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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C20orf194	25943	broad.mit.edu	37	20	3236735	3236735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:3236735G>A	uc002wii.2	-	33	3229	c.3178C>T	c.(3178-3180)Cag>Tag	p.Q1060*	C20orf194_uc002wij.3_Nonsense_Mutation_p.Q799*|C20orf194_uc002wik.2_Nonsense_Mutation_p.Q734*	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	1060										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CACTCCTGCTGCCCGCTGCTG	0.557000													9	70					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12421382	12421382	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:12421382C>G	uc003bwx.3	+	1	353	c.262C>G	c.(262-264)Cca>Gca	p.P88A	PPARG_uc003bwr.3_Missense_Mutation_p.P60A|PPARG_uc003bws.3_Missense_Mutation_p.P60A|PPARG_uc003bwu.3_Missense_Mutation_p.P60A|PPARG_uc003bwv.3_Missense_Mutation_p.P60A|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.P60A|PPARG_uc003bww.1_Missense_Mutation_p.P88A	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	88					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGAACAGATCCAGTGGTTGC	0.398000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						29	79					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194181443	194181443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:194181443C>T	uc003fty.4	-	2	571	c.169G>A	c.(169-171)Gcg>Acg	p.A57T		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	57					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACACAGGTCGCTTTCACCCGC	0.448000													30	58					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:178936095A>C	uc003fjk.3	+	9	1794	c.1637A>C	c.(1636-1638)cAg>cCg	p.Q546P		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(96)|p.Q546K(94)|p.E545G(79)|p.Q546R(58)|p.Q546P(33)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546E(12)|p.Q546L(11)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	25					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181708361	181708361	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:181708361G>A	uc009wxt.3	+	24	3886	c.3691G>A	c.(3691-3693)Gtt>Att	p.V1231I	CACNA1E_uc001gow.3_Missense_Mutation_p.V1231I|CACNA1E_uc009wxs.3_Missense_Mutation_p.V1212I|CACNA1E_uc001gox.1_Missense_Mutation_p.V457I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1231	Poly-Val.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGTGGTCGTTGGCGCATT	0.502000													55	93					0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917410	11917410	+	Silent	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:11917410G>A	uc002mso.1	+	2	927	c.642G>A	c.(640-642)ccG>ccA	p.P214P	ZNF491_uc021upj.1_Silent_p.P214P	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P214P(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAGAGAAGCCGTACAAATGTA	0.423000													3	39					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47700424	47700424	+	Silent	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr21:47700424G>A	uc002zir.1	-	2	1545	c.1509C>T	c.(1507-1509)caC>caT	p.H503H		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	503					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTTCTTCCTGTGCCAAAAGA	0.363000													29	45					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92973307	92973307	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:92973307T>G	uc002bra.3	+	1	282	c.127T>G	c.(127-129)Tca>Gca	p.S43A	ST8SIA2_uc002brb.3_Intron	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	43					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACAATCAGATCAGCTGTGAA	0.388000													21	29					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043126	184043126	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:184043126C>T	uc003fnp.3	+	18	3197	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	EIF4G1_uc003fno.2_Missense_Mutation_p.R917C|EIF4G1_uc010hxw.2_Missense_Mutation_p.R812C|EIF4G1_uc010hxx.3_Missense_Mutation_p.R983C|EIF4G1_uc003fnt.3_Missense_Mutation_p.R687C|EIF4G1_uc010hxy.3_Missense_Mutation_p.R983C|EIF4G1_uc003fnq.3_Missense_Mutation_p.R889C|EIF4G1_uc003fnr.3_Missense_Mutation_p.R812C|EIF4G1_uc003fns.3_Missense_Mutation_p.R936C|EIF4G1_uc003fnv.4_Missense_Mutation_p.R977C|EIF4G1_uc003fnw.3_Missense_Mutation_p.R983C|EIF4G1_uc003fnx.3_Missense_Mutation_p.R781C|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	976	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCGCATCCGCTTTATGCT	0.527000													40	70					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46499563	46499563	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:46499563G>C	uc001cov.3	+	26	3910	c.3627G>C	c.(3625-3627)aaG>aaC	p.K1209N	MAST2_uc001cow.3_Missense_Mutation_p.K1209N|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1209					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAAGGCCAAGATGGCCCGAA	0.572000													14	21					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:155719190C>T	uc003ioo.3	+	2	552	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	127	RRM 1.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338000													18	50					0	0	1	0	0
