Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BSDC1	55108	broad.mit.edu	37	1	32842101	32842101	+	Silent	SNP	G	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:32842101G>T	uc001bvh.3	-	9	965	c.918C>A	c.(916-918)TCC>TCA	p.S306S	BSDC1_uc010ohg.1_Silent_p.S323S|BSDC1_uc010ohh.1_Silent_p.S250S|BSDC1_uc010ohi.1_Silent_p.S211S|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Silent_p.S202S|BSDC1_uc001bvi.2_Silent_p.S323S	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	306							protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCAGCTTTTGGGACAGGTCCT	0.597													41	58					1.04594e-18	1.11807e-18	0.086207	1	0
OLFM3	118427	broad.mit.edu	37	1	102290602	102290602	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:102290602C>T	uc001duf.2	-	4	703	c.632G>A	c.(631-633)CGT>CAT	p.R211H	OLFM3_uc001dug.2_Missense_Mutation_p.R191H|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.R116H|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	211	Potential.					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)		CATGCAGTCACGAAGTCTTGT	0.373													7	40					0	0	0.038147	0	0
LOC642826	642826	broad.mit.edu	37	10	47207813	47207813	+	RNA	SNP	T	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:47207813T>C	uc001jei.2	-	12		c.1586A>G			uc009xnf.2_Missense_Mutation_p.H132R					Homo sapiens cDNA, FLJ99065.												0						TTTACTTACATGGTTTGTACA	0.294													3	21					0	0	0.004672	0	0
RPP30	10556	broad.mit.edu	37	10	92631801	92631801	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:92631801G>A	uc009xtx.2	+	1	93	c.58G>A	c.(58-60)GGA>AGA	p.G20R	RPP30_uc001khd.2_Missense_Mutation_p.G20R|RPP30_uc010qnj.1_Missense_Mutation_p.G20R	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	20					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0						GGCTCTGCGCGGACTTGTGGA	0.637													66	91					0	0	0.048971	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819517	89819517	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:89819517C>G	uc010rub.1	+	1	400	c.400C>G	c.(400-402)CTG>GTG	p.L134V		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	upstream binding transcription factor, RNA	134	HMG box 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding				0						GACCAAAATCCTGTCAAAGAA	0.443													7	15					0	0	0.069234	0	0
SPA17	53340	broad.mit.edu	37	11	124564278	124564278	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:124564278G>A	uc001qap.2	+	5	528	c.392G>A	c.(391-393)AGA>AAA	p.R131K		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	131	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CACATAGCCAGAGAGGAGGCA	0.408													15	92					0	0	0.028581	0	0
M6PR	4074	broad.mit.edu	37	12	9094479	9094479	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:9094479C>T	uc001qvf.2	-	7	939	c.769G>A	c.(769-771)GGT>AGT	p.G257S		NM_002355	NP_002346	P20645	MPRD_HUMAN	cation-dependent mannose-6-phosphate receptor	257	Cytoplasmic (Potential).				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity				0		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TCCCCCACACCACGATATGCT	0.468													53	404					0	0	0.048971	0	0
DDX12	440081	broad.mit.edu	37	12	9580280	9580280	+	Silent	SNP	A	G	G	rs146037854	by1000genomes	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:9580280A>G	uc010sgs.1	-	14	1626	c.1431T>C	c.(1429-1431)ACT>ACC	p.T477T		NM_004400	NP_004391			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12												0						AGTCGTTGATAGTCTTCAGCT	0.493													10	270					0	0	0.076483	0	0
PRB3	5544	broad.mit.edu	37	12	11420518	11420518	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420518G>A	uc001qzs.2	-	3	703	c.665C>T	c.(664-666)CCA>CTA	p.P222L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	222	9.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617													52	520					0	0	0.048971	0	0
PRB3	5544	broad.mit.edu	37	12	11420581	11420581	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420581G>A	uc001qzs.2	-	3	640	c.602C>T	c.(601-603)CCG>CTG	p.P201L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|8.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632													24	623					0	0	0.064281	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102595	13102595	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:13102595C>T	uc010shp.1	-	1	724	c.724G>A	c.(724-726)GTC>ATC	p.V242I		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	242	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCAATGCAGACGACCGGGTCG	0.567													15	74					0	0	0.020292	0	0
