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
PLCH2	9651	broad.mit.edu	37	1	2415924	2415924	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:2415924T>G	uc001aji.1	+	5	957	c.683T>G	c.(682-684)TTT>TGT	p.F228C	PLCH2_uc010nyz.1_Missense_Mutation_p.F16C|PLCH2_uc009vle.1_Missense_Mutation_p.F16C|PLCH2_uc001ajj.1_Missense_Mutation_p.F16C|PLCH2_uc001ajk.1_Missense_Mutation_p.F16C	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	228	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACGCTGGGTTTTGAAGAGTTC	0.602000													8	26					0	0	0.003080	0	0
ZNF642	339559	broad.mit.edu	37	1	40961691	40961691	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:40961691A>G	uc001cfo.2	+	6	1835	c.1541A>G	c.(1540-1542)CAT>CGT	p.H514R	ZNF642_uc009vwb.2_Missense_Mutation_p.H514R|ZNF642_uc010ojk.1_Missense_Mutation_p.H515R	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	514	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			AGTCGACATCATGAAATACAC	0.368000													24	78					0	0	0.014323	0	0
OR6K2	81448	broad.mit.edu	37	1	158670418	158670418	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:158670418T>C	uc001fsu.1	-	1	25	c.25A>G	c.(25-27)ATT>GTT	p.I9V		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					AACTCCTGAATGGTGGTTCGA	0.433000													15	64					0	0	0.003163	0	0
TUBB8	347688	broad.mit.edu	37	10	93136	93136	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr10:93136G>A	uc001ifi.2	-	4	1196	c.1196C>T	c.(1195-1197)ACG>ATG	p.T399M	TUBB8_uc009xhe.2_Missense_Mutation_p.T362M|TUBB8_uc010pzs.1_Missense_Mutation_p.T327M	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	399					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCCCTCGCCCGTGTACCAGTG	0.512000													13	94					0	0	0.006122	0	0
LOC441666	441666	broad.mit.edu	37	10	42832104	42832104	+	RNA	SNP	G	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr10:42832104G>T	uc010qey.1	-	3		c.1871C>A				NR_024380				Homo sapiens noncoding mRNA sequence.												0						TGAATAAGGTGTGAGGAACAG	0.338000													3	11					0.004672	0.0050808	0.004672	1	0
MLL	4297	broad.mit.edu	37	11	118367049	118367049	+	Silent	SNP	G	A	A	rs147764171	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr11:118367049G>A	uc001pta.2	+	20	5645	c.5622G>A	c.(5620-5622)GCG>GCA	p.A1874A	MLL_uc001ptb.2_Silent_p.A1877A	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1874					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GACAGTGTGCGTTATGTTTGA	0.438000			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								5	92					0	0	0.000602	0	0
DDX12	440081	broad.mit.edu	37	12	9573224	9573224	+	Missense_Mutation	SNP	C	T	T	rs7358609	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr12:9573224C>T	uc010sgs.1	-	21	2284	c.2089G>A	c.(2089-2091)GGT>AGT	p.G697S	DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	NM_004400	NP_004391			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12												0						GAAACCACACCGCACAGGTTA	0.483000													4	45					0	0	0.003080	0	0
SYNE2	23224	broad.mit.edu	37	14	64375888	64375888	+	Missense_Mutation	SNP	C	T	T	rs2275017	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr14:64375888C>T	uc001xgm.2	+	2	252	c.22C>T	c.(22-24)CCC>TCC	p.P8S	SYNE2_uc001xgk.2_Missense_Mutation_p.P8S|SYNE2_uc001xgl.2_Missense_Mutation_p.P8S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	8	Cytoplasmic (Potential).|Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCTGAGCTTCCCACCGAAGA	0.433000													5	100					0	0	0.001168	0	0
ADAM6	8755	broad.mit.edu	37	14	106993798	106993798	+	Splice_Site	SNP	C	T	T	rs7146961	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr14:106993798C>T	uc010tyt.1	-	187		c.8648_splice	c.e187+1							Parts of antibodies, mostly variable regions.												0						TCACACTGACCTCCCCTCACT	0.587000													10	257					0	0	0.004007	0	0
SNORD115-13	100033450	broad.mit.edu	37	15	25438440	25438440	+	RNA	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:25438440A>G	uc001yzf.1	+	3		c.318A>G			SNORD115-13_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank					Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0						TGCTGGATGCATGCGCCGGGA	0.537000													50	178					0	0	0.014410	0	0
