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	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	filter
TPRG1L	127262	broad.mit.edu	37	1	3544178	3544178	+	Silent	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3544178G>T	uc001akm.2	+	4	666	c.585G>T	c.(583-585)CCG>CCT	p.P195P	TPRG1L_uc009vlj.2_Silent_p.P136P	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	195						cell junction|synaptic vesicle					0	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CAGAACACCCGATGGCTGGCG	0.532													13	49	---	---	---	---	PASS
KIAA0562	9731	broad.mit.edu	37	1	3739730	3739730	+	Intron	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3739730C>A	uc001aky.2	-						KIAA0562_uc010nzm.1_Intron	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,							centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		TCTCCCCAGGCCCCTCACCTC	0.547													76	72	---	---	---	---	PASS
PRDM2	7799	broad.mit.edu	37	1	14108874	14108874	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108874G>T	uc001avi.2	+	8	5440	c.4584G>T	c.(4582-4584)CAG>CAT	p.Q1528H	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.Q1528H|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.Q1327H|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1528						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAGCATGCAGACTCCGTTGG	0.537													27	23	---	---	---	---	PASS
MUL1	79594	broad.mit.edu	37	1	20827763	20827763	+	Missense_Mutation	SNP	T	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20827763T>G	uc001bdi.3	-	4	636	c.479A>C	c.(478-480)CAC>CCC	p.H160P		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	160	Mitochondrial intermembrane (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AATCGAGGGGTGGAACTTCTC	0.597													4	47	---	---	---	---	PASS
HIVEP3	59269	broad.mit.edu	37	1	41979252	41979252	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41979252C>A	uc001cgz.3	-	8	6853	c.5640G>T	c.(5638-5640)GAG>GAT	p.E1880D	HIVEP3_uc001cha.3_Missense_Mutation_p.E1880D|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1880					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCGGGGGCGCCTCTGAGGATG	0.652													13	9	---	---	---	---	PASS
TMEM125	128218	broad.mit.edu	37	1	43738664	43738664	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43738664G>A	uc001cir.2	+	4	841	c.271G>A	c.(271-273)GTG>ATG	p.V91M	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.V91M	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	91						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCTCGGCTGTGCAGGACAT	0.637													6	8	---	---	---	---	PASS
FAM159A	348378	broad.mit.edu	37	1	53108615	53108615	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53108615T>A	uc001cuf.2	+	2	363	c.263T>A	c.(262-264)CTG>CAG	p.L88Q	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	88	Helical; (Potential).					integral to membrane					0						CTCTGCTACCTGTTCATCAGC	0.522													6	110	---	---	---	---	PASS
IL12RB2	3595	broad.mit.edu	37	1	67861305	67861305	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67861305A>G	uc001ddu.2	+	16	2762	c.2122A>G	c.(2122-2124)AGT>GGT	p.S708G	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.S622G|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	708	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						GCTGGTCATCAGTGAAGTCCT	0.542													12	22	---	---	---	---	PASS
ASB17	127247	broad.mit.edu	37	1	76387906	76387906	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76387906G>T	uc001dhe.1	-	2	680	c.540C>A	c.(538-540)AAC>AAA	p.N180K	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	180					intracellular signal transduction					ovary(1)	1						TTAAGACAATGTTGATAGGGT	0.363													17	18	---	---	---	---	PASS
SSX2IP	117178	broad.mit.edu	37	1	85124070	85124070	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85124070G>C	uc001dkh.2	-	10	1284	c.1009C>G	c.(1009-1011)CAG>GAG	p.Q337E	SSX2IP_uc001dkf.2_Missense_Mutation_p.Q310E|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.Q310E|SSX2IP_uc001dki.2_Missense_Mutation_p.Q337E|SSX2IP_uc010osa.1_Missense_Mutation_p.Q310E|SSX2IP_uc001dkj.2_Missense_Mutation_p.Q337E|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.Q333E	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	337					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTGTAAGCTGCTCTCTCACA	0.428													13	21	---	---	---	---	PASS
GTF2B	2959	broad.mit.edu	37	1	89322963	89322963	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89322963C>A	uc001dmo.3	-	6	862	c.743G>T	c.(742-744)AGG>ATG	p.R248M		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	248	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GATGGGGCTCCTCCCAGGAAC	0.507													18	22	---	---	---	---	PASS
AGL	178	broad.mit.edu	37	1	100350190	100350190	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100350190G>T	uc001dsi.1	+	20	3012	c.2612G>T	c.(2611-2613)AGT>ATT	p.S871I	AGL_uc001dsj.1_Missense_Mutation_p.S871I|AGL_uc001dsk.1_Missense_Mutation_p.S871I|AGL_uc001dsl.1_Missense_Mutation_p.S871I|AGL_uc001dsm.1_Missense_Mutation_p.S855I|AGL_uc001dsn.1_Missense_Mutation_p.S854I	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	871	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ACACAATTCAGTCCTCACTTT	0.363													3	35	---	---	---	---	PASS
OLFM3	118427	broad.mit.edu	37	1	102296222	102296222	+	Intron	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:102296222A>G	uc001duf.2	-						OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_Intron	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3							extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGAAGTCAAACCTACCTGAA	0.423													30	53	---	---	---	---	PASS
COL11A1	1301	broad.mit.edu	37	1	103488510	103488510	+	Nonsense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103488510C>A	uc001dul.2	-	8	1351	c.1033G>T	c.(1033-1035)GGA>TGA	p.G345*	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.G357*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G306*|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	345	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAATCCTCTCCCGTTAGATAT	0.338													19	21	---	---	---	---	PASS
INSRR	3645	broad.mit.edu	37	1	156828411	156828411	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156828411C>T	uc010pht.1	-	1	257	c.3G>A	c.(1-3)ATG>ATA	p.M1I	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.M1I|NTRK1_uc001fqh.1_5'Flank|NTRK1_uc001fqi.1_5'Flank|NTRK1_uc009wsk.1_5'Flank	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGCACTGCCATTGTCCCAG	0.597													10	40	---	---	---	---	PASS
OR10Z1	128368	broad.mit.edu	37	1	158576496	158576496	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576496C>A	uc010pio.1	+	1	268	c.268C>A	c.(268-270)CAG>AAG	p.Q90K		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TGGGGGGGACCAGGCTATCTC	0.542													32	138	---	---	---	---	PASS
OR6N1	128372	broad.mit.edu	37	1	158736077	158736077	+	Nonsense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158736077G>T	uc010piq.1	-	1	396	c.396C>A	c.(394-396)TAC>TAA	p.Y132*		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGAGGGTTGGGTAGTGGAGGG	0.517													6	17	---	---	---	---	PASS
ATP1A4	480	broad.mit.edu	37	1	160151781	160151781	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160151781A>T	uc001fve.3	+	20	3408	c.2929A>T	c.(2929-2931)ACT>TCT	p.T977S	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.T480S|ATP1A4_uc001fvh.2_Missense_Mutation_p.T113S	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	977	Extracellular (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGTCCTACACTCCAGGCAT	0.532													38	85	---	---	---	---	PASS
FCRLB	127943	broad.mit.edu	37	1	161697367	161697367	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161697367G>A	uc001gbh.2	+	8	1430	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	FCRLB_uc009wus.2_Missense_Mutation_p.R399Q|FCRLB_uc001gbj.2_3'UTR|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_3'UTR|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.R399Q|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	399						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CAGGCCCTCCGGGAGCTCAGG	0.637													8	40	---	---	---	---	PASS
SELP	6403	broad.mit.edu	37	1	169586577	169586577	+	Missense_Mutation	SNP	C	A	A	rs7529463	byFrequency	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169586577C>A	uc001ggi.3	-	3	235	c.170G>T	c.(169-171)CGT>CTT	p.R57L	SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.R57L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	57	Extracellular (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCAGTATTTACGGGAAATATT	0.408													60	65	---	---	---	---	PASS
GAS5	60674	broad.mit.edu	37	1	173835446	173835446	+	Intron	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173835446T>C	uc001gji.2	-						GAS5_uc001gjj.2_Intron|GAS5_uc001gjk.2_Intron|SNORD81_uc009wwi.1_5'Flank|SNORD47_uc001gjl.2_5'Flank|SNORD80_uc009wwj.1_5'Flank|SNORD79_uc009wwk.1_5'Flank|SNORD78_uc009wwl.2_5'Flank|SNORD44_uc001gjn.1_5'Flank|ZBTB37_uc001gjp.1_5'Flank|ZBTB37_uc001gjq.3_5'Flank|ZBTB37_uc009wwp.1_5'Flank|ZBTB37_uc001gjr.2_5'Flank					Homo sapiens mRNA; cDNA DKFZp564D0164 (from clone DKFZp564D0164).												0						CCCAGATACATCAGACAGATA	0.313													7	52	---	---	---	---	PASS
TNR	7143	broad.mit.edu	37	1	175335252	175335252	+	Silent	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175335252G>T	uc001gkp.1	-	9	2157	c.2076C>A	c.(2074-2076)CTC>CTA	p.L692L	TNR_uc009wwu.1_Silent_p.L692L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	692	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CTGTCACCATGAGGTCTCGGG	0.517													18	22	---	---	---	---	PASS
PAPPA2	60676	broad.mit.edu	37	1	176668393	176668393	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176668393G>A	uc001gkz.2	+	8	4068	c.2904G>A	c.(2902-2904)CTG>CTA	p.L968L	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	968					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CCCTCACCCTGTGGGTCACTT	0.562													70	102	---	---	---	---	PASS
SEC16B	89866	broad.mit.edu	37	1	177906551	177906551	+	Silent	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177906551C>G	uc001gli.1	-	19	2391	c.2301G>C	c.(2299-2301)CTG>CTC	p.L767L	SEC16B_uc001glk.1_Silent_p.L444L|SEC16B_uc009wwy.1_Silent_p.L322L|SEC16B_uc001glh.1_Silent_p.L426L|SEC16B_uc009wwz.1_Silent_p.L426L|SEC16B_uc001glj.1_Silent_p.L768L	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	767					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						TGGGCTGGAGCAGGCAGGTCT	0.602													5	6	---	---	---	---	PASS
CEP350	9857	broad.mit.edu	37	1	180061849	180061849	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180061849G>T	uc001gnt.2	+	34	6992	c.6609G>T	c.(6607-6609)CAG>CAT	p.Q2203H	CEP350_uc009wxl.2_Missense_Mutation_p.Q2202H|CEP350_uc001gnv.2_Missense_Mutation_p.Q338H|CEP350_uc001gnw.1_5'UTR|CEP350_uc001gnx.1_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2203						centrosome|nucleus|spindle				ovary(4)	4						AAGATTTTCAGACCCCATCTC	0.383													3	6	---	---	---	---	PASS
CACNA1E	777	broad.mit.edu	37	1	181620509	181620509	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181620509G>A	uc001gow.2	+	7	1152	c.987G>A	c.(985-987)CTG>CTA	p.L329L	CACNA1E_uc009wxr.2_Silent_p.L236L|CACNA1E_uc009wxs.2_Silent_p.L236L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	329	I.|Helical; Name=S6 of repeat I.				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						GGAATTGGCTGTACTTCATCC	0.423													20	54	---	---	---	---	PASS
APOBEC4	403314	broad.mit.edu	37	1	183616857	183616857	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183616857T>C	uc001gqn.2	-	2	1332	c.1060A>G	c.(1060-1062)AGC>GGC	p.S354G	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	apolipoprotein B	354					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0						GCCTCCTTGCTACTTGCAAAC	0.408													4	139	---	---	---	---	PASS
FAM5C	339479	broad.mit.edu	37	1	190067323	190067323	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190067323C>T	uc001gse.1	-	8	2358	c.2126G>A	c.(2125-2127)CGT>CAT	p.R709H	FAM5C_uc010pot.1_Missense_Mutation_p.R607H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	709						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TTTATTTACACGGTCTCTGAT	0.488													28	35	---	---	---	---	PASS
NR5A2	2494	broad.mit.edu	37	1	200017815	200017815	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200017815C>A	uc001gvb.2	+	5	1185	c.979C>A	c.(979-981)CAG>AAG	p.Q327K	NR5A2_uc001gvc.2_Missense_Mutation_p.Q281K|NR5A2_uc009wzh.2_Missense_Mutation_p.Q287K|NR5A2_uc010pph.1_Missense_Mutation_p.Q255K	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	327					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					GGCCTATTTGCAGCAAGAGCA	0.498													23	40	---	---	---	---	PASS
IPO9	55705	broad.mit.edu	37	1	201825050	201825050	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201825050C>G	uc001gwz.2	+	10	1160	c.1110C>G	c.(1108-1110)ATC>ATG	p.I370M		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	370					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						ACATGCAAATCACTGAGGAGC	0.343													16	24	---	---	---	---	PASS
OPTC	26254	broad.mit.edu	37	1	203466142	203466142	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203466142G>T	uc001gzu.1	+	3	385	c.269G>T	c.(268-270)AGT>ATT	p.S90I		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	90	Ser/Thr-rich.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCAGCATCAGTCCCGCCAAG	0.547													5	17	---	---	---	---	PASS
CR1	1378	broad.mit.edu	37	1	207785395	207785395	+	Intron	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207785395G>C	uc001hfy.2	+						CR1_uc001hfx.2_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor						complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						GGGTGAGTGTGACCCAGCGTT	0.502													66	97	---	---	---	---	PASS
PLXNA2	5362	broad.mit.edu	37	1	208390374	208390374	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208390374G>A	uc001hgz.2	-	2	1652	c.894C>T	c.(892-894)TTC>TTT	p.F298F	PLXNA2_uc001hha.3_Silent_p.F352F	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	298	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGGTGCAGCCGAAGGGCAGGG	0.627													19	32	---	---	---	---	PASS
RCOR3	55758	broad.mit.edu	37	1	211447576	211447576	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:211447576A>T	uc001hig.2	+	3	321	c.152A>T	c.(151-153)AAG>ATG	p.K51M	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.K109M|RCOR3_uc010psw.1_Missense_Mutation_p.K109M|RCOR3_uc001hif.2_Missense_Mutation_p.K109M	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	51	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GCAATTGCAAAGGAAAAGCAT	0.313													10	12	---	---	---	---	PASS
ESRRG	2104	broad.mit.edu	37	1	216824386	216824386	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216824386G>T	uc001hkw.1	-	3	684	c.518C>A	c.(517-519)ACA>AAA	p.T173K	ESRRG_uc001hky.1_Missense_Mutation_p.T150K|ESRRG_uc009xdp.1_Missense_Mutation_p.T150K|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Missense_Mutation_p.T150K|ESRRG_uc001hla.1_Missense_Mutation_p.T150K|ESRRG_uc001hlb.1_Missense_Mutation_p.T150K|ESRRG_uc010pud.1_5'UTR|ESRRG_uc001hlc.1_Missense_Mutation_p.T150K|ESRRG_uc001hld.1_Missense_Mutation_p.T150K|ESRRG_uc001hkx.1_Missense_Mutation_p.T178K|ESRRG_uc009xdo.1_Missense_Mutation_p.T150K|ESRRG_uc001hle.1_Missense_Mutation_p.T150K	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	173	Nuclear receptor.|NR C4-type.				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTGCGCTTTGTGATTTCACA	0.428													14	50	---	---	---	---	PASS
C1orf55	163859	broad.mit.edu	37	1	226173095	226173095	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226173095G>A	uc001hpu.3	-	7	1317	c.1264C>T	c.(1264-1266)CGG>TGG	p.R422W	C1orf55_uc001hpv.2_3'UTR	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	422										lung(1)	1	Breast(184;0.197)					CTTGCTGCCCGCTCCTGCAGA	0.502													30	38	---	---	---	---	PASS
OBSCN	84033	broad.mit.edu	37	1	228433333	228433333	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228433333G>C	uc009xez.1	+	12	3745	c.3701G>C	c.(3700-3702)GGG>GCG	p.G1234A	OBSCN_uc001hsn.2_Missense_Mutation_p.G1234A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1234	Ig-like 12.				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)				GCAGATGCTGGGGAGTACAGC	0.522													12	42	---	---	---	---	PASS
URB2	9816	broad.mit.edu	37	1	229771178	229771178	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229771178A>T	uc001hts.1	+	4	954	c.818A>T	c.(817-819)AAC>ATC	p.N273I	URB2_uc009xfd.1_Missense_Mutation_p.N273I	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	273						nucleolus				central_nervous_system(2)|ovary(1)	3						GCCATGAAGAACCTTCTGGCT	0.547													20	28	---	---	---	---	PASS
SIPA1L2	57568	broad.mit.edu	37	1	232600782	232600782	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232600782C>A	uc001hvg.2	-	7	2782	c.2624G>T	c.(2623-2625)GGG>GTG	p.G875V	SIPA1L2_uc001hvf.2_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	875					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTGGAGATCCCGAGAAGACA	0.478													10	22	---	---	---	---	PASS
ACTN2	88	broad.mit.edu	37	1	236925901	236925901	+	Nonsense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236925901C>A	uc001hyf.2	+	21	2871	c.2667C>A	c.(2665-2667)TAC>TAA	p.Y889*	ACTN2_uc001hyg.2_Nonsense_Mutation_p.Y681*|ACTN2_uc009xgi.1_Nonsense_Mutation_p.Y889*|ACTN2_uc010pxu.1_Nonsense_Mutation_p.Y578*|ACTN2_uc001hyh.2_Nonsense_Mutation_p.Y577*	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	889					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCGCACTCTACGGGGAGAGCG	0.532													11	21	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237619948	237619948	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237619948A>T	uc001hyl.1	+	16	1645	c.1525A>T	c.(1525-1527)AGC>TGC	p.S509C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	509	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACGTCTACAGCAGTGCAGC	0.433													11	47	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237875042	237875042	+	Intron	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237875042C>T	uc001hyl.1	+						RYR2_uc010pxz.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCAACTTCTCAGAATTTCAA	0.313													3	3	---	---	---	---	PASS
FMN2	56776	broad.mit.edu	37	1	240370304	240370304	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240370304A>G	uc010pyd.1	+	5	2417	c.2192A>G	c.(2191-2193)AAG>AGG	p.K731R	FMN2_uc010pye.1_Missense_Mutation_p.K735R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	731					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTAGAAGAAAAGGAAGTACGG	0.557													12	21	---	---	---	---	PASS
EXO1	9156	broad.mit.edu	37	1	242042374	242042374	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242042374G>T	uc001hzh.2	+	13	2378	c.1838G>T	c.(1837-1839)GGA>GTA	p.G613V	EXO1_uc001hzi.2_Missense_Mutation_p.G613V|EXO1_uc001hzj.2_Missense_Mutation_p.G613V|EXO1_uc009xgq.2_Missense_Mutation_p.G612V	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	613	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGTTGGTCTGGAGGTCTTGGA	0.463								Direct_reversal_of_damage|Editing_and_processing_nucleases					31	47	---	---	---	---	PASS
SDCCAG8	10806	broad.mit.edu	37	1	243449593	243449593	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243449593A>T	uc001hzw.2	+	5	596	c.440A>T	c.(439-441)AAA>ATA	p.K147I	SDCCAG8_uc010pyk.1_Missense_Mutation_p.K2I|SDCCAG8_uc010pyl.1_Missense_Mutation_p.K2I|SDCCAG8_uc001hzx.2_Missense_Mutation_p.K2I	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	147	Potential.				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TCTGGAATGAAAAATAAAATA	0.358													21	34	---	---	---	---	PASS
ZNF238	10472	broad.mit.edu	37	1	244217443	244217443	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244217443A>G	uc001iae.2	+	1	862	c.340A>G	c.(340-342)AAA>GAA	p.K114E	ZNF238_uc001iad.3_Missense_Mutation_p.K123E|ZNF238_uc001iaf.1_Missense_Mutation_p.K114E	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	114					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CAAAGTCTGCAAAAAGAAGCT	0.458													12	13	---	---	---	---	PASS
OR2AK2	391191	broad.mit.edu	37	1	248129356	248129356	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248129356C>A	uc010pzd.1	+	1	723	c.723C>A	c.(721-723)TTC>TTA	p.F241L	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTGTGGTATTCCAGATGAGCT	0.463													4	27	---	---	---	---	PASS
OR2T12	127064	broad.mit.edu	37	1	248458694	248458694	+	Nonsense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248458694G>A	uc010pzj.1	-	1	187	c.187C>T	c.(187-189)CAA>TAA	p.Q63*		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGGGAAAGTTGGCTCAGGAGG	0.557													41	24	---	---	---	---	PASS
OR2T6	254879	broad.mit.edu	37	1	248551010	248551010	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248551010T>C	uc001iei.1	+	1	101	c.101T>C	c.(100-102)GTC>GCC	p.V34A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTGTGCCGTCTTCTTCATG	0.463													14	41	---	---	---	---	PASS
OR2T3	343173	broad.mit.edu	37	1	248636960	248636960	+	Silent	SNP	G	T	T	rs146200189		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248636960G>T	uc001iel.1	+	1	309	c.309G>T	c.(307-309)GGG>GGT	p.G103G		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	103	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G103G(1)		skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGGCTGTGGGATCCAGATGT	0.547													7	38	---	---	---	---	PASS
OR2T10	127069	broad.mit.edu	37	1	248756338	248756338	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248756338G>T	uc010pzn.1	-	1	732	c.732C>A	c.(730-732)CAC>CAA	p.H244Q		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTGTAATGTGGGAGGAGC	0.453													9	21	---	---	---	---	PASS
RNASEH1	246243	broad.mit.edu	37	2	3593369	3593369	+	3'UTR	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3593369C>G	uc002qxt.2	-	8					RNASEH1_uc002qxs.2_3'UTR	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1						RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ACTAAAGTCACATGGCTCAGT	0.483													38	27	---	---	---	---	PASS
ODC1	4953	broad.mit.edu	37	2	10582277	10582277	+	Silent	SNP	C	A	A	rs114981547	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10582277C>A	uc010exg.1	-	9	1208	c.774G>T	c.(772-774)GCG>GCT	p.A258A	ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Silent_p.A258A|ODC1_uc010yjd.1_Silent_p.A128A	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	258					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	ATTTGTCCAACGCTGGGTTGA	0.463													40	24	---	---	---	---	PASS
AHSA2	130872	broad.mit.edu	37	2	61412642	61412642	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61412642G>C	uc002sbc.1	+	4	1667	c.81G>C	c.(79-81)CAG>CAC	p.Q27H	AHSA2_uc002sbb.1_RNA	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein	189					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)	1			Epithelial(17;0.0994)			TCCAGGTTCAGGCCTCATCTC	0.453													15	230	---	---	---	---	PASS
OTX1	5013	broad.mit.edu	37	2	63282959	63282959	+	Silent	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63282959G>C	uc002scd.2	+	5	821	c.573G>C	c.(571-573)GTG>GTC	p.V191V	OTX1_uc010ypt.1_Silent_p.V125V	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	191						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					CCGCGTCCGTGTCGGTGCCGG	0.682													23	43	---	---	---	---	PASS
DYSF	8291	broad.mit.edu	37	2	71795186	71795186	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71795186G>A	uc002sie.2	+	25	2993	c.2617G>A	c.(2617-2619)GGG>AGG	p.G873R	DYSF_uc010feg.2_Missense_Mutation_p.G904R|DYSF_uc010feh.2_Missense_Mutation_p.G859R|DYSF_uc002sig.3_Missense_Mutation_p.G859R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G873R|DYSF_uc010fef.2_Missense_Mutation_p.G890R|DYSF_uc010fei.2_Missense_Mutation_p.G890R|DYSF_uc010fek.2_Missense_Mutation_p.G891R|DYSF_uc010fej.2_Missense_Mutation_p.G860R|DYSF_uc010fel.2_Missense_Mutation_p.G860R|DYSF_uc010feo.2_Missense_Mutation_p.G905R|DYSF_uc010fem.2_Missense_Mutation_p.G874R|DYSF_uc010fen.2_Missense_Mutation_p.G891R|DYSF_uc002sif.2_Missense_Mutation_p.G874R	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	873	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GTTTGCTGAGGGGAAGCTGTC	0.597													21	76	---	---	---	---	PASS
ALMS1	7840	broad.mit.edu	37	2	73716954	73716954	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73716954G>C	uc002sje.1	+	12	7982	c.7871G>C	c.(7870-7872)AGA>ACA	p.R2624T	ALMS1_uc002sjf.1_Missense_Mutation_p.R2580T|ALMS1_uc002sjg.2_Missense_Mutation_p.R2010T|ALMS1_uc002sjh.1_Missense_Mutation_p.R2010T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2622					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TCATCATGCAGAGCCAAGCAT	0.448													12	95	---	---	---	---	PASS
ACTG2	72	broad.mit.edu	37	2	74136211	74136211	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74136211C>T	uc002sjw.2	+	5	518	c.396C>T	c.(394-396)GCC>GCT	p.A132A	ACTG2_uc010fey.2_Silent_p.A132A|ACTG2_uc010yrn.1_Silent_p.A89A	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	132					muscle contraction	cytoskeleton|cytosol	ATP binding				0						ATGTCCCTGCCATGTACGTCG	0.443													29	117	---	---	---	---	PASS
ACTG2	72	broad.mit.edu	37	2	74140623	74140623	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74140623G>T	uc002sjw.2	+	6	585	c.463G>T	c.(463-465)GAT>TAT	p.D155Y	ACTG2_uc010fey.2_Missense_Mutation_p.D155Y|ACTG2_uc010yrn.1_Missense_Mutation_p.D112Y	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	155					muscle contraction	cytoskeleton|cytosol	ATP binding				0						CATCGTCCTGGATTCAGGTGA	0.517													32	61	---	---	---	---	PASS
MRPL53	116540	broad.mit.edu	37	2	74699237	74699237	+	3'UTR	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74699237T>C	uc002sln.2	-	3					CCDC142_uc002slo.2_RNA	NM_053050	NP_444278	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53 precursor							mitochondrion|ribosome					0						GTTGGTCTCTTTGGCGCTGTC	0.552													56	46	---	---	---	---	PASS
HK2	3099	broad.mit.edu	37	2	75115034	75115034	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75115034G>C	uc002snd.2	+	16	4150	c.2224G>C	c.(2224-2226)GAG>CAG	p.E742Q		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	742	Substrate 2 binding.|Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						TTGCAGGTTCGAGAAAATGAT	0.502													9	97	---	---	---	---	PASS
REG1A	5967	broad.mit.edu	37	2	79349232	79349232	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79349232G>T	uc002snz.2	+	4	405	c.302G>T	c.(301-303)GGC>GTC	p.G101V	REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.G101V	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	101	C-type lectin.			G -> A (in Ref. 2; AAA36559).	positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						GTCTGGATTGGCCTCCATGAC	0.498													20	73	---	---	---	---	PASS
REG3A	5068	broad.mit.edu	37	2	79384779	79384779	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79384779C>A	uc002sod.1	-	4	634	c.379G>T	c.(379-381)GTG>TTG	p.V127L	REG3A_uc002soe.1_Missense_Mutation_p.V127L|REG3A_uc002sof.1_Missense_Mutation_p.V127L	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	127	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1						TAATTCATCACATCACTGCTA	0.542													22	84	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	89513182	89513182	+	RNA	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89513182A>C	uc010ytr.1	-	23		c.2706T>G			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																		AGACTGGGTCATCTGGATGTC	0.438													22	40	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	90229292	90229292	+	Intron	SNP	G	T	T	rs147724164	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:90229292G>T	uc010fhm.2	+											Parts of antibodies, mostly variable regions.																		TGCATCTGTAGGAGACAGAGT	0.433													20	80	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	90249332	90249332	+	RNA	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:90249332C>A	uc010fhm.2	+	28		c.3875C>A								Parts of antibodies, mostly variable regions.																		ACACTCTCACCATCAGCAGCC	0.483													53	157	---	---	---	---	PASS