RP9	6100	broad.mit.edu	37	7	33139017	33139017	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:33139017G>C	uc003tdm.3	-	2	233	c.215C>G	c.(214-216)cCa>cGa	p.P72R		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.	72	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P72R(4)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TGGTACATCTGGTATGCAATC	0.483000													5	120					0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42742995	42742995	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:42742995G>A	uc001zpw.3	-	1	1733	c.1406C>T	c.(1405-1407)cCa>cTa	p.P469L	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.P252L|ZFP106_uc001zpy.1_Missense_Mutation_p.P492L	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	469						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GATATTCTTTGGATCTTGCTT	0.398000													66	159					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	133087087	133087087	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:133087087C>T	uc010nrn.2	-	1	524	c.327G>A	c.(325-327)gcG>gcA	p.A109A	GPC3_uc004exe.2_Silent_p.A109A|GPC3_uc011mvh.2_Intron|GPC3_uc010nro.2_Intron|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	109						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGGAAAACCGCAGCATTCT	0.378000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				70	154					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746124	140746124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:140746124G>A	uc003lju.2	+	0	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.V743M	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	753					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGATGGGGT	0.632000													56	83					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55214348	55214348	+	Silent	SNP	C	C	T	rs2072454	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:55214348C>T	uc003tqk.3	+	3	720	c.474C>T	c.(472-474)aaC>aaT	p.N158N	EGFR_uc003tqh.3_Silent_p.N158N|EGFR_uc003tqi.3_Silent_p.N158N|EGFR_uc003tqj.3_Silent_p.N158N|EGFR_uc022adm.1_Silent_p.N158N|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Silent_p.N105N	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	158					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.N158N(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCTGTGCAACGTGGAGAGCA	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			13	72					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996473	140996473	+	Missense_Mutation	SNP	G	G	A	rs147835720		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:140996473G>A	uc004fbt.3	+	3	3607	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	MAGEC1_uc010nsl.2_Missense_Mutation_p.V162I|MAGEC1_uc022cfi.1_Missense_Mutation_p.V754I	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1095	MAGE.						protein binding	p.T1094T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAATACCGTCCCTATTAC	0.453000										HNSCC(15;0.026)			10	198					0	0	1	0	0
C20orf79	140856	broad.mit.edu	37	20	18794627	18794627	+	Silent	SNP	G	G	A	rs143971555		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:18794627G>A	uc002wrk.3	+	0	258	c.168G>A	c.(166-168)agG>agA	p.R56R	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	56	SCP2.						sterol binding	p.R56R(2)|p.R56M(1)		NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						TTCACATCAGGGAAGTGGGAG	0.478000													22	42					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851148	43851148	+	Missense_Mutation	SNP	G	G	A	rs145586123		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:43851148G>A	uc010ggz.3	+	1	932	c.875G>A	c.(874-876)cGt>cAt	p.R292H	SEMG2_uc002xnk.3_Missense_Mutation_p.R292H|SEMG2_uc002xnl.3_Missense_Mutation_p.R292H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292H(2)|p.R292L(2)|p.R292S(1)|p.S291P(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCGTCTTCACGTACAGAAGAA	0.398000													30	59					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418954	48418954	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:48418954C>G	uc011mmb.1	+	5	1756	c.1670C>G	c.(1669-1671)tCc>tGc	p.S557C	TBC1D25_uc004dka.1_Missense_Mutation_p.S553C|TBC1D25_uc011mly.1_Missense_Mutation_p.S495C|TBC1D25_uc004dkb.1_Missense_Mutation_p.S299C|TBC1D25_uc011mlz.1_Missense_Mutation_p.S299C|TBC1D25_uc011mma.1_Missense_Mutation_p.S299C|TBC1D25_uc004dkc.1_Missense_Mutation_p.S299C|TBC1D25_uc011mmd.1_Missense_Mutation_p.S299C|TBC1D25_uc011mmc.1_Missense_Mutation_p.S299C	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	553						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTGCTCTCCTCCTTTTCCCAC	0.582000													68	101					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75574125	75574125	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:75574125C>T	uc001xrl.3	-	10	1402	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q	NEK9_uc001xrk.3_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	416					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CATGCTTTGGCTGTCGATAGG	0.453000													13	33					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900448	50900448	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:50900448A>T	uc003blh.3	-	19	2692	c.2497T>A	c.