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
ARHGEF10L	55160	broad.mit.edu	37	1	17961457	17961457	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:17961457G>C	uc001ban.2	+	18	2032	c.1873G>C	c.(1873-1875)GTG>CTG	p.V625L	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V586L|ARHGEF10L_uc001bao.2_Missense_Mutation_p.V586L|ARHGEF10L_uc001bap.2_Missense_Mutation_p.V581L|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.V383L|ARHGEF10L_uc001baq.2_Missense_Mutation_p.V386L|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.V398L|ARHGEF10L_uc001bar.2_Missense_Mutation_p.V328L|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	625					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAAGGACAATGTGCTCATCCA	0.642													3	43					0	0	0.00024832	0	0
S1PR1	1901	broad.mit.edu	37	1	101705575	101705575	+	Silent	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:101705575C>T	uc001dud.2	+	2	1549	c.1035C>T	c.(1033-1035)ATC>ATT	p.I345I	S1PR1_uc009weg.2_Silent_p.I345I	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	345	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						GACCCATCATCGCCGGCATGG	0.557													7	154					0	0	0.00198382	0	0
USH2A	7399	broad.mit.edu	37	1	215914869	215914869	+	Silent	SNP	T	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:215914869T>C	uc001hku.1	-	60	11946	c.11559A>G	c.(11557-11559)GGA>GGG	p.G3853G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3853	Fibronectin type-III 23.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTGCTAACTCCACAACTTC	0.358										HNSCC(13;0.011)			7	63					0	0	0.000442599	0	0
OR2M5	127059	broad.mit.edu	37	1	248308952	248308952	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248308952A>G	uc010pze.1	+	1	503	c.503A>G	c.(502-504)TAC>TGC	p.Y168C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCCTTCTCCTACTGTGGGTCT	0.443													12	318					0	0	0.00185496	0	0
OR2M7	391196	broad.mit.edu	37	1	248487368	248487368	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248487368T>C	uc010pzk.1	-	1	503	c.503A>G	c.(502-504)TAC>TGC	p.Y168C		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	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)			AGACCCACAGTAGGAGAAGGA	0.448													108	174					0	0	0.000781405	0	0
KIAA1274	27143	broad.mit.edu	37	10	72307126	72307126	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr10:72307126C>T	uc001jrd.3	+	18	2467	c.2186C>T	c.(2185-2187)GCG>GTG	p.A729V	KIAA1274_uc001jre.3_Missense_Mutation_p.A20V	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	729										ovary(2)|central_nervous_system(1)	3						GTGGACGCAGCGCTGGACACT	0.542													29	53					0	0	0.00127121	0	0
NELL1	4745	broad.mit.edu	37	11	21135210	21135210	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:21135210G>A	uc001mqe.2	+	13	1529	c.1376G>A	c.(1375-1377)CGC>CAC	p.R459H	NELL1_uc001mqf.2_Missense_Mutation_p.R459H|NELL1_uc009yid.2_Missense_Mutation_p.R487H|NELL1_uc010rdo.1_Missense_Mutation_p.R402H|NELL1_uc010rdp.1_Missense_Mutation_p.R219H	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	459	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GGGTTATATCGCTGTGACTGT	0.398													6	99					0	0	0.00116845	0	0
OR4A15	81328	broad.mit.edu	37	11	55136122	55136122	+	Missense_Mutation	SNP	A	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55136122A>T	uc010rif.1	+	1	763	c.763A>T	c.(763-765)ACT>TCT	p.T255S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	255	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTCTCTTAAGACTCAGAGTTT	0.438													62	74					0	0	0.000781405	0	0
OR5D16	390144	broad.mit.edu	37	11	55606760	55606760	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55606760A>G	uc010rio.1	+	1	533	c.533A>G	c.(532-534)CAT>CGT	p.H178R		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				ACAATCAATCATTTCTTCTGT	0.423													5	52					0	0	0.000602214	0	0
NPAS4	266743	broad.mit.edu	37	11	66192121	66192121	+	Missense_Mutation	SNP	C	T	T	rs142965018	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:66192121C>T	uc001ohx.1	+	7	1936	c.1760C>T	c.(1759-1761)ACG>ATG	p.T587M	NPAS4_uc010rpc.1_Missense_Mutation_p.T377M	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	587					transcription, DNA-dependent		DNA binding|signal transducer activity				0						GGGGACTGCACGCTCTTGGCC	0.607													15	173					0	0	0.000308642	0	0