Unknown	0	broad.mit.edu	37	16	31973501	31973501	+	RNA	SNP	C	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr16:31973501C>G	uc002ect.2	+	1		c.93C>G								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		CCTTCAGTAACAGTGACATGA	0.582000													34	126					0	0	0.003271	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:7578413C>T	uc002gim.2	-	5	711	c.517G>A	c.(517-519)GTG>ATG	p.V173M	TP53_uc002gig.1_Missense_Mutation_p.V173M|TP53_uc002gih.2_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.1_Missense_Mutation_p.V134M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	173	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		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.V173L(54)|p.V173M(40)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V80L(2)|p.V173fs*59(2)|p.V41L(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.V80M(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V41M(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)		CAGCGCCTCACAACCTCCGTC	0.662000		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)			31	27					0	0	0.009535	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274491	39274491	+	Missense_Mutation	SNP	C	T	T	rs113376601	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39274491C>T	uc002hvz.2	-	1	116	c.77G>A	c.(76-78)CGC>CAC	p.R26H		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	26	2.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGGCAGCAGGT	0.627000													4	47					0	0	0.009096	0	0
KRT38	8687	broad.mit.edu	37	17	39596991	39596991	+	Silent	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39596991G>A	uc002hwq.1	-	1	606	c.183C>T	c.(181-183)CCC>CCT	p.P61P		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	61	Head.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				GGCGGCCCAGGGGAGTGGACC	0.637000													6	78					0	0	0.001168	0	0
TTYH2	94015	broad.mit.edu	37	17	72233513	72233513	+	Silent	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72233513C>T	uc002jkc.2	+	4	526	c.495C>T	c.(493-495)GGC>GGT	p.G165G	TTYH2_uc010wqw.1_Silent_p.G144G	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	165	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						CTGCCCGGGGCGATTACCTGC	0.597000													19	61					0	0	0.006122	0	0
OTOP2	92736	broad.mit.edu	37	17	72923807	72923807	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72923807C>A	uc010wrp.1	+	6	646	c.557C>A	c.(556-558)GCG>GAG	p.A186E	OTOP2_uc002jmf.1_3'UTR	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577000													4	43					0.00909568	0.00953403	0.009096	1	0
PLVAP	83483	broad.mit.edu	37	19	17487967	17487967	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:17487967A>G	uc002ngk.1	-	1	181	c.131T>C	c.(130-132)GTG>GCG	p.V44A		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	44	Helical; Signal-anchor for type II membrane protein; (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CATGAAGAGCACGAGCCCCAG	0.612000													19	53					0	0	0.007413	0	0
Unknown	0	broad.mit.edu	37	19	20959119	20959119	+	RNA	SNP	T	G	G	rs8106412	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:20959119T>G	uc002npe.2	+	1		c.10T>G								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		TGTCTCTCCCTGCAGCTGGAG	0.582000													4	34					0	0	0.009096	0	0
STRN4	29888	broad.mit.edu	37	19	47236439	47236439	+	Silent	SNP	G	A	A	rs141865144		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:47236439G>A	uc002pfl.2	-	5	627	c.594C>T	c.(592-594)CGC>CGT	p.R198R	STRN4_uc002pfm.2_Silent_p.R198R|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	198						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGGAACGGACGCGCTTGGACC	0.672000													3	35					0	0	0.004672	0	0
MYT1L	23040	broad.mit.edu	37	2	1906994	1906994	+	Silent	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:1906994C>T	uc002qxe.2	-	14	2717	c.1890G>A	c.(1888-1890)CCG>CCA	p.P630P	MYT1L_uc002qxd.2_Silent_p.P628P|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	630					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTGGAACGCGGCGTAGTTG	0.468000													12	30					0	0	0.010729	0	0
ZNF638	27332	broad.mit.edu	37	2	71576853	71576853	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:71576853G>A	uc002shx.2	+	2	1088	c.769G>A	c.(769-771)GTG>ATG	p.V257M	ZNF638_uc010fec.2_Missense_Mutation_p.V363M|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.V257M|ZNF638_uc002shy.2_Missense_Mutation_p.V257M|ZNF638_uc002shz.2_Missense_Mutation_p.V257M|ZNF638_uc002sia.2_Missense_Mutation_p.V257M|ZNF638_uc002sib.1_Missense_Mutation_p.V257M	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	257					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CAATCCAAATGTGATATGTAA	0.408000													8	149					0	0	0.003080	0	0
MOGS	7841	broad.mit.edu	37	2	74688527	74688527	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:74688527G>A	uc010ffj.2	-	4	2552	c.2389C>T	c.(2389-2391)CGC>TGC	p.R797C	MOGS_uc010ffh.2_Missense_Mutation_p.R522C|MOGS_uc010yrt.1_Missense_Mutation_p.R678C|MOGS_uc010ffi.2_Missense_Mutation_p.R691C	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	797	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						TGGTACTGGCGCCATACATTG	0.622000													26	75					0	0	0.004656	0	0
