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
HSPG2	3339	broad.mit.edu	37	1	22199894	22199894	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:22199894T>C	uc001bfj.2	-	30	3807	c.3767A>G	c.(3766-3768)AAC>AGC	p.N1256S	HSPG2_uc009vqd.2_Missense_Mutation_p.N1257S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1256	Laminin EGF-like 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGGCTGGGGTTGCCATAGTA	0.587		NA											17	95					0	0	0	0
COL16A1	1307	broad.mit.edu	37	1	32154663	32154663	+	Silent	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:32154663G>T	uc001btk.1	-	24	2009	c.1644C>A	c.(1642-1644)ATC>ATA	p.I548I	COL16A1_uc001btj.1_Silent_p.I377I|COL16A1_uc001btl.3_Silent_p.I548I	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	548	Triple-helical region 8 (COL8) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCTCTCCTTTGATGCCTTGGA	0.592		NA											34	72					3.66e-26	1.31e-25	1	0
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:62293185G>A	uc001dab.2	+	16	2024	c.1910G>A	c.(1909-1911)CGG>CAG	p.R637Q	INADL_uc009waf.1_Missense_Mutation_p.R637Q|INADL_uc001daa.2_Missense_Mutation_p.R637Q|INADL_uc001dad.3_Missense_Mutation_p.R334Q|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GTTTGCTGTCGGAGGTTGTTT	0.443		NA											40	129					0	0	0	0
L1TD1	54596	broad.mit.edu	37	1	62672650	62672650	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:62672650G>A	uc001dae.3	+	3	652	c.350G>A	c.(349-351)GGG>GAG	p.G117E		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	117										ovary(1)|skin(1)	2						gggatggtagggaaaatagaa	0.05		NA											17	78					0	0	0	0
ALG6	29929	broad.mit.edu	37	1	63879798	63879798	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:63879798C>A	uc010oow.1	+	10	1188	c.883C>A	c.(883-885)CAC>AAC	p.H295N	ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_Intron|ALG6_uc010oox.1_Missense_Mutation_p.H94N	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	dolichyl pyrophosphate Man9GlcNAc2	295					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0						TTTGCCACGTCACATCCAATT	0.269		NA											18	41					6.94e-10	2.33e-09	1	0
ECM1	1893	broad.mit.edu	37	1	150485926	150485926	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:150485926G>C	uc001eus.2	+	10	1805	c.1606G>C	c.(1606-1608)GAG>CAG	p.E536Q	ECM1_uc001eut.2_Missense_Mutation_p.E411Q|ECM1_uc001euu.2_Missense_Mutation_p.E565Q|ECM1_uc001euv.2_Missense_Mutation_p.E563Q|ECM1_uc009wlu.2_Missense_Mutation_p.E296Q	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	536					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCACCTCTGAGCCCAAGGA	0.562		NA											4	48					0	0	0	0
TRIM46	80128	broad.mit.edu	37	1	155152365	155152365	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:155152365G>A	uc001fhs.1	+	8	1626	c.1543G>A	c.(1543-1545)GGC>AGC	p.G515S	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.G515S|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.G389S|TRIM46_uc001fhu.1_Missense_Mutation_p.G492S|TRIM46_uc009wpg.1_Missense_Mutation_p.G502S|TRIM46_uc001fhv.3_Missense_Mutation_p.G502S|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	515	Fibronectin type-III.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCCGGCTACGGCGAATACAG	0.657		NA											13	34					0	0	0	0
CACNA1E	777	broad.mit.edu	37	1	181767596	181767596	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:181767596G>A	uc001gow.2	+	47	6604	c.6439G>A	c.(6439-6441)GAG>AAG	p.E2147K	CACNA1E_uc009wxs.2_Missense_Mutation_p.E2035K|CACNA1E_uc009wxt.2_Missense_Mutation_p.E1416K	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2190	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TGATGGAAGCGAGGAGGGCTC	0.642		NA											23	50					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214171226	214171226	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:214171226C>A	uc001hkh.2	+	2	1620	c.1348C>A	c.(1348-1350)CAG>AAG	p.Q450K	PROX1_uc001hkg.1_Missense_Mutation_p.Q450K	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	450					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTCCTCTGACCAGTCTGCCTC	0.642		NA											32	71					6.39e-12	2.19e-11	1	0
OBSCN	84033	broad.mit.edu	37	1	228437860	228437860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:228437860C>T	uc009xez.1	+	14	4272	c.4228C>T	c.(4228-4230)CAG>TAG	p.Q1410*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.Q1410*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1410	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTGGTGGTGCAGCAGGCATG	0.647		NA											41	92					0	0	0	0
CEP170	9859	broad.mit.edu	37	1	243333053	243333053	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:243333053C>T	uc001hzs.2	-	12	2128	c.1720G>A	c.(1720-1722)GGC>AGC	p.G574S	CEP170_uc001hzt.2_Missense_Mutation_p.G476S|CEP170_uc001hzu.2_Missense_Mutation_p.G476S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	574						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAAGATGTGCCTTCCTAAAGG	0.383		NA											6	20					0	0	0	0
NLRP3	114548	broad.mit.edu	37	1	247588449	247588449	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:247588449C>T	uc001icr.2	+	5	1842	c.1704C>T	c.(1702-1704)TTC>TTT	p.F568F	NLRP3_uc001ics.2_Silent_p.F568F|NLRP3_uc001icu.2_Silent_p.F568F|NLRP3_uc001icw.2_Silent_p.F568F|NLRP3_uc001icv.2_Silent_p.F568F|NLRP3_uc010pyw.1_Silent_p.F566F|NLRP3_uc001ict.1_Silent_p.F566F	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	568					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGGCAAATTCGAAAAGGGGT	0.463		NA											16	34					0	0	0	0
DRGX	644168	broad.mit.edu	37	10	50594749	50594749	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:50594749C>G	uc010qgq.1	-	4	405	c.405G>C	c.(403-405)AAG>AAC	p.K135N		NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	135					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCAGCGCCTCCTTCTTACTCC	0.642		NA											20	33					0	0	0	0