EIF5B	9669	broad.mit.edu	37	2	99995478	99995478	+	Intron	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99995478C>T	uc002tab.2	+							NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						ttttttatttCTAGAAACGGC	0.333													5	12	---	---	---	---	PASS
EPB41L5	57669	broad.mit.edu	37	2	120847927	120847927	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120847927A>T	uc002tmg.2	+	12	1004	c.878A>T	c.(877-879)AAA>ATA	p.K293I	EPB41L5_uc010flk.2_Missense_Mutation_p.K293I|EPB41L5_uc010fll.2_Missense_Mutation_p.K293I|EPB41L5_uc002tmh.3_Missense_Mutation_p.K293I|EPB41L5_uc010flm.2_Missense_Mutation_p.K97I	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	293	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						TTTCAGGGCAAAGAACAGGAA	0.358													241	63	---	---	---	---	PASS
RAB3GAP1	22930	broad.mit.edu	37	2	135893434	135893434	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135893434C>T	uc002tuj.2	+	17	1880	c.1855C>T	c.(1855-1857)CGG>TGG	p.R619W	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.R619W|RAB3GAP1_uc010fng.2_Missense_Mutation_p.R444W|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	619				R->A: No effect.		centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCGGAAGGACGGCTCTATCA	0.423													24	24	---	---	---	---	PASS
ZEB2	9839	broad.mit.edu	37	2	145157072	145157072	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145157072G>T	uc002tvu.2	-	8	2162	c.1682C>A	c.(1681-1683)ACT>AAT	p.T561N	ZEB2_uc002tvv.2_Missense_Mutation_p.T555N|ZEB2_uc010zbm.1_Missense_Mutation_p.T532N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.T590N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	561						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATCTATTAAAGTACGTAGCTT	0.393													4	68	---	---	---	---	PASS
SCN3A	6328	broad.mit.edu	37	2	165949038	165949038	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165949038G>T	uc002ucx.2	-						SCN3A_uc010zcy.1_Intron|SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha							voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	ATTTGTTCTAGAAAGTGAGAG	0.368													27	8	---	---	---	---	PASS
CSRNP3	80034	broad.mit.edu	37	2	166514429	166514429	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166514429C>A	uc002udf.2	+	5	683	c.307C>A	c.(307-309)CAG>AAG	p.Q103K	CSRNP3_uc002udg.2_Missense_Mutation_p.Q103K	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	103					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						CAGCGTGCGCCAGTACACTCT	0.547													9	14	---	---	---	---	PASS
XIRP2	129446	broad.mit.edu	37	2	168105796	168105796	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168105796A>T	uc002udx.2	+	8	7912	c.7894A>T	c.(7894-7896)ACA>TCA	p.T2632S	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T2457S|XIRP2_uc010fpq.2_Missense_Mutation_p.T2410S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2457					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ACTCTCCACAACATCGCCAGA	0.448													22	25	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179631324	179631324	+	Missense_Mutation	SNP	G	C	C	rs140664731	byFrequency	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179631324G>C	uc010zfg.1	-	41	9711	c.9487C>G	c.(9487-9489)CGT>GGT	p.R3163G	TTN_uc010zfh.1_Missense_Mutation_p.R3117G|TTN_uc010zfi.1_Missense_Mutation_p.R3117G|TTN_uc010zfj.1_Missense_Mutation_p.R3117G|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.R3163G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3163							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)			ACAACAGCACGCTGTTTCTCA	0.363													20	11	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179644751	179644751	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179644751C>A	uc010zfg.1	-	22	3929	c.3705G>T	c.(3703-3705)GTG>GTT	p.V1235V	TTN_uc010zfh.1_Silent_p.V1189V|TTN_uc010zfi.1_Silent_p.V1189V|TTN_uc010zfj.1_Silent_p.V1189V|TTN_uc002unb.2_Silent_p.V1235V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1235							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)			AAGTTCTGACCACTACAGTAT	0.269													26	26	---	---	---	---	PASS
UBE2E3	10477	broad.mit.edu	37	2	181927572	181927572	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:181927572A>G	uc002unq.1	+	7	800	c.581A>G	c.(580-582)CAC>CGC	p.H194R	UBE2E3_uc002unr.1_Missense_Mutation_p.H194R|UBE2E3_uc010fri.1_Missense_Mutation_p.H194R	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	194					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			ovary(1)	1						AGAGCAGAACACGACAGGATA	0.438													11	6	---	---	---	---	PASS
NCKAP1	10787	broad.mit.edu	37	2	183843592	183843592	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183843592T>A	uc002upc.2	-	14	1795	c.1393A>T	c.(1393-1395)AAC>TAC	p.N465Y	NCKAP1_uc002upb.2_Missense_Mutation_p.N471Y	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	465					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTCATAGTGTTAACAAAAGAG	0.239													3	19	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	186669956	186669956	+	Intron	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186669956T>A	uc002upm.2	+						uc010zfu.1_5'Flank					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																		GAGCTAGATATTATGGGCTTG	0.303													4	56	---	---	---	---	PASS
ZDBF2	57683	broad.mit.edu	37	2	207171568	207171568	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207171568A>T	uc002vbp.2	+	5	2566	c.2316A>T	c.(2314-2316)AAA>AAT	p.K772N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	772							nucleic acid binding|zinc ion binding			ovary(3)	3						CTGAAGGAAAAGAACGGCACA	0.423													57	44	---	---	---	---	PASS
ZDBF2	57683	broad.mit.edu	37	2	207176300	207176300	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207176300G>T	uc002vbp.2	+	5	7298	c.7048G>T	c.(7048-7050)GGT>TGT	p.G2350C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2350							nucleic acid binding|zinc ion binding			ovary(3)	3						CAAACTGAGAGGTAATGAGGT	0.403													5	10	---	---	---	---	PASS
PTH2R	5746	broad.mit.edu	37	2	209309448	209309448	+	Intron	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209309448A>C	uc002vdb.2	+						PTH2R_uc010zjb.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor							integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATTCTGGTTTATTTGTAATAG	0.353													7	81	---	---	---	---	PASS
MAP2	4133	broad.mit.edu	37	2	210561257	210561257	+	Intron	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210561257G>C	uc002vde.1	+						MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GATTTGCTTTGATCCACAGAT	0.333													5	33	---	---	---	---	PASS
MYL1	4632	broad.mit.edu	37	2	211158470	211158470	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211158470G>T	uc002vec.2	-	5	662	c.533C>A	c.(532-534)TCC>TAC	p.S178Y	MYL1_uc002veb.2_Missense_Mutation_p.S134Y	NM_079420	NP_524144	P05976	MYL1_HUMAN	fast skeletal myosin alkali light chain 1	178	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			ovary(1)	1				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GCAGCCATTGGAGTCTTCTTG	0.428													7	101	---	---	---	---	PASS
PLCD4	84812	broad.mit.edu	37	2	219501078	219501078	+	Silent	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219501078T>A	uc002vij.1	+	15	2340	c.2145T>A	c.(2143-2145)ATT>ATA	p.I715I		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	715	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGACTTTATTGGTCAGTACA	0.542													31	127	---	---	---	---	PASS
STK11IP	114790	broad.mit.edu	37	2	220472790	220472790	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220472790C>T	uc002vml.2	+	14	1317	c.1274C>T	c.(1273-1275)CCG>CTG	p.P425L	STK11IP_uc010zll.1_Missense_Mutation_p.P382L|STK11IP_uc002vmm.1_Missense_Mutation_p.P414L	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	425					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAGCACCCGGAGCTGGAG	0.637													10	8	---	---	---	---	PASS
CXCR7	57007	broad.mit.edu	37	2	237489723	237489723	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237489723C>G	uc010fyq.2	+	3	845	c.615C>G	c.(613-615)ATC>ATG	p.I205M	CXCR7_uc002vwd.2_Missense_Mutation_p.I205M	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	205	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		AGCACAGCATCAAGGAGTGGC	0.567													4	70	---	---	---	---	PASS
COL6A3	1293	broad.mit.edu	37	2	238263551	238263551	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238263551G>A	uc002vwl.2	-	24	6903	c.6618C>T	c.(6616-6618)CCC>CCT	p.P2206P	COL6A3_uc002vwo.2_Silent_p.P2000P|COL6A3_uc010znj.1_Silent_p.P1599P|COL6A3_uc002vwp.1_Silent_p.P27P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2206	Triple-helical region.|Collagen-like 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTTAGCTCCGGGGGGTCCCC	0.577													7	3	---	---	---	---	PASS
GPC1	2817	broad.mit.edu	37	2	241401910	241401910	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241401910C>T	uc002vyw.3	+	3	849	c.628C>T	c.(628-630)CGC>TGC	p.R210C		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	210					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GAGAGAGCTGCGCCTGCGGGC	0.711													12	6	---	---	---	---	PASS
TTLL3	26140	broad.mit.edu	37	3	9874874	9874874	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9874874G>A	uc003btg.2	+	11	1857	c.1641G>A	c.(1639-1641)CGG>CGA	p.R547R	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron|TTLL3_uc003btf.3_Intron|TTLL3_uc010hco.1_Intron|TTLL3_uc003bth.3_Silent_p.R335R|TTLL3_uc011atj.1_Silent_p.R483R|TTLL3_uc003btj.3_Intron|TTLL3_uc003bti.3_Silent_p.R335R	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	547					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					TGTGTCATCGGCGGATGGGGG	0.622													11	13	---	---	---	---	PASS
TMEM40	55287	broad.mit.edu	37	3	12791327	12791327	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12791327T>A	uc003bxg.1	-	2	132	c.5A>T	c.(4-6)GAG>GTG	p.E2V	TMEM40_uc003bxh.1_Missense_Mutation_p.E2V|TMEM40_uc003bxi.1_Missense_Mutation_p.E2V|TMEM40_uc011auv.1_Missense_Mutation_p.E18V	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	2						integral to membrane					0						TGCTGAAGTCTCCATGGCTTT	0.348													11	19	---	---	---	---	PASS
CCR8	1237	broad.mit.edu	37	3	39374082	39374082	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39374082C>A	uc010hhr.2	+	2	398	c.260C>A	c.(259-261)TCC>TAC	p.S87Y	CCR8_uc003cjm.2_Intron	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	87	Helical; Name=2; (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTTGTCTTCTCCTTCCCCTTT	0.498													75	70	---	---	---	---	PASS
MYL3	4634	broad.mit.edu	37	3	46899752	46899752	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46899752C>A	uc003cql.1	-	6	663	c.570G>T	c.(568-570)AAG>AAT	p.K190N		NM_000258	NP_000249	P08590	MYL3_HUMAN	slow skeletal ventricular myosin alkali light	190	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle				0				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		ACATGATGTGCTTCACAAATG	0.602													15	7	---	---	---	---	PASS
CCDC51	79714	broad.mit.edu	37	3	48476522	48476522	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48476522G>A	uc003csz.2	-	2	138	c.17C>T	c.(16-18)CCT>CTT	p.P6L	CCDC51_uc003cta.2_Intron|CCDC51_uc003ctb.2_Intron|CCDC51_uc003ctc.2_Missense_Mutation_p.P6L|CCDC51_uc003ctd.2_Intron	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	6						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCAAACCCAGGGCTGCGCCC	0.597													5	9	---	---	---	---	PASS
GBE1	2632	broad.mit.edu	37	3	81640303	81640303	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:81640303G>A	uc003dqg.2	-	10	1404	c.1121C>T	c.(1120-1122)TCA>TTA	p.S374L	GBE1_uc011bgm.1_Missense_Mutation_p.S333L	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	374					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.S374*(1)		ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GTAATCACCTGAGAAACCTTG	0.358									Glycogen_Storage_Disease_type_IV				3	6	---	---	---	---	PASS
EPHA3	2042	broad.mit.edu	37	3	89259464	89259464	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89259464C>T	uc003dqy.2	+	3	833	c.608C>T	c.(607-609)CCA>CTA	p.P203L	EPHA3_uc003dqx.1_Missense_Mutation_p.P203L|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	203	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAAAGTGCCCATTTACAGTG	0.453										TSP Lung(6;0.00050)			47	82	---	---	---	---	PASS
CCDC54	84692	broad.mit.edu	37	3	107097078	107097078	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107097078C>A	uc003dwi.1	+	1	891	c.644C>A	c.(643-645)CCC>CAC	p.P215H		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	215											0						ACAATTTCTCCCCAAATGAAA	0.393													22	42	---	---	---	---	PASS
CD96	10225	broad.mit.edu	37	3	111298029	111298029	+	Silent	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111298029T>A	uc003dxw.2	+	5	917	c.747T>A	c.(745-747)ATT>ATA	p.I249I	CD96_uc003dxv.2_Silent_p.I233I|CD96_uc003dxx.2_Silent_p.I233I|CD96_uc010hpy.1_Silent_p.I233I	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	249	Extracellular (Potential).				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						CTTGCCACATTAGAGTCGGTC	0.473									Opitz_Trigonocephaly_syndrome				35	57	---	---	---	---	PASS
QTRTD1	79691	broad.mit.edu	37	3	113795799	113795799	+	Intron	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113795799C>T	uc003eay.2	+						QTRTD1_uc003eaz.2_Intron|QTRTD1_uc011biq.1_Intron|QTRTD1_uc011bir.1_Intron|QTRTD1_uc003eba.2_Silent_p.F129F	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain						queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						GGCCAGTGTTCGGTTAGGACA	0.507													8	21	---	---	---	---	PASS
IGSF11	152404	broad.mit.edu	37	3	118621385	118621385	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118621385C>A	uc003ebw.2	-	7	1525	c.1278G>T	c.(1276-1278)CGG>CGT	p.R426R	IGSF11_uc011biv.1_Silent_p.R398R|IGSF11_uc003ebx.2_Silent_p.R402R|IGSF11_uc003eby.2_Silent_p.R425R|IGSF11_uc003ebz.2_Silent_p.R401R|IGSF11_uc010hqs.2_Silent_p.R425R	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	426	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						AGGACCCGGCCCGACTCTGGG	0.542													31	73	---	---	---	---	PASS
GOLGB1	2804	broad.mit.edu	37	3	121414947	121414947	+	Nonsense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121414947C>A	uc003eei.3	-	13	4534	c.4408G>T	c.(4408-4410)GAG>TAG	p.E1470*	GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E1475*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E1436*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E1356*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E1434*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1470	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TCTCCAATCTCTTCTGGTTTT	0.403													89	165	---	---	---	---	PASS
CCDC37	348807	broad.mit.edu	37	3	126138990	126138990	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126138990C>A	uc003eiu.1	+	11	1099	c.1000C>A	c.(1000-1002)CGG>AGG	p.R334R	CCDC37_uc010hsg.1_Silent_p.R335R	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	334										ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		GCAGACGATGCGGCTGGGGCG	0.647													9	17	---	---	---	---	PASS
UROC1	131669	broad.mit.edu	37	3	126220715	126220715	+	Intron	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126220715A>G	uc003eiz.1	-						UROC1_uc010hsi.1_Missense_Mutation_p.C327R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1						histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TTGACAAAGCAGGAAAGGACA	0.627													18	37	---	---	---	---	PASS
PIK3R4	30849	broad.mit.edu	37	3	130464034	130464034	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130464034G>C	uc003enj.2	-	2	610	c.29C>G	c.(28-30)CCC>CGC	p.P10R		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	10					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						GATCTGGGAGGGAGCAATGCC	0.383													21	26	---	---	---	---	PASS
DNAJC13	23317	broad.mit.edu	37	3	132182590	132182590	+	Silent	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132182590A>G	uc003eor.2	+	17	1886	c.1821A>G	c.(1819-1821)GAA>GAG	p.E607E	DNAJC13_uc010htq.1_Silent_p.E607E	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	607							heat shock protein binding			ovary(1)|breast(1)	2						CCCTAAGTGAAGGTGCCTTAC	0.408													16	48	---	---	---	---	PASS
PLS1	5357	broad.mit.edu	37	3	142422706	142422706	+	Intron	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142422706A>G	uc010huv.2	+						PLS1_uc003euz.2_Intron|PLS1_uc003eva.2_Intron	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN	plastin 1							cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(1)	1						TTACTTATTTATAGATTGAAA	0.353													14	34	---	---	---	---	PASS
ZIC4	84107	broad.mit.edu	37	3	147109008	147109008	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147109008G>A	uc003ewd.1	-	4	987	c.714C>T	c.(712-714)TTC>TTT	p.F238F	ZIC4_uc003ewc.1_Silent_p.F168F|ZIC4_uc011bno.1_Silent_p.F288F	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	238	C2H2-type 4.					nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CGCAGCCCTCGAACTCGCATC	0.622													8	12	---	---	---	---	PASS
VEPH1	79674	broad.mit.edu	37	3	157034940	157034940	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157034940C>A	uc003fbj.1	-	10	2103	c.1786G>T	c.(1786-1788)GGT>TGT	p.G596C	VEPH1_uc003fbk.1_Missense_Mutation_p.G596C|VEPH1_uc010hvu.1_Missense_Mutation_p.G596C	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	596						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAGTAATGACCCTTCAGGGAG	0.398													18	38	---	---	---	---	PASS
IFT80	57560	broad.mit.edu	37	3	160102367	160102367	+	Silent	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160102367A>G	uc011boy.1	-	2	455	c.22T>C	c.(22-24)TTA>CTA	p.L8L	IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	8						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTTCTTTTAAAAGAGATATC	0.259													7	21	---	---	---	---	PASS
KPNA4	3840	broad.mit.edu	37	3	160226054	160226054	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160226054C>A	uc003fdn.2	-	15	1519	c.1213G>T	c.(1213-1215)GCT>TCT	p.A405S		NM_002268	NP_002259	O00629	IMA4_HUMAN	karyopherin alpha 4	405	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATAAGGTAAGCCACCTGAAGA	0.333													6	13	---	---	---	---	PASS
SLITRK3	22865	broad.mit.edu	37	3	164906718	164906718	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906718C>G	uc003fej.3	-	2	2345	c.1901G>C	c.(1900-1902)GGG>GCG	p.G634A	SLITRK3_uc003fek.2_Missense_Mutation_p.G634A	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	634	Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						GGTTGGTGCCCCAATAAGGTG	0.527										HNSCC(40;0.11)			7	13	---	---	---	---	PASS
SLITRK3	22865	broad.mit.edu	37	3	164908356	164908356	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164908356G>C	uc003fej.3	-	2	707	c.263C>G	c.(262-264)TCT>TGT	p.S88C	SLITRK3_uc003fek.2_Missense_Mutation_p.S88C	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	88	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						TTTCCTCATAGAATTCCTCTG	0.353										HNSCC(40;0.11)			33	64	---	---	---	---	PASS
SERPINI2	5276	broad.mit.edu	37	3	167189477	167189477	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167189477G>T	uc003fer.1	-	1	204	c.146C>A	c.(145-147)CCC>CAC	p.P49H	SERPINI2_uc003fes.1_Missense_Mutation_p.P59H|SERPINI2_uc003fet.1_Missense_Mutation_p.P49H	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	49					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						TATTCCAAGGGGTGAAAATAT	0.393													4	124	---	---	---	---	PASS
SPATA16	83893	broad.mit.edu	37	3	172835144	172835144	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172835144C>T	uc003fin.3	-	2	536	c.378G>A	c.(376-378)AAG>AAA	p.K126K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	126					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTAGACCAACTTCATTTCCA	0.423													45	71	---	---	---	---	PASS
RGS12	6002	broad.mit.edu	37	4	3318114	3318114	+	Nonsense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3318114A>T	uc003ggw.2	+	2	1121	c.217A>T	c.(217-219)AAA>TAA	p.K73*	RGS12_uc003ggu.2_Nonsense_Mutation_p.K73*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.K73*|RGS12_uc003ggx.1_Nonsense_Mutation_p.K73*	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	73	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AATCAACGTGAAAAAAGCATC	0.517													9	26	---	---	---	---	PASS
SLIT2	9353	broad.mit.edu	37	4	20598066	20598066	+	Missense_Mutation	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20598066A>C	uc003gpr.1	+	32	3553	c.3349A>C	c.(3349-3351)ATG>CTG	p.M1117L	SLIT2_uc003gps.1_Missense_Mutation_p.M1109L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1117					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						TTCTCCACCCATGGTCCTCCC	0.398													4	45	---	---	---	---	PASS
GBA3	57733	broad.mit.edu	37	4	22748973	22748973	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22748973C>A	uc003gqp.3	+	3	432	c.341C>A	c.(340-342)CCC>CAC	p.P114H	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P115H	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	114					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						GGGGTTACTCCCATTGTGACC	0.378													23	74	---	---	---	---	PASS
GBA3	57733	broad.mit.edu	37	4	22749246	22749246	+	Nonsense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22749246G>A	uc003gqp.3	+	3	705	c.614G>A	c.(613-615)TGG>TAG	p.W205*	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Nonsense_Mutation_p.W206*	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	205					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						GCCAGATCCTGGCACAGCTAT	0.448													28	59	---	---	---	---	PASS
GBA3	57733	broad.mit.edu	37	4	22749605	22749605	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22749605G>C	uc003gqp.3	+	3	1064	c.973G>C	c.(973-975)GGT>CGT	p.G325R	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G326R	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	325					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						AGGAGAACTAGGTATTCTCCA	0.383													3	9	---	---	---	---	PASS
DCAF4L1	285429	broad.mit.edu	37	4	41984529	41984529	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41984529T>A	uc003gwk.2	+	1	817	c.720T>A	c.(718-720)TTT>TTA	p.F240L		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	240										skin(1)	1						CTTTGCTGTTTAATGGCTGTC	0.552													32	78	---	---	---	---	PASS
GABRA2	2555	broad.mit.edu	37	4	46305618	46305618	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46305618C>A	uc003gxc.3	-	7	1388	c.715G>T	c.(715-717)GTA>TTA	p.V239L	GABRA2_uc010igc.2_Missense_Mutation_p.V239L|GABRA2_uc011bzc.1_Missense_Mutation_p.V184L|GABRA2_uc003gxe.2_Missense_Mutation_p.V239L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	239	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCTGTCATTACAGTATATTCA	0.348													9	23	---	---	---	---	PASS
PDGFRA	5156	broad.mit.edu	37	4	55152076	55152076	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55152076C>G	uc003han.3	+	18	2839	c.2508C>G	c.(2506-2508)GAC>GAG	p.D836E	PDGFRA_uc003haa.2_Missense_Mutation_p.D596E	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	836	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGATCTGTGACTTTGGCCTGG	0.502			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			25	93	---	---	---	---	PASS
KDR	3791	broad.mit.edu	37	4	55970937	55970937	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55970937G>T	uc003has.2	-	13	2162	c.1860C>A	c.(1858-1860)AGC>AGA	p.S620R	KDR_uc003hat.1_Missense_Mutation_p.S620R|KDR_uc011bzx.1_Missense_Mutation_p.S620R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	620	Ig-like C2-type 6.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCATTTGTGCTATTAGAGA	0.453			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			7	34	---	---	---	---	PASS
KDR	3791	broad.mit.edu	37	4	55987285	55987285	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55987285G>T	uc003has.2	-	2	442	c.140C>A	c.(139-141)ACA>AAA	p.T47K	KDR_uc003hat.1_Missense_Mutation_p.T47K|KDR_uc011bzx.1_Missense_Mutation_p.T47K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	47	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAAGAGTTGTATTAGCCTT	0.328			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			14	31	---	---	---	---	PASS
KIAA1211	57482	broad.mit.edu	37	4	57164494	57164494	+	Silent	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57164494G>T	uc003hbk.2	+	4	490	c.99G>T	c.(97-99)CTG>CTT	p.L33L	KIAA1211_uc010iha.2_Missense_Mutation_p.W19L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	33										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					ACAACATCCTGGGCAAAGTCA	0.493													8	34	---	---	---	---	PASS
UGT2B4	7363	broad.mit.edu	37	4	70361033	70361033	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70361033G>T	uc003hek.3	-	1	594	c.547C>A	c.(547-549)CAT>AAT	p.H183N	UGT2B4_uc011cap.1_Missense_Mutation_p.H47N|UGT2B4_uc003hel.3_Missense_Mutation_p.H183N	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	183					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						CCTCCACTATGCTTTTCAATT	0.443													20	15	---	---	---	---	PASS
SHROOM3	57619	broad.mit.edu	37	4	77661306	77661306	+	Silent	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77661306A>G	uc011cbx.1	+	5	2933	c.1980A>G	c.(1978-1980)TCA>TCG	p.S660S	SHROOM3_uc011cbz.1_Silent_p.S484S|SHROOM3_uc003hkf.1_Silent_p.S535S|SHROOM3_uc003hkg.2_Silent_p.S438S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	660					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			AGACCAAGTCAGCCTTCTCAT	0.592													28	37	---	---	---	---	PASS
COL25A1	84570	broad.mit.edu	37	4	109784501	109784501	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:109784501C>T	uc003hze.1	-	20	1657	c.1126G>A	c.(1126-1128)GGG>AGG	p.G376R	COL25A1_uc003hzg.2_Missense_Mutation_p.G376R|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G157R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	376	Extracellular (Potential).|Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAGGTTCCCCTCGCTCACCT	0.493													10	9	---	---	---	---	PASS
SEC24B	10427	broad.mit.edu	37	4	110441621	110441621	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110441621G>T	uc003hzk.2	+	12	2281	c.2226G>T	c.(2224-2226)TTG>TTT	p.L742F	SEC24B_uc003hzl.2_Missense_Mutation_p.L707F|SEC24B_uc011cfp.1_Missense_Mutation_p.L772F|SEC24B_uc011cfq.1_Missense_Mutation_p.L741F|SEC24B_uc011cfr.1_Missense_Mutation_p.L706F	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	742					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTCAAATGTTGATTGTGTCTG	0.358													29	17	---	---	---	---	PASS
PCDH10	57575	broad.mit.edu	37	4	134075502	134075502	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134075502G>C	uc003iha.2	+	2	3498	c.2672G>C	c.(2671-2673)AGA>ACA	p.R891T		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	891	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CTAGTTGACAGACCTCGCCGA	0.368													8	9	---	---	---	---	PASS
FAT1	2195	broad.mit.edu	37	4	187535395	187535395	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187535395T>C	uc003izf.2	-	12	9367	c.9179A>G	c.(9178-9180)TAC>TGC	p.Y3060C		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3060	Extracellular (Potential).|Cadherin 28.				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						CAATAACGTGTAAGTAATTTC	0.383										HNSCC(5;0.00058)			47	42	---	---	---	---	PASS
SLC6A19	340024	broad.mit.edu	37	5	1208963	1208963	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1208963G>T	uc003jbw.3	+	2	361	c.305G>T	c.(304-306)GGT>GTT	p.G102V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	102	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCAGCCTGGGTGTGTGGAGC	0.682													30	29	---	---	---	---	PASS
