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
PSMD4	5710	broad.mit.edu	37	1	151237660	151237660	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:151237660C>T	uc001exl.2	+	5	450	c.388C>T	c.(388-390)CGC>TGC	p.R130C	PSMD4_uc001exn.2_Missense_Mutation_p.R130C	NM_002810	NP_002801	P55036	PSMD4_HUMAN	proteasome 26S non-ATPase subunit 4	130	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGGCTAAACGCCTCAAGAA	0.443000													4	19					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	A	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:57799000G>A	uc010rjz.1	+	1	576	c.576G>A	c.(574-576)TCG>TCA	p.S192S	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498000													65	61					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685742	108685742	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr12:108685742C>T	uc009zuw.2	-	3	1189	c.998G>A	c.(997-999)CGC>CAC	p.R333H	CMKLR1_uc001tmw.2_Missense_Mutation_p.R333H|CMKLR1_uc001tmv.2_Missense_Mutation_p.R331H|CMKLR1_uc009zuv.2_Missense_Mutation_p.R333H	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	333	Cytoplasmic (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						ATTGACCAGGCGAGAGAAGAG	0.483000													29	54					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605154	52605154	+	Nonsense_Mutation	SNP	C	G	G	rs141049018	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:52605154C>G	uc001vgb.2	+	2	2749	c.2214C>G	c.(2212-2214)TAC>TAG	p.Y738*	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	738					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ATGTGGGCTACCAGTCTTCCT	0.483000													4	72					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370348	86370348	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:86370348T>C	uc001vll.1	-	2	755	c.296A>G	c.(295-297)AAT>AGT	p.N99S	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	99	Extracellular (Potential).|LRR 1.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTGCAATATTGTTAAATCC	0.353000													73	20					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51448645	51448645	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr14:51448645G>C	uc001wyx.3	-	8	2545	c.1780C>G	c.(1780-1782)CCT>GCT	p.P594A	TRIM9_uc001wyy.2_Missense_Mutation_p.P675A	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	594	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CCAAAGGCAGGATCAGGGTGG	0.517000													41	53					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211148	78211148	+	Missense_Mutation	SNP	C	T	T	rs12592276	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr15:78211148C>T	uc010bky.2	-	11	1383	c.619G>A	c.(619-621)GAC>AAC	p.D207N		NR_027024				SubName: Full=GOLGA6 protein; Flags: Fragment;												0						AGCTGCTTGTCGAGCTTGTGG	0.537000													5	65					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	T	T	rs121913503		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr15:90631838C>T	uc002box.2	-	4	601	c.515G>A	c.(514-516)AGG>AAG	p.R172K	IDH2_uc010uqb.1_Missense_Mutation_p.R120K|IDH2_uc010uqc.1_Missense_Mutation_p.R42K|IDH2_uc010bnu.2_Intron	NM_002168	NP_002159	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+),	172		Substrate (By similarity).			2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(170)|p.R172M(21)|p.R172S(12)|p.R172W(7)|p.R172?(7)|p.R172G(2)		haematopoietic_and_lymphoid_tissue(621)|central_nervous_system(80)|bone(7)|skin(3)	711	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM								34	30					0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4383346	4383346	+	Splice_Site	SNP	A	G	G			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4383346A>G	uc002cwc.1	+	2	230	c.173_splice	c.e2-2	p.G58_splice		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2						cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						CCTCTCCCTCAGGCTTCCTGC	0.612000													3	40					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:21817457G>A	uc010vbl.1	-	7	603	c.106C>T	c.(106-108)CTG>TTG	p.L36L	uc002diq.3_Intron	NR_003370				SubName: Full=Putative uncharacterized protein ENSP00000219758;												0						CTTACATCCAGCTTGAGTAGT	0.254000													4	17					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132713	7132713	+	Silent	SNP	T	C	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:7132713T>C	uc002gez.1	-	7	1083	c.801A>G	c.(799-801)ACA>ACG	p.T267T	DVL2_uc010vtr.1_Silent_p.T261T|DVL2_uc010vts.1_Missense_Mutation_p.S179G|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	267	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						TTAGCGTGACTGTGATGATAT	0.567000													37	55					0	0	1	0	0
