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
ADAMTSL4	54507	broad.mit.edu	37	1	150531779	150531779	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:150531779G>A	uc001eux.2	+	17	3016	c.2780G>A	c.(2779-2781)GGC>GAC	p.G927D	ADAMTSL4_uc009wlw.2_Missense_Mutation_p.G950D|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.G888D|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.G90D	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	927	TSP type-1 5.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCGAATGTGGCTCTGGCACA	0.592000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414640	213414640	+	Silent	SNP	T	C	C			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:213414640T>C	uc010ptr.1	+	11	1980	c.1821T>C	c.(1819-1821)GAT>GAC	p.D607D	RPS6KC1_uc001hkd.2_Silent_p.D595D|RPS6KC1_uc010pts.1_Silent_p.D395D|RPS6KC1_uc010ptt.1_Silent_p.D395D|RPS6KC1_uc010ptu.1_Silent_p.D426D|RPS6KC1_uc010ptv.1_Silent_p.D142D|RPS6KC1_uc001hke.2_Silent_p.D426D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	607					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAGTAAGGATAGCGCAAGTG	0.408000													19	54					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602531	5602531	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:5602531A>G	uc010qzi.1	+	1	425	c.425A>G	c.(424-426)TAT>TGT	p.Y142C	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	142	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGACCGCTATGTGGCCATC	0.512000													49	78					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861581	55861581	+	Silent	SNP	G	A	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:55861581G>A	uc010rix.1	+	1	798	c.798G>A	c.(796-798)TCG>TCA	p.S266S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					ACACATCATCGCTGACCCAGG	0.468000													7	89					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94602475	94602475	+	Silent	SNP	C	T	T	rs147218652	by1000genomes	TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:94602475C>T	uc001pfb.2	+	12	2771	c.2601C>T	c.(2599-2601)CAC>CAT	p.H867H	AMOTL1_uc001pfc.2_Silent_p.H817H	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	867						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCAGTGCCCACGCCAAGACAG	0.652000													4	7					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46766546	46766546	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:46766546C>T	uc002eei.3	-	4	1152	c.1036G>A	c.(1036-1038)GGG>AGG	p.G346R	MYLK3_uc010vge.1_Missense_Mutation_p.G5R|MYLK3_uc002eej.1_Missense_Mutation_p.G5R	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	346					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCATCTCCCCAGGAGTATCC	0.453000													8	12					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81927341	81927341	+	Silent	SNP	C	T	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:81927341C>T	uc002fgt.2	+	12	1166	c.1014C>T	c.(1012-1014)AGC>AGT	p.S338S	PLCG2_uc010chg.1_Silent_p.S338S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	338	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AGCTGCGGAGCGAGTCGTCCC	0.617000													4	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:7577142C>T	uc002gim.2	-	8	990	c.796G>A	c.(796-798)GGA>AGA	p.G266R	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	266	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (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.G266E(45)|p.G266R(42)|p.G266V(31)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		CTGTTCCGTCCCAGTAGATTA	0.517000		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)			17	4					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78117984	78117984	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:78117984C>G	uc010wuc.1	-	3	302	c.229G>C	c.(229-231)GAT>CAT	p.D77H	EIF4A3_uc002jxs.2_Missense_Mutation_p.D77H	NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	77	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GCGATGACATCTCTCCCTTTG	0.473000													5	63					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	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 								27	45					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267764	46267764	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr20:46267764C>G	uc002xtk.2	+	14	2730	c.2525C>G	c.(2524-2526)TCA>TGA	p.S842*	NCOA3_uc010ght.1_Nonsense_Mutation_p.S852*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.S842*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.S842*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.S842*|NCOA3_uc010zyc.1_Nonsense_Mutation_p.S637*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	842					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TTGAAAAGTTCACAGTCTGTG	0.388000													40	59					0	0	1	0	0
POLR3H	171568	broad.mit.edu	37	22	41936719	41936719	+	Silent	SNP	G	A	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr22:41936719G>A	uc003baf.2	-	3	252	c.192C>T	c.(190-192)GGC>GGT	p.G64G	POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.G64G|POLR3H_uc003bai.2_Silent_p.G64G|POLR3H_uc003baj.1_Silent_p.G64G	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	64					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			skin(1)	1						TGTGTGATGCGCCATCCCCAG	0.473000													29	60					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860812	13860812	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:13860812C>T	uc003bye.1	-	4	984	c.679G>A	c.(679-681)GTG>ATG	p.V227M		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	227					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						TCCTTGAGCACGTAGCCCAGC	0.587000													13	60					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725264	31725264	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:31725264C>T	uc003cev.2	-	9	1969	c.1588G>A	c.(1588-1590)GCT>ACT	p.A530T	OSBPL10_uc003ceu.1_Missense_Mutation_p.A287T|OSBPL10_uc011axf.1_Missense_Mutation_p.A466T	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	530					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTGCTCAGCCACAAACCTT	0.527000													8	93					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108216948	108216948	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:108216948A>G	uc003dxa.1	-	7	686	c.629T>C	c.(628-630)ATC>ACC	p.I210T		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	210	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AAAATACTGGATAATATGTTT	0.403000													55	96					0	0	1	0	0