DNAH10	196385	broad.mit.edu	37	12	124332564	124332564	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:124332564C>T	uc001uft.3	+	32	5542	c.5517C>T	c.(5515-5517)ACC>ACT	p.T1839T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1839	AAA 1 (By similarity).|GPAGTGKT motif.|ATP (Potential).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGGCAAAACCGAGACCACCA	0.552													55	34					0	0	0.048971	0	0
COL4A2	1284	broad.mit.edu	37	13	111147702	111147702	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr13:111147702C>T	uc001vqx.2	+	40	3937	c.3648C>T	c.(3646-3648)CAC>CAT	p.H1216H		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1216	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGACATCCACGGAGACCCAG	0.557													11	96					0	0	0.093190	0	0
ADAM6	8755	broad.mit.edu	37	14	107259331	107259331	+	RNA	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr14:107259331C>T	uc010tyt.1	-	9		c.635G>A			uc001yta.1_Silent_p.V116V					Parts of antibodies, mostly variable regions.												0						TGGTCCCTCTCACACAATAAT	0.607													10	18					0	0	0.069234	0	0
C15orf2	23742	broad.mit.edu	37	15	24921762	24921762	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:24921762C>T	uc001ywo.2	+	1	1222	c.748C>T	c.(748-750)CGG>TGG	p.R250W		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	250					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)		CGGATGTGCCCGGCATCTTGG	0.622													11	53					0	0	0.093190	0	0
FGF7	2252	broad.mit.edu	37	15	49776652	49776652	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:49776652C>T	uc001zxn.2	+	4	1065	c.536C>T	c.(535-537)ACG>ATG	p.T179M	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.2_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	fibroblast growth factor 7 precursor	179					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity				0		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GGAAAAAAAACGAAGAAAGAA	0.373													6	17					0	0	0.029380	0	0
BNIP2	663	broad.mit.edu	37	15	59971949	59971949	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59971949C>T	uc010uhc.1	-	4	503	c.500G>A	c.(499-501)GGA>GAA	p.G167E	BNIP2_uc010uhb.1_Missense_Mutation_p.G108E	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 2	46					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			ovary(1)	1						CACTTTATTTCCATTAACTTC	0.368													4	25					0	0	0.009096	0	0
CCDC33	80125	broad.mit.edu	37	15	74554908	74554908	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:74554908C>T	uc002axo.2	+	3	707	c.313C>T	c.(313-315)CAA>TAA	p.Q105*		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	308	C2.						protein binding			ovary(3)|skin(2)	5						GGATGCAGGGCAAGAAGGTAA	0.597													4	12					0	0	0.009096	0	0
GPR139	124274	broad.mit.edu	37	16	20043246	20043246	+	Silent	SNP	C	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:20043246C>G	uc002dgu.1	-	2	1035	c.873G>C	c.(871-873)CGG>CGC	p.R291R	GPR139_uc010vaw.1_Silent_p.R198R	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						TGGTGCGGAACCGCTTGCTGA	0.502													21	120					0	0	0.055883	0	0
ZNF629	23361	broad.mit.edu	37	16	30795077	30795077	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:30795077G>A	uc002dzs.1	-	3	780	c.572C>T	c.(571-573)TCG>TTG	p.S191L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	191	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CACCAGGTGCGAGCTCTGCGT	0.657													4	35					0	0	0.009096	0	0
AMFR	267	broad.mit.edu	37	16	56442018	56442018	+	Missense_Mutation	SNP	G	A	A	rs147760918		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:56442018G>A	uc002eiy.2	-	4	729	c.524C>T	c.(523-525)TCG>TTG	p.S175L		NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	175					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						CGTGGTGGGCGAGAAGGAAAG	0.532													8	19					0	0	0.038147	0	0
Unknown	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:70268158A>C	uc010cfp.1	-	3		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333													3	14					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:7579311C>G	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			49	14					0	0	0.048971	0	0