FAM123C	205147	broad.mit.edu	37	2	131521009	131521009	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:131521009C>T	uc002trw.2	+	2	1554	c.1364C>T	c.(1363-1365)ACG>ATG	p.T455M	FAM123C_uc010fmv.2_Missense_Mutation_p.T455M|FAM123C_uc010fms.1_Missense_Mutation_p.T455M|FAM123C_uc010fmt.1_Missense_Mutation_p.T455M|FAM123C_uc010fmu.1_Missense_Mutation_p.T455M	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	455										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCCTGGGGACGCCACTGTCC	0.652000													21	46					0	0	0.010504	0	0
Unknown	0	broad.mit.edu	37	2	190788097	190788097	+	Silent	SNP	T	C	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:190788097T>C	uc002uro.2	+	1	179	c.36T>C	c.(34-36)CGT>CGC	p.R12R						SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C;																		CAGATCCTCGTTCCATGAACT	0.443000													8	100					0	0	0.004482	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:209113113G>A	uc002vcs.2	-	4	640	c.394C>T	c.(394-396)CGT>TGT	p.R132C	IDH1_uc002vct.2_Missense_Mutation_p.R132C|IDH1_uc002vcu.2_Missense_Mutation_p.R132C	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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma 								20	54					0	0	0.008871	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032549	46032549	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr21:46032549C>T	uc002zfo.1	+	1	554	c.532C>T	c.(532-534)CCT>TCT	p.P178S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	keratin associated protein 10-8	178	19 X 5 AA repeats of C-C-X(3).|13.					keratin filament				large_intestine(1)|breast(1)	2						CTGCTGTGTGCCTGTCTGCTC	0.622000													10	246					0	0	0.006214	0	0
LOC96610	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:22664141G>A	uc011aim.1	+	30		c.1998G>A			LOC96610_uc011aiq.1_RNA					Parts of antibodies, mostly variable regions.												0						AAATTTGAAGGTGCTGTGATT	0.448000													5	98					0	0	0.000602	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829961	26829961	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:26829961A>G	uc003acg.2	+	2	777	c.380A>G	c.(379-381)TAC>TGC	p.Y127C		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	127	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			ovary(1)	1						CAGAAGCTGTACCACAACCTG	0.652000													12	39					0	0	0.010729	0	0
CASR	846	broad.mit.edu	37	3	122003874	122003874	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:122003874C>A	uc003eev.3	+	7	3445	c.3073C>A	c.(3073-3075)CTG>ATG	p.L1025M	CASR_uc003eew.3_Missense_Mutation_p.L1035M	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1025	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGACTTAGATCTGACCGTCCA	0.592000													22	57					1.2644e-06	1.42861e-06	0.010504	1	0
FNDC3B	64778	broad.mit.edu	37	3	172048389	172048389	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:172048389G>A	uc003fhy.2	+	13	1610	c.1438G>A	c.(1438-1440)GCA>ACA	p.A480T	FNDC3B_uc003fhz.3_Missense_Mutation_p.A480T|FNDC3B_uc003fia.2_Missense_Mutation_p.A411T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	480	Fibronectin type-III 3.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGCCTTCTGCACCAAGGCT	0.493000													5	63					0	0	0.000602	0	0
LOC348926	348926	broad.mit.edu	37	4	3948415	3948415	+	RNA	SNP	G	A	A	rs73076893	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:3948415G>A	uc011bvu.1	-	5		c.1920C>T			LOC348926_uc003ghn.2_Intron	NR_024253				Homo sapiens hypothetical protein LOC348926, mRNA (cDNA clone IMAGE:4546485), partial cds.												0						TTACGCCGGCGCCCAGTTCTT	0.652000													3	32					0	0	0.004672	0	0
PDGFRA	5156	broad.mit.edu	37	4	55152040	55152040	+	Silent	SNP	C	T	T	rs2228230	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:55152040C>T	uc003han.3	+	18	2803	c.2472C>T	c.(2470-2472)GTC>GTT	p.V824V	PDGFRA_uc003haa.2_Silent_p.V584V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	824	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.V824V(8)|p.V824L(1)		soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCGCAACGTCCTCCTGGCAC	0.498000			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			7	128					0	0	0.003080	0	0
FRAS1	80144	broad.mit.edu	37	4	79428637	79428637	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:79428637T>C	uc003hlb.2	+	62	9819	c.9379T>C	c.(9379-9381)TCT>CCT	p.S3127P	FRAS1_uc003hlc.1_Missense_Mutation_p.S129P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3122	Calx-beta 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ATGGCATGAATCTTTCTCACT	0.488000													4	33					0	0	0.000602	0	0
