_Mutation_p.S75C|TARP_uc003tgd.1_Missense_Mutation_p.S75C			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0						GTAATATGCAGAGGTGTTTGT	0.423		NA											9	58					0	0	0	0
ZNF713	349075	broad.mit.edu	37	7	55980391	55980391	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:55980391A>T	uc003trc.1	+	1	61	c.23A>T	c.(22-24)GAT>GTT	p.D8V	ZNF713_uc003tra.1_Missense_Mutation_p.D21V|MRPS17_uc003trb.2_Missense_Mutation_p.D8V	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAATGAATGATGGCTCACAG	0.408		NA											15	18					0	0	0	0
CLIP2	7461	broad.mit.edu	37	7	73771712	73771712	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:73771712G>A	uc003uam.2	+	6	1447	c.1120G>A	c.(1120-1122)GAA>AAA	p.E374K	CLIP2_uc003uan.2_Missense_Mutation_p.E374K	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	374	Potential.					microtubule associated complex				skin(3)	3						GCTGCTGGCTGAACGAGACCT	0.612		NA											5	17					0	0	0	0
KLHDC10	23008	broad.mit.edu	37	7	129756398	129756398	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:129756398G>A	uc003vpj.1	+	3	502	c.367G>A	c.(367-369)GAA>AAA	p.E123K	KLHDC10_uc003vpk.1_Missense_Mutation_p.E94K|KLHDC10_uc010lmb.1_Intron	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	123	Kelch 1.										0						GCCTGATAATGAAGACTATCC	0.478		NA											17	117					0	0	0	0
MKLN1	4289	broad.mit.edu	37	7	131012684	131012684	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:131012684C>G	uc011kpm.1	+	1	90	c.26C>G	c.(25-27)GCG>GGG	p.A9G	MKLN1_uc011kpl.1_Intron|MKLN1_uc010lmh.2_Missense_Mutation_p.A9G|MKLN1_uc003vqs.2_5'UTR|uc003vqr.1_5'Flank	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	9					signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					GCTGTCGCTGCGGCGCCCGAG	0.682		NA											7	27					0	0	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764670	138764670	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:138764670G>C	uc003vun.2	-	4	1405	c.1017C>G	c.(1015-1017)CTC>CTG	p.L339L	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.L339L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	339					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						TTCCATGCAAGAGGTCCTCTT	0.552		NA											24	113					0	0	0	0
JHDM1D	80853	broad.mit.edu	37	7	139833366	139833366	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:139833366T>A	uc003vvm.2	-	3	375	c.371A>T	c.(370-372)AAG>ATG	p.K124M		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	124					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					GCGTAATTCCTTAATGAAAGT	0.368		NA											11	63					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:141795497C>T	uc003vwy.2	+	41	4957	c.4903C>T	c.(4903-4905)CGG>TGG	p.R1635W		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1635	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.468		NA											71	159					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147674977	147674977	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:147674977C>T	uc003weu.1	+	15	2795	c.2279C>T	c.(2278-2280)TCA>TTA	p.S760L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	760	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTTTCTTATCATACAAAGAT	0.473		NA								HNSCC(39;0.1)			29	67					0	0	0	0
C8orf22	492307	broad.mit.edu	37	8	49986796	49986796	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:49986796T>C	uc003xqq.3	+	4	320	c.137T>C	c.(136-138)TTG>TCG	p.L46S		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	hypothetical protein LOC492307	46											0		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTAATAGGGTTGCCTGAAGTG	0.333		NA											6	96					0	0	0	0
RGS20	8601	broad.mit.edu	37	8	54866744	54866744	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:54866744C>A	uc003xrp.2	+	5	944	c.852C>A	c.(850-852)TTC>TTA	p.F284L	RGS20_uc003xrq.2_Missense_Mutation_p.F169L|RGS20_uc010lye.2_Missense_Mutation_p.F76L|RGS20_uc010lyf.2_Missense_Mutation_p.F48L|RGS20_uc003xrs.2_Missense_Mutation_p.F137L|RGS20_uc003xrt.2_Missense_Mutation_p.F18L	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	284	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAACAGAATTCAGTGAGGAAA	0.413		NA											17	99					2e-07	2.14e-07	1	0
