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
CASQ2	845	broad.mit.edu	37	1	116311162	116311162	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr1:116311162T>C	uc001efx.3	-	1	265	c.1A>G	c.(1-3)ATG>GTG	p.M1V	CASQ2_uc010owu.1_Missense_Mutation_p.M1V	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	1					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTTCTCTTCATTTGGGAAAAC	0.453000													6	19					0	0	0.001984	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360584	145360584	+	Missense_Mutation	SNP	G	A	A	rs78186669		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr1:145360584G>A	uc001end.3	+	76	9469	c.9434G>A	c.(9433-9435)GGG>GAG	p.G3145E	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Missense_Mutation_p.G443E	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3070											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGGGCCTGAAGTC	0.483000													4	13					0	0	0.009096	0	0
RAG2	5897	broad.mit.edu	37	11	36614246	36614246	+	Silent	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:36614246G>A	uc001mwv.3	-	2	1661	c.1473C>T	c.(1471-1473)CCC>CCT	p.P491P	RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	491					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGACTCTTTGGGGAGTGTGTA	0.448000									Familial_Hemophagocytic_Lymphohistiocytosis				30	49					0	0	0.010818	0	0
ROBO3	64221	broad.mit.edu	37	11	124738751	124738751	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:124738751G>A	uc001qbc.2	+	2	406	c.214G>A	c.(214-216)GAT>AAT	p.D72N		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	72	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCAGCCGCCAGATCTGCTGGT	0.672000													3	12					0	0	0.004672	0	0
OPCML	4978	broad.mit.edu	37	11	132527046	132527046	+	Silent	SNP	C	T	T			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:132527046C>T	uc001qgs.2	-	2	386	c.336G>A	c.(334-336)CCG>CCA	p.P112P	OPCML_uc001qgu.2_Silent_p.P105P|OPCML_uc010sck.1_Silent_p.P112P|OPCML_uc001qgt.2_Silent_p.P112P|OPCML_uc010scl.1_Silent_p.P71P	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGCAGGTGTACGGACCTTCGT	0.502000													19	56					0	0	0.008871	0	0
FREM2	341640	broad.mit.edu	37	13	39454427	39454427	+	Missense_Mutation	SNP	C	G	G	rs148812741		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr13:39454427C>G	uc001uwv.2	+	24	9322	c.9013C>G	c.(9013-9015)CTA>GTA	p.L3005V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	3005	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTAGGTCGCTCTAGGCCGAGA	0.388000													17	31					0	0	0.007413	0	0
TMX1	81542	broad.mit.edu	37	14	51713855	51713855	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr14:51713855G>C	uc001wza.3	+	4	485	c.360G>C	c.(358-360)AAG>AAC	p.K120N	TMX1_uc010aoa.2_Missense_Mutation_p.K36N	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	thioredoxin domain containing 1 precursor	120	Thioredoxin.|Extracellular (Potential).				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity				0						CAAGGACTAAGAAGGACTTCA	0.353000													38	46					0	0	0.008740	0	0
LOC645752	645752	broad.mit.edu	37	15	78211427	78211427	+	Missense_Mutation	SNP	G	T	T	rs71145882		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr15:78211427G>T	uc010bky.2	-	11	1104	c.340C>A	c.(340-342)CTC>ATC	p.L114I		NR_027024				SubName: Full=GOLGA6 protein; Flags: Fragment;												0						TGCTCTCGGAGCATCTCCTCC	0.587000													6	139					8.12818e-05	8.54501e-05	0.001984	1	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr17:7578550G>A	uc002gim.2	-	5	574	c.380C>T	c.(379-381)TCC>TTC	p.S127F	TP53_uc002gig.1_Missense_Mutation_p.S127F|TP53_uc002gih.2_Missense_Mutation_p.S127F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127F|TP53_uc010cni.1_Missense_Mutation_p.S127F|TP53_uc002gij.2_Missense_Mutation_p.S127F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	127	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (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.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GAGGGCAGGGGAGTACTGTAG	0.552000		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)			15	20					0	0	0.003163	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881347	1881347	+	Silent	SNP	A	G	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:1881347A>G	uc002lug.2	-	2	625	c.219T>C	c.(217-219)CGT>CGC	p.R73R	FAM108A1_uc002lud.2_Silent_p.R73R|FAM108A1_uc002lue.2_Silent_p.R73R|FAM108A1_uc002luf.2_Silent_p.R73R	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	73						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGTCGGCACGCTCCGTCA	0.716000													3	36					0	0	0.009096	0	0