AGAP7	653268	broad.mit.edu	37	10	51464881	51464881	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:51464881G>A	uc001jio.2	-	7	1701	c.1575C>T	c.(1573-1575)AGC>AGT	p.S525S	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	525	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						TCCGCCCCTGGCTGCTCCCTT	0.537		NA											6	193					0	0	0	0
PRF1	5551	broad.mit.edu	37	10	72358804	72358804	+	Missense_Mutation	SNP	G	G	A	rs28933973		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:72358804G>A	uc009xqg.2	-	3	834	c.673C>T	c.(673-675)CGG>TGG	p.R225W	PRF1_uc001jrf.3_Missense_Mutation_p.R225W	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	225	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TCCACAGCCCGGATGAAGTGG	0.657		NA	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				13	35					0	0	0	0
TMEM180	79847	broad.mit.edu	37	10	104229810	104229810	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:104229810C>A	uc001kvt.2	+	4	448	c.229C>A	c.(229-231)CAG>AAG	p.Q77K	TMEM180_uc001kvs.2_Missense_Mutation_p.Q77K|TMEM180_uc010qql.1_5'UTR|TMEM180_uc010qqm.1_Missense_Mutation_p.Q77K|TMEM180_uc001kvu.2_Missense_Mutation_p.Q77K	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	77						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGTGACCGGCAGTTCCTCAG	0.592		NA											20	20					1.38e-19	4.89e-19	1	0
CDHR5	53841	broad.mit.edu	37	11	621590	621590	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:621590A>C	uc001lqj.2	-	5	584	c.479T>G	c.(478-480)CTG>CGG	p.L160R	CDHR5_uc001lqk.2_Missense_Mutation_p.L160R|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.L160R|CDHR5_uc001lql.2_Missense_Mutation_p.L160R|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.L129R	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	160	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GGTGTAGAACAGAATGTCGTC	0.647		NA											23	73					0	0	0	0
CPT1A	1374	broad.mit.edu	37	11	68562283	68562283	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:68562283C>T	uc001oog.3	-	8	1038	c.868G>A	c.(868-870)GAA>AAA	p.E290K	CPT1A_uc001oof.3_Missense_Mutation_p.E290K|CPT1A_uc009ysj.2_Missense_Mutation_p.E290K	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	290	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTTTGATTTCCTCCCGGTCC	0.328		NA											32	66					0	0	0	0
ABCG4	64137	broad.mit.edu	37	11	119029297	119029297	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:119029297G>A	uc001pvs.2	+	11	1534	c.1198G>A	c.(1198-1200)GTG>ATG	p.V400M	ABCG4_uc009zar.2_Missense_Mutation_p.V400M	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	400	ABC transmembrane type-2.|Helical; Name=1; (Potential).				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGTCCCACGTGGTTATTGG	0.562		NA											57	156					0	0	0	0
CBL	867	broad.mit.edu	37	11	119169109	119169109	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:119169109G>A	uc001pwe.2	+	15	2431	c.2293G>A	c.(2293-2295)GAG>AAG	p.E765K		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	765	Interaction with CD2AP.|Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACTGGTCCCGAGGAGTCAGA	0.507		NA							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				14	64					0	0	0	0
OR6T1	219874	broad.mit.edu	37	11	123813951	123813951	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:123813951C>A	uc010sab.1	-	1	595	c.595G>T	c.(595-597)GCT>TCT	p.A199S		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCATGAAAGCCACCAGTTTC	0.547		NA											23	45					2.22e-12	7.63e-12	1	0
VWA5A	4013	broad.mit.edu	37	11	123993788	123993788	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:123993788C>T	uc001pzu.2	+	8	1091	c.882C>T	c.(880-882)AGC>AGT	p.S294S	VWA5A_uc001pzr.2_Silent_p.S294S|VWA5A_uc001pzs.2_Silent_p.S294S|VWA5A_uc010sae.1_Silent_p.S310S|VWA5A_uc001pzt.2_Silent_p.S294S	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	294	VWFA.									upper_aerodigestive_tract(1)|ovary(1)	2						GTATGCAGAGCCCCATGAGTA	0.463		NA											7	21					0	0	0	0
SYT10	341359	broad.mit.edu	37	12	33559823	33559823	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:33559823T>C	uc001rll.1	-	3	1275	c.978A>G	c.(976-978)AGA>AGG	p.R326R	SYT10_uc009zju.1_Silent_p.R136R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	326	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCATGTCATGTCTAGAAAATC	0.368		NA											19	30					0	0	0	0
SFRS2IP	9169	broad.mit.edu	37	12	46326990	46326990	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:46326990T>C	uc001rox.2	-	9	945	c.658A>G	c.(658-660)ATC>GTC	p.I220V	SFRS2IP_uc001roy.1_Missense_Mutation_p.I294V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	220					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		AATGCACTGATTTCACTGGCT	0.308		NA											12	42					0	0	0	0
ASB8	140461	broad.mit.edu	37	12	48543326	48543326	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:48543326C>T	uc001rrh.2	-	4	859	c.690G>A	c.(688-690)GTG>GTA	p.V230V	ASB8_uc010slr.1_Silent_p.V226V	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	230					intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1						GGTCTCTGGCCACCTCTCGTG	0.532		NA											19	44					0	0	0	0
ACACB	32	broad.mit.edu	37	12	109634899	109634899	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:109634899G>A	uc001tob.2	+	17	2687	c.2568G>A	c.(2566-2568)GGG>GGA	p.G856G	ACACB_uc001toc.2_Silent_p.G856G	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	856					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ATGATGGGGGGCTCCTGCTCT	0.587		NA											20	31					0	0	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912862	130912862	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:130912862G>A	uc001uil.2	-	12	2387	c.2223C>T	c.(2221-2223)GAC>GAT	p.D741D		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	741						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTGGTACTCGTCTCCATGGC	0.587		NA											28	54					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39265021	39265021	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:39265021C>T	uc001uwv.2	+	1	3849	c.3540C>T	c.(3538-3540)CCC>CCT	p.P1180P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1180	CSPG 8.|Extracellular (Potential).				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)		AGTTCTTCCCCATTGTAATCA	0.423		NA											67	103					0	0	0	0