(2497-2499)Ttt>Att	p.F833I	SBF1_uc011arx.2_Missense_Mutation_p.F497I|SBF1_uc003bli.2_Missense_Mutation_p.F834I	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	833					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTGTCCACAAAGCGGTTGATG	0.622000													42	80					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139149434	139149434	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr8:139149434G>T	uc003yuy.3	-	18	4142	c.3971C>A	c.(3970-3972)gCc>gAc	p.A1324D	FAM135B_uc003yux.3_Missense_Mutation_p.A1225D|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1324								p.A1324A(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCAATCCTGGCTGAATGAAA	0.388000										HNSCC(54;0.14)			37	54					4.32679e-17	4.60594e-17	1	1	0
NOS3	4846	broad.mit.edu	37	7	150704320	150704320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:150704320G>A	uc003wif.3	+	16	2364	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	NOS3_uc011kuy.2_Missense_Mutation_p.G484S	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	690	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGAGCTGTGCGGCCAGGAGGA	0.706000													10	47					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10707679	10707679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr6:10707679G>A	uc003mzg.3	+	7	803	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	Homo sapiens PAK1 interacting protein 1 (PAK1IP1), mRNA.	258					negative regulation of signal transduction	nucleolus|plasma membrane		p.E258Q(2)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGAAATTCCAGAGCATCATGT	0.328000													38	125					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585278	43585278	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:43585278A>T	uc002ovr.3	-	1	357	c.185T>A	c.(184-186)cTt>cAt	p.L62H	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	62	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAGCCAGTAAGATTCTGGGG	0.453000													64	158					0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532336	22532336	+	Missense_Mutation	SNP	T	T	C	rs149580813	by1000genomes	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:22532336T>C	uc010kum.2	-	3	810	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	STEAP1B_uc003svh.3_Missense_Mutation_p.K185E	NM_001164460	NP_001157932	Q6NZ63	STEAL_HUMAN	Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA.	185						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						GCATCTTCTTTATTTTGTTGG	0.408000													5	116					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853813	122853813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:122853813G>T	uc003ieg.2	-	1	674	c.600C>A	c.(598-600)ttC>ttA	p.F200L	TRPC3_uc010inr.2_Missense_Mutation_p.F127L|TRPC3_uc003ief.2_Missense_Mutation_p.F127L|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	115					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTGGCCGCGAAGCCAGGGT	0.637000													12	33					2.27111e-07	2.36674e-07	1	1	0
NF1	4763	broad.mit.edu	37	17	29654857	29654857	+	Splice_Site	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:29654857G>A	uc002hgg.3	+	38	5992	c.5609_splice	c.e38+1	p.R1870_splice	NF1_uc002hgh.3_Splice_Site_p.R1849_splice|NF1_uc002hgi.1_Splice_Site_p.R882_splice|NF1_uc010cso.3_Splice_Site_p.R58_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1870					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.S1871fs*13(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTT	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	43					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976872	55976872	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:55976872C>T	uc003has.3	-	7	1342	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	KDR_uc003hat.1_Missense_Mutation_p.R347H|KDR_uc011bzx.2_Missense_Mutation_p.R347H	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	347	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R347H(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATTCTGACACGCTCCCCCAC	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	105					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													5	29					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122747329	122747329	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:122747329G>C	uc004etu.3	-	35	4630	c.4598C>G	c.(4597-4599)tCa>tGa	p.S1533*	THOC2_uc004etv.4_5'Flank|THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Nonsense_Mutation_p.S354*	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1533	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGAAGATTTTGACTTATTTTT	0.323000													35	65					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57746287	57746287	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:57746287A>C	uc002ixr.1	+	13	2733	c.2290A>C	c.