MMP1	4312	broad.mit.edu	37	11	102666337	102666337	+	Silent	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:102666337C>T	uc001phi.2	-	5	770	c.627G>A	c.(625-627)GAG>GAA	p.E209E	uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.E143E	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	209	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTAAGTTGTACTCTAAAAAGG	0.368													11	29					0	0	0.000673444	0	0
ZNF259	8882	broad.mit.edu	37	11	116656309	116656309	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:116656309T>C	uc001ppp.2	-	6	659	c.626A>G	c.(625-627)CAT>CGT	p.H209R	ZNF259_uc009yzd.2_Missense_Mutation_p.H209R|ZNF259_uc001ppq.2_Missense_Mutation_p.H155R	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	209					cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTGAGGAGCATGTGGGTTTTC	0.458													6	97					0	0	0.00116845	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716801	13716801	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:13716801C>T	uc001rbt.2	-	13	3550	c.3371G>A	c.(3370-3372)AGG>AAG	p.R1124K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1124	Cytoplasmic (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)	TTCCTTGTCCCTGAAGTAGCG	0.617													20	25					0	0	0.00152264	0	0
KRT84	3890	broad.mit.edu	37	12	52777394	52777394	+	Silent	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:52777394G>A	uc001sah.1	-	2	783	c.735C>T	c.(733-735)GTC>GTT	p.V245V		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	245	Rod.|Coil 1B.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCTCTAGGACATCCTGCA	0.577													15	17					0	0	0.00074312	0	0
ACAD10	80724	broad.mit.edu	37	12	112193513	112193513	+	Silent	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:112193513G>A	uc001tsq.2	+	20	3203	c.3003G>A	c.(3001-3003)CCG>CCA	p.P1001P	ACAD10_uc009zvx.2_Silent_p.P1032P|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	1001							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TGGTCGCCCCGTCCATGGCCT	0.517													16	112					0	0	0.00074312	0	0
LOC284232	284232	broad.mit.edu	37	13	19409503	19409503	+	RNA	SNP	T	C	C	rs141688139		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:19409503T>C	uc010tcj.1	-	1		c.36607A>G				NR_027995				Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.												0						AAATATTTATTTTCCTTGATA	0.264													3	26					0	0	6.4e-05	0	0
LOC284232	284232	broad.mit.edu	37	13	19409845	19409845	+	RNA	SNP	A	G	G	rs4037526	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:19409845A>G	uc010tcj.1	-	1		c.36265T>C				NR_027995				Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.												0						GGCTTAGGTCATTTTGTACAG	0.323													4	102					0	0	0.00024832	0	0
FRY	10129	broad.mit.edu	37	13	32852686	32852686	+	Splice_Site	SNP	G	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:32852686G>C	uc001utx.2	+	58	8965	c.8469_splice	c.e58+1	p.K2823_splice	FRY_uc010tdw.1_Splice_Site|FRY_uc001uty.2_Missense_Mutation_p.V379L|FRY_uc001utz.2_Splice_Site_p.K348_splice|FRY_uc010tdx.1_Splice_Site_p.K193_splice	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog						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)		CGAAGAAAAGGTAATAAAAGC	0.443													16	95					0	0	0.000566183	0	0
GPX2	2877	broad.mit.edu	37	14	65406296	65406296	+	Silent	SNP	C	T	T	rs17885748		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr14:65406296C>T	uc010tsn.1	-	3	570	c.483G>A	c.(481-483)CCG>CCA	p.P161P	CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA	NM_002083	NP_002074	P18283	GPX2_HUMAN	glutathione peroxidase 2	161					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			ovary(1)	1				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCTCTCCCTCCGGCCCTATGA	0.537													22	103					0	0	0.00229938	0	0
RAB27A	5873	broad.mit.edu	37	15	55497820	55497820	+	Missense_Mutation	SNP	C	T	T	rs141362723	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:55497820C>T	uc002aco.2	-	7	784	c.551G>A	c.(550-552)CGA>CAA	p.R184Q	RAB27A_uc002acr.2_Missense_Mutation_p.R184Q|RAB27A_uc002acp.2_Missense_Mutation_p.R184Q|RAB27A_uc002acq.2_Missense_Mutation_p.R184Q	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	184					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCGTTCCATTCGCTTCATTAT	0.463													63	77					0	0	0.000781405	0	0