PCDH20	64881	broad.mit.edu	37	13	61986231	61986231	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:61986231G>A	uc001vid.3	-	2	2365	c.2001C>T	c.(1999-2001)GAC>GAT	p.D667D	PCDH20_uc010thj.1_Silent_p.D667D	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	640	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCGTCCAGCGTCAGCATCTG	0.448		NA											29	49					0	0	0	0
KLHL1	57626	broad.mit.edu	37	13	70456525	70456525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:70456525C>A	uc001vip.2	-	5	1911	c.1117G>T	c.(1117-1119)GAA>TAA	p.E373*	KLHL1_uc010thm.1_Nonsense_Mutation_p.E312*	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	373					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGATGGTTTCTTCATCAGGA	0.418		NA											9	43					0.000274275	0.000849994	1	0
TPPP2	122664	broad.mit.edu	37	14	21500154	21500154	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:21500154C>A	uc001vzh.2	+	4	619	c.431C>A	c.(430-432)GCG>GAG	p.A144E	NDRG2_uc010tll.1_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family	144						cytoplasm					0	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGGGCATTGCGGGACGGGAA	0.537		NA											18	45					1.34e-09	4.44e-09	1	0
MUDENG	55745	broad.mit.edu	37	14	57741500	57741500	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:57741500G>A	uc001xcv.2	+	2	1040	c.613G>A	c.(613-615)GGA>AGA	p.G205R	MUDENG_uc001xcu.3_Missense_Mutation_p.G205R|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.G102R	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	205	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						GACGTACAAAGGAAAACCACA	0.373		NA											13	37					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92470836	92470836	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:92470836A>C	uc001xzy.2	-	11	4272	c.3484T>G	c.(3484-3486)TTA>GTA	p.L1162V	TRIP11_uc010auf.1_Missense_Mutation_p.L898V	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1162	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		ATACGTGATAAATTCTGAATA	0.343		NA	T	PDGFRB	AML								20	23					0	0	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206647	104206647	+	Silent	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:104206647G>C	uc001yof.1	-	12	2389	c.2106C>G	c.(2104-2106)CCC>CCG	p.P702P	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P569P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	702	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCAGGGGCCGGGGCGCGTTGG	0.667		NA											40	92					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28483835	28483835	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:28483835C>T	uc001zbj.2	-	24	3767	c.3661G>A	c.(3661-3663)GAT>AAT	p.D1221N		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1221	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCCTCCATCTTTATTATGG	0.378		NA											22	36					0	0	0	0
SPTBN5	51332	broad.mit.edu	37	15	42150939	42150939	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:42150939G>A	uc001zos.2	-	49	8315	c.7982C>T	c.(7981-7983)GCG>GTG	p.A2661V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2696	Spectrin 24.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCAGCCACGCAGCCACCTG	0.622		NA											6	7					0	0	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42437772	42437772	+	Splice_Site	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:42437772C>A	uc001zoz.2	-	16	1843	c.1780_splice	c.e16+1	p.D594_splice	PLA2G4F_uc010bcq.2_Intron|PLA2G4F_uc001zoy.2_Splice_Site_p.D226_splice|PLA2G4F_uc010bcr.2_Splice_Site_p.D345_splice|PLA2G4F_uc001zpa.2_Splice_Site_p.D345_splice|PLA2G4F_uc010bcs.2_Splice_Site_p.D381_splice	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF						phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTACCCTCACCTGTGATATT	0.602		NA											17	102					5.35e-07	1.73e-06	1	0
PTPN9	5780	broad.mit.edu	37	15	75798125	75798125	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:75798125T>C	uc002bal.2	-	7	1367	c.859A>G	c.(859-861)ACC>GCC	p.T287A		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	287						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						TCTTGGATGGTCATAGCATGG	0.502		NA											3	65					0	0	0	0
RASGRF1	5923	broad.mit.edu	37	15	79317766	79317766	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:79317766G>A	uc002beq.2	-	10	1807	c.1432C>T	c.(1432-1434)CGC>TGC	p.R478C	RASGRF1_uc002bep.2_Missense_Mutation_p.R478C|RASGRF1_uc010blm.1_Missense_Mutation_p.R400C|RASGRF1_uc002ber.3_Missense_Mutation_p.R478C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	478	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GACCCCAGGCGCCCCCTGGTG	0.557		NA											25	43					0	0	0	0
AEN	64782	broad.mit.edu	37	15	89169644	89169644	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:89169644C>T	uc002bmt.2	+	2	355	c.204C>T	c.(202-204)TTC>TTT	p.F68F	AEN_uc010bnl.2_Silent_p.F68F|AEN_uc010bnm.1_Silent_p.F68F	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	68					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						CCACCCCTTTCGGGGCAGCGA	0.652		NA											7	18					0	0	0	0
CHD2	1106	broad.mit.edu	37	15	93563349	93563349	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:93563349G>T	uc002bsp.2	+	38	5589	c.5014G>T	c.(5014-5016)GAC>TAC	p.D1672Y	CHD2_uc002bso.1_Missense_Mutation_p.D1672Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1672					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTGGTACAAGGACCACCATTA	0.527		NA											11	27					1.05e-09	3.51e-09	1	0
