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
GLTPD1	80772	broad.mit.edu	37	1	1262354	1262354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:1262354G>A	uc001aeo.2	+	2	479	c.64G>A	c.(64-66)GAT>AAT	p.D22N	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	22						cytoplasm	glycolipid binding|glycolipid transporter activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGTGTCTCGATGAGAAGGA	0.562		NA											17	71					0	0	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31837035	31837035	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:31837035G>C	uc001bsp.1	+	8	857	c.721G>C	c.(721-723)GAG>CAG	p.E241Q	ZCCHC17_uc001bsq.1_Missense_Mutation_p.E233Q|ZCCHC17_uc010ogf.1_Missense_Mutation_p.E243Q|ZCCHC17_uc009vtu.1_Missense_Mutation_p.E217Q|ZCCHC17_uc001bsr.1_Missense_Mutation_p.E241Q|ZCCHC17_uc009vtv.1_Missense_Mutation_p.E217Q	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	241						nucleolus	RNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		gaagcacaagGAGTGAGAGTA	0.383		NA											14	28					0	0	0	0
CSMD2	114784	broad.mit.edu	37	1	34082539	34082539	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:34082539G>C	uc001bxn.1	-	39	5892	c.5863C>G	c.(5863-5865)CGG>GGG	p.R1955G	CSMD2_uc001bxm.1_Missense_Mutation_p.R1995G|CSMD2_uc001bxo.1_Missense_Mutation_p.R868G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1955	Sushi 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCCATCGCCGCACTGTTCCG	0.527		NA											17	88					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39792914	39792914	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:39792914A>C	uc010ois.1	+	37	4723	c.4518A>C	c.(4516-4518)CAA>CAC	p.Q1506H	MACF1_uc001cda.1_Missense_Mutation_p.Q1414H|MACF1_uc001cdc.1_Missense_Mutation_p.Q593H|MACF1_uc001cdb.1_Missense_Mutation_p.Q593H	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGAAACAAATATCTGAGC	0.393		NA											8	19					0	0	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636551	43636551	+	Splice_Site	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:43636551C>T	uc001cin.2	-	4	521	c.324_splice	c.e4-1	p.F108_splice	EBNA1BP2_uc001cio.2_Splice_Site_p.F163_splice|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Splice_Site_p.F3_splice|EBNA1BP2_uc010ojx.1_Splice_Site_p.F163_splice	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2						ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGGCGATAGCTGAGAATCGT	0.512		NA											45	88					0	0	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342296	94342296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:94342296C>T	uc001dqf.2	-	2	1233	c.1195G>A	c.(1195-1197)GAT>AAT	p.D399N	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.D194N	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTCTTCATCATCACTACCA	0.403		NA											53	249					0	0	0	0
OVGP1	5016	broad.mit.edu	37	1	111969225	111969225	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:111969225C>A	uc001eba.2	-	3	150	c.94G>T	c.(94-96)GCA>TCA	p.A32S	OVGP1_uc001eaz.2_5'UTR|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.A22S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	32					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CGACTGTGTGCCCAGTTGGTG	0.532		NA											9	28					9.7e-10	1.23e-09	1	0
TRIM45	80263	broad.mit.edu	37	1	117663359	117663359	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:117663359G>A	uc001egz.2	-	1	1053	c.465C>T	c.(463-465)TGC>TGT	p.C155C	TRIM45_uc009whe.2_Silent_p.C155C|TRIM45_uc001eha.2_Silent_p.C51C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	155	B box-type 1.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGCAGAAGTGGCAGAGGTTGG	0.542		NA											22	72					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	T	rs144217264		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:152277569C>T	uc001ezu.1	-	3	9829	c.9793G>A	c.(9793-9795)GGG>AGG	p.G3265R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582		NA							Ichthyosis				219	333					0	0	0	0
C1orf182	128229	broad.mit.edu	37	1	156314481	156314481	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:156314481A>T	uc001foo.2	+	3	507	c.145A>T	c.(145-147)ACA>TCA	p.T49S	C1orf182_uc009wry.2_Missense_Mutation_p.T49S|C1orf182_uc001fop.3_Missense_Mutation_p.T49S	NM_144627	NP_653228	Q96A04	CA182_HUMAN	SSTK-interacting protein	49											0	Hepatocellular(266;0.158)					GAACATCCAGACAACAAAGCT	0.507		NA											20	131					0	0	0	0
TNN	63923	broad.mit.edu	37	1	175116091	175116091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:175116091G>A	uc001gkl.1	+	19	3897	c.3784G>A	c.(3784-3786)GGA>AGA	p.G1262R		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1262	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507		NA									OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	58					0	0	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626732	232626733	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:232626732_232626733GG>AT	uc001hvg.2	-	3	1851_1852	c.1693_1694CC>AT	c.(1693-1695)CCT>ATT	p.P565I		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	565					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTTTGAGAGGTAGTCCTCGT	0.47		NA											12	62					0	0	0	0
COL13A1	1305	broad.mit.edu	37	10	71677072	71677072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:71677072G>T	uc001jpr.1	+	17	1515	c.979G>T	c.(979-981)GGC>TGC	p.G327C	COL13A1_uc001jqj.1_Missense_Mutation_p.G327C|COL13A1_uc001jps.1_Missense_Mutation_p.G298C|COL13A1_uc001jpt.1_Missense_Mutation_p.G286C|COL13A1_uc001jpu.1_Missense_Mutation_p.G308C|COL13A1_uc001jpv.1_Missense_Mutation_p.G327C|COL13A1_uc001jpx.1_Missense_Mutation_p.G305C|COL13A1_uc001jpw.1_Missense_Mutation_p.G274C|COL13A1_uc001jpy.1_Missense_Mutation_p.G265C|COL13A1_uc001jpz.1_Missense_Mutation_p.G270C|COL13A1_uc001jqa.1_Missense_Mutation_p.G267C|COL13A1_uc001jqc.1_Missense_Mutation_p.G327C|COL13A1_uc001jqb.1_Missense_Mutation_p.G276C|COL13A1_uc001jql.2_Missense_Mutation_p.G327C|COL13A1_uc001jqd.1_Missense_Mutation_p.G315C|COL13A1_uc001jqe.1_Missense_Mutation_p.G310C|COL13A1_uc001jqf.1_Missense_Mutation_p.G308C|COL13A1_uc001jqg.1_Missense_Mutation_p.G305C|COL13A1_uc001jqh.1_Missense_Mutation_p.G327C|COL13A1_uc001jqi.1_Missense_Mutation_p.G327C|COL13A1_uc010qjf.1_Missense_Mutation_p.G117C|COL13A1_uc001jqk.1_Missense_Mutation_p.G165C	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	327	Extracellular (Potential).|Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGGATGCCAGGCAAGCATGG	0.632		NA											11	22					2.27e-07	2.77e-07	1	0
FAM178A	55719	broad.mit.edu	37	10	102706839	102706839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:102706839C>T	uc001krt.3	+	14	3520	c.2978C>T	c.(2977-2979)CCC>CTC	p.P993L	FAM178A_uc001krs.2_Missense_Mutation_p.P993L	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	993											0						TCCAGTCATCCCCACAACCTC	0.363		NA											26	85					0	0	0	0