HSDL1	83693	broad.mit.edu	37	16	84163854	84163854	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:84163854G>A	uc002fhk.2	-	4	587	c.403C>T	c.(403-405)CCA>TCA	p.P135S	HSDL1_uc010vnv.1_Intron	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	135						mitochondrion	oxidoreductase activity|protein binding				0						TCTCGAATTGGAAGGTAGATC	0.473													16	141					0	0	0.000422831	0	0
APRT	353	broad.mit.edu	37	16	88876924	88876924	+	Silent	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:88876924G>A	uc002flv.2	-	3	263	c.228C>T	c.(226-228)GCC>GCT	p.A76A	APRT_uc002flw.2_Silent_p.A76A	NM_000485	NP_000476	P07741	APT_HUMAN	adenine phosphoribosyltransferase isoform a	76					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAAGCTCCTGGGCCAGGGAGG	0.637													3	22					0	0	6.4e-05	0	0
PHF23	79142	broad.mit.edu	37	17	7139547	7139547	+	Silent	SNP	T	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7139547T>C	uc002gfa.2	-	4	926	c.699A>G	c.(697-699)CCA>CCG	p.P233P	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Silent_p.P166P|PHF23_uc010cma.2_Silent_p.P103P	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	233							zinc ion binding				0						GCCCAGGAGGTGGGAGTCTAT	0.453													39	76					0	0	0.0025221	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	T	T	rs28934576	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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)			27	3					0	0	0.00127121	0	0
MYO18A	399687	broad.mit.edu	37	17	27430667	27430667	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:27430667G>C	uc002hdt.1	-	21	3615	c.3457C>G	c.(3457-3459)CTG>GTG	p.L1153V	MYO18A_uc010wbc.1_Missense_Mutation_p.L695V|MYO18A_uc002hds.2_Missense_Mutation_p.L695V|MYO18A_uc010csa.1_Missense_Mutation_p.L1153V|MYO18A_uc002hdu.1_Missense_Mutation_p.L1153V|MYO18A_uc010wbd.1_Missense_Mutation_p.L822V	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1153	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGCACTCCAGCAGCTCCTCC	0.667													3	44					0	0	6.4e-05	0	0
KIF2B	84643	broad.mit.edu	37	17	51900882	51900882	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:51900882G>A	uc002iua.2	+	1	644	c.488G>A	c.(487-489)CGC>CAC	p.R163H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163	Potential.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CGGGAAAAGCGCAGGCGGCTG	0.547													8	85					0	0	0.000442599	0	0
ELMOD3	84173	broad.mit.edu	37	2	85617291	85617291	+	Silent	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:85617291C>T	uc002spf.3	+	14	1511	c.846C>T	c.(844-846)CCC>CCT	p.P282P	ELMOD3_uc002spg.3_Silent_p.P282P|ELMOD3_uc002sph.3_Silent_p.P282P|ELMOD3_uc010ysn.1_Silent_p.P282P|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	282	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2						AGGTCATCCCCGTGGTGAACA	0.567													23	40					0	0	0.000720815	0	0
GPR39	2863	broad.mit.edu	37	2	133175296	133175296	+	Silent	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:133175296C>T	uc002ttl.2	+	1	1150	c.681C>T	c.(679-681)GCC>GCT	p.A227A		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	227	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						TCTTCGGCGCCTTCGTGGTCT	0.612													30	46					0	0	0.001512	0	0
TANK	10010	broad.mit.edu	37	2	162087893	162087893	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:162087893C>T	uc002ubr.1	+	7	1090	c.932C>T	c.(931-933)CCC>CTC	p.P311L	TANK_uc002ubs.2_Missense_Mutation_p.P311L	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	311						cytosol	metal ion binding|protein binding			ovary(1)	1						AAAACAAAGCCCTCAAATCTC	0.383													9	106					0	0	0.000673444	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	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 								19	53					0	0	0.00229938	0	0
CCDC108	255101	broad.mit.edu	37	2	219868814	219868814	+	Silent	SNP	C	T	T	rs73089095	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:219868814C>T	uc002vjl.1	-	33	5499	c.5415G>A	c.(5413-5415)AAG>AAA	p.K1805K	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1805	Glu-rich.					integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTctcttccttctcatccc	0.279													5	121					0	0	0.000602214	0	0