NKD1	85407	broad.mit.edu	37	16	50667423	50667423	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:50667423G>A	uc002egg.1	+	10	1368	c.1144G>A	c.(1144-1146)GCC>ACC	p.A382T		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	382					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTCCCCCTCCGCCCACCTGGC	0.716		NA											7	15					0	0	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58202514	58202514	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:58202514C>T	uc002enc.2	-	6	655	c.513G>A	c.(511-513)AAG>AAA	p.K171K		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	171	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTAATGGTACCTTTTTCTGTT	0.463		NA											23	27					0	0	0	0
BCMO1	53630	broad.mit.edu	37	16	81301576	81301576	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:81301576G>A	uc002fgn.1	+	6	901	c.683G>A	c.(682-684)CGC>CAC	p.R228H	BCMO1_uc010vnp.1_Missense_Mutation_p.R159H	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	228					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						ATCCCATCCCGCTCCCTGCTC	0.527		NA											27	48					0	0	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643837	88643837	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:88643837C>T	uc002fky.2	+	2	506	c.306C>T	c.(304-306)GAC>GAT	p.D102D	ZC3H18_uc010voy.1_Intron|ZC3H18_uc010voz.1_Silent_p.D102D|ZC3H18_uc010vpa.1_Silent_p.D102D	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	102						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGGAGGGGGACGAAGGGGAGG	0.617		NA											11	17					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:7578454G>A	uc002gim.2	-	5	670	c.476C>T	c.(475-477)GCC>GTC	p.A159V	TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)		GATGGCCATGGCGCGGACGCG	0.627		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)			19	22					0	0	0	0
KRT33B	3884	broad.mit.edu	37	17	39521652	39521652	+	Missense_Mutation	SNP	C	C	T	rs148300082	byFrequency	TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:39521652C>T	uc002hwl.2	-	4	787	c.742G>A	c.(742-744)GCC>ACC	p.A248T		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.627		NA											7	41					0	0	0	0
SDK2	54549	broad.mit.edu	37	17	71395327	71395327	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:71395327G>A	uc010dfm.2	-	22	3073	c.3073C>T	c.(3073-3075)CGC>TGC	p.R1025C	SDK2_uc002jjt.3_Missense_Mutation_p.R184C|SDK2_uc010dfn.2_Missense_Mutation_p.R704C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1025	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						ACCAGCCAGCGGGAGATGGAG	0.632		NA											15	24					0	0	0	0
RBBP8	5932	broad.mit.edu	37	18	20555133	20555133	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr18:20555133C>G	uc002ktw.2	+	6	710	c.379C>G	c.(379-381)CTA>GTA	p.L127V	RBBP8_uc002kty.2_Missense_Mutation_p.L127V|RBBP8_uc002ktz.2_Missense_Mutation_p.L127V|RBBP8_uc002kua.2_Missense_Mutation_p.L127V|RBBP8_uc002ktx.1_Missense_Mutation_p.L127V	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	127	Potential.				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAGGAATACTCTACAGGAAGA	0.269		NA						Direct_reversal_of_damage|Homologous_recombination					5	11					0	0	0	0
PDE4C	5143	broad.mit.edu	37	19	18329002	18329002	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:18329002G>A	uc010xqc.1	-	11	1767	c.1287C>T	c.(1285-1287)GAC>GAT	p.D429D	PDE4C_uc002nik.3_Silent_p.D429D|PDE4C_uc002nil.3_Silent_p.D429D|PDE4C_uc002nif.3_Silent_p.D198D|PDE4C_uc002nig.3_Silent_p.D144D|PDE4C_uc002nih.3_Silent_p.D199D|PDE4C_uc010ebk.2_Silent_p.D323D|PDE4C_uc002nii.3_Silent_p.D397D|PDE4C_uc010ebl.2_Silent_p.D143D|PDE4C_uc010xqd.1_Silent_p.D198D	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	429		Divalent metal cation 1.|cAMP (By similarity).|Divalent metal cation 2.			signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	GATGGTCCACGTCGTGGATGG	0.592		NA											20	41					0	0	0	0
MLL4	9757	broad.mit.edu	37	19	36217142	36217142	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:36217142T>C	uc010eei.2	+	15	3891	c.3891T>C	c.(3889-3891)TGT>TGC	p.C1297C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1297	PHD-type 2.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGATCTGTTCAGCCTGTG	0.597		NA											5	32					0	0	0	0
ZNF829	374899	broad.mit.edu	37	19	37382576	37382576	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:37382576T>C	uc002ofa.1	-	6	1479	c.1117A>G	c.(1117-1119)ATC>GTC	p.I373V	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	373	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGTATGGATTCTCTGATGT	0.373		NA											9	19					0	0	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224848	42224848	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:42224848C>A	uc002ork.2	+	8	1899	c.1778C>A	c.(1777-1779)CCG>CAG	p.P593Q	CEACAM5_uc002orj.1_Missense_Mutation_p.P592Q|CEACAM5_uc002orl.2_Missense_Mutation_p.P593Q	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	593	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAGATGGGCCGGACACCCCC	0.552		NA											33	141					2.81e-11	9.55e-11	1	0
SULT2A1	6822	broad.mit.edu	37	19	48374806	48374806	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:48374806T>G	uc002phr.2	-	6	904	c.764A>C	c.(763-765)AAA>ACA	p.K255T		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	255					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GAAGTGATTTTTCCAGTCCCC	0.478		NA											3	58					0	0	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958379	50958379	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:50958379C>T	uc002psf.2	+	19	2080	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	677	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTCGTAGAGCGGAAGAAGAA	0.572		NA											11	27					0	0	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824407	55824407	+	Silent	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:55824407G>T	uc010esw.1	-	8	695	c.522C>A	c.(520-522)GCC>GCA	p.A174A	TMEM150B_uc010yfu.1_Silent_p.A174A|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	174	Helical; (Potential).					integral to membrane					0						GCAGCGAGCAGGCGTGGAGGA	0.677		NA											8	9					5.18e-06	1.65e-05	1	0