HELZ	9931	broad.mit.edu	37	17	65105453	65105453	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:65105453T>C	uc010wqk.1	-	29	4458	c.4271A>G	c.(4270-4272)TAT>TGT	p.Y1424C	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Y1423C|HELZ_uc010der.2_Translation_Start_Site	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCCGCCTGATATGCAGGAGA	0.527													29	46					0	0	0.030593	0	0
SDK2	54549	broad.mit.edu	37	17	71375616	71375616	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:71375616G>A	uc010dfm.2	-	35	4835	c.4835C>T	c.(4834-4836)CCC>CTC	p.P1612L	SDK2_uc002jjt.3_Missense_Mutation_p.P752L|SDK2_uc010dfn.2_Missense_Mutation_p.P1291L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1612	Extracellular (Potential).|Fibronectin type-III 10.				cell adhesion	integral to membrane				ovary(2)	2						CTCCTGCGGGGGGCTGGAGGG	0.657													3	40					0	0	0.004672	0	0
TTYH2	94015	broad.mit.edu	37	17	72246149	72246149	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:72246149C>T	uc002jkc.2	+	9	1036	c.1005C>T	c.(1003-1005)CCC>CCT	p.P335P	TTYH2_uc010wqw.1_Silent_p.P314P|TTYH2_uc002jkd.2_Silent_p.P14P	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	335	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						TTGCCGTGCCCCTCTTCTCCA	0.652													35	53					0	0	0.069456	0	0
ACER1	125981	broad.mit.edu	37	19	6307219	6307219	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:6307219G>A	uc002mel.2	-	5	649	c.571C>T	c.(571-573)CGT>TGT	p.R191C		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	191	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0						CAAAGCAGACGGTCACTGATC	0.542													11	47					0	0	0.093190	0	0
GPR32	2854	broad.mit.edu	37	19	51273893	51273893	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:51273893T>A	uc010ycf.1	+	1	36	c.36T>A	c.(34-36)AGT>AGA	p.S12R		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	12	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGGCTGCAGTGACAGGCAAC	0.458													7	15					0	0	0.029380	0	0
LILRP2	79166	broad.mit.edu	37	19	55220779	55220779	+	RNA	SNP	C	T	T	rs28394351	by1000genomes	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:55220779C>T	uc002qgs.1	+	1		c.1179C>T			LILRP2_uc002qgt.1_Intron	NR_003061				Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.												0						TGATGTGGGACGCGTGAGCCC	0.602													5	8					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179613099	179613099	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:179613099A>C	uc002unb.2	-	46	14252	c.14028T>G	c.(14026-14028)ATT>ATG	p.I4676M	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	791							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)			GACTGGAAGAAATTTCTTGAC	0.333													21	105					0	0	0.062417	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma 								26	37					0	0	0.034045	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:25848606G>A	uc002wvd.1	-	1		c.181C>T								Homo sapiens cDNA FLJ30282 fis, clone BRACE2002803.												0						atcaccgtccgggcaggcctg	0													5	9					0	0	0.058154	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:29625941A>T	uc010ztl.1	+	2	127	c.95A>T	c.(94-96)GAT>GTT	p.D32V	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						GGGCATTCAGATGCAATTGGA	0.333													5	76					0	0	0.021553	0	0
PCIF1	63935	broad.mit.edu	37	20	44567656	44567656	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:44567656C>T	uc002xqs.2	+	3	332	c.18C>T	c.(16-18)CAC>CAT	p.H6H		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	6						nucleus				skin(1)	1						ATGAGAATCACGGCAGCCCCC	0.602													12	86					0	0	0.105934	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497965	39497965	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr22:39497965C>T	uc011aoh.1	+	4	527	c.461C>T	c.(460-462)CCG>CTG	p.P154L	APOBEC3H_uc011aoi.1_RNA|APOBEC3H_uc003axa.3_RNA	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	154					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537													26	9					0	0	0.030593	0	0
CNTN3	5067	broad.mit.edu	37	3	74419100	74419100	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:74419100G>C	uc003dpm.1	-	6	781	c.701C>G	c.(700-702)CCA>CGA	p.P234R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	234	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGAGTTTCTGGAAACTGAAC	0.333													12	59					0	0	0.105934	0	0