PMP2	5375	broad.mit.edu	37	8	82357103	82357103	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:82357103G>C	uc003ycb.1	-	2	293	c.195C>G	c.(193-195)TTC>TTG	p.F65L	PMP2_uc010lzv.1_Intron	NM_002677	NP_002668	P02689	MYP2_HUMAN	peripheral myelin protein 2	65						cytoplasm	cholesterol binding|fatty acid binding|transporter activity				0			Epithelial(68;0.186)			GGCCTAGCTTGAAGGAGATTT	0.393		NA											17	101					0	0	0	0
NBN	4683	broad.mit.edu	37	8	90955524	90955524	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:90955524C>T	uc003yej.1	-	14	2251	c.2141G>A	c.(2140-2142)CGA>CAA	p.R714Q	NBN_uc003yei.1_Missense_Mutation_p.R632Q|NBN_uc011lgb.1_Missense_Mutation_p.R714Q	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	714					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGTATTCTTTCGAGCATGATG	0.398		NA						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				22	167					0	0	0	0
KCNS2	3788	broad.mit.edu	37	8	99441238	99441238	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:99441238C>T	uc003yin.2	+	2	1381	c.1031C>T	c.(1030-1032)TCC>TTC	p.S344F		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	344	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCCATCTTCTCCGTGGTGGCC	0.582		NA											16	91					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121222028	121222028	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:121222028A>G	uc003yox.2	+	12	1620	c.1355A>G	c.(1354-1356)TAC>TGC	p.Y452C	COL14A1_uc003yoy.2_Missense_Mutation_p.Y130C|COL14A1_uc010mde.1_Missense_Mutation_p.Y130C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	452	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTTCTACTGTACGACGTGACT	0.453		NA											4	124					0	0	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810426	124810426	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:124810426C>G	uc003yqv.2	+	16	1569	c.1508C>G	c.(1507-1509)TCC>TGC	p.S503C	FAM91A1_uc011lik.1_Missense_Mutation_p.S503C|FAM91A1_uc011lil.1_Missense_Mutation_p.S261C	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	503										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCTTGTTTCCATGGCTCCC	0.493		NA											15	179					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144992659	144992659	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:144992659T>A	uc003zaf.1	-	32	11911	c.11741A>T	c.(11740-11742)GAG>GTG	p.E3914V	PLEC_uc003zab.1_Missense_Mutation_p.E3777V|PLEC_uc003zac.1_Missense_Mutation_p.E3781V|PLEC_uc003zad.2_Missense_Mutation_p.E3777V|PLEC_uc003zae.1_Missense_Mutation_p.E3745V|PLEC_uc003zag.1_Missense_Mutation_p.E3755V|PLEC_uc003zah.2_Missense_Mutation_p.E3763V|PLEC_uc003zaj.2_Missense_Mutation_p.E3804V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3914	Globular 2.|Plectin 19.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GATGGTCTGCTCGGTGTAGGG	0.682		NA											4	16					0	0	0	0
MPDZ	8777	broad.mit.edu	37	9	13223589	13223589	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:13223589C>T	uc010mia.1	-	4	571	c.514G>A	c.(514-516)GAG>AAG	p.E172K	MPDZ_uc010mhy.2_Missense_Mutation_p.E172K|MPDZ_uc010mhz.2_Missense_Mutation_p.E172K|MPDZ_uc011lmn.1_Missense_Mutation_p.E172K|MPDZ_uc003zlb.3_Missense_Mutation_p.E172K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	172	PDZ 1.				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)		ACACTGCCCTCTTGTATCTCT	0.448		NA											8	48					0	0	0	0
IFNA8	3445	broad.mit.edu	37	9	21409439	21409439	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:21409439C>G	uc003zpc.1	+	1	294	c.264C>G	c.(262-264)TTC>TTG	p.F88L		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	88					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AGCAGACCTTCAACCTCTTCA	0.473		NA											29	143					0	0	0	0
RG9MTD3	158234	broad.mit.edu	37	9	37776359	37776359	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:37776359G>C	uc004aai.2	+	8	878	c.801G>C	c.(799-801)CAG>CAC	p.Q267H	RG9MTD3_uc011lqo.1_Missense_Mutation_p.Q216H|RG9MTD3_uc011lqp.1_Missense_Mutation_p.Q189H|RG9MTD3_uc011lqq.1_Missense_Mutation_p.Q156H|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.Q172H	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain	267							methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		TCAGAAACCAGAATGGGAAAA	0.448		NA											12	18					0	0	0	0