ADAMTS16	170690	broad.mit.edu	37	5	5303769	5303769	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5303769C>T	uc003jdl.2	+	20	3214	c.3076C>T	c.(3076-3078)CCC>TCC	p.P1026S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P1026S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1026	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GCAGCTGCTGCCCGACGCTGT	0.637													13	32	---	---	---	---	PASS
KIAA0947	23379	broad.mit.edu	37	5	5489359	5489359	+	Silent	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5489359G>T	uc003jdm.3	+	19	6939	c.6717G>T	c.(6715-6717)CGG>CGT	p.R2239R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2239										ovary(1)|central_nervous_system(1)	2						AAGCTTGGCGGAGAGAGGCCT	0.532													10	19	---	---	---	---	PASS
CDH18	1016	broad.mit.edu	37	5	19520841	19520841	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19520841C>A	uc003jgc.2	-	9	1814	c.1437G>T	c.(1435-1437)CTG>CTT	p.L479L	CDH18_uc003jgd.2_Silent_p.L479L|CDH18_uc011cnm.1_Silent_p.L479L	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	479	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATTGACATCCAGAACTCTAA	0.403													39	109	---	---	---	---	PASS
CDH12	1010	broad.mit.edu	37	5	21752000	21752000	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21752000C>T	uc010iuc.2	-	12	2689	c.2231G>A	c.(2230-2232)AGT>AAT	p.S744N	CDH12_uc011cno.1_Missense_Mutation_p.S704N|CDH12_uc003jgk.2_Missense_Mutation_p.S744N|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	744	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CACGGACCCACTCCCTTCGTA	0.507										HNSCC(59;0.17)			42	51	---	---	---	---	PASS
NPR3	4883	broad.mit.edu	37	5	32780908	32780908	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32780908G>T	uc003jhv.2	+	5	1494	c.1276G>T	c.(1276-1278)GCG>TCG	p.A426S	NPR3_uc010iuo.2_Missense_Mutation_p.A210S|NPR3_uc011cnz.1_Missense_Mutation_p.A210S|NPR3_uc003jhu.2_Missense_Mutation_p.A426S	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	426	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	TGATGTGGAGGCGGGCACCCA	0.567													65	87	---	---	---	---	PASS
ADAMTS12	81792	broad.mit.edu	37	5	33576326	33576326	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33576326G>T	uc003jia.1	-	19	3968	c.3805C>A	c.(3805-3807)CTG>ATG	p.L1269M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.L1184M	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1269	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGAAGTTTCAGGTGGTTACGG	0.488										HNSCC(64;0.19)			54	198	---	---	---	---	PASS
ADAMTS12	81792	broad.mit.edu	37	5	33576327	33576327	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33576327G>T	uc003jia.1	-	19	3967	c.3804C>A	c.(3802-3804)CAC>CAA	p.H1268Q	ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1183Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1268	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GAAGTTTCAGGTGGTTACGGT	0.488										HNSCC(64;0.19)			56	195	---	---	---	---	PASS
GHR	2690	broad.mit.edu	37	5	42718921	42718921	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:42718921G>A	uc003jmt.2	+	10	1355	c.1312G>A	c.(1312-1314)GAT>AAT	p.D438N	GHR_uc011cpq.1_Missense_Mutation_p.D251N	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	438	Cytoplasmic (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCTTATCATGATGCTTGCCC	0.473													11	30	---	---	---	---	PASS
MRPS30	10884	broad.mit.edu	37	5	44809059	44809059	+	5'UTR	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:44809059G>T	uc003joh.2	+	1					MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30						apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					GGAATCGCGGGCAAAGATGGC	0.592													6	10	---	---	---	---	PASS
HCN1	348980	broad.mit.edu	37	5	45267203	45267203	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45267203G>T	uc003jok.2	-	7	1796	c.1771C>A	c.(1771-1773)CTA>ATA	p.L591I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	591	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ATTCGATCTAGTCGGTCAATG	0.383													24	52	---	---	---	---	PASS
PARP8	79668	broad.mit.edu	37	5	50125732	50125732	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50125732G>T	uc003jon.3	+	23	2352	c.2170G>T	c.(2170-2172)GGT>TGT	p.G724C	PARP8_uc011cpz.1_Missense_Mutation_p.G616C|PARP8_uc003joo.2_Missense_Mutation_p.G724C|PARP8_uc003jop.2_Missense_Mutation_p.G682C	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	724	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TTAGCTCCATGGTGCAATGTA	0.363													32	25	---	---	---	---	PASS
MAST4	375449	broad.mit.edu	37	5	66255124	66255124	+	Intron	SNP	T	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66255124T>G	uc003jut.1	+						MAST4_uc003jur.3_Intron|MAST4_uc010iwz.2_Intron|MAST4_uc003jus.2_Intron|MAST4_uc003juu.1_Splice_Site_p.D16_splice|MAST4_uc011cra.1_Splice_Site_p.D16_splice	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase							cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACCTTGGAGTAAGTATTGTC	0.448													15	15	---	---	---	---	PASS
MAST4	375449	broad.mit.edu	37	5	66461843	66461843	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66461843G>A	uc003jut.1	+	28	6337	c.6269G>A	c.(6268-6270)AGG>AAG	p.R2090K	MAST4_uc003juw.2_Missense_Mutation_p.R2018K|MAST4_uc003jux.2_Intron	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2282						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CACACTGACAGGGCTCCTCTA	0.647											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	7	---	---	---	---	PASS
MAST4	375449	broad.mit.edu	37	5	66461844	66461844	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66461844G>T	uc003jut.1	+	28	6338	c.6270G>T	c.(6268-6270)AGG>AGT	p.R2090S	MAST4_uc003juw.2_Missense_Mutation_p.R2018S|MAST4_uc003jux.2_Intron	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2282						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACACTGACAGGGCTCCTCTAG	0.642											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	7	---	---	---	---	PASS
CHD1	1105	broad.mit.edu	37	5	98235274	98235274	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98235274C>G	uc003knf.2	-	7	1143	c.995G>C	c.(994-996)TGG>TCG	p.W332S		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	332	Chromo 1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCTGTCTCCCAAGTGTTGTG	0.368													57	65	---	---	---	---	PASS
PCDHB8	56128	broad.mit.edu	37	5	140558688	140558688	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140558688C>T	uc011dai.1	+	1	1259	c.1073C>T	c.(1072-1074)CCT>CTT	p.P358L	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	358	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCAATACCTGAGAATGCG	0.458													49	827	---	---	---	---	PASS
PCDHB16	57717	broad.mit.edu	37	5	140564015	140564015	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140564015C>A	uc003liv.2	+	1	3036	c.1881C>A	c.(1879-1881)GCC>GCA	p.A627A	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	627	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGCACCGCCAGGCTGCTGA	0.697													41	58	---	---	---	---	PASS
PCDHB10	56126	broad.mit.edu	37	5	140572824	140572824	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140572824G>T	uc003lix.2	+	1	873	c.699G>T	c.(697-699)TTG>TTT	p.L233F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	233	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTTGTCTTGGACGTCAATG	0.552													33	29	---	---	---	---	PASS
PCDHGA1	56114	broad.mit.edu	37	5	140712227	140712227	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140712227C>T	uc003lji.1	+	1	1976	c.1976C>T	c.(1975-1977)ACG>ATG	p.T659M	PCDHGA1_uc011dan.1_Missense_Mutation_p.T659M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	659	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGTCACGCTCACCGTG	0.687													37	15	---	---	---	---	PASS
NIPAL4	348938	broad.mit.edu	37	5	156890327	156890327	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156890327G>C	uc003lwx.3	+	2	565	c.449G>C	c.(448-450)GGA>GCA	p.G150A	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.G150A|NIPAL4_uc010jin.1_Missense_Mutation_p.E85Q	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	150	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GTGGCCACGGGAGCCACTCGA	0.612													8	5	---	---	---	---	PASS
NOP16	51491	broad.mit.edu	37	5	175815445	175815445	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175815445C>T	uc011dfl.1	-	1	96	c.96G>A	c.(94-96)CCG>CCA	p.P32P	NOP16_uc003med.2_Silent_p.P32P|NOP16_uc003mee.2_Silent_p.P32P|NOP16_uc011dfm.1_Silent_p.P32P|HIGD2A_uc003meg.2_5'Flank	NM_016391	NP_057475	Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein homolog	32				PR -> RG (in Ref. 2; AAD34112 and 3; AAF29075).		nucleolus				ovary(1)|central_nervous_system(1)	2						ATTCGATCCGCGGCGCTGCCT	0.647													46	26	---	---	---	---	PASS
DOK3	79930	broad.mit.edu	37	5	176936823	176936823	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176936823C>A	uc003mhk.2	-	1	36	c.31G>T	c.(31-33)GCG>TCG	p.A11S	DOK3_uc003mhh.3_5'Flank|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	docking protein 3 isoform 1	11						cytoplasm|plasma membrane	insulin receptor binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGGCACGCGCGTCTGATCGC	0.711													6	7	---	---	---	---	PASS
NRSN1	140767	broad.mit.edu	37	6	24146060	24146060	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24146060C>T	uc010jpq.1	+	4	711	c.474C>T	c.(472-474)ATC>ATT	p.I158I		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	neurensin 1	158					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle					0						AAGAACGAATCGCAGACATCA	0.498													12	36	---	---	---	---	PASS
HIST1H3H	8357	broad.mit.edu	37	6	27776237	27776237	+	5'Flank	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27776237C>A	uc003njm.2	+						HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h						blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CCCGCGTCACCTCCAGCTGGC	0.632													4	39	---	---	---	---	PASS
OR2B6	26212	broad.mit.edu	37	6	27925264	27925264	+	Silent	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27925264A>T	uc011dkx.1	+	1	246	c.246A>T	c.(244-246)CTA>CTT	p.L82L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CACAAATGCTAGTAAATTTAT	0.433													19	66	---	---	---	---	PASS
OR14J1	442191	broad.mit.edu	37	6	29275313	29275313	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29275313C>T	uc011dln.1	+	1	847	c.847C>T	c.(847-849)CTC>TTC	p.L283F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACCTCCAACACTCAATCCAGT	0.418													4	95	---	---	---	---	PASS
DHX16	8449	broad.mit.edu	37	6	30633402	30633402	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30633402C>G	uc003nqz.2	-	5	987	c.775G>C	c.(775-777)GAC>CAC	p.D259H	DHX16_uc011dmo.1_Missense_Mutation_p.D199H	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	259					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						AGCTCCACGTCCCCAAAAAGG	0.627													29	36	---	---	---	---	PASS
KIAA1949	170954	broad.mit.edu	37	6	30645043	30645043	+	3'UTR	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30645043T>C	uc003nra.2	-	4					KIAA1949_uc003nrb.3_3'UTR	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin							cytoplasm|cytoskeleton	actin binding				0						TGTTGGAAGATGGTCACCGCC	0.542													15	29	---	---	---	---	PASS
VARS2	57176	broad.mit.edu	37	6	30892295	30892295	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30892295C>A	uc003nsc.1	+	25	3263	c.2631C>A	c.(2629-2631)GCC>GCA	p.A877A	VARS2_uc011dmx.1_Silent_p.A877A|VARS2_uc011dmy.1_Silent_p.A737A|VARS2_uc011dmz.1_Silent_p.A907A|VARS2_uc011dna.1_Silent_p.A875A|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.A315A|VARS2_uc010jsg.1_Silent_p.A249A|VARS2_uc010jsh.1_Silent_p.A21A	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	877					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						GCCCCCCTGCCCCCAGCATCT	0.682													4	23	---	---	---	---	PASS
PNPLA1	285848	broad.mit.edu	37	6	36260856	36260856	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36260856T>A	uc010jwf.2	+	3	457	c.457T>A	c.(457-459)TTC>ATC	p.F153I	PNPLA1_uc003olw.1_Missense_Mutation_p.F58I|PNPLA1_uc010jwe.1_Missense_Mutation_p.F58I	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	153	Patatin.				lipid catabolic process		hydrolase activity			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						CTGCAGCTGCTTCGTCCCGGT	0.662													24	32	---	---	---	---	PASS
DNAH8	1769	broad.mit.edu	37	6	38840381	38840381	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38840381G>T	uc003ooe.1	+	48	7009	c.6409G>T	c.(6409-6411)GTT>TTT	p.V2137F		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAAGACAACCGTTATCACGAT	0.428													22	60	---	---	---	---	PASS
GUCA1A	2978	broad.mit.edu	37	6	42141454	42141454	+	Missense_Mutation	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42141454A>C	uc003orx.2	+	3	748	c.103A>C	c.(103-105)ACC>CCC	p.T35P	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.T35P	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	35	EF-hand 1.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCCAACTCACCCTCTATGA	0.552													33	35	---	---	---	---	PASS
GUCA1A	2978	broad.mit.edu	37	6	42141463	42141463	+	Nonsense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42141463G>T	uc003orx.2	+	3	757	c.112G>T	c.(112-114)GAG>TAG	p.E38*	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Nonsense_Mutation_p.E38*	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	38	EF-hand 1.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACCCTCTATGAGTTCCGCCA	0.557													36	43	---	---	---	---	PASS
AARS2	57505	broad.mit.edu	37	6	44271932	44271932	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44271932C>A	uc010jza.1	-	14	1996	c.1993G>T	c.(1993-1995)GAT>TAT	p.D665Y	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	665					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GTGGTCACATCCAAGCGCAGC	0.592											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	21	---	---	---	---	PASS
TDRD6	221400	broad.mit.edu	37	6	46658453	46658453	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658453A>G	uc003oyj.2	+	1	2588	c.2588A>G	c.(2587-2589)AAG>AGG	p.K863R	TDRD6_uc010jze.2_Missense_Mutation_p.K857R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	863	Tudor 4.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GTATCTGTGAAGAATATTTAT	0.373													27	51	---	---	---	---	PASS
CRISP2	7180	broad.mit.edu	37	6	49660607	49660607	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49660607C>A	uc003ozq.2	-	10	867	c.611G>T	c.(610-612)AGT>ATT	p.S204I	CRISP2_uc003ozl.2_Missense_Mutation_p.S204I|CRISP2_uc003ozn.2_Missense_Mutation_p.S204I|CRISP2_uc003ozr.2_Missense_Mutation_p.S204I|CRISP2_uc003ozo.2_Missense_Mutation_p.S204I|CRISP2_uc003ozm.2_Missense_Mutation_p.S239I|CRISP2_uc003ozp.2_Missense_Mutation_p.S204I	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	204						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATACTGGCAACTATTGGCTGT	0.413													19	28	---	---	---	---	PASS
GSTA1	2938	broad.mit.edu	37	6	52656781	52656781	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52656781G>T	uc003paz.2	-							NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TTCAGGGCCTGTAATTCATAA	0.502													17	59	---	---	---	---	PASS
KLHL31	401265	broad.mit.edu	37	6	53517037	53517037	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53517037A>T	uc003pcb.3	-	3	1405	c.1264T>A	c.(1264-1266)TAC>AAC	p.Y422N	uc003pcc.1_Silent_p.V143V	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	422	Kelch 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)					CCCGCGGCGTACACGAGCCCG	0.632													29	40	---	---	---	---	PASS
C6orf142	90523	broad.mit.edu	37	6	54067042	54067042	+	Intron	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54067042A>G	uc003pcg.3	+						C6orf142_uc003pcf.2_Intron|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523							nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					GTGAGCACATACAAGAGAAAA	0.254													18	23	---	---	---	---	PASS
TINAG	27283	broad.mit.edu	37	6	54214629	54214629	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54214629C>G	uc003pcj.2	+	7	1161	c.1015C>G	c.(1015-1017)CCC>GCC	p.P339A	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	339					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAAGCCATGTCCCAACAACGT	0.443													32	26	---	---	---	---	PASS
BAI3	577	broad.mit.edu	37	6	69949024	69949024	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69949024G>C	uc003pev.3	+	20	3168	c.2720G>C	c.(2719-2721)CGC>CCC	p.R907P	BAI3_uc010kak.2_Missense_Mutation_p.R907P|BAI3_uc011dxx.1_Missense_Mutation_p.R113P|BAI3_uc003pex.1_Missense_Mutation_p.R37P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	907	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AGGTACATACGCTCTGAGAGA	0.368													55	60	---	---	---	---	PASS
SPACA1	81833	broad.mit.edu	37	6	88773941	88773941	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88773941G>T	uc003pmn.2	+							NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor							integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAAATTGGTAGGTGAATAGTG	0.408													34	95	---	---	---	---	PASS
SEC63	11231	broad.mit.edu	37	6	108227913	108227913	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108227913G>C	uc003psc.3	-	9	1071	c.802C>G	c.(802-804)CCA>GCA	p.P268A	SEC63_uc003psb.3_Missense_Mutation_p.P128A	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	268	SEC63 1.|Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTATCCGTTGGTCTGCTTGTG	0.343													39	31	---	---	---	---	PASS
REV3L	5980	broad.mit.edu	37	6	111694287	111694287	+	Silent	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111694287T>A	uc003puy.3	-	13	5594	c.5271A>T	c.(5269-5271)TCA>TCT	p.S1757S	REV3L_uc003pux.3_Silent_p.S1679S|REV3L_uc003puz.3_Silent_p.S1679S	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1757					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATCCATTATTGAGTTAGACC	0.393								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					6	107	---	---	---	---	PASS
PTPRK	5796	broad.mit.edu	37	6	128400010	128400010	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128400010T>A	uc003qbk.2	-	11	2198	c.1831A>T	c.(1831-1833)ACC>TCC	p.T611S	PTPRK_uc003qbj.2_Missense_Mutation_p.T611S|PTPRK_uc010kfc.2_Missense_Mutation_p.T611S|PTPRK_uc011ebu.1_Missense_Mutation_p.T611S|PTPRK_uc003qbl.1_Missense_Mutation_p.T481S|PTPRK_uc011ebv.1_Missense_Mutation_p.T611S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	611	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTTATTGTGGTGGCAGTTTCA	0.328													7	40	---	---	---	---	PASS
ARHGAP18	93663	broad.mit.edu	37	6	129932709	129932709	+	Nonsense_Mutation	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129932709A>C	uc003qbr.2	-	8	1180	c.1091T>G	c.(1090-1092)TTA>TGA	p.L364*	ARHGAP18_uc011ebw.1_Nonsense_Mutation_p.L364*	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	364	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AGGGATCCGTAAGAGGCCTTC	0.358													4	18	---	---	---	---	PASS
ENPP3	5169	broad.mit.edu	37	6	132014758	132014758	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132014758C>T	uc003qcu.3	+	16	1753	c.1406C>T	c.(1405-1407)GCT>GTT	p.A469V	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A469V	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	469	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAGTGGCTGGCTGTTAGGTTC	0.398													33	32	---	---	---	---	PASS
TXLNB	167838	broad.mit.edu	37	6	139610030	139610030	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139610030C>A	uc011eds.1	-	2	172	c.7G>T	c.(7-9)GCT>TCT	p.A3S		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	3						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GAGTGATTAGCCTCCATCTTG	0.453													17	10	---	---	---	---	PASS
SHPRH	257218	broad.mit.edu	37	6	146248399	146248399	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146248399C>T	uc003qlf.2	-	15	3526	c.3127G>A	c.(3127-3129)GCA>ACA	p.A1043T	SHPRH_uc003qld.2_Missense_Mutation_p.A1052T|SHPRH_uc003qle.2_Missense_Mutation_p.A1052T|SHPRH_uc003qlg.1_Missense_Mutation_p.A599T|SHPRH_uc003qlh.2_5'UTR|SHPRH_uc003qli.1_5'UTR	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1043					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATTCTGCTGCCAAGGCATAC	0.353													17	10	---	---	---	---	PASS
SYNE1	23345	broad.mit.edu	37	6	152720802	152720802	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152720802A>G	uc010kiw.2	-	48	7788	c.7186T>C	c.(7186-7188)TGC>CGC	p.C2396R	SYNE1_uc003qot.3_Missense_Mutation_p.C2403R|SYNE1_uc003qou.3_Missense_Mutation_p.C2396R|SYNE1_uc010kjb.1_Missense_Mutation_p.C2379R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2396	Spectrin 3.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTTTGGAGCACAACTGGCTC	0.502										HNSCC(10;0.0054)			11	128	---	---	---	---	PASS
SYNE1	23345	broad.mit.edu	37	6	152720890	152720890	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152720890C>A	uc010kiw.2	-	48	7700	c.7098G>T	c.(7096-7098)TTG>TTT	p.L2366F	SYNE1_uc003qot.3_Missense_Mutation_p.L2373F|SYNE1_uc003qou.3_Missense_Mutation_p.L2366F|SYNE1_uc010kjb.1_Missense_Mutation_p.L2349F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2366	Spectrin 3.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTGCGGCACAAGCTATTGA	0.423										HNSCC(10;0.0054)			52	47	---	---	---	---	PASS
LPA	4018	broad.mit.edu	37	6	160978499	160978499	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160978499C>T	uc003qtl.2	-	30	4856	c.4736G>A	c.(4735-4737)TGC>TAC	p.C1579Y		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4087	Kringle 36.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTTTCTGAGCATTGTGTCAG	0.493													7	53	---	---	---	---	PASS
CYP2W1	54905	broad.mit.edu	37	7	1026301	1026301	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1026301G>A	uc003sjq.1	+	5	700	c.687G>A	c.(685-687)CTG>CTA	p.L229L	CYP2W1_uc003sjr.1_Silent_p.L229L	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	229					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGCTCCAGCTGCACCGGCCCG	0.701													21	9	---	---	---	---	PASS
HDAC9	9734	broad.mit.edu	37	7	19035689	19035689	+	3'UTR	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:19035689G>A	uc003sui.2	+	25					HDAC9_uc003sue.2_3'UTR|HDAC9_uc003suj.2_3'UTR|HDAC9_uc003suk.2_3'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CTTGTGAAGTGCCAAGTCCCC	0.488													4	2	---	---	---	---	PASS
HOXA5	3202	broad.mit.edu	37	7	27182915	27182915	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27182915G>A	uc003syn.1	-	1	373	c.312C>T	c.(310-312)TCC>TCT	p.S104S		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	104					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCCACGGCGGAGCAGGGCA	0.736													6	7	---	---	---	---	PASS
ZNF117	51351	broad.mit.edu	37	7	64438773	64438773	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64438773T>A	uc003ttr.2	-	4	2461	c.1176A>T	c.(1174-1176)AGA>AGT	p.R392S		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	392	C2H2-type 11; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGCCAGATTCTCTACATTTGT	0.393													5	134	---	---	---	---	PASS
SEMA3E	9723	broad.mit.edu	37	7	83034833	83034833	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83034833C>A	uc003uhy.1	-	9	1397	c.931G>T	c.(931-933)GAC>TAC	p.D311Y		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	311	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				AAAAAAACGTCCTCTGAAAAA	0.313													11	22	---	---	---	---	PASS
SLC25A13	10165	broad.mit.edu	37	7	95818693	95818693	+	Intron	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95818693G>A	uc003uof.3	-						SLC25A13_uc003uog.3_Intron|SLC25A13_uc011kik.1_Intron	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2						ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCATACGTCTGTAGGGGAAAA	0.383													10	37	---	---	---	---	PASS
ZNF498	221785	broad.mit.edu	37	7	99227148	99227148	+	Missense_Mutation	SNP	T	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99227148T>G	uc003url.1	+	8	1467	c.1140T>G	c.(1138-1140)TGT>TGG	p.C380W	ZNF498_uc003urm.1_Missense_Mutation_p.C216W|ZNF498_uc010lge.1_Missense_Mutation_p.C216W|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.C308W|ZNF498_uc003uro.1_Missense_Mutation_p.C164W	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	380	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GTGTGGAGTGTGGGAAGGGCT	0.552													28	27	---	---	---	---	PASS
RELN	5649	broad.mit.edu	37	7	103417016	103417016	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103417016A>T	uc003vca.2	-	4	692	c.532T>A	c.(532-534)TGT>AGT	p.C178S	RELN_uc010liz.2_Missense_Mutation_p.C178S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	178	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTGTTCACACAACTGCTGG	0.393													43	49	---	---	---	---	PASS
CDHR3	222256	broad.mit.edu	37	7	105621509	105621509	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105621509C>A	uc003vdl.3	+	3	453	c.345C>A	c.(343-345)GAC>GAA	p.D115E	CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.D102E|CDHR3_uc011klt.1_Missense_Mutation_p.D27E	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	115	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GTGTCACAGACCTGCAAGTCC	0.463													10	7	---	---	---	---	PASS
NAMPT	10135	broad.mit.edu	37	7	105893566	105893566	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105893566G>C	uc003vdq.2	-	10	1570	c.1262C>G	c.(1261-1263)CCC>CGC	p.P421R		NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	421					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			large_intestine(1)	1						CCTTTTGTTGGGATCAGCAAC	0.403													14	65	---	---	---	---	PASS
CBLL1	79872	broad.mit.edu	37	7	107398612	107398612	+	Missense_Mutation	SNP	T	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107398612T>G	uc003veq.2	+	6	795	c.465T>G	c.(463-465)ATT>ATG	p.I155M	CBLL1_uc011kme.1_Missense_Mutation_p.I34M|CBLL1_uc011kmf.1_Missense_Mutation_p.I154M	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	155					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						TGCAGCGAATTGAGCAGTGTA	0.363													47	41	---	---	---	---	PASS
CTTNBP2	83992	broad.mit.edu	37	7	117450849	117450849	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117450849C>T	uc003vjf.2	-	3	476	c.384G>A	c.(382-384)CAG>CAA	p.Q128Q		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	128	Potential.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGCAGCCAGCTGTGCGGACA	0.493													12	170	---	---	---	---	PASS
RNF133	168433	broad.mit.edu	37	7	122338528	122338528	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122338528C>T	uc003vkj.1	-	1	681	c.445G>A	c.(445-447)GAT>AAT	p.D149N	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	149	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						ACAACGACATCTTCAAATGCC	0.433													41	34	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	7	142510506	142510506	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142510506T>C	uc003wbp.2	-	2	212	c.100A>G	c.(100-102)AGC>GGC	p.S34G						SubName: Full=V_segment translation product; Flags: Fragment;																		GAGAGCGGGCTGCCCACAGGC	0.577													3	4	---	---	---	---	PASS
CASP2	835	broad.mit.edu	37	7	142989494	142989494	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142989494C>T	uc003wco.2	+	3	474	c.327C>T	c.(325-327)ACC>ACT	p.T109T	CASP2_uc003wcp.2_Intron|CASP2_uc011kta.1_Intron|CASP2_uc003wcq.2_RNA	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	109	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			lung(2)|ovary(1)	3	Melanoma(164;0.059)					TGAGGGAGACCAAGCAAGGCC	0.522													7	55	---	---	---	---	PASS
TAS2R60	338398	broad.mit.edu	37	7	143141054	143141054	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143141054A>G	uc011ktg.1	+	1	509	c.509A>G	c.(508-510)TAT>TGT	p.Y170C	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	170	Extracellular (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					TATCAGAACTATTTAAGGAAC	0.433													5	114	---	---	---	---	PASS