Unknown	0	broad.mit.edu	37	17	18343609	18343609	+	RNA	SNP	T	G	G			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:18343609T>G	uc010vya.1	+	1		c.388T>G								Homo sapiens cDNA FLJ56791 complete cds, highly similar to Keratin, type I cytoskeletal 16.																		ctggcttgggtggtggcttTG	0.428000													8	26					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703456	48703456	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:48703456T>C	uc002irk.1	+	38	6850	c.6478T>C	c.(6478-6480)TCC>CCC	p.S2160P	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Missense_Mutation_p.S2044P|CACNA1G_uc002irm.1_Missense_Mutation_p.S2081P|CACNA1G_uc002irn.1_Missense_Mutation_p.S2026P|CACNA1G_uc002iro.1_Missense_Mutation_p.S2033P|CACNA1G_uc002irp.1_Missense_Mutation_p.S2115P|CACNA1G_uc002irq.1_Missense_Mutation_p.S2137P|CACNA1G_uc002irr.1_Missense_Mutation_p.S2067P|CACNA1G_uc002irs.1_Missense_Mutation_p.S2104P|CACNA1G_uc002irt.1_Missense_Mutation_p.S2049P|CACNA1G_uc002irv.1_Missense_Mutation_p.S2056P|CACNA1G_uc002irw.1_Missense_Mutation_p.S2089P|CACNA1G_uc002iru.1_Missense_Mutation_p.S2126P|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Missense_Mutation_p.S1973P|CACNA1G_uc002isa.1_Missense_Mutation_p.S1946P|CACNA1G_uc002isb.1_Missense_Mutation_p.S1987P|CACNA1G_uc002isc.1_Missense_Mutation_p.S2062P|CACNA1G_uc002isd.1_Missense_Mutation_p.S1955P|CACNA1G_uc002ise.1_Missense_Mutation_p.S1983P|CACNA1G_uc002isf.1_Missense_Mutation_p.S2010P|CACNA1G_uc002isg.1_Missense_Mutation_p.S1928P|CACNA1G_uc002ish.1_Missense_Mutation_p.S1935P|CACNA1G_uc002isi.1_Missense_Mutation_p.S1923P	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2160	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGTGGGCCCTCCCCGCCCCT	0.642000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543092	14543092	+	Silent	SNP	G	A	A	rs45502401		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr18:14543092G>A	uc010dln.2	-	1	508	c.54C>T	c.(52-54)TTC>TTT	p.F18F	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	18										skin(3)	3						TCCTGAGATCGAATGGCTTCT	0.572000													6	59					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:42791757C>T	uc002otf.1	+	5	683	c.643C>T	c.(643-645)CGG>TGG	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	215	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612000			T	DUX4	soft tissue sarcoma								36	10					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47220609	47220609	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:47220609G>A	uc002rvo.2	+	6	1153	c.785G>A	c.(784-786)AGA>AAA	p.R262K	TTC7A_uc002rvm.2_Missense_Mutation_p.R228K|TTC7A_uc002rvn.1_Missense_Mutation_p.R143K|TTC7A_uc010fbb.2_Missense_Mutation_p.R262K|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_Missense_Mutation_p.R143K|TTC7A_uc002rvq.2_Missense_Mutation_p.R2K|TTC7A_uc002rvr.2_5'Flank	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	262							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGGGCATGAGAGAGCTCCGG	0.547000													46	47					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178386040	178386040	+	Missense_Mutation	SNP	T	G	G			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:178386040T>G	uc002ull.2	+	18	1788	c.1741T>G	c.(1741-1743)TTT>GTT	p.F581V	AGPS_uc010zfb.1_Missense_Mutation_p.F491V	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	581					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CTACTTCTATTTTGCCTTTAA	0.383000													33	67					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	A	A	rs137860963	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr20:29614328G>A	uc010ztk.1	+	1	67	c.-6_splice	c.e1+1		FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site					RecName: Full=Protein FRG1B;												0						TGATACGTTGGTGAGTCAGTT	0.219000													4	23					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739794	38739794	+	Silent	SNP	G	A	A	rs142804903		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:38739794G>A	uc003ciq.2	-	27	4917	c.4917C>T	c.(4915-4917)GAC>GAT	p.D1639D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1639	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAACATGTCGTCGATGCCAG	0.547000													71	69					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870721	69870721	+	Silent	SNP	A	G	G	rs111542944		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr4:69870721A>G	uc011cao.1	-	9	1465	c.1329T>C	c.(1327-1329)CAT>CAC	p.H443H	UGT2B10_uc011can.1_Silent_p.H359H			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	480					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						AGGTGAGGTCATGGGCTGCAA	0.478000													5	92					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54191662	54191662	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr6:54191662G>A	uc003pcj.2	+	4	718	c.572G>A	c.(571-573)CGC>CAC	p.R191H	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTAAATTTCGCCTTGGCACT	0.373000													30	54					0	0	1	0	0
PMS2L4	5382	broad.mit.edu	37	7	66764392	66764392	+	RNA	SNP	T	C	C	rs75182069	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:66764392T>C	uc003tvo.2	-	2		c.64A>G			PMS2L4_uc003tvq.2_RNA|PMS2L4_uc003tvr.3_RNA|PMS2L4_uc003tvs.3_RNA					Homo sapiens cDNA clone IMAGE:4081618.												0						ATAGGTTTGATGGCCTTAGCA	0.418000													9	229					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784608	82784608	+	Missense_Mutation	SNP	G	T	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:82784608G>T	uc003uhx.2	-	2	1638	c.1349C>A	c.(1348-1350)CCA>CAA	p.P450Q	PCLO_uc003uhv.2_Missense_Mutation_p.P450Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	401	Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGTTGAGCTGGAATCTTTCC	0.577000													47	65					1.63429e-32	1.71401e-32	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107748127	107748127	+	Missense_Mutation	SNP	G	T	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:107748127G>T	uc010ljo.1	-	6	624	c.540C>A	c.(538-540)GAC>GAA	p.D180E	LAMB4_uc003vey.2_Missense_Mutation_p.D180E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	180	Laminin N-terminal.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CACAAACAATGTCTCCCACTC	0.388000													26	34					3.80469e-20	3.89528e-20	1	1	0