SMARCA4	6597	broad.mit.edu	37	19	11143993	11143993	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:11143993C>T	uc002mqf.3	+	26	3858	c.3574C>T	c.(3574-3576)CGC>TGC	p.R1192C	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1192C|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1192C|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R412C|SMARCA4_uc002mqh.3_Missense_Mutation_p.R315C|SMARCA4_uc002mqi.1_Missense_Mutation_p.R395C	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAGCCCACCGCATCGGGCA	0.607000			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				8	42					0	0	0.003080	0	0
CASP14	23581	broad.mit.edu	37	19	15166067	15166067	+	Missense_Mutation	SNP	G	A	A	rs148526551		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:15166067G>A	uc010dzv.1	+	5	810	c.502G>A	c.(502-504)GTT>ATT	p.V168I	CASP14_uc002naf.2_Missense_Mutation_p.V168I	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	168					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4						TGCCTTGCACGTTTATTCCAC	0.547000													4	48					0	0	0.009096	0	0
WDR62	284403	broad.mit.edu	37	19	36572456	36572456	+	Missense_Mutation	SNP	A	T	T			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:36572456A>T	uc002odc.2	+	10	1446	c.1355A>T	c.(1354-1356)AAA>ATA	p.K452I	WDR62_uc002odd.2_Missense_Mutation_p.K452I	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	452					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACTGGCAGAAAAACATCTTC	0.473000													19	79					0	0	0.007413	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	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	0.393000			Mis		gliobastoma 								30	48					0	0	0.010818	0	0
ABCA12	26154	broad.mit.edu	37	2	215823176	215823176	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:215823176A>G	uc002vew.2	-	41	6162	c.5942T>C	c.(5941-5943)ATC>ACC	p.I1981T	ABCA12_uc002vev.2_Missense_Mutation_p.I1663T|ABCA12_uc010zjn.1_Missense_Mutation_p.I908T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1981	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACTGCTGATTCTAGAGTG	0.388000													25	23					0	0	0.003330	0	0
CCDC108	255101	broad.mit.edu	37	2	219895549	219895549	+	Silent	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:219895549G>A	uc002vjl.1	-	9	1107	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.C330C|CCDC108_uc010zkq.1_Silent_p.C276C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	341						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)		GCAGCTGGGCGCACTTGGCTG	0.637000													8	25					0	0	0.004482	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652393	234652393	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:234652393G>A	uc002vuz.2	-	1	269	c.170C>T	c.(169-171)TCG>TTG	p.S57L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	57	J.				protein folding		heat shock protein binding|unfolded protein binding				0						CTTGGCGTCCGACAACACCTC	0.632000													70	157					0	0	0.014410	0	0
IL17REL	400935	broad.mit.edu	37	22	50435799	50435799	+	Silent	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr22:50435799G>A	uc003bje.1	-	13	1156	c.924C>T	c.(922-924)AGC>AGT	p.S308S		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	308										pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCAGGGAGCTGTGACTTC	0.667000													5	29					0	0	0.003080	0	0
C3orf63	23272	broad.mit.edu	37	3	56694986	56694986	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr3:56694986G>A	uc003did.3	-	10	1321	c.1220C>T	c.(1219-1221)CCT>CTT	p.P407L	C3orf63_uc003dic.3_Missense_Mutation_p.P11L|C3orf63_uc003die.3_Missense_Mutation_p.P407L	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	407										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CAGTGCTGGAGGGATTTTCTG	0.299000													16	42					0	0	0.007413	0	0
EPHA5	2044	broad.mit.edu	37	4	66201659	66201659	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr4:66201659G>A	uc003hcy.2	-	16	3036	c.2843C>T	c.(2842-2844)GCA>GTA	p.A948V	EPHA5_uc003hcx.2_Missense_Mutation_p.A880V|EPHA5_uc003hcz.2_Missense_Mutation_p.A926V|EPHA5_uc011cah.1_Missense_Mutation_p.A949V|EPHA5_uc011cai.1_Missense_Mutation_p.A927V|EPHA5_uc003hda.2_Missense_Mutation_p.A949V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	948	Cytoplasmic (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCTGCAGGATGCATTAACCAG	0.403000										TSP Lung(17;0.13)			35	63					0	0	0.010771	0	0
FAT4	79633	broad.mit.edu	37	4	126239329	126239329	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr4:126239329A>G	uc003ifj.3	+	1	1763	c.1763A>G	c.(1762-1764)TAT>TGT	p.Y588C		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	588	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCAGAAGGGTATGATGTGTCT	0.532000													35	51					0	0	0.003271	0	0
GEMIN5	25929	broad.mit.edu	37	5	154270897	154270897	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr5:154270897T>C	uc003lvx.3	-	26	4249	c.4166A>G	c.(4165-4167)CAA>CGA	p.Q1389R	GEMIN5_uc011ddk.1_Missense_Mutation_p.Q1388R	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1389	Potential.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACTCTTTTGGTGTTGTCG	0.458000													36	55					0	0	0.003755	0	0