C21orf99	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	A	A	rs112098339		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr21:14439185C>A	uc002yja.3	+	10		c.2703C>A				NR_026916				Homo sapiens C21orf99 protein (C21orf99) mRNA, complete cds.												0						TGACTTTAAACCAAGAAGAAG	0.269													8	10					1.06961e-07	3.73488e-07	0.000157383	1	0
C21orf99	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr21:14439208A>G	uc002yja.3	+	10		c.2726A>G				NR_026916				Homo sapiens C21orf99 protein (C21orf99) mRNA, complete cds.												0						AAGAGAAGAAATGCCAATATA	0.299													7	10					0	0	0.00198382	0	0
Unknown	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	G	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr22:18844888A>G	uc002zoe.2	+	4		c.2142A>G			uc002zof.2_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587													4	86					0	0	0.000602214	0	0
SLC6A11	6538	broad.mit.edu	37	3	10885932	10885932	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:10885932G>C	uc003bvz.2	+	5	691	c.657G>C	c.(655-657)GAG>GAC	p.E219D		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	219	Extracellular (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACGGGATCGAGCACATCGGGA	0.587													3	41					0	0	0.00024832	0	0
MAN2B2	23324	broad.mit.edu	37	4	6612960	6612960	+	Silent	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:6612960C>T	uc003gjf.1	+	15	2554	c.2518C>T	c.(2518-2520)CTG>TTG	p.L840L	MAN2B2_uc003gje.1_Silent_p.L840L|MAN2B2_uc011bwf.1_Silent_p.L789L	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	840					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						GAGGAGCGCACTGGCGCTGCA	0.627													15	21					0	0	0.000308642	0	0
SLIT2	9353	broad.mit.edu	37	4	20598163	20598163	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:20598163C>T	uc003gpr.1	+	32	3650	c.3446C>T	c.(3445-3447)CCT>CTT	p.P1149L	SLIT2_uc003gps.1_Missense_Mutation_p.P1141L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1149	EGF-like 6.				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						CAGTGTTTGCCTGGCTATCAG	0.433													4	66					0	0	0.00024832	0	0
COL25A1	84570	broad.mit.edu	37	4	109805344	109805344	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:109805344G>A	uc003hze.1	-	18	1541	c.1010C>T	c.(1009-1011)CCG>CTG	p.P337L	COL25A1_uc003hzg.2_Missense_Mutation_p.P337L|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.P118L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	337	Extracellular (Potential).|Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTATCCCCGGAAGTCCAGG	0.413													21	43					0	0	0.00278032	0	0
KLKB1	3818	broad.mit.edu	37	4	187158067	187158067	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:187158067C>T	uc003iyy.2	+	5	532	c.461C>T	c.(460-462)ACG>ATG	p.T154M	KLKB1_uc011clc.1_Translation_Start_Site|KLKB1_uc011cld.1_Missense_Mutation_p.T116M	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	154	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCATATGCCACGCAAACATTT	0.408													5	58					0	0	0.00198382	0	0
SCAND3	114821	broad.mit.edu	37	6	28540794	28540794	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:28540794A>G	uc003nlo.2	-	4	3490	c.2872T>C	c.(2872-2874)TGT>CGT	p.C958R		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	958					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						tccaaaccacatttgttaaca	0													9	45					0	0	0.000274275	0	0
C6orf138	442213	broad.mit.edu	37	6	47976601	47976601	+	Missense_Mutation	SNP	A	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:47976601A>T	uc011dwm.1	-	2	710	c.625T>A	c.(625-627)TTT>ATT	p.F209I	C6orf138_uc011dwn.1_5'UTR|C6orf138_uc003ozf.2_Missense_Mutation_p.F226I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	226						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GTCTTATGAAAGTCCCTCCAG	0.527													18	35					0	0	0.00074312	0	0
KIAA1009	22832	broad.mit.edu	37	6	84896105	84896105	+	Missense_Mutation	SNP	C	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896105C>A	uc010kbp.2	-	12	1443	c.1346G>T	c.(1345-1347)AGG>ATG	p.R449M	KIAA1009_uc003pkj.3_Missense_Mutation_p.R373M|KIAA1009_uc003pkk.2_Missense_Mutation_p.R449M|KIAA1009_uc003pki.3_Translation_Start_Site	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	449					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TATTTTTTTCCTCAAAATATT	0.308													24	56					9.95505e-16	3.65591e-15	0.00229938	1	0