PDZD7	79955	broad.mit.edu	37	10	102777943	102777943	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:102777943T>C	uc001kso.1	-	9	1650	c.1435A>G	c.(1435-1437)AGG>GGG	p.R479G	PDZD7_uc001ksn.2_Missense_Mutation_p.R479G	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	479						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGCGCTAGCCTCCCCTGCCGC	0.637		NA											21	60					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1264977	1264977	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:1264977C>T	uc009ycr.1	+	48	8907	c.8781C>T	c.(8779-8781)AGC>AGT	p.S2927S	MUC5B_uc001ltb.2_Silent_p.S2292S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2289	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.677		NA											22	95					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1268748	1268748	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:1268748C>T	uc009ycr.1	+	50	12348	c.12222C>T	c.(12220-12222)AGC>AGT	p.S4074S	MUC5B_uc001ltb.2_Silent_p.S3549S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3546	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.682		NA											5	187					0	0	0	0
TRIM5	85363	broad.mit.edu	37	11	5699621	5699621	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:5699621T>C	uc001mbm.1	-	4	814	c.557A>G	c.(556-558)GAG>GGG	p.E186G	TRIM5_uc001mbq.1_Missense_Mutation_p.E186G|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.E186G|TRIM5_uc001mbo.2_Missense_Mutation_p.E186G|TRIM5_uc001mbp.2_Missense_Mutation_p.E186G	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	186	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTCAGTTGCTCAAAATCTGC	0.468		NA											3	138					0	0	0	0
MS4A14	84689	broad.mit.edu	37	11	60183510	60183510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:60183510C>T	uc001npj.2	+	5	1634	c.1069C>T	c.(1069-1071)CCT>TCT	p.P357S	MS4A14_uc001npi.2_Missense_Mutation_p.P245S|MS4A14_uc001npn.2_Missense_Mutation_p.P95S|MS4A14_uc001npk.2_Missense_Mutation_p.P340S|MS4A14_uc001npl.2_Missense_Mutation_p.P95S|MS4A14_uc001npm.2_Missense_Mutation_p.P95S	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	357						integral to membrane	receptor activity			breast(1)	1						TGACCTGCCCCCTCAAGGcat	0.254		NA											13	27					0	0	0	0
CFL1	1072	broad.mit.edu	37	11	65623524	65623524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:65623524C>T	uc001ofs.2	-	2	427	c.193G>A	c.(193-195)GAC>AAC	p.D65N	CFL1_uc001oft.2_Missense_Mutation_p.D65N|CFL1_uc001ofu.2_3'UTR	NM_005507	NP_005498	P23528	COF1_HUMAN	cofilin 1 (non-muscle)	65	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding				0				READ - Rectum adenocarcinoma(159;0.169)		TAGGGGTCGTCGACAGTCTGG	0.562		NA											51	71					0	0	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454940	66454940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:66454940C>T	uc001ojd.2	-	34	6752	c.6680G>A	c.(6679-6681)CGC>CAC	p.R2227H	SPTBN2_uc001ojc.1_Missense_Mutation_p.A88T	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2227	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CTCCTGCTTGCGGCACAGCAT	0.642		NA											44	73					0	0	0	0
PPME1	51400	broad.mit.edu	37	11	73962725	73962725	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:73962725G>A	uc001ouw.2	+	13	1206	c.1107G>A	c.(1105-1107)CGG>CGA	p.R369R	PPME1_uc009yty.2_Silent_p.R253R|PPME1_uc001oux.2_Silent_p.R182R|P4HA3_uc001ouy.3_Intron	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	369					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0	Breast(11;3.29e-05)					TCCTGATCCGGCACAGGTTTG	0.522		NA											5	127					0	0	0	0
GRIA4	2893	broad.mit.edu	37	11	105758286	105758286	+	Silent	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:105758286C>A	uc001pix.2	+	6	1160	c.714C>A	c.(712-714)ATC>ATA	p.I238I	GRIA4_uc001piu.1_Silent_p.I238I|GRIA4_uc001piw.2_Silent_p.I238I|GRIA4_uc009yxk.1_Silent_p.I238I	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	238	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACCATTATATCATTGCAAACT	0.269		NA											6	61					0.000157383	0.000187078	1	0
OR8B12	219858	broad.mit.edu	37	11	124413461	124413461	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:124413461A>T	uc010sam.1	-	1	90	c.90T>A	c.(88-90)TTT>TTA	p.F30L		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|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;0.0213)		AGAAACCCAGAAACAGGAAGA	0.512		NA											22	72					0	0	0	0
OR6C4	341418	broad.mit.edu	37	12	55945874	55945874	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:55945874T>C	uc010spp.1	+	1	864	c.864T>C	c.(862-864)TAT>TAC	p.Y288Y		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTTCATATATACTTTAAGAA	0.333		NA											13	34					0	0	0	0
ACSS3	79611	broad.mit.edu	37	12	81472045	81472045	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:81472045G>A	uc001szl.1	+	1	237	c.146G>A	c.(145-147)CGG>CAG	p.R49Q	ACSS3_uc001szm.1_Missense_Mutation_p.R49Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	49						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CTCGGGGGCCGGGGATGCAGG	0.731		NA											12	14					0	0	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331319	133331319	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:133331319C>T	uc001ukx.2	-	2	649	c.582G>A	c.(580-582)AAG>AAA	p.K194K	ANKLE2_uc001uky.3_Silent_p.K132K	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	194						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGGGCGGCTCCTTAGACGCAG	0.567		NA											17	58					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39265893	39265893	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr13:39265893G>T	uc001uwv.2	+	1	4721	c.4412G>T	c.(4411-4413)TGC>TTC	p.C1471F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1471	Extracellular (Potential).|CSPG 10.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCTGGAATGCACGGATCAG	0.468		NA											13	39					0.00010058	0.000120466	1	0
TSC22D1	8848	broad.mit.edu	37	13	45149170	45149170	+	Silent	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr13:45149170A>G	uc001uzn.3	-	1	1532	c.1041T>C	c.(1039-1041)GCT>GCC	p.A347A	TSC22D1_uc001uzo.1_Silent_p.A347A	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	347					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACTCACACCAGCAGCACTAG	0.413		NA											17	53					0	0	0	0
CHD8	57680	broad.mit.edu	37	14	21897487	21897487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:21897487G>A	uc001was.1	-	3	108	c.14C>T	c.(13-15)TCG>TTG	p.S5L	CHD8_uc001war.1_5'UTR	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	284					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATGCGTTTCGATTCACCCTA	0.438		NA											12	38					0	0	0	0
EXD2	55218	broad.mit.edu	37	14	69697274	69697274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:69697274C>T	uc001xkt.2	+	6	960	c.301C>T	c.(301-303)CGT>TGT	p.R101C	EXD2_uc001xku.2_5'UTR|EXD2_uc001xkv.2_Missense_Mutation_p.R226C|EXD2_uc001xkw.2_Missense_Mutation_p.R101C|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Missense_Mutation_p.R226C|EXD2_uc010tte.1_Missense_Mutation_p.R226C|EXD2_uc001xky.2_Missense_Mutation_p.R101C	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	101	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CCTTCTACTTCGTTGCAGCAA	0.408		NA											16	81					0	0	0	0
COQ6	51004	broad.mit.edu	37	14	74426168	74426168	+	Silent	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:74426168A>C	uc001xph.2	+	8	914	c.834A>C	c.(832-834)GCA>GCC	p.A278A	ENTPD5_uc001xpi.2_3'UTR|COQ6_uc001xpe.2_Silent_p.A203A|COQ6_uc001xpf.2_Silent_p.A203A|COQ6_uc010tuk.1_Silent_p.A253A|COQ6_uc010tun.1_3'UTR|COQ6_uc001xpg.2_Silent_p.A278A	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	278					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ATGAACATGCAGCAGAGCTAG	0.483		NA											18	110					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24922410	24922410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr15:24922410C>T	uc001ywo.2	+	1	1870	c.1396C>T	c.(1396-1398)CCT>TCT	p.P466S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	466	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCTGGCTCTTCCTGCTGACCT	0.498		NA											44	158					0	0	0	0