GRM4	2914	broad.mit.edu	37	6	33996059	33996059	+	Missense_Mutation	SNP	A	C	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr6:33996059A>C	uc003oir.3	-	9	2697	c.2527T>G	c.(2527-2529)TAC>GAC	p.Y843D	GRM4_uc011dsn.1_Missense_Mutation_p.Y796D|GRM4_uc010jvh.2_Missense_Mutation_p.Y843D|GRM4_uc010jvi.2_Missense_Mutation_p.Y535D|GRM4_uc003oio.2_Missense_Mutation_p.Y535D|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.Y703D|GRM4_uc003oiq.2_Missense_Mutation_p.Y710D|GRM4_uc011dsm.1_Missense_Mutation_p.Y674D	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	843	Helical; Name=7; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	AGGATGATGTAGACTTTGGGC	0.607000													49	72					0	0	0.014410	0	0
RARRES2	5919	broad.mit.edu	37	7	150037192	150037192	+	Silent	SNP	A	G	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr7:150037192A>G	uc003wha.2	-	3	393	c.276T>C	c.(274-276)AAT>AAC	p.N92N	RARRES2_uc010lpp.1_Silent_p.N92N	NM_002889	NP_002880	Q99969	RARR2_HUMAN	chemerin preproprotein	92					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACTCACCCCATTGGGCCTGA	0.567000													193	327					0	0	0.014410	0	0
KCNU1	157855	broad.mit.edu	37	8	36694322	36694322	+	Silent	SNP	A	G	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr8:36694322A>G	uc010lvw.2	+	14	1464	c.1377A>G	c.(1375-1377)CCA>CCG	p.P459P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	459	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTTATCTGCCAAAGATTCCCA	0.423000													15	37					0	0	0.004990	0	0
WWC3	55841	broad.mit.edu	37	X	10106879	10106879	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:10106879G>A	uc004csx.3	+	21	3185	c.2987G>A	c.(2986-2988)CGG>CAG	p.R996Q	WWC3_uc010nds.2_Missense_Mutation_p.R660Q|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	996	Potential.									ovary(4)	4						CTGCGGCAGCGGTTGGAGGAC	0.701000													10	20					0	0	0.010729	0	0
POLA1	5422	broad.mit.edu	37	X	24753561	24753561	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:24753561T>A	uc004dbl.2	+	18	1884	c.1861T>A	c.(1861-1863)TTT>ATT	p.F621I		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	621					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	ACTGCTAGGTTTTTTCCTTGC	0.393000													25	55					0	0	0.010818	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999088	27999088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:27999088G>A	uc004dbx.1	-	1	479	c.364C>T	c.(364-366)CGA>TGA	p.R122*		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	122										ovary(3)|skin(1)	4						CCACCGCATCGTGGACACATC	0.423000													14	27					0	0	0.002450	0	0
ZNF157	7712	broad.mit.edu	37	X	47272249	47272249	+	Silent	SNP	A	C	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:47272249A>C	uc004dhr.1	+	4	846	c.777A>C	c.(775-777)GCA>GCC	p.A259A		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	259	C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGAGAAGGCAACCCTCACGA	0.438000													7	27					0	0	0.003080	0	0
KCND1	3750	broad.mit.edu	37	X	48826090	48826090	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:48826090C>T	uc004dlx.1	-	1	2162	c.589G>A	c.(589-591)GCC>ACC	p.A197T	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	197	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						ACCGACACGGCGATGAAGAAG	0.642000													10	8					0	0	0.008291	0	0
LOC653544	653544	broad.mit.edu	37	10	135490734	135490734	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr10:135490734delG	uc010qvi.1	+	1	456	c.345delG	c.(343-345)CAGfs	p.Q115fs		NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN	double homeobox, 4-like	115						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCTGGCCCAGGCCATCGGCA	0.662													2	4	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62302761	62302776	+	Frame_Shift_Del	DEL	CATGTAGAGTTTTGCA	-	-			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr15:62302761_62302776delCATGTAGAGTTTTGCA	uc002agz.2	-	13	980_995	c.906_921delTGCAAAACTCTACATG	c.(904-921)TCTGCAAAACTCTACATGfs	p.S302fs	VPS13C_uc002aha.2_Frame_Shift_Del_p.S259fs|VPS13C_uc002ahb.1_Frame_Shift_Del_p.S302fs|VPS13C_uc002ahc.1_Frame_Shift_Del_p.S259fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	302_307					protein localization					ovary(2)	2						CATAAGGATTCATGTAGAGTTTTGCAGAGGCTGATA	0.352													17	58	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268112	129268113	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr3:129268112_129268113insG	uc003emu.2	+	3	652_653	c.647_648insG	c.(646-648)AAGfs	p.K216fs	H1FOO_uc003emv.2_Frame_Shift_Ins_p.K77fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	216					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			skin(1)	1						GAGGCTAGGAAGGTGCCCCCCA	0.649													3	3	---	---	---	---					