(2290-2292)Aag>Cag	p.K764Q	CLTC_uc002ixp.3_Missense_Mutation_p.K760Q|CLTC_uc002ixq.1_Missense_Mutation_p.K760Q	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	760	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGAGCGAGTCAAGAATTTTCT	0.373000			T	"""ALK, TFE3"""	"""ALCL, renal """								5	72					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139354230	139354230	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr9:139354230C>G	uc004chx.3	-	14	5479	c.5170G>C	c.(5170-5172)Gct>Cct	p.A1724P	SEC16A_uc004chu.3_5'Flank|SEC16A_uc004chv.4_Missense_Mutation_p.A1114P|SEC16A_uc004chw.3_Missense_Mutation_p.A1724P|SEC16A_uc010nbn.3_Missense_Mutation_p.A1724P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1546					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCATGGTAGCCATCGTCCTG	0.587000													5	5					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415522	105415522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:105415522G>A	uc010axc.1	-	6	6386	c.6266C>T	c.(6265-6267)cCc>cTc	p.P2089L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1989L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2089						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGGGGCCCTTGAG	0.617000													70	158					0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62193043	62193043	+	Silent	SNP	A	A	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:62193043A>G	uc002yfm.2	-	12	7639	c.6747T>C	c.(6745-6747)gcT>gcC	p.A2249A	PRIC285_uc002yfl.1_Silent_p.A1680A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2249					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTGGCCTCAGCCTGCTCAC	0.662000													3	35					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94947701	94947701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:94947701G>A	uc003uns.3	-	1	176	c.79C>T	c.(79-81)Cga>Tga	p.R27*	PON1_uc011kih.2_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	27					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.R27*(2)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCATTAAGTCGTGTTCTGTGG	0.388000													7	92					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152978	8152978	+	Silent	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:8152978G>A	uc002mjf.3	-	50	6479	c.6462C>T	c.(6460-6462)gaC>gaT	p.D2154D	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2154	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCTCAAAGCCGTCAGCACAGG	0.617000													29	52					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098329	50098329	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:50098329A>G	uc002poo.4	+	3	737	c.737A>G	c.(736-738)aAc>aGc	p.N246S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	32	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACTCAGTTCAACCTGCTGGCT	0.697000													5	14					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274235	39274235	+	Silent	SNP	G	G	A	rs11654403	by1000genomes	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:39274235G>A	uc002hvz.3	-	0	372	c.333C>T	c.(331-333)cgC>cgT	p.R111R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	111	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R111R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagctggggcgacagcagc	0.652000													4	49					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr12:9304243C>T	uc001qvl.3	-	32	4267	c.4238G>A	c.(4237-4239)cGg>cAg	p.R1413Q	PZP_uc009zgl.3_Missense_Mutation_p.R1199Q	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACTTCTGTCCGGCTCACAGA	0.443000													4	40					0	0	1	0	0
CTLA4	1493	broad.mit.edu	37	2	204732687	204732687	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:204732687C>T	uc002vak.2	+	0	177	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	CTLA4_uc002val.2_Missense_Mutation_p.R8W|CTLA4_uc010fty.2_Missense_Mutation_p.R8W|CTLA4_uc010ftz.2_Non-coding_Transcript	NM_005214	NP_005205	P16410	CTLA4_HUMAN	Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.	8					B cell receptor signaling pathway|T cell costimulation|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus	Golgi apparatus|clathrin-coated endocytic vesicle|external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TGGATTTCAGCGGCACAAGGC	0.498000													5	33					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134158762	134158762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:134158762C>A	uc009zdf.3	+	6	1067	c.707C>A	c.(706-708)aCa>aAa	p.T236K	GLB1L3_uc010scs.2_Missense_Mutation_p.T236K|GLB1L3_uc010sct.2_Missense_Mutation_p.T88K	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	236					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAGGATAAAACATACATGCCG	0.498000													3	32					0.004672	0.004672	1	1	0