TMEM62	80021	broad.mit.edu	37	15	43446919	43446919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr15:43446919G>C	uc001zqr.2	+	9	1351	c.1072G>C	c.(1072-1074)GAT>CAT	p.D358H	TMEM62_uc010bda.2_Missense_Mutation_p.D228H	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	358						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTTAAGATTGATGGAGTTCA	0.388		NA											4	33					0	0	0	0
ACSM5	54988	broad.mit.edu	37	16	20442600	20442600	+	Missense_Mutation	SNP	G	G	A	rs144464842	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:20442600G>A	uc002dhe.2	+	10	1412	c.1265G>A	c.(1264-1266)CGT>CAT	p.R422H		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						GTTGCCGTCCGTATCAGACCC	0.453		NA											36	214					0	0	0	0
SCNN1G	6340	broad.mit.edu	37	16	23221114	23221114	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:23221114A>G	uc002dlm.1	+	7	1260	c.1121A>G	c.(1120-1122)GAG>GGG	p.E374G		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	374	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAGTGCACGGAGGACGGGAGT	0.617		NA											9	76					0	0	0	0
C16orf53	79447	broad.mit.edu	37	16	29828566	29828566	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:29828566A>G	uc002dug.3	+	2	837	c.518A>G	c.(517-519)GAG>GGG	p.E173G	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	PTIP-associated 1 protein	173											0						TTTGATGATGAGCCAGTGACA	0.557		NA									OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	42					0	0	0	0
DPEP1	1800	broad.mit.edu	37	16	89702704	89702704	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:89702704G>A	uc010cin.2	+	4	473	c.270G>A	c.(268-270)CAG>CAA	p.Q90Q	DPEP1_uc002fnr.3_Silent_p.Q90Q|DPEP1_uc002fns.3_Silent_p.Q90Q	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	90					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCGACACCCAGAACAAAGACG	0.652		NA											9	24					0	0	0	0
SERPINF1	5176	broad.mit.edu	37	17	1675260	1675260	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:1675260A>T	uc002ftl.2	+	5	691	c.534A>T	c.(532-534)CAA>CAT	p.Q178H	SERPINF1_uc010cjw.2_Translation_Start_Site	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	178					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1						TGGACCTGCAAGAGATCAACA	0.552		NA											7	32					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:7577022G>A	uc002gim.2	-	8	1110	c.916C>T	c.(916-918)CGA>TGA	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	306	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			83	19					0	0	0	0
PFAS	5198	broad.mit.edu	37	17	8167249	8167249	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:8167249C>T	uc002gkr.2	+	15	1927	c.1786C>T	c.(1786-1788)CGG>TGG	p.R596W	PFAS_uc010vuv.1_Missense_Mutation_p.R172W|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	596					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACTGGAGACCGGAGAGTGAG	0.597		NA											8	78					0	0	0	0
AKAP10	11216	broad.mit.edu	37	17	19835125	19835125	+	Missense_Mutation	SNP	G	G	A	rs139003893		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:19835125G>A	uc002gwo.2	-	10	1771	c.1634C>T	c.(1633-1635)GCG>GTG	p.A545V	AKAP10_uc002gwp.1_Missense_Mutation_p.A545V|AKAP10_uc010cqw.1_Intron	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	545					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TACCTGAGACGCAGAGCTGTC	0.483		NA											10	48					0	0	0	0
VTN	7448	broad.mit.edu	37	17	26694894	26694894	+	Missense_Mutation	SNP	C	C	T	rs150566083		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:26694894C>T	uc002hbc.2	-	7	1315	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	SARM1_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SEBOX_uc010crk.1_5'UTR|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	389	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GTTCTGGTTGCGGCCACGGCT	0.592		NA											12	30					0	0	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265528	37265528	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:37265528T>C	uc002hrg.2	-	3	584	c.372A>G	c.(370-372)ATA>ATG	p.I124M	PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	124	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						TGTTGGAGAGTATTGTGTGGA	0.632		NA											14	33					0	0	0	0
RAMP2	10266	broad.mit.edu	37	17	40914816	40914816	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:40914816C>T	uc002ibg.2	+	4	542	c.474C>T	c.(472-474)CCC>CCT	p.P158P	LOC100190938_uc002ibd.1_5'Flank|LOC100190938_uc002ibe.3_5'Flank|LOC100190938_uc002ibf.3_5'Flank|RAMP2_uc010cyt.2_Silent_p.P163P|RAMP2_uc002ibh.2_3'UTR	NM_005854	NP_005845	O60895	RAMP2_HUMAN	receptor activity modifying protein 2 precursor	158	Helical; (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GCCTCATCCCCTTCCTCATCA	0.567		NA											17	49					0	0	0	0
SOX9	6662	broad.mit.edu	37	17	70119789	70119789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:70119789G>A	uc002jiw.2	+	3	1163	c.791G>A	c.(790-792)AGA>AAA	p.R264K	uc002jiv.2_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	264					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GAGGGGGGCAGACAGCCCCCT	0.647		NA											25	99					0	0	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886722	9886722	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:9886722C>T	uc002koi.3	+	2	695	c.246C>T	c.(244-246)GCC>GCT	p.A82A	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Silent_p.A15A	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	82					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						AGTCTGATGCCTCACAGGAGG	0.567		NA											23	81					0	0	0	0
MC2R	4158	broad.mit.edu	37	18	13885467	13885467	+	Silent	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:13885467A>G	uc002ksp.1	-	2	228	c.51T>C	c.(49-51)AAT>AAC	p.N17N		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	17	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTCGGAATTATTTCTTGCTG	0.433		NA											9	39					0	0	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602211	61602211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:61602211G>A	uc010xev.1	+	8	1019	c.929G>A	c.(928-930)GGG>GAG	p.G310E	SERPINB10_uc010xew.1_Missense_Mutation_p.G310E	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	310						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)|skin(1)	3		Esophageal squamous(42;0.131)				AGCAGTATGGGGATGAGTGAT	0.438		NA											8	27					0	0	0	0
CCL25	6370	broad.mit.edu	37	19	8122704	8122704	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:8122704G>C	uc002mjd.2	+	4	345	c.345G>C	c.(343-345)AAG>AAC	p.K115N	CCL25_uc002mjc.3_Missense_Mutation_p.K114N|CCL25_uc010dvy.1_Missense_Mutation_p.E71Q	NM_005624	NP_005615	O15444	CCL25_HUMAN	small inducible cytokine A25 precursor	115					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0						atgctgtaaagaagttgagtt	0		NA											11	27					0	0	0	0