MLL3	58508	broad.mit.edu	37	7	151860104	151860104	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151860104G>A	uc003wla.2	-	43	10777	c.10558C>T	c.(10558-10560)CCA>TCA	p.P3520S	MLL3_uc003wkz.2_Missense_Mutation_p.P2581S|MLL3_uc003wky.2_Missense_Mutation_p.P1029S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3520					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGATTGATGGTGAATCAGGA	0.463			N		medulloblastoma								6	89	---	---	---	---	PASS
CNPY1	285888	broad.mit.edu	37	7	155295777	155295777	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155295777G>T	uc003wmc.1	-	4	410	c.265C>A	c.(265-267)CAT>AAT	p.H89N		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	canopy 1 homolog	89											0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGCTCAGTATGATTAGCAGAA	0.383													9	4	---	---	---	---	PASS
NCAPG2	54892	broad.mit.edu	37	7	158445095	158445095	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158445095C>A	uc003wnv.1	-	23	2969	c.2824G>T	c.(2824-2826)GAT>TAT	p.D942Y	NCAPG2_uc010lqu.1_Missense_Mutation_p.D734Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D942Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.D942Y|NCAPG2_uc011kwc.1_Missense_Mutation_p.D443Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D385Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	942					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCATCTGAATCTGTTTTCTGA	0.363													5	68	---	---	---	---	PASS
CSMD1	64478	broad.mit.edu	37	8	3200838	3200838	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3200838T>A	uc011kwk.1	-	23	4002	c.3612A>T	c.(3610-3612)CAA>CAT	p.Q1204H	CSMD1_uc011kwj.1_Missense_Mutation_p.Q596H|CSMD1_uc003wqe.2_Missense_Mutation_p.Q360H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1204	Extracellular (Potential).|CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGAAAACCTTGGTCGGTGT	0.398													23	15	---	---	---	---	PASS
FAM167A	83648	broad.mit.edu	37	8	11301903	11301903	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11301903G>C	uc010lry.1	-	2	638	c.18C>G	c.(16-18)ATC>ATG	p.I6M	FAM167A_uc003wtw.2_Missense_Mutation_p.I6M	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	6											0						CTTCCACGTGGATCTGGGGCA	0.672													55	60	---	---	---	---	PASS
DLC1	10395	broad.mit.edu	37	8	13072243	13072243	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13072243G>T	uc003wwm.2	-						DLC1_uc003wwl.1_Intron|DLC1_uc003wwn.2_Missense_Mutation_p.S463R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1						actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						ATCCCTTTGTGCTCTTATCTT	0.443													25	28	---	---	---	---	PASS
SGCZ	137868	broad.mit.edu	37	8	14412337	14412337	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:14412337C>T	uc003wwq.2	-	2	798	c.138G>A	c.(136-138)AAG>AAA	p.K46K	SGCZ_uc010lss.2_Silent_p.K33K	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	33	Cytoplasmic (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATAAGCACCTCTTTCGCCATC	0.393													5	99	---	---	---	---	PASS
PIWIL2	55124	broad.mit.edu	37	8	22165558	22165558	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22165558G>T	uc003xbn.2	+	14	1806	c.1658G>T	c.(1657-1659)GGG>GTG	p.G553V	PIWIL2_uc011kzf.1_Missense_Mutation_p.G553V|PIWIL2_uc010ltv.2_Missense_Mutation_p.G553V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	553					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGCGTTGGGGGCTCCGTCTG	0.443													4	7	---	---	---	---	PASS
TMEM66	51669	broad.mit.edu	37	8	29927179	29927179	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29927179C>A	uc003xhs.2	-	3	863	c.679G>T	c.(679-681)GGC>TGC	p.G227C	TMEM66_uc003xht.2_Missense_Mutation_p.G227C|TMEM66_uc003xhu.2_Missense_Mutation_p.G191C|TMEM66_uc003xhv.2_Missense_Mutation_p.G55C	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	transmembrane protein 66 precursor	227						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GACTTAAAGCCTGGGGGAGGA	0.502													22	21	---	---	---	---	PASS
UNC5D	137970	broad.mit.edu	37	8	35579873	35579873	+	Silent	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:35579873A>T	uc003xjr.1	+	9	1591	c.1263A>T	c.(1261-1263)ACA>ACT	p.T421T	UNC5D_uc003xjs.1_Silent_p.T416T|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Silent_p.T179T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	421	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGCATTGACAGGTGGCTTCC	0.552													49	41	---	---	---	---	PASS
PRKDC	5591	broad.mit.edu	37	8	48706936	48706936	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48706936T>C	uc003xqi.2	-	75	10642	c.10585A>G	c.(10585-10587)ATT>GTT	p.I3529V	PRKDC_uc003xqj.2_Missense_Mutation_p.I3529V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3529	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGATAAACAATAGCCTGCGGG	0.443								NHEJ					7	19	---	---	---	---	PASS
ST18	9705	broad.mit.edu	37	8	53092677	53092677	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53092677G>T	uc003xqz.2	-						ST18_uc011ldq.1_Intron|ST18_uc011ldr.1_Intron|ST18_uc011lds.1_Intron|ST18_uc003xra.2_Intron|ST18_uc003xrb.2_Intron	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18							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)				TCTCCTCCTTGCTACCTGCGG	0.512													5	149	---	---	---	---	PASS
XKR4	114786	broad.mit.edu	37	8	56015839	56015839	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56015839T>A	uc003xsf.2	+	1	823	c.791T>A	c.(790-792)CTC>CAC	p.L264H		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	264	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATCTTGCAGCTCGGGCAAATC	0.572													15	35	---	---	---	---	PASS
FAM110B	90362	broad.mit.edu	37	8	59059317	59059317	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59059317G>C	uc003xtj.1	+	5	1408	c.528G>C	c.(526-528)GAG>GAC	p.E176D		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	176						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCCCGCAGGAGGGCGGCTCCC	0.677													7	16	---	---	---	---	PASS
RAB2A	5862	broad.mit.edu	37	8	61484660	61484660	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61484660G>T	uc003xud.1	+	3	382	c.174G>T	c.(172-174)CAG>CAT	p.Q58H	RAB2A_uc011lef.1_Missense_Mutation_p.Q34H	NM_002865	NP_002856	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	58					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity				0			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TAAAACTTCAGATATGGGATA	0.318													10	23	---	---	---	---	PASS
PREX2	80243	broad.mit.edu	37	8	69104662	69104662	+	Silent	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69104662T>A	uc003xxv.1	+	37	4533	c.4506T>A	c.(4504-4506)GCT>GCA	p.A1502A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1502					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAAACACAGCTTGCAGTGCTT	0.552													5	18	---	---	---	---	PASS
SLCO5A1	81796	broad.mit.edu	37	8	70744523	70744523	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70744523C>A	uc003xyl.2	-	2	1093	c.386G>T	c.(385-387)TGC>TTC	p.C129F	SLCO5A1_uc010lzb.2_Missense_Mutation_p.C129F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C129F|SLCO5A1_uc010lzc.2_Missense_Mutation_p.C129F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	129	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACCAGGAAGCAACGGGAATC	0.552											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26	---	---	---	---	PASS
KCNB2	9312	broad.mit.edu	37	8	73849404	73849404	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73849404G>T	uc003xzb.2	+	3	2402	c.1814G>T	c.(1813-1815)AGC>ATC	p.S605I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	605	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AGCATCGACAGCTTCACCAGC	0.582													17	45	---	---	---	---	PASS
OSR2	116039	broad.mit.edu	37	8	99961377	99961377	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99961377G>C	uc003yir.2	+	2	732	c.197G>C	c.(196-198)CGC>CCC	p.R66P	OSR2_uc010mbn.2_Missense_Mutation_p.R66P|OSR2_uc003yiq.2_Missense_Mutation_p.R66P|OSR2_uc011lgx.1_Missense_Mutation_p.R187P	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	66					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GAGATCACCCGCTCCACCATC	0.647													22	32	---	---	---	---	PASS
ZFPM2	23414	broad.mit.edu	37	8	106810992	106810992	+	Silent	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:106810992G>T	uc003ymd.2	+	7	803	c.780G>T	c.(778-780)CGG>CGT	p.R260R	ZFPM2_uc011lhs.1_5'UTR|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	260	C2HC-type 1.				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGGTATCGGAGTGAGCGGA	0.488													9	28	---	---	---	---	PASS
CSMD3	114788	broad.mit.edu	37	8	114111122	114111122	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:114111122C>A	uc003ynu.2	-	5	939	c.780G>T	c.(778-780)GAG>GAT	p.E260D	CSMD3_uc003ynt.2_Missense_Mutation_p.E220D|CSMD3_uc011lhx.1_Missense_Mutation_p.E260D|CSMD3_uc010mcx.1_Missense_Mutation_p.E260D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	260	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGTTATGGTACTCATTAGGAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	34	---	---	---	---	PASS
EXT1	2131	broad.mit.edu	37	8	119122650	119122650	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119122650G>A	uc003yok.1	-	1	1409	c.636C>T	c.(634-636)GGC>GGT	p.G212G		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	212	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GCATCGCCTGGCCGATGTCAA	0.468			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				63	65	---	---	---	---	PASS
DEPDC6	64798	broad.mit.edu	37	8	120940741	120940741	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120940741A>T	uc003yow.3	+	2	411	c.224A>T	c.(223-225)GAA>GTA	p.E75V	DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	75	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGCTGATTGAACACAAAGAG	0.458													40	40	---	---	---	---	PASS
ZFAT	57623	broad.mit.edu	37	8	135614255	135614255	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:135614255G>A	uc003yup.2	-	6	1882	c.1707C>T	c.(1705-1707)AGC>AGT	p.S569S	ZFAT_uc003yun.2_Silent_p.S557S|ZFAT_uc003yuo.2_Silent_p.S557S|ZFAT_uc010meh.2_Silent_p.S557S|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.S557S|ZFAT_uc010mej.2_Silent_p.S507S|ZFAT_uc003yur.2_Silent_p.S557S	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCAGGGCTGTGCTTTCGGCCT	0.597													16	20	---	---	---	---	PASS
EIF2C2	27161	broad.mit.edu	37	8	141583033	141583033	+	Splice_Site	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141583033T>A	uc003yvn.2	-	3	256	c.216_splice	c.e3-1	p.R72_splice	EIF2C2_uc010men.2_Splice_Site|EIF2C2_uc010meo.2_Splice_Site_p.R72_splice	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1						mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			ACGATTTCCCTGAAACAAAGA	0.383													25	50	---	---	---	---	PASS
OPLAH	26873	broad.mit.edu	37	8	145112765	145112765	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145112765G>A	uc003zar.3	-	9	1232	c.1150C>T	c.(1150-1152)CGC>TGC	p.R384C	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Missense_Mutation_p.R162C	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	384							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TTACCTTTGCGGTAGCAGGCG	0.662													6	12	---	---	---	---	PASS
HAUS6	54801	broad.mit.edu	37	9	19096745	19096745	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19096745G>A	uc003znk.2	-	2	404	c.151C>T	c.(151-153)CGT>TGT	p.R51C		NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	51					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						AAGGCATCACGGTTCAGCTTG	0.299													8	4	---	---	---	---	PASS
CDKN2A	1029	broad.mit.edu	37	9	21974768	21974768	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21974768G>T	uc003zpk.2	-	1	271	c.59C>A	c.(58-60)GCG>GAG	p.A20E	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.A20E|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	20	ANK 1.		A -> P (in a lung tumor and melanoma).|A -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.A20E(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.M9_A20>X(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCCGGGCCGCGGCCGTGGC	0.736		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	8	---	---	---	---	PASS
LINGO2	158038	broad.mit.edu	37	9	27949549	27949549	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27949549T>A	uc003zqu.1	-	2	1315	c.1121A>T	c.(1120-1122)CAG>CTG	p.Q374L	LINGO2_uc010mjf.1_Missense_Mutation_p.Q374L|LINGO2_uc003zqv.1_Missense_Mutation_p.Q374L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	374	LRRCT.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCCACCAAACTGCAGGGTGGG	0.542													22	17	---	---	---	---	PASS
FBXO10	26267	broad.mit.edu	37	9	37537356	37537356	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37537356C>T	uc004aab.2	-	3	1219	c.1170G>A	c.(1168-1170)CTG>CTA	p.L390L	FBXO10_uc004aac.2_Silent_p.L406L|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	390						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		GAGGTGGGCCCAGAAATGAGC	0.587													3	1	---	---	---	---	PASS
CBWD6	644019	broad.mit.edu	37	9	69238318	69238318	+	Splice_Site	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69238318T>A	uc004afj.3	-	8	682	c.576_splice	c.e8-1	p.R192_splice	CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding				0						GCAACTTGCCTAAAATAGCAA	0.269													7	64	---	---	---	---	PASS
PTCH1	5727	broad.mit.edu	37	9	98215785	98215785	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98215785C>T	uc004avk.3	-	20	3612	c.3424G>A	c.(3424-3426)GGA>AGA	p.G1142R	PTCH1_uc010mro.2_Missense_Mutation_p.G991R|PTCH1_uc010mrp.2_Missense_Mutation_p.G991R|PTCH1_uc010mrq.2_Missense_Mutation_p.G991R|PTCH1_uc004avl.3_Missense_Mutation_p.G991R|PTCH1_uc010mrr.2_Missense_Mutation_p.G1076R|PTCH1_uc004avm.3_Missense_Mutation_p.G1141R	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1142	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACTCAGATCCCGCCAGCATC	0.483									Basal_Cell_Nevus_syndrome				27	19	---	---	---	---	PASS
C9orf4	23732	broad.mit.edu	37	9	111899836	111899836	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111899836C>A	uc004bdw.1	-	5	934	c.934G>T	c.(934-936)GAC>TAC	p.D312Y		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	hypothetical protein LOC23732	312						integral to membrane					0						ATAAAAATGTCTTCATACTTG	0.433													49	31	---	---	---	---	PASS
RABGAP1	23637	broad.mit.edu	37	9	125827752	125827752	+	Intron	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125827752C>A	uc011lzh.1	+						RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Intron	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TATTTCATGTCAAAAAAAAAA	0.348													4	20	---	---	---	---	PASS
SFMBT2	57713	broad.mit.edu	37	10	7239578	7239578	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7239578T>C	uc009xio.1	-	15	1721	c.1630A>G	c.(1630-1632)AAC>GAC	p.N544D	SFMBT2_uc001ijn.1_Missense_Mutation_p.N544D|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	544					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CTTCCTTTGTTCAGGTAAGGG	0.517													29	29	---	---	---	---	PASS
CREM	1390	broad.mit.edu	37	10	35500642	35500642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35500642C>T	uc001iyb.2	+	8	976	c.814C>T	c.(814-816)CGA>TGA	p.R272*	CREM_uc001ixy.2_Nonsense_Mutation_p.R68*|CREM_uc001ixz.2_3'UTR|CREM_uc001iya.2_3'UTR|CREM_uc001iyc.2_Nonsense_Mutation_p.R193*|CREM_uc001iyd.2_3'UTR|CREM_uc001iye.2_3'UTR|CREM_uc001iyf.2_Nonsense_Mutation_p.R242*|CREM_uc001iyg.2_Nonsense_Mutation_p.R179*|CREM_uc001iyh.2_Nonsense_Mutation_p.R217*|CREM_uc001iyi.2_Nonsense_Mutation_p.R154*|CREM_uc001iyj.2_Nonsense_Mutation_p.R151*|CREM_uc001iyk.2_3'UTR|CREM_uc001iyl.2_Nonsense_Mutation_p.R93*|CREM_uc001iym.2_3'UTR|CREM_uc001iyn.2_Nonsense_Mutation_p.R81*|CREM_uc001iyo.2_3'UTR|CREM_uc001iyp.2_3'UTR|CREM_uc001iyq.2_Nonsense_Mutation_p.R85*|CREM_uc001iyr.2_3'UTR|CREM_uc001iys.2_Nonsense_Mutation_p.R68*|CREM_uc001iyt.2_3'UTR	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	333	Leucine-zipper (By similarity).				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCTGGAGAGCCGAGTTGCAGT	0.388													20	17	---	---	---	---	PASS
CREM	1390	broad.mit.edu	37	10	35500644	35500644	+	Silent	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35500644A>C	uc001iyb.2	+	8	978	c.816A>C	c.(814-816)CGA>CGC	p.R272R	CREM_uc001ixy.2_Silent_p.R68R|CREM_uc001ixz.2_3'UTR|CREM_uc001iya.2_3'UTR|CREM_uc001iyc.2_Silent_p.R193R|CREM_uc001iyd.2_3'UTR|CREM_uc001iye.2_3'UTR|CREM_uc001iyf.2_Silent_p.R242R|CREM_uc001iyg.2_Silent_p.R179R|CREM_uc001iyh.2_Silent_p.R217R|CREM_uc001iyi.2_Silent_p.R154R|CREM_uc001iyj.2_Silent_p.R151R|CREM_uc001iyk.2_3'UTR|CREM_uc001iyl.2_Silent_p.R93R|CREM_uc001iym.2_3'UTR|CREM_uc001iyn.2_Silent_p.R81R|CREM_uc001iyo.2_3'UTR|CREM_uc001iyp.2_3'UTR|CREM_uc001iyq.2_Silent_p.R85R|CREM_uc001iyr.2_3'UTR|CREM_uc001iys.2_Silent_p.R68R|CREM_uc001iyt.2_3'UTR	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	333	Leucine-zipper (By similarity).				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGGAGAGCCGAGTTGCAGTGC	0.383													21	16	---	---	---	---	PASS
ZNF33A	7581	broad.mit.edu	37	10	38343433	38343433	+	Missense_Mutation	SNP	T	A	A	rs150308253		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38343433T>A	uc001izh.2	+	5	556	c.378T>A	c.(376-378)AAT>AAA	p.N126K	ZNF33A_uc001izg.2_Missense_Mutation_p.N127K|ZNF33A_uc010qev.1_Missense_Mutation_p.N133K|ZNF33A_uc001izi.1_Missense_Mutation_p.N127K	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	126						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						TACCATTTAATGTGGATGTAA	0.343													24	24	---	---	---	---	PASS
SGMS1	259230	broad.mit.edu	37	10	52103495	52103495	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52103495T>A	uc001jje.2	-	7	1334	c.380A>T	c.(379-381)CAG>CTG	p.Q127L	SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.Q127L|SGMS1_uc010qhl.1_RNA	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	133					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			ovary(1)|kidney(1)	2						CATGGGGTACTGAGAGCGCTC	0.502													33	49	---	---	---	---	PASS
MBL2	4153	broad.mit.edu	37	10	54529030	54529030	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54529030G>A	uc001jjt.2	-	3	415	c.350C>T	c.(349-351)ACA>ATA	p.T117I		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	117					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						TGCCATTTCTGTTTGCAGAGC	0.383													31	73	---	---	---	---	PASS
PCDH15	65217	broad.mit.edu	37	10	55582004	55582004	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55582004G>T	uc001jju.1	-	33	5877	c.5482C>A	c.(5482-5484)CCT>ACT	p.P1828T	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1825T|PCDH15_uc010qhw.1_Missense_Mutation_p.P1788T|PCDH15_uc010qhx.1_Missense_Mutation_p.P1759T|PCDH15_uc010qhy.1_Missense_Mutation_p.P1835T|PCDH15_uc010qhz.1_Missense_Mutation_p.P1830T|PCDH15_uc010qia.1_Missense_Mutation_p.P1808T|PCDH15_uc010qib.1_Missense_Mutation_p.P1805T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1828	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaggtggagggcaaggaata	0.279										HNSCC(58;0.16)			23	49	---	---	---	---	PASS
PCDH15	65217	broad.mit.edu	37	10	55582375	55582375	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55582375C>A	uc001jju.1	-	33	5506	c.5111G>T	c.(5110-5112)AGG>ATG	p.R1704M	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1701M|PCDH15_uc010qhw.1_Missense_Mutation_p.R1664M|PCDH15_uc010qhx.1_Missense_Mutation_p.R1635M|PCDH15_uc010qhy.1_Missense_Mutation_p.R1711M|PCDH15_uc010qhz.1_Missense_Mutation_p.R1706M|PCDH15_uc010qia.1_Missense_Mutation_p.R1684M|PCDH15_uc010qib.1_Missense_Mutation_p.R1681M	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1704	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				AACACAAGGCCTTGAAGGAGA	0.388										HNSCC(58;0.16)			19	35	---	---	---	---	PASS
TMEM26	219623	broad.mit.edu	37	10	63212657	63212657	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63212657G>A	uc001jlo.2	-	1	552	c.183C>T	c.(181-183)GGC>GGT	p.G61G	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	61						integral to membrane					0	Prostate(12;0.0112)					ACCATTTGTAGCCTCTGCCGC	0.632													46	55	---	---	---	---	PASS
PPP3CB	5532	broad.mit.edu	37	10	75231333	75231333	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75231333T>C	uc001jue.2	-	5	697	c.562A>G	c.(562-564)ATG>GTG	p.M188V	PPP3CB_uc001juf.2_Missense_Mutation_p.M188V|PPP3CB_uc001jug.2_Missense_Mutation_p.M188V|PPP3CB_uc001jui.2_Missense_Mutation_p.M206V|PPP3CB_uc001juh.2_Missense_Mutation_p.M102V	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	188	Catalytic.									skin(1)	1	Prostate(51;0.0119)					AAAGCTTCCATACAAGCTTCA	0.338													17	61	---	---	---	---	PASS
FAM22A	728118	broad.mit.edu	37	10	88985864	88985864	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88985864G>A	uc001kek.2	+	1	660	c.277G>A	c.(277-279)GGT>AGT	p.G93S	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	93											0						AGGAGCATCTGGTGAGCCAGG	0.542													29	10	---	---	---	---	PASS
CNNM1	26507	broad.mit.edu	37	10	101090567	101090567	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101090567A>G	uc001kpp.3	+	1	1712	c.1423A>G	c.(1423-1425)ATT>GTT	p.I475V	CNNM1_uc009xwe.2_Missense_Mutation_p.I475V|CNNM1_uc010qpi.1_Missense_Mutation_p.I475V|CNNM1_uc009xwf.2_Missense_Mutation_p.I475V	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	475	CBS 1.				ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCGGCACAACATTGTGGACAT	0.607													18	20	---	---	---	---	PASS
SLC25A28	81894	broad.mit.edu	37	10	101371025	101371025	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101371025G>A	uc001kpx.2	-	4	805	c.676C>T	c.(676-678)CGC>TGC	p.R226C	SLC25A28_uc001kpy.2_Missense_Mutation_p.R39C	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	226	Solcar 2.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GTGTAGCTGCGGTAAAAGGCC	0.532													28	52	---	---	---	---	PASS
CUTC	51076	broad.mit.edu	37	10	101514391	101514391	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101514391G>A	uc001kqd.3	+	8	855	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	236					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ATGAAGTTTCGGTAAAAATGT	0.378													38	96	---	---	---	---	PASS
SORCS3	22986	broad.mit.edu	37	10	106737162	106737162	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106737162C>A	uc001kyi.1	+	4	1092	c.865C>A	c.(865-867)CAG>AAG	p.Q289K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	289	BNR 2.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGCGACCTATCAGAAGTATCG	0.458													18	31	---	---	---	---	PASS
SORCS1	114815	broad.mit.edu	37	10	108339127	108339127	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108339127C>A	uc001kym.2	-	25	3379	c.3371G>T	c.(3370-3372)AGG>ATG	p.R1124M	SORCS1_uc001kyl.2_Missense_Mutation_p.R1124M|SORCS1_uc009xxs.2_Missense_Mutation_p.R1124M|SORCS1_uc001kyn.1_Missense_Mutation_p.R1124M|SORCS1_uc001kyo.2_Missense_Mutation_p.R1124M	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	1124	Cytoplasmic (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGACACGCACCTTTTAAACTT	0.532													10	35	---	---	---	---	PASS
SMC3	9126	broad.mit.edu	37	10	112357972	112357972	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112357972C>G	uc001kze.2	+	20	2318	c.2192C>G	c.(2191-2193)TCT>TGT	p.S731C		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	731	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTTAAAGCATCTAGAGATAGC	0.348													55	104	---	---	---	---	PASS
KCNK18	338567	broad.mit.edu	37	10	118956995	118956995	+	5'Flank	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118956995G>T	uc010qsr.1	+							NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18							integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		CATGCTTCAGGGACGATGGAG	0.637													25	68	---	---	---	---	PASS
PPAPDC1A	196051	broad.mit.edu	37	10	122348807	122348807	+	Intron	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:122348807C>G	uc001lev.1	+						PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Intron	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain						phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTGCTGTTTCCTGCCTAGATT	0.448													38	89	---	---	---	---	PASS
PLEKHA1	59338	broad.mit.edu	37	10	124175428	124175428	+	Silent	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124175428G>T	uc001lge.1	+	7	645	c.522G>T	c.(520-522)CGG>CGT	p.R174R	PLEKHA1_uc001lgf.1_Silent_p.R174R|PLEKHA1_uc001lgg.1_Silent_p.R174R|PLEKHA1_uc001lgh.2_Silent_p.R174R	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	174					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATCTGAAACGGTCACAAAGCC	0.343													15	23	---	---	---	---	PASS
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	C	C	rs121913233		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:533874T>C	uc001lpv.2	-	3	370	c.182A>G	c.(181-183)CAG>CGG	p.Q61R	HRAS_uc010qvw.1_Missense_Mutation_p.Q61R|HRAS_uc010qvx.1_Missense_Mutation_p.Q61R|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	61	GTP.		Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).	Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines.	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(112)|p.Q61L(93)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(NCIH1915_LUNG)|Q61L(KYSE30_OESOPHAGUS)	6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			4	54	---	---	---	---	PASS
MUC5B	727897	broad.mit.edu	37	11	1256457	1256457	+	Intron	SNP	C	A	A	rs56252247	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1256457C>A	uc009ycr.1	+						MUC5B_uc009yct.1_Intron|MUC5B_uc001ltb.2_Intron|MUC5B_uc001lta.2_Intron	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCCAGGTACGCCGCCCCCT	0.647													13	21	---	---	---	---	PASS
NAP1L4	4676	broad.mit.edu	37	11	2985954	2985954	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2985954G>A	uc001lxc.2	-	8	703	c.562C>T	c.(562-564)CTG>TTG	p.L188L	NAP1L4_uc010qxm.1_Silent_p.L188L|NAP1L4_uc010qxn.1_Silent_p.L188L|SNORA54_uc001lxd.1_5'Flank	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	188					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		ATATCCTGCAGGTGTTTCAAG	0.398													7	10	---	---	---	---	PASS
OR52N2	390077	broad.mit.edu	37	11	5842195	5842195	+	Silent	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5842195G>T	uc010qzp.1	+	1	630	c.630G>T	c.(628-630)GTG>GTT	p.V210V	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATTGGTGTGTTTGATATCT	0.458													69	61	---	---	---	---	PASS
NELL1	4745	broad.mit.edu	37	11	20699477	20699477	+	Splice_Site	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20699477G>A	uc001mqe.2	+	2	209	c.56_splice	c.e2-1	p.V19_splice	NELL1_uc001mqf.2_Splice_Site_p.V19_splice|NELL1_uc009yid.2_Splice_Site_p.V47_splice|NELL1_uc010rdo.1_Splice_Site_p.V19_splice|NELL1_uc010rdp.1_Splice_Site	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor						cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TTCCTTTCCAGTGGTGGGCTT	0.498													28	16	---	---	---	---	PASS
API5	8539	broad.mit.edu	37	11	43344985	43344985	+	Silent	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43344985A>T	uc010rfh.1	+	6	722	c.549A>T	c.(547-549)CTA>CTT	p.L183L	API5_uc010rfg.1_Silent_p.L172L|API5_uc001mxf.2_Silent_p.L183L|API5_uc010rfi.1_Silent_p.L129L|API5_uc001mxg.2_Silent_p.L57L	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	183					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TCCAGGTCCTAGAAGATGTGA	0.358													15	11	---	---	---	---	PASS
EXT2	2132	broad.mit.edu	37	11	44146335	44146335	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44146335G>T	uc001mxz.2	+						EXT2_uc010rfo.1_Intron|EXT2_uc001mxy.2_Intron|EXT2_uc009ykt.2_Intron|EXT2_uc001mya.2_Intron	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2						glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						TTTTTCCCTTGTAGTCCACGG	0.438			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				21	21	---	---	---	---	PASS