MED28	80306	broad.mit.edu	37	4	17616285	17616285	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr4:17616285C>T	uc003gpi.1	+	1	20	c.8C>T	c.(7-9)GCT>GTT	p.A3V	MED28_uc003gpj.2_RNA	NM_025205	NP_079481	Q9H204	MED28_HUMAN	mediator complex subunit 28	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding				0						AACATGGCGGCTCCACTAGGG	0.652000													16	23					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6145947	6145947	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr6:6145947C>T	uc003mwv.2	-	15	2227	c.2104G>A	c.(2104-2106)GGG>AGG	p.G702R	F13A1_uc011dib.1_Silent_p.L595L	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	702					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCGATGCCCAGAGACCCAG	0.547000													17	76					0	0	1	0	0
VDAC3	7419	broad.mit.edu	37	8	42257212	42257212	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:42257212C>T	uc011lct.1	+	6	457	c.314C>T	c.(313-315)CCG>CTG	p.P105L	VDAC3_uc010lxk.2_Intron|VDAC3_uc003xpc.2_Missense_Mutation_p.P106L	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform b	105					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			upper_aerodigestive_tract(1)	1	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATATTTGTACCGAACACAGGG	0.338000													12	24					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128124938	128124938	+	Silent	SNP	T	C	C			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:128124938T>C	uc010mwx.2	+	28	4676	c.4350T>C	c.(4348-4350)GCT>GCC	p.A1450A	GAPVD1_uc004bpp.2_Silent_p.A1459A|GAPVD1_uc004bpq.2_Silent_p.A1432A|GAPVD1_uc004bpr.2_Silent_p.A1411A|GAPVD1_uc004bps.2_Silent_p.A1405A|GAPVD1_uc004bpt.2_Silent_p.A465A	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1450	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCTTTTATGCTAGCTGTCTGT	0.418000													48	85					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129854133	129854133	+	Silent	SNP	C	G	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:129854133C>G	uc004bqr.1	-	4	1598	c.1098G>C	c.(1096-1098)CTG>CTC	p.L366L	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Silent_p.L64L	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	366	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0						CCATGGTCACCAGGAGTTTGT	0.552000													92	198					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	G	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:141071110A>G	uc004com.2	+	4	774	c.513A>G	c.(511-513)CCA>CCG	p.P171P	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						TGCGCTTCCCAGGCCAGCTGA	0.597000													5	57					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39934221	39934221	+	Silent	SNP	C	G	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:39934221C>G	uc004den.3	-	4	670	c.378G>C	c.(376-378)CCG>CCC	p.P126P	BCOR_uc004dep.3_Silent_p.P126P|BCOR_uc004deo.3_Silent_p.P126P|BCOR_uc004dem.3_Silent_p.P126P|BCOR_uc004deq.3_Silent_p.P126P	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	126					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CGGGTGTATTCGGTTTGAACT	0.507000													15	11					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	-	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:152128277_152128280delTGTC	uc001ezs.1	-	3	1360_1363	c.1295_1298delGACA	c.(1294-1299)AGACAAfs	p.R432fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	432_433	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													7	1154	---	---	---	---					
NUMBL	9253	broad.mit.edu	37	19	41173875	41173877	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr19:41173875_41173877delTGC	uc002oon.2	-	10	1494_1496	c.1326_1328delGCA	c.(1324-1329)CAGCAA>CAA	p.442_443QQ>Q	NUMBL_uc010xvq.1_In_Frame_Del_p.401_402QQ>Q|NUMBL_uc002ooo.2_In_Frame_Del_p.441_442QQ>Q|NUMBL_uc010xvr.1_In_Frame_Del_p.401_402QQ>Q	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	442_443	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ttgctgctgttgctgctgctgct	0.463													3	6	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr6:71508370delA	uc003pfr.2	+	6	754	c.506delA	c.(505-507)GAAfs	p.E169fs	SMAP1_uc011dxy.1_RNA|SMAP1_uc003pfs.2_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.2_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.2_Frame_Shift_Del_p.E159fs	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0						aaagaaaaggaaaaaaaaaag	0.234													2	4	---	---	---	---					
MKLN1	4289	broad.mit.edu	37	7	131113796	131113799	+	Frame_Shift_Del	DEL	TGTT	-	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr7:131113796_131113799delTGTT	uc011kpm.1	+	9	916_919	c.852_855delTGTT	c.(850-855)ACTGTTfs	p.T284fs	MKLN1_uc011kpl.1_Frame_Shift_Del_p.T261fs|MKLN1_uc010lmh.2_Frame_Shift_Del_p.T284fs|MKLN1_uc003vqs.2_Frame_Shift_Del_p.T77fs	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	284_285	Kelch 1.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					TCATAGAGACTGTTTATTTGTTTG	0.402													20	49	---	---	---	---					
PCM1	5108	broad.mit.edu	37	8	17867095	17867096	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:17867095_17867096delTG	uc003wyi.3	+	31	5424_5425	c.5002_5003delTG	c.(5002-5004)TGTfs	p.C1668fs	PCM1_uc011kyh.1_Frame_Shift_Del_p.C1660fs|PCM1_uc003wyj.3_Frame_Shift_Del_p.C1614fs|PCM1_uc011kyi.1_Frame_Shift_Del_p.C467fs|PCM1_uc011kyj.1_Frame_Shift_Del_p.C424fs|PCM1_uc003wyk.3_Frame_Shift_Del_p.C350fs|PCM1_uc011kyk.1_Frame_Shift_Del_p.C284fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1668	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		ACTGAAAGACTGTGGAGAAGAT	0.287			T	RET|JAK2	papillary thyroid|CML|MPD								4	9	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	-	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:76937477_76937480delTCTC	uc004ecp.3	-	9	3500_3503	c.3268_3271delGAGA	c.(3268-3273)GAGAAGfs	p.E1090fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.E1052fs|ATRX_uc004eco.3_Frame_Shift_Del_p.E875fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E1022fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E1061fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E1035fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1090_1091					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CACCTTTTCTTCTCTCTACCATAT	0.377			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						114	74	---	---	---	---					