TMEM150B	284417	broad.mit.edu	37	19	55824419	55824419	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:55824419G>A	uc010esw.1	-	8	683	c.510C>T	c.(508-510)ATC>ATT	p.I170I	TMEM150B_uc010yfu.1_Silent_p.I170I|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	170	Helical; (Potential).					integral to membrane					0						CGTGGAGGACGATCACTGCCC	0.677		NA											6	7					0	0	0	0
ZNF835	90485	broad.mit.edu	37	19	57175695	57175695	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:57175695G>A	uc010ygo.1	-	2	938	c.938C>T	c.(937-939)GCG>GTG	p.A313V	ZNF835_uc010ygn.1_Missense_Mutation_p.A291V	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GGTCAGGTGCGCGATCTGCGC	0.697		NA											6	9					0	0	0	0
USP29	57663	broad.mit.edu	37	19	57640091	57640091	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:57640091G>T	uc002qny.2	+	4	404	c.48G>T	c.(46-48)AAG>AAT	p.K16N		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	16					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGCCAGAAGACTGGGATGA	0.348		NA											9	21					7.48e-07	2.4e-06	1	0
GRHL1	29841	broad.mit.edu	37	2	10104143	10104143	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:10104143G>A	uc002raa.2	+	6	1046	c.875G>A	c.(874-876)GGA>GAA	p.G292E	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.G103E|GRHL1_uc010yjb.1_Missense_Mutation_p.G141E	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	292					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AGCAGTGAAGGAATCCATCAT	0.473		NA											8	55					0	0	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469959	25469959	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:25469959C>T	uc002rgc.2	-	9	1340	c.1083G>A	c.(1081-1083)AAG>AAA	p.K361K	DNMT3A_uc002rgd.2_Silent_p.K361K|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.K172K	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	361	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGGGCTGCTTGTTGTACG	0.597		NA	Mis|F|N|S		AML								16	26					0	0	0	0
SLC5A6	8884	broad.mit.edu	37	2	27430151	27430151	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:27430151C>T	uc002rjd.2	-	3	759	c.368G>A	c.(367-369)CGC>CAC	p.R123H	SLC5A6_uc010eyv.1_Missense_Mutation_p.R123H|SLC5A6_uc002rje.1_Missense_Mutation_p.R123H	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	123					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GAGATGCAGGCGGTAGAAAAC	0.557		NA											14	29					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166904235	166904235	+	Missense_Mutation	SNP	G	G	T	rs121917923		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:166904235G>T	uc010zcz.1	-	8	1090	c.1072C>A	c.(1072-1074)CCC>ACC	p.P358T	SCN1A_uc002udo.3_Missense_Mutation_p.P227T|SCN1A_uc010fpk.2_Missense_Mutation_p.P227T	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	358	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCATAATTGGGATTTCTACCA	0.408		NA											24	68					9.86e-18	3.48e-17	1	0
SCN7A	6332	broad.mit.edu	37	2	167298060	167298060	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:167298060C>A	uc002udu.1	-	14	2130	c.2003G>T	c.(2002-2004)CGC>CTC	p.R668L	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	668					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CATGTGCCAGCGTGGGAGTTG	0.458		NA											15	46					6.5e-13	2.25e-12	1	0
TTN	7273	broad.mit.edu	37	2	179474008	179474008	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:179474008G>C	uc010zfg.1	-	222	44549	c.44325C>G	c.(44323-44325)GAC>GAG	p.D14775E	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8470E|TTN_uc010zfi.1_Missense_Mutation_p.D8403E|TTN_uc010zfj.1_Missense_Mutation_p.D8278E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15702							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)			ACAGACCATGGTCAGGTCGGA	0.433		NA											11	23					0	0	0	0
TMEFF2	23671	broad.mit.edu	37	2	192922424	192922424	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:192922424C>T	uc002utc.2	-	5	911	c.517G>A	c.(517-519)GAA>AAA	p.E173K		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	173	Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCGGCATCTTCGTCACATTCT	0.378		NA											24	43					0	0	0	0
FN1	2335	broad.mit.edu	37	2	216240367	216240367	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:216240367T>G	uc002vfa.2	-	37	6228	c.5962A>C	c.(5962-5964)ATC>CTC	p.I1988L	FN1_uc002vfb.2_Missense_Mutation_p.I1807L|FN1_uc002vfc.2_Missense_Mutation_p.I1807L|FN1_uc002vfd.2_Missense_Mutation_p.I1988L|FN1_uc002vfe.2_Missense_Mutation_p.I1897L|FN1_uc002vff.2_Missense_Mutation_p.I1897L|FN1_uc002vfg.2_Missense_Mutation_p.I1807L|FN1_uc002vfh.2_Missense_Mutation_p.I1807L|FN1_uc002vfi.2_Missense_Mutation_p.I1988L|FN1_uc002vfj.2_Missense_Mutation_p.I1898L|FN1_uc002vez.2_Missense_Mutation_p.I182L|FN1_uc010zjp.1_Missense_Mutation_p.I525L|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.I350L|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1897	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 14.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGCGTCGATGACCACAGGG	0.428		NA											27	48					0	0	0	0
C20orf12	55184	broad.mit.edu	37	20	18433269	18433269	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr20:18433269C>T	uc010zsa.1	-	6	799	c.590G>A	c.(589-591)CGC>CAC	p.R197H	C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.A28T|C20orf12_uc002wqq.3_Missense_Mutation_p.R178H|C20orf12_uc002wqu.1_Intron|C20orf12_uc010gct.1_Intron	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	Error:Variant_position_missing_in_Q9NVP4_after_alignment						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				CTGGGACTGGCGGGTGGGTGG	0.433		NA											3	5					0	0	0	0
SPATA2	9825	broad.mit.edu	37	20	48523004	48523004	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr20:48523004C>T	uc010gie.2	-	3	1065	c.715G>A	c.(715-717)GCC>ACC	p.A239T	SPATA2_uc002xuw.2_Missense_Mutation_p.A239T|SPATA2_uc010zyn.1_Missense_Mutation_p.A102T	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	239					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGTCCTTGGCCGCCCGCTCG	0.677		NA											17	35					0	0	0	0
