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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KCNH5	27133	broad.mit.edu	37	14	63269245	63269245	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr14:63269245G>A	uc001xfx.3	-	8	1675	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	KCNH5_uc001xfy.3_Missense_Mutation_p.R542W|KCNH5_uc001xfz.1_Missense_Mutation_p.R484W	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	542					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R542R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAACCTTCCGGTTTAGATGA	0.493000														62			5		0	0	0.001984	0	0
PRDM10	56980	broad.mit.edu	37	11	129817095	129817095	+	Silent	SNP	C	T	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:129817095C>T	uc001qfm.3	-	4	697	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_uc001qfj.3_Silent_p.T69T|PRDM10_uc001qfk.3_Silent_p.T69T|PRDM10_uc001qfl.3_Silent_p.T69T|PRDM10_uc010sbx.2_Silent_p.T69T|PRDM10_uc001qfn.3_Silent_p.T155T|PRDM10_uc009zct.1_Silent_p.T187T	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T155T(2)|p.T155M(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CATCCAGATCCGTGTCCTCAC	0.597000														64			25		0	0	0.005443	0	0
TRIO	7204	broad.mit.edu	37	5	14406753	14406753	+	Missense_Mutation	SNP	C	T	T	rs55687522		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:14406753C>T	uc003jff.3	+	32	4937	c.4931C>T	c.(4930-4932)aCg>aTg	p.T1644M	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.T1293M	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1644			T -> M (in dbSNP:rs55687522).		apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.T1644M(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTCACGGACGTCTCAGAAC	0.567000														66			31		0	0	0.010818	0	0
DNAH11	8701	broad.mit.edu	37	7	21639635	21639635	+	Silent	SNP	G	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:21639635G>A	uc003svc.3	+	14	2929	c.2898G>A	c.(2896-2898)ggG>ggA	p.G966G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	966	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAGGCTGGGGATGGCTTCT	0.393000									Kartagener syndrome					46			4		0	0	0.009096	0	0
CELSR2	1952	broad.mit.edu	37	1	109805553	109805553	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:109805553A>G	uc001dxa.4	+	6	4731	c.4670A>G	c.(4669-4671)gAc>gGc	p.D1557G		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1557	Laminin G-like 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCACATAGACATGGCTGAC	0.647000														30			3		0	0	0.001168	0	0
CADPS2	93664	broad.mit.edu	37	7	122130306	122130306	+	Missense_Mutation	SNP	C	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:122130306C>A	uc022akp.1	-	10	2103	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S	CADPS2_uc003vkg.4_Missense_Mutation_p.A261S|CADPS2_uc022akq.1_Missense_Mutation_p.A561S|CADPS2_uc010lkq.3_Missense_Mutation_p.A561S|CADPS2_uc022akr.1_Missense_Mutation_p.A561S	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	561	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTTAACAGCATTAAAGAAC	0.378000														160			16		2.94398e-08	3.18268e-08	0.007413	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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 -> 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).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									43			21		0	0	0.021523	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19764444	19764444	+	Missense_Mutation	SNP	T	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:19764444T>A	uc004czm.3	-	2	594	c.278A>T	c.(277-279)aAt>aTt	p.N93I	SH3KBP1_uc004czl.3_Missense_Mutation_p.N56I	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	93					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACCTCTCTTATTGGTTCTTAA	0.423000														75			55		0	0	0.014410	0	0
BAX	581	broad.mit.edu	37	19	49459501	49459501	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:49459501C>T	uc002plk.3	+	3	349	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BAX_uc002plf.1_Nonsense_Mutation_p.R94*|BAX_uc002plg.1_Nonsense_Mutation_p.R57*|BAX_uc002plh.1_Nonsense_Mutation_p.R16*|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Nonsense_Mutation_p.R94*|BAX_uc002pll.3_Nonsense_Mutation_p.R45*|BAX_uc002plm.3_Nonsense_Mutation_p.R16*	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	94					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.R94*(2)|p.F93L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GGTCTTTTTCCGAGTGGCAGC	0.587000														79			10		0	0	0.008291	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	A	A	rs143742734	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:12921405G>A	uc001aum.1	+	3	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557000														106			7		0	0	0.004482	0	0
RREB1	6239	broad.mit.edu	37	6	7240706	7240706	+	Missense_Mutation	SNP	T	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr6:7240706T>A	uc003mxb.3	+	10	4336	c.3844T>A	c.(3844-3846)Ttc>Atc	p.F1282I	RREB1_uc021yky.1_Intron|RREB1_uc003mxc.3_Intron|RREB1_uc010jnx.3_Missense_Mutation_p.F1282I|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1272					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGCGATGCCTTCTTTTCTAC	0.423000														92			31		0	0	0.019004	0	0
DOCK8	81704	broad.mit.edu	37	9	289509	289509	+	Splice_Site	SNP	G	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr9:289509G>A	uc003zgf.2	+	4	445	c.333_splice	c.e4-1	p.G111_splice	DOCK8_uc011lls.1_Splice_Site_p.G111_splice|DOCK8_uc022bcu.1_Splice_Site_p.G43_splice|DOCK8_uc010mgv.3_Splice_Site_p.G43_splice|DOCK8_uc010mgu.3_Splice_Site|DOCK8_uc010mgt.3_Splice_Site_p.G43_splice|DOCK8_uc003zgg.3_Splice_Site_p.G43_splice|DOCK8_uc022bct.1_Splice_Site	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	111					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACCTCATTAGGGTTGAACTG	0.388000														30			4		0	0	0.014758	0	0