KRI1	65095	broad.mit.edu	37	19	10675689	10675689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:10675689G>A	uc002moy.1	-	3	217	c.208C>T	c.(208-210)CGG>TGG	p.R70W	KRI1_uc002mox.1_Missense_Mutation_p.R66W	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	70										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TAAAAGTCCCGCTCCTGCTGG	0.517		NA									OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	39					0	0	0	0
FCHO1	23149	broad.mit.edu	37	19	17892312	17892312	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:17892312T>A	uc010ebb.2	+	21	1981	c.1792T>A	c.(1792-1794)TTG>ATG	p.L598M	FCHO1_uc002nhg.3_Missense_Mutation_p.L598M|FCHO1_uc002nhh.2_Missense_Mutation_p.L598M|FCHO1_uc010xpw.1_Missense_Mutation_p.L548M|FCHO1_uc002nhi.2_Missense_Mutation_p.L54M|FCHO1_uc002nhj.2_Translation_Start_Site	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	598										breast(1)	1						CAGCACTGCCTTGGAACGGCC	0.622		NA											18	61					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40392569	40392569	+	Silent	SNP	G	G	A	rs142183229	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:40392569G>A	uc002omp.3	-	16	7943	c.7935C>T	c.(7933-7935)AGC>AGT	p.S2645S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2645	VWFD 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACACTCCTCGCTGGGGATAC	0.657		NA											16	50					0	0	0	0
VN1R1	57191	broad.mit.edu	37	19	57967606	57967606	+	Silent	SNP	C	C	T	rs143275734		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:57967606C>T	uc002qos.1	-	1	249	c.249G>A	c.(247-249)ACG>ACA	p.T83T	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	83	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.T83R(1)		ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAATCAAGTCCGTGGGTCTCA	0.423		NA											8	22					0	0	0	0
GREB1	9687	broad.mit.edu	37	2	11767141	11767141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:11767141C>T	uc002rbk.1	+	25	4660	c.4360C>T	c.(4360-4362)CGG>TGG	p.R1454W	GREB1_uc002rbp.1_Missense_Mutation_p.R452W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1454						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAGACGGCACGGATGAGACT	0.572		NA											8	42					0	0	0	0
ATAD2B	54454	broad.mit.edu	37	2	24009046	24009046	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:24009046G>A	uc002rek.3	-	21	3118	c.2824C>T	c.(2824-2826)CGT>TGT	p.R942C	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.R187C|ATAD2B_uc002rej.3_Missense_Mutation_p.R110C	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	942							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAATTGACGAGGTGGAGAA	0.453		NA											3	8					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170055331	170055331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:170055331C>T	uc002ues.2	-	45	8756	c.8543G>A	c.(8542-8544)TGT>TAT	p.C2848Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2848	LDL-receptor class A 19.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTATCTCCACAGTCATTGTC	0.378		NA											8	20					0	0	0	0
MYO3B	140469	broad.mit.edu	37	2	171055899	171055899	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:171055899A>T	uc002ufy.2	+	2	327	c.184A>T	c.(184-186)AGT>TGT	p.S62C	MYO3B_uc002ufv.2_Missense_Mutation_p.S49C|MYO3B_uc010fqb.1_Missense_Mutation_p.S49C|MYO3B_uc002ufz.2_Missense_Mutation_p.S62C|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.S49C	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	62	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GGATCCAGTCAGTGTAAGTAA	0.363		NA											3	14					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179569648	179569648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:179569648C>G	uc010zfg.1	-	101	26142	c.25918G>C	c.(25918-25920)GAG>CAG	p.E8640Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5301Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9567							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)			ACAAGTTCCTCAAATTCCTTT	0.308		NA											33	95					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179595244	179595244	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:179595244G>T	uc010zfg.1	-	58	14508	c.14284C>A	c.(14284-14286)CTG>ATG	p.L4762M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1423M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5689							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)			TTGACTGTCAGATGCCCACTG	0.378		NA											29	86					1.22e-17	1.57e-17	1	0
ITGAV	3685	broad.mit.edu	37	2	187506226	187506226	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:187506226A>T	uc002upq.2	+	12	1346	c.1070A>T	c.(1069-1071)CAG>CTG	p.Q357L	ITGAV_uc010frs.2_Missense_Mutation_p.Q321L|ITGAV_uc010zfv.1_Missense_Mutation_p.Q311L	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	357	FG-GAP 5.|Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGAGACTTCCAGACGACAAAG	0.493		NA											52	141					0	0	0	0
DUSP28	285193	broad.mit.edu	37	2	241500794	241500794	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:241500794G>T	uc002vzg.2	+	2	1072	c.441G>T	c.(439-441)TGG>TGT	p.W147C	ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.W147C	NM_001033575	NP_001028747	Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	147							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(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;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		CGGGCTTCTGGTCTCAGCTCC	0.602		NA											14	45					3.27e-08	4.08e-08	1	0
ITCH	83737	broad.mit.edu	37	20	33033215	33033215	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:33033215T>C	uc010geu.1	+	12	1404	c.1212T>C	c.(1210-1212)CGT>CGC	p.R404R	ITCH_uc002xak.2_Silent_p.R363R|ITCH_uc010zuj.1_Silent_p.R253R	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	404	Required for interaction with FYN.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						AGCTACAGCGTAGTCAGCTTC	0.423		NA											27	55					0	0	0	0
PTPRT	11122	broad.mit.edu	37	20	40790072	40790072	+	Missense_Mutation	SNP	C	C	T	rs61753667		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:40790072C>T	uc002xkg.2	-	17	2786	c.2602G>A	c.(2602-2604)GCC>ACC	p.A868T	PTPRT_uc010ggj.2_Missense_Mutation_p.A887T|PTPRT_uc010ggi.2_Missense_Mutation_p.A71T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	868	Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCGGATGGCGGGTTGGAAC	0.622		NA											24	98					0	0	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676660	44676660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:44676660C>T	uc010zxl.1	+	16	2093	c.2017C>T	c.(2017-2019)CTC>TTC	p.L673F	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.L650F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	673					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGTCTGTCTCTCAGTGCGGC	0.607		NA											5	35					0	0	0	0
CTCFL	140690	broad.mit.edu	37	20	56098320	56098320	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:56098320C>T	uc010gix.1	-	2	1220	c.558G>A	c.(556-558)CAG>CAA	p.Q186Q	CTCFL_uc010giw.1_Silent_p.Q186Q|CTCFL_uc002xym.2_Silent_p.Q186Q|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.Q186Q|CTCFL_uc010gjb.1_Silent_p.Q186Q|CTCFL_uc010gjc.1_Silent_p.Q186Q|CTCFL_uc010gjd.1_Silent_p.Q186Q|CTCFL_uc010gje.2_Silent_p.Q186Q|CTCFL_uc010gjf.2_5'UTR|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.Q186Q|CTCFL_uc010gji.1_5'UTR|CTCFL_uc010gjj.1_Silent_p.Q186Q|CTCFL_uc010gjk.1_Silent_p.Q186Q|CTCFL_uc010gjl.1_Silent_p.Q186Q	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	186					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTTCTTCTCCTGCTCTTCCT	0.353		NA											13	101					0	0	0	0