CHRM4	1132	broad.mit.edu	37	11	46407307	46407307	+	Silent	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46407307C>G	uc001nct.1	-	1	801	c.801G>C	c.(799-801)CTG>CTC	p.L267L		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	267	Cytoplasmic (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGCCATTGCGCAGCTCCTCCC	0.662													4	14	---	---	---	---	PASS
OR4C12	283093	broad.mit.edu	37	11	50003963	50003963	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:50003963C>A	uc010ria.1	-	1	75	c.75G>T	c.(73-75)ACG>ACT	p.T25T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	25	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						ATACTACAAACGTGACTTTCT	0.408													9	49	---	---	---	---	PASS
OR5D16	390144	broad.mit.edu	37	11	55606555	55606555	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55606555G>C	uc010rio.1	+	1	328	c.328G>C	c.(328-330)GTA>CTA	p.V110L		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TTGCACCTTTGTAGTGACTGA	0.433													35	120	---	---	---	---	PASS
OR5I1	10798	broad.mit.edu	37	11	55703463	55703463	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703463C>T	uc010ris.1	-	1	414	c.414G>A	c.(412-414)ATG>ATA	p.M138I		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGCCCCTAGACATCACAACTG	0.443													9	22	---	---	---	---	PASS
OR5F1	338674	broad.mit.edu	37	11	55761731	55761731	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761731G>T	uc010riv.1	-	1	371	c.371C>A	c.(370-372)GCG>GAG	p.A124E		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					ACATATGGCCGCATACCTGTC	0.507													6	40	---	---	---	---	PASS
OR5T1	390155	broad.mit.edu	37	11	56043272	56043272	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043272G>T	uc001nio.1	+	1	158	c.158G>T	c.(157-159)GGC>GTC	p.G53V		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	53	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					ACTCTAATAGGCAATTTAGGG	0.348													12	56	---	---	---	---	PASS
OR5T1	390155	broad.mit.edu	37	11	56043836	56043836	+	Missense_Mutation	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043836A>C	uc001nio.1	+	1	722	c.722A>C	c.(721-723)CAG>CCG	p.Q241P		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					CTGAAGATGCAGTCTGCTGAA	0.428													49	83	---	---	---	---	PASS
OR5T1	390155	broad.mit.edu	37	11	56043837	56043837	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043837G>T	uc001nio.1	+	1	723	c.723G>T	c.(721-723)CAG>CAT	p.Q241H		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TGAAGATGCAGTCTGCTGAAG	0.423													51	84	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	11	56143666	56143666	+	IGR	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56143666C>T								OR8J1 (14995 upstream) : OR5R1 (41070 downstream)																							GGCTAACTTGCTCAGACACTC	0.453													21	133	---	---	---	---	PASS
OR5M9	390162	broad.mit.edu	37	11	56230024	56230024	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56230024G>T	uc010rjj.1	-	1	854	c.854C>A	c.(853-855)CCC>CAC	p.P285H		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					GTAGATCATGGGATTCAACAT	0.423													15	61	---	---	---	---	PASS
OR5M9	390162	broad.mit.edu	37	11	56230412	56230412	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56230412T>C	uc010rjj.1	-	1	466	c.466A>G	c.(466-468)ATA>GTA	p.I156V		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					AGTGTGCATATTAGGCTGACA	0.463													31	43	---	---	---	---	PASS
OR5M1	390168	broad.mit.edu	37	11	56380693	56380693	+	Nonsense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56380693C>A	uc001nja.1	-	1	286	c.286G>T	c.(286-288)GGA>TGA	p.G96*		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GTGAAGCATCCAGCGTAGGAG	0.463													14	43	---	---	---	---	PASS
SLC43A1	8501	broad.mit.edu	37	11	57268684	57268684	+	Silent	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57268684G>C	uc001nkk.2	-	3	391	c.273C>G	c.(271-273)ACC>ACG	p.T91T	SLC43A1_uc001nkl.2_Silent_p.T91T	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	91	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						CCAGTGGCAGGGTGGTGGCGC	0.662													21	25	---	---	---	---	PASS
OR9I1	219954	broad.mit.edu	37	11	57886380	57886380	+	Missense_Mutation	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57886380A>C	uc001nml.1	-	1	537	c.537T>G	c.(535-537)TGT>TGG	p.C179W	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				GTGGGAGGTCACAGAAGAAGA	0.493													9	16	---	---	---	---	PASS
MS4A4A	51338	broad.mit.edu	37	11	60068526	60068526	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60068526G>C	uc001noz.2	+	4	393	c.383G>C	c.(382-384)GGC>GCC	p.G128A	MS4A4A_uc001npa.2_Missense_Mutation_p.G109A|MS4A4A_uc001npb.2_Missense_Mutation_p.G109A|MS4A4A_uc001npc.2_Missense_Mutation_p.G109A	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	128	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						ACTACAAAAGGCCTGGTGAGT	0.303													4	19	---	---	---	---	PASS
SNHG1	23642	broad.mit.edu	37	11	62620459	62620459	+	Intron	SNP	T	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62620459T>G	uc001nvp.2	-						SNHG1_uc001nvo.2_Intron|SNHG1_uc001nvq.2_Intron|SNHG1_uc001nvs.2_Intron|SNHG1_uc001nvr.2_Intron|SNHG1_uc001nvt.2_RNA|SNHG1_uc001nvu.2_Intron|SNORD22_uc001nvv.2_RNA					Homo sapiens cDNA FLJ38530 fis, clone HCHON2001039.												0						CTTTACAGGCTCTGGGACTAG	0.433													32	44	---	---	---	---	PASS
SLC22A6	9356	broad.mit.edu	37	11	62749475	62749475	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62749475C>A	uc001nwk.2	-	4	943	c.636G>T	c.(634-636)GAG>GAT	p.E212D	SLC22A6_uc001nwl.2_Missense_Mutation_p.E212D|SLC22A6_uc001nwj.2_Missense_Mutation_p.E212D|SLC22A6_uc001nwm.2_Missense_Mutation_p.E212D	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	212	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						TGGGCATCCACTCCACATCTG	0.597													4	8	---	---	---	---	PASS
PC	5091	broad.mit.edu	37	11	66617769	66617769	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66617769G>A	uc001ojn.1	-	17	2689	c.2640C>T	c.(2638-2640)AGC>AGT	p.S880S	PC_uc001ojo.1_Silent_p.S880S|PC_uc001ojp.1_Silent_p.S880S|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	880					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAAGCCCCATGCTGTGGGCCT	0.592													18	32	---	---	---	---	PASS
ANO1	55107	broad.mit.edu	37	11	70031811	70031811	+	Intron	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70031811G>A	uc001opj.2	+						ANO1_uc001opl.1_Intron|ANO1_uc010rqk.1_Intron|ANO1_uc010rql.1_Intron	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel						multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GGTGCGGTGGGTCCCTCTTTG	0.572													52	16	---	---	---	---	PASS
SESN3	143686	broad.mit.edu	37	11	94963997	94963997	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94963997C>T	uc001pfk.1	-	1	250	c.28G>A	c.(28-30)GCC>ACC	p.A10T	SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Missense_Mutation_p.A10T	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	10					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTGGCGGCGGCCGACGGGCTG	0.751													14	10	---	---	---	---	PASS
APOA5	116519	broad.mit.edu	37	11	116661392	116661392	+	Missense_Mutation	SNP	C	T	T	rs2075291	byFrequency	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116661392C>T	uc001ppr.2	-	3	561	c.553G>A	c.(553-555)GGC>AGC	p.G185S	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.G185S|APOA5_uc009yzf.2_Missense_Mutation_p.G185S|APOA5_uc009yzg.2_Missense_Mutation_p.G211S	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	185					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TTGAAGCGGCCGGTGTGGTGC	0.692													14	18	---	---	---	---	PASS
SIK3	23387	broad.mit.edu	37	11	116717266	116717266	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116717266C>A	uc001ppy.2	-	23	3674	c.3638G>T	c.(3637-3639)TGT>TTT	p.C1213F	SIK3_uc001ppz.2_Missense_Mutation_p.C1052F|SIK3_uc001pqa.2_Missense_Mutation_p.C1153F|SIK3_uc001ppw.2_Missense_Mutation_p.C570F|SIK3_uc001ppx.2_Missense_Mutation_p.C591F	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1213						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GCTTGCCCCACATTCTGCAAG	0.522													13	23	---	---	---	---	PASS
CBL	867	broad.mit.edu	37	11	119103223	119103223	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119103223G>A	uc001pwe.2	+	2	399	c.261G>A	c.(259-261)CTG>CTA	p.L87L		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	87	Cbl-PTB.|4H.				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)		TCTTAGACCTGCTACCAGATA	0.438									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				7	33	---	---	---	---	PASS
CBL	867	broad.mit.edu	37	11	119149393	119149393	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119149393C>A	uc001pwe.2	+	9	1539	c.1401C>A	c.(1399-1401)CTC>CTA	p.L467L		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	467	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	p.E366_K477del(1)		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)		ATGATACTCTCTTCATGATGA	0.463									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				3	39	---	---	---	---	PASS
OR4D5	219875	broad.mit.edu	37	11	123810823	123810823	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123810823C>A	uc001pzk.1	+	1	500	c.500C>A	c.(499-501)CCA>CAA	p.P167Q		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	167	Extracellular (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;0.0399)		ATCCAGCTGCCATTCTGTGGG	0.478													15	50	---	---	---	---	PASS
ST14	6768	broad.mit.edu	37	11	130079677	130079677	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130079677C>G	uc001qfw.2	+	19	2720	c.2527C>G	c.(2527-2529)CCT>GCT	p.P843A		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	843	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CACAAGGCTCCCTCTGTTTCG	0.637													20	23	---	---	---	---	PASS
OPCML	4978	broad.mit.edu	37	11	132812855	132812855	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132812855C>A	uc001qgs.2	-	1	183	c.133G>T	c.(133-135)GTG>TTG	p.V45L	OPCML_uc001qgu.2_Missense_Mutation_p.V38L|OPCML_uc010sck.1_Missense_Mutation_p.V45L|OPCML_uc001qgt.2_Missense_Mutation_p.V45L|OPCML_uc010scl.1_Missense_Mutation_p.V4L	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	45	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGGACCGTCACGTTGTCCATA	0.662													12	49	---	---	---	---	PASS
ITFG2	55846	broad.mit.edu	37	12	2933282	2933282	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2933282G>T	uc001qlb.1	+	12	1331	c.1267G>T	c.(1267-1269)GCC>TCC	p.A423S	ITFG2_uc010seb.1_Missense_Mutation_p.A246S|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	423											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTGACTCGTGCCCTGCTTCA	0.602													62	76	---	---	---	---	PASS
AKAP3	10566	broad.mit.edu	37	12	4736244	4736244	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4736244C>A	uc001qnb.3	-	4	2053	c.1824G>T	c.(1822-1824)AAG>AAT	p.K608N		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	608					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						TCTGGTCACGCTTGAAAATGG	0.478													11	156	---	---	---	---	PASS
ANO2	57101	broad.mit.edu	37	12	5708742	5708742	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5708742G>C	uc001qnm.2	-	21	2213	c.2141C>G	c.(2140-2142)ACT>AGT	p.T714S		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	719	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						GGCAGAGTCAGTTTCTCCAGC	0.453													29	147	---	---	---	---	PASS
VWF	7450	broad.mit.edu	37	12	6085427	6085427	+	Splice_Site	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6085427C>T	uc001qnn.1	-	43	7538	c.7288_splice	c.e43-1	p.V2430_splice	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GGACACACACCTGTAGACATA	0.378													44	63	---	---	---	---	PASS
A2ML1	144568	broad.mit.edu	37	12	9016433	9016433	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9016433C>A	uc001quz.3	+	29	3644	c.3546C>A	c.(3544-3546)AAC>AAA	p.N1182K	A2ML1_uc001qva.1_Missense_Mutation_p.N762K|A2ML1_uc010sgm.1_Missense_Mutation_p.N682K	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	1026						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						CATCATCGAACGCCAGCCCTT	0.483													51	75	---	---	---	---	PASS
MANSC1	54682	broad.mit.edu	37	12	12483101	12483101	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12483101G>C	uc001rai.1	-	4	1414	c.1156C>G	c.(1156-1158)CTT>GTT	p.L386V	MANSC1_uc010shm.1_Missense_Mutation_p.L320V|MANSC1_uc001raj.1_Missense_Mutation_p.L352V|MANSC1_uc009zht.1_Missense_Mutation_p.L305V	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	386	Helical; (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GACCCGATAAGAAGCCATTTT	0.527													41	63	---	---	---	---	PASS
GRIN2B	2904	broad.mit.edu	37	12	13768106	13768106	+	Silent	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13768106T>A	uc001rbt.2	-	7	1775	c.1596A>T	c.(1594-1596)ACA>ACT	p.T532T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	532	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACTGATGCCTGTCTCTATGA	0.512													73	94	---	---	---	---	PASS
RERGL	79785	broad.mit.edu	37	12	18234228	18234228	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:18234228A>G	uc001rdq.2	-	6	709	c.515T>C	c.(514-516)ATC>ACC	p.I172T	RERGL_uc001rdr.2_Missense_Mutation_p.I171T	NM_024730	NP_079006	Q9H628	RERGL_HUMAN	RERG/RAS-like	172	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity				0						GTTTATCAGGATGTCCTTGAT	0.398													44	80	---	---	---	---	PASS
RERGL	79785	broad.mit.edu	37	12	18241849	18241849	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:18241849A>T	uc001rdq.2	-	3	291	c.97T>A	c.(97-99)TAT>AAT	p.Y33N	RERGL_uc001rdr.2_Missense_Mutation_p.Y32N	NM_024730	NP_079006	Q9H628	RERGL_HUMAN	RERG/RAS-like	33	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity				0						TTAGAAGCATATTCTCCAATG	0.328													50	87	---	---	---	---	PASS
SLCO1B3	28234	broad.mit.edu	37	12	21243002	21243002	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21243002G>A	uc010sil.1	+	16	2274	c.2209G>A	c.(2209-2211)GAC>AAC	p.D737N	LST-3TM12_uc010sim.1_Missense_Mutation_p.D676N|LST-3TM12_uc010sin.1_Missense_Mutation_p.D629N			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					ATTCTTAAACGACAGTGAACA	0.303													9	23	---	---	---	---	PASS
SLCO1B1	10599	broad.mit.edu	37	12	21349910	21349910	+	Missense_Mutation	SNP	G	C	C	rs11045853	byFrequency	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21349910G>C	uc001req.3	+	8	862	c.758G>C	c.(757-759)CGA>CCA	p.R253P		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	253	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTGATTCTCGATGGGTTGGA	0.363													81	120	---	---	---	---	PASS
KLHDC5	57542	broad.mit.edu	37	12	27950953	27950953	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27950953G>T	uc001rij.2	+	3	1449	c.1372G>T	c.(1372-1374)GTC>TTC	p.V458F	KLHDC5_uc009zjj.2_RNA	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	kelch domain containing 5	458	Kelch 6.									ovary(1)|central_nervous_system(1)	2	Lung SC(9;0.0873)					GAGCAGAGACGTCACCCTGTC	0.498													52	68	---	---	---	---	PASS
ADAMTS20	80070	broad.mit.edu	37	12	43822445	43822445	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43822445C>A	uc010skx.1	-	25	3647	c.3647G>T	c.(3646-3648)TGG>TTG	p.W1216L	ADAMTS20_uc001rno.1_Missense_Mutation_p.W334L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.W370L	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1216	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TACGGGTGACCAATCCCCTGC	0.333													3	12	---	---	---	---	PASS
ADAMTS20	80070	broad.mit.edu	37	12	43860456	43860456	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43860456C>A	uc010skx.1	-	9	1366	c.1366G>T	c.(1366-1368)GAT>TAT	p.D456Y		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	456	Peptidase M12B.			D -> E (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTACTTACTCTAGGAATTCA	0.308													7	31	---	---	---	---	PASS
ENDOU	8909	broad.mit.edu	37	12	48107147	48107147	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48107147A>G	uc001rpu.1	-	7	930	c.776T>C	c.(775-777)TTT>TCT	p.F259S	ENDOU_uc010sll.1_Missense_Mutation_p.F25S|ENDOU_uc001rpt.1_Missense_Mutation_p.F218S|ENDOU_uc010slm.1_Missense_Mutation_p.F196S	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	259					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3						GTCATCGACAAACTCTTGCTC	0.522													27	86	---	---	---	---	PASS
GRASP	160622	broad.mit.edu	37	12	52408988	52408988	+	3'UTR	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52408988G>T	uc001rzo.1	+	8					GRASP_uc001rzp.1_3'UTR	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides							cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGTAGGGGCGGGGGCGGGCA	0.627													3	15	---	---	---	---	PASS
GRASP	160622	broad.mit.edu	37	12	52408989	52408989	+	3'UTR	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52408989G>T	uc001rzo.1	+	8					GRASP_uc001rzp.1_3'UTR	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides							cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TGTAGGGGCGGGGGCGGGCAG	0.627													3	15	---	---	---	---	PASS
KRT85	3891	broad.mit.edu	37	12	52757201	52757201	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52757201G>T	uc001sag.2	-							NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85						epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCTGTGGGGCCAACAGCC	0.572													10	19	---	---	---	---	PASS
KRT75	9119	broad.mit.edu	37	12	52822536	52822536	+	Intron	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52822536A>G	uc001saj.2	-							NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75							keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		TACTGAGAGAACCAGAGCAAA	0.552													19	27	---	---	---	---	PASS
KRT2	3849	broad.mit.edu	37	12	53040512	53040512	+	Intron	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53040512C>A	uc001sat.2	-							NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2						keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCTCCCTTCCCAGTGCCCTCA	0.617													10	40	---	---	---	---	PASS
AAAS	8086	broad.mit.edu	37	12	53715117	53715117	+	Intron	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53715117C>A	uc001scr.3	-						AAAS_uc001scs.3_Intron	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,						carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						TCCCTCCTCGCCCTGGCCACC	0.657													24	81	---	---	---	---	PASS
AMHR2	269	broad.mit.edu	37	12	53823386	53823386	+	Nonsense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53823386C>T	uc001scx.1	+	8	1195	c.1117C>T	c.(1117-1119)CAA>TAA	p.Q373*	AMHR2_uc009zmy.1_Nonsense_Mutation_p.Q373*	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	373	Cytoplasmic (Potential).|Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	TACTCAACCACAAGGCCCAGC	0.577									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				4	18	---	---	---	---	PASS
NCKAP1L	3071	broad.mit.edu	37	12	54920461	54920461	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54920461C>T	uc001sgc.3	+	21	2385	c.2306C>T	c.(2305-2307)GCC>GTC	p.A769V	NCKAP1L_uc010sox.1_Missense_Mutation_p.A311V|NCKAP1L_uc010soy.1_Missense_Mutation_p.A719V	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	769				NA -> KP (in Ref. 1; AAA35964).	actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						ATCCGCAACGCCCTCCTGCAG	0.517													6	28	---	---	---	---	PASS
LRP1	4035	broad.mit.edu	37	12	57587745	57587745	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57587745G>T	uc001snd.2	+	48	8334	c.7868G>T	c.(7867-7869)CGC>CTC	p.R2623L	MIR1228_hsa-mir-1228|MI0006318_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2623	LDL-receptor class A 13.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACTCCAGCCGCTGCAACCAG	0.622													4	31	---	---	---	---	PASS
MON2	23041	broad.mit.edu	37	12	62946856	62946856	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62946856C>A	uc001sre.2	+	24	3503	c.3112C>A	c.(3112-3114)CCT>ACT	p.P1038T	MON2_uc009zqj.2_Missense_Mutation_p.P1038T|MON2_uc010ssl.1_Missense_Mutation_p.P966T|MON2_uc010ssm.1_Missense_Mutation_p.P1015T|MON2_uc010ssn.1_Missense_Mutation_p.P1038T|MON2_uc001srf.2_Missense_Mutation_p.P801T	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1039					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGATCCCCGTCCTGCTGTCAG	0.458													20	102	---	---	---	---	PASS
ZFC3H1	196441	broad.mit.edu	37	12	72056843	72056843	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72056843C>A	uc001swo.2	-	1	907	c.548G>T	c.(547-549)GGG>GTG	p.G183V	ZFC3H1_uc010sts.1_Missense_Mutation_p.G183V|ZFC3H1_uc001swp.2_Missense_Mutation_p.G183V|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	183					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GCTGCTGAACCCGGATCCTGC	0.642													67	91	---	---	---	---	PASS
NAP1L1	4673	broad.mit.edu	37	12	76461258	76461258	+	Intron	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76461258A>T	uc001sxw.2	-						NAP1L1_uc001sxv.2_Intron|NAP1L1_uc001sxz.2_Intron|NAP1L1_uc001sxx.2_Intron|NAP1L1_uc001sxy.2_Intron|NAP1L1_uc010sty.1_Intron|NAP1L1_uc010stz.1_Intron|NAP1L1_uc010sua.1_Intron|NAP1L1_uc001syb.2_Intron|NAP1L1_uc001sya.2_Intron|NAP1L1_uc001syc.2_Intron	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1						DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				GACGTGCTTTAAAAAAAAAAG	0.363													30	30	---	---	---	---	PASS
SYT1	6857	broad.mit.edu	37	12	79611379	79611379	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:79611379C>G	uc001sys.2	+	5	751	c.80C>G	c.(79-81)ACA>AGA	p.T27R	SYT1_uc001syt.2_Missense_Mutation_p.T27R|SYT1_uc001syu.2_Missense_Mutation_p.T27R|SYT1_uc001syv.2_Missense_Mutation_p.T27R	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	27	Vesicular (Potential).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						AGCAACGCCACAGAGCCAGCC	0.493													7	30	---	---	---	---	PASS
MYF6	4618	broad.mit.edu	37	12	81101699	81101699	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81101699C>A	uc001szf.1	+	1	254	c.201C>A	c.(199-201)GGC>GGA	p.G67G		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	67					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CGCCCCCGGGCCTGCAGCCTC	0.652													12	33	---	---	---	---	PASS
C12orf50	160419	broad.mit.edu	37	12	88376963	88376963	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88376963G>A	uc001tam.1	-	12	1304	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	379										skin(2)|ovary(1)	3						TGATGTTGACGTATATTTGTC	0.294													28	44	---	---	---	---	PASS
C12orf12	196477	broad.mit.edu	37	12	91347960	91347960	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:91347960G>T	uc001tbj.2	-	1	994	c.560C>A	c.(559-561)CCC>CAC	p.P187H		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	187										central_nervous_system(1)|pancreas(1)	2						GGTGGTGTTGGGCGGCGCTCG	0.657													16	67	---	---	---	---	PASS
GLT8D2	83468	broad.mit.edu	37	12	104390537	104390537	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104390537G>A	uc001tkh.1	-	8	982	c.576C>T	c.(574-576)GAC>GAT	p.D192D	GLT8D2_uc001tki.1_Silent_p.D192D	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	192	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						GTCTGTTTATGTCCTGAGCAG	0.522													13	57	---	---	---	---	PASS
ATP2A2	488	broad.mit.edu	37	12	110780213	110780213	+	Missense_Mutation	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110780213A>C	uc001tqk.3	+	15	2841	c.2278A>C	c.(2278-2280)ATC>CTC	p.I760L	ATP2A2_uc001tql.3_Missense_Mutation_p.I760L|ATP2A2_uc010sxy.1_Missense_Mutation_p.I733L	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	760	Helical; Name=5; (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						GAAACAGTTCATCCGCTACCT	0.522													3	24	---	---	---	---	PASS
ATP2A2	488	broad.mit.edu	37	12	110780229	110780229	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110780229C>T	uc001tqk.3	+	15	2857	c.2294C>T	c.(2293-2295)TCG>TTG	p.S765L	ATP2A2_uc001tql.3_Missense_Mutation_p.S765L|ATP2A2_uc010sxy.1_Missense_Mutation_p.S738L	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	765	Helical; Name=5; (By similarity).		S -> L (in DD).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						TACCTCATCTCGTCCAACGTC	0.522													3	16	---	---	---	---	PASS
OAS2	4939	broad.mit.edu	37	12	113444232	113444232	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113444232G>A	uc001tuj.2	+	8	1623	c.1483G>A	c.(1483-1485)GGC>AGC	p.G495S	OAS2_uc001tui.1_Missense_Mutation_p.G495S	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	495	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						GCTGAGTTCTGGCTCCACACC	0.448													22	32	---	---	---	---	PASS
TMEM132B	114795	broad.mit.edu	37	12	126138840	126138840	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:126138840C>T	uc001uhe.1	+	9	2829	c.2821C>T	c.(2821-2823)CAT>TAT	p.H941Y	TMEM132B_uc001uhf.1_Missense_Mutation_p.H453Y	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	941	Cytoplasmic (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAACATCCCCCATTCCCACGA	0.502													12	42	---	---	---	---	PASS
TPTE2	93492	broad.mit.edu	37	13	20038618	20038618	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20038618G>C	uc001umd.2	-	11	930	c.719C>G	c.(718-720)TCT>TGT	p.S240C	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.S129C|TPTE2_uc001ume.2_Missense_Mutation_p.S163C|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	240	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCTATAGAAAGACTGCCTTCC	0.313													27	26	---	---	---	---	PASS
FRY	10129	broad.mit.edu	37	13	32729647	32729647	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32729647G>A	uc001utx.2	+	15	1995	c.1499G>A	c.(1498-1500)CGG>CAG	p.R500Q	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTGGTTTACGGGCATTCTTG	0.423													21	13	---	---	---	---	PASS
MLNR	2862	broad.mit.edu	37	13	49794875	49794875	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49794875C>A	uc010tgj.1	+	1	402	c.402C>A	c.(400-402)GTC>GTA	p.V134V		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	134	Helical; Name=3; (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGCTCAGCGTCGAGCGCTACC	0.746													7	3	---	---	---	---	PASS
MLNR	2862	broad.mit.edu	37	13	49794876	49794876	+	Nonsense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49794876G>T	uc010tgj.1	+	1	403	c.403G>T	c.(403-405)GAG>TAG	p.E135*		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	135	Cytoplasmic (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCTCAGCGTCGAGCGCTACCT	0.741													7	3	---	---	---	---	PASS
INTS6	26512	broad.mit.edu	37	13	51963478	51963478	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:51963478C>A	uc001vfk.2	-	6	1330	c.716G>T	c.(715-717)GGA>GTA	p.G239V	INTS6_uc001vfj.2_Missense_Mutation_p.G226V|INTS6_uc001vfl.2_Missense_Mutation_p.G61V	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	239					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGGATCTGGTCCTGCTTTTTC	0.373													49	46	---	---	---	---	PASS
NEK5	341676	broad.mit.edu	37	13	52693542	52693542	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52693542G>T	uc001vge.2	-	4	267	c.127C>A	c.(127-129)CAA>AAA	p.Q43K	NEK5_uc001vgf.2_Missense_Mutation_p.Q43K	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	43	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCTTTTTCTTGTATGGGCATC	0.333													14	11	---	---	---	---	PASS
NALCN	259232	broad.mit.edu	37	13	101936327	101936327	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101936327A>T	uc001vox.1	-	10	1280	c.1091T>A	c.(1090-1092)GTG>GAG	p.V364E	NALCN_uc001voy.2_Missense_Mutation_p.V79E|NALCN_uc001voz.2_Missense_Mutation_p.V364E|NALCN_uc001vpa.2_Missense_Mutation_p.V364E	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	364	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTGACATCCACAGCTACCAG	0.458													26	7	---	---	---	---	PASS