LOC441089	441089	broad.mit.edu	37	5	79647385	79647385	+	RNA	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:79647385A>G	uc010jaj.1	-	1		c.401T>C				NR_003665				Homo sapiens CRSP8 pseudogene (LOC441089), non-coding RNA.												0						TTCAACGACTACTGATTTAAA	0.448000													29	68					0	0	0.008361	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750527	140750527	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:140750527G>T	uc003ljw.1	+	1	566	c.566G>T	c.(565-567)AGT>ATT	p.S189I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.S189I	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	189	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGGCAGTAGGTACCCA	0.557000													34	127					1.74807e-11	2.00108e-11	0.010818	1	0
ZNF300	91975	broad.mit.edu	37	5	150275093	150275093	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:150275093T>A	uc003lsy.1	-	6	1975	c.1708A>T	c.(1708-1710)ATT>TTT	p.I570F	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	570	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAATCCTCTGATGT	0.438000													20	60					0	0	0.012319	0	0
RREB1	6239	broad.mit.edu	37	6	7229937	7229937	+	Silent	SNP	G	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:7229937G>T	uc003mxc.2	+	10	1995	c.1605G>T	c.(1603-1605)CCG>CCT	p.P535P	RREB1_uc003mxb.2_Silent_p.P535P|RREB1_uc010jnx.2_Silent_p.P535P	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	535	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGCTTCCCCGGGCTGTATCA	0.682000													31	103					5.60225e-13	6.49861e-13	0.009535	1	0
BTN2A3	54718	broad.mit.edu	37	6	26423175	26423175	+	Missense_Mutation	SNP	G	A	A	rs151279164	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:26423175G>A	uc011dkl.1	+	2	124	c.94G>A	c.(94-96)GTG>ATG	p.V32M	BTN2A3_uc011dkm.1_RNA					RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor;												0						GGTCACTGTCGTGGGGCCCAC	0.537000													17	41					0	0	0.004990	0	0
Unknown	0	broad.mit.edu	37	7	99578411	99578411	+	Missense_Mutation	SNP	T	C	C	rs62484970	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr7:99578411T>C	uc003usi.2	+	1	27	c.16T>C	c.(16-18)TCT>CCT	p.S6P						RecName: Full=Putative zinc-alpha-2-glycoprotein-like 2; Flags: Precursor;																		AAGAATGGTGTCTGTCCTGCT	0.582000													6	145					0	0	0.003080	0	0
Unknown	0	broad.mit.edu	37	9	70182125	70182125	+	RNA	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr9:70182125A>G	uc004afw.2	-	3		c.1987T>C								Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.																		TTTGTCTTTGATTGACACCAA	0.408000													7	69					0	0	0.006214	0	0
C9orf79	286234	broad.mit.edu	37	9	90501078	90501078	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr9:90501078T>C	uc004app.3	+	4	1711	c.1676T>C	c.(1675-1677)GTC>GCC	p.V559A	C9orf79_uc004apo.1_Missense_Mutation_p.V371A	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	559						integral to membrane				ovary(3)	3						ACACAGTCTGTCATCCCCACT	0.483000													10	162					0	0	0.010729	0	0
FAM47A	158724	broad.mit.edu	37	X	34149060	34149060	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chrX:34149060C>G	uc004ddg.2	-	1	1369	c.1336G>C	c.(1336-1338)GAG>CAG	p.E446Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	446										ovary(4)|central_nervous_system(1)	5						ACCCGGGCCTCACAACGATCC	0.557000													17	19					0	0	0.004007	0	0
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr13:23914687delT	uc001uon.2	-	10	3917	c.3328delA	c.(3328-3330)ATTfs	p.I1110fs	SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													7	326	---	---	---	---					
OCA2	4948	broad.mit.edu	37	15	28171297	28171297	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:28171297delA	uc001zbh.3	-	19	2165	c.2055delT	c.(2053-2055)TTTfs	p.F685fs	OCA2_uc010ayv.2_Frame_Shift_Del_p.F661fs	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	685	Helical; (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGCGCTGCAAAAAACAGAA	0.363									Oculocutaneous_Albinism				19	64	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:47935681_47935683delTCC	uc002pgx.2	-	9	2408_2410	c.2130_2132delGGA	c.(2128-2133)GAGGAC>GAC	p.E710del	SLC8A2_uc010xyq.1_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.1_In_Frame_Del_p.E173del|SLC8A2_uc010ele.2_In_Frame_Del_p.E710del	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	710	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													7	141	---	---	---	---					
ZNF320	162967	broad.mit.edu	37	19	53384195	53384195	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:53384195delC	uc002qag.2	-	4	1375	c.1184delG	c.(1183-1185)AGTfs	p.S395fs	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Frame_Shift_Del_p.S341fs|ZNF320_uc002qai.2_Frame_Shift_Del_p.S395fs	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	395	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		CGCTTTTGTACTAAAAACCTT	0.403													38	104	---	---	---	---					