SLC16A8	23539	broad.mit.edu	37	22	38477107	38477107	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:38477107G>T	uc003auu.2	-	4	1068	c.938C>A	c.(937-939)GCG>GAG	p.A313E		NM_013356	NP_037488	O95907	MOT3_HUMAN	solute carrier family 16, member 8	313	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity				0	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CCGCAGACGCGCCAGGCCCGC	0.741		NA											4	8					2.56e-06	3.1e-06	1	0
PHF21B	112885	broad.mit.edu	37	22	45289390	45289390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:45289390G>A	uc003bfn.2	-	7	1058	c.907C>T	c.(907-909)CGG>TGG	p.R303W	PHF21B_uc003bfm.2_Missense_Mutation_p.R99W|PHF21B_uc011aqk.1_Missense_Mutation_p.R249W|PHF21B_uc011aql.1_Missense_Mutation_p.R261W|PHF21B_uc011aqm.1_Missense_Mutation_p.R249W	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	303							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTTCTCTTCCGCTCCTGTCGC	0.632		NA											4	8					0	0	0	0
DPPA2	151871	broad.mit.edu	37	3	109027049	109027049	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr3:109027049T>C	uc003dxo.2	-	6	735	c.488A>G	c.(487-489)TAT>TGT	p.Y163C		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	163						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						ATTCATCTCATAACTTCTCTG	0.468		NA											19	71					0	0	0	0
WDR49	151790	broad.mit.edu	37	3	167223119	167223119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr3:167223119C>T	uc003fev.1	-	13	2110	c.1804G>A	c.(1804-1806)GGT>AGT	p.G602S	WDR49_uc003feu.1_Missense_Mutation_p.G427S|WDR49_uc011bpd.1_Missense_Mutation_p.G567S|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	602										large_intestine(1)|ovary(1)|skin(1)	3						ATAACTTCACCATAATAAGGT	0.259		NA											4	24					0	0	0	0
KIAA1530	57654	broad.mit.edu	37	4	1360207	1360207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:1360207C>T	uc003gde.3	+	8	1723	c.1276C>T	c.(1276-1278)CGG>TGG	p.R426W	KIAA1530_uc010ibv.2_5'UTR	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	426											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CGACCACTTGCGGCCTGAGTA	0.642		NA											57	156					0	0	0	0
HTT	3064	broad.mit.edu	37	4	3131671	3131672	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:3131671_3131672CC>AG	uc011bvq.1	+	14	1915_1916	c.1770_1771CC>AG	c.(1768-1773)AACCAG>AAAGAG	p.590_591NQ>KE		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	588_589					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTACCGACAACCAGTATTTGGG	0.505		NA											11	145					0	0	0	0
SORCS2	57537	broad.mit.edu	37	4	7735048	7735048	+	Splice_Site	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:7735048G>A	uc003gkb.3	+	24	3109	c.3109_splice	c.e24-1	p.R1037_splice	SORCS2_uc011bwi.1_Splice_Site_p.R865_splice	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor							integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						TGTGCTTGCAGAGGCTCGCCG	0.652		NA											2	2					0	0	0	0
ZNF827	152485	broad.mit.edu	37	4	146824264	146824264	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:146824264C>T	uc003ikn.2	-	2	195	c.147G>A	c.(145-147)CAG>CAA	p.Q49Q	ZNF827_uc003ikm.2_Silent_p.Q49Q|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TATAGTTCTCCTGGACTTCCC	0.562		NA											29	78					0	0	0	0
MYO10	4651	broad.mit.edu	37	5	16701457	16701457	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:16701457G>C	uc003jft.3	-	25	3515	c.3047C>G	c.(3046-3048)TCA>TGA	p.S1016*	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Nonsense_Mutation_p.S373*|MYO10_uc011cne.1_Nonsense_Mutation_p.S373*|MYO10_uc010itx.2_Nonsense_Mutation_p.S639*	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1016					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TCGCTGGTCTGAGTGGCCGTG	0.627		NA											13	34					0	0	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834432	101834432	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:101834432C>T	uc003knn.2	-	1	289	c.117G>A	c.(115-117)CCG>CCA	p.P39P	SLCO6A1_uc003kno.2_Silent_p.P39P|SLCO6A1_uc003knp.2_Silent_p.P39P|SLCO6A1_uc003knq.2_Silent_p.P39P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	39	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCGAGGACTTCGGGGTTCCCT	0.592		NA											104	57					0	0	0	0
IL9	3578	broad.mit.edu	37	5	135231263	135231263	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:135231263T>G	uc003lbb.1	-	2	142	c.131A>C	c.(130-132)AAG>ACG	p.K44T		NM_000590	NP_000581	P15248	IL9_HUMAN	interleukin 9 precursor	44					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGTGGCACTTGGAAGCTGG	0.378		NA											18	79					0	0	0	0
GRIA1	2890	broad.mit.edu	37	5	153026582	153026582	+	Silent	SNP	C	C	T	rs138090704		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:153026582C>T	uc003lva.3	+	3	680	c.315C>T	c.(313-315)CAC>CAT	p.H105H	GRIA1_uc003luy.3_Silent_p.H105H|GRIA1_uc003luz.3_Silent_p.H10H|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Silent_p.H36H|GRIA1_uc011dcy.1_Silent_p.H115H|GRIA1_uc011dcz.1_Silent_p.H115H|GRIA1_uc010jia.1_Silent_p.H85H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	105	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGCCCTCCACGTCTGCTTCA	0.502		NA											47	55					0	0	0	0
IL12B	3593	broad.mit.edu	37	5	158749490	158749490	+	Missense_Mutation	SNP	C	C	T	rs139186048		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:158749490C>T	uc003lxr.1	-	4	436	c.394G>A	c.(394-396)GAG>AAG	p.E132K		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	132					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTGGCCTCGCATCTTAGA	0.378		NA											14	40					0	0	0	0
UNC5A	90249	broad.mit.edu	37	5	176301345	176301345	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:176301345G>T	uc003mey.2	+	8	1348	c.1156G>T	c.(1156-1158)GAT>TAT	p.D386Y	UNC5A_uc010jkg.1_Missense_Mutation_p.D346Y	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	386	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCAGGATGGGCCCAG	0.647		NA											39	158					1.36e-19	1.76e-19	1	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033684	26033685	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:26033684_26033685CC>AA	uc003nft.1	-	1	112_113	c.112_113GG>TT	c.(112-114)GGC>TTC	p.G38F	HIST1H3B_uc003nfs.1_5'Flank	NM_003513	NP_003504	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	38				GN -> AH (in Ref. 1; CAA24951).	nucleosome assembly	nucleosome|nucleus	DNA binding				0						GGAGTAGTTGCCTTTGCGGAGC	0.653		NA											14	93					0	0	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107126	27107126	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:27107126A>C	uc003niy.1	+	1	39	c.39A>C	c.(37-39)AAA>AAC	p.K13N	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	13					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						GCCTGGGGAAAGGGGGTGCCA	0.597		NA	T	BCL6	NHL								19	51					0	0	0	0