GTPBP10	85865	broad.mit.edu	37	7	89982254	89982254	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:89982254T>C	uc003ukm.1	+	2	224	c.158T>C	c.(157-159)ATG>ACG	p.M53T	GTPBP10_uc003uki.1_Missense_Mutation_p.M70T|GTPBP10_uc003ukj.1_Missense_Mutation_p.M44T|GTPBP10_uc003ukk.1_RNA|GTPBP10_uc003ukl.1_RNA|GTPBP10_uc003ukn.1_Missense_Mutation_p.M53T|GTPBP10_uc003uko.1_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	53					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0						CAGAACAGAATGACTTTAAAA	0.443													4	56					0	0	0.000602214	0	0
CDK14	5218	broad.mit.edu	37	7	90613505	90613505	+	Silent	SNP	T	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:90613505T>A	uc003uky.2	+	10	1212	c.990T>A	c.(988-990)GCT>GCA	p.A330A	CDK14_uc003ukz.1_Silent_p.A312A|CDK14_uc010les.1_Silent_p.A284A|CDK14_uc011khl.1_Silent_p.A201A	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	330	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						AAGGAGTTGCTGCTTTTCCAG	0.348													38	100					0	0	0.00148497	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280314	100280314	+	Silent	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:100280314G>A	uc003uwg.1	-	20	3508	c.2499C>T	c.(2497-2499)GGC>GGT	p.G833G		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	833										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCT	0.697													5	16					0	0	0.00198382	0	0
Unknown	0	broad.mit.edu	37	8	26237249	26237249	+	RNA	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:26237249G>A	uc003xew.2	-	2		c.2700C>T								Homo sapiens cDNA clone IMAGE:4826633.																		GGGATTTCCCGGGGACAGCGT	0.458													6	43					0	0	0.00116845	0	0
XKR9	389668	broad.mit.edu	37	8	71646066	71646066	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:71646066T>C	uc003xyq.2	+	5	1063	c.529T>C	c.(529-531)TGG>CGG	p.W177R	XKR9_uc010lze.2_Missense_Mutation_p.W177R|XKR9_uc010lzd.2_Missense_Mutation_p.W45R	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	177	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTATTTCTTGGTCAACTGT	0.299													5	47					0	0	0.00116845	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026829	93026829	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:93026829C>T	uc003yfd.2	-	3	530	c.446G>A	c.(445-447)CGC>CAC	p.R149H	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R122H|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R112H|RUNX1T1_uc010mao.2_Missense_Mutation_p.R122H|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R160H|RUNX1T1_uc003yfh.1_Missense_Mutation_p.R112H|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R112H|RUNX1T1_uc003yff.1_Missense_Mutation_p.R112H|RUNX1T1_uc003yfg.1_Missense_Mutation_p.R112H	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	149	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACGAGGGTGCGAACTCTTTC	0.507													12	83					0	0	0.00136819	0	0
CDH17	1015	broad.mit.edu	37	8	95182644	95182644	+	Silent	SNP	G	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:95182644G>A	uc003ygh.2	-	9	1172	c.1047C>T	c.(1045-1047)GTC>GTT	p.V349V	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.V349V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	349	Extracellular (Potential).|Cadherin 4.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTCTCCTGGACCTCAAATA	0.438													60	86					0	0	0.000781405	0	0
FAM78A	286336	broad.mit.edu	37	9	134136482	134136482	+	Silent	SNP	C	T	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:134136482C>T	uc004cak.2	-	2	919	c.579G>A	c.(577-579)CTG>CTA	p.L193L	FAM78A_uc004caj.2_Silent_p.L190L	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	193										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGTGGCCACCAGCCAGGTGG	0.617													27	44					0	0	0.00127121	0	0
FRMD7	90167	broad.mit.edu	37	X	131214037	131214037	+	Silent	SNP	T	C	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:131214037T>C	uc004ewn.2	-	11	1225	c.1047A>G	c.(1045-1047)AAA>AAG	p.K349K	FRMD7_uc011muy.1_Silent_p.K334K	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	349					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ACCTTACTTGTTTTGACACAT	0.348													78	27					0	0	0.000781405	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22930744	22930744	+	Missense_Mutation	SNP	C	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrY:22930744C>A	uc011nbb.1	+	5	510	c.414C>A	c.(412-414)CAC>CAA	p.H138Q		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	138					translation	ribosome	rRNA binding|structural constituent of ribosome				0						GAATTCCACACCTGGTGACTC	0.438													22	25					2.89027e-11	1.02605e-10	0.00229938	1	0