MYO16	23026	broad.mit.edu	37	13	109496795	109496795	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109496795G>T	uc001vqt.1	+	10	1262	c.1136G>T	c.(1135-1137)AGC>ATC	p.S379I	MYO16_uc010agk.1_Missense_Mutation_p.S401I|MYO16_uc001vqu.1_Missense_Mutation_p.S179I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	379					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTCAGGACAGCATCCCTGAA	0.438													30	11	---	---	---	---	PASS
OR4K15	81127	broad.mit.edu	37	14	20444238	20444238	+	Silent	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20444238T>C	uc010tkx.1	+	1	561	c.561T>C	c.(559-561)ACT>ACC	p.T187T		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCATTCACTGTTAATCTGC	0.448													101	45	---	---	---	---	PASS
HECTD1	25831	broad.mit.edu	37	14	31570382	31570382	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31570382G>T	uc001wrc.1	-						HECTD1_uc001wra.1_Intron|HECTD1_uc001wrb.1_Intron	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGAGAGCTTGTACCTTGCGT	0.423													6	34	---	---	---	---	PASS
MDGA2	161357	broad.mit.edu	37	14	47504487	47504487	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47504487G>T	uc001wwj.3	-	8	1535	c.1339C>A	c.(1339-1341)CCA>ACA	p.P447T	MDGA2_uc001wwi.3_Missense_Mutation_p.P218T|MDGA2_uc010ani.2_Intron	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	447	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TTTTCCTGTGGAACAGTCAGA	0.373													22	67	---	---	---	---	PASS
TRIM9	114088	broad.mit.edu	37	14	51446186	51446186	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51446186G>T	uc001wyx.3	-	9	2754	c.1989C>A	c.(1987-1989)AAC>AAA	p.N663K	TRIM9_uc001wyy.2_Missense_Mutation_p.N744K	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	663	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GTTGTTCATCGTTGATAAAAA	0.473													61	110	---	---	---	---	PASS
PPM1A	5494	broad.mit.edu	37	14	60749954	60749954	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60749954C>T	uc010apn.2	+	3	935	c.533C>T	c.(532-534)GCA>GTA	p.A178V	PPM1A_uc001xew.3_Missense_Mutation_p.A251V|PPM1A_uc001xex.3_Missense_Mutation_p.A178V|PPM1A_uc001xey.3_Missense_Mutation_p.A178V	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	178					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ATTCAGAATGCAGGTGGCTCT	0.443													37	27	---	---	---	---	PASS
SIX1	6495	broad.mit.edu	37	14	61115638	61115638	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61115638C>T	uc001xfb.3	-	1	518	c.270G>A	c.(268-270)GCG>GCA	p.A90A		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	90					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCACGTAATGCGCCTTCAGCC	0.627													4	113	---	---	---	---	PASS
PCNX	22990	broad.mit.edu	37	14	71455316	71455316	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71455316C>T	uc001xmo.2	+	7	2790	c.2344C>T	c.(2344-2346)CGC>TGC	p.R782C	PCNX_uc001xmn.3_Missense_Mutation_p.R782C|PCNX_uc010are.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	782						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTGTCATTTCGCCGTGAACG	0.557													39	50	---	---	---	---	PASS
DPF3	8110	broad.mit.edu	37	14	73238547	73238547	+	Silent	SNP	T	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73238547T>G	uc001xnc.2	-	2	100	c.87A>C	c.(85-87)TCA>TCC	p.S29S	DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Silent_p.S29S|DPF3_uc010ttq.1_Silent_p.S39S	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	29					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CACACAGCCGTGAGTTGTAAC	0.582													13	24	---	---	---	---	PASS
YLPM1	56252	broad.mit.edu	37	14	75302033	75302033	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75302033C>T	uc001xqj.3	+	20	6484	c.6360C>T	c.(6358-6360)GTC>GTT	p.V2120V	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTTTTGTGGTCGGACAGACTG	0.438													14	39	---	---	---	---	PASS
NRXN3	9369	broad.mit.edu	37	14	79432646	79432646	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79432646T>A	uc001xun.2	+	9	2046	c.1555T>A	c.(1555-1557)TCC>ACC	p.S519T	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S644T	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	892	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGCTTACACCTCCATGCACCT	0.498													4	72	---	---	---	---	PASS
NRXN3	9369	broad.mit.edu	37	14	79434533	79434533	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79434533G>T	uc001xun.2	+	11	2358	c.1867G>T	c.(1867-1869)GGT>TGT	p.G623C	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G748C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	996	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATATGGCTGGTCTGGCCCA	0.473													21	26	---	---	---	---	PASS
NRXN3	9369	broad.mit.edu	37	14	79454494	79454494	+	Intron	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79454494A>G	uc001xun.2	+						NRXN3_uc001xum.1_Intron|NRXN3_uc010asv.1_Missense_Mutation_p.N843S	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGTAAGTACAACAACCTTTCA	0.408													6	80	---	---	---	---	PASS
GALC	2581	broad.mit.edu	37	14	88454828	88454828	+	Missense_Mutation	SNP	G	A	A	rs73312829	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88454828G>A	uc001xvt.2	-	2	634	c.235C>T	c.(235-237)CGT>TGT	p.R79C	GALC_uc010tvx.1_Missense_Mutation_p.R53C|GALC_uc010tvy.1_Intron|GALC_uc010tvz.1_Missense_Mutation_p.R23C|GALC_uc001xvu.1_Missense_Mutation_p.R79C	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	79			R -> H (in GLD).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						ATCTGAGAACGATAGGGCTCT	0.318													23	44	---	---	---	---	PASS
SPATA7	55812	broad.mit.edu	37	14	88892720	88892720	+	Nonsense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88892720G>T	uc001xwq.2	+	6	668	c.517G>T	c.(517-519)GAG>TAG	p.E173*	SPATA7_uc001xwr.2_Nonsense_Mutation_p.E141*|SPATA7_uc001xws.2_Nonsense_Mutation_p.E109*|SPATA7_uc001xwt.2_Nonsense_Mutation_p.E67*|SPATA7_uc001xwu.2_5'Flank	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	173					response to stimulus|visual perception					ovary(1)	1						AAATGGTCCTGAGAAGAACTC	0.498													13	53	---	---	---	---	PASS
RPS6KA5	9252	broad.mit.edu	37	14	91386632	91386632	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91386632C>A	uc001xys.2	-	7	939	c.724G>T	c.(724-726)GGT>TGT	p.G242C	RPS6KA5_uc010twi.1_Missense_Mutation_p.G163C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.G242C|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	242	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATTAGAACACCCAAACTCCAC	0.289													16	78	---	---	---	---	PASS
UBR7	55148	broad.mit.edu	37	14	93677055	93677055	+	Splice_Site	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93677055G>C	uc001ybm.3	+	3	581	c.345_splice	c.e3+1	p.P115_splice	UBR7_uc001ybn.3_Splice_Site_p.P39_splice|UBR7_uc010auq.2_Splice_Site	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin								ubiquitin-protein ligase activity|zinc ion binding				0						ATTACTTCCTGTAAGTAAGCA	0.294													7	5	---	---	---	---	PASS
SERPINA12	145264	broad.mit.edu	37	14	94953751	94953751	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94953751C>T	uc001ydj.2	-	6	1930	c.1134G>A	c.(1132-1134)ATG>ATA	p.M378I		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	378					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		GTGGTGTCTCCATGGGCAGAG	0.537													41	49	---	---	---	---	PASS
CCNK	8812	broad.mit.edu	37	14	99961950	99961950	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99961950T>A	uc001ygi.3	+	4	525	c.395T>A	c.(394-396)TTT>TAT	p.F132Y	CCNK_uc001ygg.3_Missense_Mutation_p.F132Y	NM_001099402	NP_001092872	O75909	CCNK_HUMAN	cyclin K isoform 1	132					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding				0		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				TTTGGCCAGTTTGGAGATGAC	0.378													24	142	---	---	---	---	PASS
SNORD114-6	767582	broad.mit.edu	37	14	101423527	101423527	+	RNA	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101423527C>T	uc001yiw.2	+	1		c.25C>T				NR_003198				Homo sapiens small nucleolar RNA, C/D box 114-6 (SNORD114-6), non-coding RNA.												0						CCACTGGTGGCGTATAAATCA	0.318													3	25	---	---	---	---	PASS
MIR541	100126308	broad.mit.edu	37	14	101530870	101530870	+	RNA	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101530870A>T	hsa-mir-541|MI0005539	+			c.39A>T			MIR409_hsa-mir-409|MI0001735_5'Flank|MIR412_hsa-mir-412|MI0002464_5'Flank|uc010txp.1_5'Flank|MIR369_hsa-mir-369|MI0000777_5'Flank|MIR410_hsa-mir-410|MI0002465_5'Flank|MIR656_hsa-mir-656|MI0003678_5'Flank																	0						CCCACTCCAAAGTTCACAGAA	0.592													4	24	---	---	---	---	PASS
ADAM6	8755	broad.mit.edu	37	14	106757888	106757888	+	RNA	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106757888G>T	uc010tyt.1	-	472		c.16177C>A								Parts of antibodies, mostly variable regions.												0						GACGGTGCAGGTCAGCGTGAG	0.557													21	14	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	15	20651270	20651270	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:20651270T>C	uc001ytg.2	-	17	2387	c.1678A>G	c.(1678-1680)ATG>GTG	p.M560V	uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.M560V|uc010tyy.1_Missense_Mutation_p.M560V					RecName: Full=Putative HERC2-like protein 3;																		GAAGCATTCATATCTTCCTCA	0.493													21	92	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	15	20658901	20658901	+	Nonsense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:20658901T>A	uc001ytg.2	-	14	1985	c.1276A>T	c.(1276-1278)AGA>TGA	p.R426*	uc010tyx.1_Intron|uc001yth.3_Nonsense_Mutation_p.R426*|uc010tyy.1_Nonsense_Mutation_p.R426*|uc010tyz.1_Nonsense_Mutation_p.R274*					RecName: Full=Putative HERC2-like protein 3;																		GGAATAAGTCTTTGCCATCCA	0.368													21	98	---	---	---	---	PASS
MAGEL2	54551	broad.mit.edu	37	15	23890379	23890379	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23890379G>A	uc001ywj.3	-	1	797	c.702C>T	c.(700-702)GTC>GTT	p.V234V		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGCTGTGGGACCCATGGAA	0.587													21	47	---	---	---	---	PASS
C15orf2	23742	broad.mit.edu	37	15	24921562	24921562	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:24921562G>T	uc001ywo.2	+	1	1022	c.548G>T	c.(547-549)GGA>GTA	p.G183V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	183					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTTAGCAGCGGAGAAGCATCG	0.597													5	14	---	---	---	---	PASS
SNORD116-4	100033416	broad.mit.edu	37	15	25315636	25315636	+	Intron	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25315636G>A	uc001yxh.1	+						SNORD116-4_uc001yxm.1_Intron|IPW_uc001yxn.3_Intron|SNORD116-8_uc001yxr.2_RNA|SNORD116-3_uc001yxs.2_5'Flank					Homo sapiens clone kid4 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0						CAAAATGAGTGAGAACTCATA	0.483													29	70	---	---	---	---	PASS
OCA2	4948	broad.mit.edu	37	15	28096622	28096622	+	Splice_Site	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28096622C>A	uc001zbh.3	-	22	2355	c.2245_splice	c.e22-1	p.I749_splice	OCA2_uc010ayv.2_Splice_Site_p.I725_splice	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II						eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCACGGGAATCTGTGGAGGAA	0.557									Oculocutaneous_Albinism				4	11	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	33872198	33872198	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33872198C>A	uc001zhi.2	+	13	1360	c.1290C>A	c.(1288-1290)GCC>GCA	p.A430A	RYR3_uc010bar.2_Silent_p.A430A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	430	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCACAGCTGCCCCCATCACCC	0.552													8	5	---	---	---	---	PASS
TGM7	116179	broad.mit.edu	37	15	43571926	43571926	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43571926G>A	uc001zrf.1	-	10	1580	c.1575C>T	c.(1573-1575)ATC>ATT	p.I525I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	525					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCACCAGTCCGATGGGCCCCC	0.647													19	25	---	---	---	---	PASS
TRPM7	54822	broad.mit.edu	37	15	50897096	50897096	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50897096C>A	uc001zyt.3	-	21	3219	c.2955G>T	c.(2953-2955)CAG>CAT	p.Q985H	TRPM7_uc010bew.1_Missense_Mutation_p.Q985H|TRPM7_uc001zyu.2_Missense_Mutation_p.Q543H	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	985	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGGTCCTGCCTGTTGATTTA	0.299													9	9	---	---	---	---	PASS
UNC13C	440279	broad.mit.edu	37	15	54305590	54305590	+	Nonsense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54305590G>T	uc002ack.2	+	1	490	c.490G>T	c.(490-492)GAG>TAG	p.E164*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	164					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCACCCTCTGAGGGCAGCTC	0.453													17	25	---	---	---	---	PASS
MEGF11	84465	broad.mit.edu	37	15	66223228	66223228	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66223228C>A	uc002apm.2	-	11	1482	c.1341G>T	c.(1339-1341)TCG>TCT	p.S447S	MEGF11_uc002apl.2_Silent_p.S372S|MEGF11_uc002apn.1_Silent_p.S447S	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	447	EGF-like 8.					basolateral plasma membrane|integral to membrane				pancreas(1)	1						TACAGATGGACGAGCAGTTGG	0.557													17	28	---	---	---	---	PASS
NEO1	4756	broad.mit.edu	37	15	73408948	73408948	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73408948A>T	uc002avm.3	+	2	340	c.198A>T	c.(196-198)AGA>AGT	p.R66S	NEO1_uc010ukx.1_Missense_Mutation_p.R66S|NEO1_uc010uky.1_Missense_Mutation_p.R66S|NEO1_uc010ukz.1_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	66	Extracellular (Potential).|Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TCTCAGTTAGAGGCTCTTCTG	0.358													39	88	---	---	---	---	PASS
NEO1	4756	broad.mit.edu	37	15	73414925	73414925	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73414925A>G	uc002avm.3	+	3	650	c.508A>G	c.(508-510)ATT>GTT	p.I170V	NEO1_uc010ukx.1_Missense_Mutation_p.I170V|NEO1_uc010uky.1_Missense_Mutation_p.I170V|NEO1_uc010ukz.1_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	170	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						GAACAATGCAATTCTGAATTG	0.383													5	79	---	---	---	---	PASS
GOLGA6A	342096	broad.mit.edu	37	15	74364586	74364586	+	Silent	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74364586T>C	uc002axa.1	-	14	1607	c.1566A>G	c.(1564-1566)CCA>CCG	p.P522P	uc010ulg.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	522	Potential.										0						CCAGGTCCTCTGGGATGTTTG	0.637													4	113	---	---	---	---	PASS
FAM154B	283726	broad.mit.edu	37	15	82575389	82575389	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82575389G>T	uc002bgv.2	+	3	1252	c.1183G>T	c.(1183-1185)GTG>TTG	p.V395L	FAM154B_uc010unr.1_Missense_Mutation_p.V380L|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	395										skin(2)	2						TATTCCTGCAGTGAAGGCCTT	0.348													20	30	---	---	---	---	PASS
LRRC28	123355	broad.mit.edu	37	15	99796311	99796311	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99796311G>T	uc002bva.1	+	2	304	c.149G>T	c.(148-150)AGG>ATG	p.R50M	LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Translation_Start_Site|LRRC28_uc010urt.1_Translation_Start_Site|LRRC28_uc002bvc.1_Missense_Mutation_p.R50M|LRRC28_uc010uru.1_Missense_Mutation_p.R50M|LRRC28_uc002bvd.1_Missense_Mutation_p.R50M	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	50	LRR 2.										0	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TATATGAAAAGGAACTCCCTG	0.348													20	32	---	---	---	---	PASS
OR4F6	390648	broad.mit.edu	37	15	102345983	102345983	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102345983C>T	uc010utr.1	+	1	61	c.61C>T	c.(61-63)CGG>TGG	p.R21W		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCTGACTCGCGGAAGATCCA	0.498													49	87	---	---	---	---	PASS
AQP8	343	broad.mit.edu	37	16	25232839	25232839	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:25232839G>C	uc002doc.2	+	3	404	c.322G>C	c.(322-324)GTG>CTG	p.V108L		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	108	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		CCTCAACCTGGTGATGCTCCT	0.627													31	31	---	---	---	---	PASS
GDPD3	79153	broad.mit.edu	37	16	30123732	30123732	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30123732G>A	uc002dwp.2	-	5	457	c.378C>T	c.(376-378)CAC>CAT	p.H126H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Silent_p.H64H|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	126	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						GGTCTGACCCGTGAGCAAAGT	0.607											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	21	---	---	---	---	PASS
ABCC12	94160	broad.mit.edu	37	16	48117870	48117870	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48117870G>T	uc002efc.1	-	28	4289	c.3943C>A	c.(3943-3945)CTC>ATC	p.L1315I	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1315	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				ACTGTGTTGAGGCGGTGGGCG	0.522													33	49	---	---	---	---	PASS
ABCC12	94160	broad.mit.edu	37	16	48117871	48117871	+	Silent	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48117871G>T	uc002efc.1	-	28	4288	c.3942C>A	c.(3940-3942)CGC>CGA	p.R1314R	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1314	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGTGTTGAGGCGGTGGGCGA	0.522													33	49	---	---	---	---	PASS
SALL1	6299	broad.mit.edu	37	16	51174581	51174581	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51174581C>T	uc010vgs.1	-	2	1583	c.1552G>A	c.(1552-1554)GAC>AAC	p.D518N	SALL1_uc010vgr.1_Missense_Mutation_p.D421N|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	518					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGATATTGTCCAAATGCTCA	0.517													26	53	---	---	---	---	PASS
CES1	1066	broad.mit.edu	37	16	55855365	55855365	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55855365T>C	uc002eim.2	-	5	713	c.605A>G	c.(604-606)CAG>CGG	p.Q202R	CES1_uc002eil.2_Missense_Mutation_p.Q203R|CES1_uc002ein.2_Missense_Mutation_p.Q202R	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	202					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AATGTTGTCCTGGACCCAGCG	0.582													16	18	---	---	---	---	PASS
SLC12A3	6559	broad.mit.edu	37	16	56936405	56936405	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56936405G>A	uc010ccm.2	+	24	2870	c.2841G>A	c.(2839-2841)ACG>ACA	p.T947T	SLC12A3_uc002ekd.3_Silent_p.T956T|SLC12A3_uc010ccn.2_Silent_p.T955T	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	947	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGGAGATTACGAAGAACAGAG	0.582													17	29	---	---	---	---	PASS
CCDC102A	92922	broad.mit.edu	37	16	57550347	57550347	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57550347C>T	uc002elw.2	-	7	1490	c.1277G>A	c.(1276-1278)GGC>GAC	p.G426D		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	426										ovary(1)	1						CTTCAGCTTGCCATGCACATG	0.627													11	12	---	---	---	---	PASS
CNOT1	23019	broad.mit.edu	37	16	58585531	58585531	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58585531T>A	uc002env.2	-	23	3456	c.3163A>T	c.(3163-3165)ACC>TCC	p.T1055S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.T1050S|CNOT1_uc002enx.2_Missense_Mutation_p.T1055S|CNOT1_uc002enz.1_Missense_Mutation_p.T484S|CNOT1_uc010vik.1_Missense_Mutation_p.T51S|SNORA46_uc002eny.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1055					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTGGCCTGGTGACCGTAACC	0.383													37	63	---	---	---	---	PASS
CDH8	1006	broad.mit.edu	37	16	61859083	61859083	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:61859083G>T	uc002eog.1	-	5	920	c.668C>A	c.(667-669)GCT>GAT	p.A223D	CDH8_uc002eoh.2_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	223	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTTATAATAGCTGAGGGGGA	0.438													14	30	---	---	---	---	PASS
EXOC3L	283849	broad.mit.edu	37	16	67221658	67221658	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67221658C>A	uc002erx.1	-	5	751	c.510G>T	c.(508-510)GAG>GAT	p.E170D	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.E114D|EXOC3L_uc010vje.1_Missense_Mutation_p.E109D	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	170	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CTCGCAGCTGCTCCAGCTCCC	0.597													20	32	---	---	---	---	PASS
PLEKHG4	25894	broad.mit.edu	37	16	67322470	67322470	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67322470G>C	uc002eso.3	+	20	6068	c.3533G>C	c.(3532-3534)GGG>GCG	p.G1178A	PLEKHG4_uc002esp.3_Missense_Mutation_p.G985A|PLEKHG4_uc002esq.3_Missense_Mutation_p.G1178A|PLEKHG4_uc010cef.2_Missense_Mutation_p.G1178A|PLEKHG4_uc002ess.3_Missense_Mutation_p.G1178A|PLEKHG4_uc010ceg.2_Missense_Mutation_p.G1097A	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1178					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGTGTGTCAGGGCAGGCCCTG	0.612													40	66	---	---	---	---	PASS
ADAMTS18	170692	broad.mit.edu	37	16	77331223	77331223	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77331223C>G	uc002ffc.3	-	18	3183	c.2764G>C	c.(2764-2766)GAG>CAG	p.E922Q	ADAMTS18_uc010chc.1_Missense_Mutation_p.E510Q|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E618Q	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	922					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						ATTTTGGGCTCAGTTACTGGC	0.398													43	53	---	---	---	---	PASS
SLC38A8	146167	broad.mit.edu	37	16	84050257	84050257	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84050257C>A	uc002fhg.1	-	8	1029	c.1029G>T	c.(1027-1029)GGG>GGT	p.G343G		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	343					amino acid transport|sodium ion transport	integral to membrane					0						GGACCCACAGCCCTGAGGGGT	0.647													3	47	---	---	---	---	PASS
KCNG4	93107	broad.mit.edu	37	16	84270958	84270958	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84270958C>T	uc010voc.1	-	2	255	c.134G>A	c.(133-135)CGG>CAG	p.R45Q	KCNG4_uc002fhu.1_Missense_Mutation_p.R45Q	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	45	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						ACCCACCTTCCGCACCCTCCG	0.627													17	30	---	---	---	---	PASS
FANCA	2175	broad.mit.edu	37	16	89816153	89816153	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89816153A>G	uc002fou.1	-	32	3266	c.3224T>C	c.(3223-3225)CTG>CCG	p.L1075P	FANCA_uc010vpn.1_Missense_Mutation_p.L1075P|FANCA_uc010vpo.1_Missense_Mutation_p.L161P	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1075					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTACATTAGCAGCTCCCTCTG	0.577			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				5	15	---	---	---	---	PASS
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	A	A	rs121912654		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578461C>A	uc002gim.2	-	5	663	c.469G>T	c.(469-471)GTC>TTC	p.V157F	TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	157	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	19	---	---	---	---	PASS
RCVRN	5957	broad.mit.edu	37	17	9808247	9808247	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9808247T>C	uc002gme.1	-	1	438	c.251A>G	c.(250-252)AAG>AGG	p.K84R		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	84	EF-hand 2.|1; low affinity (By similarity).				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						GACGTACTCCTTGAAGTCCAG	0.607													23	9	---	---	---	---	PASS
MYH3	4621	broad.mit.edu	37	17	10555833	10555833	+	Silent	SNP	C	T	T	rs147410236	byFrequency	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10555833C>T	uc002gmq.1	-	3	329	c.252G>A	c.(250-252)AAG>AAA	p.K84K		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	84	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCCTGTCGAACTTGGGGGGGT	0.502													16	10	---	---	---	---	PASS
MYH3	4621	broad.mit.edu	37	17	10555834	10555834	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10555834T>A	uc002gmq.1	-	3	328	c.251A>T	c.(250-252)AAG>ATG	p.K84M		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	84	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCTGTCGAACTTGGGGGGGTT	0.502													17	10	---	---	---	---	PASS
ACCN1	40	broad.mit.edu	37	17	32483084	32483084	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32483084G>A	uc002hhu.2	-	1	742	c.468C>T	c.(466-468)TTC>TTT	p.F156F		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	156	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	CACGGTGCAGGAACTCCAGCA	0.577													42	30	---	---	---	---	PASS
ARSG	22901	broad.mit.edu	37	17	66303806	66303806	+	Missense_Mutation	SNP	A	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66303806A>C	uc002jhc.2	+	2	968	c.172A>C	c.(172-174)ACA>CCA	p.T58P	ARSG_uc002jhb.1_Intron	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	58					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGGGCAGAAACAAAGGACAC	0.488													9	26	---	---	---	---	PASS
TRIM65	201292	broad.mit.edu	37	17	73887267	73887267	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73887267G>T	uc002jpx.2	-	6	1183	c.1147C>A	c.(1147-1149)CAC>AAC	p.H383N		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	383	B30.2/SPRY.					intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGTAGTGGTGCCCGGCCTGG	0.672													7	42	---	---	---	---	PASS
CCDC137	339230	broad.mit.edu	37	17	79634874	79634874	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79634874A>G	uc002kbc.3	+	2	286	c.250A>G	c.(250-252)AAG>GAG	p.K84E	C17orf90_uc002kba.2_5'Flank|C17orf90_uc002kbb.2_5'Flank|CCDC137_uc002kbd.2_RNA	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	84								p.K84K(1)		central_nervous_system(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATCAGTAACAAGAAGAGGAA	0.502													8	11	---	---	---	---	PASS
ADCYAP1	116	broad.mit.edu	37	18	905402	905402	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:905402C>A	uc010dkg.2	+	2	134	c.15C>A	c.(13-15)AGC>AGA	p.S5R	ADCYAP1_uc010dkh.2_Missense_Mutation_p.S5R	NM_001099733	NP_001093203	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	5					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0						CCATGTGTAGCGGAGCGAGGC	0.622													22	60	---	---	---	---	PASS
DLGAP1	9229	broad.mit.edu	37	18	3534287	3534287	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3534287C>G	uc002kmf.2	-	7	2451	c.2384G>C	c.(2383-2385)TGG>TCG	p.W795S	DLGAP1_uc010wyz.1_Missense_Mutation_p.W795S|DLGAP1_uc002kme.1_Missense_Mutation_p.W493S|DLGAP1_uc010dkn.2_Missense_Mutation_p.W503S|DLGAP1_uc010wyw.1_Missense_Mutation_p.W501S|DLGAP1_uc010wyx.1_Missense_Mutation_p.W517S|DLGAP1_uc010wyy.1_Missense_Mutation_p.W479S|DLGAP1_uc002kmg.2_Missense_Mutation_p.W493S	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	795					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				CTTCAGGAACCAGTGGCCATC	0.587													14	29	---	---	---	---	PASS
DSG1	1828	broad.mit.edu	37	18	28923500	28923500	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28923500G>T	uc002kwp.2	+	12	1987	c.1775G>T	c.(1774-1776)GGA>GTA	p.G592V	DSG1_uc010xbp.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	592	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGTTCAGATGGAGCAATTCAT	0.488													35	35	---	---	---	---	PASS
TNFRSF11A	8792	broad.mit.edu	37	18	60021677	60021677	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60021677G>T	uc002lin.2	+	4	375	c.337G>T	c.(337-339)GCG>TCG	p.A113S	TNFRSF11A_uc010dpv.2_Missense_Mutation_p.A113S	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	113	Extracellular (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				CCGGCGCTGCGCGTGCACGGC	0.731									Paget_Disease_of_Bone				9	9	---	---	---	---	PASS
SERPINB4	6318	broad.mit.edu	37	18	61305235	61305235	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61305235G>A	uc002ljf.2	-	8	977	c.891C>T	c.(889-891)GAC>GAT	p.D297D	SERPINB4_uc002lje.2_Silent_p.D276D|SERPINB4_uc002ljg.2_Silent_p.D297D	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	297					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TTCTCAACGTGTCCTTGAGGT	0.448													4	47	---	---	---	---	PASS