IARS	3376	broad.mit.edu	37	9	95014160	95014160	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:95014160T>C	uc004art.1	-	22	2494	c.2237A>G	c.(2236-2238)AAT>AGT	p.N746S	IARS_uc004ars.1_Missense_Mutation_p.N591S|IARS_uc004aru.3_Missense_Mutation_p.N746S|IARS_uc010mqr.2_Missense_Mutation_p.N636S|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	746					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CTCCATCCCATTTTCACCCTA	0.328		NA											9	46					0	0	0	0
SUSD1	64420	broad.mit.edu	37	9	114820851	114820851	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:114820851C>T	uc004bfu.2	-	14	2007	c.1966G>A	c.(1966-1968)GAA>AAA	p.E656K	SUSD1_uc010mui.2_Missense_Mutation_p.E656K|SUSD1_uc010muj.2_Missense_Mutation_p.E656K	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	656	Extracellular (Potential).					integral to membrane	calcium ion binding				0						GCCAGTAGTTCTGCAGCCACG	0.483		NA											30	110					0	0	0	0
SPTAN1	6709	broad.mit.edu	37	9	131394439	131394439	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:131394439C>G	uc004bvl.3	+	52	6894	c.6781C>G	c.(6781-6783)CAG>GAG	p.Q2261E	SPTAN1_uc004bvm.3_Missense_Mutation_p.Q2266E|SPTAN1_uc004bvn.3_Missense_Mutation_p.Q2241E|SPTAN1_uc004bvo.3_Missense_Mutation_p.Q28E|SPTAN1_uc004bvp.3_Missense_Mutation_p.Q4E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2261	Spectrin 23.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CATGAGAAGTCAGCTCAAAAA	0.637		NA											6	24					0	0	0	0
SPTAN1	6709	broad.mit.edu	37	9	131395123	131395123	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:131395123C>G	uc004bvl.3	+	55	7295	c.7182C>G	c.(7180-7182)TTC>TTG	p.F2394L	SPTAN1_uc004bvm.3_Missense_Mutation_p.F2399L|SPTAN1_uc004bvn.3_Missense_Mutation_p.F2374L|SPTAN1_uc004bvo.3_Missense_Mutation_p.F161L|SPTAN1_uc004bvp.3_Missense_Mutation_p.F137L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2394	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ACATGGCTTTCATGATCAGCC	0.597		NA											26	97					0	0	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799178	133799178	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:133799178C>T	uc004bzz.2	-	4	1047	c.802G>A	c.(802-804)GGC>AGC	p.G268S	FIBCD1_uc011mcc.1_Missense_Mutation_p.G268S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	268	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		ACCTGGAAGCCGGCCGGGTAG	0.697		NA											32	32					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413087	139413087	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:139413087T>A	uc004chz.2	-	6	1055	c.1055A>T	c.(1054-1056)GAC>GTC	p.D352V		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	352	Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).				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)		GGCCACACGGTCATGGCAGGT	0.647		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			8	8					0	0	0	0
SHROOM2	357	broad.mit.edu	37	X	9862972	9862972	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:9862972G>C	uc004csu.1	+	4	1114	c.1024G>C	c.(1024-1026)GAG>CAG	p.E342Q		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	342					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				TGTGTTCTCAGAGGCGGCTGC	0.657		NA											6	28					0	0	0	0
MAP3K15	389840	broad.mit.edu	37	X	19398256	19398256	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:19398256C>T	uc004czk.1	-	20	2633	c.996G>A	c.(994-996)CCG>CCA	p.P332P	MAP3K15_uc004czj.1_Silent_p.P292P	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	857	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					TGGCTGCCTGCGGCTCACCAA	0.448		NA											5	11					0	0	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269432	30269432	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:30269432G>A	uc004dcc.2	+	4	1142	c.822G>A	c.(820-822)CCG>CCA	p.P274P	MAGEB1_uc004dcd.2_Silent_p.P274P|MAGEB1_uc004dce.2_Silent_p.P274P	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE.										0						TATGGGGTCCGAGAGCCTATG	0.502		NA											19	90					0	0	0	0
DMD	1756	broad.mit.edu	37	X	31950313	31950313	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:31950313A>G	uc004dda.1	-	46	6890	c.6646T>C	c.(6646-6648)TTT>CTT	p.F2216L	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.F872L|DMD_uc004dcx.2_Missense_Mutation_p.F875L|DMD_uc004dcz.2_Missense_Mutation_p.F2093L|DMD_uc004dcy.1_Missense_Mutation_p.F2212L|DMD_uc004ddb.1_Missense_Mutation_p.F2208L|DMD_uc010ngo.1_Missense_Mutation_p.F125L|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2216	Spectrin 16.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTCTTTGAAATTCTGACAAG	0.303		NA											10	36					0	0	0	0