AEBP1	165	broad.mit.edu	37	7	44153669	44153669	+	Missense_Mutation	SNP	G	A	A	rs146155697		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:44153669G>A	uc003tkb.3	+	20	3591	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K	AEBP1_uc003tkc.4_Missense_Mutation_p.E671K|AEBP1_uc003tkd.3_Missense_Mutation_p.E346K	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	1096	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTTGGGACCGAGGTGGAGCC	0.597000														53			4		0	0	0.014758	0	0
CRLF3	51379	broad.mit.edu	37	17	29112983	29112983	+	Silent	SNP	T	C	C			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr17:29112983T>C	uc002hfr.4	-	6	1135	c.1026A>G	c.(1024-1026)ggA>ggG	p.G342G	CRLF3_uc010wbr.2_Silent_p.G226G	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	342					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of JAK-STAT cascade|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GAGAGTCATATCCATCCTGTT	0.363000														104			12		0	0	0.016723	0	0
CTNNA2	1496	broad.mit.edu	37	2	80808942	80808942	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:80808942C>T	uc010ysh.2	+	12	2010	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	CTNNA2_uc010yse.2_Missense_Mutation_p.R669W|CTNNA2_uc010ysf.2_Missense_Mutation_p.R669W|CTNNA2_uc010ysg.2_Missense_Mutation_p.R669W|CTNNA2_uc010ysi.2_Missense_Mutation_p.R301W	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	669					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R669W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAGCGCACGGGTGAGTGG	0.493000														30			20		0	0	0.008871	0	0
LOC650368	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	C	C			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:3427765G>C	uc010qxs.1	+	8		c.758G>C			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CACACGTCCTGCAGTGGCCTG	0.602000														59			4		0	0	0.009096	0	0
WDR44	54521	broad.mit.edu	37	X	117527112	117527112	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:117527112G>A	uc004eqn.3	+	3	1135	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_uc004eqo.3_Missense_Mutation_p.R235H|WDR44_uc011mtr.2_Missense_Mutation_p.R210H|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	235	Pro-rich.					Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522000														191			91		0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	T	T	rs144465613	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr14:23887583C>T	uc001wjx.3	-	29	4111	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(6)|p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000														45			4		0	0	0.001984	0	0
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr6:111346773T>A	uc003pun.3	+	9	928	c.909T>A	c.(907-909)atT>atA	p.I303I	RPF2_uc003puo.3_Silent_p.I240I	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.	303						nucleolus	protein binding	p.I303I(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368000														22			8		0	0	0.004482	0	0
ARL13B	200894	broad.mit.edu	37	3	93714764	93714764	+	Missense_Mutation	SNP	G	A	A	rs139780924	by1000genomes	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:93714764G>A	uc003drc.3	+	1	391	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ARL13B_uc010hop.3_Silent_p.P5P|ARL13B_uc003drf.3_Missense_Mutation_p.A36T|ARL13B_uc003drg.3_Intron|ARL13B_uc003drd.3_Intron|ARL13B_uc003dre.3_5'UTR	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	36							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TGGTAAAACCGCAACAGCAAA	0.299000														22			13		0	0	0.020292	0	0
ZNF579	163033	broad.mit.edu	37	19	56090218	56090218	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:56090218G>A	uc002qlh.3	-	1	841	c.788C>T	c.(787-789)cCc>cTc	p.P263L	ZNF579_uc021vby.1_Missense_Mutation_p.P263L	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GCGTGGCGGGGGCCCCCCTTC	0.716000														3			5		0	0	0.014758	0	0
NWD1	284434	broad.mit.edu	37	19	16874671	16874671	+	Silent	SNP	G	A	A	rs117965437	by1000genomes	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:16874671G>A	uc002neu.4	+	8	2588	c.2166G>A	c.(2164-2166)acG>acA	p.T722T	NWD1_uc002net.4_Silent_p.T587T|NWD1_uc002nev.4_Silent_p.T516T|NWD1_uc021uqg.1_Silent_p.T587T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	722							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCACATACGGTTGCAAACC	0.592000														57			4		0	0	0.014758	0	0
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	-	-			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													---	5	---	---	3	---					
MUC2	4583	broad.mit.edu	37	11	1103827	1103827	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:1103827delC	uc001lsx.1	+	49	8141	c.8114delC	c.(8113-8115)accfs	p.T2705fs		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5071						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCAATGAGACCAGGGTGCCC	0.672													---	4	---	---	2	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	-	-	rs1065065		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:64888248_64888250delTCT	uc001ocx.3	-	4	424_426	c.305_307delAGA	c.(304-309)aagaca>aca	p.K102del	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	0								p.K101K(1)		NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													---	147	---	---	8	---					