STX19	415117	broad.mit.edu	37	3	93733522	93733522	+	Silent	SNP	A	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:93733522A>G	uc003drh.1	-	2	849	c.592T>C	c.(592-594)TTA>CTA	p.L198L	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	198					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0						TCTGTAAGTAAGCTTTCATTA	0.328													11	66					0	0	0.069234	0	0
PLCH1	23007	broad.mit.edu	37	3	155198970	155198970	+	Silent	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:155198970G>A	uc011bok.1	-	23	5146	c.4869C>T	c.(4867-4869)ACC>ACT	p.T1623T	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.T1585T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1623					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCACTGCAGGGGTGGGTGCTG	0.577													10	62					0	0	0.058154	0	0
ZBBX	79740	broad.mit.edu	37	3	166960403	166960403	+	Silent	SNP	G	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:166960403G>T	uc003fep.2	-	20	2489	c.2166C>A	c.(2164-2166)ACC>ACA	p.T722T	ZBBX_uc011bpc.1_Silent_p.T761T|ZBBX_uc003feq.2_Silent_p.T693T	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	722						intracellular	zinc ion binding			ovary(2)	2						ACTCTTCTGAGGTTAAGCTGT	0.368													7	19					5.4927e-09	5.77199e-09	0.047766	1	0
ZNF595	152687	broad.mit.edu	37	4	59959	59959	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:59959A>G	uc003fzv.1	+	3	295	c.139A>G	c.(139-141)ATC>GTC	p.I47V	ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.I47V|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	47					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGGTTTTGTGATCTCTAACCC	0.393													6	87					0	0	0.021553	0	0
CXXC4	80319	broad.mit.edu	37	4	105412082	105412082	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:105412082C>T	uc003hxg.2	-	1	386	c.371G>A	c.(370-372)GGG>GAG	p.G124E	uc003hxh.1_5'Flank|CXXC4_uc010ilo.2_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	CXXC finger 4	124					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCCAGCTCCCCCTGAGGAGGA	0.602													13	60					0	0	0.093190	0	0
SKP2	6502	broad.mit.edu	37	5	36152899	36152899	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:36152899T>A	uc003jkc.1	+	2	217	c.35T>A	c.(34-36)CTG>CAG	p.L12Q	SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Missense_Mutation_p.L12Q|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCCAGACCTGAGTAGCAAC	0.517													15	43					0	0	0.038395	0	0
GABRA6	2559	broad.mit.edu	37	5	161118969	161118969	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:161118969G>A	uc003lyu.2	+	8	1187	c.849G>A	c.(847-849)ATG>ATA	p.M283I	GABRA6_uc003lyv.2_Missense_Mutation_p.M54I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	283	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTAACTATGACCACTTTGA	0.403										TCGA Ovarian(5;0.080)			10	74					0	0	0.058154	0	0
LOC442308	442308	broad.mit.edu	37	7	55714188	55714188	+	RNA	SNP	T	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:55714188T>C	uc010kzj.2	+	1		c.877T>C				NR_003598				Homo sapiens similar to tubulin, beta 5 (LOC442308), non-coding RNA.												0						ACCCAGCAGGTCTTCGATGCC	0.547													8	29					0	0	0.038147	0	0
ZP3	7784	broad.mit.edu	37	7	76054391	76054391	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:76054391C>T	uc003ufd.3	+	1	120	c.110C>T	c.(109-111)ACG>ATG	p.T37M	ZP3_uc003ufc.3_Translation_Start_Site	NM_001110354	NP_001103824	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 isoform 1	37	Extracellular (Potential).				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding				0						CATCCTGAGACGTCCGTACAG	0.587													6	14					0	0	0.021553	0	0
DLX5	1749	broad.mit.edu	37	7	96651603	96651603	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:96651603G>C	uc003uon.2	-	2	642	c.434C>G	c.(433-435)TCC>TGC	p.S145C	DLX5_uc011kim.1_Missense_Mutation_p.S145C	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	145	Homeobox.				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTGAAAGCTGGAATAAATAGT	0.498													46	72					0	0	0.045515	0	0
MUC17	140453	broad.mit.edu	37	7	100679309	100679309	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:100679309C>G	uc003uxp.1	+	3	4665	c.4612C>G	c.(4612-4614)CCT>GCT	p.P1538A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1538	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTCCTGCTGTCAC	0.473													46	250					0	0	0.045515	0	0