HLA-B	3106	broad.mit.edu	37	6	31323330	31323330	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:31323330T>G	uc003nth.2	-	4	713	c.659A>C	c.(658-660)GAC>GCC	p.D220A	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.D99A|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	220	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						GGCCTCATGGTCAGAGATGGG	0.582		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				27	175					0	0	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138309	32138309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32138309C>T	uc003oae.2	-	4	721	c.403G>A	c.(403-405)GCC>ACC	p.A135T	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.A99T|AGPAT1_uc003oaf.2_Missense_Mutation_p.A135T|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Missense_Mutation_p.A135T|AGPAT1_uc003oai.1_Missense_Mutation_p.A135T|AGPAT1_uc011dpl.1_Missense_Mutation_p.A23T	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	135	Helical; (Potential).				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						GCCAGCCCGGCAGAGCCAGCC	0.652		NA											15	107					0	0	0	0
AGER	177	broad.mit.edu	37	6	32150719	32150720	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150719_32150720GC>TT	uc003oal.1	-	6	613_614	c.589_590GC>AA	c.(589-591)GCC>AAC	p.A197N	AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.A96N|AGER_uc011dpm.1_Missense_Mutation_p.A96N|AGER_uc011dpn.1_Missense_Mutation_p.A96N|AGER_uc010jtv.1_Missense_Mutation_p.A197N|AGER_uc011dpo.1_Missense_Mutation_p.A110N|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.A183N|AGER_uc003oap.1_Missense_Mutation_p.A213N|AGER_uc003oat.1_Missense_Mutation_p.A213N|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.A183N|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.A197N|AGER_uc003oau.1_Missense_Mutation_p.A197N|AGER_uc011dpp.1_Missense_Mutation_p.A197N|AGER_uc011dpq.1_Missense_Mutation_p.A213N	NM_001136	NP_001127	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific	197	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)	1						TCCTCCCCGGGCTGGGGTCACC	0.619		NA											11	94					0	0	0	0
AGER	177	broad.mit.edu	37	6	32150723	32150723	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150723G>C	uc003oal.1	-	6	610	c.586C>G	c.(586-588)CCA>GCA	p.P196A	AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.P95A|AGER_uc011dpm.1_Missense_Mutation_p.P95A|AGER_uc011dpn.1_Missense_Mutation_p.P95A|AGER_uc010jtv.1_Missense_Mutation_p.P196A|AGER_uc011dpo.1_Missense_Mutation_p.P109A|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.P182A|AGER_uc003oap.1_Missense_Mutation_p.P212A|AGER_uc003oat.1_Missense_Mutation_p.P212A|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.P182A|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.P196A|AGER_uc003oau.1_Missense_Mutation_p.P196A|AGER_uc011dpp.1_Missense_Mutation_p.P196A|AGER_uc011dpq.1_Missense_Mutation_p.P212A	NM_001136	NP_001127	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific	196	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)	1						CCCCGGGCTGGGGTCACCATT	0.607		NA											10	94					0	0	0	0
LAMA4	3910	broad.mit.edu	37	6	112537594	112537594	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:112537594C>A	uc003pvu.2	-	3	581	c.272G>T	c.(271-273)TGT>TTT	p.C91F	LAMA4_uc003pvv.2_Missense_Mutation_p.C91F|LAMA4_uc003pvt.2_Missense_Mutation_p.C91F|LAMA4_uc003pvw.2_Missense_Mutation_p.C91F	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	91	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCGTCCAAACACTCGTTGGA	0.458		NA											8	56					7.48e-07	9.1e-07	1	0
RFX6	222546	broad.mit.edu	37	6	117250042	117250042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:117250042C>T	uc003pxm.2	+	18	2582	c.2519C>T	c.(2518-2520)CCA>CTA	p.P840L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	840					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						ATCCACGATCCACTTAACATT	0.463		NA											24	99					0	0	0	0
GPER	2852	broad.mit.edu	37	7	1132135	1132135	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:1132135G>A	uc010ksd.1	+	2	1160	c.771G>A	c.(769-771)GCG>GCA	p.A257A	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.A257A|GPER_uc003ska.1_Silent_p.A257A|GPER_uc003skb.2_Silent_p.A257A	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	257	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		GGCAGAAGGCGCTCCGCATGA	0.682		NA											26	59					0	0	0	0
FKBP14	55033	broad.mit.edu	37	7	30058665	30058665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:30058665C>A	uc003tal.1	-	3	568	c.424G>T	c.(424-426)GAA>TAA	p.E142*	FKBP14_uc010kvq.1_RNA	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	142	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TGGAATGATTCATGGGATCTT	0.393		NA											15	69					6.32e-08	7.83e-08	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:94827740C>T	uc003unp.2	+	6	2116	c.1834C>T	c.(1834-1836)CGC>TGC	p.R612C	PPP1R9A_uc010lfj.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.1_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.1_Missense_Mutation_p.R612C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	612	Potential.|Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.448		NA								HNSCC(28;0.073)			23	126					0	0	0	0
TFR2	7036	broad.mit.edu	37	7	100238307	100238307	+	Splice_Site	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:100238307A>G	uc003uvv.1	-	3	514	c.473_splice	c.e3+1	p.R158_splice	TFR2_uc003uvw.1_Nonstop_Mutation_p.*159Q	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2						cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCATCCCTACCTGATGGTG	0.657		NA											5	17					0	0	0	0
TNPO3	23534	broad.mit.edu	37	7	128640537	128640537	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:128640537C>T	uc003vol.1	-	7	1331	c.957G>A	c.(955-957)GGG>GGA	p.G319G	TNPO3_uc003vom.1_Silent_p.G253G|TNPO3_uc010lly.1_Silent_p.G319G|TNPO3_uc010llz.1_Silent_p.G319G	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	319					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						TTCGAAGGTCCCCAAGACCTT	0.433		NA											16	76					0	0	0	0
ZNF425	155054	broad.mit.edu	37	7	148802572	148802572	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:148802572T>C	uc003wfj.2	-	4	464	c.391A>G	c.(391-393)AAA>GAA	p.K131E		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTCTCTCTTTCCCTCGTAAG	0.428		NA											3	84					0	0	0	0
LYN	4067	broad.mit.edu	37	8	56860268	56860268	+	Missense_Mutation	SNP	G	G	A	rs149135061		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:56860268G>A	uc003xsk.3	+	4	552	c.270G>A	c.(268-270)ATG>ATA	p.M90I	LYN_uc003xsl.3_Missense_Mutation_p.M69I	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	90	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAGAGAAGATGAAAGTCCTGG	0.527		NA											20	101					0	0	0	0