ARID1A	8289	broad.mit.edu	37	1	27057848	27057848	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:27057848delC	uc001bmv.1	+	3	1929	c.1556delC	c.(1555-1557)TCCfs	p.S519fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.S519fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S519fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S136fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	519					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCCATACTCCCAGCAGCCA	0.632			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								25	245	---	---	---	---					
ASPM	259266	broad.mit.edu	37	1	197070598	197070599	+	Frame_Shift_Del	DEL	TC	-	-	rs144088344	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:197070598_197070599delTC	uc001gtu.2	-	18	8039_8040	c.7782_7783delGA	c.(7780-7785)CAGAAAfs	p.Q2594fs	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Frame_Shift_Del_p.Q442fs	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2594_2595					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TGAAATACTTTCTGTTTCTTTT	0.356													12	33	---	---	---	---					
BTBD1	53339	broad.mit.edu	37	15	83718894	83718895	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:83718894_83718895delAA	uc002bjn.2	-	3	797_798	c.594_595delTT	c.(592-597)CTTTGTfs	p.L198fs	BTBD1_uc002bjo.2_Frame_Shift_Del_p.L198fs	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	198_199						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		GTATCTAGACAAAGACTAGCAA	0.312													9	51	---	---	---	---					
LRRC37A4	55073	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	G	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:43591984_43591985insG	uc002ije.2	-	1		c.538_539insC								Homo sapiens cDNA FLJ34414 fis, clone HEART2003168, highly similar to Homo sapiens c114 SLIT-like testicular protein (LOC474170), mRNA.												0						GTGGGTCATGCGGAGCGAGTTT	0.411													9	71	---	---	---	---					
AKAP8	10270	broad.mit.edu	37	19	15471767	15471769	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:15471767_15471769delGAA	uc002nav.2	-	12	1478_1480	c.1417_1419delTTC	c.(1417-1419)TTCdel	p.F473del	AKAP8_uc010dzy.2_In_Frame_Del_p.F22del|AKAP8_uc010dzz.1_RNA	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	473					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						CGATCTTCTTGAAGAAGTGCTCC	0.571													10	21	---	---	---	---					
LENG9	94059	broad.mit.edu	37	19	54973460	54973461	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:54973460_54973461delTG	uc010yez.1	-	1	1434_1435	c.1315_1316delCA	c.(1315-1317)CAGfs	p.Q439fs		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	439					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCTGGAGACTGTAGTGTACTC	0.644													44	54	---	---	---	---					
EPB41L1	2036	broad.mit.edu	37	20	34761743	34761745	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr20:34761743_34761745delAGG	uc002xfb.2	+	2	215_217	c.44_46delAGG	c.(43-48)CAGGAG>CAG	p.E17del	EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_In_Frame_Del_p.E17del|EPB41L1_uc002xev.2_In_Frame_Del_p.E17del|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_In_Frame_Del_p.E17del|EPB41L1_uc002xez.2_Intron	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	17					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					AAGAAAGCTCAGGAGGAGGCCCC	0.626													7	38	---	---	---	---					
AMOTL2	51421	broad.mit.edu	37	3	134078153	134078155	+	In_Frame_Del	DEL	TGT	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:134078153_134078155delTGT	uc003eqf.2	-	8	2365_2367	c.2248_2250delACA	c.(2248-2250)ACAdel	p.T750del	AMOTL2_uc003eqg.1_In_Frame_Del_p.T692del|AMOTL2_uc003eqh.1_In_Frame_Del_p.T690del|AMOTL2_uc010htx.1_5'Flank|AMOTL2_uc003eqe.1_In_Frame_Del_p.T317del	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	692										large_intestine(1)	1						GGGCGTCTGCTGTTTGTCGCTCA	0.596													21	67	---	---	---	---					