PAX4	5078	broad.mit.edu	37	7	127255046	127255046	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:127255046G>C	uc010lld.1	-	2	430	c.224C>G	c.(223-225)CCT>CGT	p.P75R	PAX4_uc003vmf.2_Missense_Mutation_p.P73R|PAX4_uc003vmg.1_Missense_Mutation_p.P75R|PAX4_uc003vmh.2_Missense_Mutation_p.P73R	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	83	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGCCACCACAGGGGGTGTAGC	0.582													45	60					0	0	0.048971	0	0
KEL	3792	broad.mit.edu	37	7	142655011	142655011	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:142655011C>T	uc003wcb.2	-	6	785	c.575G>A	c.(574-576)CGA>CAA	p.R192Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	192	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					TCTCAGCGTTCGGTTAAAGTT	0.522													16	40					0	0	0.024245	0	0
COL14A1	7373	broad.mit.edu	37	8	121290392	121290392	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr8:121290392A>T	uc003yox.2	+	27	3521	c.3256A>T	c.(3256-3258)AAA>TAA	p.K1086*	COL14A1_uc003yoz.2_Nonsense_Mutation_p.K51*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1086	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGAATTTAAACTAAATGC	0.378													52	59					0	0	0.048971	0	0
BICD2	23299	broad.mit.edu	37	9	95481306	95481306	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:95481306C>T	uc004aso.1	-	5	1678	c.1621G>A	c.(1621-1623)GTG>ATG	p.V541M	BICD2_uc004asp.1_Missense_Mutation_p.V541M	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	541					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CACATGCACACGTGGTGGTAG	0.657													18	61					0	0	0.069288	0	0
DBH	1621	broad.mit.edu	37	9	136501814	136501814	+	Silent	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:136501814G>A	uc004cel.2	+	1	330	c.321G>A	c.(319-321)GGG>GGA	p.G107G		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	107	DOMON.|Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGACCGATGGGGACACTGCCT	0.617													5	23					0	0	0.029380	0	0
ATRX	546	broad.mit.edu	37	X	76814313	76814313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:76814313G>A	uc004ecp.3	-	29	6563	c.6331C>T	c.(6331-6333)CGA>TGA	p.R2111*	ATRX_uc004ecq.3_Nonsense_Mutation_p.R2073*|ATRX_uc004eco.3_Nonsense_Mutation_p.R1896*	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2111	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATAAATAATCGTCCTCTGAAA	0.274			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						15	6					0	0	0.020292	0	0
COL4A5	1287	broad.mit.edu	37	X	107938508	107938508	+	Silent	SNP	A	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:107938508A>T	uc004enz.1	+	51	5035	c.4833A>T	c.(4831-4833)GCA>GCT	p.A1611A	COL4A5_uc011mso.1_Silent_p.A1608A|COL4A5_uc011msp.1_Silent_p.A287A	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1605	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ATACAAGTGCAGGGGCAGAAG	0.488									Alport_syndrome_with_Diffuse_Leiomyomatosis				19	50					0	0	0.049695	0	0
METAP2	10988	broad.mit.edu	37	12	95868076	95868078	+	In_Frame_Del	DEL	AAG	-	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:95868076_95868078delAAG	uc001tec.2	+	1	255_257	c.121_123delAAG	c.(121-123)AAGdel	p.K44del	METAP2_uc010suv.1_In_Frame_Del_p.K44del|METAP2_uc009ztd.2_In_Frame_Del_p.K44del|METAP2_uc001ted.2_In_Frame_Del_p.K44del|METAP2_uc001tef.2_In_Frame_Del_p.K44del|METAP2_uc001tee.2_RNA	NM_006838	NP_006829	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	44	Arg/Lys-rich (basic).				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0					L-Methionine(DB00134)	AAAAAGACGAAAGAAGAAGAAGA	0.557													11	45	---	---	---	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59182564_59182565delCT	uc002afp.2	-	15	2082_2083	c.1994_1995delAG	c.(1993-1995)GAGfs	p.E665fs	SLTM_uc002afn.2_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.2_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.2_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.E234fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	665	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTTCTAGGCGCTCTCTCTCTCT	0.475													7	99	---	---	---	---					
ROS1	6098	broad.mit.edu	37	6	117746774	117746774	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr6:117746774delT	uc003pxp.1	-	1	245	c.46delA	c.(46-48)ACTfs	p.T16fs	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	16					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGCCAAGAGTTGCAAAATTG	0.378			T	GOPC|ROS1	glioblastoma|NSCLC								60	91	---	---	---	---					