MRPS28	28957	broad.mit.edu	37	8	80915385	80915385	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:80915385A>G	uc003ybp.2	-	2	267	c.244T>C	c.(244-246)TCT>CCT	p.S82P	MRPS28_uc003ybo.2_5'UTR|TPD52_uc010lzr.2_RNA	NM_014018	NP_054737	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	82						mitochondrial small ribosomal subunit					0	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CTCAGCATAGATGCAAAGGAT	0.338		NA											8	37					0	0	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352728	92352728	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:92352728T>C	uc003yex.2	+	9	1253	c.975T>C	c.(973-975)GCT>GCC	p.A325A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.A325A|SLC26A7_uc003yfa.2_Silent_p.A325A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	325	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCACTGGCTCTTGCTCAAG	0.502		NA											21	106					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113249437	113249437	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:113249437T>C	uc003ynu.2	-	67	10768	c.10609A>G	c.(10609-10611)ATG>GTG	p.M3537V	CSMD3_uc003yns.2_Missense_Mutation_p.M2739V|CSMD3_uc003ynt.2_Missense_Mutation_p.M3497V|CSMD3_uc011lhx.1_Missense_Mutation_p.M3368V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3537	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGCAGCTCCATGTTGCTATTG	0.358		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	126					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113347673	113347673	+	Silent	SNP	G	G	A	rs142588028		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:113347673G>A	uc003ynu.2	-	45	7209	c.7050C>T	c.(7048-7050)ATC>ATT	p.I2350I	CSMD3_uc003yns.2_Silent_p.I1552I|CSMD3_uc003ynt.2_Silent_p.I2310I|CSMD3_uc011lhx.1_Silent_p.I2246I|CSMD3_uc003ynw.1_Silent_p.I61I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2350	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGAACTGACCGATCTGAGGTG	0.403		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	13					0	0	0	0
PCSK5	5125	broad.mit.edu	37	9	78796390	78796390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:78796390G>A	uc004ajz.2	+	16	2618	c.2080G>A	c.(2080-2082)GAG>AAG	p.E694K	PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_5'UTR	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	694	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						CCCCAACTGTGAGTCCTGCTT	0.517		NA											15	49					0	0	0	0
CRB2	286204	broad.mit.edu	37	9	126125359	126125359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:126125359C>T	uc004bnx.1	+	2	402	c.310C>T	c.(310-312)CGC>TGC	p.R104C	CRB2_uc004bnw.1_Missense_Mutation_p.R104C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	104	Extracellular (Potential).|EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCAGGGCCCACGCTGCGAGCT	0.682		NA											8	39					0	0	0	0
FAM102A	399665	broad.mit.edu	37	9	130712724	130712724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:130712724C>T	uc004bsx.1	-	4	471	c.392G>A	c.(391-393)CGC>CAC	p.R131H	FAM102A_uc004bsw.1_5'UTR|FAM102A_uc004bsy.1_5'Flank	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	131										ovary(1)	1						GTTGTCCTGGCGAGTGTTCTT	0.602		NA											19	102					0	0	0	0
PHKA2	5256	broad.mit.edu	37	X	18949759	18949759	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:18949759C>A	uc004cyv.3	-	12	1675	c.1245G>T	c.(1243-1245)GAG>GAT	p.E415D		NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	415					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					AAGCCCCTACCTCTGCCAACA	0.552		NA									OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	130					2.71e-09	3.41e-09	1	0
SYTL5	94122	broad.mit.edu	37	X	37984588	37984588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:37984588A>G	uc004ddu.2	+	17	2413	c.1879A>G	c.(1879-1881)AAA>GAA	p.K627E	SYTL5_uc004ddv.2_Missense_Mutation_p.K627E|SYTL5_uc004ddx.2_Missense_Mutation_p.K649E	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	627	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						CACCAAGCACAAAACTCTGGT	0.403		NA											10	24					0	0	0	0
AKAP4	8852	broad.mit.edu	37	X	49957377	49957377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:49957377C>A	uc004dow.1	-	5	2111	c.1987G>T	c.(1987-1989)GCA>TCA	p.A663S	AKAP4_uc004dov.1_Missense_Mutation_p.A280S|AKAP4_uc010njp.1_Missense_Mutation_p.A485S|AKAP4_uc004dou.1_Missense_Mutation_p.A654S	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	663					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					ATGGAAGCTGCTTTGCTTGCC	0.478		NA											11	47					3.86e-05	4.64e-05	1	0
TRO	7216	broad.mit.edu	37	X	54955308	54955308	+	Silent	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:54955308C>A	uc004dtq.2	+	12	2258	c.2151C>A	c.(2149-2151)GCC>GCA	p.A717A	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.A248A|TRO_uc004dtw.2_Silent_p.A320A|TRO_uc004dtx.2_Silent_p.A100A	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	717					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						ATGCAGATGCCAGCACCAACG	0.512		NA											21	33					1.02e-10	1.3e-10	1	0
ZXDB	158586	broad.mit.edu	37	X	57619372	57619372	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:57619372C>T	uc004dvd.2	+	1	1104	c.891C>T	c.(889-891)AGC>AGT	p.S297S		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	297	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						CGCACAGCAGCAGCCAGGGCC	0.642		NA											4	12					0	0	0	0
ZXDA	7789	broad.mit.edu	37	X	57936696	57936696	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:57936696G>A	uc004dve.2	-	1	372	c.159C>T	c.(157-159)GGC>GGT	p.G53G		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	53					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						gcccgggcccgccATCTTGGG	0.677		NA											7	12					0	0	0	0
MAGT1	84061	broad.mit.edu	37	X	77112872	77112872	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:77112872G>A	uc004fof.2	-	4	671	c.609C>T	c.(607-609)GCC>GCT	p.A203A	MAGT1_uc004fog.3_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	171					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						CAGTTCTGTCGGCGATCCACC	0.468		NA											63	153					0	0	0	0
BRWD3	254065	broad.mit.edu	37	X	79978124	79978124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:79978124C>T	uc004edt.2	-	17	2076	c.1813G>A	c.(1813-1815)GTA>ATA	p.V605I	BRWD3_uc010nmi.1_5'Flank|BRWD3_uc004edo.2_Missense_Mutation_p.V201I|BRWD3_uc004edp.2_Missense_Mutation_p.V434I|BRWD3_uc004edq.2_Missense_Mutation_p.V201I|BRWD3_uc010nmj.1_Missense_Mutation_p.V201I|BRWD3_uc004edr.2_Missense_Mutation_p.V275I|BRWD3_uc004eds.2_Missense_Mutation_p.V201I|BRWD3_uc004edu.2_Missense_Mutation_p.V275I|BRWD3_uc004edv.2_Missense_Mutation_p.V201I|BRWD3_uc004edw.2_Missense_Mutation_p.V201I|BRWD3_uc004edx.2_Missense_Mutation_p.V201I|BRWD3_uc004edy.2_Missense_Mutation_p.V201I|BRWD3_uc004edz.2_Missense_Mutation_p.V275I|BRWD3_uc004eea.2_Missense_Mutation_p.V275I|BRWD3_uc004eeb.2_Missense_Mutation_p.V201I	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	605										ovary(4)	4						CGTCCTGGTACCAACCGTTGG	0.403		NA											4	33					0	0	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931661	102931661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:102931661G>A	uc004ekw.2	-	4	1527	c.295C>T	c.(295-297)CGG>TGG	p.R99W	MORF4L2_uc004ela.2_Missense_Mutation_p.R99W|MORF4L2_uc004ekx.2_Missense_Mutation_p.R99W|MORF4L2_uc004elb.2_Missense_Mutation_p.R99W|MORF4L2_uc004eky.2_Missense_Mutation_p.R99W|MORF4L2_uc010nos.2_Missense_Mutation_p.R99W|MORF4L2_uc004ekz.2_Missense_Mutation_p.R99W|MORF4L2_uc011mry.1_Missense_Mutation_p.R99W|MORF4L2_uc011mrz.1_Missense_Mutation_p.R99W|MORF4L2_uc004elc.2_Missense_Mutation_p.R99W|MORF4L2_uc004elf.2_Missense_Mutation_p.R99W|MORF4L2_uc004ele.2_Missense_Mutation_p.R99W|MORF4L2_uc011msa.1_Missense_Mutation_p.R99W|MORF4L2_uc011msb.1_Missense_Mutation_p.R99W|MORF4L2_uc011msc.1_Missense_Mutation_p.R99W|MORF4L2_uc011msd.1_Missense_Mutation_p.R99W|MORF4L2_uc004eld.2_Missense_Mutation_p.R99W	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	99					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0						CTTTTCTTCCGAGGGGGCTGA	0.512		NA											34	134					0	0	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686191	125686191	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:125686191G>C	uc004eul.2	-	1	652	c.401C>G	c.(400-402)CCC>CGC	p.P134R		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	134										skin(3)|ovary(1)	4						CCGCAAGAGGGGAATGCGCGC	0.632		NA											17	72					0	0	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395563	43395564	+	Frame_Shift_Ins	INS	-	-	TCGT			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:43395563_43395564insTCGT	uc001cik.2	-	5	1184_1185	c.659_660insACGA	c.(658-660)GAGfs	p.E220fs		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	220	Cytoplasmic (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCCGGTTCTCCTCGTTGCGGTT	0.653		NA											21	134	---	---	---	---	NA	NA	NA	NA