KCNJ18	100134444	broad.mit.edu	37	17	21319552	21319552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:21319552G>A	uc021tss.1	+	2	1268	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	KCNJ18_uc002gyv.1_Missense_Mutation_p.E300K|KCNJ18_uc021tst.1_Missense_Mutation_p.E300K	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	300						integral to membrane	inward rectifier potassium channel activity										GGTCATCCTGGAAGGCATGGT	0.617000													8	89					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875258	96875258	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:96875258C>T	uc001yfn.2	+	3	522	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	160					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GACTTGGGCGCGCTCCAAAGC	0.473000													12	28					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													5	35					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130650	117130650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr6:117130650C>T	uc003pxj.1	-	1	347	c.325G>A	c.(325-327)Gca>Aca	p.A109T	GPRC6A_uc003pxk.1_Missense_Mutation_p.A109T|GPRC6A_uc003pxl.1_Missense_Mutation_p.A109T	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	109					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCTGCCATTGCCACTGTGACT	0.428000													15	23					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75574067	75574067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:75574067C>T	uc001xrl.3	-	10	1460	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	NEK9_uc001xrk.3_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	436					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ACAGTGAAATCATCACCACAT	0.468000													30	51					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1316242	1316242	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:1316242C>G	uc003gda.3	+	3	560	c.530C>G	c.(529-531)aCc>aGc	p.T177S	MAEA_uc010ibs.1_Intron|MAEA_uc003gdd.3_Intron|MAEA_uc003gdb.3_Intron|MAEA_uc011bvb.2_Missense_Mutation_p.T109S|MAEA_uc003gdc.3_Intron|MAEA_uc011bvc.2_Missense_Mutation_p.T176S|MAEA_uc011bvd.2_Missense_Mutation_p.T129S|MAEA_uc010ibt.3_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	177	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAGACGGCCACCTGCCTGGCC	0.617000													16	75					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417301	54417301	+	Missense_Mutation	SNP	G	G	A	rs140590144	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:54417301G>A	uc001xal.4	-	2	863	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	BMP4_uc010aoh.3_Missense_Mutation_p.R226W|BMP4_uc001xao.4_Missense_Mutation_p.R226W|BMP4_uc001xan.4_Missense_Mutation_p.R226W	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	226			R -> W.		BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCTTCTCCCGGGTCCAGCGA	0.572000													6	118					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103411604	103411604	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:103411604C>T	uc004elw.3	+	0	449	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	46								p.F46F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCAGCGACTTCGGCTGCCAGC	0.657000													4	37					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179319235	179319235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:179319235C>T	uc002umi.4	+	2	744	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.L130F	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	130					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAACATTACTCAAAGAAAT	0.308000													18	17					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97355890	97355890	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr9:97355890G>A	uc004auv.3	-	0	186	c.119C>T	c.(118-120)aCg>aTg	p.T40M		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	40					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TTTGATGGCCGTCAGCATTGA	0.632000													15	20					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													4	11					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19751547	19751547	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr18:19751547T>A	uc002ktt.1	+	1	707	c.442T>A	c.(442-444)Tac>Aac	p.Y148N	GATA6_uc002ktu.1_Missense_Mutation_p.Y148N	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	148					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGAGGAGATGTACCAGACCCT	0.736000													14	24					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712556	32712556	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:32712556A>T	uc003jhv.3	+	0	1119	c.674A>T	c.