CCDC102B	79839	broad.mit.edu	37	18	66564672	66564672	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66564672G>T	uc002lkk.2	+						CCDC102B_uc002lki.2_Intron|CCDC102B_uc002lkj.1_Intron	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCAGGTATGGGTGCTCCTTGG	0.408													5	96	---	---	---	---	PASS
SALL3	27164	broad.mit.edu	37	18	76753214	76753214	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:76753214A>T	uc002lmt.2	+	2	1223	c.1223A>T	c.(1222-1224)GAG>GTG	p.E408V	SALL3_uc010dra.2_Missense_Mutation_p.E15V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGGTGTTCGAGCCCAAAGCC	0.657													8	3	---	---	---	---	PASS
SPPL2B	56928	broad.mit.edu	37	19	2271828	2271828	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2271828G>T	uc010dsw.1	+						OAZ1_uc002lvl.2_RNA|OAZ1_uc002lvm.2_RNA			Q8TCT7	PSL1_HUMAN	SubName: Full=Putative uncharacterized protein ENSP00000371624;							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGACAAGACGAGGATTCTCA	0.577													6	5	---	---	---	---	PASS
TMPRSS9	360200	broad.mit.edu	37	19	2413858	2413858	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2413858C>A	uc010xgx.1	+	9	1313	c.1313C>A	c.(1312-1314)GCC>GAC	p.A438D	TMPRSS9_uc002lvv.1_Missense_Mutation_p.A472D	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	438	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCAAAGCCAGCATGCCT	0.672													18	14	---	---	---	---	PASS
ZNF555	148254	broad.mit.edu	37	19	2853168	2853168	+	Nonsense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2853168G>T	uc002lwo.2	+	4	1194	c.1105G>T	c.(1105-1107)GAA>TAA	p.E369*	ZNF555_uc002lwn.3_Nonsense_Mutation_p.E368*	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	369	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAACCCTACGAATGCAAACA	0.453													9	25	---	---	---	---	PASS
FBN3	84467	broad.mit.edu	37	19	8130877	8130877	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8130877C>G	uc002mjf.2	-	63	8377	c.8356G>C	c.(8356-8358)GGT>CGT	p.G2786R	FBN3_uc002mje.2_Missense_Mutation_p.G582R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2786						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGCTGGACACCCCAGGGTCCT	0.692													36	14	---	---	---	---	PASS
SMARCA4	6597	broad.mit.edu	37	19	11105646	11105646	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11105646G>C	uc002mqf.3	+	9	1846	c.1562G>C	c.(1561-1563)CGG>CCG	p.R521P	SMARCA4_uc010dxp.2_Missense_Mutation_p.R521P|SMARCA4_uc010dxo.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqg.1_Missense_Mutation_p.R521P|SMARCA4_uc010dxq.2_Missense_Mutation_p.R521P|SMARCA4_uc010dxr.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqj.3_Missense_Mutation_p.R521P|SMARCA4_uc010dxs.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqe.2_Missense_Mutation_p.R521P	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	521	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAGAACGAGCGGATCGAGAAG	0.567			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				6	1	---	---	---	---	PASS
DOCK6	57572	broad.mit.edu	37	19	11326504	11326504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11326504G>A	uc002mqs.3	-	31	4035	c.3994C>T	c.(3994-3996)CGA>TGA	p.R1332*	DOCK6_uc010xlq.1_Nonsense_Mutation_p.R671*	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1332					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ATTTCTTGTCGAGCTCCGATG	0.537													10	39	---	---	---	---	PASS
CNN1	1264	broad.mit.edu	37	19	11657765	11657765	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11657765T>A	uc002msc.1	+	4	535	c.371T>A	c.(370-372)CTC>CAC	p.L124H	CNN1_uc010xmb.1_Missense_Mutation_p.L74H|CNN1_uc010xmc.1_Missense_Mutation_p.L74H	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	124	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						CAGTCCACCCTCCTGGCTTTG	0.592													42	30	---	---	---	---	PASS
PKN1	5585	broad.mit.edu	37	19	14574959	14574959	+	Silent	SNP	G	T	T	rs2230538	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14574959G>T	uc002myp.2	+	12	1893	c.1725G>T	c.(1723-1725)TCG>TCT	p.S575S	PKN1_uc002myq.2_Silent_p.S581S	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	575					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						CCAGCCCATCGAGCCTGGTGA	0.532													19	16	---	---	---	---	PASS
ZNF333	84449	broad.mit.edu	37	19	14805852	14805852	+	Nonsense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14805852G>T	uc002mzn.2	+	3	168	c.34G>T	c.(34-36)GAG>TAG	p.E12*	ZNF333_uc010dzq.2_Nonsense_Mutation_p.E12*|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Nonsense_Mutation_p.E12*|ZNF333_uc002mzm.2_Nonsense_Mutation_p.E12*|ZNF333_uc010dzr.1_RNA	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	12	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TGTGGCCGTGGAGTTCATCCA	0.567													30	26	---	---	---	---	PASS
ZNF676	163223	broad.mit.edu	37	19	22364051	22364051	+	Silent	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22364051T>A	uc002nqs.1	-	3	786	c.468A>T	c.(466-468)CTA>CTT	p.L156L		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATGTTGAGATAGGTGTGAAA	0.318													36	33	---	---	---	---	PASS
TMEM147	10430	broad.mit.edu	37	19	36037499	36037499	+	Intron	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36037499C>T	uc002oaj.1	+						uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Intron|TMEM147_uc002oak.1_Intron	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147							endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGAGAGGGGCCAGGGAAGGGA	0.552													24	30	---	---	---	---	PASS
WDR62	284403	broad.mit.edu	37	19	36549728	36549728	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36549728G>T	uc002odc.2	+	2	315	c.224G>T	c.(223-225)GGC>GTC	p.G75V	WDR62_uc002odd.2_Missense_Mutation_p.G75V|WDR62_uc010eer.2_Missense_Mutation_p.G75V|WDR62_uc002odb.2_Missense_Mutation_p.G75V	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	75					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACAGCAGTGGCCTAACCTGT	0.542													4	15	---	---	---	---	PASS
DMRTC2	63946	broad.mit.edu	37	19	42351680	42351680	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42351680C>T	uc002ors.2	+	2	267	c.184C>T	c.(184-186)CTC>TTC	p.L62F	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.L62F	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	62	DM.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						GCGCCTCTGCCTCTTCCAGGC	0.607													30	61	---	---	---	---	PASS
PHLDB3	653583	broad.mit.edu	37	19	44008084	44008084	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44008084T>C	uc002own.3	-	2	446	c.187A>G	c.(187-189)AGC>GGC	p.S63G	PHLDB3_uc002owo.2_Missense_Mutation_p.S63G	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	63											0		Prostate(69;0.0153)				TCAGTGCTGCTGCCTTCTCCC	0.682													17	29	---	---	---	---	PASS
CKM	1158	broad.mit.edu	37	19	45822920	45822920	+	Nonsense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45822920C>A	uc002pbd.2	-	2	126	c.52G>T	c.(52-54)GAG>TAG	p.E18*		NM_001824	NP_001815	P06732	KCRM_HUMAN	muscle creatine kinase	18	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			skin(1)	1		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTACTCCTCCTCAGGCTTG	0.527													45	77	---	---	---	---	PASS
MED25	81857	broad.mit.edu	37	19	50333387	50333387	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50333387C>T	uc002ppw.1	+	7	784	c.731C>T	c.(730-732)CCA>CTA	p.P244L	MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_Missense_Mutation_p.P25L	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	244	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCAAAGCAGCCAGTCCCCCTG	0.647													47	61	---	---	---	---	PASS
SHANK1	50944	broad.mit.edu	37	19	51175289	51175289	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51175289C>T	uc002psx.1	-	21	2679	c.2660G>A	c.(2659-2661)CGG>CAG	p.R887Q	SHANK1_uc002psw.1_Missense_Mutation_p.R271Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	887					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGATTTTTGCCGGAGCATCAA	0.562													5	16	---	---	---	---	PASS
KLK15	55554	broad.mit.edu	37	19	51329080	51329080	+	Nonsense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51329080C>T	uc002ptl.2	-	5	774	c.743G>A	c.(742-744)TGG>TAG	p.W248*	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Nonsense_Mutation_p.W163*|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Nonsense_Mutation_p.W247*|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	248	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TTCCCTGATCCACTCCAAGTA	0.572													15	25	---	---	---	---	PASS
BRSK1	84446	broad.mit.edu	37	19	55805501	55805501	+	Missense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55805501G>C	uc002qkg.2	+	5	852	c.575G>C	c.(574-576)GGG>GCG	p.G192A	BRSK1_uc002qkf.2_Missense_Mutation_p.G208A	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	192	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACCAGCTGCGGGTGAGTGGGG	0.612													56	108	---	---	---	---	PASS
NLRP13	126204	broad.mit.edu	37	19	56443683	56443683	+	5'UTR	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56443683C>T	uc010ygg.1	-	1						NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing								ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCATCTTGCCCAACACATGC	0.463													26	30	---	---	---	---	PASS
ZSCAN22	342945	broad.mit.edu	37	19	58849997	58849997	+	Missense_Mutation	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58849997A>G	uc002qsc.2	+	3	928	c.781A>G	c.(781-783)ACC>GCC	p.T261A	ZSCAN22_uc010yhz.1_Silent_p.T255T	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	261					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCCTCCATACACCTACTCAGG	0.532													84	131	---	---	---	---	PASS
RPS5	6193	broad.mit.edu	37	19	58906108	58906108	+	Silent	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58906108C>G	uc002qsn.2	+	6	678	c.606C>G	c.(604-606)TCC>TCG	p.S202S	RPS5_uc002qso.2_Silent_p.S202S	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	202					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		TGGCCAAGTCCAACCGCTGAT	0.572													24	62	---	---	---	---	PASS
CPXM1	56265	broad.mit.edu	37	20	2776234	2776234	+	Intron	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2776234C>A	uc002wgu.2	-						CPXM1_uc010gas.2_Intron	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor						cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						ACTCCACCCTCAGGCACATAC	0.637													9	35	---	---	---	---	PASS
PRNT	149830	broad.mit.edu	37	20	4713279	4713279	+	RNA	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4713279A>T	uc002wlb.2	-	2		c.745T>A			PRNT_uc010zqp.1_RNA|PRNT_uc010zqq.1_RNA	NR_024268				Homo sapiens mRNA for putative M8 protein, isoform 2.												0						aagatgggaaagatgtagaat	0.000													7	22	---	---	---	---	PASS
GPCPD1	56261	broad.mit.edu	37	20	5554612	5554612	+	Silent	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5554612C>T	uc002wme.3	-	11	1218	c.1005G>A	c.(1003-1005)CTG>CTA	p.L335L	GPCPD1_uc002wmd.3_Silent_p.L154L	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	335	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						GAACTTTAGCCAGCCTGAAAA	0.318													48	40	---	---	---	---	PASS
PAX1	5075	broad.mit.edu	37	20	21689284	21689284	+	Silent	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21689284C>A	uc002wsj.2	+	3	1059	c.1005C>A	c.(1003-1005)CCC>CCA	p.P335P	PAX1_uc010zsl.1_Silent_p.P335P|PAX1_uc010zsm.1_Silent_p.P311P	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	335					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CCGCCACCCCCGCAGTGAATG	0.602													26	106	---	---	---	---	PASS
SSTR4	6754	broad.mit.edu	37	20	23016271	23016271	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23016271C>G	uc002wsr.2	+	1	215	c.151C>G	c.(151-153)CAG>GAG	p.Q51E		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	51	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTCGCTATCCAGTGCATCTA	0.537													78	48	---	---	---	---	PASS
CD93	22918	broad.mit.edu	37	20	23065047	23065047	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23065047G>T	uc002wsv.2	-	1	1931	c.1783C>A	c.(1783-1785)CTC>ATC	p.L595I		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	595	Helical; (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCAGCAGGAGTAGGATGGCC	0.572													46	237	---	---	---	---	PASS
TMEM90B	79953	broad.mit.edu	37	20	24524213	24524213	+	Silent	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24524213G>A	uc002wtw.1	+	2	1113	c.480G>A	c.(478-480)GAG>GAA	p.E160E		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	160	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						AGGAGCTGGAGGTCACAGGAT	0.512													20	118	---	---	---	---	PASS
PYGB	5834	broad.mit.edu	37	20	25259697	25259697	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25259697C>A	uc002wup.2	+	9	1113	c.1004C>A	c.(1003-1005)GCC>GAC	p.A335D		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	335					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	CTTCAGGTGGCCATCCAGCTG	0.607													16	13	---	---	---	---	PASS
BLCAP	10904	broad.mit.edu	37	20	36149816	36149816	+	5'Flank	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36149816C>A	uc002xha.2	-						BLCAP_uc002xhb.2_Intron|BLCAP_uc002xhc.2_Intron|NNAT_uc002xhd.2_Intron|NNAT_uc002xhe.2_Intron	NM_006698	NP_006689	P62952	BLCAP_HUMAN	bladder cancer associated protein						apoptosis|cell cycle	integral to membrane					0		Myeloproliferative disorder(115;0.00878)				GTAAGTCTGACGGGGTTTCGG	0.632													44	57	---	---	---	---	PASS
KIAA1755	85449	broad.mit.edu	37	20	36850858	36850858	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36850858C>T	uc002xhy.1	-	10	2682	c.2410G>A	c.(2410-2412)GAT>AAT	p.D804N	KIAA1755_uc002xhx.1_Missense_Mutation_p.D82N	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	804										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				TACCTGACATCAGGGCTGAAG	0.637											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	45	---	---	---	---	PASS
STK4	6789	broad.mit.edu	37	20	43607148	43607148	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43607148G>T	uc002xnb.2	+	3	271	c.181G>T	c.(181-183)GTT>TTT	p.V61F	STK4_uc010ggx.2_Missense_Mutation_p.V61F|STK4_uc010ggy.2_Missense_Mutation_p.V61F|STK4_uc010ggw.1_Missense_Mutation_p.V61F	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	61	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				TATTAAGCAAGTTCCTGTGGA	0.418													27	35	---	---	---	---	PASS
SLC12A5	57468	broad.mit.edu	37	20	44663630	44663630	+	Silent	SNP	C	G	G	rs143969641	byFrequency	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44663630C>G	uc010zxl.1	+	2	241	c.165C>G	c.(163-165)ACC>ACG	p.T55T	SLC12A5_uc002xra.2_Silent_p.T32T|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.T32T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	55	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAACAGCACCGACACAGAGA	0.527													13	48	---	---	---	---	PASS
NFATC2	4773	broad.mit.edu	37	20	50049180	50049180	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50049180C>T	uc002xwd.2	-	9	2366	c.2146G>A	c.(2146-2148)GAG>AAG	p.E716K	NFATC2_uc002xwc.2_Missense_Mutation_p.E716K|NFATC2_uc010zyv.1_Missense_Mutation_p.E497K|NFATC2_uc010zyw.1_Missense_Mutation_p.E497K|NFATC2_uc010zyx.1_Missense_Mutation_p.E696K|NFATC2_uc010zyy.1_Missense_Mutation_p.E497K|NFATC2_uc010zyz.1_Missense_Mutation_p.E497K|NFATC2_uc002xwe.2_Missense_Mutation_p.E696K	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	716					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GAGGGGGACTCGGCCACCATC	0.672													19	21	---	---	---	---	PASS
NTSR1	4923	broad.mit.edu	37	20	61340679	61340679	+	Silent	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61340679C>G	uc002ydf.2	+	1	491	c.120C>G	c.(118-120)GGC>GGG	p.G40G		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	40	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACGCTTCGGGCAACGCGTCGG	0.731													6	8	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	21	10863046	10863046	+	IGR	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10863046C>A								None (None upstream) : TPTE (43697 downstream)																							CCATGTATTACTGTGTGAGAG	0.502													257	238	---	---	---	---	PASS
TIAM1	7074	broad.mit.edu	37	21	32513449	32513449	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32513449C>A	uc002yow.1	-	23	4233	c.3761G>T	c.(3760-3762)GGT>GTT	p.G1254V	TIAM1_uc011adk.1_Missense_Mutation_p.G1254V|TIAM1_uc011adl.1_Missense_Mutation_p.G1194V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1254					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TTTTTTCTCACCAGTCTGTTC	0.408													18	12	---	---	---	---	PASS
TRAPPC10	7109	broad.mit.edu	37	21	45494322	45494322	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45494322G>T	uc002zea.2	+	8	1325	c.1156G>T	c.(1156-1158)GTG>TTG	p.V386L	TRAPPC10_uc010gpo.2_Missense_Mutation_p.V97L	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	386					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TGCCCACACTGTGGGGCTATG	0.572													13	19	---	---	---	---	PASS
DGCR14	8220	broad.mit.edu	37	22	19127542	19127542	+	Intron	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19127542T>A	uc002zou.2	-						DGCR14_uc002zot.2_Intron|DGCR14_uc002zov.2_Intron	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14						nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					CCTCTCCTGCTTAGGGGTTGC	0.597													12	53	---	---	---	---	PASS
SCARF2	91179	broad.mit.edu	37	22	20780198	20780198	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20780198C>T	uc002zsj.1	-	11	2185	c.2080G>A	c.(2080-2082)GAG>AAG	p.E694K	SCARF2_uc002zsk.1_Missense_Mutation_p.E689K	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	689	Pro-rich.|Cytoplasmic (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGCGCGGCCTCGGAGCCTGGC	0.721													4	13	---	---	---	---	PASS
MYO18B	84700	broad.mit.edu	37	22	26272168	26272168	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26272168G>A	uc003abz.1	+	24	4343	c.4093G>A	c.(4093-4095)GCT>ACT	p.A1365T	MYO18B_uc003aca.1_Missense_Mutation_p.A1246T|MYO18B_uc010guy.1_Missense_Mutation_p.A1247T|MYO18B_uc010guz.1_Missense_Mutation_p.A1246T|MYO18B_uc011aka.1_Missense_Mutation_p.A519T|MYO18B_uc011akb.1_Missense_Mutation_p.A878T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1365	IQ.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TCGCCGACTGGCTGCACAGTG	0.572													5	15	---	---	---	---	PASS
SEZ6L	23544	broad.mit.edu	37	22	26773647	26773647	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26773647A>T	uc003acb.2	+	16	3107	c.2951A>T	c.(2950-2952)TAC>TTC	p.Y984F	SEZ6L_uc003acc.2_Missense_Mutation_p.Y983F|SEZ6L_uc011akc.1_Missense_Mutation_p.Y973F|SEZ6L_uc003acd.2_Missense_Mutation_p.Y909F|SEZ6L_uc011akd.1_Missense_Mutation_p.Y971F|SEZ6L_uc003ace.2_Missense_Mutation_p.Y908F|SEZ6L_uc003acf.1_Missense_Mutation_p.Y756F|SEZ6L_uc010gvc.1_Missense_Mutation_p.Y680F|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	984	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						AGATGTCGCTACTATTCCAAC	0.512													32	40	---	---	---	---	PASS
CHEK2	11200	broad.mit.edu	37	22	29092887	29092887	+	Splice_Site	SNP	A	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29092887A>G	uc003adu.1	-	10	1167	c.1095_splice	c.e10+1	p.K365_splice	CHEK2_uc003ads.1_Splice_Site_p.K144_splice|CHEK2_uc010gvh.1_Splice_Site_p.K274_splice|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Splice_Site|CHEK2_uc010gvk.1_Splice_Site|CHEK2_uc003adt.1_Splice_Site_p.K408_splice|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Splice_Site_p.K365_splice|CHEK2_uc003adx.1_Splice_Site_p.K144_splice|CHEK2_uc003ady.1_Splice_Site_p.K365_splice|CHEK2_uc003adz.1_Splice_Site_p.K169_splice	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a						cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CCAATTTCTTACCTTTATAAG	0.358			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				16	18	---	---	---	---	PASS
RFPL2	10739	broad.mit.edu	37	22	32586857	32586857	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32586857A>T	uc003amg.3	-	5	1975	c.1039T>A	c.(1039-1041)TCA>ACA	p.S347T	RFPL2_uc003ame.3_Missense_Mutation_p.S286T|RFPL2_uc003amf.3_Missense_Mutation_p.S257T|RFPL2_uc003amh.3_Missense_Mutation_p.S257T	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	347	B30.2/SPRY.						zinc ion binding			skin(1)	1						GGTGGAACTGAAGGAGCCAAA	0.488													40	64	---	---	---	---	PASS
SYN3	8224	broad.mit.edu	37	22	32937569	32937569	+	Missense_Mutation	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32937569T>C	uc003amx.2	-	7	1064	c.905A>G	c.(904-906)TAC>TGC	p.Y302C	SYN3_uc003amy.2_Missense_Mutation_p.Y302C|SYN3_uc003amz.2_Missense_Mutation_p.Y301C	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	302	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						GTAAGCCTTGTAGTTGGATCC	0.592													15	18	---	---	---	---	PASS
HMGXB4	10042	broad.mit.edu	37	22	35660629	35660629	+	Intron	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35660629G>T	uc003anl.2	+						HMGXB4_uc011amh.1_Intron|HMGXB4_uc003ank.2_Intron	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1						endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						TACTTCTCTTGATTATTTCTA	0.388													19	87	---	---	---	---	PASS
MCM5	4174	broad.mit.edu	37	22	35809887	35809887	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35809887C>A	uc003anu.3	+	9	1205	c.1111C>A	c.(1111-1113)CGC>AGC	p.R371S	MCM5_uc010gwr.2_Missense_Mutation_p.R180S|MCM5_uc003anv.3_Missense_Mutation_p.R328S|MCM5_uc010gws.1_Intron|MCM5_uc003anw.1_Missense_Mutation_p.R155S	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	371	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						TGGACTTACTCGCCGAGGAGA	0.562													26	30	---	---	---	---	PASS
SSTR3	6753	broad.mit.edu	37	22	37602607	37602607	+	Silent	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37602607C>G	uc003ara.2	-	2	1298	c.1236G>C	c.(1234-1236)ACG>ACC	p.T412T	SSTR3_uc003arb.2_Silent_p.T412T	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	412	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						TGATGCGCATCGTGCTGGACT	0.657													28	34	---	---	---	---	PASS
CACNA1I	8911	broad.mit.edu	37	22	40080432	40080432	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40080432C>T	uc003ayc.2	+	36	5956	c.5956C>T	c.(5956-5958)CCC>TCC	p.P1986S	CACNA1I_uc003ayd.2_Missense_Mutation_p.P1951S|CACNA1I_uc003aye.2_Missense_Mutation_p.P1901S|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1866S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1986	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGAACCCTCCCCAAGATTGC	0.637													4	13	---	---	---	---	PASS
TNRC6B	23112	broad.mit.edu	37	22	40662558	40662558	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40662558G>T	uc011aor.1	+	5	2535	c.2324G>T	c.(2323-2325)GGA>GTA	p.G775V	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.G775V|TNRC6B_uc003ayo.2_Missense_Mutation_p.G579V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	775					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						TGGGGTGAAGGAGGGCAGAAT	0.498													13	11	---	---	---	---	PASS
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41565529G>A	uc003azl.3	+	26	4590	c.4195G>A	c.(4195-4197)GAT>AAT	p.D1399N		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1399				D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399Y(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ATCTTACCTCGATAGTGTTCA	0.338			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				24	46	---	---	---	---	PASS
MEI1	150365	broad.mit.edu	37	22	42159237	42159237	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42159237A>T	uc003baz.1	+	19	2205	c.2180A>T	c.(2179-2181)GAC>GTC	p.D727V	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.D113V|MEI1_uc003bbc.1_Missense_Mutation_p.D95V|MEI1_uc010gym.1_Missense_Mutation_p.D95V|MEI1_uc003bbd.1_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	727							binding			central_nervous_system(1)|skin(1)	2						TCGCTGCAGGACCAGGGCGAG	0.527											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	32	---	---	---	---	PASS
SLC25A6	293	broad.mit.edu	37	X	1505504	1505504	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1505504C>G	uc004cpt.2	-	4	984	c.888G>C	c.(886-888)AAG>AAC	p.K296N	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	296	Helical; Name=6; (By similarity).|Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTAGATCACCTTCTTGAGCT	0.612													52	73	---	---	---	---	PASS
MAGEB18	286514	broad.mit.edu	37	X	26157961	26157961	+	Missense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26157961T>A	uc004dbq.1	+	2	1046	c.859T>A	c.(859-861)TTT>ATT	p.F287I		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	287	MAGE.						protein binding			central_nervous_system(1)	1						AGTCCTGGAGTTTGTAGCCAA	0.522													10	7	---	---	---	---	PASS
MAGEB6	158809	broad.mit.edu	37	X	26212377	26212377	+	Silent	SNP	T	A	A	rs138255352	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26212377T>A	uc004dbr.2	+	2	563	c.414T>A	c.(412-414)ACT>ACA	p.T138T	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	138	Ser-rich.									ovary(3)	3						GTCCAAGCACTTCCCATGATG	0.537													35	8	---	---	---	---	PASS
FAM47A	158724	broad.mit.edu	37	X	34148160	34148160	+	Nonsense_Mutation	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34148160T>A	uc004ddg.2	-	1	2269	c.2236A>T	c.(2236-2238)AAG>TAG	p.K746*		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	746										ovary(4)|central_nervous_system(1)	5						TCATAGCCCTTGCTTAGAATG	0.413													59	20	---	---	---	---	PASS
SLC7A3	84889	broad.mit.edu	37	X	70148090	70148090	+	Missense_Mutation	SNP	G	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70148090G>A	uc004dyn.2	-	5	883	c.725C>T	c.(724-726)TCT>TTT	p.S242F	SLC7A3_uc004dyo.2_Missense_Mutation_p.S242F	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	242	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAATCCTCCAGAGCCCAGAGG	0.488													7	3	---	---	---	---	PASS
CXCR3	2833	broad.mit.edu	37	X	70836893	70836893	+	Silent	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70836893G>C	uc004eaf.2	-	2	497	c.429C>G	c.(427-429)GCC>GCG	p.A143A	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.A190A	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	143	Helical; Name=3; (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)					AGCTGATGCAGGCCAGCAGGA	0.522													4	4	---	---	---	---	PASS
ITM2A	9452	broad.mit.edu	37	X	78619025	78619025	+	Silent	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:78619025T>C	uc004edh.2	-	2	473	c.138A>G	c.(136-138)AAA>AAG	p.K46K	ITM2A_uc011mqr.1_Intron	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	46						integral to membrane	protein binding			lung(2)	2						AGGAGCCCTCTTTTTCCTGGG	0.403													7	5	---	---	---	---	PASS
PCDH11X	27328	broad.mit.edu	37	X	91134039	91134039	+	Missense_Mutation	SNP	G	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91134039G>T	uc004efk.1	+	2	3645	c.2800G>T	c.(2800-2802)GAT>TAT	p.D934Y	PCDH11X_uc004efl.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D934Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D934Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	934	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CGACAGCCCTGATTTGGCCCG	0.473													67	14	---	---	---	---	PASS
DRP2	1821	broad.mit.edu	37	X	100509889	100509889	+	Missense_Mutation	SNP	C	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100509889C>T	uc004egz.2	+	19	2525	c.2156C>T	c.(2155-2157)TCC>TTC	p.S719F	DRP2_uc011mrh.1_Missense_Mutation_p.S641F	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	719					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GACACACACTCCCGAATTGAG	0.577													38	17	---	---	---	---	PASS
NXF3	56000	broad.mit.edu	37	X	102331241	102331241	+	Intron	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102331241G>C	uc004eju.2	-							NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3							cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TGTGGTGGAGGAAGGACAGGT	0.468													8	23	---	---	---	---	PASS