OR5H2	79310	broad.mit.edu	37	3	98002593	98002593	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:98002593C>G	uc003dsj.1	+	1	862	c.862C>G	c.(862-864)CCT>GCT	p.P288A		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						AATCATAATTCCTTTGCTAAA	0.318		NA											12	46					0	0	0	0
COPG	22820	broad.mit.edu	37	3	128993713	128993713	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:128993713C>T	uc003els.2	+	22	2389	c.2289C>T	c.(2287-2289)CAC>CAT	p.H763H	COPG_uc010htb.2_Silent_p.H669H	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	763	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						TAGCTGATCACATTCAAAAGG	0.483		NA											100	85					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130292872	130292872	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:130292872A>C	uc010htl.2	+	7	3081	c.3050A>C	c.(3049-3051)AAG>ACG	p.K1017T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1017	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AATGACTTCAAGAAAATGAAG	0.408		NA											11	47					0	0	0	0
TNK2	10188	broad.mit.edu	37	3	195594350	195594350	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:195594350G>C	uc003fvu.1	-	12	3317	c.2774C>G	c.(2773-2775)ACC>AGC	p.T925S	TNK2_uc003fvq.1_Missense_Mutation_p.T332S|TNK2_uc003fvr.1_Missense_Mutation_p.T450S|TNK2_uc003fvs.1_Missense_Mutation_p.T957S|TNK2_uc003fvt.1_Missense_Mutation_p.T1003S|TNK2_uc010hzw.1_RNA	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	925	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCTGTTGTTGGTGGAGAAGTT	0.537		NA											14	12					0	0	0	0
LIMCH1	22998	broad.mit.edu	37	4	41699182	41699182	+	Missense_Mutation	SNP	G	G	T	rs142431467		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:41699182G>T	uc003gvu.3	+	27	3286	c.3232G>T	c.(3232-3234)GGG>TGG	p.G1078W	LIMCH1_uc003gvv.3_Missense_Mutation_p.G1052W|LIMCH1_uc003gvw.3_Missense_Mutation_p.G1051W|LIMCH1_uc003gvx.3_Missense_Mutation_p.G1064W|LIMCH1_uc003gwe.3_Missense_Mutation_p.G975W|LIMCH1_uc003gvy.3_Missense_Mutation_p.G880W|LIMCH1_uc003gwa.3_Missense_Mutation_p.G892W|LIMCH1_uc003gvz.3_Missense_Mutation_p.G1462W|LIMCH1_uc011byu.1_Missense_Mutation_p.G911W|LIMCH1_uc003gwc.3_Missense_Mutation_p.G897W|LIMCH1_uc003gwd.3_Missense_Mutation_p.G885W|LIMCH1_uc011byv.1_Missense_Mutation_p.G828W|LIMCH1_uc011byw.1_Missense_Mutation_p.G351W|LIMCH1_uc010ifv.2_RNA	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	1078					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CACAGGTGCCGGGCAGCCTAC	0.453		NA											21	71					7.88e-20	2.81e-19	1	0
EPHA5	2044	broad.mit.edu	37	4	66361109	66361109	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:66361109T>C	uc003hcy.2	-	4	1256	c.1063A>G	c.(1063-1065)ACA>GCA	p.T355A	EPHA5_uc003hcx.2_Missense_Mutation_p.T286A|EPHA5_uc003hcz.2_Missense_Mutation_p.T355A|EPHA5_uc011cah.1_Missense_Mutation_p.T355A|EPHA5_uc011cai.1_Missense_Mutation_p.T355A|EPHA5_uc003hda.2_Missense_Mutation_p.T355A	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	355	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TCCTTACTTGTGCATGCCATT	0.438		NA								TSP Lung(17;0.13)			62	87					0	0	0	0
ANTXR2	118429	broad.mit.edu	37	4	80993706	80993706	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:80993706C>T	uc003hlz.3	-	1	772	c.9G>A	c.(7-9)GCG>GCA	p.A3A	ANTXR2_uc003hly.3_Silent_p.A3A|ANTXR2_uc003hlx.1_5'Flank|ANTXR2_uc010ijn.2_Silent_p.A3A	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	anthrax toxin receptor 2 isoform 2	3						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			ovary(1)	1						GGGACCGCTCCGCCACCATCC	0.746		NA							Juvenile_Hyaline_Fibromatosis				5	5					0	0	0	0
UNC5C	8633	broad.mit.edu	37	4	96141216	96141216	+	Missense_Mutation	SNP	C	C	T	rs150089453		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:96141216C>T	uc003htp.1	-	8	1374	c.1220G>A	c.(1219-1221)CGT>CAT	p.R407H	UNC5C_uc010ilc.1_Missense_Mutation_p.R426H|UNC5C_uc003htq.2_Missense_Mutation_p.R426H	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	407	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCAAAGTCACGATGATTCTT	0.458		NA											20	44					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187584693	187584693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:187584693G>A	uc003izf.2	-	3	3528	c.3340C>T	c.(3340-3342)CAG>TAG	p.Q1114*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1114	Extracellular (Potential).|Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ACGACACCCTGATCGGTTGCA	0.448		NA								HNSCC(5;0.00058)			27	53					0	0	0	0
RAB3C	115827	broad.mit.edu	37	5	57913562	57913562	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:57913562C>A	uc003jrp.2	+	2	214	c.117C>A	c.(115-117)AGC>AGA	p.S39R		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	39	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TCGGCAATAGCAGTGTGGGGA	0.428		NA											12	41					0.000978159	0.00298907	1	0
ANKRD32	84250	broad.mit.edu	37	5	94027884	94027884	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:94027884T>C	uc003kkr.3	+	20	2698	c.2618T>C	c.(2617-2619)GTG>GCG	p.V873A	ANKRD32_uc003kks.2_Missense_Mutation_p.V237A	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	873										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTCACTCAAGTGGACGGGGTG	0.493		NA											23	61					0	0	0	0
SMAD5	4090	broad.mit.edu	37	5	135513140	135513140	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:135513140C>T	uc003lbj.1	+	11	1814	c.1370C>T	c.(1369-1371)CCT>CTT	p.P457L	SMAD5_uc003lbk.1_Missense_Mutation_p.P457L|SMAD5_uc003lbl.1_Missense_Mutation_p.P457L	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	457	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGGCTCCCCTCTGAACCCC	0.398		NA											5	12					0	0	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784241	140784241	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:140784241T>C	uc003lkh.1	+	1	1722	c.1722T>C	c.(1720-1722)GGT>GGC	p.G574G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.G574G	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	574	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTACTGGTGTGGAGCTGG	0.562		NA											43	114					0	0	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148899953	148899953	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:148899953T>C	uc003lqx.1	-	4	838	c.358_splice	c.e4-1	p.M120_splice	CSNK1A1_uc011dcb.1_Splice_Site_p.M1_splice|CSNK1A1_uc011dcc.1_Splice_Site_p.M31_splice|CSNK1A1_uc003lqv.1_Splice_Site_p.M31_splice|CSNK1A1_uc003lqw.1_Splice_Site_p.M120_splice|CSNK1A1_uc003lqy.1_Splice_Site_p.M120_splice|CSNK1A1_uc010jha.1_Splice_Site_p.M120_splice	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2						cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACTGATCATCTGGAAAAAAAA	0.303		NA											20	28					0	0	0	0