(673-675)cAg>cTg	p.Q225L	NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Missense_Mutation_p.Q225L	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	225					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGTCTTCCAGGAGGAGGGT	0.582000													10	95					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27352499	27352499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:27352499G>A	uc003cdt.2	-	9	851	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	NEK10_uc021wuk.1_3'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	193							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCAAGTTTTTGAAAAATATCT	0.468000													20	49					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126790302	126790302	+	Splice_Site	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:126790302G>A	uc003kuh.4	+	24	3387	c.3025_splice	c.e24+1	p.D1009_splice	MEGF10_uc003kui.4_Splice_Site_p.D1009_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1009	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATCCTTAAAAGGTATCATGTA	0.323000													12	28					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383197	85383197	+	Silent	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:85383197G>A	uc002ble.3	+	4	1460	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	431					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.G431G(3)|p.G431R(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATTGAGCGGGGCTCAAGCGC	0.672000													12	17					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120456	47120456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:47120456G>A	uc001wwg.3	-	0	573	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	162					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R162S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATCTTCTGGCGTCCAGGGAAC	0.502000													44	82					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81157276	81157276	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr16:81157276G>A	uc002fgh.1	-	38	6458	c.6458C>T	c.(6457-6459)aCg>aTg	p.T2153M	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2155					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTCTCTAGCGTCAGCGTGAC	0.592000													31	80					0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54266521	54266521	+	Splice_Site	SNP	C	C	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:54266521C>A	uc001cvs.3	-	11	1358	c.1067_splice	c.e11-1	p.G356_splice	TMEM48_uc010onu.2_Splice_Site_p.G316_splice|TMEM48_uc001cvt.3_Splice_Site_p.G233_splice|TMEM48_uc009vzk.3_Splice_Site|TMEM48_uc010onv.2_Splice_Site_p.G21_splice	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	356					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						GGGATGTCCACCTAGGAGGTC	0.403000													21	37					0.00229938	0.00232284	1	1	0
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:55221711G>C	uc003tqk.3	+	6	1001	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(1)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	109					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296476	20296476	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:20296476G>A	uc010tkv.2	+	0	869	c.869G>A	c.(868-870)cGc>cAc	p.R290H		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACCCTTCGCAACCAGGAA	0.403000													19	42					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009416	120009416	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:120009416C>A	uc011muc.2	-	0	364	c.109G>T	c.(109-111)Gac>Tac	p.D37Y		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	37										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGGCCGGAGTCGCCGCCCTCC	0.736000													5	105					0.000602214	0.000614631	1	1	0
HEATR5B	54497	broad.mit.edu	37	2	37217840	37217840	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:37217840T>C	uc002rpp.1	-	33	5744	c.5648A>G	c.(5647-5649)aAt>aGt	p.N1883S	HEATR5B_uc010ezy.1_Missense_Mutation_p.N378S	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1883							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATGCAGCCATTCTGTAATGA	0.388000													12	63					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907744	23907744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr13:23907744C>T	uc001uon.2	-	9	10860	c.10271G>A	c.(10270-10272)gGa>gAa	p.G3424E	SACS_uc001uoo.2_Missense_Mutation_p.G3277E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3424					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		TCCAAATTTTCCAATGCTTAC	0.358000													33	81					0	0	1	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231794	142231794	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:142231794C>T	uc003vyh.2	-	1	221	c.123G>A	c.(121-123)gcG>gcA	p.A41A	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TCTGGTGACACGCCAAGGTCA	0.488000													35	145					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907776	3907776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:3907776G>A	uc010xhz.2	+	5	904	c.421G>A	c.(421-423)Gcg>Acg	p.A141T	ATCAY_uc002lyy.4_Missense_Mutation_p.A135T|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	135					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGGGACAGCGCGGATCTATT	0.657000													5	51					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102477309	102477309	+	Missense_Mutation	SNP	C	C	T	rs148818720	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:102477309C>T	uc001phc.3	-	5	923	c.910G>A	c.(910-912)Gct>Act	p.A304T		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	304	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		ATTGTCACAGCGTCAAAGGAT	0.577000													4	33					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24977940	24977940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:24977940C>T	uc001bjm.3	+	5	786	c.562C>T	c.