RPGR	6103	broad.mit.edu	37	X	38135929	38135929	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:38135929C>T	uc004deb.2	-	16	2170	c.2002G>A	c.(2002-2004)GAT>AAT	p.D668N	RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	NM_000328	NP_000319	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CTTTCATCATCTCCCACAGTT	0.358		NA											20	107					0	0	0	0
USP9X	8239	broad.mit.edu	37	X	40988323	40988323	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:40988323C>T	uc004dfb.2	+	3	800	c.167C>T	c.(166-168)GCC>GTC	p.A56V	USP9X_uc004dfc.2_Missense_Mutation_p.A56V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	56					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						CAAGGTGATGCCCCACCACAG	0.443		NA											3	43					0	0	0	0
PORCN	64840	broad.mit.edu	37	X	48370791	48370791	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:48370791T>A	uc010nie.1	+	5	609	c.451T>A	c.(451-453)TCG>ACG	p.S151T	PORCN_uc004djr.1_Missense_Mutation_p.S151T|PORCN_uc004djs.1_Missense_Mutation_p.S151T|PORCN_uc004djt.1_Missense_Mutation_p.S80T|PORCN_uc011mlx.1_Missense_Mutation_p.S80T|PORCN_uc004dju.1_Missense_Mutation_p.S20T|PORCN_uc004djv.1_Missense_Mutation_p.S151T|PORCN_uc004djw.1_Missense_Mutation_p.S151T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	151	Extracellular (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						TACGGTGCCCTCGCCAGTGGA	0.607		NA											4	34					0	0	0	0
ATRX	546	broad.mit.edu	37	X	76944323	76944323	+	Silent	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:76944323A>T	uc004ecp.3	-	7	814	c.582T>A	c.(580-582)GTT>GTA	p.V194V	ATRX_uc004ecq.3_Silent_p.V156V|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Silent_p.V155V|ATRX_uc010nlx.1_Silent_p.V194V|ATRX_uc010nly.1_Silent_p.V139V	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	194	ADD.|GATA-type; atypical.		V -> I (in ATRX).|Missing (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TACAAATAAGAACTTGCAATG	0.249		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						48	94					0	0	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005206	102005206	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:102005206T>A	uc010nog.2	+	4	1854	c.1283T>A	c.(1282-1284)ATA>AAA	p.I428K	BHLHB9_uc011mrq.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrr.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrs.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrt.1_Missense_Mutation_p.I428K|BHLHB9_uc004ejo.2_Missense_Mutation_p.I428K|BHLHB9_uc011mru.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrv.1_Missense_Mutation_p.I428K	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	428						cytoplasm|nucleus	binding			ovary(2)	2						GGATTAAAGATACTAGGACAA	0.373		NA											49	47					0	0	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048048	42048048	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:42048048delC	uc001cgz.3	-	4	3634	c.2421delG	c.(2419-2421)GAGfs	p.E807fs	HIVEP3_uc001cha.3_Frame_Shift_Del_p.E807fs|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	807	Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AATCAGATTTCTCAAAGGAGC	0.562		NA											61	56	---	---	---	---	NA	NA	NA	NA
PAPSS2	9060	broad.mit.edu	37	10	89472945	89472946	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:89472945_89472946delAG	uc001kex.2	+	3	522_523	c.259_260delAG	c.(259-261)AGAfs	p.R87fs	PAPSS2_uc001kew.2_Frame_Shift_Del_p.R87fs|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	87	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGGCCTTAACAGAAATCTCGGA	0.51		NA											20	114	---	---	---	---	NA	NA	NA	NA
DDX11	1663	broad.mit.edu	37	12	31255240	31255241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:31255240_31255241insT	uc001rjt.1	+	22	2517_2518	c.2266_2267insT	c.(2266-2268)ATCfs	p.I756fs	DDX11_uc001rjr.1_Frame_Shift_Ins_p.I756fs|DDX11_uc001rjs.1_Frame_Shift_Ins_p.I706fs|DDX11_uc001rju.1_Frame_Shift_Ins_p.I428fs|DDX11_uc001rjv.1_Frame_Shift_Ins_p.I756fs|DDX11_uc001rjw.1_Frame_Shift_Ins_p.I730fs|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	756					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCCAGGTGCATCCAGGTGCGG	0.559		NA								Multiple Myeloma(12;0.14)			21	91	---	---	---	---	NA	NA	NA	NA