GALNT10	55568	broad.mit.edu	37	5	153789255	153789255	+	Missense_Mutation	SNP	C	C	T	rs147745456		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:153789255C>T	uc003lvh.2	+	9	1451	c.1319C>T	c.(1318-1320)ACG>ATG	p.T440M	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.T281M|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.T111M	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	440	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggTTTATGACGAAGATAGCC	0.303		NA											35	81					0	0	0	0
DOCK2	1794	broad.mit.edu	37	5	169474561	169474561	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:169474561C>A	uc003maf.2	+	40	4094	c.4014C>A	c.(4012-4014)CCC>CCA	p.P1338P	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.P830P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1338	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCAGGCCCAAACCAGACT	0.498		NA											10	45					0.000673444	0.00207724	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171809084	171809084	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:171809084C>A	uc003mbr.2	-	5	528	c.357G>T	c.(355-357)CTG>CTT	p.L119L	SH3PXD2B_uc003mbs.1_Silent_p.L119L	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	119	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAAGAACTGCAGCACCTCAT	0.547		NA											9	14					0.000978159	0.00298907	1	0
RREB1	6239	broad.mit.edu	37	6	7229324	7229324	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:7229324T>G	uc003mxc.2	+	10	1382	c.992T>G	c.(991-993)CTG>CGG	p.L331R	RREB1_uc003mxb.2_Missense_Mutation_p.L331R|RREB1_uc010jnx.2_Missense_Mutation_p.L331R	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	331	C2H2-type 6.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCTGCTCACTGGCTCTGCAC	0.607		NA											16	21					0	0	0	0
ZNRD1	30834	broad.mit.edu	37	6	30029436	30029436	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:30029436C>A	uc003noz.2	+	2	285	c.135C>A	c.(133-135)ATC>ATA	p.I45I	NCRNA00171_uc011dme.1_5'Flank|NCRNA00171_uc003nox.1_5'Flank|NCRNA00171_uc003rto.2_5'Flank|ZNRD1_uc003npa.2_Silent_p.I45I	NM_014596	NP_055411	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	45						nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding				0						GCTTCAACATCAACGTTCGGG	0.602		NA											14	68					6.32e-08	2.08e-07	1	0
CSNK2B	1460	broad.mit.edu	37	6	31636415	31636415	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:31636415G>A	uc003nvr.1	+	4	615	c.275G>A	c.(274-276)CGT>CAT	p.R92H	BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_3'UTR|CSNK2B_uc003nvs.1_Missense_Mutation_p.R92H|LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	92					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding				0						CTTACCAACCGTGGCATCGCC	0.537		NA											21	35					0	0	0	0
KIAA1919	91749	broad.mit.edu	37	6	111583600	111583600	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:111583600C>A	uc003puv.3	+	2	590	c.168C>A	c.(166-168)GTC>GTA	p.V56V		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	56	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GATTTCTTGTCGATGTCATGA	0.348		NA											39	85					1.16e-17	4.06e-17	1	0
RAC1	5879	broad.mit.edu	37	7	6426850	6426850	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:6426850G>A	uc003spx.2	+	2	284	c.43G>A	c.(43-45)GGT>AGT	p.G15S	RAC1_uc003spw.2_Missense_Mutation_p.G15S	NM_006908	NP_008839	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	15	GTP (By similarity).				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			lung(2)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TAGAGCTGTAGGTAAAACTTG	0.318		NA											23	70					0	0	0	0
CPVL	54504	broad.mit.edu	37	7	29035468	29035468	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:29035468G>A	uc003szv.2	-	13	1470	c.1351C>T	c.(1351-1353)CCC>TCC	p.P451S	CPVL_uc003szw.2_Missense_Mutation_p.P451S|CPVL_uc003szx.2_Missense_Mutation_p.P451S	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	451					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TGGTCATAGGGTAAAATATGT	0.333		NA											14	21					0	0	0	0
LMTK2	22853	broad.mit.edu	37	7	97821070	97821070	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:97821070G>A	uc003upd.1	+	11	1586	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	431					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTCTGAAGCCGAACACAAACA	0.577		NA											14	40					0	0	0	0
FSCN3	29999	broad.mit.edu	37	7	127235813	127235813	+	Missense_Mutation	SNP	G	G	C	rs150163324		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:127235813G>C	uc003vmd.1	+	2	816	c.597G>C	c.(595-597)TTG>TTC	p.L199F	FSCN3_uc003vmc.1_Missense_Mutation_p.L154F|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.L65F|FSCN3_uc010llc.1_Missense_Mutation_p.L199F	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	199						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						ACCACTTCTTGTCCCATGTAG	0.562		NA											21	61					0	0	0	0
C7orf49	78996	broad.mit.edu	37	7	134853603	134853603	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:134853603C>G	uc003vsl.2	-	2	339	c.72G>C	c.(70-72)AAG>AAC	p.K24N	C7orf49_uc003vsh.2_Missense_Mutation_p.E10Q|C7orf49_uc003vsj.2_5'Flank|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.E10Q|C7orf49_uc003vso.2_Intron	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	24						cytoplasm				large_intestine(1)|ovary(1)	2						GTGCCACATTCTTTGTAGCCA	0.532		NA									OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	134					0	0	0	0