STIL	6491	broad.mit.edu	37	1	47726187	47726202	+	Frame_Shift_Del	DEL	TATTTAATAGGTGGTT	TATTTAATAGGTGGTT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:47726187_47726202delTATTTAATAGGTGGTT	uc001crc.1	-	16	2991_3006	c.2836_2851delAACCACCTATTAAATA	c.(2836-2853)AACCACCTATTAAATAGTfs	p.N946fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.N900fs|STIL_uc010omo.1_Frame_Shift_Del_p.N929fs|STIL_uc001crd.1_Frame_Shift_Del_p.N947fs|STIL_uc001cre.1_Frame_Shift_Del_p.N946fs|STIL_uc001crf.1_Frame_Shift_Del_p.N559fs|STIL_uc001crg.1_Frame_Shift_Del_p.N882fs	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	946_951					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGGAGGAACTATTTAATAGGTGGTTTACTTGACCC	0.273		NA											26	120	---	---	---	---	NA	NA	NA	NA
DNHD1	144132	broad.mit.edu	37	11	6588483	6588483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:6588483delC	uc001mdw.3	+	36	12308	c.11744delC	c.(11743-11745)ACCfs	p.T3915fs	DNHD1_uc001mea.3_Frame_Shift_Del_p.T184fs|DNHD1_uc001meb.2_Frame_Shift_Del_p.T183fs|DNHD1_uc001mec.2_Frame_Shift_Del_p.T183fs|DNHD1_uc010rao.1_Frame_Shift_Del_p.T173fs|DNHD1_uc009yfg.2_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	3915					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACACCTGACCCGCCAGCTG	0.587		NA											23	137	---	---	---	---	NA	NA	NA	NA
OR4M1	441670	broad.mit.edu	37	14	20249046	20249046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:20249046delT	uc010tku.1	+	1	565	c.565delT	c.(565-567)TGTfs	p.C189fs		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGGATTGCCTGTGCCAACAC	0.458		NA											37	271	---	---	---	---	NA	NA	NA	NA
OTX2	5015	broad.mit.edu	37	14	57268457	57268457	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:57268457delA	uc001xcp.2	-	3	1037	c.866delT	c.(865-867)TTGfs	p.L289fs	OTX2_uc010aou.2_Frame_Shift_Del_p.L289fs|OTX2_uc001xcq.2_Frame_Shift_Del_p.L297fs	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	289					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGGTCTTCACAAAACCTGGAA	0.408		NA											14	73	---	---	---	---	NA	NA	NA	NA
MMP15	4324	broad.mit.edu	37	16	58077474	58077475	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:58077474_58077475insG	uc002ena.2	+	9	2486_2487	c.1513_1514insG	c.(1513-1515)AGTfs	p.S505fs		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	505	Hemopexin-like 3.|Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						CAAGCCCATCAGTGTCTGGCAG	0.599		NA											11	39	---	---	---	---	NA	NA	NA	NA
PIP4K2B	8396	broad.mit.edu	37	17	36927448	36927450	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:36927448_36927450delCTC	uc002hqs.2	-	8	1364_1366	c.883_885delGAG	c.(883-885)GAGdel	p.E295del	PIP4K2B_uc010cvp.2_5'Flank	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	295	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						ccacctccatctcctcctgctcT	0.448		NA											8	40	---	---	---	---	NA	NA	NA	NA
CLEC4F	165530	broad.mit.edu	37	2	71044191	71044202	+	In_Frame_Del	DEL	TAAATGTCTGGA	TAAATGTCTGGA	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:71044191_71044202delTAAATGTCTGGA	uc002shf.2	-	4	388_399	c.311_322delTCCAGACATTTA	c.(310-324)ATCCAGACATTTAAA>AAA	p.IQTF104del	CLEC4F_uc010yqv.1_In_Frame_Del_p.IQTF104del	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	104_107	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						ATGTGGCCTTTAAATGTCTGGATAAGCTCTCG	0.491		NA											7	51	---	---	---	---	NA	NA	NA	NA
PXMP4	11264	broad.mit.edu	37	20	32307907	32307911	+	Frame_Shift_Del	DEL	CCGTT	CCGTT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:32307907_32307911delCCGTT	uc002wzv.2	-	1	226_230	c.103_107delAACGG	c.(103-108)AACGGGfs	p.N35fs	PXMP4_uc002wzw.2_Frame_Shift_Del_p.N35fs|PXMP4_uc010zuh.1_Frame_Shift_Del_p.N35fs	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	35_36						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						TCACACAGCCCCGTTCCGGAAGCCC	0.688		NA											14	92	---	---	---	---	NA	NA	NA	NA
NRIP1	8204	broad.mit.edu	37	21	16337046	16337049	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr21:16337046_16337049delTTCT	uc002yjx.2	-	4	4063_4066	c.3465_3468delAGAA	c.(3463-3468)AAAGAAfs	p.K1155fs		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1155_1156	Repression domain 4.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTATTCTGATTCTTTCTTTATCG	0.373		NA											23	58	---	---	---	---	NA	NA	NA	NA
C6	729	broad.mit.edu	37	5	41159257	41159257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:41159257delG	uc003jmk.2	-	12	1993	c.1783delC	c.(1783-1785)CAAfs	p.Q595fs	C6_uc003jml.1_Frame_Shift_Del_p.Q595fs	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTCCTCGTTGGGGGGCAGGA	0.498		NA											22	114	---	---	---	---	NA	NA	NA	NA
KDM3B	51780	broad.mit.edu	37	5	137727094	137727097	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:137727094_137727097delGAAA	uc003lcy.1	+	8	1973_1976	c.1773_1776delGAAA	c.(1771-1776)CGGAAAfs	p.R591fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.R247fs|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	591_592					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CTGTGGACCGGAAAGTGCCTGCAG	0.544		NA											18	85	---	---	---	---	NA	NA	NA	NA
GTF2IRD2	84163	broad.mit.edu	37	7	74211326	74211327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:74211326_74211327insT	uc003ubd.1	-	16	2708_2709	c.2524_2525insA	c.(2524-2526)CTCfs	p.L842fs	GTF2IRD2_uc010lbt.1_Frame_Shift_Ins_p.L389fs	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						gctttcgtagagtttgaaatca	0		NA											12	65	---	---	---	---	NA	NA	NA	NA
VPS13B	157680	broad.mit.edu	37	8	100871564	100871572	+	In_Frame_Del	DEL	AGCCCTGCA	AGCCCTGCA	-	rs61754107	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:100871564_100871572delAGCCCTGCA	uc003yiv.2	+	57	11086_11094	c.10975_10983delAGCCCTGCA	c.(10975-10983)AGCCCTGCAdel	p.SPA3659del	VPS13B_uc003yiw.2_In_Frame_Del_p.SPA3634del	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3659_3661					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTCTTGGCAGCCCTGCAAGCCTGGTGA	0.56		NA											10	127	---	---	---	---	NA	NA	NA	NA
CDKN2A	1029	broad.mit.edu	37	9	21968234	21968234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:21968234delG	uc003zpk.2	-	3	677	c.465delC	c.(463-465)CCCfs	p.P155fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	155					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(4)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTTTCAATCGGGGATGTCTG	0.557		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			28	21	---	---	---	---	NA	NA	NA	NA