SLC37A3	84255	broad.mit.edu	37	7	140058508	140058508	+	Silent	SNP	G	A	A	rs142313913	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:140058508G>A	uc003vvo.2	-	6	619	c.453C>T	c.(451-453)AAC>AAT	p.N151N	SLC37A3_uc003vvp.2_Silent_p.N151N|SLC37A3_uc010lnh.2_Silent_p.N151N|SLC37A3_uc011kqz.1_Intron|SLC37A3_uc011kra.1_Silent_p.N151N|SLC37A3_uc011krb.1_Silent_p.N123N	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	151	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					GCAGCAGGCCGTTCACAATCC	0.512000													61	92					0	0	1	0	0
TRY6	154754	broad.mit.edu	37	7	142481789	142481789	+	Silent	SNP	T	C	C	rs140267598	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:142481789T>C	uc011ksq.1	+	4	551	c.468T>C	c.(466-468)GAT>GAC	p.D156D	uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_Intron	NR_001296				SubName: Full=Protease, serine, 3; Flags: Fragment;												0						ACTACCCAGATGAGCTGCAGT	0.488000													6	66					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79936584	79936584	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:79936584G>A	uc004akr.2	+	44	6012	c.5752G>A	c.(5752-5754)GAT>AAT	p.D1918N	VPS13A_uc004akp.3_Missense_Mutation_p.D1918N|VPS13A_uc004akq.3_Missense_Mutation_p.D1918N|VPS13A_uc004aks.2_Missense_Mutation_p.D1879N|VPS13A_uc004akt.2_Missense_Mutation_p.D258N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1918					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TTTAAGTATGGATTATATCCG	0.338000													24	35					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4431389	4431391	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4431389_4431391delCTG	uc002cwj.1	+	2	666_668	c.511_513delCTG	c.(511-513)CTGdel	p.L174del	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	174	LRR 6.|Extracellular (Potential).					extracellular region|integral to membrane					0						CCTGCCCCGCCTGCTGCTGCTGG	0.704													2	4	---	---	---	---					
SLC12A4	6560	broad.mit.edu	37	16	67986327	67986340	+	Splice_Site	DEL	GTCTGAAACAAGAA	-	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:67986327_67986340delGTCTGAAACAAGAA	uc002euz.2	-	7	817	c.676_splice	c.e7-1	p.T226_splice	SLC12A4_uc010ceu.2_Splice_Site_p.T220_splice|SLC12A4_uc010vkh.1_Splice_Site_p.T195_splice|SLC12A4_uc010vki.1_Splice_Site_p.T226_splice|SLC12A4_uc010vkj.1_Splice_Site_p.T228_splice|SLC12A4_uc002eva.2_Splice_Site_p.T226_splice|SLC12A4_uc002evb.2_Splice_Site|SLC12A4_uc010cew.1_Splice_Site_p.R147_splice	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a						cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCAATGTAGGTCTGAAACAAGAAGATGGATAAG	0.374													17	100	---	---	---	---					
PLCD3	113026	broad.mit.edu	37	17	43198453	43198453	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:43198453delC	uc002iib.2	-	3	484	c.370delG	c.(370-372)GAGfs	p.E124fs		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	124	PH.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CGCAGGCCCTCGGACTGGTGG	0.736													2	4	---	---	---	---					
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	-	-	rs11571510		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr18:3452223delT	uc002klz.2	+	1	633	c.246delT	c.(244-246)CCTfs	p.P82fs	TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	NM_170695	NP_733796	Q15583	TGIF1_HUMAN	TG-interacting factor isoform a	82					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													13	2	---	---	---	---					
FUT5	2527	broad.mit.edu	37	19	5867346	5867347	+	Frame_Shift_Ins	INS	-	GG	GG	rs111394159		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:5867346_5867347insGG	uc002mdo.3	-	2	478_479	c.390_391insCC	c.(388-393)CCCAGTfs	p.P130fs	FUT5_uc010duo.2_Frame_Shift_Ins_p.P130fs	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	130_131	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						AGGTTGGCACTGGGGTTGTACA	0.663													25	39	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:178916938_178916940delGAA	uc003fjk.2	+	2	482_484	c.325_327delGAA	c.(325-327)GAAdel	p.E110del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(2)|p.G106_R108del(1)|p.E110K(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.340		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			44	54	---	---	---	---					
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:102590616_102590618delCAC	uc004baf.1	+	3	1021_1023	c.292_294delCAC	c.(292-294)CACdel	p.H108del	NR4A3_uc004bae.2_In_Frame_Del_p.H108del|NR4A3_uc004bag.1_In_Frame_Del_p.H108del|NR4A3_uc004bai.2_In_Frame_Del_p.H119del	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.483			T	EWSR1	extraskeletal myxoid chondrosarcoma								8	58	---	---	---	---					