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:55362674_55362676delGAG	uc002ehy.2	+	5	1317_1319	c.784_786delGAG	c.(784-786)GAGdel	p.E268del	IRX6_uc002ehx.2_In_Frame_Del_p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CCTggaggaagaggaggaggagg	0.493		NA											7	82	---	---	---	---	NA	NA	NA	NA
CNOT10	25904	broad.mit.edu	37	3	32758664	32758665	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:32758664_32758665insT	uc003cfc.1	+	7	934_935	c.679_680insT	c.(679-681)ATCfs	p.I227fs	CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfd.1_Frame_Shift_Ins_p.I226fs|CNOT10_uc003cfe.1_Frame_Shift_Ins_p.I227fs|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Frame_Shift_Ins_p.I287fs|CNOT10_uc010hfw.1_5'UTR	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	227					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						ACGAGCTTATATCCAAATGAAG	0.327		NA											15	72	---	---	---	---	NA	NA	NA	NA
POLR1C	9533	broad.mit.edu	37	6	43497022	43497022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:43497022delT	uc003ovo.1	+	9	1015	c.958delT	c.(958-960)TGTfs	p.C320fs	XPO5_uc003ovp.2_Intron	NM_004875	NP_004866	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 2	Error:Variant_position_missing_in_O15160_after_alignment					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ggctcacacctgtaatcccag	0.129		NA											9	26	---	---	---	---	NA	NA	NA	NA
PODXL	5420	broad.mit.edu	37	7	131189187	131189191	+	Frame_Shift_Del	DEL	AGAAG	AGAAG	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:131189187_131189191delAGAAG	uc003vqw.3	-	9	1814_1818	c.1556_1560delCTTCT	c.(1555-1560)TCTTCTfs	p.S519fs	PODXL_uc003vqx.3_Frame_Shift_Del_p.S487fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	519_520	Cytoplasmic (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					CCTGCATCTCAGAAGAGGTCTCCAT	0.576		NA											49	179	---	---	---	---	NA	NA	NA	NA
PLAG1	5324	broad.mit.edu	37	8	57080731	57080731	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:57080731delT	uc003xsq.3	-	2	549	c.98delA	c.(97-99)AACfs	p.N33fs	PLAG1_uc003xsr.3_Frame_Shift_Del_p.N33fs|PLAG1_uc010lyi.2_Frame_Shift_Del_p.N33fs|PLAG1_uc010lyj.2_Intron	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	33	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCAAGGAAAGTTTTTTCTTGG	0.453		NA	T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								17	95	---	---	---	---	NA	NA	NA	NA
ZNF618	114991	broad.mit.edu	37	9	116811467	116811476	+	Frame_Shift_Del	DEL	GCCGGCATGT	GCCGGCATGT	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:116811467_116811476delGCCGGCATGT	uc004bid.2	+	15	1984_1993	c.1885_1894delGCCGGCATGT	c.(1885-1896)GCCGGCATGTGCfs	p.A629fs	ZNF618_uc004bic.2_Frame_Shift_Del_p.A536fs|ZNF618_uc011lxi.1_Frame_Shift_Del_p.A596fs|ZNF618_uc011lxj.1_Frame_Shift_Del_p.A597fs|ZNF618_uc010mvb.2_Frame_Shift_Del_p.A219fs	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	629_632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTCTCCAAGGCCGGCATGTGCCTTCGCTG	0.624		NA											8	112	---	---	---	---	NA	NA	NA	NA
DGKK	139189	broad.mit.edu	37	X	50213559	50213570	+	In_Frame_Del	DEL	GGCGGAGCCGGT	GGCGGAGCCGGT	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:50213559_50213570delGGCGGAGCCGGT	uc010njr.1	-	1	168_179	c.108_119delACCGGCTCCGCC	c.(106-120)CCACCGGCTCCGCCG>CCG	p.36_40PPAPP>P		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	36_40					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					cggagccggcggcggagccggtggtggtggcg	0.462		NA											9	26	---	---	---	---	NA	NA	NA	NA
HUWE1	10075	broad.mit.edu	37	X	53563587	53563589	+	In_Frame_Del	DEL	CCA	CCA	-	rs426298	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:53563587_53563589delCCA	uc004dsp.2	-	79	12579_12581	c.12177_12179delTGG	c.(12175-12180)GGTGGG>GGG	p.4059_4060GG>G	HUWE1_uc004dsn.2_In_Frame_Del_p.2867_2868GG>G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4059_4060	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCGCAGGAGCCCACCAGCATCCT	0.473		NA											14	58	---	---	---	---	NA	NA	NA	NA