TNIP1	10318	broad.mit.edu	37	5	150425452	150425454	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr5:150425452_150425454delCTT	uc003ltf.2	-	9	1493_1495	c.904_906delAAG	c.(904-906)AAGdel	p.K302del	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_In_Frame_Del_p.K302del|TNIP1_uc010jhn.2_In_Frame_Del_p.K302del|TNIP1_uc011dco.1_In_Frame_Del_p.K302del|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_In_Frame_Del_p.K302del|TNIP1_uc003ltg.2_In_Frame_Del_p.K249del|TNIP1_uc003ltj.2_In_Frame_Del_p.K302del|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_In_Frame_Del_p.K249del|TNIP1_uc010jhp.1_In_Frame_Del_p.K249del|TNIP1_uc010jhr.1_In_Frame_Del_p.K302del|TNIP1_uc003ltk.2_In_Frame_Del_p.K302del	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	302	Potential.|Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCTTCACCTTCTTCTCGGCT	0.601													14	96	---	---	---	---					
HCG27	253018	broad.mit.edu	37	6	31170639	31170640	+	RNA	DEL	CT	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:31170639_31170640delCT	uc011dni.1	+	2		c.614_615delCT				NR_026791				Homo sapiens cDNA FLJ40123 fis, clone TESTI2010280.												0						AGGCTCTGGCCTCTCTCTCTCC	0.540													25	69	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84896099	84896100	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896099_84896100insA	uc010kbp.2	-	12	1448_1449	c.1351_1352insT	c.(1351-1353)AAAfs	p.K451fs	KIAA1009_uc003pkj.3_Frame_Shift_Ins_p.K375fs|KIAA1009_uc003pkk.2_Frame_Shift_Ins_p.K451fs|KIAA1009_uc003pki.3_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	451					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AACAGTTATTTTTTTCCTCAAA	0.307													19	54	---	---	---	---					
CYP3A7	1551	broad.mit.edu	37	7	99312223	99312224	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:99312223_99312224delTT	uc003uru.2	-	8	857_858	c.752_753delAA	c.(751-753)AAAfs	p.K251fs	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	251					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTTTTACAGATTTTGTTAGAAA	0.312													19	90	---	---	---	---					
FAM82B	51115	broad.mit.edu	37	8	87498754	87498755	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:87498754_87498755delTT	uc003ydu.2	-	4	613_614	c.453_454delAA	c.(451-456)AAAAGAfs	p.K151fs	FAM82B_uc011lfz.1_Frame_Shift_Del_p.K151fs|FAM82B_uc011lga.1_Frame_Shift_Del_p.K151fs	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	151_152						microtubule|spindle pole	binding			ovary(1)	1						TCTAGTGCTCTTTTTGCATACT	0.396													7	60	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6013101	6013102	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6013101_6013102delAG	uc003zjr.2	-	1	2517_2518	c.2506_2507delCT	c.(2506-2508)CTGfs	p.L836fs	RANBP6_uc011lmf.1_Frame_Shift_Del_p.L484fs|RANBP6_uc003zjs.2_Frame_Shift_Del_p.L424fs	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	836	Potential.				protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTCATCTTGCAGAGACATCTCA	0.337													24	99	---	---	---	---					
UHRF2	115426	broad.mit.edu	37	9	6497275	6497278	+	Frame_Shift_Del	DEL	CAGT	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6497275_6497278delCAGT	uc003zjy.2	+	11	2022_2025	c.1682_1685delCAGT	c.(1681-1686)CCAGTCfs	p.P561fs	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zkb.2_RNA	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	561_562	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GCTGGTAAGCCAGTCAGAGTGATA	0.426													16	43	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41088882	41088884	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:41088882_41088884delAAG	uc004dfb.2	+	43	7914_7916	c.7281_7283delAAG	c.(7279-7284)GAAAGA>GAA	p.R2429del	USP9X_uc004dfc.2_In_Frame_Del_p.R2429del	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2429					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						ATGAACTTGAAAGAAGACCATAT	0.404													15	35	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76918976	76918977	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:76918976_76918977delTA	uc004ecp.3	-	12	4246_4247	c.4014_4015delTA	c.(4012-4017)CATAGGfs	p.H1338fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.H1300fs|ATRX_uc004eco.3_Frame_Shift_Del_p.H1123fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.H1270fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1338_1339					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)	CGCAAAAGCCTATGTCTGTATC	0.356			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						21	5	---	---	---	---					