KIAA1210	57481	broad.mit.edu	37	X	118221161	118221161	+	Silent	SNP	T	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118221161T>C	uc004era.3	-	11	4032	c.4032A>G	c.(4030-4032)CCA>CCG	p.P1344P		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1344										ovary(4)|skin(1)	5						ATGACATCTGTGGCTGGAATT	0.483													148	45	---	---	---	---	PASS
SAGE1	55511	broad.mit.edu	37	X	134993741	134993741	+	Missense_Mutation	SNP	C	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134993741C>A	uc004ezh.2	+	18	2317	c.2150C>A	c.(2149-2151)GCT>GAT	p.A717D	SAGE1_uc010nry.1_Missense_Mutation_p.A686D|SAGE1_uc011mvv.1_Missense_Mutation_p.A341D	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	717										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					ATTCCAGATGCTACTGTCATT	0.433													48	16	---	---	---	---	PASS
GPR112	139378	broad.mit.edu	37	X	135428121	135428121	+	Silent	SNP	T	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135428121T>A	uc004ezu.1	+	6	2547	c.2256T>A	c.(2254-2256)CCT>CCA	p.P752P	GPR112_uc010nsb.1_Silent_p.P547P|GPR112_uc010nsc.1_Silent_p.P519P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	752	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CCAATATGCCTGAATTTAAAC	0.378													28	16	---	---	---	---	PASS
CXorf66	347487	broad.mit.edu	37	X	139038632	139038632	+	Nonsense_Mutation	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139038632G>C	uc004fbb.2	-	3	531	c.509C>G	c.(508-510)TCA>TGA	p.S170*		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	170	Ser-rich.|Cytoplasmic (Potential).					integral to membrane					0						TAATTTTTTTGAGCATGATGA	0.398													136	51	---	---	---	---	PASS
MIR513C	100302114	broad.mit.edu	37	X	146271304	146271304	+	RNA	SNP	G	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146271304G>C	hsa-mir-513c|MI0006649	-			c.2G>C																				0						ggcactgtacgctgaatggct	0.164													5	1	---	---	---	---	PASS
AVPR2	554	broad.mit.edu	37	X	153171711	153171711	+	Missense_Mutation	SNP	C	A	A	rs113115774		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153171711C>A	uc004fjh.3	+	2	822	c.751C>A	c.(751-753)CGC>AGC	p.R251S	AVPR2_uc004fjg.3_Missense_Mutation_p.R40S|AVPR2_uc004fji.2_Missense_Mutation_p.R251S	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	251	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGCAGGGGACGCCGGACAGG	0.647													33	9	---	---	---	---	PASS
IL9R	3581	broad.mit.edu	37	X	155239643	155239643	+	Missense_Mutation	SNP	C	G	G			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:155239643C>G	uc004fnv.1	+	9	1314	c.1135C>G	c.(1135-1137)CCT>GCT	p.P379A	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	379	Cytoplasmic (Potential).				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGGAGGGCCCTGGGACCAG	0.647													14	36	---	---	---	---	PASS
TBL1Y	90665	broad.mit.edu	37	Y	6938804	6938804	+	Missense_Mutation	SNP	A	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:6938804A>T	uc004frb.2	+	10	1281	c.634A>T	c.(634-636)AGC>TGC	p.S212C	TBL1Y_uc004frc.2_Missense_Mutation_p.S212C|TBL1Y_uc004frd.2_Missense_Mutation_p.S212C|TBL1Y_uc011nap.1_Missense_Mutation_p.S54C	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN	transducin beta-like 1Y	212	WD 1.				transcription, DNA-dependent						0						GAATGAGAATAGCAACGGGGG	0.483													38	13	---	---	---	---	PASS
MEGF6	1953	broad.mit.edu	37	1	3421601	3421617	+	Intron	DEL	CAAGGCAACACCGGTAG	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3421601_3421617delCAAGGCAACACCGGTAG	uc001akl.2	-						MEGF6_uc001akk.2_Intron	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor							extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GACAGGCCGTCAAGGCAACACCGGTAGCAAGGCAACA	0.641													6	3	---	---	---	---	
MEAF6	64769	broad.mit.edu	37	1	37961306	37961306	+	Intron	DEL	A	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37961306delA	uc001cbg.1	-						MEAF6_uc001cbd.1_Intron|MEAF6_uc001cbe.1_Intron|MEAF6_uc009vvd.1_Intron|MEAF6_uc001cbf.1_Intron	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6						histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding				0						aacaaaaaacaaaaaaaaaaa	0.159													4	2	---	---	---	---	
C1orf173	127254	broad.mit.edu	37	1	75078365	75078371	+	Frame_Shift_Del	DEL	CAAGCCT	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75078365_75078371delCAAGCCT	uc001dgg.2	-	9	1342_1348	c.1123_1129delAGGCTTG	c.(1123-1131)AGGCTTGGAfs	p.R375fs	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Frame_Shift_Del_p.R169fs	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	375_377										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CGTTTGCCTCCAAGCCTGGAACCTTTC	0.459													17	16	---	---	---	---	
ABCD3	5825	broad.mit.edu	37	1	94883978	94883980	+	5'UTR	DEL	GCC	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94883978_94883980delGCC	uc001dqn.3	+	1					ABCD3_uc001dqm.3_5'UTR|ABCD3_uc010oto.1_5'UTR|ABCD3_uc010otp.1_5'UTR|ABCD3_uc009wdr.2_5'UTR	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3						peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CAGTAAGGTAgccgccgccgccg	0.404													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	1	142803302	142803303	+	Intron	INS	-	AAA	AAA	rs79529551		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:142803302_142803303insAAA	uc001eiw.1	+						uc001ejb.2_RNA|uc001ejc.2_5'Flank					Homo sapiens PNAS-130 mRNA, complete cds.																		acaacaacaacaaACAGGATGT	0.223													3	3	---	---	---	---	
LOC728989	728989	broad.mit.edu	37	1	146512830	146512830	+	Intron	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146512830delC	uc001epd.2	-							NR_024442				SubName: Full=cDNA FLJ59595, highly similar to Homo sapiens phosphodiesterase 4D interacting protein, transcript variant 1, mRNA;												0						TTTAATTCTGCCAAAGTCAGA	0.413													9	6	---	---	---	---	
Unknown	0	broad.mit.edu	37	1	156606196	156606215	+	IGR	DEL	CTTCCTTCCTTTCTTTCTTT	-	-	rs58891063	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156606196_156606215delCTTCCTTCCTTTCTTTCTTT								HAPLN2 (10679 upstream) : BCAN (5525 downstream)																							tccttccttccttccttcctttctttctttctttctttct	0.000													4	2	---	---	---	---	
NCSTN	23385	broad.mit.edu	37	1	160326366	160326366	+	Intron	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160326366delC	uc001fvx.2	+						NCSTN_uc001fvy.2_Intron|NCSTN_uc010pjf.1_Intron|NCSTN_uc001fvz.2_Intron|NCSTN_uc010pjg.1_Intron	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor						amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCAAATCTTCCCTTCCCTTT	0.488													59	40	---	---	---	---	
UGP2	7360	broad.mit.edu	37	2	64082652	64082654	+	Intron	DEL	CTG	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64082652_64082654delCTG	uc002scm.2	+						UGP2_uc002scl.2_Intron|UGP2_uc010ypx.1_Intron	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a						glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						Gtttctttttctgtttttttttt	0.158													6	3	---	---	---	---	
SFTPB	6439	broad.mit.edu	37	2	85893617	85893618	+	Intron	DEL	TG	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85893617_85893618delTG	uc002sqh.2	-						SFTPB_uc002sqi.2_Intron|SFTPB_uc002sqj.2_Intron	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B						organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						GCTTGGGTGCtgtgtgtgtgtg	0.515													5	3	---	---	---	---	
MAPKAPK3	7867	broad.mit.edu	37	3	50683800	50683800	+	Intron	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50683800delC	uc003day.1	+						MAPKAPK3_uc003daz.1_Intron|MAPKAPK3_uc003dba.1_Intron|MAPKAPK3_uc010hlr.1_Intron	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated						activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		aatcttggctccccctctttc	0.209													4	6	---	---	---	---	
VPRBP	9730	broad.mit.edu	37	3	51472145	51472145	+	Intron	DEL	T	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51472145delT	uc003dbe.1	-							NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein						interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGTTATGCATTTTTTTTTAA	0.284													4	2	---	---	---	---	
MORC1	27136	broad.mit.edu	37	3	108781023	108781023	+	Intron	DEL	A	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108781023delA	uc003dxl.2	-						MORC1_uc011bhn.1_Intron	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						ATGATCTGAGAAAACCCTATG	0.299													7	4	---	---	---	---	
EIF2A	83939	broad.mit.edu	37	3	150282062	150282062	+	Intron	DEL	T	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150282062delT	uc003eya.2	+						SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Intron|EIF2A_uc003eyc.2_Intron|EIF2A_uc011bnv.1_Intron|EIF2A_uc011bnw.1_Intron|EIF2A_uc003eyd.2_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A						regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTTTTATACTTTTTTTTTTT	0.289													9	4	---	---	---	---	
NHEDC1	150159	broad.mit.edu	37	4	103826510	103826511	+	Intron	DEL	CA	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103826510_103826511delCA	uc003hww.2	-						NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1							integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		cctgagtagccaggaCTGGTTA	0.119													4	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	4	142264240	142264240	+	IGR	DEL	A	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:142264240delA								ZNF330 (108392 upstream) : IL15 (293514 downstream)																							ggaaggaaggaaaggaaggaa	0.070													4	2	---	---	---	---	
TAS2R1	50834	broad.mit.edu	37	5	9630243	9630243	+	5'UTR	DEL	G	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9630243delG	uc003jem.1	-	1						NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1						chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						GGACTCCTCTGGGGAAGAAGA	0.348													3	3	---	---	---	---	
DMXL1	1657	broad.mit.edu	37	5	118556098	118556118	+	Intron	DEL	TCAAAAGCAGCTCATATACTA	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118556098_118556118delTCAAAAGCAGCTCATATACTA	uc003ksd.2	+						DMXL1_uc010jcl.1_Intron	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1											ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTACCATTTTCAAAAGCAGCTCATATACTATCTCTTTTGC	0.330													4	2	---	---	---	---	
TMED9	54732	broad.mit.edu	37	5	177019688	177019688	+	Intron	DEL	G	-	-	rs4607363	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177019688delG	uc003mhx.2	+						TMED9_uc010jko.2_Intron	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain						transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGCCAACCGCCCCCCTCCT	0.612													6	3	---	---	---	---	
DNAH8	1769	broad.mit.edu	37	6	38906788	38906788	+	Intron	DEL	T	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38906788delT	uc003ooe.1	+						DNAH8_uc003oog.1_Intron|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GATACAGATGTGGTGTGTGGA	0.383													14	14	---	---	---	---	
SDK1	221935	broad.mit.edu	37	7	4247938	4247939	+	Intron	INS	-	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4247938_4247939insT	uc003smx.2	+						SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Intron	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor						cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCGGGTTTCCTTTGGGCAGGC	0.639													10	9	---	---	---	---	
GARS	2617	broad.mit.edu	37	7	30662266	30662267	+	Intron	INS	-	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30662266_30662267insT	uc003tbm.2	+							NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase						cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	ATAGAATATACTTTTTTTTTTT	0.361													4	2	---	---	---	---	
HECW1	23072	broad.mit.edu	37	7	43483903	43483903	+	Frame_Shift_Del	DEL	G	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43483903delG	uc003tid.1	+	11	1737	c.1132delG	c.(1132-1134)GGGfs	p.G378fs	HECW1_uc011kbi.1_Frame_Shift_Del_p.G378fs	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	378					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						AAGCGGCAGTGGGGAACCTCG	0.567													21	18	---	---	---	---	
Unknown	0	broad.mit.edu	37	7	65226569	65226569	+	Intron	DEL	T	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65226569delT	uc003tud.1	-						CCT6P1_uc003tug.2_Intron|CCT6P1_uc003tuh.2_Intron|CCT6P1_uc003tui.2_Intron					Homo sapiens hypothetical LOC441242, mRNA (cDNA clone MGC:87648 IMAGE:5267764), complete cds.																		gcccggccCCttttttttttt	0.149													4	3	---	---	---	---	
SSPO	23145	broad.mit.edu	37	7	149502737	149502737	+	Intron	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149502737delC	uc010lpk.2	+							NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAGAAGAATGCCCCCTTGAGC	0.632													10	6	---	---	---	---	
Unknown	0	broad.mit.edu	37	8	43125675	43125675	+	IGR	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:43125675delC								HGSNAT (67706 upstream) : POTEA (21910 downstream)																							AGAACCCCTTCCTTTTATGTC	0.483													8	5	---	---	---	---	
WDYHV1	55093	broad.mit.edu	37	8	124442115	124442141	+	Intron	DEL	GTCTCAAAAAAAAAAAAAAAAAATCCC	-	-	rs71961566		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124442115_124442141delGTCTCAAAAAAAAAAAAAAAAAATCCC	uc003yqn.1	+						WDYHV1_uc011lij.1_Intron|WDYHV1_uc003yqo.1_5'Flank	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1						protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)|skin(1)	2						gcaggactctgtctcaaaaaaaaaaaaaaaaaatcccgtctcaaaaa	0.110													8	5	---	---	---	---	
ANXA13	312	broad.mit.edu	37	8	124693325	124693326	+	3'UTR	INS	-	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124693325_124693326insA	uc003yqu.2	-	11					ANXA13_uc003yqt.2_3'UTR	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a						cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCCTTAACTTACACAGCTTGG	0.485													59	57	---	---	---	---	
Unknown	0	broad.mit.edu	37	9	99685055	99685056	+	IGR	INS	-	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99685055_99685056insA								LOC441454 (12319 upstream) : FAM22G (5536 downstream)																							gactccgtctcaaaaaaaaaaa	0.178													4	4	---	---	---	---	
SVEP1	79987	broad.mit.edu	37	9	113192388	113192388	+	Intron	DEL	T	-	-	rs11331398		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113192388delT	uc010mtz.2	-						SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						gtttgttttcttttttttttt	0.303													4	2	---	---	---	---	
TTC16	158248	broad.mit.edu	37	9	130489067	130489089	+	Intron	DEL	AAAAAAAAAAAAAAAAAAAAAAA	-	-	rs66486742		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130489067_130489089delAAAAAAAAAAAAAAAAAAAAAAA	uc004brq.1	+						PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Intron|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Intron	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16								binding				0						actctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa	0.197													2	5	---	---	---	---	
CYP2E1	1571	broad.mit.edu	37	10	135368279	135368279	+	3'UTR	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135368279delC	uc001lnl.1	+	6					SYCE1_uc001lnm.2_Intron|SYCE1_uc009ybn.2_Intron|SYCE1_uc001lnn.2_Intron			P05181	CP2E1_HUMAN	SubName: Full=Cytochrome P450, family 2, subfamily E, polypeptide 1 variant; Flags: Fragment;						drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GAGAGCGTCTCGGGCCTGCAT	0.512									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				7	4	---	---	---	---	
UBQLN3	50613	broad.mit.edu	37	11	5529644	5529644	+	Frame_Shift_Del	DEL	G	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5529644delG	uc001may.1	-	2	1231	c.1145delC	c.(1144-1146)CCAfs	p.P382fs	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	382										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGACGATGGGGGAACTCT	0.567													60	52	---	---	---	---	
PARVA	55742	broad.mit.edu	37	11	12399163	12399163	+	5'UTR	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12399163delC	uc001mki.2	+	1					PARVA_uc001mkh.2_5'UTR	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	parvin, alpha						cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)	3				Epithelial(150;0.00624)		AGCTCCGCGTCCCGACCGGCC	0.706													5	6	---	---	---	---	
PAMR1	25891	broad.mit.edu	37	11	35462851	35462851	+	Intron	DEL	A	-	-	rs79736526		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35462851delA	uc001mwg.2	-						PAMR1_uc001mwf.2_Intron|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Intron	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform						proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						TCTTGAGGTCAAAAAAAAAAA	0.393													6	3	---	---	---	---	
ATM	472	broad.mit.edu	37	11	108224428	108224428	+	Intron	DEL	T	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108224428delT	uc001pkb.1	+						ATM_uc009yxr.1_Intron|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAGTTCACATTCTAACTGGA	0.383			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			20	9	---	---	---	---	
IGSF9B	22997	broad.mit.edu	37	11	133790758	133790758	+	Frame_Shift_Del	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133790758delC	uc001qgx.3	-	18	3093	c.2862delG	c.(2860-2862)CGGfs	p.R954fs		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	954	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCAGGGGGCCGGGCCTGGC	0.706													19	13	---	---	---	---	
DDX12	440081	broad.mit.edu	37	12	9590500	9590501	+	Intron	INS	-	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9590500_9590501insC	uc010sgs.1	-						DDX12_uc009zgq.1_5'Flank	NM_004400	NP_004391			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12												0						GAGAGGCACAGCAACGGCAGGG	0.599													6	3	---	---	---	---	
DDX11	1663	broad.mit.edu	37	12	31255772	31255773	+	Intron	INS	-	G	G	rs149786035	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31255772_31255773insG	uc001rjt.1	+						DDX11_uc001rjr.1_Intron|DDX11_uc001rjs.1_Intron|DDX11_uc001rju.1_Intron|DDX11_uc001rjv.1_Intron|DDX11_uc001rjw.1_Intron|DDX11_uc009zjn.1_Intron|DDX11_uc009zjo.1_Intron	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11						G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAGTCGGAGAGGCTGAGGGAA	0.604										Multiple Myeloma(12;0.14)			5	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	12	38595970	38595970	+	IGR	DEL	G	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:38595970delG								None (None upstream) : ALG10B (114587 downstream)																							TGGGCGCCATGGACTCTGTGC	0.642													25	12	---	---	---	---	
TRHDE	29953	broad.mit.edu	37	12	72956818	72956818	+	Frame_Shift_Del	DEL	C	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72956818delC	uc001sxa.2	+	9	1935	c.1905delC	c.(1903-1905)AACfs	p.N635fs		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	635	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TTCAGAATAACAGGTATGACA	0.264													80	46	---	---	---	---	
Unknown	0	broad.mit.edu	37	13	83421151	83421154	+	IGR	DEL	AAGG	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:83421151_83421154delAAGG								None (None upstream) : None (None downstream)																							ggaagaaacaaaggaaggaaggaa	0.000													3	3	---	---	---	---	
OR4M1	441670	broad.mit.edu	37	14	20248696	20248696	+	Frame_Shift_Del	DEL	G	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20248696delG	uc010tku.1	+	1	215	c.215delG	c.(214-216)TGGfs	p.W72fs		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGATATTTGGTACTCTTCC	0.428													99	128	---	---	---	---	
RBM23	55147	broad.mit.edu	37	14	23373608	23373608	+	Intron	DEL	T	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23373608delT	uc001whg.2	-						RBM23_uc001whh.2_Intron|RBM23_uc001whi.2_Intron|RBM23_uc010tne.1_Intron|RBM23_uc001whj.2_Intron|RBM23_uc001whk.1_Intron	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1						mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CCCAGACTGCTTTTTTTTTTT	0.269													6	6	---	---	---	---	
SLC24A4	123041	broad.mit.edu	37	14	92915626	92915633	+	Intron	DEL	ACACACAC	-	-	rs113450887		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92915626_92915633delACACACAC	uc001yak.2	+						SLC24A4_uc001yai.2_Intron|SLC24A4_uc010twm.1_Intron|SLC24A4_uc001yaj.2_Intron|SLC24A4_uc010auj.2_Intron|SLC24A4_uc010twn.1_Intron|uc001yal.1_5'Flank	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1							integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCTTTTGTGTacacacacacacacacac	0.418													3	3	---	---	---	---	
SERPINA5	5104	broad.mit.edu	37	14	95058339	95058339	+	Intron	DEL	A	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95058339delA	uc001ydm.2	+						SERPINA3_uc001ydo.3_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade						fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCCATTTGCTATGATGACTTC	0.488													58	41	---	---	---	---	
SV2B	9899	broad.mit.edu	37	15	91825222	91825222	+	Intron	DEL	G	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91825222delG	uc002bqv.2	+						SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog						neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AAGCCTTGGTggggaaatgga	0.194													9	5	---	---	---	---	
NOMO3	408050	broad.mit.edu	37	16	16350133	16350134	+	Intron	INS	-	T	T			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16350133_16350134insT	uc002deq.2	+						NOMO3_uc002dep.2_Intron|NOMO3_uc010bvp.1_Intron	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	nodal modulator 3 precursor							integral to membrane	carbohydrate binding|carboxypeptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AAGATTAGTACttttttttttt	0.208													9	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	17	65772734	65772734	+	IGR	DEL	A	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65772734delA								NOL11 (32468 upstream) : BPTF (49046 downstream)																							actccatctcaaaaaaaaaaa	0.229													4	2	---	---	---	---	
RNF157	114804	broad.mit.edu	37	17	74160693	74160693	+	Intron	DEL	A	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74160693delA	uc002jqz.2	-						RNF157_uc002jra.2_Intron	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157								zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCTTTGATTaaaaaaaaaaa	0.224													4	2	---	---	---	---	
CBX4	8535	broad.mit.edu	37	17	77809591	77809592	+	Intron	INS	-	C	C			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77809591_77809592insC	uc002jxe.2	-							NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4						anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTCTGTGATGCCCCCCCCCCC	0.619											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2	---	---	---	---	
DLGAP1	9229	broad.mit.edu	37	18	3581662	3581663	+	Intron	INS	-	A	A			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3581662_3581663insA	uc002kmf.2	-						DLGAP1_uc010wyz.1_Intron|DLGAP1_uc002kme.1_Intron|DLGAP1_uc010dkn.2_Intron|DLGAP1_uc010wyw.1_Intron|DLGAP1_uc010wyx.1_Intron|DLGAP1_uc010wyy.1_Intron|DLGAP1_uc002kmg.2_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform						synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				TTCTCACCATGaaaaaaaaaaa	0.381													3	3	---	---	---	---	
ZNF519	162655	broad.mit.edu	37	18	14124370	14124371	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:14124370_14124371delAG	uc002kst.1	-	2	261_262	c.108_109delCT	c.(106-111)AACTACfs	p.N36fs	ZNF519_uc002ksq.1_RNA|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_RNA	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	36_37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGTTTCTGTAGTTCTCCAACA	0.401													76	33	---	---	---	---	
DOK6	220164	broad.mit.edu	37	18	67344791	67344791	+	Intron	DEL	A	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67344791delA	uc002lkl.2	+							NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6								insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATATAATGTCAAAGAGTAGGA	0.274													2	4	---	---	---	---	
RTTN	25914	broad.mit.edu	37	18	67715076	67715076	+	Intron	DEL	T	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67715076delT	uc002lkp.2	-						RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Intron|RTTN_uc010dqp.2_Intron	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin								binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TTTTGTATCATTTAAACAGTC	0.229													0	7	---	---	---	---	
LRRC8E	80131	broad.mit.edu	37	19	7965904	7965905	+	3'UTR	INS	-	G	G	rs147400269	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7965904_7965905insG	uc002mir.2	+	3					MAP2K7_uc002mis.1_5'Flank|MAP2K7_uc002miv.2_5'Flank|MAP2K7_uc010xka.1_5'Flank|MAP2K7_uc002mit.2_5'Flank|MAP2K7_uc010xkb.1_5'Flank|MAP2K7_uc010dvv.2_5'Flank	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member							integral to membrane				lung(1)|pancreas(1)	2						GGCCAGGAGATGGGGGGGGCGG	0.579													2	4	---	---	---	---	
CALR	811	broad.mit.edu	37	19	13050161	13050161	+	Intron	DEL	G	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13050161delG	uc002mvu.2	+							NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor						cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGAGGAAGTGGGGGAGTCTT	0.587											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	19	42107427	42107428	+	IGR	INS	-	CA	CA	rs71928647		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42107427_42107428insCA								CEACAM21 (14231 upstream) : CEACAM4 (17916 downstream)																							gcgcgcgcgcgcacacacacac	0.213													4	2	---	---	---	---	
MAVS	57506	broad.mit.edu	37	20	3835071	3835072	+	Intron	INS	-	AAAAAAAAAA	AAAAAAAAAA	rs143700590		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3835071_3835072insAAAAAAAAAA	uc002wjw.3	+						MAVS_uc002wjv.2_Intron|MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'Flank	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter						activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						gactcgctctcaaaaaaaaaaa	0.163													3	4	---	---	---	---	
DSCAM	1826	broad.mit.edu	37	21	41551110	41551111	+	Intron	DEL	CC	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41551110_41551111delCC	uc002yyq.1	-						DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAATTAAAAACCaaaaaaaaaa	0.302													4	3	---	---	---	---	
GYG2	8908	broad.mit.edu	37	X	2774786	2774793	+	Intron	DEL	TATCTATG	-	-	rs80318590		TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2774786_2774793delTATCTATG	uc004cqs.1	+						GYG2_uc004cqt.1_Intron|GYG2_uc004cqu.1_Intron|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Intron|GYG2_uc004cqx.1_Intron|GYG2_uc010ndc.1_Intron	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				atcatctatctatctatgtatctatcta	0.231													8	5	---	---	---	---	
HUWE1	10075	broad.mit.edu	37	X	53652847	53652852	+	Intron	DEL	GCCGGT	-	-	rs11091285	by1000genomes	TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53652847_53652852delGCCGGT	uc004dsp.2	-							NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						cggggccggggccggtgccgggactg	0.199													3	21	---	---	---	---	
ALAS2	212	broad.mit.edu	37	X	55040196	55040196	+	Intron	DEL	T	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55040196delT	uc004dua.3	-						ALAS2_uc004dub.3_Intron|ALAS2_uc004dud.3_Intron	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a						cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	TTGGGATAGATTTTTTTTTTC	0.269													4	3	---	---	---	---	
COL4A5	1287	broad.mit.edu	37	X	107821137	107821139	+	Intron	DEL	TTA	-	-			TCGA-21-5786-01	TCGA-21-5786-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107821137_107821139delTTA	uc004enz.1	+						COL4A5_uc011mso.1_Intron	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor						axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						taaaattaacttattaatataac	0.296									Alport_syndrome_with_Diffuse_Leiomyomatosis				2	5	---	---	---	---	