(562-564)Cct>Tct	p.P188S	SRRM1_uc010oel.2_Missense_Mutation_p.P188S|SRRM1_uc009vrh.1_Missense_Mutation_p.P149S|SRRM1_uc009vri.1_Missense_Mutation_p.P105S|SRRM1_uc010oem.1_Intron	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	188	Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACGATCTTCCCCTGTCAGGAG	0.463000													15	19					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756934	124756934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:124756934C>T	uc001qbg.3	-	14	2514	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	ROBO4_uc010sas.2_Missense_Mutation_p.V647M|ROBO4_uc001qbh.2_Missense_Mutation_p.V682M|ROBO4_uc001qbi.3_Missense_Mutation_p.V350M	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	792					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGGTCAGCACGCTGTCTTGA	0.592000													30	38					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2501	2501	+	RNA	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrGL000237.1:2501C>T	uc011mgu.1	-	0		c.186G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		actgctccagccccaatccta	0.627000													8	33					0	0	1	0	0
PSPHP1	8781	broad.mit.edu	37	7	55840888	55840888	+	RNA	SNP	A	A	C	rs11971165	by1000genomes	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:55840888A>C	uc003tqy.3	+	0		c.17A>C								Homo sapiens mRNA for L-3-phosphoserine-phosphatase homologue.																		CTTTCATTGGATTTGGAGGAA	0.393000													13	100					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462868	37462868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:37462868G>A	uc003aqt.1	-	17	2376	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	TMPRSS6_uc003aqs.1_Nonsense_Mutation_p.Q759*	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	759	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGACTCACCTGACAGGCATCC	0.617000													12	38					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196197431	196197431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:196197431G>A	uc001gtd.1	-	27	3391	c.3331C>T	c.(3331-3333)Cca>Tca	p.P1111S	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.P1044S|KCNT2_uc001gtf.1_Missense_Mutation_p.P1087S|KCNT2_uc001gtg.1_Non-coding_Transcript	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1111						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCACTGTTTGGAAGGTAGGCC	0.353000													12	34					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143427185	143427185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr8:143427185G>A	uc003ywj.3	-	1	196	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	TSNARE1_uc011lju.2_Nonsense_Mutation_p.Q53*|TSNARE1_uc003ywk.3_Nonsense_Mutation_p.Q53*|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	53					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCGGTTCTGCAGCTTGCTC	0.597000													17	36					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583042	101583042	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:101583042C>T	uc003knm.3	-	9	2012	c.1725G>A	c.(1723-1725)gcG>gcA	p.A575A		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	575					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGGCAGTTTCGCACAATGAG	0.353000													54	88					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70784541	70784541	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:70784541G>T	uc004eaa.2	+	18	2765	c.2527G>T	c.(2527-2529)Gta>Tta	p.V843L	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.V833L|OGT_uc004eac.3_Missense_Mutation_p.V704L|OGT_uc004ead.3_Missense_Mutation_p.V462L	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	843					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding	p.V833I(1)|p.V843I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGATGCCATCGTATACTGTAA	0.403000													21	50					4.96729e-08	5.23151e-08	1	1	0
FBN1	2200	broad.mit.edu	37	15	48902974	48902974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:48902974C>T	uc001zwx.2	-	3	692	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	99	EGF-like 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCAAGTGCACATATTTGGCC	0.428000													13	31					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931428	62931429	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:62931428_62931429delAA	uc001nwr.1	-	8	1511_1512	c.1511_1512delTT	c.(1510-1512)tttfs	p.F504fs	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	504					transmembrane transport	integral to membrane		p.V503V(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGAGGATGGCAAAGACTCCATA	0.495													7	90	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:38079976_38079978delGCA	uc004ddy.2	-	0	200_202	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_uc011mki.2_In_Frame_Del_p.L23del|SRPX_uc004ddz.2_In_Frame_Del_p.L23del|SRPX_uc011mkh.2_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(4)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11	---	---	---	---					