FGFR1	2260	broad.mit.edu	37	8	38283759	38283759	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:38283759C>T	uc003xlp.2	-	6	1568	c.626G>A	c.(625-627)CGT>CAT	p.R209H	FGFR1_uc011lbo.1_Missense_Mutation_p.R207H|FGFR1_uc011lbp.1_Missense_Mutation_p.R120H|FGFR1_uc011lbq.1_Missense_Mutation_p.R118H|FGFR1_uc010lwk.2_Missense_Mutation_p.R201H|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.R49H|FGFR1_uc011lbt.1_Missense_Mutation_p.R118H|FGFR1_uc011lbu.1_Missense_Mutation_p.R240H|FGFR1_uc011lbv.1_Missense_Mutation_p.R207H|FGFR1_uc011lbw.1_Missense_Mutation_p.R120H|FGFR1_uc011lbx.1_Missense_Mutation_p.R120H|FGFR1_uc003xlv.2_Missense_Mutation_p.R120H|FGFR1_uc003xlu.2_Missense_Mutation_p.R118H|FGFR1_uc003xlw.1_RNA	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	209	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGTGGCATAACGGACCTGAGG	0.542		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						49	143					0	0	0	0
ADAM2	2515	broad.mit.edu	37	8	39624564	39624564	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:39624564T>C	uc003xnj.2	-	14	1387	c.1312_splice	c.e14-1	p.F438_splice	ADAM2_uc003xnk.2_Splice_Site_p.F419_splice|ADAM2_uc011lck.1_Splice_Site_p.F438_splice|ADAM2_uc003xnl.2_Splice_Site_p.F312_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGACATAAACTGATGGGATGA	0.333		NA											31	60					0	0	0	0
ST18	9705	broad.mit.edu	37	8	53055565	53055565	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:53055565T>A	uc003xqz.2	-	12	2249	c.2093A>T	c.(2092-2094)AAG>ATG	p.K698M	ST18_uc011ldq.1_Missense_Mutation_p.K345M|ST18_uc011ldr.1_Missense_Mutation_p.K663M|ST18_uc011lds.1_Missense_Mutation_p.K603M|ST18_uc003xra.2_Missense_Mutation_p.K698M	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	698						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGAAACTTTTTTTCCTC	0.408		NA											20	53					0	0	0	0
GLI4	2738	broad.mit.edu	37	8	144358450	144358450	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:144358450C>T	uc003yxx.2	+	4	692	c.607C>T	c.(607-609)CGC>TGC	p.R203C	ZFP41_uc003yxv.2_RNA	NM_138465	NP_612474	P10075	GLI4_HUMAN	GLI-Kruppel family member GLI4	203	C2H2-type 1.					nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GAAGCACCAGCGCATCCACAC	0.687		NA											6	15					0	0	0	0
C9orf150	286343	broad.mit.edu	37	9	12775787	12775787	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr9:12775787G>T	uc003zkw.2	+	1	776	c.73G>T	c.(73-75)GTG>TTG	p.V25L		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	25											0				GBM - Glioblastoma multiforme(1;1.64e-13)		CGAGAGTCTAGTGCGCTCTCT	0.498		NA											7	22					0.00198382	0.00597875	1	0
MXRA5	25878	broad.mit.edu	37	X	3228388	3228388	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:3228388C>A	uc004crg.3	-	7	8013	c.7856G>T	c.(7855-7857)CGC>CTC	p.R2619L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2619	Ig-like C2-type 10.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGCGGCATTGCGGGCCACGCA	0.597		NA											22	6					2.98e-07	9.75e-07	1	0
GRPR	2925	broad.mit.edu	37	X	16168686	16168686	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:16168686G>A	uc004cxj.2	+	2	1325	c.672G>A	c.(670-672)TCG>TCA	p.S224S		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	224	Helical; Name=5; (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity	p.S224S(1)		ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					TTCCACTGTCGATCATCTCTG	0.438		NA											5	48					0	0	0	0
SLC25A14	9016	broad.mit.edu	37	X	129479183	129479183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:129479183G>T	uc004evn.1	+	3	316	c.103G>T	c.(103-105)GAG>TAG	p.E35*	SLC25A14_uc011mut.1_5'UTR|SLC25A14_uc011muu.1_Nonsense_Mutation_p.E35*|SLC25A14_uc010nrg.2_Nonsense_Mutation_p.E32*|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Nonsense_Mutation_p.E35*|SLC25A14_uc004evq.1_Nonsense_Mutation_p.E32*|SLC25A14_uc004evr.1_Nonsense_Mutation_p.E32*	NM_003951	NP_003942	O95258	UCP5_HUMAN	solute carrier family 25, member 14 isoform	35					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			ovary(1)	1						TGTAAGTCATGAGATGTCTGG	0.388		NA											35	19					1.27e-14	4.4e-14	1	0
FGF13	2258	broad.mit.edu	37	X	137715118	137715118	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:137715118C>T	uc004fam.2	-	5	1293	c.631G>A	c.(631-633)GAT>AAT	p.D211N	FGF13_uc004fan.2_Missense_Mutation_p.D158N|FGF13_uc011mwi.1_Missense_Mutation_p.D192N|FGF13_uc004faq.2_Missense_Mutation_p.D221N|FGF13_uc004far.2_Missense_Mutation_p.D192N|FGF13_uc011mwj.1_Missense_Mutation_p.D221N|FGF13_uc011mwk.1_Missense_Mutation_p.D165N	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	211					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAGATCGTGCAGTGAT	0.468		NA											40	14					0	0	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10225151	10225152	+	Frame_Shift_Del	DEL	AT	AT	-	rs151191595		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:10225151_10225152delAT	uc002mna.2	+	13	2122_2123	c.2122_2123delAT	c.(2122-2124)ATAfs	p.I708fs	PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Frame_Shift_Del_p.I288fs	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	Error:Variant_position_missing_in_Q9NQ55_after_alignment					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTTTGCAGACATAGCCCAGGCC	0.658		NA											21	20	---	---	---	---	NA	NA	NA	NA
SERPINE1	5054	broad.mit.edu	37	7	100777046	100777047	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:100777046_100777047insA	uc003uxt.2	+	5	919_920	c.771_772insA	c.(769-774)AGCATGfs	p.S257fs	SERPINE1_uc011kkj.1_Frame_Shift_Ins_p.S242fs|SERPINE1_uc003uxu.1_Frame_Shift_Ins_p.S88fs	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	257_258					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	ACACCCTCAGCATGTTCATTGC	0.54		NA											20	56	---	---	---	---	NA	NA	NA	NA
